commit 326b99d43fdc9b210d2f5df79018ef03614ea684 Author: davidlagorce Date: Tue Dec 9 16:49:50 2025 +0100 DECEMBER 2025 diff --git a/Genes associated with rare diseases/en_product6.xml b/Genes associated with rare diseases/en_product6.xml index 17b92eb..0e09d88 100755 --- a/Genes associated with rare diseases/en_product6.xml +++ b/Genes associated with rare diseases/en_product6.xml @@ -1,525068 +1,528911 @@ - - - - - Creative Commons Attribution 4.0 International - CC-BY-4.0 - https://creativecommons.org/licenses/by/4.0/legalcode - - - - - 166024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166024 - Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome - - Disease - - - Disorder - - - - 22587682[PMID] - - kinesin family member 7 - KIF7 - - JBTS12 - - - gene with protein product - - - - ClinVar - KIF7 - - - Ensembl - ENSG00000166813 - - - Genatlas - KIF7 - - - HGNC - 30497 - - - OMIM - 611254 - - - Reactome - Q2M1P5 - - - SwissProt - Q2M1P5 - - - - - 15q26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93 - Aspartylglucosaminuria - - Disease - - - Disorder - - - - 11309371[PMID] - - aspartylglucosaminidase - AGA - - ASRG - N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase - glycosylasparaginase - - - gene with protein product - - - - Reactome - P20933 - - - Ensembl - ENSG00000038002 - - - Genatlas - AGA - - - HGNC - 318 - - - OMIM - 613228 - - - SwissProt - P20933 - - - ClinVar - AGA - - - - - 4q34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 166035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166035 - Brachydactyly-short stature-retinitis pigmentosa syndrome - - Malformation syndrome - - - Disorder - - - - 28285769[PMID] - - CWC27 spliceosome associated cyclophilin - CWC27 - - NY-CO-10 - SDCCAG-10 - - - gene with protein product - - - - HGNC - 10664 - - - SwissProt - Q6UX04 - - - Ensembl - ENSG00000153015 - - - OMIM - 617170 - - - - - 5q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585 - Multiple sulfatase deficiency - - Disease - - - Disorder - - - - 17657823[PMID] - - sulfatase modifying factor 1 - SUMF1 - - FGE - UNQ3037 - - - gene with protein product - - - - Ensembl - ENSG00000144455 - - - Genatlas - SUMF1 - - - HGNC - 20376 - - - OMIM - 607939 - - - Reactome - Q8NBK3 - - - SwissProt - Q8NBK3 - - - ClinVar - SUMF1 - - - - - 3p26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=118 - Beta-mannosidosis - - Disease - - - Disorder - - - - 18980795[PMID] - - mannosidase beta - MANBA - - beta-mannosidase A - - - gene with protein product - - - - ClinVar - MANBA - - - Reactome - O00462 - - - Genatlas - MANBA - - - HGNC - 6831 - - - OMIM - 609489 - - - SwissProt - O00462 - - - Ensembl - ENSG00000109323 - - - - - 4q24 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 166063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166063 - Pontocerebellar hypoplasia type 4 - - Malformation syndrome - - - Disorder - - - - - - tRNA splicing endonuclease subunit 54 - TSEN54 - - SEN54 - SEN54L - - - gene with protein product - - - - Ensembl - ENSG00000182173 - - - Genatlas - TSEN54 - - - HGNC - 27561 - - - OMIM - 608755 - - - Reactome - Q7Z6J9 - - - ClinVar - TSEN54 - - - SwissProt - Q7Z6J9 - - - - - 17q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 166078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166078 - Von Willebrand disease type 1 - - Clinical subtype - - - Subtype of disorder - - - - 20301765[PMID] - - von Willebrand factor - VWF - - Factor VIII related antigen - - - gene with protein product - - - - ClinVar - VWF - - - Ensembl - ENSG00000110799 - - - Genatlas - VWF - - - HGNC - 12726 - - - OMIM - 613160 - - - Reactome - P04275 - - - SwissProt - P04275 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 166073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166073 - Pontocerebellar hypoplasia type 6 - - Malformation syndrome - - - Disorder - - - - - - arginyl-tRNA synthetase 2, mitochondrial - RARS2 - - DALRD2 - MGC14993 - MGC23778 - PRO1992 - arginine tRNA ligase 2, mitochondrial (putative) - dJ382I10.6 - - - gene with protein product - - - - ClinVar - RARS2 - - - Ensembl - ENSG00000146282 - - - Genatlas - RARS2 - - - HGNC - 21406 - - - OMIM - 611524 - - - Reactome - Q5T160 - - - SwissProt - Q5T160 - - - - - 6q15 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 166084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166084 - Von Willebrand disease type 2A - - Clinical subtype - - - Subtype of disorder - - - - 20301765[PMID] - - von Willebrand factor - VWF - - Factor VIII related antigen - - - gene with protein product - - - - ClinVar - VWF - - - Ensembl - ENSG00000110799 - - - Genatlas - VWF - - - HGNC - 12726 - - - OMIM - 613160 - - - Reactome - P04275 - - - SwissProt - P04275 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=333 - Farber disease - - Disease - - - Disorder - - - - 24355074[PMID] - - N-acylsphingosine amidohydrolase 1 - ASAH1 - - AC - FLJ21558 - PHP32 - ACDase - acid ceramidase - acylsphingosine deacylase - - - gene with protein product - - - - IUPHAR - 2491 - - - ClinVar - ASAH1 - - - Ensembl - ENSG00000104763 - - - Genatlas - ASAH1 - - - HGNC - 735 - - - OMIM - 613468 - - - Reactome - Q13510 - - - SwissProt - Q13510 - - - - - 8p22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=349 - Fucosidosis - - Disease - - - Disorder - - - - 10094192[PMID] - - alpha-L-fucosidase 1 - FUCA1 - - tissue fucosidase - a-L-fucosidase 1 - - - gene with protein product - - - - ClinVar - FUCA1 - - - Ensembl - ENSG00000179163 - - - Genatlas - FUCA1 - - - HGNC - 4006 - - - OMIM - 612280 - - - Reactome - P04066 - - - SwissProt - P04066 - - - - - 1p36.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 166090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166090 - Von Willebrand disease type 2M - - Clinical subtype - - - Subtype of disorder - - - - 20301765[PMID] - - von Willebrand factor - VWF - - Factor VIII related antigen - - - gene with protein product - - - - ClinVar - VWF - - - Ensembl - ENSG00000110799 - - - Genatlas - VWF - - - HGNC - 12726 - - - OMIM - 613160 - - - Reactome - P04275 - - - SwissProt - P04275 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 166087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166087 - Von Willebrand disease type 2B - - Clinical subtype - - - Subtype of disorder - - - - 20301765[PMID] - - von Willebrand factor - VWF - - Factor VIII related antigen - - - gene with protein product - - - - ClinVar - VWF - - - Ensembl - ENSG00000110799 - - - Genatlas - VWF - - - HGNC - 12726 - - - OMIM - 613160 - - - Reactome - P04275 - - - SwissProt - P04275 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=366 - Glycogen storage disease due to glycogen debranching enzyme deficiency - - Disease - - - Disorder - - - - 10571954[PMID]_17908927[PMID] - - amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase - AGL - - glycogen storage disease type III - glycogen debranching enzyme - GDE - - - gene with protein product - - - - Genatlas - AGL - - - HGNC - 321 - - - OMIM - 610860 - - - Reactome - P35573 - - - SwissProt - P35573 - - - Ensembl - ENSG00000162688 - - - ClinVar - AGL - - - - - 1p21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 166093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166093 - Von Willebrand disease type 2N - - Clinical subtype - - - Subtype of disorder - - - - 20301765[PMID] - - von Willebrand factor - VWF - - Factor VIII related antigen - - - gene with protein product - - - - ClinVar - VWF - - - Ensembl - ENSG00000110799 - - - Genatlas - VWF - - - HGNC - 12726 - - - OMIM - 613160 - - - Reactome - P04275 - - - SwissProt - P04275 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=368 - Glycogen storage disease due to muscle glycogen phosphorylase deficiency - - Disease - - - Disorder - - - - - - glycogen phosphorylase, muscle associated - PYGM - - myophosphorylase - McArdle syndrome - glycogen phosphorylase, muscle form - glycogen storage disease type V - GSD5 - - - gene with protein product - - - - ClinVar - PYGM - - - Ensembl - ENSG00000068976 - - - Genatlas - PYGM - - - HGNC - 9726 - - - OMIM - 608455 - - - Reactome - P11217 - - - SwissProt - P11217 - - - - - 11q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 166096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166096 - Von Willebrand disease type 3 - - Clinical subtype - - - Subtype of disorder - - - - 20301765[PMID] - - von Willebrand factor - VWF - - Factor VIII related antigen - - - gene with protein product - - - - ClinVar - VWF - - - Ensembl - ENSG00000110799 - - - Genatlas - VWF - - - HGNC - 12726 - - - OMIM - 613160 - - - Reactome - P04275 - - - SwissProt - P04275 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 166100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166100 - Autosomal dominant otospondylomegaepiphyseal dysplasia - - Malformation syndrome - - - Disorder - - - - 16189708[PMID]_21438135[PMID] - - collagen type II alpha 1 chain - COL2A1 - - STL1 - - - gene with protein product - - - - ClinVar - COL2A1 - - - Ensembl - ENSG00000139219 - - - Genatlas - COL2A1 - - - HGNC - 2200 - - - OMIM - 120140 - - - Reactome - P02458 - - - SwissProt - P02458 - - - - - 12q13.11 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - collagen type XI alpha 2 chain - COL11A2 - - HKE5 - - - gene with protein product - - - - ClinVar - COL11A2 - - - Ensembl - ENSG00000204248 - - - Genatlas - COL11A2 - - - HGNC - 2187 - - - OMIM - 120290 - - - Reactome - P13942 - - - SwissProt - P13942 - - - - - 6p21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371 - Glycogen storage disease due to muscle phosphofructokinase deficiency - - Disease - - - Disorder - - - - - - phosphofructokinase, muscle - PFKM - - PFK-1 - PPP1R122 - protein phosphatase 1, regulatory subunit 122 - - - gene with protein product - - - - Ensembl - ENSG00000152556 - - - Genatlas - PFKM - - - HGNC - 8877 - - - OMIM - 610681 - - - Reactome - P08237 - - - SwissProt - P08237 - - - ClinVar - PFKM - - - - - 12q13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 166105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166105 - FASTKD2-related infantile mitochondrial encephalomyopathy - - Disease - - - Disorder - - - - 18771761[PMID] - - FAST kinase domains 2 - FASTKD2 - - - - gene with protein product - - - - ClinVar - FASTKD2 - - - Ensembl - ENSG00000118246 - - - Genatlas - FASTKD2 - - - HGNC - 29160 - - - OMIM - 612322 - - - SwissProt - Q9NYY8 - - - - - 2q33.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369 - Glycogen storage disease due to liver glycogen phosphorylase deficiency - - Disease - - - Disorder - - - - - - glycogen phosphorylase L - PYGL - - Hers disease - glycogen phosphorylase, liver form - glycogen storage disease type VI - GSD6 - - - gene with protein product - - - - ClinVar - PYGL - - - SwissProt - P06737 - - - Ensembl - ENSG00000100504 - - - Genatlas - PYGL - - - HGNC - 9725 - - - OMIM - 613741 - - - Reactome - P06737 - - - - - 14q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447 - Paroxysmal nocturnal hemoglobinuria - - Disease - - - Disorder - - - - 22305531[PMID] - - phosphatidylinositol glycan anchor biosynthesis class A - PIGA - - GPI3 (SPT14) homolog (S. cerevisiae) - PIG-A - Phosphatidylinositol N-acetylglucosaminyltransferase subunit A - GPI3 - paroxysmal nocturnal hemoglobinuria - - - gene with protein product - - - - Ensembl - ENSG00000165195 - - - Genatlas - PIGA - - - HGNC - 8957 - - - OMIM - 311770 - - - Reactome - P37287 - - - SwissProt - P37287 - - - ClinVar - PIGA - - - - - Xp22.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 166108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166108 - Birk-Barel syndrome - - Disease - - - Disorder - - - - 18678320[PMID] - - potassium two pore domain channel subfamily K member 9 - KCNK9 - - K2p9.1 - TASK-3 - TASK3 - TWIK-related acid-sensitive K+ 3 - - - gene with protein product - - - - Ensembl - ENSG00000169427 - - - Genatlas - KCNK9 - - - HGNC - 6283 - - - IUPHAR - 520 - - - OMIM - 605874 - - - Reactome - Q9NPC2 - - - SwissProt - Q9NPC2 - - - ClinVar - KCNK9 - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 166119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166119 - Isolated osteopoikilosis - - Disease - - - Disorder - - - - 26694706[PMID] - - LEM domain containing 3 - LEMD3 - - inner nuclear membrane protein Man1 - MAN1 - MAN antigen 1 - - - gene with protein product - - - - ClinVar - LEMD3 - - - Ensembl - ENSG00000174106 - - - Genatlas - LEMD3 - - - HGNC - 28887 - - - OMIM - 607844 - - - Reactome - Q9Y2U8 - - - SwissProt - Q9Y2U8 - - - - - 12q14.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 166260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166260 - Dentinogenesis imperfecta type 2 - - Clinical subtype - - - Subtype of disorder - - - - - - dentin sialophosphoprotein - DSPP - - DMP3 - - - gene with protein product - - - - ClinVar - DSPP - - - HGNC - 3054 - - - OMIM - 125485 - - - Reactome - Q9NZW4 - - - SwissProt - Q9NZW4 - - - Ensembl - ENSG00000152591 - - - Genatlas - DSPP - - - - - 4q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 166265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166265 - Dentinogenesis imperfecta type 3 - - Clinical subtype - - - Subtype of disorder - - - - - - dentin sialophosphoprotein - DSPP - - DMP3 - - - gene with protein product - - - - ClinVar - DSPP - - - HGNC - 3054 - - - OMIM - 125485 - - - Reactome - Q9NZW4 - - - SwissProt - Q9NZW4 - - - Ensembl - ENSG00000152591 - - - Genatlas - DSPP - - - - - 4q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 166272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166272 - Odontochondrodysplasia - - Malformation syndrome - - - Disorder - - - - 30728324[PMID] - - thyroid hormone receptor interactor 11 - TRIP11 - - CEV14 - GMAP-210 - GMAP210 - Trip230 - golgi-microtubule-associated-protein of 210 kDa - - - gene with protein product - - - - ClinVar - TRIP11 - - - OMIM - 604505 - - - Reactome - Q15643 - - - SwissProt - Q15643 - - - Ensembl - ENSG00000100815 - - - Genatlas - TRIP11 - - - HGNC - 12305 - - - - - 14q32.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576 - Mucolipidosis type II - - Disease - - - Disorder - - - - 18425436[PMID] - - N-acetylglucosamine-1-phosphate transferase subunits alpha and beta - GNPTAB - - KIAA1208 - MGC4170 - - - gene with protein product - - - - Reactome - Q3T906 - - - ClinVar - GNPTAB - - - Ensembl - ENSG00000111670 - - - Genatlas - GNPTAB - - - HGNC - 29670 - - - OMIM - 607840 - - - SwissProt - Q3T906 - - - - - 12q23.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=812 - Sialidosis type 1 - - Disease - - - Disorder - - - - 14517945[PMID] - - neuraminidase 1 - NEU1 - - sialidase-1 - - - gene with protein product - - - - Genatlas - NEU1 - - - HGNC - 7758 - - - OMIM - 608272 - - - Reactome - Q99519 - - - SwissProt - Q99519 - - - Ensembl - ENSG00000204386 - - - IUPHAR - 3214 - - - ClinVar - NEU1 - - - - - 6p21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 166282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166282 - Hereditary sick sinus syndrome - - Disease - - - Disorder - - - - - - sodium voltage-gated channel alpha subunit 5 - SCN5A - - CDCD2 - CMPD2 - HB1 - HB2 - HBBD - HH1 - ICCD - IVF - LQT3 - Nav1.5 - PFHB1 - SSS1 - long QT syndrome 3 - - - gene with protein product - - - - ClinVar - SCN5A - - - Ensembl - ENSG00000183873 - - - Genatlas - SCN5A - - - HGNC - 10593 - - - IUPHAR - 582 - - - OMIM - 600163 - - - Reactome - Q14524 - - - SwissProt - Q14524 - - - - - 3p22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - hyperpolarization activated cyclic nucleotide gated potassium channel 4 - HCN4 - - - - gene with protein product - - - - ClinVar - HCN4 - - - Ensembl - ENSG00000138622 - - - Genatlas - HCN4 - - - HGNC - 16882 - - - IUPHAR - 403 - - - OMIM - 605206 - - - Reactome - Q9Y3Q4 - - - SwissProt - Q9Y3Q4 - - - - - 15q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - myosin heavy chain 6 - MYH6 - - cardiomyopathy, hypertrophic 1 - - - gene with protein product - - - - ClinVar - MYH6 - - - Ensembl - ENSG00000197616 - - - Genatlas - MYH6 - - - HGNC - 7576 - - - OMIM - 160710 - - - Reactome - P13533 - - - SwissProt - P13533 - - - - - 14q11.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 28219978[PMID] - - G protein subunit beta 2 - GNB2 - - transducin beta chain 2 - G protein, beta-2 subunit - guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2 - signal-transducing guanine nucleotide-binding regulatory protein beta subunit - - - gene with protein product - - - - HGNC - 4398 - - - Ensembl - ENSG00000172354 - - - OMIM - 139390 - - - SwissProt - P62879 - - - - - 7q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=578 - Mucolipidosis type IV - - Disease - - - Disorder - - - - 21763169[PMID]_21224396[PMID] - - mucolipin TRP cation channel 1 - MCOLN1 - - ML4 - MLIV - MST080 - MSTP080 - TRPM-L1 - TRPML1 - transient receptor potential cation channel mucolipin subfamily member 1 - transient receptor potential mucolipin 1 - mucolipidosis type IV - - - gene with protein product - - - - Ensembl - ENSG00000090674 - - - Genatlas - MCOLN1 - - - HGNC - 13356 - - - IUPHAR - 501 - - - OMIM - 605248 - - - Reactome - Q9GZU1 - - - SwissProt - Q9GZU1 - - - ClinVar - MCOLN1 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 166286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166286 - Porokeratotic eccrine ostial and dermal duct nevus - - Disease - - - Disorder - - - - 22592158[PMID]_25692760[PMID]_26215685[PMID] - - gap junction protein beta 2 - GJB2 - - CX26 - NSRD1 - connexin 26 - - - gene with protein product - - - - ClinVar - GJB2 - - - Ensembl - ENSG00000165474 - - - Genatlas - GJB2 - - - HGNC - 4284 - - - OMIM - 121011 - - - Reactome - P29033 - - - SwissProt - P29033 - - - IUPHAR - 716 - - - - - 13q12.11 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=461 - Recessive X-linked ichthyosis - - Disease - - - Disorder - - - - 29054605[PMID] - - filaggrin - FLG - - FLG1 - FLG-1 - - - gene with protein product - - - - ClinVar - FLG - - - Ensembl - ENSG00000143631 - - - Genatlas - FLG - - - HGNC - 3748 - - - OMIM - 135940 - - - SwissProt - P20930 - - - Reactome - P20930 - - - - - 1q21.3 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 10583107[PMID]_10692123[PMID] - - steroid sulfatase - STS - - steryl-sulfatase - ARSC - arylsulfatase C - - - gene with protein product - - - - Ensembl - ENSG00000101846 - - - Genatlas - STS - - - HGNC - 11425 - - - OMIM - 300747 - - - Reactome - P08842 - - - SwissProt - P08842 - - - ClinVar - STS - - - - - Xp22.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584 - Mucopolysaccharidosis type 7 - - Disease - - - Disorder - - - - 19224584[PMID] - - glucuronidase beta - GUSB - - - - gene with protein product - - - - ClinVar - GUSB - - - Genatlas - GUSB - - - HGNC - 4696 - - - OMIM - 611499 - - - Reactome - P08236 - - - SwissProt - P08236 - - - Ensembl - ENSG00000169919 - - - - - 7q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 166412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166412 - Hot water reflex epilepsy - - Disease - - - Disorder - - - - 28324217[PMID] - - solute carrier family 1 member 1 - SLC1A1 - - EAAC1 - EAAT3 - hEAAC1 - Excitatory amino acid transporter 3 - excitatory amino acid carrier 1 - - - gene with protein product - - - - ClinVar - SLC1A1 - - - IUPHAR - 870 - - - Ensembl - ENSG00000106688 - - - Genatlas - SLC1A1 - - - HGNC - 10939 - - - OMIM - 133550 - - - Reactome - P43005 - - - SwissProt - P43005 - - - - - 9p24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 95 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95 - Friedreich ataxia - - Disease - - - Disorder - - - - 21776984[PMID] - - frataxin - FXN - - FARR - X25 - CyaY - FA - - - gene with protein product - - - - ClinVar - FXN - - - Genatlas - FXN - - - HGNC - 3951 - - - OMIM - 606829 - - - Reactome - Q16595 - - - SwissProt - Q16595 - - - Ensembl - ENSG00000165060 - - - - - 9q21.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 586 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=586 - Cystic fibrosis - - Disease - - - Disorder - - - - 19738092[PMID] - - serpin family A member 1 - SERPINA1 - - A1A - A1AT - AAT - PI1 - alpha-1-antitrypsin - alpha1AT - protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin - alpha-1 antitrypsin - anti-elastase - protease inhibitor 1 - alpha-1 proteinase inhibitor - - - gene with protein product - - - - ClinVar - SERPINA1 - - - Ensembl - ENSG00000197249 - - - Genatlas - SERPINA1 - - - HGNC - 8941 - - - OMIM - 107400 - - - Reactome - P01009 - - - SwissProt - P01009 - - - - - 14q32.13 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 28756021[PMID] - - solute carrier family 26 member 9 - SLC26A9 - - anion transporter/exchanger-9 - - - gene with protein product - - - - OMIM - 608481 - - - SwissProt - Q7LBE3 - - - HGNC - 14469 - - - Ensembl - ENSG00000174502 - - - IUPHAR - 1103 - - - - - 1q32.1 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 28756021[PMID] - - solute carrier family 6 member 14 - SLC6A14 - - - - gene with protein product - - - - OMIM - 300444 - - - SwissProt - Q9UN76 - - - IUPHAR - 937 - - - Ensembl - ENSG00000268104 - - - Reactome - Q9UN76 - - - Genatlas - SLC6A14 - - - HGNC - 11047 - - - ClinVar - SLC6A14 - - - - - Xq23 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 28756021[PMID] - - solute carrier family 9 member A3 - SLC9A3 - - NHE-3 - Sodium/hydrogen exchanger 3 - - - gene with protein product - - - - Ensembl - ENSG00000066230 - - - Genatlas - SLC9A3 - - - HGNC - 11073 - - - IUPHAR - 950 - - - OMIM - 182307 - - - Reactome - P48764 - - - SwissProt - P48764 - - - ClinVar - SLC9A3 - - - - - 5p15.33 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 20047061[PMID] - - CEA cell adhesion molecule 3 - CEACAM3 - - CD66d - CGM1a - - - gene with protein product - - - - HGNC - 1815 - - - Ensembl - ENSG00000170956 - - - OMIM - 609142 - - - SwissProt - P40198 - - - - - 19q13.2 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 20047061[PMID] - - CEA cell adhesion molecule 6 - CEACAM6 - - CD66c - NCA-50/90 - - - gene with protein product - - - - OMIM - 163980 - - - SwissProt - P40199 - - - HGNC - 1818 - - - Ensembl - ENSG00000086548 - - - - - 19q13.2 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 20028935[PMID] - - endothelin receptor type A - EDNRA - - ETA-R - ET-A - hET-AR - - - gene with protein product - - - - Ensembl - ENSG00000151617 - - - Genatlas - EDNRA - - - HGNC - 3179 - - - IUPHAR - 219 - - - OMIM - 131243 - - - Reactome - P25101 - - - SwissProt - P25101 - - - ClinVar - EDNRA - - - - - 4q31.22-q31.23 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 28289476[PMID] - - glutathione S-transferase mu 3 - GSTM3 - - GST5 - GSTM3TV2 - - - gene with protein product - - - - HGNC - 4635 - - - Ensembl - ENSG00000134202 - - - OMIM - 138390 - - - SwissProt - P21266 - - - - - 1p13.3 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 28289476[PMID] - - heme oxygenase 1 - HMOX1 - - HO-1 - bK286B10 - - - gene with protein product - - - - Genatlas - HMOX1 - - - HGNC - 5013 - - - Reactome - P09601 - - - IUPHAR - 1441 - - - OMIM - 141250 - - - Ensembl - ENSG00000100292 - - - ClinVar - HMOX1 - - - SwissProt - P09601 - - - - - 22q12.3 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 16690975[PMID] - - glutamate-cysteine ligase catalytic subunit - GCLC - - GCS - - - gene with protein product - - - - ClinVar - GCLC - - - Ensembl - ENSG00000001084 - - - Genatlas - GCLC - - - HGNC - 4311 - - - OMIM - 606857 - - - Reactome - P48506 - - - SwissProt - P48506 - - - - - 6p12.1 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 30291871[PMID] - - homeostatic iron regulator - HFE - - HLA-H - high Fe - HFE1 - - - gene with protein product - - - - OMIM - 613609 - - - SwissProt - Q30201 - - - Ensembl - ENSG00000010704 - - - Genatlas - HFE - - - HGNC - 4886 - - - Reactome - Q30201 - - - ClinVar - HFE - - - - - 6p22.2 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 22214395[PMID] - - CF transmembrane conductance regulator - CFTR - - MRP7 - TNR-CFTR - dJ760C5.1 - ABC35 - ATP-binding cassette sub-family C, member 7 - CFTR/MRP - - - gene with protein product - - - - Ensembl - ENSG00000001626 - - - Genatlas - CFTR - - - HGNC - 1884 - - - IUPHAR - 707 - - - OMIM - 602421 - - - Reactome - P13569 - - - SwissProt - P13569 - - - ClinVar - CFTR - - - - - 7q31.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 18424453[PMID] - - transforming growth factor beta 1 - TGFB1 - - CED - Camurati-Engelmann disease - TGFbeta - prepro-transforming growth factor beta-1 - Diaphyseal dysplasia 1, progressive - - - gene with protein product - - - - ClinVar - TGFB1 - - - Ensembl - ENSG00000105329 - - - Genatlas - TGFB1 - - - HGNC - 11766 - - - OMIM - 190180 - - - Reactome - P01137 - - - SwissProt - P01137 - - - - - 19q13.2 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 22772370[PMID] - - dynactin subunit 4 - DCTN4 - - p62 - Dyn4 - - - gene with protein product - - - - ClinVar - DCTN4 - - - Ensembl - ENSG00000132912 - - - Genatlas - DCTN4 - - - HGNC - 15518 - - - OMIM - 614758 - - - Reactome - Q9UJW0 - - - SwissProt - Q9UJW0 - - - - - 5q33.1 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 23073314[PMID] - - chloride channel accessory 4 - CLCA4 - - CaCC2 - - - gene with protein product - - - - ClinVar - CLCA4 - - - Ensembl - ENSG00000016602 - - - Genatlas - CLCA4 - - - HGNC - 2018 - - - OMIM - 616857 - - - Reactome - Q14CN2 - - - SwissProt - Q14CN2 - - - - - 1p22.3 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 23572023[PMID] - - syntaxin 1A - STX1A - - HPC-1 - p35-1 - - - gene with protein product - - - - Ensembl - ENSG00000106089 - - - Genatlas - STX1A - - - HGNC - 11433 - - - OMIM - 186590 - - - Reactome - Q16623 - - - SwissProt - Q16623 - - - ClinVar - STX1A - - - - - 7q11.23 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 29915289[PMID] - - potassium calcium-activated channel subfamily N member 4 - KCNN4 - - IK - KCa3.1 - hIKCa1 - hKCa4 - hSK4 - intermediate conductance calcium-activated potassium channel - small conductance calcium-activated potassium channel 4 - - - gene with protein product - - - - Ensembl - ENSG00000104783 - - - Genatlas - KCNN4 - - - HGNC - 6293 - - - IUPHAR - 384 - - - OMIM - 602754 - - - Reactome - O15554 - - - SwissProt - O15554 - - - ClinVar - KCNN4 - - - - - 19q13.31 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 16179637[PMID] - - macrophage migration inhibitory factor - MIF - - phenylpyruvate tautomerase - glycosylation-inhibiting factor - GIF - - - gene with protein product - - - - SwissProt - P14174 - - - Ensembl - ENSG00000240972 - - - Genatlas - MIF - - - HGNC - 7097 - - - OMIM - 153620 - - - Reactome - P14174 - - - ClinVar - MIF - - - - - 22q11.23 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 28756021[PMID] - - solute carrier family 11 member 1 - SLC11A1 - - - - gene with protein product - - - - ClinVar - SLC11A1 - - - IUPHAR - 966 - - - Ensembl - ENSG00000018280 - - - Genatlas - SLC11A1 - - - HGNC - 10907 - - - OMIM - 600266 - - - Reactome - P49279 - - - SwissProt - P49279 - - - - - 2q35 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - - - 550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550 - MELAS - - Disease - - - Disorder - - - - - - mitochondrially encoded tRNA-Gln (CAA/G) - MT-TQ - - trnQ - - - Non-coding RNA - - - - SwissProt - - - - Ensembl - ENSG00000210107 - - - Genatlas - MT-TQ - - - HGNC - 7495 - - - OMIM - 590030 - - - ClinVar - MT-TQ - - - - - mitochondria - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 22832341[PMID]_19568996[PMID] - - mitochondrially encoded cytochrome c oxidase I - MT-CO1 - - COI - COX1 - - - gene with protein product - - - - ClinVar - MT-CO1 - - - Ensembl - ENSG00000198804 - - - Genatlas - MT-CO1 - - - HGNC - 7419 - - - OMIM - 516030 - - - Reactome - P00395 - - - SwissProt - P00395 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18245391[PMID] - - mitochondrially encoded cytochrome c oxidase II - MT-CO2 - - CO2 - COX2 - - - gene with protein product - - - - ClinVar - MT-CO2 - - - Ensembl - ENSG00000198712 - - - Genatlas - MT-CO2 - - - HGNC - 7421 - - - OMIM - 516040 - - - Reactome - P00403 - - - SwissProt - P00403 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18587274[PMID] - - mitochondrially encoded cytochrome c oxidase III - MT-CO3 - - CO3 - COIII - COX3 - - - gene with protein product - - - - ClinVar - MT-CO3 - - - Ensembl - ENSG00000198938 - - - Genatlas - MT-CO3 - - - HGNC - 7422 - - - OMIM - 516050 - - - Reactome - P00414 - - - SwissProt - P00414 - - - - - mitochondria - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 15657614[PMID] - - mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 - MT-ND1 - - NAD1 - NADH-ubiquinone oxidoreductase chain 1 - ND1 - complex I ND1 subunit - - - gene with protein product - - - - ClinVar - MT-ND1 - - - Ensembl - ENSG00000198888 - - - Genatlas - MT-ND1 - - - HGNC - 7455 - - - OMIM - 516000 - - - Reactome - P03886 - - - SwissProt - P03886 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 - MT-ND4 - - NAD4 - NADH-ubiquinone oxidoreductase chain 4 - ND4 - complex I ND4 subunit - - - gene with protein product - - - - ClinVar - MT-ND4 - - - Ensembl - ENSG00000198886 - - - Genatlas - MT-ND4 - - - HGNC - 7459 - - - OMIM - 516003 - - - Reactome - P03905 - - - SwissProt - P03905 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18587274[PMID]_20301411[PMID] - - mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 - MT-ND5 - - NAD5 - NADH-ubiquinone oxidoreductase chain 5 - ND5 - complex I ND5 subunit - - - gene with protein product - - - - ClinVar - MT-ND5 - - - Ensembl - ENSG00000198786 - - - Genatlas - MT-ND5 - - - HGNC - 7461 - - - OMIM - 516005 - - - Reactome - P03915 - - - SwissProt - P03915 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11781695[PMID] - - mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 - MT-ND6 - - NAD6 - NADH-ubiquinone oxidoreductase chain 6 - ND6 - complex I ND6 subunit - - - gene with protein product - - - - ClinVar - MT-ND6 - - - Ensembl - ENSG00000198695 - - - Genatlas - MT-ND6 - - - HGNC - 7462 - - - OMIM - 516006 - - - Reactome - P03923 - - - SwissProt - P03923 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301411[PMID] - - mitochondrially encoded tRNA-Leu (UUA/G) 1 - MT-TL1 - - TRNL1 - - - Non-coding RNA - - - - SwissProt - - - - Ensembl - ENSG00000209082 - - - Genatlas - MT-TL1 - - - HGNC - 7490 - - - OMIM - 590050 - - - ClinVar - MT-TL1 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23696415[PMID] - - mitochondrially encoded tRNA-Trp (UGA/G) - MT-TW - - trnW - - - Non-coding RNA - - - - SwissProt - - - - HGNC - 7501 - - - OMIM - 590095 - - - Ensembl - ENSG00000210117 - - - Genatlas - MT-TW - - - ClinVar - MT-TW - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 14967777[PMID]_15111688[PMID] - - mitochondrially encoded tRNA-His (CAU/C) - MT-TH - - trnH - - - Non-coding RNA - - - - ClinVar - TRNH - - - Ensembl - ENSG00000210176 - - - Genatlas - TRNH - - - HGNC - 7487 - - - OMIM - 590040 - - - SwissProt - - - - - - mitochondria - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 17894844[PMID] - - mitochondrially encoded tRNA-Ser (UCN) 1 - MT-TS1 - - TRNS1 - - - Non-coding RNA - - - - Ensembl - ENSG00000210151 - - - Genatlas - MT-TS1 - - - HGNC - 7497 - - - OMIM - 590080 - - - ClinVar - MT-TS1 - - - SwissProt - - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16950817[PMID] - - mitochondrially encoded tRNA-Ser (AGU/C) 2 - MT-TS2 - - RP8 - TRNS2 - - - Non-coding RNA - - - - SwissProt - - - - HGNC - 7498 - - - OMIM - 590085 - - - Ensembl - ENSG00000210184 - - - Genatlas - MT-TS2 - - - ClinVar - MT-TS2 - - - - - mitochondria - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 9771776[PMID] - - mitochondrially encoded tRNA-Phe (UUU/C) - MT-TF - - trnF - - - Non-coding RNA - - - - SwissProt - - - - Ensembl - ENSG00000210049 - - - Genatlas - MT-TF - - - HGNC - 7481 - - - OMIM - 590070 - - - ClinVar - MT-TF - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269 - Facioscapulohumeral dystrophy - - Disease - - - Disorder - - - - 27153398[PMID] - - DNA methyltransferase 3 beta - DNMT3B - - - - gene with protein product - - - - ClinVar - DNMT3B - - - Ensembl - ENSG00000088305 - - - Genatlas - DNMT3B - - - HGNC - 2979 - - - OMIM - 602900 - - - Reactome - Q9UBC3 - - - SwissProt - Q9UBC3 - - - - - 20q11.21 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - - - double homeobox 4 - DUX4 - - - - gene with protein product - - - - ClinVar - DUX4 - - - Reactome - Q9UBX2 - - - HGNC - 50800 - - - OMIM - 606009 - - - Genatlas - DUX4 - - - SwissProt - Q9UBX2 - - - Ensembl - ENSG00000260596 - - - - - 4q35.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - double homeobox 4 like 1 (pseudogene) - DUX4L1 - - - - Non-coding RNA - - - - OMIM - - - - SwissProt - - - - Ensembl - ENSG00000280757 - - - HGNC - 3082 - - - - - 4q35.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 23300487[PMID]_23525014[PMID]_23720823[PMID] - - FSHD region gene 1 - FRG1 - - FRG1A - FSG1 - - - gene with protein product - - - - Ensembl - ENSG00000109536 - - - Genatlas - FRG1 - - - HGNC - 3954 - - - OMIM - 601278 - - - SwissProt - Q14331 - - - ClinVar - FRG1 - - - Reactome - Q14331 - - - - - 4q35.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 23143600[PMID]_24128691[PMID] - - structural maintenance of chromosomes flexible hinge domain containing 1 - SMCHD1 - - FSHD2 - KIAA0650 - - - gene with protein product - - - - Ensembl - ENSG00000101596 - - - Genatlas - SMCHD1 - - - HGNC - 29090 - - - OMIM - 614982 - - - SwissProt - A6NHR9 - - - ClinVar - SMCHD1 - - - - - 18p11.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24075187[PMID] - - structural maintenance of chromosomes flexible hinge domain containing 1 - SMCHD1 - - FSHD2 - KIAA0650 - - - gene with protein product - - - - Ensembl - ENSG00000101596 - - - Genatlas - SMCHD1 - - - HGNC - 29090 - - - OMIM - 614982 - - - SwissProt - A6NHR9 - - - ClinVar - SMCHD1 - - - - - 18p11.32 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - - - 480 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480 - Kearns-Sayre syndrome - - Disease - - - Disorder - - - - - - mitochondrially encoded ATP synthase membrane subunit 8 - MT-ATP8 - - mitochondrially encoded ATP synthase membrane subunit A6L - A6L - ATP8 - URFA6L - - - gene with protein product - - - - IUPHAR - 809 - - - Genatlas - MT-ATP8 - - - HGNC - 7415 - - - OMIM - 516070 - - - Reactome - P03928 - - - SwissProt - P03928 - - - Ensembl - ENSG00000228253 - - - ClinVar - MT-ATP8 - - - - - mitochondria - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 21378381[PMID] - - ribonucleotide reductase regulatory TP53 inducible subunit M2B - RRM2B - - p53R2 - - - gene with protein product - - - - Ensembl - ENSG00000048392 - - - Genatlas - RRM2B - - - HGNC - 17296 - - - IUPHAR - 2754 - - - OMIM - 604712 - - - Reactome - Q7LG56 - - - SwissProt - Q7LG56 - - - ClinVar - RRM2B - - - - - 8q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - mitochondrially encoded tRNA-Leu (UUA/G) 1 - MT-TL1 - - TRNL1 - - - Non-coding RNA - - - - SwissProt - - - - Ensembl - ENSG00000209082 - - - Genatlas - MT-TL1 - - - HGNC - 7490 - - - OMIM - 590050 - - - ClinVar - MT-TL1 - - - - - mitochondria - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 551 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551 - MERRF - - Disease - - - Disorder - - - - 19273760[PMID]_27816331[PMID] - - mitochondrially encoded tRNA-Pro (CCN) - MT-TP - - trnP - - - Non-coding RNA - - - - SwissProt - - - - Ensembl - ENSG00000210196 - - - Genatlas - MT-TP - - - HGNC - 7494 - - - OMIM - 590075 - - - ClinVar - MT-TP - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 - MT-ND5 - - NAD5 - NADH-ubiquinone oxidoreductase chain 5 - ND5 - complex I ND5 subunit - - - gene with protein product - - - - ClinVar - MT-ND5 - - - Ensembl - ENSG00000198786 - - - Genatlas - MT-ND5 - - - HGNC - 7461 - - - OMIM - 516005 - - - Reactome - P03915 - - - SwissProt - P03915 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 8254046[PMID] - - mitochondrially encoded tRNA-Leu (UUA/G) 1 - MT-TL1 - - TRNL1 - - - Non-coding RNA - - - - SwissProt - - - - Ensembl - ENSG00000209082 - - - Genatlas - MT-TL1 - - - HGNC - 7490 - - - OMIM - 590050 - - - ClinVar - MT-TL1 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301693[PMID] - - mitochondrially encoded tRNA-Lys (AAA/G) - MT-TK - - trnK - - - Non-coding RNA - - - - Ensembl - ENSG00000210156 - - - Genatlas - MT-TK - - - HGNC - 7489 - - - OMIM - 590060 - - - SwissProt - - - - ClinVar - MT-TK - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - mitochondrially encoded 12S rRNA - MT-RNR1 - - 12S - mitochondrial open-reading-frame of the twelve S rRNA type-c - mitochondrially encoded 12S ribosomal RNA - MOTS-c - - - Non-coding RNA - - - - SwissProt - A0A0C5B5G6 - - - Ensembl - ENSG00000211459 - - - Genatlas - MT-RNR1 - - - HGNC - 7470 - - - OMIM - 561000 - - - ClinVar - MT-RNR1 - - - - - mitochondria - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 23179085[PMID] - - mitochondrially encoded tRNA-Gln (CAA/G) - MT-TQ - - trnQ - - - Non-coding RNA - - - - SwissProt - - - - Ensembl - ENSG00000210107 - - - Genatlas - MT-TQ - - - HGNC - 7495 - - - OMIM - 590030 - - - ClinVar - MT-TQ - - - - - mitochondria - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 14967777[PMID] - - mitochondrially encoded tRNA-His (CAU/C) - MT-TH - - trnH - - - Non-coding RNA - - - - ClinVar - TRNH - - - Ensembl - ENSG00000210176 - - - Genatlas - TRNH - - - HGNC - 7487 - - - OMIM - 590040 - - - SwissProt - - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 7669057[PMID] - - mitochondrially encoded tRNA-Ser (UCN) 1 - MT-TS1 - - TRNS1 - - - Non-coding RNA - - - - Ensembl - ENSG00000210151 - - - Genatlas - MT-TS1 - - - HGNC - 7497 - - - OMIM - 590080 - - - ClinVar - MT-TS1 - - - SwissProt - - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16950817[PMID] - - mitochondrially encoded tRNA-Ser (AGU/C) 2 - MT-TS2 - - RP8 - TRNS2 - - - Non-coding RNA - - - - SwissProt - - - - HGNC - 7498 - - - OMIM - 590085 - - - Ensembl - ENSG00000210184 - - - Genatlas - MT-TS2 - - - ClinVar - MT-TS2 - - - - - mitochondria - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 15184630[PMID] - - mitochondrially encoded tRNA-Phe (UUU/C) - MT-TF - - trnF - - - Non-coding RNA - - - - SwissProt - - - - Ensembl - ENSG00000210049 - - - Genatlas - MT-TF - - - HGNC - 7481 - - - OMIM - 590070 - - - ClinVar - MT-TF - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 597 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597 - Central core disease - - Disease - - - Disorder - - - - 20301565[PMID] - - ryanodine receptor 1 - RYR1 - - PPP1R137 - RYR - protein phosphatase 1, regulatory subunit 137 - - - gene with protein product - - - - ClinVar - RYR1 - - - Ensembl - ENSG00000196218 - - - Genatlas - RYR1 - - - HGNC - 10483 - - - IUPHAR - 747 - - - OMIM - 180901 - - - Reactome - P21817 - - - SwissProt - P21817 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 163746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163746 - Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease - - Disease - - - Disorder - - - - 22963253[PMID]_24311220[PMID] - - SRY-box transcription factor 10 - SOX10 - - DOM - WS2E - WS4 - dominant megacolon, mouse, human homolog of - SOX-10 - - - gene with protein product - - - - ClinVar - SOX10 - - - Ensembl - ENSG00000100146 - - - Genatlas - SOX10 - - - HGNC - 11190 - - - OMIM - 602229 - - - SwissProt - P56693 - - - Reactome - P56693 - - - - - 22q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684 - Paramyotonia congenita of Von Eulenburg - - Disease - - - Disorder - - - - 10369308[PMID] - - sodium voltage-gated channel alpha subunit 4 - SCN4A - - HYPP - Nav1.4 - SkM1 - - - gene with protein product - - - - ClinVar - SCN4A - - - Genatlas - SCN4A - - - HGNC - 10591 - - - IUPHAR - 581 - - - OMIM - 603967 - - - Reactome - P35499 - - - SwissProt - P35499 - - - Ensembl - ENSG00000007314 - - - - - 17q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 163931 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163931 - Acrodermatitis continua of Hallopeau - - Disease - - - Disorder - - - - 23303454[PMID] - - interleukin 36 receptor antagonist - IL36RN - - FIL1 - FIL1(DELTA) - FIL1D - IL-1 related protein 3 - IL-1F5 - IL1HY1 - IL1L1 - IL1RP3 - IL36RA - MGC29840 - family of interleukin 1-delta - interleukin-1 HY1 - interleukin-1 receptor antagonist homolog 1 - - - gene with protein product - - - - ClinVar - IL36RN - - - Ensembl - ENSG00000136695 - - - Genatlas - IL36RN - - - HGNC - 15561 - - - OMIM - 605507 - - - SwissProt - Q9UBH0 - - - Reactome - Q9UBH0 - - - - - 2q14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24791904[PMID] - - adaptor related protein complex 1 subunit sigma 3 - AP1S3 - - sigma1C - AP-1 complex subunit sigma 3 - - - gene with protein product - - - - Ensembl - ENSG00000152056 - - - Genatlas - AP1S3 - - - HGNC - 18971 - - - OMIM - 615781 - - - Reactome - Q96PC3 - - - SwissProt - Q96PC3 - - - ClinVar - AP1S3 - - - - - 2q36.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 163927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163927 - Pustulosis palmaris et plantaris - - Disease - - - Disorder - - - - 23303454[PMID] - - interleukin 36 receptor antagonist - IL36RN - - FIL1 - FIL1(DELTA) - FIL1D - IL-1 related protein 3 - IL-1F5 - IL1HY1 - IL1L1 - IL1RP3 - IL36RA - MGC29840 - family of interleukin 1-delta - interleukin-1 HY1 - interleukin-1 receptor antagonist homolog 1 - - - gene with protein product - - - - ClinVar - IL36RN - - - Ensembl - ENSG00000136695 - - - Genatlas - IL36RN - - - HGNC - 15561 - - - OMIM - 605507 - - - SwissProt - Q9UBH0 - - - Reactome - Q9UBH0 - - - - - 2q14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24791904[PMID] - - adaptor related protein complex 1 subunit sigma 3 - AP1S3 - - sigma1C - AP-1 complex subunit sigma 3 - - - gene with protein product - - - - Ensembl - ENSG00000152056 - - - Genatlas - AP1S3 - - - HGNC - 18971 - - - OMIM - 615781 - - - Reactome - Q96PC3 - - - SwissProt - Q96PC3 - - - ClinVar - AP1S3 - - - - - 2q36.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 163937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163937 - X-linked intellectual disability, Najm type - - Disease - - - Disorder - - - - 19165920[PMID] - - calcium/calmodulin dependent serine protein kinase - CASK - - CAGH39 - FGS4 - LIN2 - - - gene with protein product - - - - ClinVar - CASK - - - Ensembl - ENSG00000147044 - - - Genatlas - CASK - - - HGNC - 1497 - - - IUPHAR - 1959 - - - OMIM - 300172 - - - Reactome - O14936 - - - SwissProt - O14936 - - - - - Xp11.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 614 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=614 - Thomsen and Becker disease - - Disease - - - Disorder - - - - 20301529[PMID] - - chloride voltage-gated channel 1 - CLCN1 - - CLC1 - ClC-1 - Thomsen disease, autosomal dominant - - - gene with protein product - - - - IUPHAR - 698 - - - Ensembl - ENSG00000188037 - - - Genatlas - CLCN1 - - - HGNC - 2019 - - - OMIM - 118425 - - - Reactome - P35523 - - - SwissProt - P35523 - - - ClinVar - CLCN1 - - - - - 7q34 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 163966 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163966 - X-linked dominant chondrodysplasia, Chassaing-Lacombe type - - Disease - - - Disorder - - - - 20181727[PMID] - - histone deacetylase 6 - HDAC6 - - FLJ16239 - HD6 - JM21 - KIAA0901 - PPP1R90 - protein phosphatase 1, regulatory subunit 90 - KDAC6 - alpha-tubulin deacetylase HDAC6 - - - gene with protein product - - - - Ensembl - ENSG00000094631 - - - Genatlas - HDAC6 - - - HGNC - 14064 - - - IUPHAR - 2618 - - - OMIM - 300272 - - - Reactome - Q9UBN7 - - - SwissProt - Q9UBN7 - - - ClinVar - HDAC6 - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 163976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163976 - X-linked intellectual disability, Van Esch type - - Malformation syndrome - - - Disorder - - - - 31006512[PMID] - - DNA polymerase alpha 1, catalytic subunit - POLA1 - - p180 - - - gene with protein product - - - - ClinVar - POLA1 - - - HGNC - 9173 - - - OMIM - 312040 - - - Genatlas - POLA1 - - - SwissProt - P09884 - - - Reactome - P09884 - - - Ensembl - ENSG00000101868 - - - - - Xp22.11-p21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 163956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163956 - X-linked intellectual disability, Nascimento type - - Disease - - - Disorder - - - - 16909393[PMID] - - ubiquitin conjugating enzyme E2 A - UBE2A - - HHR6A - RAD6A - UBC2 - HR6A - - - gene with protein product - - - - ClinVar - UBE2A - - - Ensembl - ENSG00000077721 - - - Genatlas - UBE2A - - - HGNC - 12472 - - - OMIM - 312180 - - - Reactome - P49459 - - - SwissProt - P49459 - - - - - Xq24 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 - Fabry disease - - Disease - - - Disorder - - - - 20301469[PMID] - - galactosidase alpha - GLA - - GALA - - - gene with protein product - - - - Ensembl - ENSG00000102393 - - - Genatlas - GLA - - - HGNC - 4296 - - - OMIM - 300644 - - - Reactome - P06280 - - - SwissProt - P06280 - - - ClinVar - GLA - - - - - Xq22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 163985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163985 - Hyperekplexia-epilepsy syndrome - - Disease - - - Disorder - - - - 20301437[PMID] - - Cdc42 guanine nucleotide exchange factor 9 - ARHGEF9 - - KIAA0424 - PEM-2 - collybistin - - - gene with protein product - - - - ClinVar - ARHGEF9 - - - Ensembl - ENSG00000131089 - - - Genatlas - ARHGEF9 - - - HGNC - 14561 - - - OMIM - 300429 - - - Reactome - O43307 - - - SwissProt - O43307 - - - - - Xq11.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 778 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=778 - Rett syndrome - - Disease - - - Disorder - - - - 20301670[PMID] - - methyl-CpG binding protein 2 - MECP2 - - - - gene with protein product - - - - HGNC - 6990 - - - OMIM - 300005 - - - SwissProt - P51608 - - - Ensembl - ENSG00000169057 - - - Genatlas - MECP2 - - - ClinVar - MECP2 - - - Reactome - P51608 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307 - Juvenile myoclonic epilepsy - - Disease - - - Disorder - - - - 29539279[PMID] - - ciliogenesis associated kinase 1 - CILK1 - - KIAA0936 - LCK2 - MGC46090 - MRK - MAK-related kinase - serine/threonine-protein kinase ICK - - - gene with protein product - - - - Reactome - Q9UPZ9 - - - SwissProt - Q9UPZ9 - - - Ensembl - ENSG00000112144 - - - Genatlas - ICK - - - HGNC - 21219 - - - IUPHAR - 2038 - - - OMIM - 612325 - - - ClinVar - ICK - - - - - 6p12.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23756480[PMID] - - calcium voltage-gated channel auxiliary subunit beta 4 - CACNB4 - - EJM4 - - - gene with protein product - - - - HGNC - 1404 - - - OMIM - 601949 - - - Reactome - O00305 - - - SwissProt - O00305 - - - Ensembl - ENSG00000182389 - - - Genatlas - CACNB4 - - - ClinVar - CACNB4 - - - - - 2q23.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23756480[PMID] - - gamma-aminobutyric acid type A receptor subunit alpha1 - GABRA1 - - EJM5 - GABA(A) receptor, alpha 1 - - - gene with protein product - - - - ClinVar - GABRA1 - - - OMIM - 137160 - - - Reactome - P14867 - - - SwissProt - P14867 - - - Ensembl - ENSG00000022355 - - - Genatlas - GABRA1 - - - HGNC - 4075 - - - IUPHAR - 404 - - - - - 5q34 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23756480[PMID] - - EF-hand domain containing 1 - EFHC1 - - FLJ10466 - myoclonin-1 - POC9 - RIB72 - - - gene with protein product - - - - Ensembl - ENSG00000096093 - - - Genatlas - EFHC1 - - - HGNC - 16406 - - - OMIM - 608815 - - - SwissProt - Q5JVL4 - - - Reactome - Q5JVL4 - - - ClinVar - EFHC1 - - - - - 6p12.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23756480[PMID] - - gamma-aminobutyric acid type A receptor subunit delta - GABRD - - GABAARdelta - GABA(A) receptor, delta - - - gene with protein product - - - - ClinVar - GABRD - - - Ensembl - ENSG00000187730 - - - Genatlas - GABRD - - - HGNC - 4084 - - - IUPHAR - 416 - - - OMIM - 137163 - - - SwissProt - O14764 - - - - - 1p36.33 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 12928862[PMID] - - potassium voltage-gated channel subfamily Q member 3 - KCNQ3 - - Kv7.3 - - - gene with protein product - - - - ClinVar - KCNQ3 - - - Ensembl - ENSG00000184156 - - - Genatlas - KCNQ3 - - - HGNC - 6297 - - - IUPHAR - 562 - - - OMIM - 602232 - - - Reactome - O43525 - - - SwissProt - O43525 - - - - - 8q24.22 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 11463517[PMID] - - Jrk helix-turn-helix protein - JRK - - JH8 - jerky - - - gene with protein product - - - - ClinVar - JRK - - - Reactome - O75564 - - - HGNC - 6199 - - - OMIM - 603210 - - - SwissProt - O75564 - - - Ensembl - ENSG00000234616 - - - Genatlas - JRK - - - - - 8q24.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 12612585[PMID]_19191339[PMID]_23756480[PMID] - - chloride voltage-gated channel 2 - CLCN2 - - CLC2 - ClC-2 - EJM6 - - - gene with protein product - - - - Ensembl - ENSG00000114859 - - - Genatlas - CLCN2 - - - HGNC - 2020 - - - IUPHAR - 699 - - - OMIM - 600570 - - - Reactome - P51788 - - - SwissProt - P51788 - - - ClinVar - CLCN2 - - - - - 3q27.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 1941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1941 - Juvenile absence epilepsy - - Disease - - - Disorder - - - - 17159113[PMID] - - EF-hand domain containing 1 - EFHC1 - - FLJ10466 - myoclonin-1 - POC9 - RIB72 - - - gene with protein product - - - - Ensembl - ENSG00000096093 - - - Genatlas - EFHC1 - - - HGNC - 16406 - - - OMIM - 608815 - - - SwissProt - Q5JVL4 - - - Reactome - Q5JVL4 - - - ClinVar - EFHC1 - - - - - 6p12.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=892 - Von Hippel-Lindau disease - - Disease - - - Disorder - - - - 12097293[PMID] - - cyclin D1 - CCND1 - - B-cell CLL/lymphoma 1 - G1/S-specific cyclin D1 - U21B31 - parathyroid adenomatosis 1 - - - gene with protein product - - - - Ensembl - ENSG00000110092 - - - Genatlas - CCND1 - - - HGNC - 1582 - - - OMIM - 168461 - - - Reactome - P24385 - - - SwissProt - P24385 - - - ClinVar - CCND1 - - - - - 11q13.3 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - - - von Hippel-Lindau tumor suppressor - VHL - - VHL1 - - - gene with protein product - - - - ClinVar - VHL - - - IUPHAR - 3204 - - - Ensembl - ENSG00000134086 - - - Genatlas - VHL - - - HGNC - 12687 - - - OMIM - 608537 - - - Reactome - P40337 - - - SwissProt - P40337 - - - - - 3p25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=731 - Autosomal recessive polycystic kidney disease - - Disease - - - Disorder - - - - 28530676[PMID] - - DAZ interacting zinc finger protein 1 like - DZIP1L - - DZIP2 - FLJ32844 - - - gene with protein product - - - - ClinVar - DZIP1L - - - HGNC - 26551 - - - Ensembl - ENSG00000158163 - - - SwissProt - Q8IYY4 - - - OMIM - 617570 - - - Genatlas - DZIP1L - - - Reactome - Q8IYY4 - - - - - 3q22.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301501[PMID] - - PKHD1 ciliary IPT domain containing fibrocystin/polyductin - PKHD1 - - ARPKD - FCYT - fibrocystin - polyductin - tigmin - FPC - fibrocystin/polyductin complex - - - gene with protein product - - - - ClinVar - PKHD1 - - - OMIM - 606702 - - - SwissProt - P08F94 - - - Ensembl - ENSG00000170927 - - - Genatlas - PKHD1 - - - HGNC - 9016 - - - - - 6p12.3-p12.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 164736 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164736 - Familial advanced sleep-phase syndrome - - Disease - - - Disorder - - - - 26903630[PMID] - - period circadian regulator 3 - PER3 - - - - gene with protein product - - - - HGNC - 8847 - - - OMIM - 603427 - - - Genatlas - PER3 - - - SwissProt - P56645 - - - Ensembl - ENSG00000049246 - - - Reactome - P56645 - - - ClinVar - PER3 - - - - - 1p36.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15800623[PMID] - - casein kinase 1 delta - CSNK1D - - CKID - CKIdelta - HCKID - - - gene with protein product - - - - ClinVar - CSNK1D - - - OMIM - 600864 - - - Reactome - P48730 - - - SwissProt - P48730 - - - Ensembl - ENSG00000141551 - - - Genatlas - CSNK1D - - - HGNC - 2452 - - - IUPHAR - 1997 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11232563[PMID] - - period circadian regulator 2 - PER2 - - KIAA0347 - - - gene with protein product - - - - Ensembl - ENSG00000132326 - - - Genatlas - PER2 - - - HGNC - 8846 - - - OMIM - 603426 - - - Reactome - O15055 - - - SwissProt - O15055 - - - ClinVar - PER2 - - - - - 2q37.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 - CHARGE syndrome - - Malformation syndrome - - - Disorder - - - - 15235037[PMID] - - semaphorin 3E - SEMA3E - - KIAA0331 - M-SemaK - M-sema H - coll-5 - - - gene with protein product - - - - ClinVar - SEMA3E - - - OMIM - 608166 - - - Reactome - O15041 - - - SwissProt - O15041 - - - Ensembl - ENSG00000170381 - - - Genatlas - SEMA3E - - - HGNC - 10727 - - - - - 7q21.11 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 20301296[PMID] - - chromodomain helicase DNA binding protein 7 - CHD7 - - FLJ20357 - FLJ20361 - KIAA1416 - - - gene with protein product - - - - Ensembl - ENSG00000171316 - - - Genatlas - CHD7 - - - HGNC - 20626 - - - OMIM - 608892 - - - SwissProt - Q9P2D1 - - - ClinVar - CHD7 - - - - - 8q12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=803 - Amyotrophic lateral sclerosis - - Disease - - - Disorder - - - - 27080313[PMID] - - cyclin F - CCNF - - FBX1 - FBXO1 - - - gene with protein product - - - - HGNC - 1591 - - - Ensembl - ENSG00000162063 - - - OMIM - 600227 - - - Genatlas - CCNF - - - Reactome - P41002 - - - SwissProt - P41002 - - - ClinVar - CCNF - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21438137[PMID] - - TATA-box binding protein associated factor 15 - TAF15 - - Npl3 - RBP56 - hTAFII68 - - - gene with protein product - - - - Genatlas - TAF15 - - - HGNC - 11547 - - - OMIM - 601574 - - - SwissProt - Q92804 - - - Ensembl - ENSG00000270647 - - - Reactome - Q92804 - - - ClinVar - TAF15 - - - - - 17q12 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 28469040[PMID] - - annexin A11 - ANXA11 - - annexin XI - - - gene with protein product - - - - Ensembl - ENSG00000122359 - - - SwissProt - P50995 - - - OMIM - 602572 - - - Genatlas - ANXA11 - - - Reactome - P50995 - - - ClinVar - ANXA11 - - - HGNC - 535 - - - - - 10q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27455348[PMID]_26974433[PMID] - - cilia and flagella associated protein 410 - CFAP410 - - leucine rich repeat containing 76 - nuclear encoded mitochondrial protein - LRRC76 - A2 - YF5 - - - gene with protein product - - - - Reactome - O43822 - - - HGNC - 1260 - - - SwissProt - O43822 - - - Ensembl - ENSG00000160226 - - - OMIM - 603191 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25343993[PMID] - - GLE1 RNA export mediator - GLE1 - - hGLE1 - - - gene with protein product - - - - Ensembl - ENSG00000119392 - - - Genatlas - GLE1 - - - HGNC - 4315 - - - OMIM - 603371 - - - SwissProt - Q53GS7 - - - Reactome - Q53GS7 - - - ClinVar - GLE1 - - - - - 9q34.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26945885[PMID] - - NIMA related kinase 1 - NEK1 - - KIAA1901 - NY-REN-55 - - - gene with protein product - - - - Reactome - Q96PY6 - - - Ensembl - ENSG00000137601 - - - Genatlas - NEK1 - - - HGNC - 7744 - - - IUPHAR - 2114 - - - OMIM - 604588 - - - SwissProt - Q96PY6 - - - ClinVar - NEK1 - - - - - 4q33 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 30811981[PMID] - - glycosyltransferase 8 domain containing 1 - GLT8D1 - - AD-017 - FLJ14611 - - - gene with protein product - - - - HGNC - 24870 - - - Ensembl - ENSG00000016864 - - - SwissProt - Q68CQ7 - - - OMIM - 618399 - - - - - 3p21.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 25113787[PMID]_25261972[PMID]_25113788[PMID]_25261971[PMID]_25348631[PMID]_25348633[PMID]_25155093[PMID] - - coiled-coil-helix-coiled-coil-helix domain containing 10 - CHCHD10 - - MIX17 homolog A - MIX17A - N27C7-4 - - - gene with protein product - - - - Reactome - Q8WYQ3 - - - ClinVar - CHCHD10 - - - Ensembl - ENSG00000250479 - - - Genatlas - CHCHD10 - - - HGNC - 15559 - - - OMIM - 615903 - - - SwissProt - Q8WYQ3 - - - - - 22q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24085347[PMID]_20368421[PMID] - - D-amino acid oxidase - DAO - - DAMOX - DAAO - - - gene with protein product - - - - OMIM - 124050 - - - Reactome - P14920 - - - SwissProt - P14920 - - - Ensembl - ENSG00000110887 - - - Genatlas - DAO - - - HGNC - 2671 - - - ClinVar - DAO - - - - - 12q24.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24085347[PMID] - - ataxin 2 - ATXN2 - - ATX2 - trinucleotide repeat containing 13 - - - gene with protein product - - - - Reactome - Q99700 - - - ClinVar - ATXN2 - - - Ensembl - ENSG00000204842 - - - Genatlas - ATXN2 - - - HGNC - 10555 - - - OMIM - 601517 - - - SwissProt - Q99700 - - - - - 12q24.12 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 20352044[PMID]_23155438[PMID]_16807408[PMID] - - charged multivesicular body protein 2B - CHMP2B - - CHMP2.5 - DKFZP564O123 - VPS2 homolog B (S. cerevisiae) - VPS2B - - - gene with protein product - - - - Ensembl - ENSG00000083937 - - - Genatlas - CHMP2B - - - HGNC - 24537 - - - OMIM - 609512 - - - Reactome - Q9UQN3 - - - SwissProt - Q9UQN3 - - - ClinVar - CHMP2B - - - - - 3p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301623[PMID]_23941283[PMID] - - superoxide dismutase 1 - SOD1 - - IPOA - - - gene with protein product - - - - ClinVar - SOD1 - - - Ensembl - ENSG00000142168 - - - Genatlas - SOD1 - - - HGNC - 11179 - - - OMIM - 147450 - - - Reactome - P00441 - - - SwissProt - P00441 - - - - - 21q22.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24535663[PMID] - - triggering receptor expressed on myeloid cells 2 - TREM2 - - TREM-2 - Trem2a - Trem2b - Trem2c - - - gene with protein product - - - - Ensembl - ENSG00000095970 - - - Genatlas - TREM2 - - - HGNC - 17761 - - - OMIM - 605086 - - - Reactome - Q9NZC2 - - - SwissProt - Q9NZC2 - - - ClinVar - TREM2 - - - - - 6p21.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 20301623[PMID]_23941283[PMID] - - VAMP associated protein B and C - VAPB - - ALS8 - VAP-B - VAP-C - - - gene with protein product - - - - ClinVar - VAPB - - - Ensembl - ENSG00000124164 - - - Genatlas - VAPB - - - HGNC - 12649 - - - OMIM - 605704 - - - Reactome - O95292 - - - SwissProt - O95292 - - - - - 20q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24085347[PMID] - - valosin containing protein - VCP - - CDC48 - p97 - IBMPFD - TERA - transitional endoplasmic reticulum ATPase - - - gene with protein product - - - - ClinVar - VCP - - - Ensembl - ENSG00000165280 - - - Genatlas - VCP - - - HGNC - 12666 - - - OMIM - 601023 - - - Reactome - P55072 - - - SwissProt - P55072 - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23941283[PMID] - - neurofilament heavy chain - NEFH - - NF-H - NFH - - - gene with protein product - - - - Ensembl - ENSG00000100285 - - - Genatlas - NEFH - - - HGNC - 7737 - - - OMIM - 162230 - - - SwissProt - P12036 - - - ClinVar - NEFH - - - - - 22q12.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 24085347[PMID] - - optineurin - OPTN - - FIP-2 - FIP2 - HIP7 - HYPL - NRP - TFIIIA-INTP - - - gene with protein product - - - - Ensembl - ENSG00000123240 - - - Genatlas - OPTN - - - HGNC - 17142 - - - OMIM - 602432 - - - Reactome - Q96CV9 - - - SwissProt - Q96CV9 - - - ClinVar - OPTN - - - - - 10p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23941283[PMID] - - dynactin subunit 1 - DCTN1 - - p150 glued homolog (Drosophila) - - - gene with protein product - - - - Ensembl - ENSG00000204843 - - - Genatlas - DCTN1 - - - HGNC - 2711 - - - OMIM - 601143 - - - Reactome - Q14203 - - - SwissProt - Q14203 - - - ClinVar - DCTN1 - - - - - 2p13.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 24085347[PMID] - - TAR DNA binding protein - TARDBP - - ALS10 - TDP-43 - - - gene with protein product - - - - ClinVar - TARDBP - - - Ensembl - ENSG00000120948 - - - Genatlas - TARDBP - - - HGNC - 11571 - - - OMIM - 605078 - - - SwissProt - Q13148 - - - Reactome - Q13148 - - - - - 1p36.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24085347[PMID] - - FIG4 phosphoinositide 5-phosphatase - FIG4 - - ALS11 - CMT4J - SAC3 - dJ249I4.1 - hSac3 - - - gene with protein product - - - - ClinVar - FIG4 - - - Ensembl - ENSG00000112367 - - - Genatlas - FIG4 - - - HGNC - 16873 - - - OMIM - 609390 - - - Reactome - Q92562 - - - SwissProt - Q92562 - - - - - 6q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24085347[PMID] - - FUS RNA binding protein - FUS - - FUS1 - HNRNPP2 - TLS - heterogeneous nuclear ribonucleoprotein P2 - hnRNP-P2 - translocated in liposarcoma - - - gene with protein product - - - - ClinVar - FUS - - - Ensembl - ENSG00000089280 - - - Genatlas - FUS - - - HGNC - 4010 - - - OMIM - 137070 - - - Reactome - P35637 - - - SwissProt - P35637 - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23941283[PMID]_20301623[PMID] - - angiogenin - ANG - - ribonuclease A family member 5 - RAA1 - RNASE5 - Homo sapiens epididymis luminal protein 168 - HEL168 - - - gene with protein product - - - - ClinVar - ANG - - - Ensembl - ENSG00000214274 - - - Genatlas - ANG - - - HGNC - 483 - - - OMIM - 105850 - - - Reactome - P03950 - - - SwissProt - P03950 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24686783[PMID] - - matrin 3 - MATR3 - - KIAA0723 - MGC9105 - VCPDM - - - gene with protein product - - - - ClinVar - MATR3 - - - Reactome - P43243 - - - Ensembl - ENSG00000015479 - - - Genatlas - MATR3 - - - HGNC - 6912 - - - OMIM - 164015 - - - SwissProt - P43243 - - - - - 5q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - peripherin - PRPH - - PRPH1 - - - gene with protein product - - - - ClinVar - PRPH - - - Reactome - P41219 - - - Ensembl - ENSG00000135406 - - - Genatlas - PRPH - - - HGNC - 9461 - - - OMIM - 170710 - - - SwissProt - P41219 - - - - - 12q13.12 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 20582942[PMID]_23941283[PMID] - - paraoxonase 1 - PON1 - - ESA - arylesterase 1 - esterase A - - - gene with protein product - - - - Reactome - P27169 - - - ClinVar - PON1 - - - IUPHAR - 3052 - - - Ensembl - ENSG00000005421 - - - Genatlas - PON1 - - - HGNC - 9204 - - - OMIM - 168820 - - - SwissProt - P27169 - - - - - 7q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20582942[PMID]_23941283[PMID] - - paraoxonase 2 - PON2 - - arylesterase 2 - paraoxonase nirs - - - gene with protein product - - - - Reactome - Q15165 - - - ClinVar - PON2 - - - Ensembl - ENSG00000105854 - - - Genatlas - PON2 - - - IUPHAR - 3053 - - - HGNC - 9205 - - - OMIM - 602447 - - - SwissProt - Q15165 - - - - - 7q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20582942[PMID]_23941283[PMID] - - paraoxonase 3 - PON3 - - arylesterase 3 - - - gene with protein product - - - - IUPHAR - 3054 - - - Reactome - Q15166 - - - ClinVar - PON3 - - - Ensembl - ENSG00000105852 - - - Genatlas - PON3 - - - HGNC - 9206 - - - OMIM - 602720 - - - SwissProt - Q15166 - - - - - 7q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23303844[PMID]_24138988[PMID]_22084127[PMID]_24085347[PMID] - - sequestosome 1 - SQSTM1 - - A170 - p60 - p62 - p62B - autophagy receptor p62 - - - gene with protein product - - - - IUPHAR - 3213 - - - Ensembl - ENSG00000161011 - - - Genatlas - SQSTM1 - - - HGNC - 11280 - - - OMIM - 601530 - - - Reactome - Q13501 - - - SwissProt - Q13501 - - - ClinVar - SQSTM1 - - - - - 5q35.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24085347[PMID] - - ubiquilin 2 - UBQLN2 - - CHAP1/DSK2 - Chap1 - Dsk2 - LIC-2 - N4BP4 - NEDD4 binding protein 4 - PLIC-2 - PLIC2 - RIHFB2157 - - - gene with protein product - - - - ClinVar - UBQLN2 - - - Reactome - Q9UHD9 - - - Genatlas - UBQLN2 - - - HGNC - 12509 - - - OMIM - 300264 - - - SwissProt - Q9UHD9 - - - Ensembl - ENSG00000188021 - - - - - Xp11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24085347[PMID] - - C9orf72-SMCR8 complex subunit - C9ORF72 - - MGC23980 - DENNL72 - DENND9 - - - gene with protein product - - - - ClinVar - C9orf72 - - - Ensembl - ENSG00000147894 - - - Genatlas - C9orf72 - - - HGNC - 28337 - - - OMIM - 614260 - - - SwissProt - Q96LT7 - - - - - 9p21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22801503[PMID]_23428184[PMID]_24085347[PMID] - - profilin 1 - PFN1 - - - - gene with protein product - - - - ClinVar - PFN1 - - - Ensembl - ENSG00000108518 - - - Genatlas - PFN1 - - - HGNC - 8881 - - - OMIM - 176610 - - - Reactome - P07737 - - - SwissProt - P07737 - - - - - 17p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25700176[PMID] - - TANK binding kinase 1 - TBK1 - - NAK - - - gene with protein product - - - - Ensembl - ENSG00000183735 - - - Genatlas - TBK1 - - - HGNC - 11584 - - - IUPHAR - 2237 - - - ClinVar - TBK1 - - - OMIM - 604834 - - - Reactome - Q9UHD2 - - - SwissProt - Q9UHD2 - - - - - 12q14.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23455423[PMID] - - heterogeneous nuclear ribonucleoprotein A1 - HNRNPA1 - - ALS20 - hnRNP-A1 - hnRNPA1 - - - gene with protein product - - - - ClinVar - HNRNPA1 - - - Ensembl - ENSG00000135486 - - - Genatlas - HNRNPA1 - - - HGNC - 5031 - - - OMIM - 164017 - - - Reactome - P09651 - - - SwissProt - P09651 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23669350[PMID] - - PPARG coactivator 1 alpha - PPARGC1A - - PPARAGCIa - PGC-1alpha - PGC1 - PGC1A - PPARgamma coactivator 1alpha - - - gene with protein product - - - - ClinVar - PPARGC1A - - - Ensembl - ENSG00000109819 - - - Genatlas - PPARGC1A - - - HGNC - 9237 - - - OMIM - 604517 - - - Reactome - Q9UBK2 - - - SwissProt - Q9UBK2 - - - - - 4p15.2 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 24119685[PMID] - - erb-b2 receptor tyrosine kinase 4 - ERBB4 - - ALS19 - HER4 - human epidermal growth factor receptor 4 - - - gene with protein product - - - - ClinVar - ERBB4 - - - Ensembl - ENSG00000178568 - - - Genatlas - ERBB4 - - - HGNC - 3432 - - - IUPHAR - 1799 - - - OMIM - 600543 - - - Reactome - Q15303 - - - SwissProt - Q15303 - - - - - 2q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24931836[PMID]_19734901[PMID] - - unc-13 homolog A - UNC13A - - KIAA1032 - Munc13-1 - - - gene with protein product - - - - ClinVar - UNC13A - - - Ensembl - ENSG00000130477 - - - Genatlas - UNC13A - - - HGNC - 23150 - - - OMIM - 609894 - - - SwissProt - Q9UPW8 - - - - - 19p13.11 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100 - Ataxia-telangiectasia - - Disease - - - Disorder - - - - 20301790[PMID] - - ATM serine/threonine kinase - ATM - - TEL1 - TEL1, telomere maintenance 1, homolog (S. cerevisiae) - TELO1 - - - gene with protein product - - - - ClinVar - ATM - - - SwissProt - Q13315 - - - Ensembl - ENSG00000149311 - - - Genatlas - ATM - - - HGNC - 795 - - - IUPHAR - 1934 - - - OMIM - 607585 - - - Reactome - Q13315 - - - - - 11q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399 - Huntington disease - - Disease - - - Disorder - - - - 20301482[PMID]_21566141[PMID] - - huntingtin - HTT - - IT15 - - - gene with protein product - - - - Reactome - P42858 - - - ClinVar - HTT - - - Ensembl - ENSG00000197386 - - - Genatlas - HTT - - - HGNC - 4851 - - - OMIM - 613004 - - - SwissProt - P42858 - - - - - 4p16.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 24452335[PMID] - - solute carrier family 2 member 3 - SLC2A3 - - - - gene with protein product - - - - IUPHAR - 877 - - - ClinVar - SLC2A3 - - - Ensembl - ENSG00000059804 - - - Genatlas - SLC2A3 - - - HGNC - 11007 - - - OMIM - 138170 - - - Reactome - P11169 - - - SwissProt - P11169 - - - - - 12p13.31 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - - - 501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=501 - Lafora disease - - Disease - - - Disorder - - - - 20301563[PMID]_22047982[PMID]_22669944[PMID] - - EPM2A glucan phosphatase, laforin - EPM2A - - LD - LDE - - - gene with protein product - - - - SwissProt - O95278 - - - Ensembl - ENSG00000112425 - - - Genatlas - EPM2A - - - HGNC - 3413 - - - OMIM - 607566 - - - Reactome - O95278 - - - ClinVar - EPM2A - - - - - 6q24.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301563[PMID]_22047982[PMID]_22669944[PMID] - - NHL repeat containing E3 ubiquitin protein ligase 1 - NHLRC1 - - EPM2B - bA204B7.2 - epilepsy, progressive myoclonus type 2B - malin - - - gene with protein product - - - - Ensembl - ENSG00000187566 - - - Genatlas - NHLRC1 - - - HGNC - 21576 - - - OMIM - 608072 - - - ClinVar - NHLRC1 - - - Reactome - Q6VVB1 - - - SwissProt - Q6VVB1 - - - - - 6p22.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 567 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567 - 22q11.2 deletion syndrome - - Malformation syndrome - - - Disorder - - - - 14585638[PMID] - - T-box transcription factor 1 - TBX1 - - CATCH22 - - - gene with protein product - - - - Ensembl - ENSG00000184058 - - - Genatlas - TBX1 - - - HGNC - 11592 - - - OMIM - 602054 - - - SwissProt - O43435 - - - ClinVar - TBX1 - - - - - 22q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - T-box transcription factor 1 - TBX1 - - CATCH22 - - - gene with protein product - - - - Ensembl - ENSG00000184058 - - - Genatlas - TBX1 - - - HGNC - 11592 - - - OMIM - 602054 - - - SwissProt - O43435 - - - ClinVar - TBX1 - - - - - 22q11.21 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - ARVCF delta catenin family member - ARVCF - - - - gene with protein product - - - - ClinVar - ARVCF - - - Ensembl - ENSG00000099889 - - - Genatlas - ARVCF - - - HGNC - 728 - - - OMIM - 602269 - - - SwissProt - O00192 - - - - - 22q11.21 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - glycoprotein Ib platelet subunit beta - GP1BB - - CD42c - GPIbbeta - platelet glycoprotein Ib beta chain - - - gene with protein product - - - - ClinVar - GP1BB - - - Ensembl - ENSG00000203618 - - - Genatlas - GP1BB - - - HGNC - 4440 - - - OMIM - 138720 - - - Reactome - P13224 - - - SwissProt - P13224 - - - - - 22q11.21 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - ubiquitin recognition factor in ER associated degradation 1 - UFD1 - - - - gene with protein product - - - - Ensembl - ENSG00000070010 - - - Genatlas - UFD1L - - - HGNC - 12520 - - - OMIM - 601754 - - - Reactome - Q92890 - - - SwissProt - Q92890 - - - ClinVar - UFD1L - - - - - 22q11.21 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 15177686[PMID] - - histone cell cycle regulator - HIRA - - DGCR1 - DiGeorge critical region gene 1 - TUP1 - histone regulator A - - - gene with protein product - - - - Ensembl - ENSG00000100084 - - - Genatlas - HIRA - - - HGNC - 4916 - - - OMIM - 600237 - - - Reactome - P54198 - - - SwissProt - P54198 - - - ClinVar - HIRA - - - - - 22q11.21 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 23992923[PMID] - - catechol-O-methyltransferase - COMT - - - - gene with protein product - - - - HGNC - 2228 - - - IUPHAR - 2472 - - - OMIM - 116790 - - - Reactome - P21964 - - - SwissProt - P21964 - - - Ensembl - ENSG00000093010 - - - Genatlas - COMT - - - ClinVar - COMT - - - - - 22q11.21 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 26608785[PMID] - - jumonji domain containing 1C - JMJD1C - - KDM3C - DKFZp761F0118 - FLJ14374 - KIAA1380 - - - gene with protein product - - - - Ensembl - ENSG00000171988 - - - Genatlas - JMJD1C - - - HGNC - 12313 - - - OMIM - 604503 - - - Reactome - Q15652 - - - SwissProt - Q15652 - - - IUPHAR - 2663 - - - ClinVar - JMJD1C - - - - - 10q21.3 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 26608785[PMID] - - ras responsive element binding protein 1 - RREB1 - - hindsight homolog (drosophila) - HNT - - - gene with protein product - - - - OMIM - 602209 - - - Genatlas - RREB1 - - - SwissProt - Q92766 - - - Ensembl - ENSG00000124782 - - - ClinVar - RREB1 - - - HGNC - 10449 - - - Reactome - Q92766 - - - - - 6p24.3 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 26608785[PMID] - - SEC24 homolog C, COPII coat complex component - SEC24C - - KIAA0079 - - - gene with protein product - - - - SwissProt - P53992 - - - Reactome - P53992 - - - Ensembl - ENSG00000176986 - - - ClinVar - SEC24C - - - HGNC - 10705 - - - OMIM - 607185 - - - Genatlas - SEC24C - - - - - 10q22.2 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - - - 232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232 - Sickle cell anemia - - Disease - - - Disorder - - - - 20301551[PMID]_24361300[PMID] - - hemoglobin subunit beta - HBB - - CD113t-C - beta-globin - - - gene with protein product - - - - ClinVar - HBB - - - HGNC - 4827 - - - OMIM - 141900 - - - Reactome - P68871 - - - SwissProt - P68871 - - - Ensembl - ENSG00000244734 - - - Genatlas - HBB - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536 - Systemic lupus erythematosus - - Disease - - - Disorder - - - - 22039224[PMID]_21978998[PMID]_21900951[PMID] - - B cell scaffold protein with ankyrin repeats 1 - BANK1 - - BANK - FLJ20706 - - - gene with protein product - - - - ClinVar - BANK1 - - - HGNC - 18233 - - - OMIM - 610292 - - - SwissProt - Q8NDB2 - - - Ensembl - ENSG00000153064 - - - Genatlas - BANK1 - - - - - 4q24 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22592861[PMID] - - PX domain containing serine/threonine kinase like - PXK - - FLJ20335 - Slob - - - gene with protein product - - - - ClinVar - PXK - - - Ensembl - ENSG00000168297 - - - Genatlas - PXK - - - HGNC - 23326 - - - IUPHAR - 2183 - - - OMIM - 611450 - - - SwissProt - Q7Z7A4 - - - - - 3p14.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 30287618[PMID] - - immunoglobulin heavy constant gamma 1 (G1m marker) - IGHG1 - - - - gene with protein product - - - - ClinVar - IGHG1 - - - Ensembl - ENSG00000211896 - - - Genatlas - IGHG1 - - - HGNC - 5525 - - - OMIM - 147100 - - - Reactome - P01857 - - - SwissProt - P01857 - - - - - 14q32.33 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 23922195[PMID] - - cytotoxic T-lymphocyte associated protein 4 - CTLA4 - - CD - CD152 - GSE - gluten-sensitive enteropathy - celiac disease - CTLA-4 - - - gene with protein product - - - - IUPHAR - 2743 - - - ClinVar - CTLA4 - - - Ensembl - ENSG00000163599 - - - Genatlas - CTLA4 - - - HGNC - 2505 - - - OMIM - 123890 - - - Reactome - P16410 - - - SwissProt - P16410 - - - - - 2q33.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 17660818[PMID]_23732569[PMID] - - three prime repair exonuclease 1 - TREX1 - - DRN3 - - - gene with protein product - - - - Genatlas - TREX1 - - - HGNC - 12269 - - - OMIM - 606609 - - - Reactome - Q9NSU2 - - - SwissProt - Q9NSU2 - - - Ensembl - ENSG00000213689 - - - ClinVar - TREX1 - - - - - 3p21.31 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22654485[PMID]_19838195[PMID]_23917156[PMID]_23407388[PMID]_22893315[PMID]_23793423[PMID]_21695597[PMID] - - major histocompatibility complex, class II, DR beta 1 - HLA-DRB1 - - - - gene with protein product - - - - ClinVar - HLA-DRB1 - - - Ensembl - ENSG00000196126 - - - Genatlas - HLA-DRB1 - - - HGNC - 4948 - - - OMIM - 142857 - - - Reactome - P04229 - - - SwissProt - P01911 - - - - - 6p21.32 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23936042[PMID]_22654485[PMID]_19838195[PMID]_20576226[PMID] - - interleukin 10 - IL10 - - CSIF - IL-10 - IL10A - T-cell growth inhibitory factor - TGIF - cytokine synthesis inhibitory factor - - - gene with protein product - - - - ClinVar - IL10 - - - Reactome - P22301 - - - Ensembl - ENSG00000136634 - - - Genatlas - IL10 - - - HGNC - 5962 - - - OMIM - 124092 - - - SwissProt - P22301 - - - - - 1q32.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23857988[PMID]_23428850[PMID]_22904263[PMID]_19440199[PMID]_22654485[PMID] - - methyl-CpG binding protein 2 - MECP2 - - - - gene with protein product - - - - HGNC - 6990 - - - OMIM - 300005 - - - SwissProt - P51608 - - - Ensembl - ENSG00000169057 - - - Genatlas - MECP2 - - - ClinVar - MECP2 - - - Reactome - P51608 - - - - - Xq28 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23917156[PMID]_21296850[PMID]_20442749[PMID] - - Fc fragment of IgG receptor IIIb - FCGR3B - - CD16 - CD16b - Fc gamma receptor IIIb - FcRIIIb - FcgammaRIIIb - - - gene with protein product - - - - ClinVar - FCGR3B - - - Ensembl - ENSG00000162747 - - - Genatlas - FCGR3B - - - HGNC - 3620 - - - OMIM - 610665 - - - SwissProt - O75015 - - - Reactome - O75015 - - - - - 1q23.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22654485[PMID]_23914156[PMID]_10092831[PMID]_17503323[PMID]_15998580[PMID]_12133986[PMID] - - complement C4A (Chido/Rodgers blood group) - C4A - - C4 - C4A2 - C4A3 - C4A4 - C4A6 - C4B - C4S - CO4 - CPAMD2 - RG - - - gene with protein product - - - - ClinVar - C4A - - - Ensembl - ENSG00000244731 - - - Genatlas - C4A - - - HGNC - 1323 - - - OMIM - 120810 - - - Reactome - P0C0L4 - - - SwissProt - P0C0L4 - - - - - 6p21.33 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 3265961[PMID]_22654485[PMID]_23914156[PMID]_10092831[PMID]_17503323[PMID]_15998580[PMID]_12133986[PMID] - - complement C4B (Chido/Rodgers blood group) - C4B - - CPAMD3 - C4B1 - C4B3 - C4F - CH - CO4 - - - gene with protein product - - - - ClinVar - C4B - - - OMIM - 120820 - - - Reactome - P0C0L5 - - - SwissProt - P0C0L5 - - - Ensembl - ENSG00000224389 - - - Genatlas - C4B - - - HGNC - 1324 - - - - - 6p21.33 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 17360460[PMID]_22673213[PMID] - - complement C3d receptor 2 - CR2 - - C3DR - CD21 - Epstein-Barr virus receptor - - - gene with protein product - - - - Ensembl - ENSG00000117322 - - - Genatlas - CR2 - - - HGNC - 2336 - - - OMIM - 120650 - - - SwissProt - P20023 - - - ClinVar - CR2 - - - Reactome - P20023 - - - - - 1q32.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 15657875[PMID]_23943494[PMID]_23917156[PMID]_22654485[PMID] - - interferon regulatory factor 5 - IRF5 - - IRF-5 - - - gene with protein product - - - - ClinVar - IRF5 - - - Ensembl - ENSG00000128604 - - - Genatlas - IRF5 - - - HGNC - 6120 - - - OMIM - 607218 - - - Reactome - Q13568 - - - SwissProt - Q13568 - - - - - 7q32.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 12402038[PMID] - - programmed cell death 1 - PDCD1 - - CD279 - PD-1 - PD1 - hSLE1 - - - gene with protein product - - - - Ensembl - ENSG00000188389 - - - Genatlas - PDCD1 - - - HGNC - 8760 - - - IUPHAR - 2760 - - - OMIM - 600244 - - - Reactome - Q15116 - - - SwissProt - Q15116 - - - ClinVar - PDCD1 - - - - - 2q37.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 15273934[PMID]_19838195[PMID]_23966601[PMID]_23950893[PMID]_23943494[PMID]_22654485[PMID] - - protein tyrosine phosphatase non-receptor type 22 - PTPN22 - - Lyp - Lyp1 - Lyp2 - - - gene with protein product - - - - Ensembl - ENSG00000134242 - - - Genatlas - PTPN22 - - - HGNC - 9652 - - - OMIM - 600716 - - - SwissProt - Q9Y2R2 - - - IUPHAR - 3084 - - - Reactome - Q9Y2R2 - - - ClinVar - PTPN22 - - - - - 1p13.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 17804842[PMID]_23943494[PMID]_22654485[PMID] - - signal transducer and activator of transcription 4 - STAT4 - - - - gene with protein product - - - - Ensembl - ENSG00000138378 - - - Genatlas - STAT4 - - - HGNC - 11365 - - - OMIM - 600558 - - - SwissProt - Q14765 - - - Reactome - Q14765 - - - ClinVar - STAT4 - - - - - 2q32.2-q32.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23943494[PMID]_12115230[PMID]_20385827[PMID] - - Fc fragment of IgG receptor IIb - FCGR2B - - CD32 - CD32B - Fc gamma receptor IIb - FcGRIIB - FcgammaRIIb - - - gene with protein product - - - - Ensembl - ENSG00000072694 - - - Genatlas - FCGR2B - - - HGNC - 3618 - - - OMIM - 604590 - - - Reactome - P31994 - - - SwissProt - P31994 - - - ClinVar - FCGR2B - - - - - 1q23.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 11479590[PMID] - - deoxyribonuclease 1 - DNASE1 - - - - gene with protein product - - - - ClinVar - DNASE1 - - - Ensembl - ENSG00000213918 - - - Genatlas - DNASE1 - - - HGNC - 2956 - - - OMIM - 125505 - - - SwissProt - P24855 - - - - - 16p13.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22696686[PMID]_22654485[PMID]_24091983[PMID] - - BLK proto-oncogene, Src family tyrosine kinase - BLK - - MGC10442 - - - gene with protein product - - - - Ensembl - ENSG00000136573 - - - Genatlas - BLK - - - HGNC - 1057 - - - IUPHAR - 1940 - - - OMIM - 191305 - - - Reactome - P51451 - - - SwissProt - P51451 - - - ClinVar - BLK - - - - - 8p23.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 19286673[PMID]_23917156[PMID]_23943494[PMID] - - integrin subunit alpha M - ITGAM - - CD11b - MAC-1 - complement component 3 receptor 3 subunit - macrophage-1 antigen alpha subunit - - - gene with protein product - - - - ClinVar - ITGAM - - - IUPHAR - 2452 - - - Ensembl - ENSG00000169896 - - - Genatlas - ITGAM - - - HGNC - 6149 - - - OMIM - 120980 - - - Reactome - P11215 - - - SwissProt - P11215 - - - - - 16p11.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23740937[PMID] - - KIAA0319 like - KIAA0319L - - AAVR - AAV receptor - KIAA1837 - - - gene with protein product - - - - Reactome - Q8IZA0 - - - ClinVar - KIAA0319L - - - Ensembl - ENSG00000142687 - - - Genatlas - KIAA0319L - - - HGNC - 30071 - - - OMIM - 613535 - - - SwissProt - Q8IZA0 - - - - - 1p34.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 19838195[PMID] - - JAZF zinc finger 1 - JAZF1 - - DKFZp761K2222 - TIP27 - ZNF802 - - - gene with protein product - - - - HGNC - 28917 - - - OMIM - 606246 - - - SwissProt - Q86VZ6 - - - Ensembl - ENSG00000153814 - - - Genatlas - JAZF1 - - - ClinVar - JAZF1 - - - - - 7p15.2-p15.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23917156[PMID]_23858047[PMID]_22833143[PMID]_22087647[PMID]_19838195[PMID]_22654485[PMID] - - TNFAIP3 interacting protein 1 - TNIP1 - - ABIN-1 - KIAA0113 - NAF1 - Nef-associated factor 1 SNP - VAN - virion-associated nuclear-shuttling protein - - - gene with protein product - - - - Reactome - Q15025 - - - Ensembl - ENSG00000145901 - - - Genatlas - TNIP1 - - - HGNC - 16903 - - - OMIM - 607714 - - - SwissProt - Q15025 - - - ClinVar - TNIP1 - - - - - 5q33.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23943494[PMID]_21336280[PMID]_20617138[PMID]_24039598[PMID]_24091983[PMID]_22654485[PMID] - - TNF alpha induced protein 3 - TNFAIP3 - - A20 - OTUD7C - - - gene with protein product - - - - SwissProt - P21580 - - - Ensembl - ENSG00000118503 - - - Genatlas - TNFAIP3 - - - HGNC - 11896 - - - OMIM - 191163 - - - Reactome - P21580 - - - ClinVar - TNFAIP3 - - - - - 6q23.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23917156[PMID]_22045845[PMID]_22476155[PMID]_24091983[PMID]_23943494[PMID] - - ubiquitin conjugating enzyme E2 L3 - UBE2L3 - - UBCH7 - - - gene with protein product - - - - Ensembl - ENSG00000185651 - - - Genatlas - UBE2L3 - - - HGNC - 12488 - - - OMIM - 603721 - - - Reactome - P68036 - - - SwissProt - P68036 - - - ClinVar - UBE2L3 - - - - - 22q11.21 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 24091983[PMID]_22850862[PMID]_22820624[PMID]_21905002[PMID]_23943494[PMID]_19838193[PMID]_22654485[PMID] - - TNF superfamily member 4 - TNFSF4 - - CD252 - OX-40L - gp34 - - - gene with protein product - - - - Ensembl - ENSG00000117586 - - - Genatlas - TNFSF4 - - - HGNC - 11934 - - - OMIM - 603594 - - - Reactome - P23510 - - - SwissProt - P23510 - - - ClinVar - TNFSF4 - - - - - 1q25.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 19440199[PMID]_11933203[PMID]_24023622[PMID]_18335026[PMID]_15692970[PMID] - - secreted phosphoprotein 1 - SPP1 - - ETA-1 - BSPI - early T-lymphocyte activation 1 - lnc-PKD2-2-3 - - - gene with protein product - - - - Ensembl - ENSG00000118785 - - - Genatlas - SPP1 - - - HGNC - 11255 - - - OMIM - 166490 - - - Reactome - P10451 - - - SwissProt - P10451 - - - ClinVar - SPP1 - - - - - 4q22.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23435933[PMID]_22904263[PMID]_18050247[PMID]_19440199[PMID]_22654485[PMID]_23943494[PMID] - - interleukin 1 receptor associated kinase 1 - IRAK1 - - IRAK - pelle - - - gene with protein product - - - - Genatlas - IRAK1 - - - HGNC - 6112 - - - IUPHAR - 2042 - - - OMIM - 300283 - - - Reactome - P51617 - - - SwissProt - P51617 - - - Ensembl - ENSG00000184216 - - - ClinVar - IRAK1 - - - - - Xq28 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23236436[PMID]_22087647[PMID] - - ETS proto-oncogene 1, transcription factor - ETS1 - - Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1 - ETS-1 - FLJ10768 - ets protein - - - gene with protein product - - - - Ensembl - ENSG00000134954 - - - Genatlas - ETS1 - - - HGNC - 3488 - - - OMIM - 164720 - - - Reactome - P14921 - - - SwissProt - P14921 - - - ClinVar - ETS1 - - - - - 11q24.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 35477763[PMID] - - toll like receptor 7 - TLR7 - - - - gene with protein product - - - - HGNC - 15631 - - - Ensembl - ENSG00000196664 - - - SwissProt - Q9NYK1 - - - Reactome - Q9NYK1 - - - IUPHAR - 1757 - - - OMIM - 300365 - - - - - Xp22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 166002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166002 - Multiple epiphyseal dysplasia due to collagen 9 anomaly - - Disease - - - Disorder - - - - 20301302[PMID] - - collagen type IX alpha 1 chain - COL9A1 - - - - gene with protein product - - - - ClinVar - COL9A1 - - - Ensembl - ENSG00000112280 - - - Genatlas - COL9A1 - - - HGNC - 2217 - - - OMIM - 120210 - - - Reactome - P20849 - - - SwissProt - P20849 - - - - - 6q13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301302[PMID] - - collagen type IX alpha 2 chain - COL9A2 - - MED - - - gene with protein product - - - - ClinVar - COL9A2 - - - Ensembl - ENSG00000049089 - - - Genatlas - COL9A2 - - - HGNC - 2218 - - - OMIM - 120260 - - - Reactome - Q14055 - - - SwissProt - Q14055 - - - - - 1p34.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301302[PMID] - - collagen type IX alpha 3 chain - COL9A3 - - DJ885L7.4.1 - EDM3 - FLJ90759 - IDD - MED - collagen type IX proteoglycan - - - gene with protein product - - - - ClinVar - COL9A3 - - - Ensembl - ENSG00000092758 - - - Genatlas - COL9A3 - - - HGNC - 2219 - - - OMIM - 120270 - - - Reactome - Q14050 - - - SwissProt - Q14050 - - - - - 20q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=534 - Oculocerebrorenal syndrome of Lowe - - Malformation syndrome - - - Disorder - - - - 20301653[PMID] - - OCRL inositol polyphosphate-5-phosphatase - OCRL - - OCRL1 - Dent-2 - Dent disease 2 - - - gene with protein product - - - - IUPHAR - 1460 - - - ClinVar - OCRL - - - Ensembl - ENSG00000122126 - - - Genatlas - OCRL - - - HGNC - 8108 - - - OMIM - 300535 - - - Reactome - Q01968 - - - SwissProt - Q01968 - - - - - Xq26.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 165991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165991 - Exercise-induced hyperinsulinism - - Disease - - - Disorder - - - - 17701893[PMID] - - solute carrier family 16 member 1 - SLC16A1 - - Monocarboxylate transporter 1 - MCT - MCT1 - - - gene with protein product - - - - Ensembl - ENSG00000155380 - - - Genatlas - SLC16A1 - - - HGNC - 10922 - - - OMIM - 600682 - - - Reactome - P53985 - - - SwissProt - P53985 - - - ClinVar - SLC16A1 - - - IUPHAR - 988 - - - - - 1p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652 - Multiple endocrine neoplasia type 1 - - Disease - - - Disorder - - - - 22026581[PMID]_25824098[PMID] - - cyclin dependent kinase inhibitor 1B - CDKN1B - - KIP1 - P27KIP1 - - - gene with protein product - - - - ClinVar - CDKN1B - - - HGNC - 1785 - - - OMIM - 600778 - - - Reactome - P46527 - - - SwissProt - P46527 - - - Ensembl - ENSG00000111276 - - - Genatlas - CDKN1B - - - - - 12p13.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 19141585[PMID] - - cyclin dependent kinase inhibitor 1A - CDKN1A - - CAP20 - CIP1 - P21 - SDI1 - WAF1 - p21CIP1 - p21Cip1/Waf1 - p21 - Cdk-interacting protein 1 - - - gene with protein product - - - - ClinVar - CDKN1A - - - Ensembl - ENSG00000124762 - - - Genatlas - CDKN1A - - - HGNC - 1784 - - - OMIM - 116899 - - - Reactome - P38936 - - - SwissProt - P38936 - - - - - 6p21.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 19141585[PMID] - - cyclin dependent kinase inhibitor 2B - CDKN2B - - CDK4I - INK4B - MTS2 - P15 - TP15 - p15INK4b - - - gene with protein product - - - - ClinVar - CDKN2B - - - Ensembl - ENSG00000147883 - - - Genatlas - CDKN2B - - - HGNC - 1788 - - - OMIM - 600431 - - - Reactome - P42772 - - - SwissProt - P42772 - - - - - 9p21.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 19141585[PMID] - - cyclin dependent kinase inhibitor 2C - CDKN2C - - INK4C - p18 - - - gene with protein product - - - - Ensembl - ENSG00000123080 - - - Genatlas - CDKN2C - - - HGNC - 1789 - - - OMIM - 603369 - - - Reactome - P42773 - - - SwissProt - P42773 - - - ClinVar - CDKN2C - - - - - 1p32.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 20301710[PMID] - - menin 1 - MEN1 - - menin - - - gene with protein product - - - - Ensembl - ENSG00000133895 - - - Genatlas - MEN1 - - - HGNC - 7010 - - - OMIM - 613733 - - - Reactome - O00255 - - - SwissProt - O00255 - - - ClinVar - MEN1 - - - - - 11q13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=908 - Fragile X syndrome - - Malformation syndrome - - - Disorder - - - - 20301558[PMID] - - fragile X messenger ribonucleoprotein 1 - FMR1 - - FMRP - FRAXA - MGC87458 - - - gene with protein product - - - - Ensembl - ENSG00000102081 - - - Genatlas - FMR1 - - - HGNC - 3775 - - - OMIM - 309550 - - - SwissProt - Q06787 - - - ClinVar - FMR1 - - - - - Xq27.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 47 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47 - X-linked agammaglobulinemia - - Clinical subtype - - - Subtype of disorder - - - - 20301626[PMID] - - Bruton tyrosine kinase - BTK - - XLA - ATK - Bruton's tyrosine kinase - PSCTK1 - - - gene with protein product - - - - Ensembl - ENSG00000010671 - - - Genatlas - BTK - - - HGNC - 1133 - - - IUPHAR - 1948 - - - OMIM - 300300 - - - Reactome - Q06187 - - - SwissProt - Q06187 - - - ClinVar - BTK - - - - - Xq22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905 - Wilson disease - - Disease - - - Disorder - - - - 23333878[PMID]_22240481[PMID] - - ATPase copper transporting beta - ATP7B - - Wilson disease - copper pump 2 - copper-transporting ATPase 2 - - - gene with protein product - - - - IUPHAR - 853 - - - Ensembl - ENSG00000123191 - - - Genatlas - ATP7B - - - HGNC - 870 - - - OMIM - 606882 - - - Reactome - P35670 - - - SwissProt - P35670 - - - ClinVar - ATP7B - - - - - 13q14.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=792 - X-linked retinoschisis - - Malformation syndrome - - - Disorder - - - - - - retinoschisin 1 - RS1 - - XLRS1 - - - gene with protein product - - - - Ensembl - ENSG00000102104 - - - Genatlas - RS1 - - - HGNC - 10457 - - - OMIM - 300839 - - - SwissProt - O15537 - - - ClinVar - RS1 - - - - - Xp22.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=827 - Stargardt disease - - Disease - - - Disorder - - - - 15712225[PMID] - - cyclic nucleotide gated channel subunit beta 3 - CNGB3 - - - - gene with protein product - - - - ClinVar - CNGB3 - - - Ensembl - ENSG00000170289 - - - Genatlas - CNGB3 - - - HGNC - 2153 - - - IUPHAR - 399 - - - OMIM - 605080 - - - SwissProt - Q9NQW8 - - - - - 8q21.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - peripherin 2 - PRPH2 - - CACD2 - TSPAN22 - rd2 - retinal peripherin - tetraspanin-22 - choroidal dystrophy, central areolar 2 - - - gene with protein product - - - - ClinVar - PRPH2 - - - Ensembl - ENSG00000112619 - - - Genatlas - PRPH2 - - - HGNC - 9942 - - - OMIM - 179605 - - - SwissProt - P23942 - - - - - 6p21.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 20633576[PMID] - - ATP binding cassette subfamily A member 4 - ABCA4 - - ARMD2 - CORD3 - FFM - Stargardt disease - - - gene with protein product - - - - IUPHAR - 759 - - - Ensembl - ENSG00000198691 - - - Genatlas - ABCA4 - - - HGNC - 34 - - - OMIM - 601691 - - - Reactome - P78363 - - - SwissProt - P78363 - - - ClinVar - ABCA4 - - - - - 1p22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20633576[PMID] - - ELOVL fatty acid elongase 4 - ELOVL4 - - CT118 - cancer/testis antigen 118 - - - gene with protein product - - - - ClinVar - ELOVL4 - - - Ensembl - ENSG00000118402 - - - Genatlas - ELOVL4 - - - HGNC - 14415 - - - OMIM - 605512 - - - Reactome - Q9GZR5 - - - SwissProt - Q9GZR5 - - - - - 6q14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18654668[PMID] - - prominin 1 - PROM1 - - AC133 - CD133 - CORD12 - RP41 - AC133 antigen - Retinitis pigmentosa 41, Cone-rod dystrophy 12 - - - gene with protein product - - - - ClinVar - PROM1 - - - Ensembl - ENSG00000007062 - - - Genatlas - PROM1 - - - HGNC - 9454 - - - OMIM - 604365 - - - SwissProt - O43490 - - - - - 4p15.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 906 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=906 - Wiskott-Aldrich syndrome - - Disease - - - Disorder - - - - - - WASP actin nucleation promoting factor - WAS - - WASP - WASPA - eczema-thrombocytopenia - - - gene with protein product - - - - ClinVar - WAS - - - Ensembl - ENSG00000015285 - - - Genatlas - WAS - - - HGNC - 12731 - - - OMIM - 300392 - - - Reactome - P42768 - - - SwissProt - P42768 - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22231303[PMID] - - WAS/WASL interacting protein family member 1 - WIPF1 - - WIP - - - gene with protein product - - - - Ensembl - ENSG00000115935 - - - Genatlas - WIPF1 - - - HGNC - 12736 - - - OMIM - 602357 - - - Reactome - O43516 - - - SwissProt - O43516 - - - ClinVar - WIPF1 - - - - - 2q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904 - Williams syndrome - - Malformation syndrome - - - Disorder - - - - 9311751[PMID] - - syntaxin 1A - STX1A - - HPC-1 - p35-1 - - - gene with protein product - - - - Ensembl - ENSG00000106089 - - - Genatlas - STX1A - - - HGNC - 11433 - - - OMIM - 186590 - - - Reactome - Q16623 - - - SwissProt - Q16623 - - - ClinVar - STX1A - - - - - 7q11.23 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 20301427[PMID] - - transducin beta like 2 - TBL2 - - DKFZP43N024 - WBSCR13 - WS-betaTRP - Williams-Beuren syndrome chromosome region 13 - - - gene with protein product - - - - Ensembl - ENSG00000106638 - - - Genatlas - TBL2 - - - HGNC - 11586 - - - OMIM - 605842 - - - SwissProt - Q9Y4P3 - - - ClinVar - TBL2 - - - - - 7q11.23 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 15243160[PMID] - - GTF2I repeat domain containing 2 - GTF2IRD2 - - FLJ37938 - transcription factor GTF2IRD2 - GTF2IRD2A - - - gene with protein product - - - - HGNC - 30775 - - - Ensembl - ENSG00000196275 - - - OMIM - 608899 - - - SwissProt - Q86UP8 - - - - - 7q11.23 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 19897463[PMID] - - VPS37D subunit of ESCRT-I - VPS37D - - MGC35352 - - - gene with protein product - - - - Ensembl - ENSG00000176428 - - - SwissProt - Q86XT2 - - - HGNC - 18287 - - - OMIM - 610039 - - - - - 7q11.23 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 9782077[PMID] - - FKBP prolyl isomerase family member 6 (inactive) - FKBP6 - - FK506 binding protein 6 (36kD) - immunophilin FKBP36 - peptidylprolyl cis-trans isomerase - PPIase - FKBP36 - rotamase - - - gene with protein product - - - - Ensembl - ENSG00000077800 - - - SwissProt - O75344 - - - HGNC - 3722 - - - OMIM - 604839 - - - - - 7q11.23 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 20301427[PMID] - - replication factor C subunit 2 - RFC2 - - A1 - RFC40 - activator 1 - - - gene with protein product - - - - Genatlas - RFC2 - - - HGNC - 9970 - - - OMIM - 600404 - - - Reactome - P35250 - - - SwissProt - P35250 - - - Ensembl - ENSG00000049541 - - - ClinVar - RFC2 - - - - - 7q11.23 - 1 - - - - - Candidate gene tested in - - - Assessed - - - - 9311751[PMID] - - neutrophil cytosolic factor 1 - NCF1 - - NADPH oxidase organizer 2 - NCF1A - NOXO2 - SH3PXD1A - chronic granulomatous disease, autosomal 1 - p47phox - - - gene with protein product - - - - Ensembl - ENSG00000158517 - - - Genatlas - NCF1 - - - HGNC - 7660 - - - OMIM - 608512 - - - Reactome - P14598 - - - SwissProt - P14598 - - - ClinVar - NCF1 - - - - - 7q11.23 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 18398435[PMID] - - transmembrane protein 270 - TMEM270 - - MGC26719 - - - gene with protein product - - - - HGNC - 23018 - - - Ensembl - ENSG00000175877 - - - SwissProt - Q6UE05 - - - OMIM - 612547 - - - - - 7q11.23 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 8812460[PMID] - - eukaryotic translation initiation factor 4H - EIF4H - - KIAA0038 - WSCR1 - - - gene with protein product - - - - Ensembl - ENSG00000106682 - - - OMIM - 603431 - - - SwissProt - Q15056 - - - HGNC - 12741 - - - - - 7q11.23 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - DnaJ heat shock protein family (Hsp40) member C30 - DNAJC30 - - - - gene with protein product - - - - OMIM - 618202 - - - HGNC - 16410 - - - Ensembl - ENSG00000176410 - - - SwissProt - Q96LL9 - - - - - 7q11.23 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 18398435[PMID] - - methyltransferase like 27 - METTL27 - - - - gene with protein product - - - - Ensembl - ENSG00000165171 - - - OMIM - 612546 - - - HGNC - 19068 - - - SwissProt - Q8N6F8 - - - - - 7q11.23 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 11978965[PMID] - - BUD23 rRNA methyltransferase and ribosome maturation factor - BUD23 - - metastasis-related methyltransferase 1 - MGC19709 - MGC2022 - MGC5140 - WBMT - MERM1 - PP3381 - - - gene with protein product - - - - Ensembl - ENSG00000071462 - - - HGNC - 16405 - - - OMIM - 615733 - - - SwissProt - O43709 - - - - - 7q11.23 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 20301427[PMID] - - bromodomain adjacent to zinc finger domain 1B - BAZ1B - - WSTF - Williams-Beuren syndrome chromosome region 10 - Williams-Beuren syndrome chromosome region 9 - transcription factor WSTF - - - gene with protein product - - - - IUPHAR - 2774 - - - ClinVar - BAZ1B - - - Ensembl - ENSG00000009954 - - - Genatlas - BAZ1B - - - HGNC - 961 - - - OMIM - 605681 - - - Reactome - Q9UIG0 - - - SwissProt - Q9UIG0 - - - - - 7q11.23 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 20301427[PMID] - - CAP-Gly domain containing linker protein 2 - CLIP2 - - CLIP - CLIP-115 - KIAA0291 - WSCR3 - WSCR4 - - - gene with protein product - - - - ClinVar - CLIP2 - - - Ensembl - ENSG00000106665 - - - Genatlas - CLIP2 - - - HGNC - 2586 - - - OMIM - 603432 - - - SwissProt - Q9UDT6 - - - - - 7q11.23 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 20301427[PMID] - - elastin - ELN - - SVAS - WBS - WS - Williams-Beuren syndrome - supravalvular aortic stenosis - tropoelastin - - - gene with protein product - - - - ClinVar - ELN - - - Ensembl - ENSG00000049540 - - - Genatlas - ELN - - - HGNC - 3327 - - - OMIM - 130160 - - - Reactome - P15502 - - - SwissProt - P15502 - - - - - 7q11.23 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 20301427[PMID] - - general transcription factor IIi - GTF2I - - BAP-135 - BTKAP1 - DIWS - IB291 - SPIN - TFII-I - - - gene with protein product - - - - Reactome - P78347 - - - ClinVar - GTF2I - - - SwissProt - P78347 - - - Ensembl - ENSG00000263001 - - - Genatlas - GTF2I - - - HGNC - 4659 - - - OMIM - 601679 - - - - - 7q11.23 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 20301427[PMID] - - GTF2I repeat domain containing 1 - GTF2IRD1 - - BEN - Cream1 - GTF3 - MusTRD1 - RBAP2 - WBSCR12 - binding factor for early enhancer - - - gene with protein product - - - - Reactome - Q9UHL9 - - - ClinVar - GTF2IRD1 - - - Ensembl - ENSG00000006704 - - - Genatlas - GTF2IRD1 - - - HGNC - 4661 - - - OMIM - 604318 - - - SwissProt - Q9UHL9 - - - - - 7q11.23 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 20301427[PMID] - - LIM domain kinase 1 - LIMK1 - - LIMK - - - gene with protein product - - - - ClinVar - LIMK1 - - - Ensembl - ENSG00000106683 - - - Genatlas - LIMK1 - - - HGNC - 6613 - - - IUPHAR - 2054 - - - OMIM - 601329 - - - Reactome - P53667 - - - SwissProt - P53667 - - - - - 7q11.23 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280 - Wolf-Hirschhorn syndrome - - Malformation syndrome - - - Disorder - - - - 26239400[PMID] - - phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) - PIGG - - LAS21 (GPI7) homolog (S. cerevisiae) - FLJ20265 - GPI7 - LAS21 - GPI ethanolamine phosphate transferase 2 - - - gene with protein product - - - - SwissProt - Q5H8A4 - - - OMIM - 616918 - - - Genatlas - PIGG - - - Reactome - Q5H8A4 - - - ClinVar - PIGG - - - HGNC - 25985 - - - Ensembl - ENSG00000174227 - - - - - 4p16.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 26239400[PMID] - - complexin 1 - CPLX1 - - CPX-I - - - gene with protein product - - - - HGNC - 2309 - - - Ensembl - ENSG00000168993 - - - SwissProt - O14810 - - - OMIM - 605032 - - - Genatlas - CPLX1 - - - Reactome - O14810 - - - ClinVar - CPLX1 - - - - - 4p16.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 26239400[PMID] - - C-terminal binding protein 1 - CTBP1 - - BARS - brefeldin A-ribosylated substrate - - - gene with protein product - - - - HGNC - 2494 - - - OMIM - 602618 - - - SwissProt - Q13363 - - - Reactome - Q13363 - - - Ensembl - ENSG00000159692 - - - - - 4p16.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - nuclear receptor binding SET domain protein 2 - NSD2 - - KMT3G - MMSET - multiple myeloma SET domain containing protein - - - gene with protein product - - - - IUPHAR - 3220 - - - ClinVar - WHSC1 - - - Ensembl - ENSG00000109685 - - - Genatlas - WHSC1 - - - HGNC - 12766 - - - OMIM - 602952 - - - Reactome - O96028 - - - SwissProt - O96028 - - - - - 4p16.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - negative elongation factor complex member A - NELFA - - NELF-A - - - gene with protein product - - - - ClinVar - NELFA - - - SwissProt - Q9H3P2 - - - Ensembl - ENSG00000185049 - - - Genatlas - NELFA - - - HGNC - 12768 - - - OMIM - 606026 - - - Reactome - Q9H3P2 - - - - - 4p16.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - leucine zipper and EF-hand containing transmembrane protein 1 - LETM1 - - Mdm38 homolog (yeast) - Mdm38 - SLC55A1 - - - gene with protein product - - - - Reactome - O95202 - - - ClinVar - LETM1 - - - IUPHAR - 3025 - - - Ensembl - ENSG00000168924 - - - Genatlas - LETM1 - - - HGNC - 6556 - - - OMIM - 604407 - - - SwissProt - O95202 - - - - - 4p16.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 15 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=15 - Achondroplasia - - Disease - - - Disorder - - - - 23149434[PMID] - - fibroblast growth factor receptor 3 - FGFR3 - - CD333 - CEK2 - JTK4 - - - gene with protein product - - - - Ensembl - ENSG00000068078 - - - Genatlas - FGFR3 - - - HGNC - 3690 - - - IUPHAR - 1810 - - - OMIM - 134934 - - - Reactome - P22607 - - - SwissProt - P22607 - - - ClinVar - FGFR3 - - - - - 4p16.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 96 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96 - Ataxia with vitamin E deficiency - - Disease - - - Disorder - - - - - - alpha tocopherol transfer protein - TTPA - - - - gene with protein product - - - - Ensembl - ENSG00000137561 - - - Genatlas - TTPA - - - HGNC - 12404 - - - OMIM - 600415 - - - SwissProt - P49638 - - - ClinVar - TTPA - - - Reactome - P49638 - - - - - 8q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101 - Dentatorubral pallidoluysian atrophy - - Disease - - - Disorder - - - - - - atrophin 1 - ATN1 - - B37 - - - gene with protein product - - - - ClinVar - ATN1 - - - Ensembl - ENSG00000111676 - - - Genatlas - ATN1 - - - HGNC - 3033 - - - OMIM - 607462 - - - SwissProt - P54259 - - - Reactome - P54259 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276 - T-B+ severe combined immunodeficiency due to gamma chain deficiency - - Disease - - - Disorder - - - - - - interleukin 2 receptor subunit gamma - IL2RG - - CD132 - - - gene with protein product - - - - ClinVar - IL2RG - - - Ensembl - ENSG00000147168 - - - Genatlas - IL2RG - - - HGNC - 6010 - - - OMIM - 308380 - - - Reactome - P31785 - - - SwissProt - P31785 - - - IUPHAR - 2303 - - - - - Xq13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481 - Kennedy disease - - Disease - - - Disorder - - - - - - androgen receptor - AR - - AIS - HUMARA - Kennedy disease - NR3C4 - SMAX1 - testicular feminization - - - gene with protein product - - - - Ensembl - ENSG00000169083 - - - Genatlas - AR - - - HGNC - 644 - - - IUPHAR - 628 - - - OMIM - 313700 - - - Reactome - P10275 - - - SwissProt - P10275 - - - ClinVar - AR - - - - - Xq12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 664 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664 - Ornithine transcarbamylase deficiency - - Disease - - - Disorder - - - - 24006547[PMID] - - ornithine transcarbamylase - OTC - - OTCase - OTC1 - ornithine transcarbamylase deficiency - OTCD - - - gene with protein product - - - - Ensembl - ENSG00000036473 - - - Genatlas - OTC - - - HGNC - 8512 - - - OMIM - 300461 - - - Reactome - P00480 - - - SwissProt - P00480 - - - ClinVar - OTC - - - - - Xp11.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394 - Homocystinuria due to cystathionine beta-synthase deficiency - - Disease - - - Disorder - - - - 20301697[PMID] - - cystathionine beta-synthase - CBS - - HIP4 - - - gene with protein product - - - - Ensembl - ENSG00000160200 - - - Genatlas - CBS - - - HGNC - 1550 - - - OMIM - 613381 - - - Reactome - P35520 - - - SwissProt - P35520 - - - IUPHAR - 1443 - - - ClinVar - CBS - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508 - Donohue syndrome - - Malformation syndrome - - - Disorder - - - - 12023989[PMID] - - insulin receptor - INSR - - CD220 - - - gene with protein product - - - - ClinVar - INSR - - - OMIM - 147670 - - - Reactome - P06213 - - - SwissProt - P06213 - - - Ensembl - ENSG00000171105 - - - Genatlas - INSR - - - HGNC - 6091 - - - IUPHAR - 1800 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 163596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163596 - Hb Bart's hydrops fetalis - - Clinical subtype - - - Subtype of disorder - - - - - - hemoglobin subunit alpha 2 - HBA2 - - HBA-T2 - - - gene with protein product - - - - ClinVar - HBA2 - - - Ensembl - ENSG00000188536 - - - Genatlas - HBA2 - - - HGNC - 4824 - - - OMIM - 141850 - - - Reactome - P69905 - - - SwissProt - P69905 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - hemoglobin subunit alpha 1 - HBA1 - - HBA-T3 - - - gene with protein product - - - - ClinVar - HBA1 - - - Ensembl - ENSG00000206172 - - - Genatlas - HBA1 - - - HGNC - 4823 - - - OMIM - 141800 - - - Reactome - P69905 - - - SwissProt - P69905 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=429 - Hypochondroplasia - - Disease - - - Disorder - - - - 20301650[PMID]_23149434[PMID] - - fibroblast growth factor receptor 3 - FGFR3 - - CD333 - CEK2 - JTK4 - - - gene with protein product - - - - Ensembl - ENSG00000068078 - - - Genatlas - FGFR3 - - - HGNC - 3690 - - - IUPHAR - 1810 - - - OMIM - 134934 - - - Reactome - P22607 - - - SwissProt - P22607 - - - ClinVar - FGFR3 - - - - - 4p16.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 104 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104 - Leber hereditary optic neuropathy - - Disease - - - Disorder - - - - 28031252[PMID] - - NADH:ubiquinone oxidoreductase core subunit S2 - NDUFS2 - - CI-49 - NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial - complex I 49kDa subunit - - - gene with protein product - - - - ClinVar - NDUFS2 - - - Ensembl - ENSG00000158864 - - - Genatlas - NDUFS2 - - - HGNC - 7708 - - - OMIM - 602985 - - - Reactome - O75306 - - - SwissProt - O75306 - - - - - 1q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33465056[PMID] - - DnaJ heat shock protein family (Hsp40) member C30 - DNAJC30 - - - - gene with protein product - - - - OMIM - 618202 - - - HGNC - 16410 - - - Ensembl - ENSG00000176410 - - - SwissProt - Q96LL9 - - - - - 7q11.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301353[PMID] - - mitochondrially encoded ATP synthase membrane subunit 6 - MT-ATP6 - - ATP6 - ATPase-6 - Su6m - mitochondrially encoded ATP synthase membrane subunit a - - - gene with protein product - - - - ClinVar - MT-ATP6 - - - Ensembl - ENSG00000198899 - - - Genatlas - MT-ATP6 - - - HGNC - 7414 - - - OMIM - 516060 - - - Reactome - P00846 - - - SwissProt - P00846 - - - IUPHAR - 801 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 1322638[PMID] - - mitochondrially encoded cytochrome c oxidase I - MT-CO1 - - COI - COX1 - - - gene with protein product - - - - ClinVar - MT-CO1 - - - Ensembl - ENSG00000198804 - - - Genatlas - MT-CO1 - - - HGNC - 7419 - - - OMIM - 516030 - - - Reactome - P00395 - - - SwissProt - P00395 - - - - - mitochondria - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 20301353[PMID] - - mitochondrially encoded cytochrome c oxidase III - MT-CO3 - - CO3 - COIII - COX3 - - - gene with protein product - - - - ClinVar - MT-CO3 - - - Ensembl - ENSG00000198938 - - - Genatlas - MT-CO3 - - - HGNC - 7422 - - - OMIM - 516050 - - - Reactome - P00414 - - - SwissProt - P00414 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301353[PMID] - - mitochondrially encoded cytochrome b - MT-CYB - - COB - CYTB - UQCR3 - - - gene with protein product - - - - ClinVar - MT-CYB - - - Ensembl - ENSG00000198727 - - - Genatlas - MT-CYB - - - HGNC - 7427 - - - OMIM - 516020 - - - Reactome - P00156 - - - SwissProt - P00156 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301353[PMID] - - mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 - MT-ND1 - - NAD1 - NADH-ubiquinone oxidoreductase chain 1 - ND1 - complex I ND1 subunit - - - gene with protein product - - - - ClinVar - MT-ND1 - - - Ensembl - ENSG00000198888 - - - Genatlas - MT-ND1 - - - HGNC - 7455 - - - OMIM - 516000 - - - Reactome - P03886 - - - SwissProt - P03886 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301353[PMID] - - mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 - MT-ND2 - - NAD2 - NADH-ubiquinone oxidoreductase chain 2 - ND2 - complex I ND2 subunit - - - gene with protein product - - - - ClinVar - MT-ND2 - - - Ensembl - ENSG00000198763 - - - Genatlas - MT-ND2 - - - HGNC - 7456 - - - OMIM - 516001 - - - Reactome - P03891 - - - SwissProt - P03891 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301353[PMID] - - mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 - MT-ND4 - - NAD4 - NADH-ubiquinone oxidoreductase chain 4 - ND4 - complex I ND4 subunit - - - gene with protein product - - - - ClinVar - MT-ND4 - - - Ensembl - ENSG00000198886 - - - Genatlas - MT-ND4 - - - HGNC - 7459 - - - OMIM - 516003 - - - Reactome - P03905 - - - SwissProt - P03905 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301353[PMID] - - mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L - MT-ND4L - - NAD4L - NADH-ubiquinone oxidoreductase chain 4L - ND4L - complex I ND4L subunit - - - gene with protein product - - - - ClinVar - MT-ND4L - - - HGNC - 7460 - - - OMIM - 516004 - - - Reactome - P03901 - - - SwissProt - P03901 - - - Ensembl - ENSG00000212907 - - - Genatlas - MT-ND4L - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301353[PMID] - - mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 - MT-ND5 - - NAD5 - NADH-ubiquinone oxidoreductase chain 5 - ND5 - complex I ND5 subunit - - - gene with protein product - - - - ClinVar - MT-ND5 - - - Ensembl - ENSG00000198786 - - - Genatlas - MT-ND5 - - - HGNC - 7461 - - - OMIM - 516005 - - - Reactome - P03915 - - - SwissProt - P03915 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301353[PMID] - - mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 - MT-ND6 - - NAD6 - NADH-ubiquinone oxidoreductase chain 6 - ND6 - complex I ND6 subunit - - - gene with protein product - - - - ClinVar - MT-ND6 - - - Ensembl - ENSG00000198695 - - - Genatlas - MT-ND6 - - - HGNC - 7462 - - - OMIM - 516006 - - - Reactome - P03923 - - - SwissProt - P03923 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2182 - Hydrocephalus with stenosis of the aqueduct of Sylvius - - Clinical subtype - - - Subtype of disorder - - - - 20301657[PMID] - - L1 cell adhesion molecule - L1CAM - - neural cell adhesion molecule L1 - CD171 - CAML1 - NCAM-L1 - - - gene with protein product - - - - ClinVar - L1CAM - - - Ensembl - ENSG00000198910 - - - Genatlas - L1CAM - - - HGNC - 6470 - - - OMIM - 308840 - - - Reactome - P32004 - - - SwissProt - P32004 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 163634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634 - Maffucci syndrome - - Disease - - - Disorder - - - - 22057234[PMID]_22057236[PMID] - - isocitrate dehydrogenase (NADP(+)) 2 - IDH2 - - IDH-2 - - - gene with protein product - - - - Ensembl - ENSG00000182054 - - - Genatlas - IDH2 - - - HGNC - 5383 - - - OMIM - 147650 - - - Reactome - P48735 - - - SwissProt - P48735 - - - IUPHAR - 2885 - - - ClinVar - IDH2 - - - - - 15q26.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 22057234[PMID]_22057236[PMID] - - isocitrate dehydrogenase (NADP(+)) 1 - IDH1 - - - - gene with protein product - - - - IUPHAR - 2884 - - - Ensembl - ENSG00000138413 - - - Genatlas - IDH1 - - - HGNC - 5382 - - - OMIM - 147700 - - - Reactome - O75874 - - - SwissProt - O75874 - - - ClinVar - IDH1 - - - - - 2q34 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 163717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163717 - Familial mesial temporal lobe epilepsy - - Disease - - - Disorder - - - - 21922598[PMID] - - carboxypeptidase A6 - CPA6 - - CPAH - - - gene with protein product - - - - SwissProt - Q8N4T0 - - - IUPHAR - 1592 - - - ClinVar - CPA6 - - - Ensembl - ENSG00000165078 - - - Genatlas - CPA6 - - - HGNC - 17245 - - - OMIM - 609562 - - - - - 8q13.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649 - Norrie disease - - Malformation syndrome - - - Disorder - - - - 9228243[PMID]_20301506[PMID] - - norrin cystine knot growth factor NDP - NDP - - norrin - - - gene with protein product - - - - Reactome - Q00604 - - - ClinVar - NDP - - - Ensembl - ENSG00000124479 - - - Genatlas - NDP - - - HGNC - 7678 - - - OMIM - 300658 - - - SwissProt - Q00604 - - - - - Xp11.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 163727 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163727 - Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome - - Disease - - - Disorder - - - - 31257402[PMID] - - TBC1 domain family member 24 - TBC1D24 - - DFNA65 - KIAA1171 - TBC/LysM-associated domain containing 6 - TLDC6 - skywalker homolog (Drosophila) - deafness, autosomal dominant 65 - - - gene with protein product - - - - ClinVar - TBC1D24 - - - Reactome - Q9ULP9 - - - Ensembl - ENSG00000162065 - - - Genatlas - TBC1D24 - - - HGNC - 29203 - - - OMIM - 613577 - - - SwissProt - Q9ULP9 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 163721 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163721 - Rolandic epilepsy-speech dyspraxia syndrome - - Disease - - - Disorder - - - - 16497722[PMID] - - sushi repeat containing protein X-linked 2 - SRPX2 - - SRPUL - - - gene with protein product - - - - Ensembl - ENSG00000102359 - - - Genatlas - SRPX2 - - - HGNC - 30668 - - - OMIM - 300642 - - - SwissProt - O60687 - - - ClinVar - SRPX2 - - - - - Xq22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23933818[PMID] - - glutamate ionotropic receptor NMDA type subunit 2A - GRIN2A - - GluN2A - NR2A - - - gene with protein product - - - - ClinVar - GRIN2A - - - Ensembl - ENSG00000183454 - - - Genatlas - GRIN2A - - - HGNC - 4585 - - - IUPHAR - 456 - - - OMIM - 138253 - - - Reactome - Q12879 - - - SwissProt - Q12879 - - - - - 16p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 163684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163684 - Leukoencephalopathy-dystonia-motor neuropathy syndrome - - Disease - - - Disorder - - - - 16685654[PMID] - - sterol carrier protein 2 - SCP2 - - - - gene with protein product - - - - ClinVar - SCP2 - - - Ensembl - ENSG00000116171 - - - Genatlas - SCP2 - - - HGNC - 10606 - - - OMIM - 184755 - - - Reactome - P22307 - - - SwissProt - P22307 - - - - - 1p32.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 163681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163681 - CNTNAP2-related developmental and epileptic encephalopathy - - Disease - - - Disorder - - - - 16571880[PMID] - - contactin associated protein 2 - CNTNAP2 - - Caspr2 - KIAA0868 - NRXN4 - contactin-associated protein-like 2 - - - gene with protein product - - - - ClinVar - CNTNAP2 - - - Ensembl - ENSG00000174469 - - - Genatlas - CNTNAP2 - - - HGNC - 13830 - - - OMIM - 604569 - - - SwissProt - Q9UHC6 - - - - - 7q35-q36.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 379 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=379 - Chronic granulomatous disease - - Disease - - - Disorder - - - - 22876374[PMID] - - cytochrome b-245 beta chain - CYBB - - NADPH oxidase 2 - GP91-PHOX - NOX2 - GP91PHOX - p91-PHOX - Cytochrome b-245 heavy chain - Cytochrome b558 subunit beta - - - gene with protein product - - - - Ensembl - ENSG00000165168 - - - IUPHAR - 3002 - - - Genatlas - CYBB - - - HGNC - 2578 - - - OMIM - 300481 - - - Reactome - P04839 - - - SwissProt - P04839 - - - ClinVar - CYBB - - - - - Xp21.1-p11.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22876374[PMID] - - neutrophil cytosolic factor 1 - NCF1 - - NADPH oxidase organizer 2 - NCF1A - NOXO2 - SH3PXD1A - chronic granulomatous disease, autosomal 1 - p47phox - - - gene with protein product - - - - Ensembl - ENSG00000158517 - - - Genatlas - NCF1 - - - HGNC - 7660 - - - OMIM - 608512 - - - Reactome - P14598 - - - SwissProt - P14598 - - - ClinVar - NCF1 - - - - - 7q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22876374[PMID] - - neutrophil cytosolic factor 2 - NCF2 - - chronic granulomatous disease, autosomal 2 - p67phox - NADPH oxidase activator 2 - NOXA2 - - - gene with protein product - - - - Ensembl - ENSG00000116701 - - - Genatlas - NCF2 - - - ClinVar - NCF2 - - - HGNC - 7661 - - - OMIM - 608515 - - - Reactome - P19878 - - - SwissProt - P19878 - - - - - 1q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22876374[PMID] - - cytochrome b-245 alpha chain - CYBA - - flavocytochrome b-558 alpha polypeptide - p22-PHOX - p22phox - Cytochrome b-245 light chain - - - gene with protein product - - - - Ensembl - ENSG00000051523 - - - Genatlas - CYBA - - - HGNC - 2577 - - - OMIM - 608508 - - - Reactome - P13498 - - - SwissProt - P13498 - - - ClinVar - CYBA - - - - - 16q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22876374[PMID] - - neutrophil cytosolic factor 4 - NCF4 - - SH3PXD4 - neutrophil NADPH oxidase factor 4 - p40phox - - - gene with protein product - - - - Ensembl - ENSG00000100365 - - - Genatlas - NCF4 - - - HGNC - 7662 - - - OMIM - 601488 - - - Reactome - Q15080 - - - SwissProt - Q15080 - - - ClinVar - NCF4 - - - - - 22q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30361506[PMID] - - cytochrome b-245 chaperone 1 - CYBC1 - - MGC4368 - FLJ90469 - Eros - - - gene with protein product - - - - HGNC - 28672 - - - Ensembl - ENSG00000178927 - - - SwissProt - Q9BQA9 - - - Reactome - Q9BQA9 - - - OMIM - 618334 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 16 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=16 - Blue cone monochromatism - - Disease - - - Disorder - - - - 15069569[PMID] - - opsin 1, medium wave sensitive - OPN1MW - - COD5 - OPN1MW1 - cone dystrophy 5 (X-linked) - - - gene with protein product - - - - IUPHAR - 2962 - - - Ensembl - ENSG00000268221 - - - Genatlas - OPN1MW - - - HGNC - 4206 - - - OMIM - 300821 - - - Reactome - P04001 - - - SwissProt - P04001 - - - ClinVar - OPN1MW - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15069569[PMID] - - opsin 1, long wave sensitive - OPN1LW - - COD5 - cone dystrophy 5 (X-linked) - - - gene with protein product - - - - Reactome - P04000 - - - SwissProt - P04000 - - - Ensembl - ENSG00000102076 - - - ClinVar - OPN1LW - - - Genatlas - OPN1LW - - - HGNC - 9936 - - - OMIM - 300822 - - - IUPHAR - 2961 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=644 - NARP syndrome - - Disease - - - Disorder - - - - 20301352[PMID] - - mitochondrially encoded ATP synthase membrane subunit 6 - MT-ATP6 - - ATP6 - ATPase-6 - Su6m - mitochondrially encoded ATP synthase membrane subunit a - - - gene with protein product - - - - ClinVar - MT-ATP6 - - - Ensembl - ENSG00000198899 - - - Genatlas - MT-ATP6 - - - HGNC - 7414 - - - OMIM - 516060 - - - Reactome - P00846 - - - SwissProt - P00846 - - - IUPHAR - 801 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 163699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163699 - Alveolar soft tissue sarcoma - - Disease - - - Disorder - - - - 21279521[PMID] - - transcription factor binding to IGHM enhancer 3 - TFE3 - - TFEA - bHLHe33 - transcription factor E family, member A - - - gene with protein product - - - - Reactome - P19532 - - - ClinVar - TFE3 - - - Ensembl - ENSG00000068323 - - - Genatlas - TFE3 - - - HGNC - 11752 - - - OMIM - 314310 - - - SwissProt - P19532 - - - - - Xp11.23 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 21279521[PMID] - - ASPSCR1 tether for SLC2A4, UBX domain containing - ASPSCR1 - - Tether containing UBX domain for GLUT4 - TUG - ASPL - ASPS - UBX domain protein 9 - UBXD9 - UBXN9 - - - gene with protein product - - - - OMIM - 606236 - - - Reactome - Q9BZE9 - - - SwissProt - Q9BZE9 - - - ClinVar - ASPSCR1 - - - Ensembl - ENSG00000169696 - - - Genatlas - ASPSCR1 - - - HGNC - 13825 - - - - - 17q25.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637 - Full NF2-related schwannomatosis - - Disease - - - Disorder - - - - 20301380[PMID] - - NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor - NF2 - - Merlin - moesin-ezrin-radixin like - schwannomin - ACN - BANF - SCH - merlin-1 - bilateral acoustic neurofibromatosis - merlin - - - gene with protein product - - - - Ensembl - ENSG00000186575 - - - Genatlas - NF2 - - - HGNC - 7773 - - - OMIM - 607379 - - - Reactome - P35240 - - - SwissProt - P35240 - - - ClinVar - NF2 - - - - - 22q12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 163696 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163696 - Action myoclonus-renal failure syndrome - - Disease - - - Disorder - - - - 26677510[PMID] - - scavenger receptor class B member 2 - SCARB2 - - lysosome membrane protein 2 - lysosomal integral membrane protein II - HLGP85 - LIMP-2 - LIMPII - SR-BII - - - gene with protein product - - - - ClinVar - SCARB2 - - - Reactome - Q14108 - - - Ensembl - ENSG00000138760 - - - Genatlas - SCARB2 - - - HGNC - 1665 - - - OMIM - 602257 - - - SwissProt - Q14108 - - - - - 4q21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181 - X-linked hypohidrotic ectodermal dysplasia - - Etiological subtype - - - Subtype of disorder - - - - - - ectodysplasin A - EDA - - ED1-A1 - ED1-A2 - EDA-A1 - EDA-A2 - EDA1 - HED - XHED - XLHED - - - gene with protein product - - - - Ensembl - ENSG00000158813 - - - Genatlas - EDA - - - HGNC - 3157 - - - OMIM - 300451 - - - Reactome - Q92838 - - - SwissProt - Q92838 - - - ClinVar - EDA - - - - - Xq13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22889853[PMID] - - ectodysplasin A2 receptor - EDA2R - - EDA-A2R - EDAA2R - TNFRSF27 - XEDAR - X-linked EDA receptor - - - gene with protein product - - - - IUPHAR - 1896 - - - Ensembl - ENSG00000131080 - - - Genatlas - EDA2R - - - HGNC - 17756 - - - OMIM - 300276 - - - Reactome - Q9HAV5 - - - SwissProt - Q9HAV5 - - - ClinVar - EDA2R - - - - - Xq12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 163693 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163693 - 2p21 microdeletion syndrome - - Disease - - - Disorder - - - - 11524703[PMID] - - solute carrier family 3 member 1 - SLC3A1 - - ATR1 - CSNU1 - D2H - NBAT - RBAT - neutral and basic amino acid transport protein rBAT - amino acid transporter 1 - - - gene with protein product - - - - Ensembl - ENSG00000138079 - - - Genatlas - SLC3A1 - - - HGNC - 11025 - - - OMIM - 104614 - - - Reactome - Q07837 - - - SwissProt - Q07837 - - - ClinVar - SLC3A1 - - - IUPHAR - 889 - - - - - 2p21 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 11524703[PMID] - - prolyl endopeptidase like - PREPL - - KIAA0436 - - - gene with protein product - - - - IUPHAR - 2870 - - - ClinVar - PREPL - - - Ensembl - ENSG00000138078 - - - Genatlas - PREPL - - - HGNC - 30228 - - - OMIM - 609557 - - - SwissProt - Q4J6C6 - - - - - 2p21 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 11524703[PMID] - - calmodulin-lysine N-methyltransferase - CAMKMT - - CLNMT - CaM KMT - - - gene with protein product - - - - Ensembl - ENSG00000143919 - - - Genatlas - C2orf34 - - - HGNC - 26276 - - - OMIM - 609559 - - - Reactome - Q7Z624 - - - SwissProt - Q7Z624 - - - ClinVar - C2orf34 - - - - - 2p21 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 11524703[PMID] - - protein phosphatase, Mg2+/Mn2+ dependent 1B - PPM1B - - PP2CB - PP2CBETA - PPC2BETAX - protein phosphatase 2C, beta isoform - - - gene with protein product - - - - Ensembl - ENSG00000138032 - - - Genatlas - PPM1B - - - HGNC - 9276 - - - OMIM - 603770 - - - Reactome - O75688 - - - SwissProt - O75688 - - - ClinVar - PPM1B - - - - - 2p21 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 163690 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163690 - Hypotonia-cystinuria syndrome - - Disease - - - Disorder - - - - 16385448[PMID] - - solute carrier family 3 member 1 - SLC3A1 - - ATR1 - CSNU1 - D2H - NBAT - RBAT - neutral and basic amino acid transport protein rBAT - amino acid transporter 1 - - - gene with protein product - - - - Ensembl - ENSG00000138079 - - - Genatlas - SLC3A1 - - - HGNC - 11025 - - - OMIM - 104614 - - - Reactome - Q07837 - - - SwissProt - Q07837 - - - ClinVar - SLC3A1 - - - IUPHAR - 889 - - - - - 2p21 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 16385448[PMID] - - prolyl endopeptidase like - PREPL - - KIAA0436 - - - gene with protein product - - - - IUPHAR - 2870 - - - ClinVar - PREPL - - - Ensembl - ENSG00000138078 - - - Genatlas - PREPL - - - HGNC - 30228 - - - OMIM - 609557 - - - SwissProt - Q4J6C6 - - - - - 2p21 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=337 - Fibrodysplasia ossificans progressiva - - Disease - - - Disorder - - - - 23011467[PMID] - - activin A receptor type 1 - ACVR1 - - ACVR1A - ALK2 - SKR1 - - - gene with protein product - - - - ClinVar - ACVR1 - - - Ensembl - ENSG00000115170 - - - Genatlas - ACVR1 - - - HGNC - 171 - - - IUPHAR - 1785 - - - OMIM - 102576 - - - SwissProt - Q04771 - - - - - 2q24.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=377 - Gorlin syndrome - - Malformation syndrome - - - Disorder - - - - 20301330[PMID]_19032739[PMID] - - patched 1 - PTCH1 - - BCNS - SLC65B1 - - - gene with protein product - - - - ClinVar - PTCH1 - - - Ensembl - ENSG00000185920 - - - Genatlas - PTCH1 - - - HGNC - 9585 - - - OMIM - 601309 - - - Reactome - Q13635 - - - SwissProt - Q13635 - - - - - 9q22.32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25403219[PMID]_19533801[PMID]_22829011[PMID] - - SUFU negative regulator of hedgehog signaling - SUFU - - PRO1280 - SUFUH - SUFUXL - - - gene with protein product - - - - Reactome - Q9UMX1 - - - SwissProt - Q9UMX1 - - - Ensembl - ENSG00000107882 - - - Genatlas - SUFU - - - HGNC - 16466 - - - OMIM - 607035 - - - ClinVar - SUFU - - - - - 10q24.32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 18285427[PMID]_23479190[PMID] - - patched 2 - PTCH2 - - SLC65B2 - - - gene with protein product - - - - ClinVar - PTCH2 - - - Ensembl - ENSG00000117425 - - - Genatlas - PTCH2 - - - HGNC - 9586 - - - OMIM - 603673 - - - Reactome - Q9Y6C5 - - - SwissProt - Q9Y6C5 - - - - - 1p34.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 - Noonan syndrome - - Malformation syndrome - - - Disorder - - - - 24705357[PMID] - - RAS related - RRAS - - R-Ras - Oncogene RRAS - RRAS1 - - - gene with protein product - - - - SwissProt - P10301 - - - Reactome - P10301 - - - Ensembl - ENSG00000126458 - - - ClinVar - RRAS - - - HGNC - 10447 - - - Genatlas - RRAS - - - OMIM - 165090 - - - - - 19q13.33 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 28289718[PMID] - - muscle RAS oncogene homolog - MRAS - - M-RAs - R-RAS3 - RRAS3 - - - gene with protein product - - - - SwissProt - O14807 - - - HGNC - 7227 - - - Ensembl - ENSG00000158186 - - - OMIM - 608435 - - - - - 3q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34626534[PMID] - - sprouty related EVH1 domain containing 2 - SPRED2 - - FLJ31917 - Spred-2 - FLJ21897 - - - gene with protein product - - - - HGNC - 17722 - - - Ensembl - ENSG00000198369 - - - OMIM - 609292 - - - SwissProt - Q7Z698 - - - - - 2p14 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31130285[PMID] - - RAS related 2 - RRAS2 - - TC21 - - - gene with protein product - - - - SwissProt - P62070 - - - HGNC - 17271 - - - OMIM - 600098 - - - Ensembl - ENSG00000133818 - - - - - 11p15.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19760651[PMID] - - protein tyrosine phosphatase non-receptor type 11 - PTPN11 - - BPTP3 - PTP2C - SH-PTP2 - SHP-2 - SHP2 - SH2 domain-containing protein tyrosine phosphatase 2 - - - gene with protein product - - - - ClinVar - PTPN11 - - - Ensembl - ENSG00000179295 - - - Genatlas - PTPN11 - - - HGNC - 9644 - - - OMIM - 176876 - - - Reactome - Q06124 - - - SwissProt - Q06124 - - - IUPHAR - 3203 - - - - - 12q24.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25952305[PMID] - - Cbl proto-oncogene - CBL - - RNF55 - c-Cbl - oncogene CBL2 - - - gene with protein product - - - - Ensembl - ENSG00000110395 - - - Genatlas - CBL - - - HGNC - 1541 - - - OMIM - 165360 - - - Reactome - P22681 - - - SwissProt - P22681 - - - ClinVar - CBL - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17143285[PMID] - - SOS Ras/Rac guanine nucleotide exchange factor 1 - SOS1 - - GF1 - HGF - - - gene with protein product - - - - ClinVar - SOS1 - - - IUPHAR - 3096 - - - Ensembl - ENSG00000115904 - - - Genatlas - SOS1 - - - HGNC - 11187 - - - OMIM - 182530 - - - Reactome - Q07889 - - - SwissProt - Q07889 - - - - - 2p22.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 16773572[PMID] - - KRAS proto-oncogene, GTPase - KRAS - - KRAS1 - K-Ras4B - - - gene with protein product - - - - IUPHAR - 2824 - - - ClinVar - KRAS - - - Ensembl - ENSG00000133703 - - - Genatlas - KRAS - - - HGNC - 6407 - - - OMIM - 190070 - - - Reactome - P01116 - - - SwissProt - P01116 - - - - - 12p12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17603483[PMID] - - Raf-1 proto-oncogene, serine/threonine kinase - RAF1 - - C-Raf proto-oncogene, serine/threonine kinase - CRAF - Raf-1 - c-Raf - - - gene with protein product - - - - ClinVar - RAF1 - - - Ensembl - ENSG00000132155 - - - Genatlas - RAF1 - - - HGNC - 9829 - - - IUPHAR - 2184 - - - OMIM - 164760 - - - Reactome - P04049 - - - SwissProt - P04049 - - - - - 3p25.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 19966803[PMID] - - NRAS proto-oncogene, GTPase - NRAS - - N-ras - - - gene with protein product - - - - HGNC - 7989 - - - OMIM - 164790 - - - Reactome - P01111 - - - SwissProt - P01111 - - - Ensembl - ENSG00000213281 - - - Genatlas - NRAS - - - ClinVar - NRAS - - - IUPHAR - 2823 - - - - - 1p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23791108[PMID] - - Ras like without CAAX 1 - RIT1 - - GTP-binding protein Roc1 - MGC125864 - MGC125865 - RIBB - ROC1 - Ric-like, expressed in many tissues - - - gene with protein product - - - - Reactome - Q92963 - - - SwissProt - Q92963 - - - Ensembl - ENSG00000143622 - - - Genatlas - RIT1 - - - HGNC - 10023 - - - OMIM - 609591 - - - ClinVar - RIT1 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 25795793[PMID] - - leucine zipper like post translational regulator 1 - LZTR1 - - BTBD29 - LZTR-1 - - - gene with protein product - - - - SwissProt - Q8N653 - - - Ensembl - ENSG00000099949 - - - Genatlas - LZTR1 - - - HGNC - 6742 - - - OMIM - 600574 - - - ClinVar - LZTR1 - - - - - 22q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25049390[PMID] - - RAS p21 protein activator 2 - RASA2 - - GAP1M - Ras GTPase-activating protein 2 - - - gene with protein product - - - - Ensembl - ENSG00000155903 - - - Genatlas - RASA2 - - - HGNC - 9872 - - - OMIM - 601589 - - - Reactome - Q15283 - - - SwissProt - Q15283 - - - ClinVar - RASA2 - - - - - 3q23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25795793[PMID] - - SOS Ras/Rho guanine nucleotide exchange factor 2 - SOS2 - - - - gene with protein product - - - - Ensembl - ENSG00000100485 - - - Genatlas - SOS2 - - - HGNC - 11188 - - - OMIM - 601247 - - - Reactome - Q07890 - - - SwissProt - Q07890 - - - ClinVar - SOS2 - - - - - 14q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19206169[PMID] - - B-Raf proto-oncogene, serine/threonine kinase - BRAF - - BRAF1 - BRAF-1 - - - gene with protein product - - - - Ensembl - ENSG00000157764 - - - Genatlas - BRAF - - - HGNC - 1097 - - - IUPHAR - 1943 - - - OMIM - 164757 - - - Reactome - P15056 - - - SwissProt - P15056 - - - ClinVar - BRAF - - - - - 7q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281 - Monosomy 5p syndrome - - Malformation syndrome - - - Disorder - - - - - - semaphorin 5A - SEMA5A - - semF - - - gene with protein product - - - - ClinVar - SEMA5A - - - Genatlas - SEMA5A - - - HGNC - 10736 - - - OMIM - 609297 - - - Reactome - Q13591 - - - SwissProt - Q13591 - - - Ensembl - ENSG00000112902 - - - - - 5p15.31 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - catenin delta 2 - CTNND2 - - GT24 - NPRAP - neural plakophilin-related arm-repeat protein - neurojungin - - - gene with protein product - - - - Ensembl - ENSG00000169862 - - - Genatlas - CTNND2 - - - HGNC - 2516 - - - OMIM - 604275 - - - SwissProt - Q9UQB3 - - - ClinVar - CTNND2 - - - - - 5p15.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 752 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=752 - 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency - - Disease - - - Disorder - - - - - - hydroxysteroid 17-beta dehydrogenase 3 - HSD17B3 - - SDR12C2 - short chain dehydrogenase/reductase family 12C, member 2 - - - gene with protein product - - - - SwissProt - P37058 - - - Ensembl - ENSG00000130948 - - - Genatlas - HSD17B3 - - - HGNC - 5212 - - - OMIM - 605573 - - - Reactome - P37058 - - - ClinVar - HSD17B3 - - - - - 9q22.32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=510 - Lesch-Nyhan syndrome - - Disease - - - Disorder - - - - - - hypoxanthine phosphoribosyltransferase 1 - HPRT1 - - HGPRT - Lesch-Nyhan syndrome - hypoxanthine guanine phosphoribosyl transferase - - - gene with protein product - - - - Ensembl - ENSG00000165704 - - - Genatlas - HPRT1 - - - HGNC - 5157 - - - OMIM - 308000 - - - Reactome - P00492 - - - SwissProt - P00492 - - - ClinVar - HPRT1 - - - - - Xq26.2-q26.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=524 - Li-Fraumeni syndrome - - Disease - - - Disorder - - - - 28592523[PMID]_29263814[PMID] - - cyclin dependent kinase inhibitor 2A - CDKN2A - - ARF - CDK4I - CMM2 - INK4 - INK4a - MTS1 - p14 - p14ARF - p16 - p16INK4a - p19 - p19Arf - inhibitor of cdk4 A - P16-INK4A - CDKN2A/ARF Intron 2 lncRNA - multiple tumour suppressor 1 - cyclin-dependent kinase 4 inhibitor A - p14 alternate open reading frame - p19 alternate open reading frame - CAI2 - - - gene with protein product - - - - Ensembl - ENSG00000147889 - - - Genatlas - CDKN2A - - - HGNC - 1787 - - - OMIM - 600160 - - - Reactome - P42771 - - - SwissProt - P42771 - - - ClinVar - CDKN2A - - - - - 9p21.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 23884452[PMID] - - MDM2 proto-oncogene - MDM2 - - HDM2 - MGC5370 - - - gene with protein product - - - - Ensembl - ENSG00000135679 - - - Genatlas - MDM2 - - - HGNC - 6973 - - - OMIM - 164785 - - - Reactome - Q00987 - - - SwissProt - Q00987 - - - IUPHAR - 3136 - - - ClinVar - MDM2 - - - - - 12q15 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 20301488[PMID] - - tumor protein p53 - TP53 - - LFS1 - Li-Fraumeni syndrome - P53 - p53 - - - gene with protein product - - - - Ensembl - ENSG00000141510 - - - Genatlas - TP53 - - - HGNC - 11998 - - - OMIM - 191170 - - - Reactome - P04637 - - - SwissProt - P04637 - - - ClinVar - TP53 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11719428[PMID]_21562711[PMID]_20301488[PMID] - - checkpoint kinase 2 - CHEK2 - - CDS1 - CHK2 - HuCds1 - PP1425 - bA444G7 - - - gene with protein product - - - - Ensembl - ENSG00000183765 - - - Genatlas - CHEK2 - - - HGNC - 16627 - - - IUPHAR - 1988 - - - OMIM - 604373 - - - Reactome - O96017 - - - SwissProt - O96017 - - - ClinVar - CHEK2 - - - - - 22q12.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 640 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=640 - Hereditary neuropathy with liability to pressure palsies - - Malformation syndrome - - - Disorder - - - - - - peripheral myelin protein 22 - PMP22 - - GAS3 - HNPP - Sp110 - HMSNIA - - - gene with protein product - - - - Reactome - Q01453 - - - ClinVar - PMP22 - - - Ensembl - ENSG00000109099 - - - Genatlas - PMP22 - - - HGNC - 9118 - - - OMIM - 601097 - - - SwissProt - Q01453 - - - - - 17p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - peripheral myelin protein 22 - PMP22 - - GAS3 - HNPP - Sp110 - HMSNIA - - - gene with protein product - - - - Reactome - Q01453 - - - ClinVar - PMP22 - - - Ensembl - ENSG00000109099 - - - Genatlas - PMP22 - - - HGNC - 9118 - - - OMIM - 601097 - - - SwissProt - Q01453 - - - - - 17p12 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 60 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60 - Alpha-1-antitrypsin deficiency - - Disease - - - Disorder - - - - 20301692[PMID] - - serpin family A member 1 - SERPINA1 - - A1A - A1AT - AAT - PI1 - alpha-1-antitrypsin - alpha1AT - protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin - alpha-1 antitrypsin - anti-elastase - protease inhibitor 1 - alpha-1 proteinase inhibitor - - - gene with protein product - - - - ClinVar - SERPINA1 - - - Ensembl - ENSG00000197249 - - - Genatlas - SERPINA1 - - - HGNC - 8941 - - - OMIM - 107400 - - - Reactome - P01009 - - - SwissProt - P01009 - - - - - 14q32.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 895 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=895 - Waardenburg syndrome type 2 - - Clinical subtype - - - Subtype of disorder - - - - 26522471[PMID] - - KIT ligand - KITLG - - SLF - FPH2 - KL-1 - Kitl - SCF - SF - familial progressive hyperpigmentation 2 - mast cell growth factor - steel factor - stem cell factor - DFNA69 - - - gene with protein product - - - - Ensembl - ENSG00000049130 - - - Genatlas - KITLG - - - HGNC - 6343 - - - OMIM - 184745 - - - Reactome - P21583 - - - SwissProt - P21583 - - - ClinVar - KITLG - - - - - 12q21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 9158138[PMID] - - tyrosinase - TYR - - OCA1 - OCA1A - OCAIA - oculocutaneous albinism IA - - - gene with protein product - - - - Ensembl - ENSG00000077498 - - - Genatlas - TYR - - - HGNC - 12442 - - - IUPHAR - 2643 - - - OMIM - 606933 - - - Reactome - P14679 - - - SwissProt - P14679 - - - ClinVar - TYR - - - - - 11q14.3 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 12444107[PMID] - - snail family transcriptional repressor 2 - SNAI2 - - SLUGH1 - SNAIL2 - SLUGH - - - gene with protein product - - - - ClinVar - SNAI2 - - - Reactome - O43623 - - - Ensembl - ENSG00000019549 - - - Genatlas - SNAI2 - - - HGNC - 11094 - - - OMIM - 602150 - - - SwissProt - O43623 - - - - - 8q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21898658[PMID]_17999358[PMID] - - SRY-box transcription factor 10 - SOX10 - - DOM - WS2E - WS4 - dominant megacolon, mouse, human homolog of - SOX-10 - - - gene with protein product - - - - ClinVar - SOX10 - - - Ensembl - ENSG00000100146 - - - Genatlas - SOX10 - - - HGNC - 11190 - - - OMIM - 602229 - - - SwissProt - P56693 - - - Reactome - P56693 - - - - - 22q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23098757[PMID] - - melanocyte inducing transcription factor - MITF - - MI - bHLHe32 - homolog of mouse microphthalmia - - - gene with protein product - - - - Ensembl - ENSG00000187098 - - - Genatlas - MITF - - - HGNC - 7105 - - - OMIM - 156845 - - - Reactome - O75030 - - - SwissProt - O75030 - - - ClinVar - MITF - - - - - 3p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28236341[PMID] - - endothelin receptor type B - EDNRB - - ETB - - - gene with protein product - - - - Reactome - P24530 - - - SwissProt - P24530 - - - Ensembl - ENSG00000136160 - - - Genatlas - EDNRB - - - HGNC - 3180 - - - IUPHAR - 220 - - - OMIM - 131244 - - - ClinVar - EDNRB - - - - - 13q22.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=896 - Waardenburg syndrome type 3 - - Clinical subtype - - - Subtype of disorder - - - - 8447316[PMID]_7726174[PMID]_12949970[PMID] - - paired box 3 - PAX3 - - HUP2 - PAX-3 - - - gene with protein product - - - - Ensembl - ENSG00000135903 - - - Genatlas - PAX3 - - - HGNC - 8617 - - - OMIM - 606597 - - - Reactome - P23760 - - - SwissProt - P23760 - - - ClinVar - PAX3 - - - - - 2q36.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857 - Townes-Brocks syndrome - - Malformation syndrome - - - Disorder - - - - 20301618[PMID] - - spalt like transcription factor 1 - SALL1 - - Hsal1 - ZNF794 - - - gene with protein product - - - - ClinVar - SALL1 - - - Reactome - Q9NSC2 - - - SwissProt - Q9NSC2 - - - Ensembl - ENSG00000103449 - - - Genatlas - SALL1 - - - HGNC - 10524 - - - OMIM - 602218 - - - - - 16q12.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 28054444[PMID] - - dishevelled binding antagonist of beta catenin 1 - DACT1 - - DAPPER - DAPPER1 - FRODO - HDPR1 - THYEX3 - - - gene with protein product - - - - Ensembl - ENSG00000165617 - - - Genatlas - DACT1 - - - HGNC - 17748 - - - OMIM - 607861 - - - Reactome - Q9NYF0 - - - SwissProt - Q9NYF0 - - - ClinVar - DACT1 - - - - - 14q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 894 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=894 - Waardenburg syndrome type 1 - - Clinical subtype - - - Subtype of disorder - - - - 20301703[PMID] - - paired box 3 - PAX3 - - HUP2 - PAX-3 - - - gene with protein product - - - - Ensembl - ENSG00000135903 - - - Genatlas - PAX3 - - - HGNC - 8617 - - - OMIM - 606597 - - - Reactome - P23760 - - - SwissProt - P23760 - - - ClinVar - PAX3 - - - - - 2q36.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=682 - Hyperkalemic periodic paralysis - - Disease - - - Disorder - - - - 20301669[PMID]_17395131[PMID] - - sodium voltage-gated channel alpha subunit 4 - SCN4A - - HYPP - Nav1.4 - SkM1 - - - gene with protein product - - - - ClinVar - SCN4A - - - Genatlas - SCN4A - - - HGNC - 10591 - - - IUPHAR - 581 - - - OMIM - 603967 - - - Reactome - P35499 - - - SwissProt - P35499 - - - Ensembl - ENSG00000007314 - - - - - 17q23.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 800 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=800 - Schwartz-Jampel syndrome - - Disease - - - Disorder - - - - 19367640[PMID] - - heparan sulfate proteoglycan 2 - HSPG2 - - PRCAN - perlecan - perlecan proteoglycan - endorepellin - - - gene with protein product - - - - ClinVar - HSPG2 - - - Ensembl - ENSG00000142798 - - - Genatlas - HSPG2 - - - HGNC - 5273 - - - OMIM - 142461 - - - Reactome - P98160 - - - SwissProt - P98160 - - - - - 1p36.12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=628 - Diastrophic dysplasia - - Disease - - - Disorder - - - - 20301524[PMID] - - solute carrier family 26 member 2 - SLC26A2 - - DTDST - diastrophic dysplasia sulfate transporter - - - gene with protein product - - - - Ensembl - ENSG00000155850 - - - Genatlas - SLC26A2 - - - HGNC - 10994 - - - OMIM - 606718 - - - Reactome - P50443 - - - SwissProt - P50443 - - - ClinVar - SLC26A2 - - - IUPHAR - 1098 - - - - - 5q32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=681 - Hypokalemic periodic paralysis - - Disease - - - Disorder - - - - 20301512[PMID] - - sodium voltage-gated channel alpha subunit 4 - SCN4A - - HYPP - Nav1.4 - SkM1 - - - gene with protein product - - - - ClinVar - SCN4A - - - Genatlas - SCN4A - - - HGNC - 10591 - - - IUPHAR - 581 - - - OMIM - 603967 - - - Reactome - P35499 - - - SwissProt - P35499 - - - Ensembl - ENSG00000007314 - - - - - 17q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301512[PMID] - - calcium voltage-gated channel subunit alpha1 S - CACNA1S - - Cav1.1 - hypoPP - - - gene with protein product - - - - Ensembl - ENSG00000081248 - - - Genatlas - CACNA1S - - - HGNC - 1397 - - - IUPHAR - 528 - - - OMIM - 114208 - - - Reactome - Q13698 - - - SwissProt - Q13698 - - - ClinVar - CACNA1S - - - - - 1q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 14504341[PMID]_15037713[PMID] - - potassium voltage-gated channel subfamily E regulatory subunit 3 - KCNE3 - - HOKPP - MiRP2 - - - gene with protein product - - - - Ensembl - ENSG00000175538 - - - Genatlas - KCNE3 - - - HGNC - 6243 - - - OMIM - 604433 - - - Reactome - Q9Y6H6 - - - SwissProt - Q9Y6H6 - - - ClinVar - KCNE3 - - - - - 11q13.4 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107 - BOR syndrome - - Malformation syndrome - - - Disorder - - - - 20301554[PMID] - - SIX homeobox 1 - SIX1 - - - - gene with protein product - - - - Genatlas - SIX1 - - - HGNC - 10887 - - - OMIM - 601205 - - - SwissProt - Q15475 - - - Reactome - Q15475 - - - Ensembl - ENSG00000126778 - - - ClinVar - SIX1 - - - - - 14q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301554[PMID] - - EYA transcriptional coactivator and phosphatase 1 - EYA1 - - - - gene with protein product - - - - ClinVar - EYA1 - - - Ensembl - ENSG00000104313 - - - Genatlas - EYA1 - - - HGNC - 3519 - - - OMIM - 601653 - - - Reactome - Q99502 - - - SwissProt - Q99502 - - - - - 8q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301554[PMID] - - SIX homeobox 5 - SIX5 - - - - gene with protein product - - - - Ensembl - ENSG00000177045 - - - Genatlas - SIX5 - - - HGNC - 10891 - - - OMIM - 600963 - - - SwissProt - Q8N196 - - - ClinVar - SIX5 - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 774 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=774 - Hereditary hemorrhagic telangiectasia - - Disease - - - Disorder - - - - 20301525[PMID] - - activin A receptor like type 1 - ACVRL1 - - activin receptor-like kinase 1 - ALK1 - HHT - HHT2 - - - gene with protein product - - - - ClinVar - ACVRL1 - - - Ensembl - ENSG00000139567 - - - Genatlas - ACVRL1 - - - HGNC - 175 - - - IUPHAR - 1784 - - - OMIM - 601284 - - - SwissProt - P37023 - - - Reactome - P37023 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301525[PMID] - - SMAD family member 4 - SMAD4 - - DPC4 - - - gene with protein product - - - - ClinVar - SMAD4 - - - Ensembl - ENSG00000141646 - - - Genatlas - SMAD4 - - - HGNC - 6770 - - - OMIM - 600993 - - - Reactome - Q13485 - - - SwissProt - Q13485 - - - - - 18q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301525[PMID] - - endoglin - ENG - - CD105 - END - HHT1 - - - gene with protein product - - - - Reactome - P17813 - - - IUPHAR - 2895 - - - ClinVar - ENG - - - Ensembl - ENSG00000106991 - - - Genatlas - ENG - - - HGNC - 3349 - - - OMIM - 131195 - - - SwissProt - P17813 - - - - - 9q34.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23972370[PMID] - - growth differentiation factor 2 - GDF2 - - BMP-9 - BMP9 - - - gene with protein product - - - - Reactome - Q9UK05 - - - Genatlas - GDF2 - - - HGNC - 4217 - - - OMIM - 605120 - - - SwissProt - Q9UK05 - - - Ensembl - ENSG00000263761 - - - ClinVar - GDF2 - - - - - 10q11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=794 - Saethre-Chotzen syndrome - - Malformation syndrome - - - Disorder - - - - - - fibroblast growth factor receptor 3 - FGFR3 - - CD333 - CEK2 - JTK4 - - - gene with protein product - - - - Ensembl - ENSG00000068078 - - - Genatlas - FGFR3 - - - HGNC - 3690 - - - IUPHAR - 1810 - - - OMIM - 134934 - - - Reactome - P22607 - - - SwissProt - P22607 - - - ClinVar - FGFR3 - - - - - 4p16.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 9585583[PMID]_10425034[PMID] - - fibroblast growth factor receptor 2 - FGFR2 - - CD332 - CEK3 - Crouzon syndrome - ECT1 - K-SAM - Pfeiffer syndrome - TK14 - TK25 - - - gene with protein product - - - - Ensembl - ENSG00000066468 - - - Genatlas - FGFR2 - - - HGNC - 3689 - - - IUPHAR - 1809 - - - OMIM - 176943 - - - Reactome - P21802 - - - SwissProt - P21802 - - - ClinVar - FGFR2 - - - - - 10q26.13 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 9585583[PMID] - - twist family bHLH transcription factor 1 - TWIST1 - - SCS - Saethre-Chotzen syndrome - bHLHa38 - BPES2 - CRS1 - H-twist - - - gene with protein product - - - - ClinVar - TWIST1 - - - Reactome - Q15672 - - - HGNC - 12428 - - - OMIM - 601622 - - - SwissProt - Q15672 - - - Ensembl - ENSG00000122691 - - - Genatlas - TWIST1 - - - - - 7p21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2869 - Peutz-Jeghers syndrome - - Disease - - - Disorder - - - - 9837816[PMID]_20581245[PMID]_20301443[PMID] - - serine/threonine kinase 11 - STK11 - - LKB1 - PJS - polarization-related protein LKB1 - - - gene with protein product - - - - Ensembl - ENSG00000118046 - - - Genatlas - STK11 - - - HGNC - 11389 - - - IUPHAR - 2212 - - - OMIM - 602216 - - - Reactome - Q15831 - - - SwissProt - Q15831 - - - ClinVar - STK11 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893 - WAGR syndrome - - Malformation syndrome - - - Disorder - - - - 20301534[PMID]_23266638[PMID] - - WT1 transcription factor - WT1 - - AWT1 - NPHS4 - WAGR - WIT-2 - WT-1 - - - gene with protein product - - - - ClinVar - WT1 - - - Ensembl - ENSG00000184937 - - - Genatlas - WT1 - - - HGNC - 12796 - - - OMIM - 607102 - - - SwissProt - P19544 - - - Reactome - P19544 - - - - - 11p13 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 20301534[PMID]_23266638[PMID] - - paired box 6 - PAX6 - - AN - D11S812E - WAGR - aniridia, keratitis - Aniridia 1 - Aniridia 2 - - - gene with protein product - - - - Ensembl - ENSG00000007372 - - - Genatlas - PAX6 - - - HGNC - 8620 - - - OMIM - 607108 - - - Reactome - P26367 - - - SwissProt - P26367 - - - ClinVar - PAX6 - - - - - 11p13 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 23266638[PMID]_18753648[PMID] - - brain derived neurotrophic factor - BDNF - - neurotrophin - - - gene with protein product - - - - ClinVar - BDNF - - - SwissProt - P23560 - - - Ensembl - ENSG00000176697 - - - Genatlas - BDNF - - - HGNC - 1033 - - - OMIM - 113505 - - - - - 11p14.1 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912 - Zellweger syndrome - - Disease - - - Disorder - - - - 22581968[PMID] - - peroxisomal biogenesis factor 11 beta - PEX11B - - PEX11ß - Peroxisomal membrane protein 11B - PEX11beta - - - gene with protein product - - - - Reactome - O96011 - - - Ensembl - ENSG00000131779 - - - Genatlas - PEX11B - - - HGNC - 8853 - - - OMIM - 603867 - - - SwissProt - O96011 - - - ClinVar - PEX11B - - - - - 1q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301621[PMID] - - peroxisomal biogenesis factor 2 - PEX2 - - PAF-1 - PMP35 - RNF72 - ZWS3 - Zellweger syndrome - peroxin 2 - - - gene with protein product - - - - ClinVar - PEX2 - - - ClinVar - - - - Reactome - P28328 - - - Ensembl - ENSG00000164751 - - - Genatlas - PXMP3 - - - HGNC - 9717 - - - OMIM - 170993 - - - SwissProt - P28328 - - - - - 8q21.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301621[PMID] - - peroxisomal biogenesis factor 1 - PEX1 - - - - gene with protein product - - - - Ensembl - ENSG00000127980 - - - Genatlas - PEX1 - - - HGNC - 8850 - - - OMIM - 602136 - - - SwissProt - O43933 - - - ClinVar - PEX1 - - - - - 7q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301621[PMID] - - peroxisomal biogenesis factor 10 - PEX10 - - RNF69 - - - gene with protein product - - - - Reactome - O60683 - - - Ensembl - ENSG00000157911 - - - Genatlas - PEX10 - - - HGNC - 8851 - - - OMIM - 602859 - - - SwissProt - O60683 - - - ClinVar - PEX10 - - - - - 1p36.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301621[PMID] - - peroxisomal biogenesis factor 12 - PEX12 - - - - gene with protein product - - - - Reactome - O00623 - - - ClinVar - PEX12 - - - Ensembl - ENSG00000108733 - - - Genatlas - PEX12 - - - HGNC - 8854 - - - OMIM - 601758 - - - SwissProt - O00623 - - - - - 17q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301621[PMID] - - peroxisomal biogenesis factor 13 - PEX13 - - - - gene with protein product - - - - OMIM - 601789 - - - SwissProt - Q92968 - - - Reactome - Q92968 - - - Ensembl - ENSG00000162928 - - - Genatlas - PEX13 - - - HGNC - 8855 - - - ClinVar - PEX13 - - - - - 2p15 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301621[PMID] - - peroxisomal biogenesis factor 14 - PEX14 - - - - gene with protein product - - - - Ensembl - ENSG00000142655 - - - Genatlas - PEX14 - - - HGNC - 8856 - - - OMIM - 601791 - - - SwissProt - O75381 - - - Reactome - O75381 - - - ClinVar - PEX14 - - - - - 1p36.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301621[PMID] - - peroxisomal biogenesis factor 16 - PEX16 - - - - gene with protein product - - - - Ensembl - ENSG00000121680 - - - Genatlas - PEX16 - - - HGNC - 8857 - - - OMIM - 603360 - - - SwissProt - Q9Y5Y5 - - - ClinVar - PEX16 - - - Reactome - Q9Y5Y5 - - - - - 11p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301621[PMID] - - peroxisomal biogenesis factor 19 - PEX19 - - D1S2223E - HK33 - PMP1 - PMPI - PXMP1 - housekeeping gene, 33kD - - - gene with protein product - - - - Ensembl - ENSG00000162735 - - - Genatlas - PEX19 - - - HGNC - 9713 - - - OMIM - 600279 - - - Reactome - P40855 - - - SwissProt - P40855 - - - ClinVar - PEX19 - - - - - 1q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301621[PMID] - - peroxisomal biogenesis factor 26 - PEX26 - - FLJ20695 - - - gene with protein product - - - - Reactome - Q7Z412 - - - HGNC - 22965 - - - OMIM - 608666 - - - SwissProt - Q7Z412 - - - Ensembl - ENSG00000215193 - - - Genatlas - PEX26 - - - ClinVar - PEX26 - - - - - 22q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301621[PMID] - - peroxisomal biogenesis factor 3 - PEX3 - - - - gene with protein product - - - - Ensembl - ENSG00000034693 - - - Genatlas - PEX3 - - - HGNC - 8858 - - - OMIM - 603164 - - - Reactome - P56589 - - - SwissProt - P56589 - - - ClinVar - PEX3 - - - - - 6q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301621[PMID] - - peroxisomal biogenesis factor 5 - PEX5 - - peroxisomal import receptor 5 - peroxisomal targeting signal 1 receptor - PTS1R - - - gene with protein product - - - - Reactome - P50542 - - - Ensembl - ENSG00000139197 - - - Genatlas - PEX5 - - - HGNC - 9719 - - - OMIM - 600414 - - - SwissProt - P50542 - - - ClinVar - PEX5 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301621[PMID] - - peroxisomal biogenesis factor 6 - PEX6 - - PAF-2 - PXAAA1 - - - gene with protein product - - - - Ensembl - ENSG00000124587 - - - Genatlas - PEX6 - - - HGNC - 8859 - - - OMIM - 601498 - - - SwissProt - Q13608 - - - ClinVar - PEX6 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 53 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53 - Albers-Schönberg osteopetrosis - - Malformation syndrome - - - Disorder - - - - 11741829[PMID]_20301306[PMID] - - chloride voltage-gated channel 7 - CLCN7 - - CLC-7 - CLC7 - OPTA2 - PPP1R63 - protein phosphatase 1, regulatory subunit 63 - ClC-7 - - - gene with protein product - - - - OMIM - 602727 - - - Reactome - P51798 - - - SwissProt - P51798 - - - Ensembl - ENSG00000103249 - - - Genatlas - CLCN7 - - - HGNC - 2025 - - - IUPHAR - 706 - - - ClinVar - CLCN7 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 14 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14 - Abetalipoproteinemia - - Disease - - - Disorder - - - - 22378282[PMID]_24288038[PMID]_23556456[PMID] - - microsomal triglyceride transfer protein - MTTP - - ABL - - - gene with protein product - - - - ClinVar - MTTP - - - Ensembl - ENSG00000138823 - - - Genatlas - MTTP - - - HGNC - 7467 - - - OMIM - 157147 - - - Reactome - P55157 - - - SwissProt - P55157 - - - - - 4q23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167 - Chédiak-Higashi syndrome - - Disease - - - Disorder - - - - 20368792[PMID] - - lysosomal trafficking regulator - LYST - - CHS - Mauve - - - gene with protein product - - - - ClinVar - LYST - - - Ensembl - ENSG00000143669 - - - Genatlas - LYST - - - HGNC - 1968 - - - OMIM - 606897 - - - SwissProt - Q99698 - - - - - 1q42.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207 - Crouzon syndrome - - Malformation syndrome - - - Disorder - - - - 20301628[PMID] - - fibroblast growth factor receptor 2 - FGFR2 - - CD332 - CEK3 - Crouzon syndrome - ECT1 - K-SAM - Pfeiffer syndrome - TK14 - TK25 - - - gene with protein product - - - - Ensembl - ENSG00000066468 - - - Genatlas - FGFR2 - - - HGNC - 3689 - - - IUPHAR - 1809 - - - OMIM - 176943 - - - Reactome - P21802 - - - SwissProt - P21802 - - - ClinVar - FGFR2 - - - - - 10q26.13 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 23354439[PMID] - - ETS2 repressor factor - ERF - - PE-2 - PE2 - - - gene with protein product - - - - ClinVar - ERF - - - Ensembl - ENSG00000105722 - - - Genatlas - ERF - - - HGNC - 3444 - - - OMIM - 611888 - - - Reactome - P50548 - - - SwissProt - P50548 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201 - Cowden syndrome - - Clinical subtype - - - Subtype of disorder - - - - - - phosphatase and tensin homolog - PTEN - - MMAC1 - PTEN1 - TEP1 - mutated in multiple advanced cancers 1 - Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN - - - gene with protein product - - - - IUPHAR - 2497 - - - ClinVar - PTEN - - - HGNC - 9588 - - - OMIM - 601728 - - - Reactome - P60484 - - - SwissProt - P60484 - - - Ensembl - ENSG00000171862 - - - Genatlas - PTEN - - - - - 10q23.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 28011713[PMID] - - upstream transcription factor family member 3 - USF3 - - - - gene with protein product - - - - HGNC - 30494 - - - Ensembl - ENSG00000176542 - - - SwissProt - Q68DE3 - - - OMIM - 617568 - - - - - 3q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23246288[PMID] - - phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha - PIK3CA - - PI3K - - - gene with protein product - - - - Reactome - P42336 - - - SwissProt - P42336 - - - Ensembl - ENSG00000121879 - - - Genatlas - PIK3CA - - - HGNC - 8975 - - - IUPHAR - 2153 - - - OMIM - 171834 - - - ClinVar - PIK3CA - - - - - 3q26.32 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - succinate dehydrogenase complex iron sulfur subunit B - SDHB - - iron-sulfur subunit of complex II - succinate dehydrogenase [ubiquinone] iron-sulfur subunit - - - gene with protein product - - - - ClinVar - SDHB - - - Reactome - P21912 - - - SwissProt - P21912 - - - Ensembl - ENSG00000117118 - - - Genatlas - SDHB - - - HGNC - 10681 - - - OMIM - 185470 - - - - - 1p36.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - succinate dehydrogenase complex subunit D - SDHD - - cybS - small subunit of cytochrome b - - - gene with protein product - - - - ClinVar - SDHD - - - Ensembl - ENSG00000204370 - - - Genatlas - SDHD - - - HGNC - 10683 - - - OMIM - 602690 - - - Reactome - O14521 - - - SwissProt - O14521 - - - - - 11q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21979946[PMID] - - succinate dehydrogenase complex subunit C - SDHC - - CYB560 - cybL - large subunit of cytochrome b - succinate dehydrgenase cytochrome b - succinate dehydrogenase cytochrome b560 subunit - - - gene with protein product - - - - ClinVar - SDHC - - - Ensembl - ENSG00000143252 - - - Genatlas - SDHC - - - HGNC - 10682 - - - OMIM - 602413 - - - Reactome - Q99643 - - - SwissProt - Q99643 - - - - - 1q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26522472[PMID] - - SEC23 homolog B, COPII coat complex component - SEC23B - - CDA-II - CDAII - HEMPAS - - - gene with protein product - - - - Reactome - Q15437 - - - Ensembl - ENSG00000101310 - - - Genatlas - SEC23B - - - HGNC - 10702 - - - OMIM - 610512 - - - SwissProt - Q15437 - - - ClinVar - SEC23B - - - - - 20p11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23246288[PMID] - - AKT serine/threonine kinase 1 - AKT1 - - RAC-alpha - AKT - PKB - PRKBA - RAC - protein kinase B - - - gene with protein product - - - - Ensembl - ENSG00000142208 - - - Genatlas - AKT1 - - - HGNC - 391 - - - IUPHAR - 1479 - - - OMIM - 164730 - - - Reactome - P31749 - - - SwissProt - P31749 - - - ClinVar - AKT1 - - - - - 14q32.33 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 21177507[PMID] - - killin, p53 regulated DNA replication inhibitor - KLLN - - killin - - - gene with protein product - - - - Ensembl - ENSG00000227268 - - - Genatlas - KLLN - - - HGNC - 37212 - - - OMIM - 612105 - - - SwissProt - B2CW77 - - - ClinVar - KLLN - - - - - 10q23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=192 - Coffin-Lowry syndrome - - Malformation syndrome - - - Disorder - - - - 20301520[PMID] - - ribosomal protein S6 kinase A3 - RPS6KA3 - - HU-3 - RSK - RSK2 - - - gene with protein product - - - - ClinVar - RPS6KA3 - - - HGNC - 10432 - - - IUPHAR - 1528 - - - OMIM - 300075 - - - Reactome - P51812 - - - SwissProt - P51812 - - - Ensembl - ENSG00000177189 - - - Genatlas - RPS6KA3 - - - - - Xp22.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 169808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169808 - Mild hemophilia A - - Clinical subtype - - - Subtype of disorder - - - - 20301578[PMID] - - coagulation factor VIII - F8 - - DXS1253E - FVIII - Factor VIIIF8B - HEMA - hemophilia A - - - gene with protein product - - - - ClinVar - F8 - - - Ensembl - ENSG00000185010 - - - Genatlas - F8 - - - HGNC - 3546 - - - IUPHAR - 2607 - - - OMIM - 300841 - - - Reactome - P00451 - - - SwissProt - P00451 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 169802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169802 - Severe hemophilia A - - Clinical subtype - - - Subtype of disorder - - - - 20301578[PMID] - - coagulation factor VIII - F8 - - DXS1253E - FVIII - Factor VIIIF8B - HEMA - hemophilia A - - - gene with protein product - - - - ClinVar - F8 - - - Ensembl - ENSG00000185010 - - - Genatlas - F8 - - - HGNC - 3546 - - - IUPHAR - 2607 - - - OMIM - 300841 - - - Reactome - P00451 - - - SwissProt - P00451 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 169805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169805 - Moderate hemophilia A - - Clinical subtype - - - Subtype of disorder - - - - 20301578[PMID] - - coagulation factor VIII - F8 - - DXS1253E - FVIII - Factor VIIIF8B - HEMA - hemophilia A - - - gene with protein product - - - - ClinVar - F8 - - - Ensembl - ENSG00000185010 - - - Genatlas - F8 - - - HGNC - 3546 - - - IUPHAR - 2607 - - - OMIM - 300841 - - - Reactome - P00451 - - - SwissProt - P00451 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 562 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562 - McCune-Albright syndrome - - Disease - - - Disorder - - - - 1594625[PMID]_1944469[PMID] - - GNAS complex locus - GNAS - - G protein subunit alpha S - GNASXL - GPSA - NESP - NESP55 - SCG6 - SgVI - secretogranin VI - - - gene with protein product - - - - ClinVar - GNAS - - - SwissProt - P63092 - - - SwissProt - P84996 - - - SwissProt - Q5JWF2 - - - Ensembl - ENSG00000087460 - - - Genatlas - GNAS - - - HGNC - 4392 - - - OMIM - 139320 - - - Reactome - P63092 - - - SwissProt - O95467 - - - - - 20q13.32 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 565 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565 - Menkes disease - - Disease - - - Disorder - - - - 20301586[PMID] - - ATPase copper transporting alpha - ATP7A - - copper pump 1 - copper-transporting ATPase 1 - - - gene with protein product - - - - IUPHAR - 852 - - - Ensembl - ENSG00000165240 - - - Genatlas - ATP7A - - - HGNC - 869 - - - OMIM - 300011 - - - Reactome - Q04656 - - - SwissProt - Q04656 - - - ClinVar - ATP7A - - - - - Xq21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474 - Jeune syndrome - - Malformation syndrome - - - Disorder - - - - 29138412[PMID] - - KIAA0753 - KIAA0753 - - MNR - moonraker - OFD1 and FOPNL interacting protein - OFIP - OFD1 and FOR20 interacting protein - - - gene with protein product - - - - HGNC - 29110 - - - Ensembl - ENSG00000198920 - - - ClinVar - KIAA0753 - - - Reactome - Q2KHM9 - - - OMIM - 617112 - - - Genatlas - KIAA0753 - - - SwissProt - Q2KHM9 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26077881[PMID] - - dynein cytoplasmic 2 light intermediate chain 1 - DYNC2LI1 - - CGI-60 - D2LIC - DKFZP564A033 - LIC3 - - - gene with protein product - - - - HGNC - 24595 - - - OMIM - 617083 - - - Genatlas - DYNC2LI1 - - - SwissProt - Q8TCX1 - - - Reactome - Q8TCX1 - - - Ensembl - ENSG00000138036 - - - ClinVar - DYNC2LI1 - - - - - 2p21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17468754[PMID] - - intraflagellar transport 80 - IFT80 - - KIAA1374 - CFAP167 - FAP167 - - - gene with protein product - - - - Ensembl - ENSG00000068885 - - - Genatlas - IFT80 - - - HGNC - 29262 - - - OMIM - 611177 - - - Reactome - Q9P2H3 - - - SwissProt - Q9P2H3 - - - ClinVar - IFT80 - - - - - 3q25.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23456818[PMID]_23339108[PMID] - - dynein cytoplasmic 2 heavy chain 1 - DYNC2H1 - - DHC1b - DHC2 - DYH1B - hdhc11 - - - gene with protein product - - - - Genatlas - DYNC2H1 - - - HGNC - 2962 - - - OMIM - 603297 - - - Reactome - Q8NCM8 - - - SwissProt - Q8NCM8 - - - ClinVar - DYNC2H1 - - - Ensembl - ENSG00000187240 - - - - - 11q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21258341[PMID]_22791528[PMID] - - tetratricopeptide repeat domain 21B - TTC21B - - CFAP60 - intraflagellar transport 139 homolog - Nephronophthisis type12 - IFT139 - tetratricopeptide repeat-containing hedgehog modulator-1 - FLJ11457 - IFT139B - JBTS11 - NPHP12 - THM1 - FAP60 - FLA17 - - - gene with protein product - - - - ClinVar - TTC21B - - - Ensembl - ENSG00000123607 - - - Genatlas - TTC21B - - - HGNC - 25660 - - - OMIM - 612014 - - - Reactome - Q7Z4L5 - - - SwissProt - Q7Z4L5 - - - - - 2q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22019273[PMID]_22791528[PMID] - - WD repeat domain 19 - WDR19 - - Pwdmp - intraflagellar transport 144 homolog (Chlamydomonas) - CFAP66 - DYF-2 - FLJ23127 - IFT144 - KIAA1638 - NPHP13 - ORF26 - Oseg6 - FAP66 - - - gene with protein product - - - - ClinVar - WDR19 - - - Reactome - Q8NEZ3 - - - SwissProt - Q8NEZ3 - - - Ensembl - ENSG00000157796 - - - Genatlas - WDR19 - - - HGNC - 18340 - - - OMIM - 608151 - - - - - 4p14 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22503633[PMID]_23418020[PMID]_24009529[PMID] - - intraflagellar transport 140 - IFT140 - - KIAA0590 - gs114 - - - gene with protein product - - - - Ensembl - ENSG00000187535 - - - Genatlas - IFT140 - - - HGNC - 29077 - - - OMIM - 614620 - - - Reactome - Q96RY7 - - - SwissProt - Q96RY7 - - - ClinVar - IFT140 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23910462[PMID] - - dynein 2 intermediate chain 1 - DYNC2I1 - - FLJ10300 - FAP163 - DIC6 - CFAP163 - - - gene with protein product - - - - Ensembl - ENSG00000126870 - - - Genatlas - WDR60 - - - HGNC - 21862 - - - OMIM - 615462 - - - Reactome - Q8WVS4 - - - SwissProt - Q8WVS4 - - - ClinVar - WDR60 - - - - - 7q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24140113[PMID] - - intraflagellar transport 172 - IFT172 - - NPHP17 - SLB - osm-1 - wim - wimple homolog - BBS20 - - - gene with protein product - - - - OMIM - 607386 - - - Reactome - Q9UG01 - - - SwissProt - Q9UG01 - - - ClinVar - IFT172 - - - Ensembl - ENSG00000138002 - - - Genatlas - IFT172 - - - HGNC - 30391 - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24183451[PMID] - - dynein 2 intermediate chain 2 - DYNC2I2 - - bA216B9.3 - DIC5 - FAP133 - MGC20486 - CFAP133 - - - gene with protein product - - - - ClinVar - WDR34 - - - Ensembl - ENSG00000119333 - - - Genatlas - WDR34 - - - HGNC - 28296 - - - OMIM - 613363 - - - Reactome - Q96EX3 - - - SwissProt - Q96EX3 - - - - - 9q34.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25361962[PMID] - - centrosomal protein 120 - CEP120 - - FLJ36090 - - - gene with protein product - - - - ClinVar - CEP120 - - - Ensembl - ENSG00000168944 - - - Genatlas - CEP120 - - - HGNC - 26690 - - - OMIM - 613446 - - - SwissProt - Q8N960 - - - - - 5q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=540 - Familial hemophagocytic lymphohistiocytosis - - Disease - - - Disorder - - - - 11179007[PMID] - - perforin 1 - PRF1 - - HPLH2 - P1 - PFP - Perforin - perforin 1 (preforming protein) - - - gene with protein product - - - - IUPHAR - 3100 - - - Ensembl - ENSG00000180644 - - - Genatlas - PRF1 - - - HGNC - 9360 - - - OMIM - 170280 - - - SwissProt - P14222 - - - ClinVar - PRF1 - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11179007[PMID] - - syntaxin 11 - STX11 - - - - gene with protein product - - - - Ensembl - ENSG00000135604 - - - Genatlas - STX11 - - - HGNC - 11429 - - - OMIM - 605014 - - - SwissProt - O75558 - - - Reactome - O75558 - - - ClinVar - STX11 - - - - - 6q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11179007[PMID] - - unc-13 homolog D - UNC13D - - Munc13-4 - - - gene with protein product - - - - ClinVar - UNC13D - - - Ensembl - ENSG00000092929 - - - Genatlas - UNC13D - - - HGNC - 23147 - - - OMIM - 608897 - - - SwissProt - Q70J99 - - - Reactome - Q70J99 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11179007[PMID] - - syntaxin binding protein 2 - STXBP2 - - Hunc18b - UNC18B - MUNC18-2 - Unc18-2 - - - gene with protein product - - - - Reactome - Q15833 - - - Ensembl - ENSG00000076944 - - - Genatlas - STXBP2 - - - HGNC - 11445 - - - OMIM - 601717 - - - SwissProt - Q15833 - - - ClinVar - STXBP2 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568 - Microphthalmia, Lenz type - - Malformation syndrome - - - Disorder - - - - 20301694[PMID]_15004558[PMID] - - BCL6 corepressor - BCOR - - BCL-6 coreceptor - BCL6 interacting corepressor - FLJ20285 - KIAA1575 - - - gene with protein product - - - - Reactome - Q6W2J9 - - - ClinVar - BCOR - - - Genatlas - BCOR - - - HGNC - 20893 - - - OMIM - 300485 - - - SwissProt - Q6W2J9 - - - Ensembl - ENSG00000183337 - - - - - Xp11.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24431331[PMID] - - N-alpha-acetyltransferase 10, NatA catalytic subunit - NAA10 - - DXS707 - TE2 - arrest defective protein 1 - - - gene with protein product - - - - Ensembl - ENSG00000102030 - - - Genatlas - ARD1A - - - HGNC - 18704 - - - OMIM - 300013 - - - SwissProt - P41227 - - - ClinVar - ARD1A - - - Reactome - P41227 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564 - Meckel syndrome - - Malformation syndrome - - - Disorder - - - - 27894351[PMID] - - thioredoxin domain containing 15 - TXNDC15 - - TMX5 - FLJ22625 - 2310047H23Rik - - - gene with protein product - - - - HGNC - 20652 - - - Ensembl - ENSG00000113621 - - - OMIM - 617778 - - - SwissProt - Q96J42 - - - - - 5q31.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 26123494[PMID] - - transmembrane protein 107 - TMEM107 - - MKS13 - MGC10744 - JBTS29 - - - gene with protein product - - - - Genatlas - TMEM107 - - - Reactome - Q6UX40 - - - OMIM - 616183 - - - ClinVar - TMEM107 - - - SwissProt - Q6UX40 - - - Ensembl - ENSG00000179029 - - - HGNC - 28128 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 28631893[PMID] - - tectonic family member 1 - TCTN1 - - FLJ21127 - JBTS13 - TECT1 - - - gene with protein product - - - - Ensembl - ENSG00000204852 - - - Genatlas - TCTN1 - - - HGNC - 26113 - - - OMIM - 609863 - - - Reactome - Q2MV58 - - - SwissProt - Q2MV58 - - - ClinVar - TCTN1 - - - - - 12q24.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 26729329[PMID] - - transmembrane protein 237 - TMEM237 - - JBTS14 - - - gene with protein product - - - - Ensembl - ENSG00000155755 - - - Genatlas - TMEM237 - - - HGNC - 14432 - - - OMIM - 614423 - - - SwissProt - Q96Q45 - - - ClinVar - TMEM237 - - - - - 2q33.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - RPGR interacting protein 1 - RPGRIP1 - - CORD13 - LCA6 - RGI1 - - - gene with protein product - - - - Reactome - Q96KN7 - - - Ensembl - ENSG00000092200 - - - Genatlas - RPGRIP1 - - - HGNC - 13436 - - - OMIM - 605446 - - - SwissProt - Q96KN7 - - - ClinVar - RPGRIP1 - - - - - 14q11.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 21110233[PMID]_19466712[PMID]_17564974[PMID] - - centrosomal protein 290 - CEP290 - - Bardet-Biedl syndrome 14 - cancer/testis antigen 87 - nephrocystin-6 - rd16 - 3H11Ag - BBS14 - CT87 - FLJ13615 - JBTS5 - Joubert syndrome 5 - KIAA0373 - LCA10 - MKS4 - Meckel syndrome, type 4 - NPHP6 - POC3 - POC3 centriolar protein homolog (Chlamydomonas) - SLSN6 - - - gene with protein product - - - - ClinVar - CEP290 - - - Ensembl - ENSG00000198707 - - - Genatlas - CEP290 - - - HGNC - 29021 - - - OMIM - 610142 - - - Reactome - O15078 - - - SwissProt - O15078 - - - - - 12q21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21110233[PMID]_19466712[PMID]_17389183[PMID] - - transmembrane protein 67 - TMEM67 - - NPHP11 - JBTS6 - MGC26979 - Meckelin - - - gene with protein product - - - - ClinVar - TMEM67 - - - Ensembl - ENSG00000164953 - - - Genatlas - TMEM67 - - - HGNC - 28396 - - - OMIM - 609884 - - - Reactome - Q5HYA8 - - - SwissProt - Q5HYA8 - - - - - 8q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21110233[PMID]_19466712[PMID]_17389183[PMID] - - MKS transition zone complex subunit 1 - MKS1 - - BBS13 - FLJ20345 - POC12 - POC12 centriolar protein homolog (Chlamydomonas) - - - gene with protein product - - - - Ensembl - ENSG00000011143 - - - ClinVar - MKS1 - - - Genatlas - MKS1 - - - HGNC - 7121 - - - OMIM - 609883 - - - Reactome - Q9NXB0 - - - SwissProt - Q9NXB0 - - - - - 17q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21110233[PMID]_17558409[PMID] - - RPGRIP1 like - RPGRIP1L - - CORS3 - FTM - JBTS7 - KIAA1005 - MKS5 - Meckel syndrome, type 5 - NPHP8 - PPP1R134 - fantom homolog - protein phosphatase 1, regulatory subunit 134 - - - gene with protein product - - - - ClinVar - RPGRIP1L - - - Ensembl - ENSG00000103494 - - - Genatlas - RPGRIP1L - - - HGNC - 29168 - - - OMIM - 610937 - - - Reactome - Q68CZ1 - - - SwissProt - Q68CZ1 - - - - - 16q12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21110233[PMID]_19466712[PMID] - - coiled-coil and C2 domain containing 2A - CC2D2A - - JBTS9 - KIAA1345 - MKS6 - Meckel syndrome, type 6 - - - gene with protein product - - - - ClinVar - CC2D2A - - - Reactome - Q9P2K1 - - - SwissProt - Q9P2K1 - - - Ensembl - ENSG00000048342 - - - Genatlas - CC2D2A - - - HGNC - 29253 - - - OMIM - 612013 - - - - - 4p15.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21110233[PMID]_20512146[PMID] - - transmembrane protein 216 - TMEM216 - - HSPC244 - JBTS2 - MGC13379 - - - gene with protein product - - - - ClinVar - TMEM216 - - - Ensembl - ENSG00000187049 - - - Genatlas - TMEM216 - - - HGNC - 25018 - - - OMIM - 613277 - - - Reactome - Q9P0N5 - - - SwissProt - Q9P0N5 - - - - - 11q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22883145[PMID] - - tectonic family member 3 - TCTN3 - - DKFZP564D116 - JBTS18 - TECT3 - - - gene with protein product - - - - ClinVar - TCTN3 - - - Ensembl - ENSG00000119977 - - - Genatlas - TCTN3 - - - HGNC - 24519 - - - OMIM - 613847 - - - Reactome - Q6NUS6 - - - SwissProt - Q6NUS6 - - - - - 10q24.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 21462283[PMID] - - tectonic family member 2 - TCTN2 - - FLJ12975 - JBTS24 - MKS8 - Meckel syndrome, type 8 - TECT2 - - - gene with protein product - - - - ClinVar - TCTN2 - - - Ensembl - ENSG00000168778 - - - Genatlas - TCTN2 - - - HGNC - 25774 - - - OMIM - 613846 - - - Reactome - Q96GX1 - - - SwissProt - Q96GX1 - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21493627[PMID] - - B9 domain containing 1 - B9D1 - - B9 - EPPB9 - MKS9 - endothelial precursor protein B9 - MKSR-1 - - - gene with protein product - - - - Ensembl - ENSG00000108641 - - - Genatlas - B9D1 - - - HGNC - 24123 - - - OMIM - 614144 - - - Reactome - Q9UPM9 - - - SwissProt - Q9UPM9 - - - ClinVar - B9D1 - - - - - 17p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21763481[PMID] - - B9 domain containing 2 - B9D2 - - MGC4093 - MKS10 - MKSR-2 - - - gene with protein product - - - - ClinVar - B9D2 - - - Reactome - Q9BPU9 - - - SwissProt - Q9BPU9 - - - Ensembl - ENSG00000123810 - - - Genatlas - B9D2 - - - HGNC - 28636 - - - OMIM - 611951 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23349226[PMID] - - transmembrane protein 231 - TMEM231 - - ALYE870 - FLJ22167 - JBTS20 - MKS11 - PRO1886 - - - gene with protein product - - - - Ensembl - ENSG00000205084 - - - Genatlas - TMEM231 - - - HGNC - 37234 - - - OMIM - 614949 - - - SwissProt - Q9H6L2 - - - ClinVar - TMEM231 - - - - - 16q23.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - centrosome and spindle pole associated protein 1 - CSPP1 - - CSPP - FLJ22490 - JBTS21 - CSPP-L - - - gene with protein product - - - - ClinVar - CSPP1 - - - Ensembl - ENSG00000104218 - - - Genatlas - CSPP1 - - - HGNC - 26193 - - - OMIM - 611654 - - - SwissProt - Q1MSJ5 - - - - - 8q13.1-q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289 - Ellis Van Creveld syndrome - - Malformation syndrome - - - Disorder - - - - 26130459[PMID] - - dynein cytoplasmic 2 light intermediate chain 1 - DYNC2LI1 - - CGI-60 - D2LIC - DKFZP564A033 - LIC3 - - - gene with protein product - - - - HGNC - 24595 - - - OMIM - 617083 - - - Genatlas - DYNC2LI1 - - - SwissProt - Q8TCX1 - - - Reactome - Q8TCX1 - - - Ensembl - ENSG00000138036 - - - ClinVar - DYNC2LI1 - - - - - 2p21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28973407[PMID] - - GLI family zinc finger 1 - GLI1 - - - - gene with protein product - - - - Ensembl - ENSG00000111087 - - - SwissProt - P08151 - - - OMIM - 165220 - - - Reactome - P08151 - - - ClinVar - GLI1 - - - HGNC - 4317 - - - Genatlas - GLI1 - - - - - 12q13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23220543[PMID]_22791528[PMID]_12571802[PMID] - - EvC ciliary complex subunit 2 - EVC2 - - LBN - limbin - - - gene with protein product - - - - Ensembl - ENSG00000173040 - - - Genatlas - EVC2 - - - HGNC - 19747 - - - OMIM - 607261 - - - Reactome - Q86UK5 - - - SwissProt - Q86UK5 - - - ClinVar - EVC2 - - - - - 4p16.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23220543[PMID]_22791528[PMID]_19744229[PMID] - - EvC ciliary complex subunit 1 - EVC - - DWF-1 - EVC1 - - - gene with protein product - - - - ClinVar - EVC - - - Ensembl - ENSG00000072840 - - - Genatlas - EVC - - - HGNC - 3497 - - - OMIM - 604831 - - - Reactome - P57679 - - - SwissProt - P57679 - - - - - 4p16.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33058759[PMID] - - protein kinase cAMP-activated catalytic subunit alpha - PRKACA - - PKA C-alpha - PKACa - cAMP-dependent protein kinase catalytic subunit alpha - - - gene with protein product - - - - Ensembl - ENSG00000072062 - - - Genatlas - PRKACA - - - HGNC - 9380 - - - IUPHAR - 1476 - - - OMIM - 601639 - - - Reactome - P17612 - - - SwissProt - P17612 - - - ClinVar - PRKACA - - - - - 19p13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33058759[PMID] - - protein kinase cAMP-activated catalytic subunit beta - PRKACB - - PKA C-beta - PKACb - cAMP-dependent protein kinase catalytic subunit beta - - - gene with protein product - - - - Ensembl - ENSG00000142875 - - - OMIM - 176892 - - - IUPHAR - 1477 - - - SwissProt - P22694 - - - HGNC - 9381 - - - - - 1p31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=258 - Laminin subunit alpha 2-related congenital muscular dystrophy - - Malformation syndrome - - - Disorder - - - - 24223650[PMID]_22675738[PMID] - - laminin subunit alpha 2 - LAMA2 - - congenital muscular dystrophy - merosin - - - gene with protein product - - - - ClinVar - LAMA2 - - - OMIM - 156225 - - - Reactome - P24043 - - - SwissProt - P24043 - - - Ensembl - ENSG00000196569 - - - Genatlas - LAMA2 - - - HGNC - 6482 - - - - - 6q22.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1646 - Chromosome Y microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - 19246359[PMID] - - azoospermia factor 1 - AZF1 - - AZFa - - - Disorder-associated locus - - - - Ensembl - - - - OMIM - - - - SwissProt - - - - HGNC - 908 - - - - - Yq11 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 20301513[PMID]_10581029[PMID]_22537385[PMID]_20671934[PMID] - - ubiquitin specific peptidase 9 Y-linked - USP9Y - - DFFRY - fat facets-like homolog (Drosophila) - FAF-Y - AZFA - azoospermia factor A - - - gene with protein product - - - - ClinVar - USP9Y - - - Ensembl - ENSG00000114374 - - - Genatlas - USP9Y - - - HGNC - 12633 - - - OMIM - 400005 - - - SwissProt - O00507 - - - - - Yq11.221 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 20671934[PMID]_11870237[PMID] - - deleted in azoospermia 1 - DAZ1 - - SPGY - - - gene with protein product - - - - ClinVar - DAZ1 - - - Ensembl - ENSG00000188120 - - - Genatlas - DAZ1 - - - HGNC - 2682 - - - OMIM - 400003 - - - SwissProt - Q9NQZ3 - - - - - Yq11.223 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 20671934[PMID]_11870237[PMID] - - deleted in azoospermia 2 - DAZ2 - - MGC126442 - pDP1678 - - - gene with protein product - - - - Ensembl - ENSG00000205944 - - - Genatlas - DAZ2 - - - HGNC - 15964 - - - OMIM - 400026 - - - SwissProt - Q13117 - - - ClinVar - DAZ2 - - - - - Yq11.223 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 20671934[PMID]_14639527[PMID] - - deleted in azoospermia 3 - DAZ3 - - - - gene with protein product - - - - Ensembl - ENSG00000187191 - - - Genatlas - DAZ3 - - - HGNC - 15965 - - - OMIM - 400027 - - - SwissProt - Q9NR90 - - - ClinVar - DAZ3 - - - - - Yq11.23 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 20671934[PMID]_14639527[PMID] - - deleted in azoospermia 4 - DAZ4 - - - - gene with protein product - - - - Ensembl - ENSG00000205916 - - - Genatlas - DAZ4 - - - HGNC - 15966 - - - SwissProt - Q86SG3 - - - OMIM - 400048 - - - ClinVar - DAZ4 - - - - - Yq11.23 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 22537385[PMID]_10767340[PMID]_20671934[PMID]_20301513[PMID] - - DEAD-box helicase 3 Y-linked - DDX3Y - - - - gene with protein product - - - - Ensembl - ENSG00000067048 - - - Genatlas - DDX3Y - - - HGNC - 2699 - - - OMIM - 400010 - - - SwissProt - O15523 - - - ClinVar - DDX3Y - - - - - Yq11.221 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 12525536[PMID]_20671934[PMID] - - RNA binding motif protein Y-linked family 1 member A1 - RBMY1A1 - - YRRM1 - YRRM2 - - - gene with protein product - - - - Reactome - P0DJD3 - - - ClinVar - RBMY1A1 - - - Ensembl - ENSG00000234414 - - - Genatlas - RBMY1A1 - - - HGNC - 9912 - - - OMIM - 400006 - - - SwissProt - P0DJD3 - - - - - Yq11.223 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 23307928[PMID] - - testis specific protein Y-linked 1 - TSPY1 - - CT78 - cancer/testis antigen 78 - - - gene with protein product - - - - Reactome - Q01534 - - - Ensembl - ENSG00000258992 - - - Genatlas - TSPY1 - - - HGNC - 12381 - - - OMIM - 480100 - - - SwissProt - Q01534 - - - ClinVar - TSPY1 - - - - - Yp11.2 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - - - 169464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169464 - Primary CD59 deficiency - - Disease - - - Disorder - - - - 23149847[PMID] - - CD59 molecule (CD59 blood group) - CD59 - - membrane attack complex inhibition factor - membrane inhibitor of reactive lysis - CD59 glycoprotein - 16.3A5 - EJ16 - EJ30 - EL32 - G344 - p18-20 - - - gene with protein product - - - - ClinVar - CD59 - - - HGNC - 1689 - - - OMIM - 107271 - - - Reactome - P13987 - - - SwissProt - P13987 - - - Ensembl - ENSG00000085063 - - - Genatlas - CD59 - - - - - 11p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 87 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87 - Apert syndrome - - Malformation syndrome - - - Disorder - - - - 20301628[PMID]_23593218[PMID]_15282208[PMID] - - fibroblast growth factor receptor 2 - FGFR2 - - CD332 - CEK3 - Crouzon syndrome - ECT1 - K-SAM - Pfeiffer syndrome - TK14 - TK25 - - - gene with protein product - - - - Ensembl - ENSG00000066468 - - - Genatlas - FGFR2 - - - HGNC - 3689 - - - IUPHAR - 1809 - - - OMIM - 176943 - - - Reactome - P21802 - - - SwissProt - P21802 - - - ClinVar - FGFR2 - - - - - 10q26.13 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 97 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97 - Familial paroxysmal ataxia - - Disease - - - Disorder - - - - 20301674[PMID] - - calcium voltage-gated channel subunit alpha1 A - CACNA1A - - APCA - Cav2.1 - EA2 - FHM - HPCA - - - gene with protein product - - - - ClinVar - CACNA1A - - - Ensembl - ENSG00000141837 - - - Genatlas - CACNA1A - - - HGNC - 1388 - - - IUPHAR - 532 - - - OMIM - 601011 - - - Reactome - O00555 - - - SwissProt - O00555 - - - - - 19p13.13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 169467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169467 - Recurrent Neisseria infections due to factor D deficiency - - Disease - - - Disorder - - - - 16527897[PMID] - - complement factor D - CFD - - ADN - adipsin - - - gene with protein product - - - - IUPHAR - 2842 - - - ClinVar - CFD - - - SwissProt - P00746 - - - Ensembl - ENSG00000197766 - - - Genatlas - CFD - - - HGNC - 2771 - - - OMIM - 134350 - - - Reactome - P00746 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313 - Lamellar ichthyosis - - Disease - - - Disorder - - - - 28575648[PMID] - - sulfotransferase family 2B member 1 - SULT2B1 - - HSST2 - - - gene with protein product - - - - ClinVar - SULT2B1 - - - HGNC - 11459 - - - Ensembl - ENSG00000088002 - - - SwissProt - O00204 - - - OMIM - 604125 - - - Genatlas - SULT2B1 - - - Reactome - O00204 - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 32516568[PMID] - - aspartic peptidase retroviral like 1 - ASPRV1 - - Skin ASpartic Protease - Taps - FLJ25084 - SASPase - - - gene with protein product - - - - HGNC - 26321 - - - Ensembl - ENSG00000244617 - - - OMIM - 611765 - - - SwissProt - Q53RT3 - - - - - 2p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28906551[PMID]_28369735[PMID] - - short chain dehydrogenase/reductase family 9C member 7 - SDR9C7 - - RDHS - SDR-O - - - gene with protein product - - - - OMIM - 609769 - - - Genatlas - SDR9C7 - - - Reactome - Q8NEX9 - - - ClinVar - SDR9C7 - - - HGNC - 29958 - - - Ensembl - ENSG00000170426 - - - SwissProt - Q8NEX9 - - - - - 12q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22739337[PMID]_20301593[PMID] - - ATP binding cassette subfamily A member 12 - ABCA12 - - DKFZP434G232 - LI2 - - - gene with protein product - - - - HGNC - 14637 - - - IUPHAR - 766 - - - OMIM - 607800 - - - Reactome - Q86UK0 - - - SwissProt - Q86UK0 - - - Ensembl - ENSG00000144452 - - - Genatlas - ABCA12 - - - ClinVar - ABCA12 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22739337[PMID]_20301593[PMID] - - arachidonate 12-lipoxygenase, 12R type - ALOX12B - - 12R-LOX - 12R-lipoxygenase - - - gene with protein product - - - - ClinVar - ALOX12B - - - Ensembl - ENSG00000179477 - - - Genatlas - ALOX12B - - - HGNC - 430 - - - OMIM - 603741 - - - Reactome - O75342 - - - SwissProt - O75342 - - - IUPHAR - 1386 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25423909[PMID]_21668430[PMID]_19131948[PMID] - - arachidonate epidermal lipoxygenase 3 - ALOXE3 - - E-LOX - eLOX3 - Epidermal lipoxygenase-3 - hydroperoxy icosatetraenoate isomerase - hydroperoxy icosatetraenoate dehydratase - hydroperoxide isomerase - - - gene with protein product - - - - Reactome - Q9BYJ1 - - - Ensembl - ENSG00000179148 - - - Genatlas - ALOXE3 - - - HGNC - 13743 - - - OMIM - 607206 - - - SwissProt - Q9BYJ1 - - - IUPHAR - 1390 - - - ClinVar - ALOXE3 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22739337[PMID]_20301593[PMID] - - transglutaminase 1 - TGM1 - - K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase - LI - LI1 - TGASE - TGK - - - gene with protein product - - - - ClinVar - TGM1 - - - Reactome - P22735 - - - Ensembl - ENSG00000092295 - - - Genatlas - TGM1 - - - HGNC - 11777 - - - OMIM - 190195 - - - SwissProt - P22735 - - - - - 14q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22739337[PMID]_20301593[PMID] - - cytochrome P450 family 4 subfamily F member 22 - CYP4F22 - - FLJ39501 - - - gene with protein product - - - - ClinVar - CYP4F22 - - - IUPHAR - 1349 - - - Ensembl - ENSG00000171954 - - - Genatlas - CYP4F22 - - - HGNC - 26820 - - - OMIM - 611495 - - - Reactome - Q6NT55 - - - SwissProt - Q6NT55 - - - - - 19p13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22739337[PMID]_20301593[PMID] - - NIPA like domain containing 4 - NIPAL4 - - ICHYN - ichthyin - SLC57A6 - NIPA4 - - - gene with protein product - - - - ClinVar - NIPAL4 - - - Ensembl - ENSG00000172548 - - - Genatlas - NIPAL4 - - - HGNC - 28018 - - - OMIM - 609383 - - - Reactome - Q0D2K0 - - - SwissProt - Q0D2K0 - - - IUPHAR - 3038 - - - - - 5q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21439540[PMID] - - lipase family member N - LIPN - - bA186O14.3 - - - gene with protein product - - - - ClinVar - LIPN - - - Ensembl - ENSG00000204020 - - - Genatlas - LIPN - - - HGNC - 23452 - - - OMIM - 613924 - - - Reactome - Q5VXI9 - - - SwissProt - Q5VXI9 - - - - - 10q23.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 169799 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169799 - Mild hemophilia B - - Clinical subtype - - - Subtype of disorder - - - - - - coagulation factor IX - F9 - - Christmas disease - FIX - Factor IX - hemophilia B - plasma thromboplastic component - - - gene with protein product - - - - ClinVar - F9 - - - Ensembl - ENSG00000101981 - - - Genatlas - F9 - - - HGNC - 3551 - - - IUPHAR - 2364 - - - OMIM - 300746 - - - Reactome - P00740 - - - SwissProt - P00740 - - - - - Xq27.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 169796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169796 - Moderate hemophilia B - - Clinical subtype - - - Subtype of disorder - - - - - - coagulation factor IX - F9 - - Christmas disease - FIX - Factor IX - hemophilia B - plasma thromboplastic component - - - gene with protein product - - - - ClinVar - F9 - - - Ensembl - ENSG00000101981 - - - Genatlas - F9 - - - HGNC - 3551 - - - IUPHAR - 2364 - - - OMIM - 300746 - - - Reactome - P00740 - - - SwissProt - P00740 - - - - - Xq27.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 169793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169793 - Severe hemophilia B - - Clinical subtype - - - Subtype of disorder - - - - - - coagulation factor IX - F9 - - Christmas disease - FIX - Factor IX - hemophilia B - plasma thromboplastic component - - - gene with protein product - - - - ClinVar - F9 - - - Ensembl - ENSG00000101981 - - - Genatlas - F9 - - - HGNC - 3551 - - - IUPHAR - 2364 - - - OMIM - 300746 - - - Reactome - P00740 - - - SwissProt - P00740 - - - - - Xq27.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1000 - Ocular albinism with late-onset sensorineural deafness - - Disease - - - Disorder - - - - - - adaptor related protein complex 3 subunit delta 1 - AP3D1 - - ADTD - - - gene with protein product - - - - Genatlas - AP3D1 - - - ClinVar - AP3D1 - - - Ensembl - ENSG00000065000 - - - OMIM - 607246 - - - SwissProt - O14617 - - - HGNC - 568 - - - - - 19p13.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 171430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171430 - Severe congenital nemaline myopathy - - Disease - - - Disorder - - - - - - actin alpha 1, skeletal muscle - ACTA1 - - NEM3 - nemaline myopathy type 3 - - - gene with protein product - - - - ClinVar - ACTA1 - - - OMIM - 102610 - - - Reactome - P68133 - - - SwissProt - P68133 - - - Ensembl - ENSG00000143632 - - - Genatlas - ACTA1 - - - HGNC - 129 - - - - - 1q42.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - nebulin - NEB - - NEB177D - nemaline myopathy type 2 - - - gene with protein product - - - - OMIM - 161650 - - - Reactome - P20929 - - - SwissProt - P20929 - - - Ensembl - ENSG00000183091 - - - Genatlas - NEB - - - HGNC - 7720 - - - ClinVar - NEB - - - - - 2q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23746549[PMID] - - kelch like family member 40 - KLHL40 - - NEM8 - SRYP - Sarcosynapsin - nemaline myopathy type 8 - sarcosynapsin - - - gene with protein product - - - - Ensembl - ENSG00000157119 - - - Genatlas - KLHL40 - - - HGNC - 30372 - - - OMIM - 615340 - - - SwissProt - Q2TBA0 - - - ClinVar - KLHL40 - - - - - 3p22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24268659[PMID] - - kelch like family member 41 - KLHL41 - - Krp1 - SARCOSIN - sarcomeric muscle protein - - - gene with protein product - - - - ClinVar - KLHL41 - - - SwissProt - O60662 - - - Ensembl - ENSG00000239474 - - - Genatlas - KLHL41 - - - HGNC - 16905 - - - OMIM - 607701 - - - Reactome - O60662 - - - - - 2q31.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25250574[PMID] - - leiomodin 3 - LMOD3 - - - - gene with protein product - - - - Ensembl - ENSG00000163380 - - - Genatlas - LMOD3 - - - HGNC - 6649 - - - OMIM - 616112 - - - SwissProt - Q0VAK6 - - - ClinVar - LMOD3 - - - - - 3p14.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 171433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171433 - Intermediate nemaline myopathy - - Disease - - - Disorder - - - - 18382475[PMID] - - tropomyosin 3 - TPM3 - - TRK - - - gene with protein product - - - - OMIM - 191030 - - - Reactome - P06753 - - - SwissProt - P06753 - - - Ensembl - ENSG00000143549 - - - Genatlas - TPM3 - - - HGNC - 12012 - - - ClinVar - TPM3 - - - - - 1q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - actin alpha 1, skeletal muscle - ACTA1 - - NEM3 - nemaline myopathy type 3 - - - gene with protein product - - - - ClinVar - ACTA1 - - - OMIM - 102610 - - - Reactome - P68133 - - - SwissProt - P68133 - - - Ensembl - ENSG00000143632 - - - Genatlas - ACTA1 - - - HGNC - 129 - - - - - 1q42.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - nebulin - NEB - - NEB177D - nemaline myopathy type 2 - - - gene with protein product - - - - OMIM - 161650 - - - Reactome - P20929 - - - SwissProt - P20929 - - - Ensembl - ENSG00000183091 - - - Genatlas - NEB - - - HGNC - 7720 - - - ClinVar - NEB - - - - - 2q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24268659[PMID] - - kelch like family member 41 - KLHL41 - - Krp1 - SARCOSIN - sarcomeric muscle protein - - - gene with protein product - - - - ClinVar - KLHL41 - - - SwissProt - O60662 - - - Ensembl - ENSG00000239474 - - - Genatlas - KLHL41 - - - HGNC - 16905 - - - OMIM - 607701 - - - Reactome - O60662 - - - - - 2q31.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 171436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171436 - Typical nemaline myopathy - - Disease - - - Disorder - - - - - - actin alpha 1, skeletal muscle - ACTA1 - - NEM3 - nemaline myopathy type 3 - - - gene with protein product - - - - ClinVar - ACTA1 - - - OMIM - 102610 - - - Reactome - P68133 - - - SwissProt - P68133 - - - Ensembl - ENSG00000143632 - - - Genatlas - ACTA1 - - - HGNC - 129 - - - - - 1q42.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17160903[PMID] - - cofilin 2 - CFL2 - - NEM7 - nemaline myopathy type 7 - - - gene with protein product - - - - Reactome - Q9Y281 - - - Ensembl - ENSG00000165410 - - - Genatlas - CFL2 - - - HGNC - 1875 - - - OMIM - 601443 - - - SwissProt - Q9Y281 - - - ClinVar - CFL2 - - - - - 14q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - tropomyosin 2 - TPM2 - - DA1 - NEM4 - nemaline myopathy type 4 - - - gene with protein product - - - - Ensembl - ENSG00000198467 - - - Genatlas - TPM2 - - - HGNC - 12011 - - - OMIM - 190990 - - - Reactome - P07951 - - - SwissProt - P07951 - - - ClinVar - TPM2 - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - nebulin - NEB - - NEB177D - nemaline myopathy type 2 - - - gene with protein product - - - - OMIM - 161650 - - - Reactome - P20929 - - - SwissProt - P20929 - - - Ensembl - ENSG00000183091 - - - Genatlas - NEB - - - HGNC - 7720 - - - ClinVar - NEB - - - - - 2q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24268659[PMID] - - kelch like family member 41 - KLHL41 - - Krp1 - SARCOSIN - sarcomeric muscle protein - - - gene with protein product - - - - ClinVar - KLHL41 - - - SwissProt - O60662 - - - Ensembl - ENSG00000239474 - - - Genatlas - KLHL41 - - - HGNC - 16905 - - - OMIM - 607701 - - - Reactome - O60662 - - - - - 2q31.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25250574[PMID] - - leiomodin 3 - LMOD3 - - - - gene with protein product - - - - Ensembl - ENSG00000163380 - - - Genatlas - LMOD3 - - - HGNC - 6649 - - - OMIM - 616112 - - - SwissProt - Q0VAK6 - - - ClinVar - LMOD3 - - - - - 3p14.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 171439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171439 - Childhood-onset nemaline myopathy - - Disease - - - Disorder - - - - 23378224[PMID]_23413262[PMID] - - tropomyosin 2 - TPM2 - - DA1 - NEM4 - nemaline myopathy type 4 - - - gene with protein product - - - - Ensembl - ENSG00000198467 - - - Genatlas - TPM2 - - - HGNC - 12011 - - - OMIM - 190990 - - - Reactome - P07951 - - - SwissProt - P07951 - - - ClinVar - TPM2 - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28017374[PMID] - - myopalladin - MYPN - - MYOP - Sarcomeric protein myopalladin, 145 kDa - sarcomeric protein myopalladin, 145 kDa - - - gene with protein product - - - - Ensembl - ENSG00000138347 - - - Genatlas - MYPN - - - HGNC - 23246 - - - OMIM - 608517 - - - SwissProt - Q86TC9 - - - ClinVar - MYPN - - - - - 10q21.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - actin alpha 1, skeletal muscle - ACTA1 - - NEM3 - nemaline myopathy type 3 - - - gene with protein product - - - - ClinVar - ACTA1 - - - OMIM - 102610 - - - Reactome - P68133 - - - SwissProt - P68133 - - - Ensembl - ENSG00000143632 - - - Genatlas - ACTA1 - - - HGNC - 129 - - - - - 1q42.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 7704029[PMID] - - tropomyosin 3 - TPM3 - - TRK - - - gene with protein product - - - - OMIM - 191030 - - - Reactome - P06753 - - - SwissProt - P06753 - - - Ensembl - ENSG00000143549 - - - Genatlas - TPM3 - - - HGNC - 12012 - - - ClinVar - TPM3 - - - - - 1q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - nebulin - NEB - - NEB177D - nemaline myopathy type 2 - - - gene with protein product - - - - OMIM - 161650 - - - Reactome - P20929 - - - SwissProt - P20929 - - - Ensembl - ENSG00000183091 - - - Genatlas - NEB - - - HGNC - 7720 - - - ClinVar - NEB - - - - - 2q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301465[PMID]_21104864[PMID] - - kelch repeat and BTB domain containing 13 - KBTBD13 - - NEM6 - hCG_1645727 - nemaline myopathy type 6 - - - gene with protein product - - - - Ensembl - ENSG00000234438 - - - Genatlas - KBTBD13 - - - HGNC - 37227 - - - OMIM - 613727 - - - SwissProt - C9JR72 - - - ClinVar - KBTBD13 - - - Reactome - C9JR72 - - - - - 15q22.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24268659[PMID] - - kelch like family member 41 - KLHL41 - - Krp1 - SARCOSIN - sarcomeric muscle protein - - - gene with protein product - - - - ClinVar - KLHL41 - - - SwissProt - O60662 - - - Ensembl - ENSG00000239474 - - - Genatlas - KLHL41 - - - HGNC - 16905 - - - OMIM - 607701 - - - Reactome - O60662 - - - - - 2q31.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 171445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171445 - Muscle filaminopathy - - Disease - - - Disorder - - - - 15929027[PMID] - - filamin C - FLNC - - ABP-280 - ABPL - actin binding protein 280 - gamma filamin - - - gene with protein product - - - - Ensembl - ENSG00000128591 - - - Genatlas - FLNC - - - HGNC - 3756 - - - OMIM - 102565 - - - Reactome - Q14315 - - - SwissProt - Q14315 - - - ClinVar - FLNC - - - - - 7q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 171607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171607 - X-linked spastic paraplegia type 34 - - Disease - - - Disorder - - - - - - spastic paraplegia 34 (autosomal dominant) - SPG34 - - - - Disorder-associated locus - - - - OMIM - - - - SwissProt - - - - HGNC - 32944 - - - Ensembl - - - - - - reserved - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2771 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2771 - Bruck syndrome - - Malformation syndrome - - - Disorder - - - - 15523624[PMID]_22689593[PMID] - - procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 - PLOD2 - - LH2 - lysyl hydroxlase 2 - TLH - procollagen-lysine 5-dioxygenase - telopeptidyl lysyl hydroxylase - procollagen lysyl hydroxylase 2 - - - gene with protein product - - - - ClinVar - PLOD2 - - - Ensembl - ENSG00000152952 - - - Genatlas - PLOD2 - - - HGNC - 9082 - - - OMIM - 601865 - - - Reactome - O00469 - - - SwissProt - O00469 - - - - - 3q24 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22085994[PMID]_22949511[PMID]_22689593[PMID] - - FKBP prolyl isomerase 10 - FKBP10 - - FKBP6 - FLJ20683 - FLJ22041 - FLJ23833 - hFKBP65 - FKBP65 - - - gene with protein product - - - - OMIM - 607063 - - - SwissProt - Q96AY3 - - - Ensembl - ENSG00000141756 - - - Genatlas - FKBP10 - - - HGNC - 18169 - - - ClinVar - FKBP10 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 171612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171612 - Autosomal dominant spastic paraplegia type 37 - - Disease - - - Disorder - - - - - - spastic paraplegia 37 (autosomal dominant) - SPG37 - - - - Disorder-associated locus - - - - Ensembl - - - - OMIM - - - - SwissProt - - - - HGNC - 33472 - - - - - 8p21.2-q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34564892[PMID] - - karyopherin subunit alpha 3 - KPNA3 - - SRP4 - hSRP1 - importin alpha 4 - SRP1gamma - IPOA4 - importin subunit alpha-4 - - - gene with protein product - - - - HGNC - 6396 - - - Ensembl - ENSG00000102753 - - - OMIM - 601892 - - - SwissProt - O00505 - - - - - 13q14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 171617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171617 - Autosomal dominant spastic paraplegia type 38 - - Disease - - - Disorder - - - - - - spastic paraplegia 38 (autosomal dominant, Silver syndrome) - SPG38 - - - - Disorder-associated locus - - - - Ensembl - - - - OMIM - - - - SwissProt - - - - HGNC - 33485 - - - - - 4p16-p15 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1349 - Mitochondrial DNA-related cardiomyopathy and hearing loss - - Malformation syndrome - - - Disorder - - - - 8651277[PMID] - - mitochondrially encoded tRNA-Lys (AAA/G) - MT-TK - - trnK - - - Non-coding RNA - - - - Ensembl - ENSG00000210156 - - - Genatlas - MT-TK - - - HGNC - 7489 - - - OMIM - 590060 - - - SwissProt - - - - ClinVar - MT-TK - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 171622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171622 - Autosomal recessive spastic paraplegia type 32 - - Disease - - - Disorder - - - - - - spastic paraplegia 32 (autosomal recessive) - SPG32 - - SPG29 - - - Disorder-associated locus - - - - SwissProt - - - - HGNC - 32314 - - - Ensembl - - - - OMIM - - - - - - 14q12-q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 171629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171629 - Autosomal recessive spastic paraplegia type 35 - - Disease - - - Disorder - - - - 20104589[PMID] - - fatty acid 2-hydroxylase - FA2H - - FAAH - FLJ25287 - fatty acid hydroxylase - Fatty acid alpha-hydroxylase - - - gene with protein product - - - - Ensembl - ENSG00000103089 - - - Genatlas - FA2H - - - HGNC - 21197 - - - OMIM - 611026 - - - Reactome - Q7L5A8 - - - SwissProt - Q7L5A8 - - - ClinVar - FA2H - - - - - 16q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861 - Treacher-Collins syndrome - - Malformation syndrome - - - Disorder - - - - 25790162[PMID] - - RNA polymerase I subunit B - POLR1B - - Rpo1-2 - FLJ21921 - FLJ10816 - RPA2 - RPA135 - - - gene with protein product - - - - HGNC - 20454 - - - OMIM - 602000 - - - SwissProt - Q9H9Y6 - - - Reactome - Q9H9Y6 - - - Ensembl - ENSG00000125630 - - - - - 2q14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301704[PMID] - - treacle ribosome biogenesis factor 1 - TCOF1 - - TCS - treacle - - - gene with protein product - - - - Ensembl - ENSG00000070814 - - - Genatlas - TCOF1 - - - HGNC - 11654 - - - OMIM - 606847 - - - SwissProt - Q13428 - - - Reactome - Q13428 - - - ClinVar - TCOF1 - - - - - 5q32-q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301704[PMID] - - RNA polymerase I and III subunit D - POLR1D - - MGC9850 - RPA16 - RPA9 - RPAC2 - RPO1-3 - AC19 - - - gene with protein product - - - - ClinVar - POLR1D - - - Ensembl - ENSG00000186184 - - - Genatlas - POLR1D - - - HGNC - 20422 - - - OMIM - 613715 - - - Reactome - Q9Y2S0 - - - SwissProt - P0DPB5 - - - SwissProt - P0DPB6 - - - - - 13q12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301704[PMID] - - RNA polymerase I and III subunit C - POLR1C - - RPA39 - RPA40 - RPA5 - RPAC1 - AC40 - RPC40 - - - gene with protein product - - - - ClinVar - POLR1C - - - Ensembl - ENSG00000171453 - - - Genatlas - POLR1C - - - HGNC - 20194 - - - OMIM - 610060 - - - Reactome - O15160 - - - SwissProt - O15160 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308 - Progressive myoclonic epilepsy type 1 - - Disease - - - Disorder - - - - 9012407[PMID]_20301321[PMID] - - cystatin B - CSTB - - CST6 - PME - stefin B - Epilepsy, progressive myoclonic 1 - - - gene with protein product - - - - ClinVar - CSTB - - - Reactome - P04080 - - - Ensembl - ENSG00000160213 - - - Genatlas - CSTB - - - HGNC - 2482 - - - OMIM - 601145 - - - SwissProt - P04080 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19847901[PMID] - - scavenger receptor class B member 2 - SCARB2 - - lysosome membrane protein 2 - lysosomal integral membrane protein II - HLGP85 - LIMP-2 - LIMPII - SR-BII - - - gene with protein product - - - - ClinVar - SCARB2 - - - Reactome - Q14108 - - - Ensembl - ENSG00000138760 - - - Genatlas - SCARB2 - - - HGNC - 1665 - - - OMIM - 602257 - - - SwissProt - Q14108 - - - - - 4q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18976727[PMID] - - prickle planar cell polarity protein 1 - PRICKLE1 - - EPM1B - FLJ31937 - REST/NRSF interacting LIM domain protein - RILP - - - gene with protein product - - - - Ensembl - ENSG00000139174 - - - Genatlas - PRICKLE1 - - - HGNC - 17019 - - - OMIM - 608500 - - - Reactome - Q96MT3 - - - SwissProt - Q96MT3 - - - ClinVar - PRICKLE1 - - - - - 12q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199 - Cornelia de Lange syndrome - - Malformation syndrome - - - Disorder - - - - 20301283[PMID] - - structural maintenance of chromosomes 1A - SMC1A - - DXS423E - KIAA0178 - SB1.8 - Smcb - - - gene with protein product - - - - ClinVar - SMC1A - - - Ensembl - ENSG00000072501 - - - Genatlas - SMC1A - - - HGNC - 11111 - - - OMIM - 300040 - - - Reactome - Q14683 - - - SwissProt - Q14683 - - - - - Xp11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301283[PMID] - - NIPBL cohesin loading factor - NIPBL - - DKFZp434L1319 - FLJ11203 - FLJ12597 - FLJ13354 - FLJ13648 - IDN3 - Scc2 - sister chromatid cohesion 2 homolog (yeast) - - - gene with protein product - - - - Ensembl - ENSG00000164190 - - - Genatlas - NIPBL - - - HGNC - 28862 - - - OMIM - 608667 - - - Reactome - Q6KC79 - - - SwissProt - Q6KC79 - - - ClinVar - NIPBL - - - - - 5p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301283[PMID] - - structural maintenance of chromosomes 3 - SMC3 - - BAM - Bamacan - HCAP - SMC3L1 - bamacan proteoglycan - bamacan - - - gene with protein product - - - - OMIM - 606062 - - - Reactome - Q9UQE7 - - - SwissProt - Q9UQE7 - - - Ensembl - ENSG00000108055 - - - Genatlas - SMC3 - - - HGNC - 2468 - - - ClinVar - SMC3 - - - - - 10q25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22885700[PMID] - - histone deacetylase 8 - HDAC8 - - RPD3 - KDAC8 - - - gene with protein product - - - - Ensembl - ENSG00000147099 - - - Genatlas - HDAC8 - - - HGNC - 13315 - - - IUPHAR - 2619 - - - OMIM - 300269 - - - Reactome - Q9BY41 - - - SwissProt - Q9BY41 - - - ClinVar - HDAC8 - - - - - Xq13.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22633399[PMID] - - RAD21 cohesin complex component - RAD21 - - KIAA0078 - SCC1 - hHR21 - kleisin - sister chromatid cohesion 1 - - - gene with protein product - - - - Ensembl - ENSG00000164754 - - - Genatlas - RAD21 - - - HGNC - 9811 - - - OMIM - 606462 - - - Reactome - O60216 - - - SwissProt - O60216 - - - ClinVar - RAD21 - - - - - 8q24.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29379197[PMID] - - bromodomain containing 4 - BRD4 - - CAP - HUNK1 - HUNKI - MCAP - chromosome-associated protein - mitotic chromosome-associated protein - FSHRG4 - female sterile homeotic related gene 4 - - - gene with protein product - - - - Ensembl - ENSG00000141867 - - - Genatlas - BRD4 - - - HGNC - 13575 - - - IUPHAR - 1945 - - - OMIM - 608749 - - - SwissProt - O60885 - - - Reactome - O60885 - - - ClinVar - BRD4 - - - - - 19p13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=930 - Idiopathic achalasia - - Disease - - - Disorder - - - - 27976805[PMID] - - cytokine receptor like factor 1 - CRLF1 - - CISS - CISS1 - CLF - CLF-1 - cold-induced sweating syndrome - - - gene with protein product - - - - ClinVar - CRLF1 - - - Ensembl - ENSG00000006016 - - - Genatlas - CRLF1 - - - HGNC - 2364 - - - OMIM - 604237 - - - Reactome - O75462 - - - SwissProt - O75462 - - - - - 19p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24997987[PMID] - - major histocompatibility complex, class II, DQ alpha 1 - HLA-DQA1 - - CELIAC1 - - - gene with protein product - - - - OMIM - 146880 - - - Reactome - P01909 - - - SwissProt - P01909 - - - Ensembl - ENSG00000196735 - - - Genatlas - HLA-DQA1 - - - HGNC - 4942 - - - ClinVar - HLA-DQA1 - - - - - 6p21.32 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 24997987[PMID] - - major histocompatibility complex, class II, DQ beta 1 - HLA-DQB1 - - CELIAC1 - IDDM1 - - - gene with protein product - - - - ClinVar - HLA-DQB1 - - - Ensembl - ENSG00000179344 - - - Genatlas - HLA-DQB1 - - - HGNC - 4944 - - - OMIM - 604305 - - - Reactome - P01920 - - - SwissProt - P01920 - - - - - 6p21.32 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 25479138[PMID] - - nitric oxide synthase 1 - NOS1 - - nNOS - - - gene with protein product - - - - ClinVar - NOS1 - - - Ensembl - ENSG00000089250 - - - Genatlas - NOS1 - - - HGNC - 7872 - - - IUPHAR - 1251 - - - OMIM - 163731 - - - Reactome - P29475 - - - SwissProt - P29475 - - - - - 12q24.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1727 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1727 - 22q11.2 duplication syndrome - - Malformation syndrome - - - Disorder - - - - 19254783[PMID] - - T-box transcription factor 1 - TBX1 - - CATCH22 - - - gene with protein product - - - - Ensembl - ENSG00000184058 - - - Genatlas - TBX1 - - - HGNC - 11592 - - - OMIM - 602054 - - - SwissProt - O43435 - - - ClinVar - TBX1 - - - - - 22q11.21 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 169079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169079 - Cernunnos-XLF deficiency - - Disease - - - Disorder - - - - - - non-homologous end joining factor 1 - NHEJ1 - - Cernunnos - FLJ12610 - XLF - XRCC4-like factor - - - gene with protein product - - - - ClinVar - NHEJ1 - - - Ensembl - ENSG00000187736 - - - Genatlas - NHEJ1 - - - HGNC - 25737 - - - OMIM - 611290 - - - Reactome - Q9H9Q4 - - - SwissProt - Q9H9Q4 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 168984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168984 - CLAPO syndrome - - Malformation syndrome - - - Disorder - - - - 29446767[PMID]_29766551[PMID] - - phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha - PIK3CA - - PI3K - - - gene with protein product - - - - Reactome - P42336 - - - SwissProt - P42336 - - - Ensembl - ENSG00000121879 - - - Genatlas - PIK3CA - - - HGNC - 8975 - - - IUPHAR - 2153 - - - OMIM - 171834 - - - ClinVar - PIK3CA - - - - - 3q26.32 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Not yet assessed - - - - - - 169100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169100 - Immunodeficiency due to CD25 deficiency - - Disease - - - Disorder - - - - 9096364[PMID] - - interleukin 2 receptor subunit alpha - IL2RA - - CD25 - - - gene with protein product - - - - Ensembl - ENSG00000134460 - - - Genatlas - IL2RA - - - HGNC - 6008 - - - OMIM - 147730 - - - Reactome - P01589 - - - SwissProt - P01589 - - - IUPHAR - 1695 - - - ClinVar - IL2RA - - - - - 10p15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 169095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169095 - Severe combined immunodeficiency due to FOXN1 deficiency - - Disease - - - Disorder - - - - 10206641[PMID] - - forkhead box N1 - FOXN1 - - FKHL20 - - - gene with protein product - - - - Reactome - O15353 - - - Ensembl - ENSG00000109101 - - - IUPHAR - 2958 - - - ClinVar - FOXN1 - - - Genatlas - FOXN1 - - - HGNC - 12765 - - - OMIM - 600838 - - - SwissProt - O15353 - - - - - 17q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 169082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169082 - Combined immunodeficiency due to CD3gamma deficiency - - Disease - - - Disorder - - - - - - CD3 gamma subunit of T-cell receptor complex - CD3G - - CD3GAMMA - T-cell surface glycoprotein CD3 gamma chain - CD3-GAMMA - - - gene with protein product - - - - Ensembl - ENSG00000160654 - - - Genatlas - CD3G - - - HGNC - 1675 - - - OMIM - 186740 - - - Reactome - P09693 - - - SwissProt - P09693 - - - ClinVar - CD3G - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 169085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169085 - Susceptibility to respiratory infections associated with CD8alpha chain mutation - - Disease - - - Disorder - - - - 11435463[PMID] - - CD8 subunit alpha - CD8A - - p32 - CD8alpha - - - gene with protein product - - - - ClinVar - CD8A - - - Ensembl - ENSG00000153563 - - - Genatlas - CD8A - - - HGNC - 1706 - - - OMIM - 186910 - - - Reactome - P01732 - - - SwissProt - P01732 - - - - - 2p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 168829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168829 - Primary peritoneal carcinoma - - Disease - - - Disorder - - - - 22006311[PMID] - - BRCA1 DNA repair associated - BRCA1 - - BRCA1/BRCA2-containing complex, subunit 1 - BRCC1 - FANCS - Fanconi anemia, complementation group S - PPP1R53 - RNF53 - protein phosphatase 1, regulatory subunit 53 - - - gene with protein product - - - - Ensembl - ENSG00000012048 - - - Genatlas - BRCA1 - - - HGNC - 1100 - - - OMIM - 113705 - - - Reactome - P38398 - - - SwissProt - P38398 - - - ClinVar - BRCA1 - - - - - 17q21.31 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=753 - 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency - - Disease - - - Disorder - - - - 8723114[PMID]_9497950[PMID] - - steroid 5 alpha-reductase 2 - SRD5A2 - - 3-oxo-5-alpha-steroid 4-dehydrogenase 2 - - - gene with protein product - - - - Ensembl - ENSG00000277893 - - - Genatlas - SRD5A2 - - - HGNC - 11285 - - - IUPHAR - 2633 - - - OMIM - 607306 - - - Reactome - P31213 - - - SwissProt - P31213 - - - ClinVar - SRD5A2 - - - - - 2p23.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 868 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=868 - Triose phosphate-isomerase deficiency - - Disease - - - Disorder - - - - - - triosephosphate isomerase 1 - TPI1 - - - - gene with protein product - - - - Ensembl - ENSG00000111669 - - - Genatlas - TPI1 - - - HGNC - 12009 - - - OMIM - 190450 - - - Reactome - P60174 - - - SwissProt - P60174 - - - ClinVar - TPI1 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 218 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=218 - Darier disease - - Disease - - - Disorder - - - - 22909361[PMID]_23356892[PMID]_23621824[PMID] - - ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 - ATP2A2 - - SERCA2 - calcium pump 2 - sarcoplasmic/endoplasmic reticulum calcium ATPase 2 - - - gene with protein product - - - - Ensembl - ENSG00000174437 - - - Genatlas - ATP2A2 - - - HGNC - 812 - - - OMIM - 108740 - - - Reactome - P16615 - - - SwissProt - P16615 - - - IUPHAR - 841 - - - ClinVar - ATP2A2 - - - - - 12q24.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 168796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168796 - Heart-hand syndrome, Slovenian type - - Malformation syndrome - - - Disorder - - - - 18611980[PMID] - - lamin A/C - LMNA - - HGPS - MADA - mandibuloacral dysplasia type A - progerin - - - gene with protein product - - - - ClinVar - LMNA - - - Ensembl - ENSG00000160789 - - - Genatlas - LMNA - - - HGNC - 6636 - - - OMIM - 150330 - - - Reactome - P02545 - - - SwissProt - P02545 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465 - Coffin-Siris syndrome - - Malformation syndrome - - - Disorder - - - - 28124119[PMID] - - AT-rich interaction domain 2 - ARID2 - - BAF200 - DKFZp686G052 - SMARCF3 - KIAA1557 - FLJ30619 - ZIPZAP - p200 - - - gene with protein product - - - - ClinVar - ARID2 - - - Ensembl - ENSG00000189079 - - - OMIM - 609539 - - - Genatlas - ARID2 - - - HGNC - 18037 - - - SwissProt - Q68CP9 - - - Reactome - Q68CP9 - - - - - 12q12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23556151[PMID] - - SWI/SNF related BAF chromatin remodeling complex subunit B1 - SMARCB1 - - BAF47 - Ini1 - PPP1R144 - RDT - Sfh1p - Snr1 - hSNFS - integrase interactor 1 - malignant rhabdoid tumor suppressor - protein phosphatase 1, regulatory subunit 144 - sucrose nonfermenting, yeast, homolog-like 1 - INI-1 - SNF5 - - - gene with protein product - - - - ClinVar - SMARCB1 - - - Reactome - Q12824 - - - SwissProt - Q12824 - - - Ensembl - ENSG00000099956 - - - Genatlas - SMARCB1 - - - HGNC - 11103 - - - OMIM - 601607 - - - - - 22q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23556151[PMID] - - SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 - SMARCA4 - - ATP-dependent helicase SMARCA4 - BAF190 - BRG1 - BRM/SWI2-related gene 1 - FLJ39786 - SNF2 - SNF2-BETA - SNF2-like 4 - SNF2LB - SWI2 - brahma protein-like 1 - global transcription activator homologous sequence - hSNF2b - homeotic gene regulator - mitotic growth and transcription activator - nuclear protein GRB1 - sucrose nonfermenting-like 4 - - - gene with protein product - - - - Ensembl - ENSG00000127616 - - - Genatlas - SMARCA4 - - - HGNC - 11100 - - - IUPHAR - 2740 - - - OMIM - 603254 - - - Reactome - P51532 - - - SwissProt - P51532 - - - ClinVar - SMARCA4 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23556151[PMID] - - AT-rich interaction domain 1B - ARID1B - - 6A3-5 - BAF250b - DAN15 - ELD/OSA1 - KIAA1235 - p250R - SMARCF2 - - - gene with protein product - - - - Ensembl - ENSG00000049618 - - - Genatlas - ARID1B - - - HGNC - 18040 - - - OMIM - 614556 - - - Reactome - Q8NFD5 - - - SwissProt - Q8NFD5 - - - ClinVar - ARID1B - - - - - 6q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23556151[PMID] - - AT-rich interaction domain 1A - ARID1A - - C10rf4 - P270 - B120 - BAF250 - BAF250a - - - gene with protein product - - - - Ensembl - ENSG00000117713 - - - Genatlas - ARID1A - - - HGNC - 11110 - - - OMIM - 603024 - - - Reactome - O14497 - - - SwissProt - O14497 - - - ClinVar - ARID1A - - - - - 1p36.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23556151[PMID]_23906836[PMID]_23929686[PMID] - - SWI/SNF related BAF chromatin remodeling complex subunit E1 - SMARCE1 - - BAF57 - - - gene with protein product - - - - ClinVar - SMARCE1 - - - Ensembl - ENSG00000073584 - - - Genatlas - SMARCE1 - - - HGNC - 11109 - - - OMIM - 603111 - - - Reactome - Q969G3 - - - SwissProt - Q969G3 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24886874[PMID] - - SRY-box transcription factor 11 - SOX11 - - SRY-related HMG-box gene 11 - - - gene with protein product - - - - ClinVar - SOX11 - - - HGNC - 11191 - - - OMIM - 600898 - - - SwissProt - P35716 - - - Ensembl - ENSG00000176887 - - - Genatlas - SOX11 - - - - - 2p25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30661722[PMID] - - SRY-box transcription factor 4 - SOX4 - - - - gene with protein product - - - - HGNC - 11200 - - - Ensembl - ENSG00000124766 - - - SwissProt - Q06945 - - - Reactome - Q06945 - - - OMIM - 184430 - - - - - 6p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29429572[PMID] - - double PHD fingers 2 - DPF2 - - SMARCG2 - BAF45d - ubi-d4 - - - gene with protein product - - - - ClinVar - DPF2 - - - HGNC - 9964 - - - Ensembl - ENSG00000133884 - - - SwissProt - Q92785 - - - OMIM - 601671 - - - Genatlas - DPF2 - - - Reactome - Q92785 - - - - - 11q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30879640[PMID] - - SWI/SNF related BAF chromatin remodeling complex subunit D1 - SMARCD1 - - BAF60A - CRACD1 - Rsc6p - - - gene with protein product - - - - ClinVar - SMARCD1 - - - HGNC - 11106 - - - Ensembl - ENSG00000066117 - - - SwissProt - Q96GM5 - - - Genatlas - SMARCD1 - - - Reactome - Q96GM5 - - - OMIM - 601735 - - - - - 12q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30580808[PMID] - - SWI/SNF related BAF chromatin remodeling complex subunit C2 - SMARCC2 - - BAF170 - CRACC2 - Rsc8 - - - gene with protein product - - - - OMIM - 601734 - - - SwissProt - Q8TAQ2 - - - HGNC - 11105 - - - Ensembl - ENSG00000139613 - - - Reactome - Q8TAQ2 - - - Genatlas - SMARCC2 - - - ClinVar - SMARCC2 - - - - - 12q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 168953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168953 - Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement - - Disease - - - Disorder - - - - 23489324[PMID] - - fibroblast growth factor receptor 1 - FGFR1 - - BFGFR - CD331 - CEK - FLG - H2 - H3 - H4 - H5 - N-SAM - Pfeiffer syndrome - - - gene with protein product - - - - Ensembl - ENSG00000077782 - - - Genatlas - FGFR1 - - - HGNC - 3688 - - - IUPHAR - 1808 - - - OMIM - 136350 - - - Reactome - P11362 - - - SwissProt - P11362 - - - ClinVar - FGFR1 - - - - - 8p11.23 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 168950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168950 - Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement - - Disease - - - Disorder - - - - 23489324[PMID] - - platelet derived growth factor receptor beta - PDGFRB - - CD140b - JTK12 - PDGFR1 - - - gene with protein product - - - - ClinVar - PDGFRB - - - Ensembl - ENSG00000113721 - - - Genatlas - PDGFRB - - - HGNC - 8804 - - - IUPHAR - 1804 - - - OMIM - 173410 - - - Reactome - P09619 - - - SwissProt - P09619 - - - - - 5q32 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 168947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168947 - Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement - - Disease - - - Disorder - - - - 23489324[PMID] - - platelet derived growth factor receptor alpha - PDGFRA - - CD140a - GAS9 - PDGFR2 - - - gene with protein product - - - - Ensembl - ENSG00000134853 - - - Genatlas - PDGFRA - - - HGNC - 8803 - - - IUPHAR - 1803 - - - OMIM - 173490 - - - Reactome - P16234 - - - SwissProt - P16234 - - - ClinVar - PDGFRA - - - - - 4q12 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 168940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168940 - Chronic eosinophilic leukemia - - Disease - - - Disorder - - - - 24764730[PMID]_22523564[PMID]_17988989[PMID]_16502585[PMID] - - factor interacting with PAPOLA and CPSF1 - FIP1L1 - - DKFZp586K0717 - FIP1 - hFip1 - - - gene with protein product - - - - ClinVar - FIP1L1 - - - Ensembl - ENSG00000145216 - - - Genatlas - FIP1L1 - - - HGNC - 19124 - - - OMIM - 607686 - - - Reactome - Q6UN15 - - - SwissProt - Q6UN15 - - - - - 4q12 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 24764730[PMID]_22523564[PMID]_17988989[PMID]_16502585[PMID] - - platelet derived growth factor receptor alpha - PDGFRA - - CD140a - GAS9 - PDGFR2 - - - gene with protein product - - - - Ensembl - ENSG00000134853 - - - Genatlas - PDGFRA - - - HGNC - 8803 - - - IUPHAR - 1803 - - - OMIM - 173490 - - - Reactome - P16234 - - - SwissProt - P16234 - - - ClinVar - PDGFRA - - - - - 4q12 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 2609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2609 - Isolated complex I deficiency - - Disease - - - Disorder - - - - 27374773[PMID]_27374774[PMID] - - transmembrane protein 126B - TMEM126B - - HT007 - - - gene with protein product - - - - ClinVar - TMEM126B - - - OMIM - 615533 - - - Genatlas - TMEM126B - - - SwissProt - Q8IUX1 - - - HGNC - 30883 - - - Reactome - Q8IUX1 - - - Ensembl - ENSG00000171204 - - - - - 11q14.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 31866046[PMID] - - NADH:ubiquinone oxidoreductase complex assembly factor 8 - NDUFAF8 - - - - gene with protein product - - - - HGNC - 33551 - - - Ensembl - ENSG00000224877 - - - SwissProt - A1L188 - - - OMIM - 618461 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28604674[PMID] - - translocase of inner mitochondrial membrane domain containing 1 - TIMMDC1 - - FLJ22597 - - - gene with protein product - - - - ClinVar - TIMMDC1 - - - OMIM - 615534 - - - SwissProt - Q9NPL8 - - - Genatlas - TIMMDC1 - - - Reactome - Q9NPL8 - - - Ensembl - ENSG00000113845 - - - HGNC - 1321 - - - - - 3q13.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 26741492[PMID] - - NADH:ubiquinone oxidoreductase subunit B11 - NDUFB11 - - ESSS - NP17.3 - Np15 - complex I NP17.3 subunit - - - gene with protein product - - - - Ensembl - ENSG00000147123 - - - Genatlas - NDUFB11 - - - HGNC - 20372 - - - OMIM - 300403 - - - Reactome - Q9NX14 - - - SwissProt - Q9NX14 - - - ClinVar - NDUFB11 - - - - - Xp11.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 30245030[PMID] - - NADH:ubiquinone oxidoreductase subunit A6 - NDUFA6 - - CI-B14 - B14 - LYRM6 - NADHB14 - complex I B14 subunit - - - gene with protein product - - - - Genatlas - NDUFA6 - - - Reactome - P56556 - - - OMIM - 602138 - - - HGNC - 7690 - - - ClinVar - NDUFA6 - - - Ensembl - ENSG00000184983 - - - SwissProt - P56556 - - - - - 22q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 10775530[PMID]_16492986[PMID] - - mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 - MT-ND1 - - NAD1 - NADH-ubiquinone oxidoreductase chain 1 - ND1 - complex I ND1 subunit - - - gene with protein product - - - - ClinVar - MT-ND1 - - - Ensembl - ENSG00000198888 - - - Genatlas - MT-ND1 - - - HGNC - 7455 - - - OMIM - 516000 - - - Reactome - P03886 - - - SwissProt - P03886 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12192017[PMID]_15781840[PMID] - - mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 - MT-ND2 - - NAD2 - NADH-ubiquinone oxidoreductase chain 2 - ND2 - complex I ND2 subunit - - - gene with protein product - - - - ClinVar - MT-ND2 - - - Ensembl - ENSG00000198763 - - - Genatlas - MT-ND2 - - - HGNC - 7456 - - - OMIM - 516001 - - - Reactome - P03891 - - - SwissProt - P03891 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 14705112[PMID] - - mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 - MT-ND3 - - NAD3 - NADH-ubiquinone oxidoreductase chain 3 - ND3 - complex I ND3 subunit - - - gene with protein product - - - - Ensembl - ENSG00000198840 - - - Genatlas - MT-ND3 - - - HGNC - 7458 - - - OMIM - 516002 - - - Reactome - P03897 - - - SwissProt - P03897 - - - ClinVar - MT-ND3 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16200211[PMID] - - NADH:ubiquinone oxidoreductase complex assembly factor 2 - NDUFAF2 - - B17.2L - MMTN - Myc-induced mitochondrial protein - mimitin - - - gene with protein product - - - - ClinVar - NDUFAF2 - - - Genatlas - NDUFAF2 - - - HGNC - 28086 - - - OMIM - 609653 - - - Reactome - Q8N183 - - - SwissProt - Q8N183 - - - Ensembl - ENSG00000164182 - - - - - 5q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20382551[PMID]_22644603[PMID] - - NADH:ubiquinone oxidoreductase core subunit S1 - NDUFS1 - - CI-75k - NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial - complex I 75kDa subunit - - - gene with protein product - - - - ClinVar - NDUFS1 - - - Ensembl - ENSG00000023228 - - - Genatlas - NDUFS1 - - - HGNC - 7707 - - - OMIM - 157655 - - - Reactome - P28331 - - - SwissProt - P28331 - - - - - 2q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15576045[PMID]_22644603[PMID] - - NADH:ubiquinone oxidoreductase core subunit S2 - NDUFS2 - - CI-49 - NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial - complex I 49kDa subunit - - - gene with protein product - - - - ClinVar - NDUFS2 - - - Ensembl - ENSG00000158864 - - - Genatlas - NDUFS2 - - - HGNC - 7708 - - - OMIM - 602985 - - - Reactome - O75306 - - - SwissProt - O75306 - - - - - 1q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22499348[PMID] - - NADH:ubiquinone oxidoreductase core subunit S3 - NDUFS3 - - CI-30 - NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial - complex I 30kDa subunit - - - gene with protein product - - - - ClinVar - NDUFS3 - - - Reactome - O75489 - - - SwissProt - O75489 - - - Ensembl - ENSG00000213619 - - - Genatlas - NDUFS3 - - - HGNC - 7710 - - - OMIM - 603846 - - - - - 11p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 9463323[PMID]_22644603[PMID] - - NADH:ubiquinone oxidoreductase subunit S4 - NDUFS4 - - AQDQ - CI-18 - complex I 18kDa subunit - - - gene with protein product - - - - ClinVar - NDUFS4 - - - Ensembl - ENSG00000164258 - - - Genatlas - NDUFS4 - - - HGNC - 7711 - - - OMIM - 602694 - - - Reactome - O43181 - - - SwissProt - O43181 - - - - - 5q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15372108[PMID]_19259137[PMID]_22644603[PMID] - - NADH:ubiquinone oxidoreductase subunit S6 - NDUFS6 - - CI-13kA - NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial - complex I 13kDa subunit A - - - gene with protein product - - - - ClinVar - NDUFS6 - - - Ensembl - ENSG00000145494 - - - Genatlas - NDUFS6 - - - HGNC - 7713 - - - OMIM - 603848 - - - Reactome - O75380 - - - SwissProt - O75380 - - - - - 5p15.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22644603[PMID] - - NADH:ubiquinone oxidoreductase core subunit S7 - NDUFS7 - - CI-20 - FLJ45860 - FLJ46880 - NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial - PSST - complex I 20kDa subunit - - - gene with protein product - - - - ClinVar - NDUFS7 - - - Ensembl - ENSG00000115286 - - - Genatlas - NDUFS7 - - - HGNC - 7714 - - - OMIM - 601825 - - - Reactome - O75251 - - - SwissProt - O75251 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22499348[PMID]_22644603[PMID] - - NADH:ubiquinone oxidoreductase core subunit S8 - NDUFS8 - - CI-23k - NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial - TYKY - complex I 23kDa subunit - - - gene with protein product - - - - Ensembl - ENSG00000110717 - - - Genatlas - NDUFS8 - - - HGNC - 7715 - - - OMIM - 602141 - - - Reactome - O00217 - - - SwissProt - O00217 - - - ClinVar - NDUFS8 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22644603[PMID] - - NADH:ubiquinone oxidoreductase core subunit V1 - NDUFV1 - - CI-51K - NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial - complex I 51kDa subunit - - - gene with protein product - - - - Ensembl - ENSG00000167792 - - - Genatlas - NDUFV1 - - - HGNC - 7716 - - - OMIM - 161015 - - - Reactome - P49821 - - - SwissProt - P49821 - - - ClinVar - NDUFV1 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12754703[PMID]_22644603[PMID]_26008862[PMID] - - NADH:ubiquinone oxidoreductase core subunit V2 - NDUFV2 - - CI-24k - NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial - complex I 24kDa subunit - - - gene with protein product - - - - Ensembl - ENSG00000178127 - - - Genatlas - NDUFV2 - - - HGNC - 7717 - - - OMIM - 600532 - - - Reactome - P19404 - - - SwissProt - P19404 - - - ClinVar - NDUFV2 - - - - - 18p11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17262856[PMID]_19185523[PMID]_21596602[PMID]_22644603[PMID] - - NADH:ubiquinone oxidoreductase subunit A1 - NDUFA1 - - CI-MWFE - MWFE - complex I MWFE subunit - type I dehydrogenase - - - gene with protein product - - - - ClinVar - NDUFA1 - - - SwissProt - O15239 - - - Ensembl - ENSG00000125356 - - - Genatlas - NDUFA1 - - - HGNC - 7683 - - - OMIM - 300078 - - - Reactome - O15239 - - - - - Xq24 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18179882[PMID]_22644603[PMID] - - NADH:ubiquinone oxidoreductase complex assembly factor 4 - NDUFAF4 - - HRPAP20 - HSPC125 - My013 - bA22L21.1 - - - gene with protein product - - - - ClinVar - NDUFAF4 - - - OMIM - 611776 - - - Reactome - Q9P032 - - - SwissProt - Q9P032 - - - Ensembl - ENSG00000123545 - - - Genatlas - NDUFAF4 - - - HGNC - 21034 - - - - - 6q16.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18940309[PMID]_22644603[PMID] - - NADH:ubiquinone oxidoreductase complex assembly factor 5 - NDUFAF5 - - dJ842G6.1 - - - gene with protein product - - - - Reactome - Q5TEU4 - - - SwissProt - Q5TEU4 - - - Ensembl - ENSG00000101247 - - - Genatlas - C20ORF7 - - - HGNC - 15899 - - - OMIM - 612360 - - - ClinVar - C20ORF7 - - - - - 20p12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18306244[PMID]_22644603[PMID] - - NADH:ubiquinone oxidoreductase subunit A11 - NDUFA11 - - B14.7 - complex I B14.7 subunit - - - gene with protein product - - - - ClinVar - NDUFA11 - - - Ensembl - ENSG00000174886 - - - Genatlas - NDUFA11 - - - HGNC - 20371 - - - OMIM - 612638 - - - Reactome - Q86Y39 - - - SwissProt - Q86Y39 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19463981[PMID]_22644603[PMID] - - NADH:ubiquinone oxidoreductase complex assembly factor 3 - NDUFAF3 - - 2P1 - DKFZP564J0123 - E3-3 - MGC10527 - - - gene with protein product - - - - ClinVar - NDUFAF3 - - - Ensembl - ENSG00000178057 - - - Genatlas - NDUFAF3 - - - HGNC - 29918 - - - OMIM - 612911 - - - Reactome - Q9BU61 - - - SwissProt - Q9BU61 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20818383[PMID]_22644603[PMID]_23553477[PMID] - - NUBP iron-sulfur cluster assembly factor, mitochondrial - NUBPL - - FLJ12660 - IND1 - huInd1 - iron-sulfur protein required for NADH dehydrogenase - - - gene with protein product - - - - Ensembl - ENSG00000151413 - - - Genatlas - NUBPL - - - HGNC - 20278 - - - OMIM - 613621 - - - Reactome - Q8TB37 - - - SwissProt - Q8TB37 - - - ClinVar - NUBPL - - - - - 14q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20858599[PMID] - - FAD dependent oxidoreductase domain containing 1 - FOXRED1 - - H17 - - - gene with protein product - - - - Ensembl - ENSG00000110074 - - - Genatlas - FOXRED1 - - - HGNC - 26927 - - - OMIM - 613622 - - - SwissProt - Q96CU9 - - - ClinVar - FOXRED1 - - - - - 11q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17557076[PMID] - - NADH:ubiquinone oxidoreductase complex assembly factor 1 - NDUFAF1 - - CGI-65 - CIA30 - - - gene with protein product - - - - Ensembl - ENSG00000137806 - - - Genatlas - NDUFAF1 - - - HGNC - 18828 - - - OMIM - 606934 - - - Reactome - Q9Y375 - - - SwissProt - Q9Y375 - - - ClinVar - NDUFAF1 - - - - - 15q15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22200994[PMID] - - NADH:ubiquinone oxidoreductase subunit B9 - NDUFB9 - - B22 - Complex I B22 subunit - LYRM3 - UQOR22 - complex I B22 subunit - - - gene with protein product - - - - ClinVar - NDUFB9 - - - Ensembl - ENSG00000147684 - - - Genatlas - NDUFB9 - - - HGNC - 7704 - - - OMIM - 601445 - - - Reactome - Q9Y6M9 - - - SwissProt - Q9Y6M9 - - - - - 8q24.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22277967[PMID]_22499348[PMID] - - NADH:ubiquinone oxidoreductase subunit B3 - NDUFB3 - - B12 - Complex I B12 subunit - complex I B12 subunit - - - gene with protein product - - - - Ensembl - ENSG00000119013 - - - Genatlas - NDUFB3 - - - HGNC - 7698 - - - OMIM - 603839 - - - Reactome - O43676 - - - SwissProt - O43676 - - - ClinVar - NDUFB3 - - - - - 2q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28040730[PMID] - - NADH:ubiquinone oxidoreductase subunit B10 - NDUFB10 - - complex I PDSW subunit - PDSW - - - gene with protein product - - - - Reactome - O96000 - - - OMIM - 603843 - - - HGNC - 7696 - - - ClinVar - NDUFB10 - - - Ensembl - ENSG00000140990 - - - SwissProt - O96000 - - - Genatlas - NDUFB10 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 626 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=626 - Large/giant congenital melanocytic nevus - - Disease - - - Disorder - - - - 30359577[PMID] - - zinc finger E-box binding homeobox 2 - ZEB2 - - KIAA0569 - SIP-1 - SIP1 - SMAD interacting protein 1 - - - gene with protein product - - - - Reactome - O60315 - - - ClinVar - ZEB2 - - - Ensembl - ENSG00000169554 - - - Genatlas - ZEB2 - - - HGNC - 14881 - - - OMIM - 605802 - - - SwissProt - O60315 - - - - - 2q22.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 30792255[PMID] - - B-Raf proto-oncogene, serine/threonine kinase - BRAF - - BRAF1 - BRAF-1 - - - gene with protein product - - - - Ensembl - ENSG00000157764 - - - Genatlas - BRAF - - - HGNC - 1097 - - - IUPHAR - 1943 - - - OMIM - 164757 - - - Reactome - P15056 - - - SwissProt - P15056 - - - ClinVar - BRAF - - - - - 7q34 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 30359577[PMID] - - Raf-1 proto-oncogene, serine/threonine kinase - RAF1 - - C-Raf proto-oncogene, serine/threonine kinase - CRAF - Raf-1 - c-Raf - - - gene with protein product - - - - ClinVar - RAF1 - - - Ensembl - ENSG00000132155 - - - Genatlas - RAF1 - - - HGNC - 9829 - - - IUPHAR - 2184 - - - OMIM - 164760 - - - Reactome - P04049 - - - SwissProt - P04049 - - - - - 3p25.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 30359577[PMID] - - ALK receptor tyrosine kinase - ALK - - ALK1 - CD246 - - - gene with protein product - - - - Reactome - Q9UM73 - - - ClinVar - ALK - - - Ensembl - ENSG00000171094 - - - Genatlas - ALK - - - HGNC - 427 - - - IUPHAR - 1839 - - - OMIM - 105590 - - - SwissProt - Q9UM73 - - - - - 2p23.2-p23.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 23392294[PMID]_24129063[PMID] - - NRAS proto-oncogene, GTPase - NRAS - - N-ras - - - gene with protein product - - - - HGNC - 7989 - - - OMIM - 164790 - - - Reactome - P01111 - - - SwissProt - P01111 - - - Ensembl - ENSG00000213281 - - - Genatlas - NRAS - - - ClinVar - NRAS - - - IUPHAR - 2823 - - - - - 1p13.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 30359577[PMID] - - SRY-box transcription factor 5 - SOX5 - - L-SOX5 - MGC35153 - - - gene with protein product - - - - Reactome - P35711 - - - Ensembl - ENSG00000134532 - - - Genatlas - SOX5 - - - HGNC - 11201 - - - OMIM - 604975 - - - SwissProt - P35711 - - - ClinVar - SOX5 - - - - - 12p12.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 17301836[PMID]_18633438[PMID]_25490715[PMID] - - B-Raf proto-oncogene, serine/threonine kinase - BRAF - - BRAF1 - BRAF-1 - - - gene with protein product - - - - Ensembl - ENSG00000157764 - - - Genatlas - BRAF - - - HGNC - 1097 - - - IUPHAR - 1943 - - - OMIM - 164757 - - - Reactome - P15056 - - - SwissProt - P15056 - - - ClinVar - BRAF - - - - - 7q34 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 - Refsum disease - - Disease - - - Disorder - - - - 20301527[PMID] - - phytanoyl-CoA 2-hydroxylase - PHYH - - PAHX - PHYH1 - RD - Refsum disease - phytanoyl-CoA dioxygenase - - - gene with protein product - - - - ClinVar - PHYH - - - Ensembl - ENSG00000107537 - - - Genatlas - PHYH - - - HGNC - 8940 - - - OMIM - 602026 - - - Reactome - O14832 - - - SwissProt - O14832 - - - - - 10p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301527[PMID] - - peroxisomal biogenesis factor 7 - PEX7 - - PTS2R - RD - Refsum disease - - - gene with protein product - - - - Genatlas - PEX7 - - - HGNC - 8860 - - - OMIM - 601757 - - - SwissProt - O00628 - - - Ensembl - ENSG00000112357 - - - ClinVar - PEX7 - - - - - 6q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 169154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169154 - T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency - - Disease - - - Disorder - - - - - - interleukin 7 receptor - IL7R - - CD127 - soluble interleukin-7 receptor - lnc-IL7R - IL7RA - CDw127 - IL-7Ralpha - IL7Ralpha - Interleukin-7 receptor subunit alpha - sIL-7R - - - gene with protein product - - - - ClinVar - IL7R - - - IUPHAR - 1698 - - - Ensembl - ENSG00000168685 - - - Genatlas - IL7R - - - HGNC - 6024 - - - OMIM - 146661 - - - Reactome - P16871 - - - SwissProt - P16871 - - - - - 5p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 169150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169150 - Immunodeficiency due to a late component of complement deficiency - - Disease - - - Disorder - - - - - - complement C5 - C5 - - C5a - C5a anaphylatoxin - C5b - CPAMD4 - prepro-C5 - - - gene with protein product - - - - ClinVar - C5 - - - Ensembl - ENSG00000106804 - - - Genatlas - C5 - - - HGNC - 1331 - - - OMIM - 120900 - - - Reactome - P01031 - - - SwissProt - P01031 - - - - - 9q33.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - complement C6 - C6 - - - - gene with protein product - - - - ClinVar - C6 - - - Ensembl - ENSG00000039537 - - - Genatlas - C6 - - - HGNC - 1339 - - - OMIM - 217050 - - - Reactome - P13671 - - - SwissProt - P13671 - - - - - 5p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - complement C7 - C7 - - - - gene with protein product - - - - ClinVar - C7 - - - Ensembl - ENSG00000112936 - - - Genatlas - C7 - - - HGNC - 1346 - - - OMIM - 217070 - - - Reactome - P10643 - - - SwissProt - P10643 - - - - - 5p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - complement C8 alpha chain - C8A - - - - gene with protein product - - - - ClinVar - C8A - - - Ensembl - ENSG00000157131 - - - Genatlas - C8A - - - HGNC - 1352 - - - OMIM - 120950 - - - Reactome - P07357 - - - SwissProt - P07357 - - - - - 1p32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - complement C8 beta chain - C8B - - - - gene with protein product - - - - ClinVar - C8B - - - Ensembl - ENSG00000021852 - - - Genatlas - C8B - - - HGNC - 1353 - - - OMIM - 120960 - - - Reactome - P07358 - - - SwissProt - P07358 - - - - - 1p32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22773339[PMID] - - complement C8 gamma chain - C8G - - - - gene with protein product - - - - ClinVar - C8G - - - Ensembl - ENSG00000176919 - - - Genatlas - C8G - - - HGNC - 1354 - - - OMIM - 120930 - - - Reactome - P07360 - - - SwissProt - P07360 - - - - - 9q34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - complement C9 - C9 - - - - gene with protein product - - - - HGNC - 1358 - - - OMIM - 120940 - - - Reactome - P02748 - - - SwissProt - P02748 - - - ClinVar - C9 - - - Ensembl - ENSG00000113600 - - - Genatlas - C9 - - - - - 5p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 169160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169160 - T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta - - Disease - - - Disorder - - - - - - CD3 delta subunit of T-cell receptor complex - CD3D - - T-cell surface glycoprotein CD3 delta chain - CD3DELTA - CD3-DELTA - - - gene with protein product - - - - ClinVar - CD3D - - - Ensembl - ENSG00000167286 - - - Genatlas - CD3D - - - HGNC - 1673 - - - OMIM - 186790 - - - Reactome - P04234 - - - SwissProt - P04234 - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - CD3 epsilon subunit of T-cell receptor complex - CD3E - - T-cell surface glycoprotein CD3 epsilon chain - CD3epsilon - CD3-epsilon - - - gene with protein product - - - - ClinVar - CD3E - - - Genatlas - CD3E - - - HGNC - 1674 - - - OMIM - 186830 - - - Reactome - P07766 - - - SwissProt - P07766 - - - Ensembl - ENSG00000198851 - - - IUPHAR - 2742 - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - CD247 molecule - CD247 - - T-cell surface glycoprotein CD3 zeta chain - CD3H - CD3Q - TCRZ - CD3-ZETA - CD3ZETA - - - gene with protein product - - - - IUPHAR - 3142 - - - Ensembl - ENSG00000198821 - - - Genatlas - CD247 - - - HGNC - 1677 - - - OMIM - 186780 - - - Reactome - P20963 - - - SwissProt - P20963 - - - ClinVar - CD247 - - - - - 1q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 169157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169157 - T-B+ severe combined immunodeficiency due to CD45 deficiency - - Disease - - - Disorder - - - - 11145714[PMID] - - protein tyrosine phosphatase receptor type C - PTPRC - - GP180 - LCA - T200 - B220 - glycoprotein 180 - leukocyte-common antigen - LY5 - CD45R - - - gene with protein product - - - - ClinVar - PTPRC - - - Ensembl - ENSG00000081237 - - - Genatlas - PTPRC - - - HGNC - 9666 - - - OMIM - 151460 - - - Reactome - P08575 - - - SwissProt - P08575 - - - IUPHAR - 1852 - - - - - 1q31.3-q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947 - Northern epilepsy - - Clinical subtype - - - Subtype of disorder - - - - 21990111[PMID] - - CLN8 transmembrane ER and ERGIC protein - CLN8 - - FLJ39417 - TLCD6 - - - gene with protein product - - - - ClinVar - CLN8 - - - HGNC - 2079 - - - OMIM - 607837 - - - SwissProt - Q9UBY8 - - - Ensembl - ENSG00000182372 - - - Genatlas - CLN8 - - - - - 8p23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 169147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169147 - Immunodeficiency due to a classical component pathway complement deficiency - - Disease - - - Disorder - - - - - - complement C2 - C2 - - - - gene with protein product - - - - OMIM - 613927 - - - Reactome - P06681 - - - SwissProt - P06681 - - - Ensembl - ENSG00000166278 - - - Genatlas - C2 - - - HGNC - 1248 - - - ClinVar - C2 - - - - - 6p21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - complement C4A (Chido/Rodgers blood group) - C4A - - C4 - C4A2 - C4A3 - C4A4 - C4A6 - C4B - C4S - CO4 - CPAMD2 - RG - - - gene with protein product - - - - ClinVar - C4A - - - Ensembl - ENSG00000244731 - - - Genatlas - C4A - - - HGNC - 1323 - - - OMIM - 120810 - - - Reactome - P0C0L4 - - - SwissProt - P0C0L4 - - - - - 6p21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - complement C4B (Chido/Rodgers blood group) - C4B - - CPAMD3 - C4B1 - C4B3 - C4F - CH - CO4 - - - gene with protein product - - - - ClinVar - C4B - - - OMIM - 120820 - - - Reactome - P0C0L5 - - - SwissProt - P0C0L5 - - - Ensembl - ENSG00000224389 - - - Genatlas - C4B - - - HGNC - 1324 - - - - - 6p21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - complement C1q A chain - C1QA - - - - gene with protein product - - - - Ensembl - ENSG00000173372 - - - Genatlas - C1QA - - - HGNC - 1241 - - - OMIM - 120550 - - - Reactome - P02745 - - - SwissProt - P02745 - - - ClinVar - C1QA - - - - - 1p36.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - complement C1q B chain - C1QB - - - - gene with protein product - - - - Ensembl - ENSG00000173369 - - - Genatlas - C1QB - - - HGNC - 1242 - - - OMIM - 120570 - - - Reactome - P02746 - - - SwissProt - P02746 - - - ClinVar - C1QB - - - - - 1p36.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - complement C1q C chain - C1QC - - - - gene with protein product - - - - ClinVar - C1QC - - - Ensembl - ENSG00000159189 - - - Genatlas - C1QC - - - HGNC - 1245 - - - OMIM - 120575 - - - Reactome - P02747 - - - SwissProt - P02747 - - - - - 1p36.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - complement C1s - C1S - - - - gene with protein product - - - - ClinVar - C1S - - - Ensembl - ENSG00000182326 - - - Genatlas - C1S - - - HGNC - 1247 - - - IUPHAR - 2335 - - - OMIM - 120580 - - - Reactome - P09871 - - - SwissProt - P09871 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22773339[PMID] - - complement C1r - C1R - - - - gene with protein product - - - - Ensembl - ENSG00000159403 - - - Genatlas - C1R - - - HGNC - 1246 - - - IUPHAR - 2334 - - - OMIM - 613785 - - - Reactome - P00736 - - - SwissProt - P00736 - - - ClinVar - C1R - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 169142 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169142 - Recurrent infections due to specific granule deficiency - - Disease - - - Disorder - - - - 10359588[PMID] - - CCAAT enhancer binding protein epsilon - CEBPE - - CRP1 - - - gene with protein product - - - - ClinVar - CEBPE - - - Ensembl - ENSG00000092067 - - - Genatlas - CEBPE - - - HGNC - 1836 - - - OMIM - 600749 - - - SwissProt - Q15744 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 28369036[PMID] - - SWI/SNF related BAF chromatin remodeling complex subunit D2 - SMARCD2 - - BAF60B - chromatin remodeling complex BAF60B subunit - CRACD2 - mammalian chromatin remodeling complex BRG1-associated factor 60B - PRO2451 - Rsc6p - SWI/SNF complex 60 kDa subunit B - Swp73-like protein - - - gene with protein product - - - - ClinVar - SMARCD2 - - - HGNC - 11107 - - - Ensembl - ENSG00000108604 - - - SwissProt - Q92925 - - - OMIM - 601736 - - - Genatlas - SMARCD2 - - - Reactome - Q92925 - - - - - 17q23.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596 - X-linked centronuclear myopathy - - Disease - - - Disorder - - - - 20301605[PMID] - - myotubularin 1 - MTM1 - - - - gene with protein product - - - - ClinVar - MTM1 - - - Ensembl - ENSG00000171100 - - - Genatlas - MTM1 - - - HGNC - 7448 - - - OMIM - 300415 - - - Reactome - Q13496 - - - SwissProt - Q13496 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 610 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610 - Bethlem muscular dystrophy - - Disease - - - Disorder - - - - 20301676[PMID] - - collagen type VI alpha 1 chain - COL6A1 - - - - gene with protein product - - - - ClinVar - COL6A1 - - - SwissProt - P12109 - - - Ensembl - ENSG00000142156 - - - Genatlas - COL6A1 - - - HGNC - 2211 - - - OMIM - 120220 - - - Reactome - P12109 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301676[PMID] - - collagen type VI alpha 2 chain - COL6A2 - - - - gene with protein product - - - - ClinVar - COL6A2 - - - Ensembl - ENSG00000142173 - - - Genatlas - COL6A2 - - - HGNC - 2212 - - - OMIM - 120240 - - - Reactome - P12110 - - - SwissProt - P12110 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301676[PMID] - - collagen type VI alpha 3 chain - COL6A3 - - - - gene with protein product - - - - ClinVar - COL6A3 - - - Ensembl - ENSG00000163359 - - - Genatlas - COL6A3 - - - HGNC - 2213 - - - OMIM - 120250 - - - Reactome - P12111 - - - SwissProt - P12111 - - - - - 2q37.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24334769[PMID]_24334604[PMID] - - collagen type XII alpha 1 chain - COL12A1 - - collagen type XII proteoglycan - - - gene with protein product - - - - Ensembl - ENSG00000111799 - - - Genatlas - COL12A1 - - - HGNC - 2188 - - - OMIM - 120320 - - - Reactome - Q99715 - - - SwissProt - Q99715 - - - ClinVar - COL12A1 - - - - - 6q13-q14.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 169186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169186 - Autosomal recessive centronuclear myopathy - - Disease - - - Disorder - - - - 23975875[PMID] - - titin - TTN - - CMH9 - CMPD4 - FLJ32040 - LGMD2J - MYLK5 - TMD - - - gene with protein product - - - - Reactome - Q8WZ42 - - - SwissProt - Q8WZ42 - - - ClinVar - TTN - - - Ensembl - ENSG00000155657 - - - Genatlas - TTN - - - HGNC - 12403 - - - IUPHAR - 2265 - - - OMIM - 188840 - - - - - 2q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25087613[PMID] - - striated muscle enriched protein kinase - SPEG - - striated muscle preferentially expressed protein kinase - BPEG - KIAA1297 - MGC12676 - SPEGalpha - SPEGbeta - MYLK6 - - - gene with protein product - - - - Reactome - Q15772 - - - Ensembl - ENSG00000072195 - - - Genatlas - SPEG - - - HGNC - 16901 - - - IUPHAR - 2203 - - - OMIM - 615950 - - - SwissProt - Q15772 - - - ClinVar - SPEG - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20839240[PMID] - - ryanodine receptor 1 - RYR1 - - PPP1R137 - RYR - protein phosphatase 1, regulatory subunit 137 - - - gene with protein product - - - - ClinVar - RYR1 - - - Ensembl - ENSG00000196218 - - - Genatlas - RYR1 - - - HGNC - 10483 - - - IUPHAR - 747 - - - OMIM - 180901 - - - Reactome - P21817 - - - SwissProt - P21817 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17676042[PMID] - - bridging integrator 1 - BIN1 - - Myc box-dependent-interacting protein 1 - AMPH2 - SH3P9 - amphiphysin II - amphiphysin 2 - - - gene with protein product - - - - Reactome - O00499 - - - Genatlas - BIN1 - - - HGNC - 1052 - - - OMIM - 601248 - - - SwissProt - O00499 - - - Ensembl - ENSG00000136717 - - - ClinVar - BIN1 - - - - - 2q14.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464 - Incontinentia pigmenti - - Malformation syndrome - - - Disorder - - - - 20301645[PMID] - - inhibitor of nuclear factor kappa B kinase regulatory subunit gamma - IKBKG - - FIP-3 - FIP3 - Fip3p - IKK-gamma - NEMO - ZC2HC9 - IkB kinase-associated protein 1 - IkB kinase subunit gamma - NF-kappa-B essential modulator - IKKG - IKKAP1 - I-kappa-B kinase subunit gamma - 14.7K (adenovirus E3 protein) interacting protein 3 - - - gene with protein product - - - - ClinVar - IKBKG - - - Ensembl - ENSG00000269335 - - - Genatlas - IKBKG - - - HGNC - 5961 - - - OMIM - 300248 - - - Reactome - Q9Y6K9 - - - SwissProt - Q9Y6K9 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 169189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169189 - Autosomal dominant centronuclear myopathy - - Disease - - - Disorder - - - - - - ryanodine receptor 1 - RYR1 - - PPP1R137 - RYR - protein phosphatase 1, regulatory subunit 137 - - - gene with protein product - - - - ClinVar - RYR1 - - - Ensembl - ENSG00000196218 - - - Genatlas - RYR1 - - - HGNC - 10483 - - - IUPHAR - 747 - - - OMIM - 180901 - - - Reactome - P21817 - - - SwissProt - P21817 - - - - - 19q13.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 16227997[PMID] - - dynamin 2 - DNM2 - - CMT2M - CMTDI1 - CMTDIB - DI-CMTB - DYN2 - DYNII - cytoskeletal protein - dynamin II - - - gene with protein product - - - - ClinVar - DNM2 - - - Ensembl - ENSG00000079805 - - - Genatlas - DNM2 - - - HGNC - 2974 - - - OMIM - 602378 - - - Reactome - P50570 - - - SwissProt - P50570 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - myogenic factor 6 - MYF6 - - MRF4 - bHLHc4 - herculin - muscle-specific regulatory factor 4 - - - gene with protein product - - - - ClinVar - MYF6 - - - Ensembl - ENSG00000111046 - - - Genatlas - MYF6 - - - HGNC - 7566 - - - OMIM - 159991 - - - Reactome - P23409 - - - SwissProt - P23409 - - - - - 12q21.31 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 25260562[PMID] - - bridging integrator 1 - BIN1 - - Myc box-dependent-interacting protein 1 - AMPH2 - SH3P9 - amphiphysin II - amphiphysin 2 - - - gene with protein product - - - - Reactome - O00499 - - - Genatlas - BIN1 - - - HGNC - 1052 - - - OMIM - 601248 - - - SwissProt - O00499 - - - Ensembl - ENSG00000136717 - - - ClinVar - BIN1 - - - - - 2q14.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 17008356[PMID] - - myotubularin related protein 14 - MTMR14 - - FLJ22405 - FLJ90311 - egg-derived tyrosine phosphatase homolog (Drosophila) - hEDTP - hJumpy - - - gene with protein product - - - - ClinVar - MTMR14 - - - Ensembl - ENSG00000163719 - - - Genatlas - MTMR14 - - - HGNC - 26190 - - - OMIM - 611089 - - - Reactome - Q8NCE2 - - - SwissProt - Q8NCE2 - - - - - 3p25.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 44 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44 - Neonatal adrenoleukodystrophy - - Disease - - - Disorder - - - - - - peroxisomal biogenesis factor 2 - PEX2 - - PAF-1 - PMP35 - RNF72 - ZWS3 - Zellweger syndrome - peroxin 2 - - - gene with protein product - - - - ClinVar - PEX2 - - - ClinVar - - - - Reactome - P28328 - - - Ensembl - ENSG00000164751 - - - Genatlas - PXMP3 - - - HGNC - 9717 - - - OMIM - 170993 - - - SwissProt - P28328 - - - - - 8q21.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - peroxisomal biogenesis factor 1 - PEX1 - - - - gene with protein product - - - - Ensembl - ENSG00000127980 - - - Genatlas - PEX1 - - - HGNC - 8850 - - - OMIM - 602136 - - - SwissProt - O43933 - - - ClinVar - PEX1 - - - - - 7q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - peroxisomal biogenesis factor 10 - PEX10 - - RNF69 - - - gene with protein product - - - - Reactome - O60683 - - - Ensembl - ENSG00000157911 - - - Genatlas - PEX10 - - - HGNC - 8851 - - - OMIM - 602859 - - - SwissProt - O60683 - - - ClinVar - PEX10 - - - - - 1p36.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - peroxisomal biogenesis factor 12 - PEX12 - - - - gene with protein product - - - - Reactome - O00623 - - - ClinVar - PEX12 - - - Ensembl - ENSG00000108733 - - - Genatlas - PEX12 - - - HGNC - 8854 - - - OMIM - 601758 - - - SwissProt - O00623 - - - - - 17q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - peroxisomal biogenesis factor 13 - PEX13 - - - - gene with protein product - - - - OMIM - 601789 - - - SwissProt - Q92968 - - - Reactome - Q92968 - - - Ensembl - ENSG00000162928 - - - Genatlas - PEX13 - - - HGNC - 8855 - - - ClinVar - PEX13 - - - - - 2p15 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - peroxisomal biogenesis factor 14 - PEX14 - - - - gene with protein product - - - - Ensembl - ENSG00000142655 - - - Genatlas - PEX14 - - - HGNC - 8856 - - - OMIM - 601791 - - - SwissProt - O75381 - - - Reactome - O75381 - - - ClinVar - PEX14 - - - - - 1p36.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - peroxisomal biogenesis factor 16 - PEX16 - - - - gene with protein product - - - - Ensembl - ENSG00000121680 - - - Genatlas - PEX16 - - - HGNC - 8857 - - - OMIM - 603360 - - - SwissProt - Q9Y5Y5 - - - ClinVar - PEX16 - - - Reactome - Q9Y5Y5 - - - - - 11p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - peroxisomal biogenesis factor 19 - PEX19 - - D1S2223E - HK33 - PMP1 - PMPI - PXMP1 - housekeeping gene, 33kD - - - gene with protein product - - - - Ensembl - ENSG00000162735 - - - Genatlas - PEX19 - - - HGNC - 9713 - - - OMIM - 600279 - - - Reactome - P40855 - - - SwissProt - P40855 - - - ClinVar - PEX19 - - - - - 1q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - peroxisomal biogenesis factor 26 - PEX26 - - FLJ20695 - - - gene with protein product - - - - Reactome - Q7Z412 - - - HGNC - 22965 - - - OMIM - 608666 - - - SwissProt - Q7Z412 - - - Ensembl - ENSG00000215193 - - - Genatlas - PEX26 - - - ClinVar - PEX26 - - - - - 22q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - peroxisomal biogenesis factor 3 - PEX3 - - - - gene with protein product - - - - Ensembl - ENSG00000034693 - - - Genatlas - PEX3 - - - HGNC - 8858 - - - OMIM - 603164 - - - Reactome - P56589 - - - SwissProt - P56589 - - - ClinVar - PEX3 - - - - - 6q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - peroxisomal biogenesis factor 5 - PEX5 - - peroxisomal import receptor 5 - peroxisomal targeting signal 1 receptor - PTS1R - - - gene with protein product - - - - Reactome - P50542 - - - Ensembl - ENSG00000139197 - - - Genatlas - PEX5 - - - HGNC - 9719 - - - OMIM - 600414 - - - SwissProt - P50542 - - - ClinVar - PEX5 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - peroxisomal biogenesis factor 6 - PEX6 - - PAF-2 - PXAAA1 - - - gene with protein product - - - - Ensembl - ENSG00000124587 - - - Genatlas - PEX6 - - - HGNC - 8859 - - - OMIM - 601498 - - - SwissProt - Q13608 - - - ClinVar - PEX6 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - peroxisomal biogenesis factor 11 beta - PEX11B - - PEX11ß - Peroxisomal membrane protein 11B - PEX11beta - - - gene with protein product - - - - Reactome - O96011 - - - Ensembl - ENSG00000131779 - - - Genatlas - PEX11B - - - HGNC - 8853 - - - OMIM - 603867 - - - SwissProt - O96011 - - - ClinVar - PEX11B - - - - - 1q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 56 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56 - Alkaptonuria - - Disease - - - Disorder - - - - 20301627[PMID] - - homogentisate 1,2-dioxygenase - HGD - - HGO - homogentisate oxidase - - - gene with protein product - - - - ClinVar - HGD - - - Ensembl - ENSG00000113924 - - - Genatlas - HGD - - - HGNC - 4892 - - - OMIM - 607474 - - - Reactome - Q93099 - - - SwissProt - Q93099 - - - - - 3q13.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=963 - Acromegaly - - Disease - - - Disorder - - - - 20530095[PMID]_23038625[PMID]_23300914[PMID]_20616502[PMID] - - AHR interacting HSP90 co-chaperone - AIP - - ARA9 - FKBP16 - XAP2 - aryl hydrocarbon receptor-associated protein 9 - X-associated protein-2 - hepatitis B virus X-associated cellular protein 2 - FKBP37 - FKBP prolyl isomerase 16 - FK506-binding protein 37 - Ah receptor activated 9 - - - gene with protein product - - - - ClinVar - AIP - - - Reactome - O00170 - - - Ensembl - ENSG00000110711 - - - Genatlas - AIP - - - HGNC - 358 - - - OMIM - 605555 - - - SwissProt - O00170 - - - - - 11q13.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 25470569[PMID] - - G protein-coupled receptor 101 - GPR101 - - - - gene with protein product - - - - ClinVar - GPR101 - - - Ensembl - ENSG00000165370 - - - Genatlas - GPR101 - - - HGNC - 14963 - - - IUPHAR - 125 - - - OMIM - 300393 - - - SwissProt - Q96P66 - - - - - Xq26.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 1059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1059 - Blue rubber bleb nevus - - Malformation syndrome - - - Disorder - - - - 27519652[PMID] - - TEK receptor tyrosine kinase - TEK - - CD202b - TIE-2 - TIE2 - VMCM1 - angiopoietin-1 receptor - - - gene with protein product - - - - Ensembl - ENSG00000120156 - - - Genatlas - TEK - - - HGNC - 11724 - - - IUPHAR - 1842 - - - OMIM - 600221 - - - Reactome - Q02763 - - - SwissProt - Q02763 - - - ClinVar - TEK - - - - - 9p21.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 22 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=22 - Succinic semialdehyde dehydrogenase deficiency - - Disease - - - Disorder - - - - 20301374[PMID] - - aldehyde dehydrogenase 5 family member A1 - ALDH5A1 - - SSADH - SSDH - succinate-semialdehyde dehydrogenase - - - gene with protein product - - - - SwissProt - P51649 - - - Ensembl - ENSG00000112294 - - - Genatlas - ALDH5A1 - - - HGNC - 408 - - - OMIM - 610045 - - - Reactome - P51649 - - - IUPHAR - 2466 - - - ClinVar - ALDH5A1 - - - - - 6p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 29 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29 - Mevalonic aciduria - - Clinical subtype - - - Subtype of disorder - - - - - - mevalonate kinase - MVK - - LH receptor mRNA-binding protein - LRBP - MK - mevalonic aciduria - - - gene with protein product - - - - ClinVar - MVK - - - Ensembl - ENSG00000110921 - - - Genatlas - MVK - - - HGNC - 7530 - - - IUPHAR - 640 - - - OMIM - 251170 - - - Reactome - Q03426 - - - SwissProt - Q03426 - - - - - 12q24.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 245 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=245 - Nager syndrome - - Malformation syndrome - - - Disorder - - - - 22541558[PMID] - - splicing factor 3b subunit 4 - SF3B4 - - Hsh49 - SAP49 - SF3b49 - - - gene with protein product - - - - ClinVar - SF3B4 - - - Ensembl - ENSG00000143368 - - - Genatlas - SF3B4 - - - HGNC - 10771 - - - OMIM - 605593 - - - Reactome - Q15427 - - - SwissProt - Q15427 - - - - - 1q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 30 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30 - Hereditary orotic aciduria - - Disease - - - Disorder - - - - 9042911[PMID]_19562503[PMID] - - uridine monophosphate synthetase - UMPS - - orotate phosphoribosyl transferase and orotidine-5'-decarboxylase - - - gene with protein product - - - - ClinVar - UMPS - - - Ensembl - ENSG00000114491 - - - Genatlas - UMPS - - - HGNC - 12563 - - - OMIM - 613891 - - - Reactome - P11172 - - - SwissProt - P11172 - - - - - 3q21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 36 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36 - Acrocallosal syndrome - - Malformation syndrome - - - Disorder - - - - 23633388[PMID]_12414818[PMID] - - GLI family zinc finger 3 - GLI3 - - ACLS - DNA-binding protein - PAP-A - PAPA - PAPA1 - PAPB - PPDIV - oncogene GLI3 - zinc finger protein GLI3 - - - gene with protein product - - - - Ensembl - ENSG00000106571 - - - ClinVar - GLI3 - - - Genatlas - GLI3 - - - HGNC - 4319 - - - OMIM - 165240 - - - Reactome - P10071 - - - SwissProt - P10071 - - - - - 7p14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21552264[PMID]_23142271[PMID] - - kinesin family member 7 - KIF7 - - JBTS12 - - - gene with protein product - - - - ClinVar - KIF7 - - - Ensembl - ENSG00000166813 - - - Genatlas - KIF7 - - - HGNC - 30497 - - - OMIM - 611254 - - - Reactome - Q2M1P5 - - - SwissProt - Q2M1P5 - - - - - 15q26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 915 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=915 - Aarskog-Scott syndrome - - Malformation syndrome - - - Disorder - - - - - - FYVE, RhoGEF and PH domain containing 1 - FGD1 - - ZFYVE3 - - - gene with protein product - - - - HGNC - 3663 - - - OMIM - 300546 - - - Reactome - P98174 - - - SwissProt - P98174 - - - ClinVar - FGD1 - - - Ensembl - ENSG00000102302 - - - Genatlas - FGD1 - - - - - Xp11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2614 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2614 - Nail-patella syndrome - - Malformation syndrome - - - Disorder - - - - 20301311[PMID] - - LIM homeobox transcription factor 1 beta - LMX1B - - - - gene with protein product - - - - ClinVar - LMX1B - - - Ensembl - ENSG00000136944 - - - Genatlas - LMX1B - - - HGNC - 6654 - - - OMIM - 602575 - - - SwissProt - O60663 - - - - - 9q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 33 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33 - Isovaleric acidemia - - Disease - - - Disorder - - - - - - isovaleryl-CoA dehydrogenase - IVD - - ACAD2 - IVDH - - - gene with protein product - - - - Ensembl - ENSG00000128928 - - - Genatlas - IVD - - - HGNC - 6186 - - - OMIM - 607036 - - - Reactome - P26440 - - - SwissProt - P26440 - - - ClinVar - IVD - - - - - 15q15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=819 - Smith-Magenis syndrome - - Malformation syndrome - - - Disorder - - - - 28213671[PMID] - - DEAF1 transcription factor - DEAF1 - - NUDR - SPN - ZMYND5 - - - gene with protein product - - - - ClinVar - DEAF1 - - - Ensembl - ENSG00000177030 - - - Genatlas - DEAF1 - - - HGNC - 14677 - - - OMIM - 602635 - - - SwissProt - O75398 - - - Reactome - O75398 - - - - - 11p15.5 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 20301487[PMID] - - retinoic acid induced 1 - RAI1 - - DKFZP434A139 - KIAA1820 - MGC12824 - SMS - - - gene with protein product - - - - ClinVar - RAI1 - - - Ensembl - ENSG00000108557 - - - Genatlas - RAI1 - - - HGNC - 9834 - - - OMIM - 607642 - - - Reactome - Q7Z5J4 - - - SwissProt - Q7Z5J4 - - - - - 17p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 9177775[PMID]_7825574[PMID]_15690371[PMID] - - FLII actin remodeling protein - FLII - - FLI - FLIL - Fli1 - MGC39265 - - - gene with protein product - - - - ClinVar - FLII - - - OMIM - 600362 - - - SwissProt - Q13045 - - - Ensembl - ENSG00000177731 - - - Genatlas - FLII - - - HGNC - 3750 - - - - - 17p11.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 28213671[PMID] - - IQ motif and Sec7 domain ArfGEF 2 - IQSEC2 - - brefeldin A resistant Arf-guanine nucleotide exchange factor 1 - KIAA0522 - BRAG1 - IQ-ArfGEF - - - gene with protein product - - - - Ensembl - ENSG00000124313 - - - Genatlas - IQSEC2 - - - HGNC - 29059 - - - OMIM - 300522 - - - SwissProt - Q5JU85 - - - ClinVar - IQSEC2 - - - - - Xp11.22 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 168615 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168615 - Hereditary persistence of alpha-fetoprotein - - Biological anomaly - - - Disorder - - - - 7684942[PMID] - - alpha fetoprotein - AFP - - FETA - alpha-fetoprotein - - - gene with protein product - - - - Reactome - P02771 - - - ClinVar - AFP - - - Ensembl - ENSG00000081051 - - - Genatlas - AFP - - - HGNC - 317 - - - OMIM - 104150 - - - SwissProt - P02771 - - - - - 4q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 168612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168612 - Congenital deficiency in alpha-fetoprotein - - Biological anomaly - - - Disorder - - - - 15280901[PMID] - - alpha fetoprotein - AFP - - FETA - alpha-fetoprotein - - - gene with protein product - - - - Reactome - P02771 - - - ClinVar - AFP - - - Ensembl - ENSG00000081051 - - - Genatlas - AFP - - - HGNC - 317 - - - OMIM - 104150 - - - SwissProt - P02771 - - - - - 4q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1452 - Cleidocranial dysplasia - - Malformation syndrome - - - Disorder - - - - - - RUNX family transcription factor 2 - RUNX2 - - AML3 - PEBP2A1 - PEBP2aA1 - - - gene with protein product - - - - ClinVar - RUNX2 - - - Ensembl - ENSG00000124813 - - - Genatlas - RUNX2 - - - HGNC - 10472 - - - OMIM - 600211 - - - Reactome - Q13950 - - - SwissProt - Q13950 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 168629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168629 - Autosomal thrombocytopenia with normal platelets - - Etiological subtype - - - Subtype of disorder - - - - 31217188[PMID] - - IKAROS family zinc finger 5 - IKZF5 - - Pegasus - FLJ22973 - - - gene with protein product - - - - HGNC - 14283 - - - OMIM - 606238 - - - Ensembl - ENSG00000095574 - - - SwissProt - Q9H5V7 - - - - - 10q26.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27365488[PMID] - - ETS variant transcription factor 6 - ETV6 - - TEL - TEL oncogene - - - gene with protein product - - - - Reactome - P41212 - - - Ensembl - ENSG00000139083 - - - Genatlas - ETV6 - - - HGNC - 3495 - - - OMIM - 600618 - - - SwissProt - P41212 - - - ClinVar - ETV6 - - - - - 12p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12890928[PMID] - - microtubule associated serine/threonine kinase like - MASTL - - FLJ14813 - Gwl - THC2 - greatwall kinase homolog - - - gene with protein product - - - - Ensembl - ENSG00000120539 - - - Genatlas - MASTL - - - HGNC - 19042 - - - IUPHAR - 1514 - - - OMIM - 608221 - - - Reactome - Q96GX5 - - - SwissProt - Q96GX5 - - - ClinVar - MASTL - - - - - 10p12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18345000[PMID]_24326104[PMID] - - cytochrome c, somatic - CYCS - - CYC - HCS - - - gene with protein product - - - - ClinVar - CYCS - - - Ensembl - ENSG00000172115 - - - Genatlas - CYCS - - - HGNC - 19986 - - - OMIM - 123970 - - - Reactome - P99999 - - - SwissProt - P99999 - - - - - 7p15.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26175287[PMID] - - ankyrin repeat domain containing 26 - ANKRD26 - - KIAA1074 - - - gene with protein product - - - - ClinVar - ANKRD26 - - - Ensembl - ENSG00000107890 - - - Genatlas - ANKRD26 - - - HGNC - 29186 - - - OMIM - 610855 - - - SwissProt - Q9UPS8 - - - - - 10p12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 168624 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168624 - Familial scaphocephaly syndrome, McGillivray type - - Malformation syndrome - - - Disorder - - - - 16061565[PMID] - - fibroblast growth factor receptor 2 - FGFR2 - - CD332 - CEK3 - Crouzon syndrome - ECT1 - K-SAM - Pfeiffer syndrome - TK14 - TK25 - - - gene with protein product - - - - Ensembl - ENSG00000066468 - - - Genatlas - FGFR2 - - - HGNC - 3689 - - - IUPHAR - 1809 - - - OMIM - 176943 - - - Reactome - P21802 - - - SwissProt - P21802 - - - ClinVar - FGFR2 - - - - - 10q26.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=193 - Cohen syndrome - - Malformation syndrome - - - Disorder - - - - - - vacuolar protein sorting 13 homolog B - VPS13B - - bridge-like lipid transfer protein family member 5B - BLTP5B - - - gene with protein product - - - - ClinVar - VPS13B - - - Ensembl - ENSG00000132549 - - - Genatlas - VPS13B - - - HGNC - 2183 - - - OMIM - 607817 - - - SwissProt - Q7Z7G8 - - - - - 8q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1334 - Chronic mucocutaneous candidiasis - - Disease - - - Disorder - - - - 19864674[PMID] - - C-type lectin domain containing 7A - CLEC7A - - DECTIN-1 - CD369 - dectin-1 - hDectin-1 - SCARE2 - - - gene with protein product - - - - ClinVar - CLEC7A - - - Ensembl - ENSG00000172243 - - - Genatlas - CLEC7A - - - HGNC - 14558 - - - OMIM - 606264 - - - Reactome - Q9BXN2 - - - SwissProt - Q9BXN2 - - - IUPHAR - 2927 - - - - - 12p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21350122[PMID] - - interleukin 17 receptor A - IL17RA - - CD217 - CDw217 - IL-17RA - hIL-17R - - - gene with protein product - - - - Ensembl - ENSG00000177663 - - - Genatlas - IL17RA - - - HGNC - 5985 - - - OMIM - 605461 - - - SwissProt - Q96F46 - - - IUPHAR - 1738 - - - ClinVar - IL17RA - - - Reactome - Q96F46 - - - - - 22q11.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21350122[PMID] - - interleukin 17F - IL17F - - IL-17F - ML-1 - ML1 - - - gene with protein product - - - - Ensembl - ENSG00000112116 - - - Genatlas - IL17F - - - HGNC - 16404 - - - OMIM - 606496 - - - SwissProt - Q96PD4 - - - ClinVar - IL17F - - - Reactome - Q96PD4 - - - - - 6p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24120361[PMID] - - TRAF3 interacting protein 2 - TRAF3IP2 - - ACT1 - CIKS - DKFZP586G0522 - - - gene with protein product - - - - Genatlas - TRAF3IP2 - - - HGNC - 1343 - - - OMIM - 607043 - - - SwissProt - O43734 - - - ClinVar - TRAF3IP2 - - - Ensembl - ENSG00000056972 - - - Reactome - O43734 - - - - - 6q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25918342[PMID] - - interleukin 17 receptor C - IL17RC - - IL17-RL - - - gene with protein product - - - - Ensembl - ENSG00000163702 - - - Genatlas - IL17RC - - - HGNC - 18358 - - - IUPHAR - 1740 - - - OMIM - 610925 - - - SwissProt - Q8NAC3 - - - Reactome - Q8NAC3 - - - ClinVar - IL17RC - - - - - 3p25.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 168583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168583 - Hereditary North American Indian childhood cirrhosis - - Clinical subtype - - - Subtype of disorder - - - - 12417987[PMID] - - UTP4 small subunit processome component - UTP4 - - CIRHIN - FLJ14728 - KIAA1988 - NAIC - TEX292 - UTP4, small subunit (SSU) processome component, homolog (yeast) - - - gene with protein product - - - - Reactome - Q969X6 - - - Ensembl - ENSG00000141076 - - - Genatlas - UTP4 - - - HGNC - 1983 - - - OMIM - 607456 - - - SwissProt - Q969X6 - - - ClinVar - UTP4 - - - - - 16q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1369 - Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome - - Disease - - - Disorder - - - - 32004446[PMID] - - triokinase and FMN cyclase - TKFC - - DKFZP586B1621 - NET45 - FAD-AMP lyase (cyclizing) - - - gene with protein product - - - - HGNC - 24552 - - - Ensembl - ENSG00000149476 - - - SwissProt - Q3LXA3 - - - Reactome - Q3LXA3 - - - OMIM - 615844 - - - - - 11q12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22187496[PMID] - - solute carrier family 25 member 4 - SLC25A4 - - T1 - ADP/ATP carrier 1 - ADP/ATP translocase 1 - AAC1 - - - gene with protein product - - - - Ensembl - ENSG00000151729 - - - Genatlas - SLC25A4 - - - HGNC - 10990 - - - OMIM - 103220 - - - Reactome - P12235 - - - SwissProt - P12235 - - - ClinVar - SLC25A4 - - - IUPHAR - 1062 - - - - - 4q35.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22284826[PMID] - - acylglycerol kinase - AGK - - FLJ10842 - - - gene with protein product - - - - Ensembl - ENSG00000006530 - - - Genatlas - AGK - - - HGNC - 21869 - - - OMIM - 610345 - - - Reactome - Q53H12 - - - SwissProt - Q53H12 - - - ClinVar - AGK - - - - - 7q34 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 168577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168577 - Hereditary cryohydrocytosis with reduced stomatin - - Disease - - - Disorder - - - - 21791420[PMID] - - solute carrier family 2 member 1 - SLC2A1 - - DYT18 - DYT9 - GLUT-1 - dystonia gene 18 - dystonia gene 9 - - - gene with protein product - - - - ClinVar - SLC2A1 - - - IUPHAR - 875 - - - Ensembl - ENSG00000117394 - - - Genatlas - SLC2A1 - - - HGNC - 11005 - - - OMIM - 138140 - - - Reactome - P11166 - - - SwissProt - P11166 - - - - - 1p34.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 168593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168593 - Sudden infant death-dysgenesis of the testes syndrome - - Malformation syndrome - - - Disorder - - - - 15273283[PMID] - - TSPY like 1 - TSPYL1 - - - - gene with protein product - - - - Ensembl - ENSG00000189241 - - - Genatlas - TSPYL1 - - - HGNC - 12382 - - - OMIM - 604714 - - - SwissProt - Q9H0U9 - - - ClinVar - TSPYL1 - - - - - 6q22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 168588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168588 - Hyperandrogenism due to cortisone reductase deficiency - - Malformation syndrome - - - Disorder - - - - 18628520[PMID] - - hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase - H6PD - - 6-phosphogluconolactonase - GDH/6PGL endoplasmic bifunctional protein - H6PDH - - - gene with protein product - - - - Ensembl - ENSG00000049239 - - - Genatlas - H6PD - - - HGNC - 4795 - - - OMIM - 138090 - - - SwissProt - O95479 - - - ClinVar - H6PD - - - - - 1p36.22 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 21325058[PMID] - - hydroxysteroid 11-beta dehydrogenase 1 - HSD11B1 - - SDR26C1 - short chain dehydrogenase/reductase family 26C, member 1 - - - gene with protein product - - - - Ensembl - ENSG00000117594 - - - Genatlas - HSD11B1 - - - HGNC - 5208 - - - IUPHAR - 2763 - - - OMIM - 600713 - - - Reactome - P28845 - - - SwissProt - P28845 - - - ClinVar - HSD11B1 - - - - - 1q32.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 168601 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168601 - Congenital enteropathy due to enteropeptidase deficiency - - Disease - - - Disorder - - - - 11719902[PMID] - - transmembrane serine protease 15 - TMPRSS15 - - ENTK - MGC133046 - enteropeptidase - proenterokinase - - - gene with protein product - - - - ClinVar - PRSS7 - - - Ensembl - ENSG00000154646 - - - Genatlas - PRSS7 - - - HGNC - 9490 - - - OMIM - 606635 - - - SwissProt - P98073 - - - IUPHAR - 3189 - - - - - 21q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 168598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168598 - Methionine adenosyltransferase I/III deficiency - - Disease - - - Disorder - - - - 22951388[PMID] - - methionine adenosyltransferase 1A - MAT1A - - MAT - MATA1 - S-adenosylmethionine synthetase - SAMS - SAMS1 - MAT-I/III - methionine adenosyltransferase I/III - S-adenosylmethionine synthase isoform type-1 - - - gene with protein product - - - - Ensembl - ENSG00000151224 - - - Genatlas - MAT1A - - - HGNC - 6903 - - - OMIM - 610550 - - - Reactome - Q00266 - - - SwissProt - Q00266 - - - ClinVar - MAT1A - - - - - 10q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 168606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168606 - Seborrhea-like dermatitis with psoriasiform elements - - Disease - - - Disorder - - - - 16751772[PMID] - - zinc finger protein 750 - ZNF750 - - FLJ13841 - Zfp750 - - - gene with protein product - - - - Ensembl - ENSG00000141579 - - - Genatlas - ZNF750 - - - HGNC - 25843 - - - OMIM - 610226 - - - Reactome - Q32MQ0 - - - SwissProt - Q32MQ0 - - - ClinVar - ZNF750 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1154 - Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome - - Malformation syndrome - - - Disorder - - - - 23487782[PMID] - - piezo type mechanosensitive ion channel component 2 - PIEZO2 - - FLJ23144 - FLJ23403 - FLJ34907 - HsT748 - HsT771 - - - gene with protein product - - - - ClinVar - PIEZO2 - - - IUPHAR - 2946 - - - Ensembl - ENSG00000154864 - - - Genatlas - PIEZO2 - - - HGNC - 26270 - - - OMIM - 613629 - - - SwissProt - Q9H5I5 - - - - - 18p11.22-p11.21 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 168558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168558 - 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency - - Disease - - - Disorder - - - - 18182448[PMID]_15507506[PMID]_11502818[PMID] - - cytochrome P450 family 11 subfamily A member 1 - CYP11A1 - - P450SCC - cholesterol monooxygenase (side-chain-cleaving) - - - gene with protein product - - - - ClinVar - CYP11A1 - - - Ensembl - ENSG00000140459 - - - Genatlas - CYP11A1 - - - HGNC - 2590 - - - IUPHAR - 1358 - - - OMIM - 118485 - - - Reactome - P05108 - - - SwissProt - P05108 - - - - - 15q24.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 168563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168563 - 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome - - Malformation syndrome - - - Disorder - - - - 11017805[PMID] - - desert hedgehog signaling molecule - DHH - - HHG-3 - MGC35145 - - - gene with protein product - - - - Ensembl - ENSG00000139549 - - - Genatlas - DHH - - - HGNC - 2865 - - - OMIM - 605423 - - - Reactome - O43323 - - - SwissProt - O43323 - - - ClinVar - DHH - - - - - 12q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=124 - Diamond-Blackfan anemia - - Disease - - - Disorder - - - - 28280134[PMID] - - ribosomal protein L18 - RPL18 - - 60S ribosomal protein L18 - L18 - eL18 - - - gene with protein product - - - - ClinVar - RPL18 - - - HGNC - 10310 - - - Ensembl - ENSG00000063177 - - - SwissProt - Q07020 - - - OMIM - 604179 - - - Genatlas - RPL18 - - - Reactome - Q07020 - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25424902[PMID] - - ribosomal protein S27 - RPS27 - - metallopanstimulin 1 - MPS-1 - MPS1 - S27 - eS27 - - - gene with protein product - - - - SwissProt - P42677 - - - Ensembl - ENSG00000177954 - - - Reactome - P42677 - - - ClinVar - RPS27 - - - HGNC - 10416 - - - Genatlas - RPS27 - - - OMIM - 603702 - - - - - 1q21.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 25424902[PMID] - - ribosomal protein L27 - RPL27 - - L27 - 60S ribosomal protein L27 - eL27 - - - gene with protein product - - - - Genatlas - RPL27 - - - SwissProt - P61353 - - - Ensembl - ENSG00000131469 - - - Reactome - P61353 - - - ClinVar - RPL27 - - - HGNC - 10328 - - - OMIM - 607526 - - - - - 17q21.31 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 27909223[PMID] - - ribosomal protein S15a - RPS15A - - uS8 - S15A - - - gene with protein product - - - - HGNC - 10389 - - - Ensembl - ENSG00000134419 - - - SwissProt - P62244 - - - Reactome - P62244 - - - OMIM - 603674 - - - - - 16p12.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24942156[PMID] - - TSR2 ribosome maturation factor - TSR2 - - DT1P1A10 - RP1-112K5.2 - WGG motif containing 1 - WGG1 - escortin - - - gene with protein product - - - - Reactome - Q969E8 - - - Ensembl - ENSG00000158526 - - - HGNC - 25455 - - - OMIM - 300945 - - - SwissProt - Q969E8 - - - - - Xp11.22 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 28280134[PMID] - - ribosomal protein L35 - RPL35 - - uL29 - 60S ribosomal protein L35 - L35 - - - gene with protein product - - - - OMIM - 618315 - - - HGNC - 10344 - - - Ensembl - ENSG00000136942 - - - SwissProt - P42766 - - - Genatlas - RPL35 - - - Reactome - P42766 - - - ClinVar - RPL35 - - - - - 9q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34961992[PMID] - - ribosomal protein L8 - RPL8 - - L8 - uL2 - - - gene with protein product - - - - HGNC - 10368 - - - OMIM - 604177 - - - SwissProt - P62917 - - - Ensembl - ENSG00000161016 - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 35213692[PMID] - - HEAT repeat containing 3 - HEATR3 - - FLJ20718 - - - gene with protein product - - - - HGNC - 26087 - - - Ensembl - ENSG00000155393 - - - OMIM - 614951 - - - SwissProt - Q7Z4Q2 - - - - - 16q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25042156[PMID] - - ribosomal protein L31 - RPL31 - - L31 - eL31 - - - gene with protein product - - - - Ensembl - ENSG00000071082 - - - SwissProt - P62899 - - - Reactome - P62899 - - - Genatlas - RPL31 - - - OMIM - 617415 - - - ClinVar - RPL31 - - - HGNC - 10334 - - - - - 2q11.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 31799629[PMID] - - ribosomal protein L9 - RPL9 - - L9 - uL6 - - - gene with protein product - - - - Genatlas - RPL9 - - - SwissProt - P32969 - - - Reactome - P32969 - - - ClinVar - RPL9 - - - Ensembl - ENSG00000163682 - - - HGNC - 10369 - - - OMIM - 603686 - - - - - 4p14 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30503522[PMID] - - adenosine deaminase 2 - ADA2 - - ADGF - - - gene with protein product - - - - Ensembl - ENSG00000093072 - - - Genatlas - CECR1 - - - HGNC - 1839 - - - OMIM - 607575 - - - Reactome - Q9NZK5 - - - SwissProt - Q9NZK5 - - - ClinVar - ADA2 - - - - - 22q11.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32790018[PMID] - - ribosomal protein S20 - RPS20 - - S20 - uS10 - - - gene with protein product - - - - ClinVar - RPS20 - - - Ensembl - ENSG00000008988 - - - Genatlas - RPS20 - - - HGNC - 10405 - - - OMIM - 603682 - - - Reactome - P60866 - - - SwissProt - P60866 - - - - - 8q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301769[PMID] - - ribosomal protein S19 - RPS19 - - eS19 - DBA - Diamond-Blackfan anemia - S19 - - - gene with protein product - - - - ClinVar - RPS19 - - - Ensembl - ENSG00000105372 - - - Genatlas - RPS19 - - - HGNC - 10402 - - - OMIM - 603474 - - - Reactome - P39019 - - - SwissProt - P39019 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301769[PMID] - - ribosomal protein S24 - RPS24 - - S24 - eS24 - - - gene with protein product - - - - ClinVar - RPS24 - - - Ensembl - ENSG00000138326 - - - Genatlas - RPS24 - - - HGNC - 10411 - - - OMIM - 602412 - - - Reactome - P62847 - - - SwissProt - P62847 - - - - - 10q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24952648[PMID]_22706301[PMID] - - GATA binding protein 1 - GATA1 - - ERYF1 - GATA-1 - NF-E1 - NFE1 - nuclear factor, erythroid 1 - - - gene with protein product - - - - ClinVar - GATA1 - - - Ensembl - ENSG00000102145 - - - Genatlas - GATA1 - - - HGNC - 4170 - - - OMIM - 305371 - - - Reactome - P15976 - - - SwissProt - P15976 - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301769[PMID] - - ribosomal protein S17 - RPS17 - - MGC72007 - RPS17L1 - RPS17L2 - S17 - eS17 - - - gene with protein product - - - - ClinVar - RPS17 - - - HGNC - 10397 - - - OMIM - 180472 - - - Reactome - P08708 - - - SwissProt - P08708 - - - Ensembl - ENSG00000182774 - - - Genatlas - RPS17 - - - - - 15q25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301769[PMID] - - ribosomal protein S7 - RPS7 - - eS7 - S7 - - - gene with protein product - - - - Genatlas - RPS7 - - - HGNC - 10440 - - - OMIM - 603658 - - - Reactome - P62081 - - - SwissProt - P62081 - - - Ensembl - ENSG00000171863 - - - ClinVar - RPS7 - - - - - 2p25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301769[PMID] - - ribosomal protein L5 - RPL5 - - uL18 - L5 - PPP1R135 - protein phosphatase 1, regulatory subunit 135 - - - gene with protein product - - - - Ensembl - ENSG00000122406 - - - Genatlas - RPL5 - - - HGNC - 10360 - - - OMIM - 603634 - - - Reactome - P46777 - - - SwissProt - P46777 - - - ClinVar - RPL5 - - - - - 1p22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301769[PMID] - - ribosomal protein L11 - RPL11 - - 60S ribosomal protein L11 - uL5 - L11 - - - gene with protein product - - - - Ensembl - ENSG00000142676 - - - Genatlas - RPL11 - - - HGNC - 10301 - - - OMIM - 604175 - - - Reactome - P62913 - - - SwissProt - P62913 - - - ClinVar - RPL11 - - - - - 1p36.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301769[PMID] - - ribosomal protein L35a - RPL35A - - L35A - GIG33 - eL33 - - - gene with protein product - - - - Reactome - P18077 - - - SwissProt - P18077 - - - ClinVar - RPL35A - - - Ensembl - ENSG00000182899 - - - Genatlas - RPL35A - - - HGNC - 10345 - - - OMIM - 180468 - - - - - 3q29 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301769[PMID] - - ribosomal protein S10 - RPS10 - - MGC88819 - S10 - eS10 - - - gene with protein product - - - - ClinVar - RPS10 - - - Ensembl - ENSG00000124614 - - - Genatlas - RPS10 - - - HGNC - 10383 - - - OMIM - 603632 - - - Reactome - P46783 - - - SwissProt - P46783 - - - - - 6p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301769[PMID] - - ribosomal protein S26 - RPS26 - - eS26 - 40S ribosomal protein S26 - S26 - - - gene with protein product - - - - ClinVar - RPS26 - - - Ensembl - ENSG00000197728 - - - Genatlas - RPS26 - - - HGNC - 10414 - - - OMIM - 603701 - - - Reactome - P62854 - - - SwissProt - P62854 - - - - - 12q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301769[PMID]_22431104[PMID] - - ribosomal protein L26 - RPL26 - - L26 - uL24 - - - gene with protein product - - - - HGNC - 10327 - - - OMIM - 603704 - - - Reactome - P61254 - - - SwissProt - P61254 - - - ClinVar - RPL26 - - - Ensembl - ENSG00000161970 - - - Genatlas - RPL26 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301769[PMID]_23812780[PMID] - - ribosomal protein L15 - RPL15 - - EC45 - L15 - RPL10 - RPLY10 - RPYL10 - eL15 - - - gene with protein product - - - - Genatlas - RPL15 - - - HGNC - 10306 - - - OMIM - 604174 - - - Reactome - P61313 - - - SwissProt - P61313 - - - Ensembl - ENSG00000174748 - - - ClinVar - RPL15 - - - - - 3p24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24829207[PMID] - - ribosomal protein S29 - RPS29 - - S29 - uS14 - - - gene with protein product - - - - ClinVar - RPS29 - - - HGNC - 10419 - - - OMIM - 603633 - - - Reactome - P62273 - - - SwissProt - P62273 - - - Ensembl - ENSG00000213741 - - - Genatlas - RPS29 - - - - - 14q21.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24942156[PMID] - - ribosomal protein S28 - RPS28 - - eS28 - 40S ribosomal protein S28 - S28 - - - gene with protein product - - - - Ensembl - ENSG00000233927 - - - Genatlas - RPS28 - - - HGNC - 10418 - - - OMIM - 603685 - - - Reactome - P62857 - - - SwissProt - P62857 - - - ClinVar - RPS28 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 168566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168566 - Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 - - Disease - - - Disorder - - - - 17033963[PMID] - - Ts translation elongation factor, mitochondrial - TSFM - - EF-TS - EF-Tsmt - - - gene with protein product - - - - Ensembl - ENSG00000123297 - - - Genatlas - TSFM - - - HGNC - 12367 - - - OMIM - 604723 - - - Reactome - P43897 - - - SwissProt - P43897 - - - ClinVar - TSFM - - - - - 12q14.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 1310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1310 - Caffey disease - - Malformation syndrome - - - Disorder - - - - 22855962[PMID] - - collagen type I alpha 1 chain - COL1A1 - - OI4 - - - gene with protein product - - - - ClinVar - COL1A1 - - - Ensembl - ENSG00000108821 - - - Genatlas - COL1A1 - - - HGNC - 2197 - - - OMIM - 120150 - - - Reactome - P02452 - - - SwissProt - P02452 - - - - - 17q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 168569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168569 - H syndrome - - Malformation syndrome - - - Disorder - - - - 18940313[PMID] - - solute carrier family 29 member 3 - SLC29A3 - - hENT3 - ENT3 - FLJ11160 - - - gene with protein product - - - - Ensembl - ENSG00000198246 - - - Genatlas - SLC29A3 - - - HGNC - 23096 - - - OMIM - 612373 - - - Reactome - Q9BZD2 - - - SwissProt - Q9BZD2 - - - IUPHAR - 1119 - - - ClinVar - SLC29A3 - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 168572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168572 - Native American myopathy - - Malformation syndrome - - - Disorder - - - - 23736855[PMID] - - SH3 and cysteine rich domain 3 - STAC3 - - MGC2793 - - - gene with protein product - - - - Reactome - Q96MF2 - - - ClinVar - STAC3 - - - OMIM - 615521 - - - SwissProt - Q96MF2 - - - Ensembl - ENSG00000185482 - - - Genatlas - STAC3 - - - HGNC - 28423 - - - - - 12q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=125 - Bloom syndrome - - Disease - - - Disorder - - - - 20301572[PMID] - - BLM RecQ like helicase - BLM - - BS - RECQ2 - RECQL3 - - - gene with protein product - - - - Ensembl - ENSG00000197299 - - - Genatlas - BLM - - - HGNC - 1058 - - - OMIM - 604610 - - - Reactome - P54132 - - - SwissProt - P54132 - - - ClinVar - BLM - - - IUPHAR - 3260 - - - - - 15q26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90 - Argininemia - - Disease - - - Disorder - - - - 20301338[PMID] - - arginase 1 - ARG1 - - arginase-1 - - - gene with protein product - - - - IUPHAR - 1244 - - - ClinVar - ARG1 - - - OMIM - 608313 - - - Reactome - P05089 - - - SwissProt - P05089 - - - Ensembl - ENSG00000118520 - - - Genatlas - ARG1 - - - HGNC - 663 - - - - - 6q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1065 - Aniridia-cerebellar ataxia-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - 27108797[PMID]_27108798[PMID] - - inositol 1,4,5-trisphosphate receptor type 1 - ITPR1 - - ACV - IP3R1 - Insp3r1 - PPP1R94 - protein phosphatase 1, regulatory subunit 94 - - - gene with protein product - - - - Ensembl - ENSG00000150995 - - - Genatlas - ITPR1 - - - HGNC - 6180 - - - OMIM - 147265 - - - Reactome - Q14643 - - - SwissProt - Q14643 - - - ClinVar - ITPR1 - - - IUPHAR - 743 - - - - - 3p26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17595013[PMID]_17148041[PMID] - - paired box 6 - PAX6 - - AN - D11S812E - WAGR - aniridia, keratitis - Aniridia 1 - Aniridia 2 - - - gene with protein product - - - - Ensembl - ENSG00000007372 - - - Genatlas - PAX6 - - - HGNC - 8620 - - - OMIM - 607108 - - - Reactome - P26367 - - - SwissProt - P26367 - - - ClinVar - PAX6 - - - - - 11p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 168454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168454 - Spondyloepimetaphyseal dysplasia, Geneviève type - - Disease - - - Disorder - - - - 27213289[PMID] - - N-acetylneuraminate synthase - NANS - - SAS - sialic acid synthase - - - gene with protein product - - - - ClinVar - NANS - - - HGNC - 19237 - - - OMIM - 605202 - - - Genatlas - NANS - - - SwissProt - Q9NR45 - - - Reactome - Q9NR45 - - - Ensembl - ENSG00000095380 - - - - - 9q22.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 1146 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1146 - Distal arthrogryposis type 1 - - Malformation syndrome - - - Disorder - - - - 25683120[PMID] - - sodium leak channel, non-selective - NALCN - - CanIon - bA430M15.1 - - - gene with protein product - - - - ClinVar - NALCN - - - Ensembl - ENSG00000102452 - - - Genatlas - NALCN - - - HGNC - 19082 - - - OMIM - 611549 - - - Reactome - Q8IZF0 - - - SwissProt - Q8IZF0 - - - IUPHAR - 750 - - - - - 13q32.3-q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23401156[PMID] - - troponin I2, fast skeletal type - TNNI2 - - DA2B - FSSV - troponin I fast twitch 2 - troponin I, fast-twitch skeletal muscle isoform - fsTnI - - - gene with protein product - - - - Ensembl - ENSG00000130598 - - - Genatlas - TNNI2 - - - HGNC - 11946 - - - OMIM - 191043 - - - Reactome - P48788 - - - SwissProt - P48788 - - - ClinVar - TNNI2 - - - - - 11p15.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23401156[PMID] - - troponin T3, fast skeletal type - TNNT3 - - AMCD2B - DA2B - DKFZp779M2348 - FSSV - troponin-T3, skeletal, fast - - - gene with protein product - - - - Ensembl - ENSG00000130595 - - - Genatlas - TNNT3 - - - HGNC - 11950 - - - OMIM - 600692 - - - Reactome - P45378 - - - SwissProt - P45378 - - - ClinVar - TNNT3 - - - - - 11p15.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23401156[PMID] - - tropomyosin 2 - TPM2 - - DA1 - NEM4 - nemaline myopathy type 4 - - - gene with protein product - - - - Ensembl - ENSG00000198467 - - - Genatlas - TPM2 - - - HGNC - 12011 - - - OMIM - 190990 - - - Reactome - P07951 - - - SwissProt - P07951 - - - ClinVar - TPM2 - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23401156[PMID] - - myosin heavy chain 3 - MYH3 - - HEMHC - MYHC-EMB - MYHSE1 - SMHCE - muscle embryonic myosin heavy chain 3 - myosin, skeletal, heavy chain, embryonic 1 - - - gene with protein product - - - - ClinVar - MYH3 - - - Ensembl - ENSG00000109063 - - - Genatlas - MYH3 - - - HGNC - 7573 - - - OMIM - 160720 - - - Reactome - P11055 - - - SwissProt - P11055 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20045868[PMID] - - myosin binding protein C1 - MYBPC1 - - slow skeletal-type muscle myosin-binding-protein C - ssMyBP-C - - - gene with protein product - - - - SwissProt - Q00872 - - - Ensembl - ENSG00000196091 - - - Genatlas - MYBPC1 - - - HGNC - 7549 - - - OMIM - 160794 - - - Reactome - Q00872 - - - ClinVar - MYBPC1 - - - - - 12q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1143 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1143 - Neurogenic arthrogryposis multiplex congenita - - Disease - - - Disorder - - - - 31960134[PMID] - - SCY1 like pseudokinase 2 - SCYL2 - - CVAK104 - KIAA1360 - coated vesicle-associated kinase of 104 kDa - - - gene with protein product - - - - Ensembl - ENSG00000136021 - - - OMIM - 616365 - - - IUPHAR - 2196 - - - SwissProt - Q6P3W7 - - - HGNC - 19286 - - - - - 12q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35077597[PMID] - - collagen type XXV alpha 1 chain - COL25A1 - - - - gene with protein product - - - - ClinVar - COL25A1 - - - Genatlas - COL25A1 - - - HGNC - 18603 - - - OMIM - 610004 - - - Reactome - Q9BXS0 - - - SwissProt - Q9BXS0 - - - Ensembl - ENSG00000188517 - - - - - 4q25 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28317099[PMID] - - endoplasmic reticulum-golgi intermediate compartment 1 - ERGIC1 - - ERGIC-32 - ERGIC32 - KIAA1181 - NET24 - - - gene with protein product - - - - HGNC - 29205 - - - Ensembl - ENSG00000113719 - - - SwissProt - Q969X5 - - - OMIM - 617946 - - - Genatlas - ERGIC1 - - - Reactome - Q969X5 - - - ClinVar - ERGIC1 - - - - - 5q35.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1147 - Sheldon-Hall syndrome - - Malformation syndrome - - - Disorder - - - - 25683120[PMID] - - sodium leak channel, non-selective - NALCN - - CanIon - bA430M15.1 - - - gene with protein product - - - - ClinVar - NALCN - - - Ensembl - ENSG00000102452 - - - Genatlas - NALCN - - - HGNC - 19082 - - - OMIM - 611549 - - - Reactome - Q8IZF0 - - - SwissProt - Q8IZF0 - - - IUPHAR - 750 - - - - - 13q32.3-q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23401156[PMID] - - troponin I2, fast skeletal type - TNNI2 - - DA2B - FSSV - troponin I fast twitch 2 - troponin I, fast-twitch skeletal muscle isoform - fsTnI - - - gene with protein product - - - - Ensembl - ENSG00000130598 - - - Genatlas - TNNI2 - - - HGNC - 11946 - - - OMIM - 191043 - - - Reactome - P48788 - - - SwissProt - P48788 - - - ClinVar - TNNI2 - - - - - 11p15.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23401156[PMID] - - troponin T3, fast skeletal type - TNNT3 - - AMCD2B - DA2B - DKFZp779M2348 - FSSV - troponin-T3, skeletal, fast - - - gene with protein product - - - - Ensembl - ENSG00000130595 - - - Genatlas - TNNT3 - - - HGNC - 11950 - - - OMIM - 600692 - - - Reactome - P45378 - - - SwissProt - P45378 - - - ClinVar - TNNT3 - - - - - 11p15.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23401156[PMID] - - tropomyosin 2 - TPM2 - - DA1 - NEM4 - nemaline myopathy type 4 - - - gene with protein product - - - - Ensembl - ENSG00000198467 - - - Genatlas - TPM2 - - - HGNC - 12011 - - - OMIM - 190990 - - - Reactome - P07951 - - - SwissProt - P07951 - - - ClinVar - TPM2 - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23401156[PMID]_16642020[PMID] - - myosin heavy chain 3 - MYH3 - - HEMHC - MYHC-EMB - MYHSE1 - SMHCE - muscle embryonic myosin heavy chain 3 - myosin, skeletal, heavy chain, embryonic 1 - - - gene with protein product - - - - ClinVar - MYH3 - - - Ensembl - ENSG00000109063 - - - Genatlas - MYH3 - - - HGNC - 7573 - - - OMIM - 160720 - - - Reactome - P11055 - - - SwissProt - P11055 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246 - Postaxial acrofacial dysostosis - - Malformation syndrome - - - Disorder - - - - 19915526[PMID] - - dihydroorotate dehydrogenase (quinone) - DHODH - - - - gene with protein product - - - - ClinVar - DHODH - - - Ensembl - ENSG00000102967 - - - Genatlas - DHODH - - - HGNC - 2867 - - - IUPHAR - 2604 - - - OMIM - 126064 - - - Reactome - Q02127 - - - SwissProt - Q02127 - - - - - 16q22.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 1775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775 - Dyskeratosis congenita - - Disease - - - Disorder - - - - 31570891[PMID] - - nucleophosmin 1 - NPM1 - - B23 - NPM - Nucleophosmin/nucleoplasmin family, member 1 - Numatrin - nucleolar phosphoprotein B23 - numatrin - nucleophosmin/nucleoplasmin family, member 1 - - - gene with protein product - - - - Ensembl - ENSG00000181163 - - - Genatlas - NPM1 - - - HGNC - 7910 - - - OMIM - 164040 - - - Reactome - P06748 - - - SwissProt - P06748 - - - ClinVar - NPM1 - - - - - 5q35.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301779[PMID] - - dyskerin pseudouridine synthase 1 - DKC1 - - Cbf5 - H/ACA ribonucleoprotein complex subunit 4 - NAP57 - NOLA4 - XAP101 - dyskerin - - - gene with protein product - - - - Ensembl - ENSG00000130826 - - - Genatlas - DKC1 - - - HGNC - 2890 - - - OMIM - 300126 - - - Reactome - O60832 - - - SwissProt - O60832 - - - ClinVar - DKC1 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301779[PMID] - - telomerase reverse transcriptase - TERT - - EST2 - TCS1 - TP2 - TRT - hEST2 - - - gene with protein product - - - - Ensembl - ENSG00000164362 - - - Genatlas - TERT - - - HGNC - 11730 - - - OMIM - 187270 - - - Reactome - O14746 - - - SwissProt - O14746 - - - ClinVar - TERT - - - - - 5p15.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301779[PMID] - - telomerase RNA component - TERC - - TER - SCARNA19 - TR - TRC3 - hTR - small Cajal body-specific RNA 19 - - - Non-coding RNA - - - - SwissProt - - - - Ensembl - ENSG00000270141 - - - Genatlas - TERC - - - ClinVar - TERC - - - HGNC - 11727 - - - OMIM - 602322 - - - - - 3q26.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301779[PMID] - - TERF1 interacting nuclear factor 2 - TINF2 - - TIN2 - - - gene with protein product - - - - Ensembl - ENSG00000092330 - - - Genatlas - TINF2 - - - HGNC - 11824 - - - OMIM - 604319 - - - Reactome - Q9BSI4 - - - SwissProt - Q9BSI4 - - - ClinVar - TINF2 - - - - - 14q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301779[PMID] - - NOP10 ribonucleoprotein - NOP10 - - MGC70651 - NOP10P - homolog of yeast Nop10p - - - gene with protein product - - - - ClinVar - NOP10 - - - Reactome - Q9NPE3 - - - Ensembl - ENSG00000182117 - - - Genatlas - NOP10 - - - HGNC - 14378 - - - OMIM - 606471 - - - SwissProt - Q9NPE3 - - - - - 15q14 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301779[PMID] - - NHP2 ribonucleoprotein - NHP2 - - FLJ20479 - - - gene with protein product - - - - HGNC - 14377 - - - OMIM - 606470 - - - Reactome - Q9NX24 - - - SwissProt - Q9NX24 - - - Ensembl - ENSG00000145912 - - - Genatlas - NHP2 - - - ClinVar - NHP2 - - - - - 5q35.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20817924[PMID]_22160078[PMID] - - U6 snRNA biogenesis phosphodiesterase 1 - USB1 - - FLJ13154 - HVSL motif containing 1 - HVSL1 - Mpn1 - U six biogenesis 1 - mutated in poikiloderma with neutropenia protein 1 - poikiloderma with neutropenia - - - gene with protein product - - - - Ensembl - ENSG00000103005 - - - Genatlas - HVSL1 - - - HGNC - 25792 - - - OMIM - 613276 - - - SwissProt - Q9BQ65 - - - ClinVar - HVSL1 - - - - - 16q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301779[PMID] - - WD repeat containing antisense to TP53 - WRAP53 - - FLJ10385 - TCAB1 - WD-encoding RNA antisense to p53 - telomerase cajal body protein 1 - - - gene with protein product - - - - ClinVar - WRAP53 - - - Ensembl - ENSG00000141499 - - - Genatlas - WRAP53 - - - HGNC - 25522 - - - OMIM - 612661 - - - Reactome - Q9BUR4 - - - SwissProt - Q9BUR4 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301779[PMID]_22532422[PMID]_22556055[PMID] - - CST telomere replication complex component 1 - CTC1 - - conserved telomere maintenance component 1 - conserved telomere capping protein 1 - AAF132 - FLJ22170 - alpha accessory factor 132 - - - gene with protein product - - - - Ensembl - ENSG00000178971 - - - Genatlas - CTC1 - - - HGNC - 26169 - - - OMIM - 613129 - - - SwissProt - Q2NKJ3 - - - ClinVar - CTC1 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23453664[PMID] - - regulator of telomere elongation helicase 1 - RTEL1 - - DKFZP434C013 - KIAA1088 - NHL - RTEL - bK3184A7.3 - - - gene with protein product - - - - ClinVar - RTEL1 - - - Ensembl - ENSG00000258366 - - - Genatlas - RTEL1 - - - HGNC - 15888 - - - OMIM - 608833 - - - Reactome - Q9NZ71 - - - SwissProt - Q9NZ71 - - - - - 20q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25893599[PMID] - - poly(A)-specific ribonuclease - PARN - - DAN - deadenylation nuclease - - - gene with protein product - - - - Ensembl - ENSG00000140694 - - - Genatlas - PARN - - - HGNC - 8609 - - - OMIM - 604212 - - - Reactome - O95453 - - - SwissProt - O95453 - - - ClinVar - PARN - - - - - 16p13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35931051[PMID] - - thymidylate synthetase - TYMS - - HsT422 - TMS - Tsase - - - gene with protein product - - - - Ensembl - ENSG00000176890 - - - Genatlas - TYMS - - - HGNC - 12441 - - - IUPHAR - 2642 - - - OMIM - 188350 - - - Reactome - P04818 - - - SwissProt - P04818 - - - ClinVar - TYMS - - - - - 18p11.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1764 - Familial dysautonomia - - Disease - - - Disorder - - - - 20301359[PMID] - - elongator complex protein 1 - ELP1 - - IKAP - IKI3 - TOT1 - elongator acetyltransferase complex subunit 1 - - - gene with protein product - - - - ClinVar - IKBKAP - - - Ensembl - ENSG00000070061 - - - Genatlas - IKBKAP - - - HGNC - 5959 - - - OMIM - 603722 - - - Reactome - O95163 - - - SwissProt - O95163 - - - - - 9q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235 - Dubowitz syndrome - - Malformation syndrome - - - Disorder - - - - 24892279[PMID] - - DNA ligase 4 - LIG4 - - DNA joinase - DNA repair enzyme - polydeoxyribonucleotide synthase [ATP] 4 - polynucleotide ligase - sealase - DNA ligase IV - - - gene with protein product - - - - ClinVar - LIG4 - - - Ensembl - ENSG00000174405 - - - Genatlas - LIG4 - - - HGNC - 6601 - - - OMIM - 601837 - - - Reactome - P49917 - - - SwissProt - P49917 - - - - - 13q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22577224[PMID] - - NOP2/Sun RNA methyltransferase 2 - NSUN2 - - FLJ20303 - Misu - Myc-induced SUN-domain-containing protein - TRM4 - tRNA methyltransferase 4 homolog (S. cerevisiae) - SAKI - RNA cytosine C(5)-methyltransferase NSUN2 - - - gene with protein product - - - - Ensembl - ENSG00000037474 - - - Genatlas - NSUN2 - - - HGNC - 25994 - - - OMIM - 610916 - - - Reactome - Q08J23 - - - SwissProt - Q08J23 - - - ClinVar - NSUN2 - - - - - 5p15.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=239 - Dyggve-Melchior-Clausen disease - - Disease - - - Disorder - - - - 21280149[PMID]_12554689[PMID]_18996921[PMID]_12491225[PMID] - - dymeclin - DYM - - DMC - FLJ20071 - SMC - - - gene with protein product - - - - Ensembl - ENSG00000141627 - - - Genatlas - DYM - - - HGNC - 21317 - - - OMIM - 607461 - - - SwissProt - Q7RTS9 - - - ClinVar - DYM - - - - - 18q21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 395 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=395 - Homocystinuria due to methylene tetrahydrofolate reductase deficiency - - Disease - - - Disorder - - - - - - methylenetetrahydrofolate reductase - MTHFR - - - - gene with protein product - - - - ClinVar - MTHFR - - - OMIM - 607093 - - - Reactome - P42898 - - - SwissProt - P42898 - - - Ensembl - ENSG00000177000 - - - Genatlas - MTHFR - - - HGNC - 7436 - - - - - 1p36.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=147 - Carbamoyl-phosphate synthetase 1 deficiency - - Disease - - - Disorder - - - - 20800523[PMID] - - carbamoyl-phosphate synthase 1 - CPS1 - - carbamoyl-phosphate synthase (ammonia) - GATD6 - - - gene with protein product - - - - ClinVar - CPS1 - - - Ensembl - ENSG00000021826 - - - Genatlas - CPS1 - - - HGNC - 2323 - - - OMIM - 608307 - - - Reactome - P31327 - - - SwissProt - P31327 - - - - - 2q34 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 23 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=23 - Argininosuccinic aciduria - - Disease - - - Disorder - - - - 12384776[PMID]_21290785[PMID] - - argininosuccinate lyase - ASL - - ASAL - - - gene with protein product - - - - ClinVar - ASL - - - Ensembl - ENSG00000126522 - - - Genatlas - ASL - - - HGNC - 746 - - - OMIM - 608310 - - - Reactome - P04424 - - - SwissProt - P04424 - - - - - 7q11.21 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 45 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45 - Adenosine monophosphate deaminase deficiency - - Disease - - - Disorder - - - - - - adenosine monophosphate deaminase 1 - AMPD1 - - myoadenylate deaminase - AMPD isoform M - MAD - MADA - skeletal muscle AMPD - - - gene with protein product - - - - ClinVar - AMPD1 - - - Ensembl - ENSG00000116748 - - - Genatlas - AMPD1 - - - HGNC - 468 - - - OMIM - 102770 - - - Reactome - P23109 - - - SwissProt - P23109 - - - - - 1p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 8004104[PMID]_11139257[PMID] - - adenosine monophosphate deaminase 3 - AMPD3 - - erythrocyte-specific AMP deaminase - - - gene with protein product - - - - ClinVar - AMPD3 - - - Genatlas - AMPD3 - - - HGNC - 470 - - - OMIM - 102772 - - - Reactome - Q01432 - - - SwissProt - Q01432 - - - Ensembl - ENSG00000133805 - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226 - Dihydropteridine reductase deficiency - - Clinical subtype - - - Subtype of disorder - - - - 9744478[PMID] - - quinoid dihydropteridine reductase - QDPR - - 6,7-dihydropteridine reductase - DHPR - PKU2 - SDR33C1 - short chain dehydrogenase/reductase family 33C, member 1 - - - gene with protein product - - - - ClinVar - QDPR - - - Ensembl - ENSG00000151552 - - - Genatlas - QDPR - - - HGNC - 9752 - - - OMIM - 612676 - - - Reactome - P09417 - - - SwissProt - P09417 - - - - - 4p15.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1556 - Cutis marmorata telangiectatica congenita - - Malformation syndrome - - - Disorder - - - - 35351629[PMID] - - G protein subunit alpha 11 - GNA11 - - FBH - FBH2 - FHH2 - - - gene with protein product - - - - Reactome - P29992 - - - SwissProt - P29992 - - - Ensembl - ENSG00000088256 - - - Genatlas - GNA11 - - - HGNC - 4379 - - - OMIM - 139313 - - - ClinVar - GNA11 - - - - - 19p13.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 25957586[PMID] - - ARF like GTPase 6 interacting protein 6 - ARL6IP6 - - MGC33864 - - - gene with protein product - - - - ClinVar - ARL6IP6 - - - HGNC - 24048 - - - Ensembl - ENSG00000177917 - - - SwissProt - Q8N6S5 - - - OMIM - 616495 - - - Reactome - Q8N6S5 - - - Genatlas - ARL6IP6 - - - - - 2q23.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 1496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1496 - Corpus callosum agenesis-neuronopathy syndrome - - Disease - - - Disorder - - - - 20301546[PMID] - - solute carrier family 12 member 6 - SLC12A6 - - KCC3A - KCC3B - K-Cl cotransporter 3 - - - gene with protein product - - - - ClinVar - SLC12A6 - - - Ensembl - ENSG00000140199 - - - Genatlas - SLC12A6 - - - HGNC - 10914 - - - OMIM - 604878 - - - Reactome - Q9UHW9 - - - SwissProt - Q9UHW9 - - - IUPHAR - 973 - - - - - 15q14 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=417 - Neonatal severe primary hyperparathyroidism - - Disease - - - Disorder - - - - 29861107[PMID] - - transient receptor potential cation channel subfamily V member 6 - TRPV6 - - CaT1 - - - gene with protein product - - - - HGNC - 14006 - - - Ensembl - ENSG00000165125 - - - SwissProt - Q9H1D0 - - - OMIM - 606680 - - - IUPHAR - 512 - - - - - 7q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - calcium sensing receptor - CASR - - FHH - GPRC2A - NSHPT - severe neonatal hyperparathyroidism - - - gene with protein product - - - - Ensembl - ENSG00000036828 - - - Genatlas - CASR - - - HGNC - 1514 - - - IUPHAR - 54 - - - OMIM - 601199 - - - Reactome - P41180 - - - SwissProt - P41180 - - - ClinVar - CASR - - - - - 3q13.33-q21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2248 - Hypoplastic left heart syndrome - - Morphological anomaly - - - Disorder - - - - 11470490[PMID]_19683641[PMID]_19298922[PMID] - - gap junction protein alpha 1 - GJA1 - - CX43 - ODD - ODOD - SDTY3 - connexin 43 - oculodentodigital dysplasia (syndactyly type III) - - - gene with protein product - - - - ClinVar - GJA1 - - - Ensembl - ENSG00000152661 - - - Genatlas - GJA1 - - - HGNC - 4274 - - - OMIM - 121014 - - - Reactome - P17302 - - - SwissProt - P17302 - - - IUPHAR - 728 - - - - - 6q22.31 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 12798584[PMID]_14607454[PMID]_20456451[PMID] - - NK2 homeobox 5 - NKX2-5 - - tinman paralog (Drosophila) - CSX1 - NKX2.5 - NKX4-1 - tinman (Drosophila) homolog - - - gene with protein product - - - - Reactome - P52952 - - - SwissProt - P52952 - - - Ensembl - ENSG00000183072 - - - Genatlas - NKX2-5 - - - HGNC - 2488 - - - OMIM - 600584 - - - ClinVar - NKX2-5 - - - - - 5q35.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 2140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2140 - Congenital diaphragmatic hernia - - Morphological anomaly - - - Disorder - - - - 34547244[PMID] - - lon peptidase 1, mitochondrial - LONP1 - - LonHS - PIM1 - hLON - Mitochondrial ATP-dependent protease Lon - - - gene with protein product - - - - IUPHAR - 3180 - - - ClinVar - LONP1 - - - Genatlas - LONP1 - - - HGNC - 9479 - - - OMIM - 605490 - - - SwissProt - P36776 - - - Ensembl - ENSG00000196365 - - - - - 19p13.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 21525063[PMID] - - zinc finger protein, FOG family member 2 - ZFPM2 - - FOG2 - ZC2HC11B - ZNF89B - hFOG-2 - - - gene with protein product - - - - ClinVar - ZFPM2 - - - Ensembl - ENSG00000169946 - - - Genatlas - ZFPM2 - - - HGNC - 16700 - - - OMIM - 603693 - - - Reactome - Q8WW38 - - - SwissProt - Q8WW38 - - - - - 8q23 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 24385578[PMID] - - GATA binding protein 6 - GATA6 - - - - gene with protein product - - - - Ensembl - ENSG00000141448 - - - Genatlas - GATA6 - - - HGNC - 4174 - - - OMIM - 601656 - - - Reactome - Q92908 - - - SwissProt - Q92908 - - - ClinVar - GATA6 - - - - - 18q11.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 2116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2116 - Hartnup disease - - Disease - - - Disorder - - - - 31520464[PMID] - - collectrin, amino acid transport regulator - CLTRN - - NX17 - collectrin - - - gene with protein product - - - - HGNC - 29437 - - - Ensembl - ENSG00000147003 - - - OMIM - 300631 - - - SwissProt - Q9HBJ8 - - - - - Xp22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15286787[PMID]_15286788[PMID] - - solute carrier family 6 member 19 - SLC6A19 - - Hartnup disease - broad neutral amino acid transporter 1 - B0AT1 - Sodium-dependent neutral amino acid transporter B(0)AT1 - - - gene with protein product - - - - Ensembl - ENSG00000174358 - - - Genatlas - SLC6A19 - - - HGNC - 27960 - - - OMIM - 608893 - - - Reactome - Q695T7 - - - SwissProt - Q695T7 - - - IUPHAR - 939 - - - ClinVar - SLC6A19 - - - - - 5p15.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2118 - Hawkinsinuria - - Disease - - - Disorder - - - - 11073718[PMID]_17560158[PMID] - - 4-hydroxyphenylpyruvate dioxygenase - HPD - - 4-HPPD - 4HPPD - GLOD3 - glyoxalase domain containing 3 - HPPD - - - gene with protein product - - - - Reactome - P32754 - - - SwissProt - P32754 - - - ClinVar - HPD - - - Ensembl - ENSG00000158104 - - - Genatlas - HPD - - - HGNC - 5147 - - - IUPHAR - 2621 - - - OMIM - 609695 - - - - - 12q24.31 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=351 - Galactosialidosis - - Disease - - - Disorder - - - - - - cathepsin A - CTSA - - carboxypeptidase C - carboxypeptidase Y-like kininase - carboxypeptidase-L - deamidase - lysosomal carboxypeptidase A - lysosomal protective protein - urinary kininase - - - gene with protein product - - - - ClinVar - CTSA - - - Ensembl - ENSG00000064601 - - - Genatlas - CTSA - - - HGNC - 9251 - - - IUPHAR - 1581 - - - OMIM - 613111 - - - Reactome - P10619 - - - SwissProt - P10619 - - - - - 20q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2020 - Congenital fiber-type disproportion myopathy - - Disease - - - Disorder - - - - 27816943[PMID] - - mitogen-activated protein kinase kinase kinase 20 - MAP3K20 - - mixed lineage kinase 7 - MLK7 - MLTK - MLTKalpha - MLTKbeta - MRK - ZAK - ZAK1 homolog, leucine zipper and sterile-alpha motif kinase (Dictyostelium) - - - gene with protein product - - - - HGNC - 17797 - - - Ensembl - ENSG00000091436 - - - OMIM - 609479 - - - IUPHAR - 2289 - - - SwissProt - Q9NYL2 - - - Reactome - Q9NYL2 - - - - - 2q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301436[PMID] - - actin alpha 1, skeletal muscle - ACTA1 - - NEM3 - nemaline myopathy type 3 - - - gene with protein product - - - - ClinVar - ACTA1 - - - OMIM - 102610 - - - Reactome - P68133 - - - SwissProt - P68133 - - - Ensembl - ENSG00000143632 - - - Genatlas - ACTA1 - - - HGNC - 129 - - - - - 1q42.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301436[PMID] - - selenoprotein N - SELENON - - RSS - SELN - - - gene with protein product - - - - ClinVar - SEPN1 - - - Ensembl - ENSG00000162430 - - - Genatlas - SEPN1 - - - HGNC - 15999 - - - OMIM - 606210 - - - SwissProt - Q9NZV5 - - - - - 1p36.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22832343[PMID] - - tropomyosin 2 - TPM2 - - DA1 - NEM4 - nemaline myopathy type 4 - - - gene with protein product - - - - Ensembl - ENSG00000198467 - - - Genatlas - TPM2 - - - HGNC - 12011 - - - OMIM - 190990 - - - Reactome - P07951 - - - SwissProt - P07951 - - - ClinVar - TPM2 - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301436[PMID] - - tropomyosin 3 - TPM3 - - TRK - - - gene with protein product - - - - OMIM - 191030 - - - Reactome - P06753 - - - SwissProt - P06753 - - - Ensembl - ENSG00000143549 - - - Genatlas - TPM3 - - - HGNC - 12012 - - - ClinVar - TPM3 - - - - - 1q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23365102[PMID] - - myosin light chain 2 - MYL2 - - CMH10 - cardiac ventricular myosin light chain 2 - - - gene with protein product - - - - ClinVar - MYL2 - - - Ensembl - ENSG00000111245 - - - Genatlas - MYL2 - - - HGNC - 7583 - - - OMIM - 160781 - - - Reactome - P10916 - - - SwissProt - P10916 - - - - - 12q24.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23800289[PMID] - - integrin subunit alpha 7 - ITGA7 - - - - gene with protein product - - - - Ensembl - ENSG00000135424 - - - Genatlas - ITGA7 - - - HGNC - 6143 - - - OMIM - 600536 - - - Reactome - Q13683 - - - SwissProt - Q13683 - - - ClinVar - ITGA7 - - - IUPHAR - 2446 - - - - - 12q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23933735[PMID] - - 3-hydroxyacyl-CoA dehydratase 1 - HACD1 - - CAP - Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1 - cementum attachment protein - - - gene with protein product - - - - ClinVar - PTPLA - - - Ensembl - ENSG00000165996 - - - Genatlas - PTPLA - - - HGNC - 9639 - - - OMIM - 610467 - - - Reactome - B0YJ81 - - - SwissProt - B0YJ81 - - - - - 10p12.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2053 - Freeman-Sheldon syndrome - - Malformation syndrome - - - Disorder - - - - 25683120[PMID] - - sodium leak channel, non-selective - NALCN - - CanIon - bA430M15.1 - - - gene with protein product - - - - ClinVar - NALCN - - - Ensembl - ENSG00000102452 - - - Genatlas - NALCN - - - HGNC - 19082 - - - OMIM - 611549 - - - Reactome - Q8IZF0 - - - SwissProt - Q8IZF0 - - - IUPHAR - 750 - - - - - 13q32.3-q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16642020[PMID] - - myosin heavy chain 3 - MYH3 - - HEMHC - MYHC-EMB - MYHSE1 - SMHCE - muscle embryonic myosin heavy chain 3 - myosin, skeletal, heavy chain, embryonic 1 - - - gene with protein product - - - - ClinVar - MYH3 - - - Ensembl - ENSG00000109063 - - - Genatlas - MYH3 - - - HGNC - 7573 - - - OMIM - 160720 - - - Reactome - P11055 - - - SwissProt - P11055 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1933 - Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria - - Disease - - - Disorder - - - - 17287286[PMID]_20301762[PMID] - - succinate-CoA ligase ADP-forming subunit beta - SUCLA2 - - succinate--CoA ligase (ADP-forming) - - - gene with protein product - - - - Ensembl - ENSG00000136143 - - - Genatlas - SUCLA2 - - - HGNC - 11448 - - - OMIM - 603921 - - - Reactome - Q9P2R7 - - - SwissProt - Q9P2R7 - - - ClinVar - SUCLA2 - - - - - 13q14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1880 - Ebstein malformation of the tricuspid valve - - Morphological anomaly - - - Disorder - - - - 23956225[PMID] - - myosin heavy chain 7 - MYH7 - - CMD1S - - - gene with protein product - - - - ClinVar - MYH7 - - - OMIM - 160760 - - - Reactome - P12883 - - - SwissProt - P12883 - - - Ensembl - ENSG00000092054 - - - Genatlas - MYH7 - - - HGNC - 7577 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1885 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1885 - Isolated ectopia lentis - - Malformation syndrome - - - Disorder - - - - - - fibrillin 1 - FBN1 - - MASS - Marfan syndrome - OCTD - SGS - asprosin - - - gene with protein product - - - - ClinVar - FBN1 - - - Ensembl - ENSG00000166147 - - - Genatlas - FBN1 - - - HGNC - 3603 - - - OMIM - 134797 - - - Reactome - P35555 - - - SwissProt - P35555 - - - - - 15q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - ADAMTS like 4 - ADAMTSL4 - - DKFZP434K1772 - - - gene with protein product - - - - Ensembl - ENSG00000143382 - - - Genatlas - ADAMTSL4 - - - HGNC - 19706 - - - OMIM - 610113 - - - Reactome - Q6UY14 - - - SwissProt - Q6UY14 - - - ClinVar - ADAMTSL4 - - - - - 1q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=635 - Neuroblastoma - - Disease - - - Disorder - - - - - - MYCN proto-oncogene, bHLH transcription factor - MYCN - - MYCNOT - N-myc - bHLHe37 - - - gene with protein product - - - - Reactome - P04198 - - - ClinVar - MYCN - - - OMIM - 164840 - - - SwissProt - P04198 - - - Ensembl - ENSG00000134323 - - - Genatlas - MYCN - - - HGNC - 7559 - - - - - 2p24.3 - 1 - - - - - Biomarker tested in - - - Assessed - - - - 26560027[PMID] - - LIM domain only 1 - LMO1 - - RHOM1 - TTG1 - - - gene with protein product - - - - OMIM - 186921 - - - Genatlas - LMO1 - - - SwissProt - P25800 - - - Ensembl - ENSG00000166407 - - - Reactome - P25800 - - - ClinVar - LMO1 - - - HGNC - 6641 - - - - - 11p15.4 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 15024693[PMID] - - paired like homeobox 2B - PHOX2B - - NBPhox - Phox2b - - - gene with protein product - - - - ClinVar - PHOX2B - - - Genatlas - PHOX2B - - - HGNC - 9143 - - - OMIM - 603851 - - - SwissProt - Q99453 - - - Ensembl - ENSG00000109132 - - - - - 4p13 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 18923523[PMID] - - ALK receptor tyrosine kinase - ALK - - ALK1 - CD246 - - - gene with protein product - - - - Reactome - Q9UM73 - - - ClinVar - ALK - - - Ensembl - ENSG00000171094 - - - Genatlas - ALK - - - HGNC - 427 - - - IUPHAR - 1839 - - - OMIM - 105590 - - - SwissProt - Q9UM73 - - - - - 2p23.2-p23.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22911191[PMID] - - HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 - HACE1 - - KIAA1320 - - - gene with protein product - - - - Reactome - Q8IYU2 - - - HGNC - 21033 - - - OMIM - 610876 - - - SwissProt - Q8IYU2 - - - Ensembl - ENSG00000085382 - - - Genatlas - HACE1 - - - ClinVar - HACE1 - - - - - 6q16.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22911191[PMID] - - lin-28 homolog B - LIN28B - - CSDD2 - FLJ16517 - - - gene with protein product - - - - Ensembl - ENSG00000187772 - - - Genatlas - LIN28B - - - HGNC - 32207 - - - OMIM - 611044 - - - SwissProt - Q6ZN17 - - - Reactome - Q6ZN17 - - - ClinVar - LIN28B - - - - - 6q16.3-q21 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 2612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2612 - Linear nevus sebaceus syndrome - - Disease - - - Disorder - - - - 22683711[PMID] - - HRas proto-oncogene, GTPase - HRAS - - - - gene with protein product - - - - HGNC - 5173 - - - OMIM - 190020 - - - Reactome - P01112 - - - SwissProt - P01112 - - - Ensembl - ENSG00000174775 - - - Genatlas - HRAS - - - ClinVar - HRAS - - - IUPHAR - 2822 - - - - - 11p15.5 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 22683711[PMID] - - KRAS proto-oncogene, GTPase - KRAS - - KRAS1 - K-Ras4B - - - gene with protein product - - - - IUPHAR - 2824 - - - ClinVar - KRAS - - - Ensembl - ENSG00000133703 - - - Genatlas - KRAS - - - HGNC - 6407 - - - OMIM - 190070 - - - Reactome - P01116 - - - SwissProt - P01116 - - - - - 12p12.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 25914220[PMID] - - NRAS proto-oncogene, GTPase - NRAS - - N-ras - - - gene with protein product - - - - HGNC - 7989 - - - OMIM - 164790 - - - Reactome - P01111 - - - SwissProt - P01111 - - - Ensembl - ENSG00000213281 - - - Genatlas - NRAS - - - ClinVar - NRAS - - - IUPHAR - 2823 - - - - - 1p13.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 2635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2635 - Metatropic dysplasia - - Disease - - - Disorder - - - - 22791502[PMID] - - transient receptor potential cation channel subfamily V member 4 - TRPV4 - - CMT2C - OTRPC4 - TRP12 - VR-OAC - VRL-2 - VROAC - osmosensitive transient receptor potential channel 4 - - - gene with protein product - - - - Ensembl - ENSG00000111199 - - - Genatlas - TRPV4 - - - HGNC - 18083 - - - IUPHAR - 510 - - - OMIM - 605427 - - - Reactome - Q9HBA0 - - - SwissProt - Q9HBA0 - - - ClinVar - TRPV4 - - - - - 12q24.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=606 - Proximal myotonic myopathy - - Disease - - - Disorder - - - - 20301639[PMID] - - CCHC-type zinc finger nucleic acid binding protein - CNBP - - CNBP1 - RNF163 - ZCCHC22 - - - gene with protein product - - - - ClinVar - CNBP - - - Reactome - P62633 - - - Ensembl - ENSG00000169714 - - - Genatlas - CNBP - - - HGNC - 13164 - - - OMIM - 116955 - - - SwissProt - P62633 - - - - - 3q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 705 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=705 - Pendred syndrome - - Malformation syndrome - - - Disorder - - - - 20301640[PMID] - - solute carrier family 26 member 4 - SLC26A4 - - PDS - pendrin - Pendred syndrome - - - gene with protein product - - - - IUPHAR - 1100 - - - Ensembl - ENSG00000091137 - - - Genatlas - SLC26A4 - - - HGNC - 8818 - - - OMIM - 605646 - - - Reactome - O43511 - - - SwissProt - O43511 - - - ClinVar - SLC26A4 - - - - - 7q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301640[PMID] - - potassium inwardly rectifying channel subfamily J member 10 - KCNJ10 - - Kir1.2 - Kir4.1 - - - gene with protein product - - - - ClinVar - KCNJ10 - - - Ensembl - ENSG00000177807 - - - Genatlas - KCNJ10 - - - HGNC - 6256 - - - IUPHAR - 438 - - - OMIM - 602208 - - - Reactome - P78508 - - - SwissProt - P78508 - - - - - 1q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301640[PMID] - - forkhead box I1 - FOXI1 - - FREAC6 - - - gene with protein product - - - - Ensembl - ENSG00000168269 - - - Genatlas - FOXI1 - - - HGNC - 3815 - - - OMIM - 601093 - - - SwissProt - Q12951 - - - ClinVar - FOXI1 - - - - - 5q35.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2801 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2801 - Juvenile Paget disease - - Malformation syndrome - - - Disorder - - - - 12124406[PMID] - - TNF receptor superfamily member 11b - TNFRSF11B - - OCIF - TR1 - osteoclastogenesis inhibitory factor - - - gene with protein product - - - - IUPHAR - 1882 - - - ClinVar - TNFRSF11B - - - Ensembl - ENSG00000164761 - - - Genatlas - TNFRSF11B - - - HGNC - 11909 - - - OMIM - 602643 - - - Reactome - O00300 - - - SwissProt - O00300 - - - - - 8q24.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25063546[PMID] - - TNF receptor superfamily member 11a - TNFRSF11A - - CD265 - FEO - RANK - osteoclast differentiation factor receptor - ODFR - receptor activator of nuclear factor kappa B - TRANCE-R - TRANCE receptor - familial expansile osteolysis - - - gene with protein product - - - - IUPHAR - 1881 - - - Ensembl - ENSG00000141655 - - - Genatlas - TNFRSF11A - - - HGNC - 11908 - - - OMIM - 603499 - - - Reactome - Q9Y6Q6 - - - SwissProt - Q9Y6Q6 - - - ClinVar - TNFRSF11A - - - - - 18q21.33 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 2785 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2785 - Osteopetrosis with renal tubular acidosis - - Disease - - - Disorder - - - - - - carbonic anhydrase 2 - CA2 - - CA-II - CAII - Car2 - - - gene with protein product - - - - Ensembl - ENSG00000104267 - - - Genatlas - CA2 - - - HGNC - 1373 - - - OMIM - 611492 - - - Reactome - P00918 - - - SwissProt - P00918 - - - ClinVar - CA2 - - - IUPHAR - 3092 - - - - - 8q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2744 - Horizontal gaze palsy with progressive scoliosis - - Disease - - - Disorder - - - - 28250456[PMID] - - DCC netrin 1 receptor - DCC - - IGDCC1 - NTN1R1 - immunoglobulin superfamily, DCC subclass, member 1 - - - gene with protein product - - - - Ensembl - ENSG00000187323 - - - Genatlas - DCC - - - HGNC - 2701 - - - OMIM - 120470 - - - Reactome - P43146 - - - SwissProt - P43146 - - - ClinVar - DCC - - - - - 18q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - roundabout guidance receptor 3 - ROBO3 - - FLJ21044 - HGPS - RBIG1 - - - gene with protein product - - - - ClinVar - ROBO3 - - - Ensembl - ENSG00000154134 - - - Genatlas - ROBO3 - - - HGNC - 13433 - - - OMIM - 608630 - - - Reactome - Q96MS0 - - - SwissProt - Q96MS0 - - - - - 11q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2746 - Opsismodysplasia - - Disease - - - Disorder - - - - 23273567[PMID]_23263569[PMID] - - inositol polyphosphate phosphatase like 1 - INPPL1 - - 51C protein - SH2 domain-containing inositol 5'-phosphatase 2 - SHIP2 - phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2 - - - gene with protein product - - - - Ensembl - ENSG00000165458 - - - Genatlas - INPPL1 - - - HGNC - 6080 - - - IUPHAR - 1459 - - - ClinVar - INPPL1 - - - OMIM - 600829 - - - Reactome - O15357 - - - SwissProt - O15357 - - - - - 11q13.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2971 - Peroxisomal acyl-CoA oxidase deficiency - - Disease - - - Disorder - - - - 22508517[PMID] - - acyl-CoA oxidase 1 - ACOX1 - - PALMCOX - palmitoyl-CoA oxidase - - - gene with protein product - - - - ClinVar - ACOX1 - - - Ensembl - ENSG00000161533 - - - Genatlas - ACOX1 - - - HGNC - 119 - - - OMIM - 609751 - - - Reactome - Q15067 - - - SwissProt - Q15067 - - - - - 17q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2970 - Prune belly syndrome - - Malformation syndrome - - - Disorder - - - - 22077972[PMID] - - cholinergic receptor muscarinic 3 - CHRM3 - - acetylcholine receptor, muscarinic 3 - Acetylcholine receptor, muscarinic 3 - m3AChR - - - gene with protein product - - - - Ensembl - ENSG00000133019 - - - Genatlas - CHRM3 - - - HGNC - 1952 - - - IUPHAR - 15 - - - OMIM - 118494 - - - Reactome - P20309 - - - SwissProt - P20309 - - - ClinVar - CHRM3 - - - - - 1q43 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744 - Proteus syndrome - - Malformation syndrome - - - Disorder - - - - 21793738[PMID] - - AKT serine/threonine kinase 1 - AKT1 - - RAC-alpha - AKT - PKB - PRKBA - RAC - protein kinase B - - - gene with protein product - - - - Ensembl - ENSG00000142208 - - - Genatlas - AKT1 - - - HGNC - 391 - - - IUPHAR - 1479 - - - OMIM - 164730 - - - Reactome - P31749 - - - SwissProt - P31749 - - - ClinVar - AKT1 - - - - - 14q32.33 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 2903 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2903 - Familial spontaneous pneumothorax - - Disease - - - Disorder - - - - 15657874[PMID]_18505456[PMID] - - folliculin - FLCN - - BHD - MGC17998 - MGC23445 - DENND8B - - - gene with protein product - - - - ClinVar - FLCN - - - Ensembl - ENSG00000154803 - - - Genatlas - FLCN - - - HGNC - 27310 - - - OMIM - 607273 - - - SwissProt - Q8NFG4 - - - - - 17p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2901 - Neuralgic amyotrophy - - Disease - - - Disorder - - - - - - septin 9 - SEPTIN9 - - AF17q25 - KIAA0991 - MSF1 - Ov/Br septin - PNUTL4 - SeptD1 - peanut-like 4 (Drosophila) - - - gene with protein product - - - - Ensembl - ENSG00000184640 - - - Genatlas - SEPT9 - - - HGNC - 7323 - - - OMIM - 604061 - - - SwissProt - Q9UHD8 - - - ClinVar - SEPTIN9 - - - - - 17q25.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=718 - Isolated Pierre Robin sequence - - Malformation syndrome - - - Disorder - - - - 24934569[PMID]_19234473[PMID] - - SRY-box transcription factor 9 - SOX9 - - SRA1 - - - gene with protein product - - - - Ensembl - ENSG00000125398 - - - Genatlas - SOX9 - - - HGNC - 11204 - - - OMIM - 608160 - - - Reactome - P48436 - - - SwissProt - P48436 - - - ClinVar - SOX9 - - - - - 17q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071 - Costello syndrome - - Malformation syndrome - - - Disorder - - - - 20301680[PMID] - - HRas proto-oncogene, GTPase - HRAS - - - - gene with protein product - - - - HGNC - 5173 - - - OMIM - 190020 - - - Reactome - P01112 - - - SwissProt - P01112 - - - Ensembl - ENSG00000174775 - - - Genatlas - HRAS - - - ClinVar - HRAS - - - IUPHAR - 2822 - - - - - 11p15.5 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=763 - Pycnodysostosis - - Disease - - - Disorder - - - - 21569238[PMID] - - cathepsin K - CTSK - - PKND - - - gene with protein product - - - - ClinVar - CTSK - - - OMIM - 601105 - - - Reactome - P43235 - - - SwissProt - P43235 - - - Ensembl - ENSG00000143387 - - - Genatlas - CTSK - - - HGNC - 2536 - - - IUPHAR - 2350 - - - - - 1q21.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2301 - Congenital short bowel syndrome - - Morphological anomaly - - - Disorder - - - - 23037936[PMID] - - filamin A - FLNA - - ABP-280 - actin binding protein 280 - alpha filamin - - - gene with protein product - - - - Ensembl - ENSG00000196924 - - - Genatlas - FLNA - - - HGNC - 3754 - - - OMIM - 300017 - - - Reactome - P21333 - - - SwissProt - P21333 - - - ClinVar - FLNA - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22155368[PMID] - - CXADR like cell adhesion molecule - CLMP - - ACAM - ASAM - Adipocyte adhesion molecule - Adipocyte-specific adhesion molecule - Coxsackie- and adenovirus receptor-like membrane protein - FLJ22415 - CAR-like membrane protein - adipocyte adhesion molecule - adipocyte-specific adhesion molecule - coxsackie- and adenovirus receptor-like membrane protein - - - gene with protein product - - - - Ensembl - ENSG00000166250 - - - Genatlas - ASAM - - - HGNC - 24039 - - - OMIM - 611693 - - - SwissProt - Q9H6B4 - - - ClinVar - ASAM - - - - - 11q24.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=469 - Hereditary fructose intolerance - - Disease - - - Disorder - - - - 20848650[PMID] - - aldolase, fructose-bisphosphate B - ALDOB - - - - gene with protein product - - - - Ensembl - ENSG00000136872 - - - Genatlas - ALDOB - - - HGNC - 417 - - - OMIM - 612724 - - - Reactome - P05062 - - - SwissProt - P05062 - - - ClinVar - ALDOB - - - - - 9q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2308 - Jacobsen syndrome - - Malformation syndrome - - - Disorder - - - - 26285164[PMID] - - Fli-1 proto-oncogene, ETS transcription factor - FLI1 - - EWSR2 - SIC-1 - FLI-1 - - - gene with protein product - - - - Reactome - Q01543 - - - ClinVar - FLI1 - - - Ensembl - ENSG00000151702 - - - Genatlas - FLI1 - - - HGNC - 3749 - - - OMIM - 193067 - - - SwissProt - Q01543 - - - - - 11q24.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 2318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318 - Joubert syndrome with oculorenal defect - - Malformation syndrome - - - Disorder - - - - 20615230[PMID]_20301500[PMID] - - centrosomal protein 290 - CEP290 - - Bardet-Biedl syndrome 14 - cancer/testis antigen 87 - nephrocystin-6 - rd16 - 3H11Ag - BBS14 - CT87 - FLJ13615 - JBTS5 - Joubert syndrome 5 - KIAA0373 - LCA10 - MKS4 - Meckel syndrome, type 4 - NPHP6 - POC3 - POC3 centriolar protein homolog (Chlamydomonas) - SLSN6 - - - gene with protein product - - - - ClinVar - CEP290 - - - Ensembl - ENSG00000198707 - - - Genatlas - CEP290 - - - HGNC - 29021 - - - OMIM - 610142 - - - Reactome - O15078 - - - SwissProt - O15078 - - - - - 12q21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301500[PMID] - - coiled-coil and C2 domain containing 2A - CC2D2A - - JBTS9 - KIAA1345 - MKS6 - Meckel syndrome, type 6 - - - gene with protein product - - - - ClinVar - CC2D2A - - - Reactome - Q9P2K1 - - - SwissProt - Q9P2K1 - - - Ensembl - ENSG00000048342 - - - Genatlas - CC2D2A - - - HGNC - 29253 - - - OMIM - 612013 - - - - - 4p15.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301500[PMID] - - transmembrane protein 216 - TMEM216 - - HSPC244 - JBTS2 - MGC13379 - - - gene with protein product - - - - ClinVar - TMEM216 - - - Ensembl - ENSG00000187049 - - - Genatlas - TMEM216 - - - HGNC - 25018 - - - OMIM - 613277 - - - Reactome - Q9P0N5 - - - SwissProt - Q9P0N5 - - - - - 11q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301500[PMID]_22152675[PMID] - - transmembrane protein 237 - TMEM237 - - JBTS14 - - - gene with protein product - - - - Ensembl - ENSG00000155755 - - - Genatlas - TMEM237 - - - HGNC - 14432 - - - OMIM - 614423 - - - SwissProt - Q96Q45 - - - ClinVar - TMEM237 - - - - - 2q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22282472[PMID] - - transmembrane protein 138 - TMEM138 - - HSPC196 - JBTS16 - - - gene with protein product - - - - Ensembl - ENSG00000149483 - - - Genatlas - TMEM138 - - - HGNC - 26944 - - - OMIM - 614459 - - - SwissProt - Q9NPI0 - - - ClinVar - TMEM138 - - - - - 11q12.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22863007[PMID] - - zinc finger protein 423 - ZNF423 - - hOAZ - Early B-cell factor associated zinc finger protein - Ebfaz - JBTS19 - KIAA0760 - NPHP14 - OAZ - OLF-1/EBF associated zinc finger gene - Roaz - Zfp104 - Smad- and Olf-interacting zinc finger protein - early B-cell factor associated zinc finger protein - - - gene with protein product - - - - Ensembl - ENSG00000102935 - - - Genatlas - ZNF423 - - - HGNC - 16762 - - - OMIM - 604557 - - - SwissProt - Q2M1K9 - - - ClinVar - ZNF423 - - - - - 16q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301500[PMID]_23012439[PMID] - - transmembrane protein 231 - TMEM231 - - ALYE870 - FLJ22167 - JBTS20 - MKS11 - PRO1886 - - - gene with protein product - - - - Ensembl - ENSG00000205084 - - - Genatlas - TMEM231 - - - HGNC - 37234 - - - OMIM - 614949 - - - SwissProt - Q9H6L2 - - - ClinVar - TMEM231 - - - - - 16q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2253 - Foveal hypoplasia-presenile cataract syndrome - - Disease - - - Disorder - - - - 9931324[PMID] - - paired box 6 - PAX6 - - AN - D11S812E - WAGR - aniridia, keratitis - Aniridia 1 - Aniridia 2 - - - gene with protein product - - - - Ensembl - ENSG00000007372 - - - Genatlas - PAX6 - - - HGNC - 8620 - - - OMIM - 607108 - - - Reactome - P26367 - - - SwissProt - P26367 - - - ClinVar - PAX6 - - - - - 11p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 180188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180188 - Isolated congenital breast hypoplasia/aplasia - - Morphological anomaly - - - Disorder - - - - 24781087[PMID] - - protein tyrosine phosphatase receptor type F - PTPRF - - leukocyte antigen-related tyrosine phosphatase - leukocyte common antigen related - - - gene with protein product - - - - Reactome - P10586 - - - Ensembl - ENSG00000142949 - - - Genatlas - PTPRF - - - HGNC - 9670 - - - OMIM - 179590 - - - SwissProt - P10586 - - - IUPHAR - 1855 - - - ClinVar - PTPRF - - - - - 1p34.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502 - Trichorhinophalangeal syndrome type 2 - - Malformation syndrome - - - Disorder - - - - 25792522[PMID] - - RAD21 cohesin complex component - RAD21 - - KIAA0078 - SCC1 - hHR21 - kleisin - sister chromatid cohesion 1 - - - gene with protein product - - - - Ensembl - ENSG00000164754 - - - Genatlas - RAD21 - - - HGNC - 9811 - - - OMIM - 606462 - - - Reactome - O60216 - - - SwissProt - O60216 - - - ClinVar - RAD21 - - - - - 8q24.11 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - transcriptional repressor GATA binding 1 - TRPS1 - - GC79 - LGCR - - - gene with protein product - - - - ClinVar - TRPS1 - - - Ensembl - ENSG00000104447 - - - Genatlas - TRPS1 - - - HGNC - 12340 - - - OMIM - 604386 - - - SwissProt - Q9UHF7 - - - - - 8q23.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - exostosin glycosyltransferase 1 - EXT1 - - Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase - N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase - ttv - - - gene with protein product - - - - ClinVar - EXT1 - - - HGNC - 3512 - - - OMIM - 608177 - - - Reactome - Q16394 - - - SwissProt - Q16394 - - - Ensembl - ENSG00000182197 - - - Genatlas - EXT1 - - - - - 8q24.11 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477 - KID syndrome - - Disease - - - Disorder - - - - - - gap junction protein beta 2 - GJB2 - - CX26 - NSRD1 - connexin 26 - - - gene with protein product - - - - ClinVar - GJB2 - - - Ensembl - ENSG00000165474 - - - Genatlas - GJB2 - - - HGNC - 4284 - - - OMIM - 121011 - - - Reactome - P29033 - - - SwissProt - P29033 - - - IUPHAR - 716 - - - - - 13q12.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15140211[PMID] - - gap junction protein beta 6 - GJB6 - - CX30 - EDH - HED - connexin 30 - - - gene with protein product - - - - ClinVar - GJB6 - - - Ensembl - ENSG00000121742 - - - Genatlas - GJB6 - - - HGNC - 4288 - - - OMIM - 604418 - - - Reactome - O95452 - - - SwissProt - O95452 - - - IUPHAR - 717 - - - - - 13q12.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 506 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506 - Leigh syndrome - - Disease - - - Disorder - - - - 39169373[PMID] - - isoleucyl-tRNA synthetase 2, mitochondrial - IARS2 - - FLJ10326 - isoleucine tRNA ligase 2, mitochondrial - - - gene with protein product - - - - Ensembl - ENSG00000067704 - - - Genatlas - IARS2 - - - HGNC - 29685 - - - OMIM - 612801 - - - Reactome - Q9NSE4 - - - SwissProt - Q9NSE4 - - - ClinVar - IARS2 - - - - - 1q41 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2377 - Laurence-Moon syndrome - - Malformation syndrome - - - Disorder - - - - 25480986[PMID] - - patatin like domain 6, lysophospholipase - PNPLA6 - - NTE - SPG39 - SWS - iPLA2delta - neuropathy target esterase - sws - - - gene with protein product - - - - ClinVar - PNPLA6 - - - Reactome - Q8IY17 - - - Genatlas - PNPLA6 - - - HGNC - 16268 - - - OMIM - 603197 - - - SwissProt - Q8IY17 - - - Ensembl - ENSG00000032444 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2466 - MASA syndrome - - Clinical subtype - - - Subtype of disorder - - - - 20301657[PMID] - - L1 cell adhesion molecule - L1CAM - - neural cell adhesion molecule L1 - CD171 - CAML1 - NCAM-L1 - - - gene with protein product - - - - ClinVar - L1CAM - - - Ensembl - ENSG00000198910 - - - Genatlas - L1CAM - - - HGNC - 6470 - - - OMIM - 308840 - - - Reactome - P32004 - - - SwissProt - P32004 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560 - Marshall syndrome - - Malformation syndrome - - - Disorder - - - - - - collagen type XI alpha 1 chain - COL11A1 - - CO11A1 - STL2 - collagen XI, alpha-1 polypeptide - - - gene with protein product - - - - ClinVar - COL11A1 - - - Ensembl - ENSG00000060718 - - - Genatlas - COL11A1 - - - HGNC - 2186 - - - OMIM - 120280 - - - Reactome - P12107 - - - SwissProt - P12107 - - - - - 1p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570 - Moebius syndrome - - Disease - - - Disorder - - - - 26068067[PMID] - - plexin D1 - PLXND1 - - KIAA0620 - - - gene with protein product - - - - IUPHAR - 3299 - - - ClinVar - PLXND1 - - - Ensembl - ENSG00000004399 - - - Genatlas - PLXND1 - - - HGNC - 9107 - - - OMIM - 604282 - - - Reactome - Q9Y4D7 - - - SwissProt - Q9Y4D7 - - - - - 3q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26068067[PMID] - - REV3 like, DNA directed polymerase zeta catalytic subunit - REV3L - - POLZ - REV3 - polymerase, DNA, zeta - - - gene with protein product - - - - Ensembl - ENSG00000009413 - - - Genatlas - REV3L - - - HGNC - 9968 - - - OMIM - 602776 - - - Reactome - O60673 - - - SwissProt - O60673 - - - ClinVar - REV3L - - - - - 6q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 179494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179494 - Obesity due to leptin receptor gene deficiency - - Etiological subtype - - - Subtype of disorder - - - - 9537324[PMID]_17229951[PMID] - - leptin receptor - LEPR - - CD295 - OBR - - - gene with protein product - - - - ClinVar - LEPR - - - IUPHAR - 1712 - - - Ensembl - ENSG00000116678 - - - Genatlas - LEPR - - - HGNC - 6554 - - - OMIM - 601007 - - - Reactome - P48357 - - - SwissProt - P48357 - - - - - 1p31.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=287 - Classical Ehlers-Danlos syndrome - - Disease - - - Disorder - - - - 15580559[PMID]_22696272[PMID] - - collagen type V alpha 2 chain - COL5A2 - - AB collagen - - - gene with protein product - - - - ClinVar - COL5A2 - - - Ensembl - ENSG00000204262 - - - Genatlas - COL5A2 - - - HGNC - 2210 - - - OMIM - 120190 - - - Reactome - P05997 - - - SwissProt - P05997 - - - - - 2q32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15580559[PMID]_22696272[PMID] - - collagen type V alpha 1 chain - COL5A1 - - alpha 1 type V collagen - - - gene with protein product - - - - ClinVar - COL5A1 - - - Ensembl - ENSG00000130635 - - - Genatlas - COL5A1 - - - HGNC - 2209 - - - OMIM - 120215 - - - Reactome - P20908 - - - SwissProt - P20908 - - - - - 9q34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 10739762[PMID] - - collagen type I alpha 1 chain - COL1A1 - - OI4 - - - gene with protein product - - - - ClinVar - COL1A1 - - - Ensembl - ENSG00000108821 - - - Genatlas - COL1A1 - - - HGNC - 2197 - - - OMIM - 120150 - - - Reactome - P02452 - - - SwissProt - P02452 - - - - - 17q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1020 - Early-onset autosomal dominant Alzheimer disease - - Disease - - - Disorder - - - - 27037229[PMID] - - ATP binding cassette subfamily A member 7 - ABCA7 - - ABCX - - - gene with protein product - - - - HGNC - 37 - - - Ensembl - ENSG00000064687 - - - SwissProt - Q8IZY2 - - - OMIM - 605414 - - - Genatlas - ABCA7 - - - Reactome - Q8IZY2 - - - ClinVar - ABCA7 - - - IUPHAR - 762 - - - - - 19p13.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 23380991[PMID] - - triggering receptor expressed on myeloid cells 2 - TREM2 - - TREM-2 - Trem2a - Trem2b - Trem2c - - - gene with protein product - - - - Ensembl - ENSG00000095970 - - - Genatlas - TREM2 - - - HGNC - 17761 - - - OMIM - 605086 - - - Reactome - Q9NZC2 - - - SwissProt - Q9NZC2 - - - ClinVar - TREM2 - - - - - 6p21.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 20301414[PMID] - - presenilin 1 - PSEN1 - - FAD - PS1 - S182 - familial Alzheimer Disease - PS-1 - PSNL1 - - - gene with protein product - - - - ClinVar - PSEN1 - - - Ensembl - ENSG00000080815 - - - Genatlas - PSEN1 - - - HGNC - 9508 - - - IUPHAR - 2402 - - - OMIM - 104311 - - - Reactome - P49768 - - - SwissProt - P49768 - - - - - 14q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301414[PMID] - - presenilin 2 - PSEN2 - - AD3L - PS2 - STM2 - Alzheimer disease 3-like - E5-1 - PS-2 - - - gene with protein product - - - - ClinVar - PSEN2 - - - Ensembl - ENSG00000143801 - - - Genatlas - PSEN2 - - - HGNC - 9509 - - - IUPHAR - 2403 - - - OMIM - 600759 - - - Reactome - P49810 - - - SwissProt - P49810 - - - - - 1q42.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301414[PMID] - - amyloid beta precursor protein - APP - - peptidase nexin-II - alpha-sAPP - - - gene with protein product - - - - Ensembl - ENSG00000142192 - - - Genatlas - APP - - - HGNC - 620 - - - OMIM - 104760 - - - Reactome - P05067 - - - SwissProt - P05067 - - - ClinVar - APP - - - - - 21q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22472873[PMID] - - sortilin related receptor 1 - SORL1 - - LDLR relative with 11 ligand-binding repeats - LR11 - LRP9 - gp250 - SorLA-1 - SorLA - - - gene with protein product - - - - Reactome - Q92673 - - - Ensembl - ENSG00000137642 - - - Genatlas - SORL1 - - - HGNC - 11185 - - - OMIM - 602005 - - - SwissProt - Q92673 - - - ClinVar - SORL1 - - - - - 11q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25201778[PMID]_23234877[PMID] - - translocase of outer mitochondrial membrane 40 - TOMM40 - - C19orf1 - D19S1177E - PER-EC1 - PEREC1 - TOM40 - - - gene with protein product - - - - HGNC - 18001 - - - Ensembl - ENSG00000130204 - - - OMIM - 608061 - - - SwissProt - O96008 - - - Genatlas - TOMM40 - - - Reactome - O96008 - - - ClinVar - TOMM40 - - - - - 19q13.32 - 1 - - - - - Biomarker tested in - - - Not yet assessed - - - - - - 54 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54 - X-linked recessive ocular albinism - - Disease - - - Disorder - - - - - - adaptor related protein complex 3 subunit delta 1 - AP3D1 - - ADTD - - - gene with protein product - - - - Genatlas - AP3D1 - - - ClinVar - AP3D1 - - - Ensembl - ENSG00000065000 - - - OMIM - 607246 - - - SwissProt - O14617 - - - HGNC - 568 - - - - - 19p13.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - G protein-coupled receptor 143 - GPR143 - - ocular albinism 1 - - - gene with protein product - - - - ClinVar - GPR143 - - - Reactome - P51810 - - - Ensembl - ENSG00000101850 - - - Genatlas - GPR143 - - - HGNC - 20145 - - - IUPHAR - 203 - - - OMIM - 300808 - - - SwissProt - P51810 - - - - - Xp22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=154 - Familial isolated dilated cardiomyopathy - - Disease - - - Disorder - - - - 28472305[PMID] - - TATA-box binding protein associated factor, RNA polymerase I subunit A - TAF1A - - SL1 - TAFI48 - - - gene with protein product - - - - HGNC - 11532 - - - Ensembl - ENSG00000143498 - - - SwissProt - Q15573 - - - OMIM - 604903 - - - Genatlas - TAF1A - - - Reactome - Q15573 - - - ClinVar - TAF1A - - - - - 1q41 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31461301[PMID] - - guided entry of tail-anchored proteins factor 3, ATPase - GET3 - - TRC40 - golgi to ER traffic 3 homolog (S. cerevisiae) - ARSA-I - transmembrane domain recognition complex, 40kDa - - - gene with protein product - - - - HGNC - 752 - - - OMIM - 601913 - - - SwissProt - O43681 - - - Ensembl - ENSG00000198356 - - - - - 19p13.13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 36657711[PMID] - - vascular endothelial zinc finger 1 - VEZF1 - - DB1 - - - gene with protein product - - - - HGNC - 12949 - - - Ensembl - ENSG00000136451 - - - OMIM - 606747 - - - SwissProt - Q14119 - - - - - 17q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32514796[PMID] - - ribosomal protein L3 like - RPL3L - - - - gene with protein product - - - - Ensembl - ENSG00000140986 - - - HGNC - 10351 - - - OMIM - 617416 - - - SwissProt - Q92901 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20215591[PMID]_20301486[PMID] - - myosin binding protein C3 - MYBPC3 - - FHC - MYBP-C - cMyBP-C - - - gene with protein product - - - - IUPHAR - 2880 - - - ClinVar - MYBPC3 - - - Ensembl - ENSG00000134571 - - - Genatlas - MYBPC3 - - - HGNC - 7551 - - - OMIM - 600958 - - - Reactome - Q14896 - - - SwissProt - Q14896 - - - - - 11p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31227780[PMID] - - junctophilin 2 - JPH2 - - JP-2 - JP2 - junctophilin2 - - - gene with protein product - - - - Genatlas - JPH2 - - - HGNC - 14202 - - - OMIM - 605267 - - - SwissProt - Q9BR39 - - - Ensembl - ENSG00000149596 - - - ClinVar - JPH2 - - - - - 20q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29754768[PMID] - - phosphopantothenoylcysteine synthetase - PPCS - - FLJ11838 - - - gene with protein product - - - - HGNC - 25686 - - - Ensembl - ENSG00000127125 - - - SwissProt - Q9HAB8 - - - OMIM - 609853 - - - Genatlas - PPCS - - - Reactome - Q9HAB8 - - - ClinVar - PPCS - - - - - 1p34.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30518548[PMID] - - cyclase associated actin cytoskeleton regulatory protein 2 - CAP2 - - - - gene with protein product - - - - HGNC - 20039 - - - Ensembl - ENSG00000112186 - - - SwissProt - P40123 - - - Reactome - P40123 - - - OMIM - 618385 - - - - - 6p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35082396[PMID] - - leiomodin 2 - LMOD2 - - C-Lmod - cardiac leiomodin - - - gene with protein product - - - - HGNC - 6648 - - - Ensembl - ENSG00000170807 - - - SwissProt - Q6P5Q4 - - - OMIM - 608006 - - - - - 7q31.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15034580[PMID] - - ATP binding cassette subfamily C member 9 - ABCC9 - - CMD1O - SUR2 - sulfonylurea receptor 2 - - - gene with protein product - - - - ClinVar - ABCC9 - - - Ensembl - ENSG00000069431 - - - Genatlas - ABCC9 - - - HGNC - 60 - - - IUPHAR - 2746 - - - OMIM - 601439 - - - Reactome - O60706 - - - SwissProt - O60706 - - - - - 12p12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 9563954[PMID]_20301486[PMID] - - actin alpha cardiac muscle 1 - ACTC1 - - CMD1R - - - gene with protein product - - - - ClinVar - ACTC1 - - - Ensembl - ENSG00000159251 - - - Genatlas - ACTC1 - - - HGNC - 143 - - - OMIM - 102540 - - - Reactome - P68032 - - - SwissProt - P68032 - - - - - 15q14 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17186461[PMID]_20301486[PMID] - - presenilin 1 - PSEN1 - - FAD - PS1 - S182 - familial Alzheimer Disease - PS-1 - PSNL1 - - - gene with protein product - - - - ClinVar - PSEN1 - - - Ensembl - ENSG00000080815 - - - Genatlas - PSEN1 - - - HGNC - 9508 - - - IUPHAR - 2402 - - - OMIM - 104311 - - - Reactome - P49768 - - - SwissProt - P49768 - - - - - 14q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17186461[PMID]_20301486[PMID] - - presenilin 2 - PSEN2 - - AD3L - PS2 - STM2 - Alzheimer disease 3-like - E5-1 - PS-2 - - - gene with protein product - - - - ClinVar - PSEN2 - - - Ensembl - ENSG00000143801 - - - Genatlas - PSEN2 - - - HGNC - 9509 - - - IUPHAR - 2403 - - - OMIM - 600759 - - - Reactome - P49810 - - - SwissProt - P49810 - - - - - 1q42.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15466643[PMID]_22766342[PMID]_20301486[PMID] - - sodium voltage-gated channel alpha subunit 5 - SCN5A - - CDCD2 - CMPD2 - HB1 - HB2 - HBBD - HH1 - ICCD - IVF - LQT3 - Nav1.5 - PFHB1 - SSS1 - long QT syndrome 3 - - - gene with protein product - - - - ClinVar - SCN5A - - - Ensembl - ENSG00000183873 - - - Genatlas - SCN5A - - - HGNC - 10593 - - - IUPHAR - 582 - - - OMIM - 600163 - - - Reactome - Q14524 - - - SwissProt - Q14524 - - - - - 3p22.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 20551992[PMID] - - succinate dehydrogenase complex flavoprotein subunit A - SDHA - - FP - SDHF - flavoprotein subunit of complex II - succinate dehydrogenase [ubiquinone] flavoprotein subunit - - - gene with protein product - - - - ClinVar - SDHA - - - Ensembl - ENSG00000073578 - - - Genatlas - SDHA - - - HGNC - 10680 - - - OMIM - 600857 - - - Reactome - P31040 - - - SwissProt - P31040 - - - - - 5p15.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 10974018[PMID]_20301486[PMID] - - sarcoglycan delta - SGCD - - CMD1L - DAGD - LGMD2F - - - gene with protein product - - - - ClinVar - SGCD - - - Ensembl - ENSG00000170624 - - - Genatlas - SGCD - - - HGNC - 10807 - - - OMIM - 601411 - - - SwissProt - Q92629 - - - - - 5q33.2-q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 7616547[PMID]_9382096[PMID]_20301486[PMID] - - tafazzin, phospholipid-lysophospholipid transacylase - TAFAZZIN - - BTHS - Barth syndrome - G4.5 - TAZ1 - XAP-2 - transcriptional coactivator with PDZ-binding motif - - - gene with protein product - - - - Ensembl - ENSG00000102125 - - - Genatlas - TAZ - - - HGNC - 11577 - - - OMIM - 300394 - - - Reactome - Q16635 - - - SwissProt - Q16635 - - - ClinVar - TAZ - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15582318[PMID]_19412328[PMID]_20301486[PMID] - - titin-cap - TCAP - - 19 kDa sarcomeric protein - CMD1N - T-cap - TELE - telethonin - teneurin C-terminal associated peptide - - - gene with protein product - - - - Ensembl - ENSG00000173991 - - - Genatlas - TCAP - - - HGNC - 11610 - - - OMIM - 604488 - - - Reactome - O15273 - - - SwissProt - O15273 - - - ClinVar - TCAP - - - - - 17q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15070570[PMID]_19590045[PMID]_20301486[PMID] - - troponin I3, cardiac type - TNNI3 - - CMH7 - TNNC1 - cTNI - - - gene with protein product - - - - Ensembl - ENSG00000129991 - - - Genatlas - TNNI3 - - - HGNC - 11947 - - - OMIM - 191044 - - - Reactome - P19429 - - - SwissProt - P19429 - - - ClinVar - TNNI3 - - - - - 19q13.42 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11684629[PMID]_15542288[PMID]_20301486[PMID] - - troponin T2, cardiac type - TNNT2 - - CMPD2 - - - gene with protein product - - - - Ensembl - ENSG00000118194 - - - Genatlas - TNNT2 - - - HGNC - 11949 - - - OMIM - 191045 - - - Reactome - P45379 - - - SwissProt - P45379 - - - ClinVar - TNNT2 - - - - - 1q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11273725[PMID]_20301486[PMID] - - tropomyosin 1 - TPM1 - - - - gene with protein product - - - - Ensembl - ENSG00000140416 - - - Genatlas - TPM1 - - - HGNC - 12010 - - - OMIM - 191010 - - - Reactome - P09493 - - - SwissProt - P09493 - - - ClinVar - TPM1 - - - - - 15q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11788824[PMID]_20301486[PMID] - - titin - TTN - - CMH9 - CMPD4 - FLJ32040 - LGMD2J - MYLK5 - TMD - - - gene with protein product - - - - Reactome - Q8WZ42 - - - SwissProt - Q8WZ42 - - - ClinVar - TTN - - - Ensembl - ENSG00000155657 - - - Genatlas - TTN - - - HGNC - 12403 - - - IUPHAR - 2265 - - - OMIM - 188840 - - - - - 2q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16483541[PMID]_16793013[PMID] - - crystallin alpha B - CRYAB - - HSPB5 - - - gene with protein product - - - - ClinVar - CRYAB - - - Reactome - P02511 - - - SwissProt - P02511 - - - Ensembl - ENSG00000109846 - - - Genatlas - CRYAB - - - HGNC - 2389 - - - OMIM - 123590 - - - - - 11q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 14567970[PMID]_20301486[PMID] - - cysteine and glycine rich protein 3 - CSRP3 - - cardiac LIM protein - CLP - CMD1M - MLP - muscle LIM protein - - - gene with protein product - - - - ClinVar - CSRP3 - - - HGNC - 2472 - - - OMIM - 600824 - - - SwissProt - P50461 - - - Ensembl - ENSG00000129170 - - - Genatlas - CSRP3 - - - - - 11p15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 10430757[PMID]_20301486[PMID] - - desmin - DES - - CMD1I - CSM1 - CSM2 - intermediate filament protein - LGMD2R - cardiomyopathy, dilated 1I - - - gene with protein product - - - - ClinVar - DES - - - Ensembl - ENSG00000175084 - - - Genatlas - DES - - - HGNC - 2770 - - - OMIM - 125660 - - - Reactome - P17661 - - - SwissProt - P17661 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 14567970[PMID]_20301486[PMID] - - dystrophin - DMD - - BMD - DXS142 - DXS164 - DXS206 - DXS230 - DXS239 - DXS268 - DXS269 - DXS270 - DXS272 - muscular dystrophy, Duchenne and Becker types - - - gene with protein product - - - - Ensembl - ENSG00000198947 - - - Genatlas - DMD - - - HGNC - 2928 - - - OMIM - 300377 - - - Reactome - P11532 - - - SwissProt - P11532 - - - ClinVar - DMD - - - - - Xp21.2-p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18678517[PMID]_20301486[PMID] - - desmoglein 2 - DSG2 - - CDHF5 - - - gene with protein product - - - - ClinVar - DSG2 - - - Ensembl - ENSG00000046604 - - - Genatlas - DSG2 - - - HGNC - 3049 - - - OMIM - 125671 - - - Reactome - Q14126 - - - SwissProt - Q14126 - - - - - 18q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17036286[PMID] - - fukutin - FKTN - - LGMD2M - Ribitol-5-phosphate transferase - - - gene with protein product - - - - ClinVar - FKTN - - - Ensembl - ENSG00000106692 - - - Genatlas - FKTN - - - HGNC - 3622 - - - OMIM - 607440 - - - SwissProt - O75072 - - - - - 9q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 14662268[PMID]_14660611[PMID]_20301486[PMID] - - LIM domain binding 3 - LDB3 - - KIAA0613 - PDLIM6 - Z-band alternatively spliced PDZ motif protein - ZASP - cypher - oracle - - - gene with protein product - - - - Ensembl - ENSG00000122367 - - - Genatlas - LDB3 - - - HGNC - 15710 - - - OMIM - 605906 - - - SwissProt - O75112 - - - ClinVar - LDB3 - - - - - 10q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22242004[PMID] - - dolichol kinase - DOLK - - DK1 - KIAA1094 - dolichol kinase 1 - - - gene with protein product - - - - ClinVar - DOLK - - - Ensembl - ENSG00000175283 - - - Genatlas - DOLK - - - HGNC - 23406 - - - OMIM - 610746 - - - Reactome - Q9UPQ8 - - - SwissProt - Q9UPQ8 - - - - - 9q34.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 15998695[PMID]_20215591[PMID]_20301486[PMID] - - myosin heavy chain 6 - MYH6 - - cardiomyopathy, hypertrophic 1 - - - gene with protein product - - - - ClinVar - MYH6 - - - Ensembl - ENSG00000197616 - - - Genatlas - MYH6 - - - HGNC - 7576 - - - OMIM - 160710 - - - Reactome - P13533 - - - SwissProt - P13533 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11106718[PMID]_20301486[PMID] - - myosin heavy chain 7 - MYH7 - - CMD1S - - - gene with protein product - - - - ClinVar - MYH7 - - - OMIM - 160760 - - - Reactome - P12883 - - - SwissProt - P12883 - - - Ensembl - ENSG00000092054 - - - Genatlas - MYH7 - - - HGNC - 7577 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24777450[PMID] - - Raf-1 proto-oncogene, serine/threonine kinase - RAF1 - - C-Raf proto-oncogene, serine/threonine kinase - CRAF - Raf-1 - c-Raf - - - gene with protein product - - - - ClinVar - RAF1 - - - Ensembl - ENSG00000132155 - - - Genatlas - RAF1 - - - HGNC - 9829 - - - IUPHAR - 2184 - - - OMIM - 164760 - - - Reactome - P04049 - - - SwissProt - P04049 - - - - - 3p25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16247757[PMID]_20301486[PMID] - - thymopoietin - TMPO - - LAP2 - LEM domain containing 4 - LEMD4 - TP - - - gene with protein product - - - - ClinVar - TMPO - - - SwissProt - P42167 - - - Reactome - P42167 - - - Ensembl - ENSG00000120802 - - - Genatlas - TMPO - - - HGNC - 11875 - - - OMIM - 188380 - - - SwissProt - P42166 - - - - - 12q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15542288[PMID]_20301486[PMID] - - troponin C1, slow skeletal and cardiac type - TNNC1 - - - - gene with protein product - - - - ClinVar - TNNC1 - - - Ensembl - ENSG00000114854 - - - Genatlas - TNNC1 - - - HGNC - 11943 - - - OMIM - 191040 - - - Reactome - P63316 - - - SwissProt - P63316 - - - - - 3p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11815424[PMID]_20301486[PMID] - - vinculin - VCL - - Metavinculin - metavinculin - VINC - - - gene with protein product - - - - Ensembl - ENSG00000035403 - - - Genatlas - VCL - - - HGNC - 12665 - - - OMIM - 193065 - - - Reactome - P18206 - - - SwissProt - P18206 - - - ClinVar - VCL - - - - - 10q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 14567970[PMID]_25224718[PMID]_20301486[PMID] - - actinin alpha 2 - ACTN2 - - - - gene with protein product - - - - ClinVar - ACTN2 - - - Ensembl - ENSG00000077522 - - - Genatlas - ACTN2 - - - HGNC - 164 - - - OMIM - 102573 - - - Reactome - P35609 - - - SwissProt - P35609 - - - - - 1q43 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17416352[PMID] - - four and a half LIM domains 2 - FHL2 - - DRAL - SLIM3 - - - gene with protein product - - - - ClinVar - FHL2 - - - Ensembl - ENSG00000115641 - - - Genatlas - FHL2 - - - HGNC - 3703 - - - OMIM - 602633 - - - Reactome - Q14192 - - - SwissProt - Q14192 - - - - - 2q12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12610310[PMID]_20301486[PMID] - - phospholamban - PLN - - CMD1P - - - gene with protein product - - - - ClinVar - PLN - - - Ensembl - ENSG00000198523 - - - Genatlas - PLN - - - HGNC - 9080 - - - OMIM - 172405 - - - Reactome - P26678 - - - SwissProt - P26678 - - - - - 6q22.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21353195[PMID]_20301486[PMID] - - BAG cochaperone 3 - BAG3 - - BAG family molecular chaperone regulator 3 - - - gene with protein product - - - - Ensembl - ENSG00000151929 - - - Genatlas - BAG3 - - - HGNC - 939 - - - OMIM - 603883 - - - Reactome - O95817 - - - SwissProt - O95817 - - - ClinVar - BAG3 - - - - - 10q26.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19712804[PMID]_20301486[PMID] - - RNA binding motif protein 20 - RBM20 - - - - gene with protein product - - - - OMIM - 613171 - - - SwissProt - Q5T481 - - - Ensembl - ENSG00000203867 - - - Genatlas - RBM20 - - - HGNC - 27424 - - - ClinVar - RBM20 - - - - - 10q25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19881492[PMID]_20301486[PMID] - - nexilin F-actin binding protein - NEXN - - NELIN - nexilin - - - gene with protein product - - - - ClinVar - NEXN - - - Ensembl - ENSG00000162614 - - - Genatlas - NEXN - - - HGNC - 29557 - - - OMIM - 613121 - - - SwissProt - Q0ZGT2 - - - - - 1p31.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 21247928[PMID] - - thioredoxin reductase 2 - TXNRD2 - - TXNR2 - Selenoprotein Z - TR - TR3 - TRXR2 - Thioredoxin reductase beta - selenoprotein Z - thioredoxin reductase beta - SELZ - - - gene with protein product - - - - Ensembl - ENSG00000184470 - - - Genatlas - TXNRD2 - - - HGNC - 18155 - - - OMIM - 606448 - - - Reactome - Q9NNW7 - - - SwissProt - Q9NNW7 - - - ClinVar - TXNRD2 - - - - - 22q11.21 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 21965549[PMID] - - GATA zinc finger domain containing 1 - GATAD1 - - FLJ22489 - ODAG - Ocular development associated gene - RG083M05.2 - ocular development associated gene - - - gene with protein product - - - - Ensembl - ENSG00000157259 - - - Genatlas - GATAD1 - - - HGNC - 29941 - - - OMIM - 614518 - - - SwissProt - Q8WUU5 - - - Reactome - Q8WUU5 - - - ClinVar - GATAD1 - - - - - 7q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18006477[PMID]_22892539[PMID] - - myopalladin - MYPN - - MYOP - Sarcomeric protein myopalladin, 145 kDa - sarcomeric protein myopalladin, 145 kDa - - - gene with protein product - - - - Ensembl - ENSG00000138347 - - - Genatlas - MYPN - - - HGNC - 23246 - - - OMIM - 608517 - - - SwissProt - Q86TC9 - - - ClinVar - MYPN - - - - - 10q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17646580[PMID] - - laminin subunit alpha 4 - LAMA4 - - LAMA3 - - - gene with protein product - - - - ClinVar - LAMA4 - - - Ensembl - ENSG00000112769 - - - Genatlas - LAMA4 - - - HGNC - 6484 - - - OMIM - 600133 - - - Reactome - Q16363 - - - SwissProt - Q16363 - - - - - 6q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23768516[PMID] - - PR/SET domain 16 - PRDM16 - - KIAA1675 - MDS1/EVI1-like - MEL1 - MGC166915 - PFM13 - PR-domain zinc finger protein 16 - Transcription factor MEL1 - KMT8F - transcription factor MEL1 - - - gene with protein product - - - - Ensembl - ENSG00000142611 - - - Genatlas - PRDM16 - - - HGNC - 14000 - - - OMIM - 605557 - - - Reactome - Q9HAZ2 - - - SwissProt - Q9HAZ2 - - - ClinVar - PRDM16 - - - - - 1p36.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19525294[PMID]_20301486[PMID] - - ankyrin repeat domain 1 - ANKRD1 - - ALRP - C-193 - CARP - CVARP - MCARP - - - gene with protein product - - - - ClinVar - ANKRD1 - - - SwissProt - Q15327 - - - Ensembl - ENSG00000148677 - - - Genatlas - ANKRD1 - - - HGNC - 15819 - - - OMIM - 609599 - - - Reactome - Q15327 - - - - - 10q23.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24846508[PMID] - - lamin A/C - LMNA - - HGPS - MADA - mandibuloacral dysplasia type A - progerin - - - gene with protein product - - - - ClinVar - LMNA - - - Ensembl - ENSG00000160789 - - - Genatlas - LMNA - - - HGNC - 6636 - - - OMIM - 150330 - - - Reactome - P02545 - - - SwissProt - P02545 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30993396[PMID] - - desmoplakin - DSP - - DPI - DPII - KPPS2 - PPKS2 - - - gene with protein product - - - - ClinVar - DSP - - - Ensembl - ENSG00000096696 - - - Genatlas - DSP - - - HGNC - 3052 - - - OMIM - 125647 - - - Reactome - P15924 - - - SwissProt - P15924 - - - - - 6p24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30217752[PMID] - - heart and neural crest derivatives expressed 2 - HAND2 - - bHLHa26 - Thing2 - Hed - dHand - - - gene with protein product - - - - Genatlas - HAND2 - - - HGNC - 4808 - - - ClinVar - HAND2 - - - Ensembl - ENSG00000164107 - - - SwissProt - P61296 - - - OMIM - 602407 - - - - - 4q34.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 35044787[PMID] - - BAG cochaperone 5 - BAG5 - - - - gene with protein product - - - - HGNC - 941 - - - Ensembl - ENSG00000166170 - - - OMIM - 603885 - - - SwissProt - Q9UL15 - - - - - 14q32.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 38950288[PMID] - - chromosome 10 open reading frame 71 - C10ORF71 - - - - gene with protein product - - - - HGNC - 26973 - - - OMIM - 621202 - - - - - 10q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 84 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84 - Fanconi anemia - - Malformation syndrome - - - Disorder - - - - 26681308[PMID] - - RAD51 recombinase - RAD51 - - BRCA1/BRCA2-containing complex, subunit 5 - BRCC5 - FANCR - HsRad51 - HsT16930 - - - gene with protein product - - - - ClinVar - RAD51 - - - Ensembl - ENSG00000051180 - - - Genatlas - RAD51 - - - HGNC - 9817 - - - OMIM - 179617 - - - Reactome - Q06609 - - - SwissProt - Q06609 - - - - - 15q15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27500492[PMID] - - mitotic arrest deficient 2 like 2 - MAD2L2 - - FANCV - MAD2B - mitotic arrest deficient homolog-like 2 - polymerase (DNA-directed), zeta 2, accessory subunit - POLZ2 - REV7 - - - gene with protein product - - - - HGNC - 6764 - - - OMIM - 604094 - - - Genatlas - MAD2L2 - - - SwissProt - Q9UI95 - - - Reactome - Q9UI95 - - - Ensembl - ENSG00000116670 - - - ClinVar - MAD2L2 - - - - - 1p36.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29133208[PMID] - - BRCA1 DNA repair associated - BRCA1 - - BRCA1/BRCA2-containing complex, subunit 1 - BRCC1 - FANCS - Fanconi anemia, complementation group S - PPP1R53 - RNF53 - protein phosphatase 1, regulatory subunit 53 - - - gene with protein product - - - - Ensembl - ENSG00000012048 - - - Genatlas - BRCA1 - - - HGNC - 1100 - - - OMIM - 113705 - - - Reactome - P38398 - - - SwissProt - P38398 - - - ClinVar - BRCA1 - - - - - 17q21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22232082[PMID]_27208205[PMID] - - X-ray repair cross complementing 2 - XRCC2 - - RAD51-like - FANCU - DNA repair protein XRCC2 - - - gene with protein product - - - - Genatlas - XRCC2 - - - HGNC - 12829 - - - OMIM - 600375 - - - Reactome - O43543 - - - SwissProt - O43543 - - - Ensembl - ENSG00000196584 - - - ClinVar - XRCC2 - - - - - 7q36.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28691929[PMID] - - ring finger and WD repeat domain 3 - RFWD3 - - FANCW - FLJ10520 - RNF201 - - - gene with protein product - - - - OMIM - 614151 - - - Genatlas - RFWD3 - - - Reactome - Q6PCD5 - - - HGNC - 25539 - - - Ensembl - ENSG00000168411 - - - SwissProt - Q6PCD5 - - - ClinVar - RFWD3 - - - - - 16q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301575[PMID] - - BRCA2 DNA repair associated - BRCA2 - - BRCA1/BRCA2-containing complex, subunit 2 - BRCC2 - FAD - FAD1 - XRCC11 - - - gene with protein product - - - - SwissProt - P51587 - - - Ensembl - ENSG00000139618 - - - Genatlas - BRCA2 - - - HGNC - 1101 - - - OMIM - 600185 - - - Reactome - P51587 - - - ClinVar - BRCA2 - - - - - 13q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301575[PMID] - - BRCA1 interacting DNA helicase 1 - BRIP1 - - BACH1 - BRCA1/BRCA2-associated helicase 1 - FANCJ - OF - FANCJ helicase - BRCA1 interacting protein 1 - BRCA1-associated C-terminal helicase - - - gene with protein product - - - - Ensembl - ENSG00000136492 - - - Genatlas - BRIP1 - - - HGNC - 20473 - - - OMIM - 605882 - - - Reactome - Q9BX63 - - - SwissProt - Q9BX63 - - - ClinVar - BRIP1 - - - - - 17q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23623386[PMID] - - ERCC excision repair 4, endonuclease catalytic subunit - ERCC4 - - FANCQ - RAD1 - xeroderma pigmentosum, complementation group F - - - gene with protein product - - - - ClinVar - ERCC4 - - - HGNC - 3436 - - - OMIM - 133520 - - - Reactome - Q92889 - - - SwissProt - Q92889 - - - Ensembl - ENSG00000175595 - - - Genatlas - ERCC4 - - - - - 16p13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301575[PMID] - - FA complementation group A - FANCA - - FA-H - FAA - FAH - - - gene with protein product - - - - ClinVar - FANCA - - - Ensembl - ENSG00000187741 - - - Genatlas - FANCA - - - HGNC - 3582 - - - OMIM - 607139 - - - Reactome - O15360 - - - SwissProt - O15360 - - - - - 16q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301575[PMID] - - FA complementation group B - FANCB - - FAAP95 - FAB - FLJ34064 - - - gene with protein product - - - - ClinVar - FANCB - - - Ensembl - ENSG00000181544 - - - Genatlas - FANCB - - - HGNC - 3583 - - - OMIM - 300515 - - - Reactome - Q8NB91 - - - SwissProt - Q8NB91 - - - - - Xp22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301575[PMID] - - FA complementation group C - FANCC - - FA3 - FAC - - - gene with protein product - - - - ClinVar - FANCC - - - Ensembl - ENSG00000158169 - - - Genatlas - FANCC - - - HGNC - 3584 - - - OMIM - 613899 - - - Reactome - Q00597 - - - SwissProt - Q00597 - - - - - 9q22.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301575[PMID] - - FA complementation group D2 - FANCD2 - - FA-D2 - FAD - - - gene with protein product - - - - ClinVar - FANCD2 - - - Ensembl - ENSG00000144554 - - - Genatlas - FANCD2 - - - HGNC - 3585 - - - OMIM - 613984 - - - Reactome - Q9BXW9 - - - SwissProt - Q9BXW9 - - - - - 3p25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301575[PMID] - - FA complementation group E - FANCE - - FAE - - - gene with protein product - - - - ClinVar - FANCE - - - Ensembl - ENSG00000112039 - - - Genatlas - FANCE - - - HGNC - 3586 - - - OMIM - 613976 - - - Reactome - Q9HB96 - - - SwissProt - Q9HB96 - - - - - 6p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301575[PMID] - - FA complementation group F - FANCF - - FAF - - - gene with protein product - - - - ClinVar - FANCF - - - Ensembl - ENSG00000183161 - - - Genatlas - FANCF - - - HGNC - 3587 - - - OMIM - 613897 - - - Reactome - Q9NPI8 - - - SwissProt - Q9NPI8 - - - - - 11p14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301575[PMID] - - FA complementation group G - FANCG - - DNA repair protein XRCC9 - FAG - X-ray repair complementing defective repair in Chinese hamster cells 9 - X-ray repair, complementing defective, in Chinese hamster, 9 - - - gene with protein product - - - - ClinVar - FANCG - - - Ensembl - ENSG00000221829 - - - Genatlas - FANCG - - - HGNC - 3588 - - - OMIM - 602956 - - - Reactome - O15287 - - - SwissProt - O15287 - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301575[PMID] - - FA complementation group L - FANCL - - FLJ10335 - Pog - FAAP43 - - - gene with protein product - - - - ClinVar - FANCL - - - HGNC - 20748 - - - OMIM - 608111 - - - Reactome - Q9NW38 - - - SwissProt - Q9NW38 - - - Ensembl - ENSG00000115392 - - - Genatlas - FANCL - - - - - 2p16.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301575[PMID] - - FA complementation group M - FANCM - - FAAP250 - - - gene with protein product - - - - ClinVar - FANCM - - - Ensembl - ENSG00000187790 - - - Genatlas - FANCM - - - HGNC - 23168 - - - OMIM - 609644 - - - Reactome - Q8IYD8 - - - SwissProt - Q8IYD8 - - - - - 14q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301575[PMID] - - FA complementation group I - FANCI - - FLJ10719 - - - gene with protein product - - - - ClinVar - FANCI - - - Genatlas - FANCI - - - HGNC - 25568 - - - OMIM - 611360 - - - Reactome - Q9NVI1 - - - SwissProt - Q9NVI1 - - - Ensembl - ENSG00000140525 - - - - - 15q26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301575[PMID] - - partner and localizer of BRCA2 - PALB2 - - Fanconi anemia, complementation group N - FANCN - FLJ21816 - - - gene with protein product - - - - ClinVar - PALB2 - - - Ensembl - ENSG00000083093 - - - Genatlas - PALB2 - - - HGNC - 26144 - - - OMIM - 610355 - - - Reactome - Q86YC2 - - - SwissProt - Q86YC2 - - - - - 16p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301575[PMID] - - RAD51 paralog C - RAD51C - - FANCO - RAD51L2 - - - gene with protein product - - - - ClinVar - RAD51C - - - Ensembl - ENSG00000108384 - - - Genatlas - RAD51C - - - HGNC - 9820 - - - OMIM - 602774 - - - Reactome - O43502 - - - SwissProt - O43502 - - - - - 17q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301575[PMID] - - SLX4 structure-specific endonuclease subunit - SLX4 - - FANCP - Fanconi anemia, complementation group P - KIAA1784 - KIAA1987 - - - gene with protein product - - - - Ensembl - ENSG00000188827 - - - HGNC - 23845 - - - Genatlas - SLX4 - - - OMIM - 613278 - - - Reactome - Q8IY92 - - - SwissProt - Q8IY92 - - - ClinVar - SLX4 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26046368[PMID] - - ubiquitin conjugating enzyme E2 T - UBE2T - - FANCT - HSPC150 - - - gene with protein product - - - - Genatlas - UBE2T - - - HGNC - 25009 - - - OMIM - 610538 - - - Reactome - Q9NPD8 - - - SwissProt - Q9NPD8 - - - Ensembl - ENSG00000077152 - - - ClinVar - UBE2T - - - - - 1q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=816 - Sjögren-Larsson syndrome - - Disease - - - Disorder - - - - - - aldehyde dehydrogenase 3 family member A2 - ALDH3A2 - - FALDH - fatty aldehyde dehydrogenase - - - gene with protein product - - - - Ensembl - ENSG00000072210 - - - Genatlas - ALDH3A2 - - - HGNC - 403 - - - OMIM - 609523 - - - Reactome - P51648 - - - SwissProt - P51648 - - - ClinVar - ALDH3A2 - - - - - 17p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821 - Sotos syndrome - - Disease - - - Disorder - - - - 20301652[PMID] - - nuclear receptor binding SET domain protein 1 - NSD1 - - ARA267 - FLJ22263 - KMT3B - histone-lysine N-methyltransferase, H3 lysine-36 specific - - - gene with protein product - - - - ClinVar - NSD1 - - - IUPHAR - 2696 - - - Ensembl - ENSG00000165671 - - - Genatlas - NSD1 - - - HGNC - 14234 - - - OMIM - 606681 - - - Reactome - Q96L73 - - - SwissProt - Q96L73 - - - - - 5q35.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25753423[PMID]_31585108[PMID] - - APC regulator of WNT signaling pathway 2 - APC2 - - APCL - adenomatous polyposis coli like - - - gene with protein product - - - - ClinVar - APC2 - - - Ensembl - ENSG00000115266 - - - Genatlas - APC2 - - - HGNC - 24036 - - - OMIM - 612034 - - - SwissProt - O95996 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 3204 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3204 - Stormorken-Sjaastad-Langslet syndrome - - Disease - - - Disorder - - - - 24591628[PMID] - - ORAI calcium release-activated calcium modulator 1 - ORAI1 - - CRACM1 - FLJ14466 - calcium release-activated calcium modulator 1 - - - gene with protein product - - - - Ensembl - ENSG00000276045 - - - Genatlas - ORAI1 - - - HGNC - 25896 - - - OMIM - 610277 - - - Reactome - Q96D31 - - - SwissProt - Q96D31 - - - IUPHAR - 2964 - - - ClinVar - ORAI1 - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 24591628[PMID] - - stromal interaction molecule 1 - STIM1 - - D11S4896E - GOK - - - gene with protein product - - - - Genatlas - STIM1 - - - HGNC - 11386 - - - OMIM - 605921 - - - Reactome - Q13586 - - - SwissProt - Q13586 - - - Ensembl - ENSG00000167323 - - - ClinVar - STIM1 - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 3205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205 - Sturge-Weber syndrome - - Malformation syndrome - - - Disorder - - - - 23656586[PMID] - - G protein subunit alpha q - GNAQ - - G-ALPHA-q - GAQ - - - gene with protein product - - - - IUPHAR - 2914 - - - Ensembl - ENSG00000156052 - - - Genatlas - GNAQ - - - HGNC - 4390 - - - OMIM - 600998 - - - Reactome - P50148 - - - SwissProt - P50148 - - - ClinVar - GNAQ - - - - - 9q21.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 3320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3320 - Thrombocytopenia-absent radius syndrome - - Malformation syndrome - - - Disorder - - - - 22366785[PMID] - - RNA binding motif protein 8A - RBM8A - - BOV-1A - BOV-1B - BOV-1C - Y14 - ZNRP - binder of OVCA1 - exon junction complex core component Y14 - - - gene with protein product - - - - Ensembl - ENSG00000265241 - - - Genatlas - RBM8A - - - HGNC - 9905 - - - OMIM - 605313 - - - Reactome - Q9Y5S9 - - - SwissProt - Q9Y5S9 - - - ClinVar - RBM8A - - - - - 1q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 887 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=887 - VACTERL/VATER association - - Malformation syndrome - - - Disorder - - - - 19006232[PMID] - - homeobox D13 - HOXD13 - - synpolydactyly - - - gene with protein product - - - - Reactome - P35453 - - - ClinVar - HOXD13 - - - Ensembl - ENSG00000128714 - - - Genatlas - HOXD13 - - - HGNC - 5136 - - - OMIM - 142989 - - - SwissProt - P35453 - - - - - 2q31.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 - Cerebrotendinous xanthomatosis - - Disease - - - Disorder - - - - 20301583[PMID] - - cytochrome P450 family 27 subfamily A member 1 - CYP27A1 - - CP27 - CTX - cerebrotendinous xanthomatosis - - - gene with protein product - - - - ClinVar - CYP27A1 - - - IUPHAR - 1369 - - - Ensembl - ENSG00000135929 - - - Genatlas - CYP27A1 - - - HGNC - 2605 - - - OMIM - 606530 - - - Reactome - Q02318 - - - SwissProt - Q02318 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447 - Weaver syndrome - - Malformation syndrome - - - Disorder - - - - - - nuclear receptor binding SET domain protein 1 - NSD1 - - ARA267 - FLJ22263 - KMT3B - histone-lysine N-methyltransferase, H3 lysine-36 specific - - - gene with protein product - - - - ClinVar - NSD1 - - - IUPHAR - 2696 - - - Ensembl - ENSG00000165671 - - - Genatlas - NSD1 - - - HGNC - 14234 - - - OMIM - 606681 - - - Reactome - Q96L73 - - - SwissProt - Q96L73 - - - - - 5q35.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 22177091[PMID]_23865096[PMID]_24214728[PMID] - - enhancer of zeste 2 polycomb repressive complex 2 subunit - EZH2 - - ENX-1 - EZH1 - KMT6 - KMT6A - - - gene with protein product - - - - IUPHAR - 2654 - - - Ensembl - ENSG00000106462 - - - Genatlas - EZH2 - - - HGNC - 3527 - - - OMIM - 601573 - - - Reactome - Q15910 - - - SwissProt - Q15910 - - - ClinVar - EZH2 - - - - - 7q36.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28229514[PMID] - - SUZ12 polycomb repressive complex 2 subunit - SUZ12 - - JJAZ1 - KIAA0160 - CHET9 - - - gene with protein product - - - - ClinVar - SUZ12 - - - Ensembl - ENSG00000178691 - - - Genatlas - SUZ12 - - - HGNC - 17101 - - - OMIM - 606245 - - - Reactome - Q15022 - - - SwissProt - Q15022 - - - - - 17q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 1422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1422 - Chondrodysplasia-difference of sex development syndrome - - Malformation syndrome - - - Disorder - - - - 24784881[PMID] - - hedgehog acyltransferase - HHAT - - FLJ10724 - GUP2 - MART-2 - MART2 - Skn - rasp - sit - ski - protein-cysteine N-palmitoyltransferase HHAT - - - gene with protein product - - - - ClinVar - HHAT - - - Ensembl - ENSG00000054392 - - - Genatlas - HHAT - - - HGNC - 18270 - - - OMIM - 605743 - - - Reactome - Q5VTY9 - - - SwissProt - Q5VTY9 - - - - - 1q32.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 178469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178469 - Autosomal dominant non-syndromic intellectual disability - - Etiological subtype - - - Subtype of disorder - - - - 33754465[PMID] - - potassium voltage-gated channel subfamily Q member 2 - KCNQ2 - - BFNC - ENB1 - HNSPC - KCNA11 - Kv7.2 - - - gene with protein product - - - - ClinVar - KCNQ2 - - - Ensembl - ENSG00000075043 - - - Genatlas - KCNQ2 - - - HGNC - 6296 - - - IUPHAR - 561 - - - OMIM - 602235 - - - Reactome - O43526 - - - SwissProt - O43526 - - - - - 20q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33603162[PMID] - - erb-b2 receptor tyrosine kinase 4 - ERBB4 - - ALS19 - HER4 - human epidermal growth factor receptor 4 - - - gene with protein product - - - - ClinVar - ERBB4 - - - Ensembl - ENSG00000178568 - - - Genatlas - ERBB4 - - - HGNC - 3432 - - - IUPHAR - 1799 - - - OMIM - 600543 - - - Reactome - Q15303 - - - SwissProt - Q15303 - - - - - 2q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30879638[PMID] - - BR serine/threonine kinase 2 - BRSK2 - - brain selective kinase 2 - SAD-A - PEN11B - serine/threonine kinase 29 - - - gene with protein product - - - - HGNC - 11405 - - - Ensembl - ENSG00000174672 - - - SwissProt - Q8IWQ3 - - - Reactome - Q8IWQ3 - - - IUPHAR - 1947 - - - OMIM - 609236 - - - - - 11p15.5 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 31155615[PMID] - - mediator complex subunit 12L - MED12L - - KIAA1635 - TNRC11L - TRALPUSH - TRALP - - - gene with protein product - - - - HGNC - 16050 - - - Ensembl - ENSG00000144893 - - - SwissProt - Q86YW9 - - - Reactome - Q86YW9 - - - OMIM - 611318 - - - - - 3q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34006619[PMID] - - solute carrier family 6 member 1 - SLC6A1 - - GABA transporter 1 - GABATHG - GABATR - GAT1 - GAT-1 - hGAT-1 - Sodium- and chloride-dependent GABA transporter 1 - - - gene with protein product - - - - Ensembl - ENSG00000157103 - - - Genatlas - SLC6A1 - - - HGNC - 11042 - - - IUPHAR - 929 - - - OMIM - 137165 - - - Reactome - P30531 - - - SwissProt - P30531 - - - ClinVar - SLC6A1 - - - - - 3p25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32546566[PMID] - - SET domain containing 1B, histone lysine methyltransferase - SETD1B - - KMT2G - KIAA1076 - Set1B - - - gene with protein product - - - - HGNC - 29187 - - - OMIM - 611055 - - - Ensembl - ENSG00000139718 - - - IUPHAR - 2701 - - - SwissProt - Q9UPS6 - - - Reactome - Q9UPS6 - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29100083[PMID] - - clathrin heavy chain - CLTC - - Hc - - - gene with protein product - - - - ClinVar - CLTC - - - Ensembl - ENSG00000141367 - - - Genatlas - CLTC - - - HGNC - 2092 - - - OMIM - 118955 - - - Reactome - Q00610 - - - SwissProt - Q00610 - - - - - 17q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34707297[PMID] - - intersectin 1 - ITSN1 - - SH3P17 - MGC134948 - MGC134949 - SH3 domain protein-1A - human intersectin-SH3 domain-containing protein SH3P17 - Src homology 3 domain-containing protein - - - gene with protein product - - - - HGNC - 6183 - - - Ensembl - ENSG00000205726 - - - SwissProt - Q15811 - - - Reactome - Q15811 - - - OMIM - 602442 - - - - - 21q22.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34092786[PMID] - - prickle planar cell polarity protein 2 - PRICKLE2 - - DKFZp686D143 - - - gene with protein product - - - - Ensembl - ENSG00000163637 - - - Genatlas - PRICKLE2 - - - HGNC - 20340 - - - OMIM - 608501 - - - SwissProt - Q7Z3G6 - - - ClinVar - PRICKLE2 - - - - - 3p14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26153216[PMID]_27003583[PMID] - - HIVEP zinc finger 2 - HIVEP2 - - MIBP1 - HIV-EP2 - ZAS2 - ZNF40B - MBP-2 - Schnurri-2 - c-myc intron binding protein 1 - - - gene with protein product - - - - HGNC - 4921 - - - Genatlas - HIVEP2 - - - ClinVar - HIVEP2 - - - Ensembl - ENSG00000010818 - - - SwissProt - P31629 - - - OMIM - 143054 - - - - - 6q24.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24307393[PMID] - - lysine demethylase 5B - KDM5B - - RBBP2H1A - PLU-1 - PPP1R98 - CT31 - protein phosphatase 1, regulatory subunit 98 - cancer/testis antigen 31 - - - gene with protein product - - - - HGNC - 18039 - - - ClinVar - KDM5B - - - OMIM - 605393 - - - Ensembl - ENSG00000117139 - - - Reactome - Q9UGL1 - - - IUPHAR - 2681 - - - SwissProt - Q9UGL1 - - - Genatlas - KDM5B - - - - - 1q32.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 36103875[PMID] - - gamma-aminobutyric acid type B receptor subunit 1 - GABBR1 - - hGB1a - GPRC3A - GABA-B receptor - - - gene with protein product - - - - HGNC - 4070 - - - Ensembl - ENSG00000204681 - - - SwissProt - Q9UBS5 - - - Reactome - Q9UBS5 - - - IUPHAR - 240 - - - OMIM - 603540 - - - - - 6p22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35861646[PMID] - - dihydropyrimidinase like 2 - DPYSL2 - - DHPRP2 - DRP-2 - DRP2 - CRMP2 - - - gene with protein product - - - - HGNC - 3014 - - - Ensembl - ENSG00000092964 - - - OMIM - 602463 - - - SwissProt - Q16555 - - - - - 8p21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29688601[PMID] - - SET nuclear proto-oncogene - SET - - Template-Activating Factor-I, chromatin remodelling factor - 2PP2A - IPP2A2 - PHAPII - protein phosphatase type 2A inhibitor - IGAAD - TAF-I - TAF-IBETA - Template-Activating Factor-I - chromatin remodelling factor - HLA-DR-associated protein II - inhibitor of granzyme A-activated DNase - - - gene with protein product - - - - HGNC - 10760 - - - Ensembl - ENSG00000119335 - - - SwissProt - Q01105 - - - OMIM - 600960 - - - Genatlas - SET - - - Reactome - Q01105 - - - ClinVar - SET - - - - - 9q34.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34346499[PMID] - - ARF GTPase 3 - ARF3 - - small GTP binding protein - - - gene with protein product - - - - HGNC - 654 - - - Ensembl - ENSG00000134287 - - - OMIM - 103190 - - - SwissProt - P61204 - - - - - 12q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33704440[PMID] - - calcium voltage-gated channel subunit alpha1 I - CACNA1I - - Voltage-gated calcium channel subunit alpha Cav3.3 - Voltage-dependent T-type calcium channel subunit alpha-1I - Cav3.3 - - - gene with protein product - - - - SwissProt - Q9P0X4 - - - Ensembl - ENSG00000100346 - - - OMIM - 608230 - - - IUPHAR - 537 - - - HGNC - 1396 - - - - - 22q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29100083[PMID] - - RAB11A, member RAS oncogene family - RAB11A - - YL8 - - - gene with protein product - - - - HGNC - 9760 - - - Ensembl - ENSG00000103769 - - - ClinVar - RAB11A - - - SwissProt - P62491 - - - OMIM - 605570 - - - Genatlas - RAB11A - - - Reactome - P62491 - - - - - 15q22.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28942967[PMID] - - protein phosphatase 3 catalytic subunit alpha - PPP3CA - - calcineurin A alpha - CNA1 - PPP2B - protein phosphatase 2B, catalytic subunit, alpha isoform - - - gene with protein product - - - - ClinVar - PPP3CA - - - HGNC - 9314 - - - SwissProt - Q08209 - - - Ensembl - ENSG00000138814 - - - OMIM - 114105 - - - Genatlas - PPP3CA - - - Reactome - Q08209 - - - - - 4q24 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28628100[PMID] - - glutamate ionotropic receptor AMPA type subunit 1 - GRIA1 - - GluA1 - GLURA - AMPA receptor subunit GluA1 - Glutamate receptor 1 - - - gene with protein product - - - - HGNC - 4571 - - - Ensembl - ENSG00000155511 - - - SwissProt - P42261 - - - Reactome - P42261 - - - IUPHAR - 444 - - - OMIM - 138248 - - - - - 5q33.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28669405[PMID] - - potassium voltage-gated channel subfamily Q member 5 - KCNQ5 - - Kv7.5 - - - gene with protein product - - - - HGNC - 6299 - - - ClinVar - KCNQ5 - - - Ensembl - ENSG00000185760 - - - IUPHAR - 564 - - - OMIM - 607357 - - - Reactome - Q9NR82 - - - SwissProt - Q9NR82 - - - Genatlas - KCNQ5 - - - - - 6q13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31353024[PMID] - - delta like canonical Notch ligand 1 - DLL1 - - - - gene with protein product - - - - ClinVar - DLL1 - - - Ensembl - ENSG00000198719 - - - Genatlas - DLL1 - - - HGNC - 2908 - - - OMIM - 606582 - - - Reactome - O00548 - - - SwissProt - O00548 - - - - - 6q27 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16236810[PMID] - - sodium voltage-gated channel alpha subunit 8 - SCN8A - - CIAT - CerIII - NaCh6 - Nav1.6 - PN4 - - - gene with protein product - - - - Ensembl - ENSG00000196876 - - - Genatlas - SCN8A - - - HGNC - 10596 - - - IUPHAR - 583 - - - OMIM - 600702 - - - Reactome - Q9UQD0 - - - SwissProt - Q9UQD0 - - - ClinVar - SCN8A - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31230721[PMID] - - TAO kinase 1 - TAOK1 - - thousand and one amino acid protein kinase 1 - hKFC-B - hTAOK1 - prostate-derived sterile 20-like kinase 2 - MARK kinase - KIAA1361 - MARKK - PSK2 - MAP3K16 - FLJ14314 - TAO1 - - - gene with protein product - - - - Ensembl - ENSG00000160551 - - - SwissProt - Q7L7X3 - - - Reactome - Q7L7X3 - - - IUPHAR - 2233 - - - OMIM - 610266 - - - HGNC - 29259 - - - - - 17q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 31278393[PMID] - - transient receptor potential cation channel subfamily M member 3 - TRPM3 - - KIAA1616 - LTRPC3 - GON-2 - melastatin 2 - - - gene with protein product - - - - HGNC - 17992 - - - Ensembl - ENSG00000083067 - - - SwissProt - Q9HCF6 - - - Reactome - Q9HCF6 - - - IUPHAR - 495 - - - OMIM - 608961 - - - - - 9q21.12-q21.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30269351[PMID] - - neurobeachin - NBEA - - KIAA1544 - BCL8B - FLJ10197 - LYST2 - - - gene with protein product - - - - HGNC - 7648 - - - Ensembl - ENSG00000172915 - - - SwissProt - Q8NFP9 - - - Reactome - Q8NFP9 - - - OMIM - 604889 - - - - - 13q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28288114[PMID] - - capicua transcriptional repressor - CIC - - KIAA0306 - - - gene with protein product - - - - HGNC - 14214 - - - Ensembl - ENSG00000079432 - - - SwissProt - Q96RK0 - - - OMIM - 612082 - - - Genatlas - CIC - - - Reactome - Q96RK0 - - - ClinVar - CIC - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 28585349[PMID] - - casein kinase 2 beta - CSNK2B - - Ckb1 - Ckb2 - - - gene with protein product - - - - HGNC - 2460 - - - Ensembl - ENSG00000204435 - - - SwissProt - P67870 - - - OMIM - 115441 - - - Genatlas - CSNK2B - - - Reactome - P67870 - - - IUPHAR - 1551 - - - ClinVar - CSNK2B - - - - - 6p21.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23033978[PMID]_28394464[PMID] - - ASH1 like histone lysine methyltransferase - ASH1L - - ASH1 - ASH1L1 - huASH1 - KMT2H - - - gene with protein product - - - - ClinVar - ASH1L - - - HGNC - 19088 - - - Ensembl - ENSG00000116539 - - - SwissProt - Q9NR48 - - - OMIM - 607999 - - - Genatlas - ASH1L - - - Reactome - Q9NR48 - - - IUPHAR - 2648 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35604360[PMID] - - semaphorin 6B - SEMA6B - - SEM-SEMA-Z - Sema VIb - SEMA-VIB - semaphorin VIB - semaphorin Z - semaZ - - - gene with protein product - - - - ClinVar - SEMA6B - - - HGNC - 10739 - - - Ensembl - ENSG00000167680 - - - SwissProt - Q9H3T3 - - - OMIM - 608873 - - - Genatlas - SEMA6B - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30014507[PMID] - - cut like homeobox 1 - CUX1 - - CASP - CUX - CDP1 - Cux/CDP - CUT - CDP - CDP/Cut - Clox - CDP/Cux - GOLIM6 - golgi integral membrane protein 6 - CUX1 gene Alternatively Spliced Product - - - gene with protein product - - - - Genatlas - CUX1 - - - HGNC - 2557 - - - OMIM - 116896 - - - SwissProt - P39880 - - - Reactome - P39880 - - - Ensembl - ENSG00000257923 - - - ClinVar - CUX1 - - - - - 7q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 36001342[PMID] - - tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta - YWHAZ - - 14-3-3-zeta - 14-3-3 delta - 14-3-3 zeta - KCIP-1 - - - gene with protein product - - - - HGNC - 12855 - - - Ensembl - ENSG00000164924 - - - OMIM - 601288 - - - SwissProt - P63104 - - - - - 8q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22670824[PMID] - - transcription factor 4 - TCF4 - - E2-2 - ITF2 - SEF2-1B - bHLHb19 - class B basic helix-loop-helix protein 19 - immunoglobulin transcription factor 2 - SL3-3 enhancer factor 2 - - - gene with protein product - - - - ClinVar - TCF4 - - - Ensembl - ENSG00000196628 - - - Genatlas - TCF4 - - - HGNC - 11634 - - - OMIM - 602272 - - - Reactome - P15884 - - - SwissProt - P15884 - - - - - 18q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33718894[PMID] - - catenin delta 2 - CTNND2 - - GT24 - NPRAP - neural plakophilin-related arm-repeat protein - neurojungin - - - gene with protein product - - - - Ensembl - ENSG00000169862 - - - Genatlas - CTNND2 - - - HGNC - 2516 - - - OMIM - 604275 - - - SwissProt - Q9UQB3 - - - ClinVar - CTNND2 - - - - - 5p15.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19012874[PMID] - - kirre like nephrin family adhesion molecule 3 - KIRREL3 - - KIAA1867 - KIRRE - NEPH2 - - - gene with protein product - - - - Ensembl - ENSG00000149571 - - - Genatlas - KIRREL3 - - - HGNC - 23204 - - - OMIM - 607761 - - - Reactome - Q8IZU9 - - - SwissProt - Q8IZU9 - - - ClinVar - KIRREL3 - - - - - 11q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18060736[PMID] - - dedicator of cytokinesis 8 - DOCK8 - - FLJ00026 - FLJ00152 - FLJ00346 - ZIR8 - - - gene with protein product - - - - Ensembl - ENSG00000107099 - - - Genatlas - DOCK8 - - - HGNC - 19191 - - - OMIM - 611432 - - - Reactome - Q8NF50 - - - SwissProt - Q8NF50 - - - ClinVar - DOCK8 - - - - - 9p24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23422940[PMID] - - methyl-CpG binding domain protein 5 - MBD5 - - FLJ11113 - KIAA1461 - - - gene with protein product - - - - Ensembl - ENSG00000204406 - - - Genatlas - MBD5 - - - HGNC - 20444 - - - OMIM - 611472 - - - SwissProt - Q9P267 - - - ClinVar - MBD5 - - - Reactome - Q9P267 - - - - - 2q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20890276[PMID] - - glutamate ionotropic receptor NMDA type subunit 2B - GRIN2B - - GluN2B - NR2B - - - gene with protein product - - - - Ensembl - ENSG00000273079 - - - Genatlas - GRIN2B - - - HGNC - 4586 - - - IUPHAR - 457 - - - OMIM - 138252 - - - Reactome - Q13224 - - - SwissProt - Q13224 - - - ClinVar - GRIN2B - - - - - 12p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19012874[PMID] - - cadherin 15 - CDH15 - - - - gene with protein product - - - - Ensembl - ENSG00000129910 - - - Genatlas - CDH15 - - - HGNC - 1754 - - - OMIM - 114019 - - - Reactome - P55291 - - - SwissProt - P55291 - - - ClinVar - CDH15 - - - - - 16q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21376300[PMID] - - kinesin family member 1A - KIF1A - - UNC104 - - - gene with protein product - - - - Reactome - Q12756 - - - Ensembl - ENSG00000130294 - - - Genatlas - KIF1A - - - HGNC - 888 - - - OMIM - 601255 - - - SwissProt - Q12756 - - - ClinVar - KIF1A - - - - - 2q37.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21376300[PMID] - - glutamate ionotropic receptor NMDA type subunit 1 - GRIN1 - - GluN1 - NR1 - - - gene with protein product - - - - Ensembl - ENSG00000176884 - - - Genatlas - GRIN1 - - - HGNC - 4584 - - - IUPHAR - 455 - - - OMIM - 138249 - - - Reactome - Q05586 - - - SwissProt - Q05586 - - - ClinVar - GRIN1 - - - - - 9q34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22368300[PMID] - - dynein cytoplasmic 1 heavy chain 1 - DYNC1H1 - - CMT2O - DHC1 - Dnchc1 - HL-3 - p22 - - - gene with protein product - - - - Ensembl - ENSG00000197102 - - - Genatlas - DYNC1H1 - - - HGNC - 2961 - - - OMIM - 600112 - - - Reactome - Q14204 - - - SwissProt - Q14204 - - - ClinVar - DYNC1H1 - - - - - 14q32.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21376300[PMID] - - calcium voltage-gated channel auxiliary subunit gamma 2 - CACNG2 - - MGC138502 - MGC138504 - Stargazin - stargazin - - - gene with protein product - - - - Ensembl - ENSG00000166862 - - - Genatlas - CACNG2 - - - HGNC - 1406 - - - OMIM - 602911 - - - Reactome - Q9Y698 - - - SwissProt - Q9Y698 - - - ClinVar - CACNG2 - - - - - 22q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21376300[PMID] - - erythrocyte membrane protein band 4.1 like 1 - EPB41L1 - - 4.1N - KIAA0338 - - - gene with protein product - - - - Ensembl - ENSG00000088367 - - - Genatlas - EPB41L1 - - - HGNC - 3378 - - - OMIM - 602879 - - - Reactome - Q9H4G0 - - - SwissProt - Q9H4G0 - - - ClinVar - EPB41L1 - - - - - 20q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24726472[PMID] - - DEAF1 transcription factor - DEAF1 - - NUDR - SPN - ZMYND5 - - - gene with protein product - - - - ClinVar - DEAF1 - - - Ensembl - ENSG00000177030 - - - Genatlas - DEAF1 - - - HGNC - 14677 - - - OMIM - 602635 - - - SwissProt - O75398 - - - Reactome - O75398 - - - - - 11p15.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24697219[PMID] - - eukaryotic translation elongation factor 1 alpha 2 - EEF1A2 - - EEF1AL - HS1 - - - gene with protein product - - - - Ensembl - ENSG00000101210 - - - Genatlas - EEF1A2 - - - HGNC - 3192 - - - OMIM - 602959 - - - Reactome - Q05639 - - - SwissProt - Q05639 - - - ClinVar - EEF1A2 - - - - - 20q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29100089[PMID] - - calcium/calmodulin dependent protein kinase II alpha - CAMK2A - - calcium/calmodulin-dependent protein kinase II alpha-B subunit - calcium/calmodulin-dependent protein kinase type II alpha chain - CaM kinase II alpha subunit - CaM-kinase II alpha chain - CaMK-II alpha subunit - CaMKIINalpha - KIAA0968 - CaMKIIa - - - gene with protein product - - - - ClinVar - CAMK2A - - - HGNC - 1460 - - - Ensembl - ENSG00000070808 - - - SwissProt - Q9UQM7 - - - OMIM - 114078 - - - Genatlas - CAMK2A - - - Reactome - Q9UQM7 - - - IUPHAR - 1555 - - - - - 5q32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29100089[PMID] - - calcium/calmodulin dependent protein kinase II beta - CAMK2B - - calcium/calmodulin-dependent protein kinase type II beta chain - CaM kinase II beta subunit - CaM-kinase II beta chain - CAM2 - CAMK2 - proline rich calmodulin-dependent protein kinase - CaMKIIß - - - gene with protein product - - - - ClinVar - CAMK2B - - - HGNC - 1461 - - - Ensembl - ENSG00000058404 - - - SwissProt - Q13554 - - - OMIM - 607707 - - - Genatlas - CAMK2B - - - Reactome - Q13554 - - - IUPHAR - 1556 - - - - - 7p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 178461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178461 - X-linked myopathy with postural muscle atrophy - - Disease - - - Disorder - - - - 18179888[PMID] - - four and a half LIM domains 1 - FHL1 - - FHL1B - FLH1A - Four-and-a-half LIM domains 1 - KYO-T - LIM protein SLIMMER - MGC111107 - SLIM1 - XMPMA - bA535K18.1 - - - gene with protein product - - - - Ensembl - ENSG00000022267 - - - Genatlas - FHL1 - - - HGNC - 3702 - - - OMIM - 300163 - - - SwissProt - Q13642 - - - ClinVar - FHL1 - - - Reactome - Q13642 - - - - - Xq26.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 178464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178464 - Hereditary myopathy with early respiratory failure - - Disease - - - Disorder - - - - 24575448[PMID] - - titin - TTN - - CMH9 - CMPD4 - FLJ32040 - LGMD2J - MYLK5 - TMD - - - gene with protein product - - - - Reactome - Q8WZ42 - - - SwissProt - Q8WZ42 - - - ClinVar - TTN - - - Ensembl - ENSG00000155657 - - - Genatlas - TTN - - - HGNC - 12403 - - - IUPHAR - 2265 - - - OMIM - 188840 - - - - - 2q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 178396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178396 - Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation - - Disease - - - Disorder - - - - 19483159[PMID] - - serpin family A member 1 - SERPINA1 - - A1A - A1AT - AAT - PI1 - alpha-1-antitrypsin - alpha1AT - protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin - alpha-1 antitrypsin - anti-elastase - protease inhibitor 1 - alpha-1 proteinase inhibitor - - - gene with protein product - - - - ClinVar - SERPINA1 - - - Ensembl - ENSG00000197249 - - - Genatlas - SERPINA1 - - - HGNC - 8941 - - - OMIM - 107400 - - - Reactome - P01009 - - - SwissProt - P01009 - - - - - 14q32.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 178400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178400 - Distal myopathy with anterior tibial onset - - Disease - - - Disorder - - - - 19493611[PMID] - - dysferlin - DYSF - - FER1L1 - fer-1-like family member 1 - - - gene with protein product - - - - Ensembl - ENSG00000135636 - - - Genatlas - DYSF - - - HGNC - 3097 - - - OMIM - 603009 - - - Reactome - O75923 - - - SwissProt - O75923 - - - ClinVar - DYSF - - - - - 2p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 178389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178389 - Osteopetrosis-hypogammaglobulinemia syndrome - - Disease - - - Disorder - - - - 18606301[PMID] - - TNF receptor superfamily member 11a - TNFRSF11A - - CD265 - FEO - RANK - osteoclast differentiation factor receptor - ODFR - receptor activator of nuclear factor kappa B - TRANCE-R - TRANCE receptor - familial expansile osteolysis - - - gene with protein product - - - - IUPHAR - 1881 - - - Ensembl - ENSG00000141655 - - - Genatlas - TNFRSF11A - - - HGNC - 11908 - - - OMIM - 603499 - - - Reactome - Q9Y6Q6 - - - SwissProt - Q9Y6Q6 - - - ClinVar - TNFRSF11A - - - - - 18q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 62 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=62 - Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 - - Disease - - - Disorder - - - - 19798725[PMID]_21856579[PMID]_20301582[PMID] - - sarcoglycan alpha - SGCA - - 50kD DAG - A2 - DMDA2 - LGMD2D - SCARMD1 - adhalin - limb girdle muscular dystrophy 2D - - - gene with protein product - - - - ClinVar - SGCA - - - Ensembl - ENSG00000108823 - - - Genatlas - SGCA - - - HGNC - 10805 - - - OMIM - 600119 - - - SwissProt - Q16586 - - - - - 17q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 178364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178364 - Syndromic microphthalmia type 5 - - Malformation syndrome - - - Disorder - - - - 15846561[PMID]_20396904[PMID] - - orthodenticle homeobox 2 - OTX2 - - - - gene with protein product - - - - SwissProt - P32243 - - - Ensembl - ENSG00000165588 - - - Genatlas - OTX2 - - - HGNC - 8522 - - - OMIM - 600037 - - - ClinVar - OTX2 - - - - - 14q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715 - Glycogen storage disease due to muscle phosphorylase kinase deficiency - - Disease - - - Disorder - - - - - - phosphorylase kinase regulatory subunit alpha 1 - PHKA1 - - - - gene with protein product - - - - ClinVar - PHKA1 - - - Reactome - P46020 - - - SwissProt - P46020 - - - Ensembl - ENSG00000067177 - - - Genatlas - PHKA1 - - - HGNC - 8925 - - - OMIM - 311870 - - - - - Xq13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - phosphorylase kinase catalytic subunit gamma 1 - PHKG1 - - - - gene with protein product - - - - IUPHAR - 2145 - - - OMIM - 172470 - - - Reactome - Q16816 - - - SwissProt - Q16816 - - - Ensembl - ENSG00000164776 - - - Genatlas - PHKG1 - - - HGNC - 8930 - - - ClinVar - PHKG1 - - - - - 7p11.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 178377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178377 - Osteosclerosis-developmental delay-craniosynostosis syndrome - - Malformation syndrome - - - Disorder - - - - 15940380[PMID] - - LDL receptor related protein 5 - LRP5 - - BMND1 - EVR4 - HBM - LR3 - OPS - OPTA1 - VBCH2 - - - gene with protein product - - - - ClinVar - LRP5 - - - Ensembl - ENSG00000162337 - - - Genatlas - LRP5 - - - HGNC - 6697 - - - OMIM - 603506 - - - Reactome - O75197 - - - SwissProt - O75197 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=348 - Fructose-1,6-bisphosphatase deficiency - - Disease - - - Disorder - - - - 9382095[PMID]_12126934[PMID]_24007283[PMID] - - fructose-bisphosphatase 1 - FBP1 - - - - gene with protein product - - - - ClinVar - FBP1 - - - Genatlas - FBP1 - - - HGNC - 3606 - - - OMIM - 611570 - - - Reactome - P09467 - - - SwissProt - P09467 - - - Ensembl - ENSG00000165140 - - - - - 9q22.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 178345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178345 - Aromatase excess syndrome - - Disease - - - Disorder - - - - 21470988[PMID]_22319526[PMID]_24064691[PMID] - - cytochrome P450 family 19 subfamily A member 1 - CYP19A1 - - ARO - ARO1 - CPV1 - CYAR - P-450AROM - aromatase - - - gene with protein product - - - - ClinVar - CYP19A1 - - - OMIM - 107910 - - - Reactome - P11511 - - - SwissProt - P11511 - - - Ensembl - ENSG00000137869 - - - Genatlas - CYP19A1 - - - HGNC - 2594 - - - IUPHAR - 1362 - - - - - 15q21.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 178355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178355 - Smith-McCort dysplasia - - Disease - - - Disorder - - - - 15464420[PMID]_12491225[PMID] - - dymeclin - DYM - - DMC - FLJ20071 - SMC - - - gene with protein product - - - - Ensembl - ENSG00000141627 - - - Genatlas - DYM - - - HGNC - 21317 - - - OMIM - 607461 - - - SwissProt - Q7RTS9 - - - ClinVar - DYM - - - - - 18q21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22652534[PMID] - - RAB33B, member RAS oncogene family - RAB33B - - DKFZP434G099 - - - gene with protein product - - - - Ensembl - ENSG00000172007 - - - Genatlas - RAB33B - - - HGNC - 16075 - - - OMIM - 605950 - - - SwissProt - Q9H082 - - - ClinVar - RAB33B - - - Reactome - Q9H082 - - - - - 4q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 178338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178338 - UV-sensitive syndrome - - Disease - - - Disorder - - - - 15486090[PMID] - - ERCC excision repair 6, chromatin remodeling factor - ERCC6 - - ARMD5 - CSB - Cockayne syndrome B protein - RAD26 - - - gene with protein product - - - - ClinVar - ERCC6 - - - Ensembl - ENSG00000225830 - - - Genatlas - ERCC6 - - - HGNC - 3438 - - - OMIM - 609413 - - - Reactome - Q03468 - - - SwissProt - Q03468 - - - - - 10q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19329487[PMID] - - ERCC excision repair 8, CSA ubiquitin ligase complex subunit - ERCC8 - - CSA - - - gene with protein product - - - - Ensembl - ENSG00000049167 - - - Genatlas - ERCC8 - - - HGNC - 3439 - - - OMIM - 609412 - - - Reactome - Q13216 - - - SwissProt - Q13216 - - - ClinVar - ERCC8 - - - - - 5q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22466610[PMID]_22466611[PMID]_22466612[PMID] - - UV stimulated scaffold protein A - UVSSA - - - - gene with protein product - - - - ClinVar - UVSSA - - - Ensembl - ENSG00000163945 - - - Genatlas - UVSSA - - - HGNC - 29304 - - - OMIM - 614632 - - - Reactome - Q2YD98 - - - SwissProt - Q2YD98 - - - - - 4p16.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 178342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178342 - Inflammatory myofibroblastic tumor - - Disease - - - Disorder - - - - 17063337[PMID] - - tropomyosin 3 - TPM3 - - TRK - - - gene with protein product - - - - OMIM - 191030 - - - Reactome - P06753 - - - SwissProt - P06753 - - - Ensembl - ENSG00000143549 - - - Genatlas - TPM3 - - - HGNC - 12012 - - - ClinVar - TPM3 - - - - - 1q21.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 17063337[PMID] - - ALK receptor tyrosine kinase - ALK - - ALK1 - CD246 - - - gene with protein product - - - - Reactome - Q9UM73 - - - ClinVar - ALK - - - Ensembl - ENSG00000171094 - - - Genatlas - ALK - - - HGNC - 427 - - - IUPHAR - 1839 - - - OMIM - 105590 - - - SwissProt - Q9UM73 - - - - - 2p23.2-p23.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 12661011[PMID] - - RAN binding protein 2 - RANBP2 - - nucleoporin 358 - ADANE - NUP358 - - - gene with protein product - - - - ClinVar - RANBP2 - - - Ensembl - ENSG00000153201 - - - Genatlas - RANBP2 - - - HGNC - 9848 - - - OMIM - 601181 - - - Reactome - P49792 - - - SwissProt - P49792 - - - - - 2q13 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 17656252[PMID] - - clathrin heavy chain - CLTC - - Hc - - - gene with protein product - - - - ClinVar - CLTC - - - Ensembl - ENSG00000141367 - - - Genatlas - CLTC - - - HGNC - 2092 - - - OMIM - 118955 - - - Reactome - Q00610 - - - SwissProt - Q00610 - - - - - 17q23.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 13679433[PMID]_12112524[PMID] - - cysteinyl-tRNA synthetase 1 - CARS1 - - cysteine tRNA ligase 1, cytoplasmic - CARS1 - Cysteine tRNA ligase 1, cytoplasmic - - - gene with protein product - - - - Ensembl - ENSG00000110619 - - - Genatlas - CARS - - - HGNC - 1493 - - - OMIM - 123859 - - - Reactome - P49589 - - - SwissProt - P49589 - - - ClinVar - CARS - - - - - 11p15.4 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 10934142[PMID] - - tropomyosin 4 - TPM4 - - - - gene with protein product - - - - Ensembl - ENSG00000167460 - - - Genatlas - TPM4 - - - HGNC - 12013 - - - OMIM - 600317 - - - Reactome - P67936 - - - SwissProt - P67936 - - - ClinVar - TPM4 - - - - - 19p13.12-p13.11 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117 - Behçet disease - - Disease - - - Disorder - - - - 20622878[PMID]_26015771[PMID] - - interleukin 10 - IL10 - - CSIF - IL-10 - IL10A - T-cell growth inhibitory factor - TGIF - cytokine synthesis inhibitory factor - - - gene with protein product - - - - ClinVar - IL10 - - - Reactome - P22301 - - - Ensembl - ENSG00000136634 - - - Genatlas - IL10 - - - HGNC - 5962 - - - OMIM - 124092 - - - SwissProt - P22301 - - - - - 1q32.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 20622878[PMID] - - major histocompatibility complex, class I, B - HLA-B - - - - gene with protein product - - - - ClinVar - HLA-B - - - Ensembl - ENSG00000234745 - - - Genatlas - HLA-B - - - HGNC - 4932 - - - OMIM - 142830 - - - SwissProt - P01889 - - - Reactome - P30486 - - - - - 6p21.33 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 26136352[PMID] - - Fas cell surface death receptor - FAS - - APO-1 - CD95 - TNF receptor superfamily member 6 - - - gene with protein product - - - - ClinVar - FAS - - - IUPHAR - 1875 - - - Ensembl - ENSG00000026103 - - - Genatlas - FAS - - - HGNC - 11920 - - - OMIM - 134637 - - - Reactome - P25445 - - - SwissProt - P25445 - - - - - 10q23.31 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 21918955[PMID]_22455605[PMID] - - UBA domain containing 2 - UBAC2 - - FLJ30548 - RP11-178C10.1 - - - gene with protein product - - - - Ensembl - ENSG00000134882 - - - Genatlas - UBAC2 - - - HGNC - 20486 - - - SwissProt - Q8NBM4 - - - OMIM - - - - ClinVar - UBAC2 - - - - - 13q32.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23633568[PMID] - - interleukin 23 receptor - IL23R - - IL-23R - - - gene with protein product - - - - Reactome - Q5VWK5 - - - ClinVar - IL23R - - - Ensembl - ENSG00000162594 - - - Genatlas - IL23R - - - HGNC - 19100 - - - OMIM - 607562 - - - SwissProt - Q5VWK5 - - - IUPHAR - 1717 - - - - - 1p31.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23633568[PMID] - - MEFV innate immunity regulator, pyrin - MEFV - - FMF - TRIM20 - marenostrin - - - gene with protein product - - - - Ensembl - ENSG00000103313 - - - Genatlas - MEFV - - - HGNC - 6998 - - - OMIM - 608107 - - - Reactome - O15553 - - - SwissProt - O15553 - - - ClinVar - MEFV - - - - - 16p13.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23001997[PMID]_26097239[PMID] - - signal transducer and activator of transcription 4 - STAT4 - - - - gene with protein product - - - - Ensembl - ENSG00000138378 - - - Genatlas - STAT4 - - - HGNC - 11365 - - - OMIM - 600558 - - - SwissProt - Q14765 - - - Reactome - Q14765 - - - ClinVar - STAT4 - - - - - 2q32.2-q32.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23918728[PMID] - - complement C4A (Chido/Rodgers blood group) - C4A - - C4 - C4A2 - C4A3 - C4A4 - C4A6 - C4B - C4S - CO4 - CPAMD2 - RG - - - gene with protein product - - - - ClinVar - C4A - - - Ensembl - ENSG00000244731 - - - Genatlas - C4A - - - HGNC - 1323 - - - OMIM - 120810 - - - Reactome - P0C0L4 - - - SwissProt - P0C0L4 - - - - - 6p21.33 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 25799145[PMID] - - interleukin 12A - IL12A - - CLMF - IL-12, subunit p35 - IL-12A - IL35 subunit - NF cell stimulatory factor chain 1 - NFSK - cytotoxic lymphocyte maturation factor 1, p35 - interleukin 12, p35 - interleukin-12 alpha chain - natural killer cell stimulatory factor 1, 35 kD subunit - p35 - - - gene with protein product - - - - ClinVar - IL12A - - - Ensembl - ENSG00000168811 - - - Genatlas - IL12A - - - HGNC - 5969 - - - OMIM - 161560 - - - Reactome - P29459 - - - SwissProt - P29459 - - - - - 3q25.33 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23633568[PMID] - - toll like receptor 4 - TLR4 - - hToll - ARMD10 - CD284 - TLR-4 - - - gene with protein product - - - - IUPHAR - 1754 - - - ClinVar - TLR4 - - - Ensembl - ENSG00000136869 - - - Genatlas - TLR4 - - - HGNC - 11850 - - - OMIM - 603030 - - - Reactome - O00206 - - - SwissProt - O00206 - - - - - 9q33.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 26097239[PMID] - - C-C motif chemokine receptor 1 - CCR1 - - CD191 - CKR-1 - MIP1aR - - - gene with protein product - - - - IUPHAR - 58 - - - OMIM - 601159 - - - Reactome - P32246 - - - SwissProt - P32246 - - - Ensembl - ENSG00000163823 - - - Genatlas - CCR1 - - - HGNC - 1602 - - - ClinVar - CCR1 - - - - - 3p21.31 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 26097239[PMID] - - killer cell lectin like receptor C4 - KLRC4 - - NKG2-F - - - gene with protein product - - - - Ensembl - ENSG00000183542 - - - Genatlas - KLRC4 - - - HGNC - 6377 - - - OMIM - 602893 - - - SwissProt - O43908 - - - ClinVar - KLRC4 - - - - - 12p13.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 26097239[PMID] - - IL12A antisense RNA 1 - IL12A-AS1 - - ILAS1-AS1 - - - Non-coding RNA - - - - Ensembl - ENSG00000244040 - - - HGNC - 49094 - - - OMIM - - - - SwissProt - - - - - - 3q25.33 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 26097239[PMID] - - endoplasmic reticulum aminopeptidase 1 - ERAP1 - - puromycin-insensitive leucyl-specific aminopeptidase - A-LAP - ARTS-1 - ERAAP1 - KIAA0525 - PILS-AP - adipocyte-derived leucine aminopeptidase - aminopeptidase regulator of TNFR1 shedding - - - gene with protein product - - - - Ensembl - ENSG00000164307 - - - Genatlas - ERAP1 - - - HGNC - 18173 - - - IUPHAR - 1566 - - - OMIM - 606832 - - - Reactome - Q9NZ08 - - - SwissProt - Q9NZ08 - - - ClinVar - ERAP1 - - - - - 5q15 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 33393726[PMID] - - interferon gamma receptor 1 - IFNGR1 - - CD119 - - - gene with protein product - - - - ClinVar - IFNGR1 - - - IUPHAR - 1725 - - - Ensembl - ENSG00000027697 - - - Genatlas - IFNGR1 - - - HGNC - 5439 - - - OMIM - 107470 - - - Reactome - P15260 - - - SwissProt - P15260 - - - - - 6q23.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 178509 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178509 - Perry syndrome - - Disease - - - Disorder - - - - - - dynactin subunit 1 - DCTN1 - - p150 glued homolog (Drosophila) - - - gene with protein product - - - - Ensembl - ENSG00000204843 - - - Genatlas - DCTN1 - - - HGNC - 2711 - - - OMIM - 601143 - - - Reactome - Q14203 - - - SwissProt - Q14203 - - - ClinVar - DCTN1 - - - - - 2p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 178506 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178506 - Brain calcification, Rajab type - - Disease - - - Disorder - - - - 30014610[PMID] - - phenylalanyl-tRNA synthetase subunit beta - FARSB - - PheHB - FRSB - phenylalanine tRNA ligase 1, beta, cytoplasmic - - - gene with protein product - - - - HGNC - 17800 - - - Ensembl - ENSG00000116120 - - - SwissProt - Q9NSD9 - - - Reactome - Q9NSD9 - - - OMIM - 609690 - - - - - 2q36.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 177926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177926 - Bleeding disorder in hemophilia A carriers - - Clinical subtype - - - Subtype of disorder - - - - 20301578[PMID]_25611311[PMID]_19302446[PMID] - - coagulation factor VIII - F8 - - DXS1253E - FVIII - Factor VIIIF8B - HEMA - hemophilia A - - - gene with protein product - - - - ClinVar - F8 - - - Ensembl - ENSG00000185010 - - - Genatlas - F8 - - - HGNC - 3546 - - - IUPHAR - 2607 - - - OMIM - 300841 - - - Reactome - P00451 - - - SwissProt - P00451 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 177929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177929 - Bleeding disorder in hemophilia B carriers - - Clinical subtype - - - Subtype of disorder - - - - - - coagulation factor IX - F9 - - Christmas disease - FIX - Factor IX - hemophilia B - plasma thromboplastic component - - - gene with protein product - - - - ClinVar - F9 - - - Ensembl - ENSG00000101981 - - - Genatlas - F9 - - - HGNC - 3551 - - - IUPHAR - 2364 - - - OMIM - 300746 - - - Reactome - P00740 - - - SwissProt - P00740 - - - - - Xq27.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 177901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901 - Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 - - Etiological subtype - - - Subtype of disorder - - - - 20301505[PMID]_22495932[PMID]_28296064[PMID] - - small nucleolar RNA, C/D box 115 cluster - SNORD115@ - - HBII-52 - - - Non-coding RNA - - - - SwissProt - - - - Genatlas - SNORD115@ - - - HGNC - 32780 - - - OMIM - 609837 - - - Ensembl - - - - ClinVar - SNORD115@ - - - - - 15q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 20301505[PMID] - - small nuclear ribonucleoprotein polypeptide N - SNRPN - - HCERN3 - RT-LI - SM protein N - SM-D - SMN - SNRNP-N - SNURF-SNRPN - small nuclear ribonucleoprotein N - tissue-specific splicing protein - - - gene with protein product - - - - Reactome - P63162 - - - Ensembl - ENSG00000128739 - - - Genatlas - SNRPN - - - HGNC - 11164 - - - OMIM - 182279 - - - SwissProt - P63162 - - - ClinVar - SNRPN - - - - - 15q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 20301505[PMID] - - MAGE family member L2 - MAGEL2 - - nM15 - - - gene with protein product - - - - Reactome - Q9UJ55 - - - ClinVar - MAGEL2 - - - Ensembl - ENSG00000254585 - - - Genatlas - MAGEL2 - - - HGNC - 6814 - - - OMIM - 605283 - - - SwissProt - Q9UJ55 - - - - - 15q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 20301505[PMID] - - necdin, MAGE family member - NDN - - HsT16328 - PWCR - Prader-Willi syndrome chromosome region - - - gene with protein product - - - - Reactome - Q99608 - - - ClinVar - NDN - - - Ensembl - ENSG00000182636 - - - Genatlas - NDN - - - HGNC - 7675 - - - OMIM - 602117 - - - SwissProt - Q99608 - - - - - 15q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 20301505[PMID] - - OCA2 melanosomal transmembrane protein - OCA2 - - BEY - BEY1 - BEY2 - EYCL - P-protein - melanocyte-specific transporter protein - SLC13B1 - - - gene with protein product - - - - Reactome - Q04671 - - - ClinVar - OCA2 - - - Ensembl - ENSG00000104044 - - - Genatlas - OCA2 - - - HGNC - 8101 - - - OMIM - 611409 - - - SwissProt - Q04671 - - - - - 15q12-q13.1 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 20301505[PMID]_20588305[PMID]_22694955[PMID] - - small nucleolar RNA, C/D box 116 cluster - SNORD116@ - - HBII-85 - PET1 - - - Non-coding RNA - - - - Ensembl - - - - SwissProt - - - - ClinVar - SNORD116@ - - - Genatlas - SNORD116@ - - - HGNC - 32781 - - - OMIM - 605436 - - - - - 15q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 423 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423 - Malignant hyperthermia of anesthesia - - Disease - - - Disorder - - - - 9175745[PMID]_9199552[PMID]_20301325[PMID] - - calcium voltage-gated channel subunit alpha1 S - CACNA1S - - Cav1.1 - hypoPP - - - gene with protein product - - - - Ensembl - ENSG00000081248 - - - Genatlas - CACNA1S - - - HGNC - 1397 - - - IUPHAR - 528 - - - OMIM - 114208 - - - Reactome - Q13698 - - - SwissProt - Q13698 - - - ClinVar - CACNA1S - - - - - 1q32.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 20301325[PMID] - - ryanodine receptor 1 - RYR1 - - PPP1R137 - RYR - protein phosphatase 1, regulatory subunit 137 - - - gene with protein product - - - - ClinVar - RYR1 - - - Ensembl - ENSG00000196218 - - - Genatlas - RYR1 - - - HGNC - 10483 - - - IUPHAR - 747 - - - OMIM - 180901 - - - Reactome - P21817 - - - SwissProt - P21817 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 177904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177904 - Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 - - Etiological subtype - - - Subtype of disorder - - - - 20301505[PMID]_22495932[PMID]_28296064[PMID] - - small nucleolar RNA, C/D box 115 cluster - SNORD115@ - - HBII-52 - - - Non-coding RNA - - - - SwissProt - - - - Genatlas - SNORD115@ - - - HGNC - 32780 - - - OMIM - 609837 - - - Ensembl - - - - ClinVar - SNORD115@ - - - - - 15q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 20301505[PMID] - - small nuclear ribonucleoprotein polypeptide N - SNRPN - - HCERN3 - RT-LI - SM protein N - SM-D - SMN - SNRNP-N - SNURF-SNRPN - small nuclear ribonucleoprotein N - tissue-specific splicing protein - - - gene with protein product - - - - Reactome - P63162 - - - Ensembl - ENSG00000128739 - - - Genatlas - SNRPN - - - HGNC - 11164 - - - OMIM - 182279 - - - SwissProt - P63162 - - - ClinVar - SNRPN - - - - - 15q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 20301505[PMID] - - MAGE family member L2 - MAGEL2 - - nM15 - - - gene with protein product - - - - Reactome - Q9UJ55 - - - ClinVar - MAGEL2 - - - Ensembl - ENSG00000254585 - - - Genatlas - MAGEL2 - - - HGNC - 6814 - - - OMIM - 605283 - - - SwissProt - Q9UJ55 - - - - - 15q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 20301505[PMID] - - necdin, MAGE family member - NDN - - HsT16328 - PWCR - Prader-Willi syndrome chromosome region - - - gene with protein product - - - - Reactome - Q99608 - - - ClinVar - NDN - - - Ensembl - ENSG00000182636 - - - Genatlas - NDN - - - HGNC - 7675 - - - OMIM - 602117 - - - SwissProt - Q99608 - - - - - 15q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 20301505[PMID] - - OCA2 melanosomal transmembrane protein - OCA2 - - BEY - BEY1 - BEY2 - EYCL - P-protein - melanocyte-specific transporter protein - SLC13B1 - - - gene with protein product - - - - Reactome - Q04671 - - - ClinVar - OCA2 - - - Ensembl - ENSG00000104044 - - - Genatlas - OCA2 - - - HGNC - 8101 - - - OMIM - 611409 - - - SwissProt - Q04671 - - - - - 15q12-q13.1 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 20301505[PMID]_20588305[PMID]_22694955[PMID] - - small nucleolar RNA, C/D box 116 cluster - SNORD116@ - - HBII-85 - PET1 - - - Non-coding RNA - - - - Ensembl - - - - SwissProt - - - - ClinVar - SNORD116@ - - - Genatlas - SNORD116@ - - - HGNC - 32781 - - - OMIM - 605436 - - - - - 15q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 177907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177907 - Prader-Willi syndrome due to translocation - - Etiological subtype - - - Subtype of disorder - - - - 11159938[PMID]_12154412[PMID]_8845846[PMID] - - small nuclear ribonucleoprotein polypeptide N - SNRPN - - HCERN3 - RT-LI - SM protein N - SM-D - SMN - SNRNP-N - SNURF-SNRPN - small nuclear ribonucleoprotein N - tissue-specific splicing protein - - - gene with protein product - - - - Reactome - P63162 - - - Ensembl - ENSG00000128739 - - - Genatlas - SNRPN - - - HGNC - 11164 - - - OMIM - 182279 - - - SwissProt - P63162 - - - ClinVar - SNRPN - - - - - 15q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 177910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177910 - Prader-Willi syndrome due to imprinting mutation - - Etiological subtype - - - Subtype of disorder - - - - 22495932[PMID]_20301505[PMID]_28296064[PMID] - - small nucleolar RNA, C/D box 115 cluster - SNORD115@ - - HBII-52 - - - Non-coding RNA - - - - SwissProt - - - - Genatlas - SNORD115@ - - - HGNC - 32780 - - - OMIM - 609837 - - - Ensembl - - - - ClinVar - SNORD115@ - - - - - 15q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 9634532[PMID] - - small nuclear ribonucleoprotein polypeptide N - SNRPN - - HCERN3 - RT-LI - SM protein N - SM-D - SMN - SNRNP-N - SNURF-SNRPN - small nuclear ribonucleoprotein N - tissue-specific splicing protein - - - gene with protein product - - - - Reactome - P63162 - - - Ensembl - ENSG00000128739 - - - Genatlas - SNRPN - - - HGNC - 11164 - - - OMIM - 182279 - - - SwissProt - P63162 - - - ClinVar - SNRPN - - - - - 15q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 20301505[PMID] - - MAGE family member L2 - MAGEL2 - - nM15 - - - gene with protein product - - - - Reactome - Q9UJ55 - - - ClinVar - MAGEL2 - - - Ensembl - ENSG00000254585 - - - Genatlas - MAGEL2 - - - HGNC - 6814 - - - OMIM - 605283 - - - SwissProt - Q9UJ55 - - - - - 15q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 24039599[PMID] - - necdin, MAGE family member - NDN - - HsT16328 - PWCR - Prader-Willi syndrome chromosome region - - - gene with protein product - - - - Reactome - Q99608 - - - ClinVar - NDN - - - Ensembl - ENSG00000182636 - - - Genatlas - NDN - - - HGNC - 7675 - - - OMIM - 602117 - - - SwissProt - Q99608 - - - - - 15q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 22495932[PMID] - - small nucleolar RNA, C/D box 116 cluster - SNORD116@ - - HBII-85 - PET1 - - - Non-coding RNA - - - - Ensembl - - - - SwissProt - - - - ClinVar - SNORD116@ - - - Genatlas - SNORD116@ - - - HGNC - 32781 - - - OMIM - 605436 - - - - - 15q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=388 - Hirschsprung disease - - Disease - - - Disorder - - - - 33151932[PMID] - - ATPase copper transporting alpha - ATP7A - - copper pump 1 - copper-transporting ATPase 1 - - - gene with protein product - - - - IUPHAR - 852 - - - Ensembl - ENSG00000165240 - - - Genatlas - ATP7A - - - HGNC - 869 - - - OMIM - 300011 - - - Reactome - Q04656 - - - SwissProt - Q04656 - - - ClinVar - ATP7A - - - - - Xq21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33151932[PMID] - - ATP binding cassette subfamily D member 1 - ABCD1 - - ALDP - AMN - adrenoleukodystrophy - - - gene with protein product - - - - IUPHAR - 788 - - - ClinVar - ABCD1 - - - Ensembl - ENSG00000101986 - - - Genatlas - ABCD1 - - - HGNC - 61 - - - OMIM - 300371 - - - Reactome - P33897 - - - SwissProt - P33897 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33497358[PMID] - - erb-b2 receptor tyrosine kinase 2 - ERBB2 - - HER2 - NEU - HER-2 - CD340 - neuro/glioblastoma derived oncogene homolog - human epidermal growth factor receptor 2 - metastatic lymph node gene 19 - c-ERB-2 - p185(erbB2) - MLN-19 - c-ERB2 - - - gene with protein product - - - - SwissProt - P04626 - - - ClinVar - ERBB2 - - - OMIM - 164870 - - - IUPHAR - 2019 - - - Ensembl - ENSG00000141736 - - - Genatlas - ERBB2 - - - HGNC - 3430 - - - - - 17q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33497358[PMID] - - erb-b2 receptor tyrosine kinase 3 - ERBB3 - - HER3 - human epidermal growth factor receptor 3 - - - gene with protein product - - - - IUPHAR - 1798 - - - OMIM - 190151 - - - Reactome - P21860 - - - SwissProt - P21860 - - - ClinVar - ERBB3 - - - Ensembl - ENSG00000065361 - - - Genatlas - ERBB3 - - - HGNC - 3431 - - - - - 12q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32413283[PMID] - - smoothened, frizzled class receptor - SMO - - frizzled family member 11 - FZD11 - - - gene with protein product - - - - HGNC - 11119 - - - OMIM - 601500 - - - Genatlas - SMO - - - SwissProt - Q99835 - - - Reactome - Q99835 - - - Ensembl - ENSG00000128602 - - - IUPHAR - 239 - - - ClinVar - SMO - - - - - 7q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31609069[PMID] - - ret proto-oncogene - RET - - CDHF12 - CDHR16 - PTC - RET receptor tyrosine kinase - RET51 - cadherin-related family member 16 - rearranged during transfection - - - gene with protein product - - - - ClinVar - RET - - - Ensembl - ENSG00000165731 - - - Genatlas - RET - - - HGNC - 9967 - - - IUPHAR - 2185 - - - OMIM - 164761 - - - SwissProt - P07949 - - - Reactome - P07949 - - - - - 10q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301612[PMID] - - endothelin converting enzyme 1 - ECE1 - - - - gene with protein product - - - - Ensembl - ENSG00000117298 - - - Genatlas - ECE1 - - - HGNC - 3146 - - - IUPHAR - 1615 - - - OMIM - 600423 - - - SwissProt - P42892 - - - Reactome - P42892 - - - ClinVar - ECE1 - - - - - 1p36.12 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 20301612[PMID] - - endothelin 3 - EDN3 - - ET3 - - - gene with protein product - - - - Ensembl - ENSG00000124205 - - - Genatlas - EDN3 - - - HGNC - 3178 - - - OMIM - 131242 - - - Reactome - P14138 - - - SwissProt - P14138 - - - ClinVar - EDN3 - - - - - 20q13.32 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 20301612[PMID] - - endothelin receptor type B - EDNRB - - ETB - - - gene with protein product - - - - Reactome - P24530 - - - SwissProt - P24530 - - - Ensembl - ENSG00000136160 - - - Genatlas - EDNRB - - - HGNC - 3180 - - - IUPHAR - 220 - - - OMIM - 131244 - - - ClinVar - EDNRB - - - - - 13q22.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 20301612[PMID] - - glial cell derived neurotrophic factor - GDNF - - ATF1 - ATF2 - HFB1-GDNF - astrocyte-derived trophic factor - glial cell line derived neurotrophic factor - glial derived neurotrophic factor - - - gene with protein product - - - - ClinVar - GDNF - - - Ensembl - ENSG00000168621 - - - Genatlas - GDNF - - - HGNC - 4232 - - - OMIM - 600837 - - - Reactome - P39905 - - - SwissProt - P39905 - - - - - 5p13.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 20301612[PMID] - - neurturin - NRTN - - NTN - prepro-neurturin - - - gene with protein product - - - - ClinVar - NRTN - - - Ensembl - ENSG00000171119 - - - Genatlas - NRTN - - - HGNC - 8007 - - - OMIM - 602018 - - - Reactome - Q99748 - - - SwissProt - Q99748 - - - - - 19p13.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 25839327[PMID] - - semaphorin 3C - SEMA3C - - SemE - - - gene with protein product - - - - ClinVar - SEMA3C - - - Ensembl - ENSG00000075223 - - - Genatlas - SEMA3C - - - HGNC - 10725 - - - OMIM - 602645 - - - SwissProt - Q99985 - - - - - 7q21.11 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 25839327[PMID] - - semaphorin 3D - SEMA3D - - Sema-Z2 - coll-2 - - - gene with protein product - - - - HGNC - 10726 - - - OMIM - 609907 - - - SwissProt - O95025 - - - Ensembl - ENSG00000153993 - - - Genatlas - SEMA3D - - - ClinVar - SEMA3D - - - - - 7q21.11 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 33151932[PMID] - - sterol regulatory element binding transcription factor 1 - SREBF1 - - SREBP1 - SREBP1a - SREBP-1c - bHLHd1 - Sterol regulatory element-binding protein 1 - - - gene with protein product - - - - OMIM - 184756 - - - SwissProt - P36956 - - - HGNC - 11289 - - - Ensembl - ENSG00000072310 - - - - - 17p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 178333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178333 - Åland Islands eye disease - - Disease - - - Disorder - - - - 17525176[PMID] - - calcium voltage-gated channel subunit alpha1 F - CACNA1F - - CORDX3 - CSNB2A - CSNBX2 - Cav1.4 - JM8 - JMC8 - OA2 - - - gene with protein product - - - - Genatlas - CACNA1F - - - HGNC - 1393 - - - IUPHAR - 531 - - - OMIM - 300110 - - - Reactome - O60840 - - - SwissProt - O60840 - - - Ensembl - ENSG00000102001 - - - ClinVar - CACNA1F - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=760 - Purine nucleoside phosphorylase deficiency - - Disease - - - Disorder - - - - 11453975[PMID] - - purine nucleoside phosphorylase - PNP - - PUNP - - - gene with protein product - - - - Ensembl - ENSG00000198805 - - - Genatlas - NP - - - HGNC - 7892 - - - OMIM - 164050 - - - Reactome - P00491 - - - SwissProt - P00491 - - - IUPHAR - 2841 - - - ClinVar - NP - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=270 - Oculopharyngeal muscular dystrophy - - Disease - - - Disorder - - - - 20301305[PMID] - - poly(A) binding protein nuclear 1 - PABPN1 - - PAB2 - - - gene with protein product - - - - Ensembl - ENSG00000100836 - - - Genatlas - PABPN1 - - - HGNC - 8565 - - - OMIM - 602279 - - - Reactome - Q86U42 - - - SwissProt - Q86U42 - - - ClinVar - PABPN1 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244 - Primary ciliary dyskinesia - - Disease - - - Disorder - - - - 32185794[PMID]_32950024[PMID] - - NME/NM23 family member 5 - NME5 - - nm23-H5 - non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase) - radial spoke 23 homolog (Chlamydomonas) - RSPH23 - - - gene with protein product - - - - SwissProt - P56597 - - - HGNC - 7853 - - - OMIM - 603575 - - - Reactome - P56597 - - - Ensembl - ENSG00000112981 - - - - - 5q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25927852[PMID] - - dynein axonemal heavy chain 1 - DNAH1 - - DNAHC1 - HDHC7 - HL-11 - HL11 - XLHSRF-1 - - - gene with protein product - - - - Ensembl - ENSG00000114841 - - - Genatlas - DNAH1 - - - HGNC - 2940 - - - OMIM - 603332 - - - SwissProt - Q9P2D7 - - - ClinVar - DNAH1 - - - - - 3p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31820119[PMID] - - tetratricopeptide repeat domain 12 - TTC12 - - FLJ20535 - TPARM - FLJ13859 - tetratricopeptide repeat and armadillo repeat protein - - - gene with protein product - - - - HGNC - 23700 - - - Ensembl - ENSG00000149292 - - - SwissProt - Q9H892 - - - OMIM - 610732 - - - - - 11q23.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 31959991[PMID] - - NIMA related kinase 10 - NEK10 - - FLJ32685 - - - gene with protein product - - - - HGNC - 18592 - - - Ensembl - ENSG00000163491 - - - SwissProt - Q6ZWH5 - - - IUPHAR - 2115 - - - OMIM - 618726 - - - - - 3p24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28041644[PMID] - - PIH1 domain containing 3 - DNAAF6 - - MGC35261 - NYSAR97 - sarcoma antigen NY-SAR-97 - DNAAF6 - TWISTER - dynein axonemal assembly factor 6 - - - gene with protein product - - - - Reactome - Q9NQM4 - - - HGNC - 28570 - - - OMIM - 300933 - - - SwissProt - Q9NQM4 - - - Ensembl - ENSG00000080572 - - - Genatlas - PIH1D3 - - - ClinVar - PIH1D3 - - - - - Xq22.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 31636325[PMID] - - cilia and flagella associated protein 221 - CFAP221 - - FAP221 - PCDP1 - flagellar associated protein 221 homolog (Chlamydomonas) - primary ciliary dyskinesia 1 homolog (mouse) - - - gene with protein product - - - - OMIM - 618704 - - - Ensembl - ENSG00000163075 - - - SwissProt - Q4G0U5 - - - HGNC - 33720 - - - - - 2q14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31545650[PMID] - - sperm flagellar 2 - SPEF2 - - KPL2 - FLJ23577 - CT122 - cancer/testis antigen 122 - - - gene with protein product - - - - HGNC - 26293 - - - Ensembl - ENSG00000152582 - - - SwissProt - Q9C093 - - - OMIM - 610172 - - - - - 5p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27486783[PMID] - - DnaJ heat shock protein family (Hsp40) member B13 - DNAJB13 - - radial spoke 16 homolog A (Chlamydomonas) - RSPH16A - TSARG6 - - - gene with protein product - - - - ClinVar - DNAJB13 - - - Reactome - P59910 - - - HGNC - 30718 - - - OMIM - 610263 - - - Genatlas - DNAJB13 - - - SwissProt - P59910 - - - Ensembl - ENSG00000187726 - - - - - 11q13.4 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 27486780[PMID] - - outer dynein arm docking complex subunit 4 - ODAD4 - - DKFZP434H0115 - - - gene with protein product - - - - HGNC - 25280 - - - OMIM - 617095 - - - SwissProt - Q96NG3 - - - Ensembl - ENSG00000204815 - - - Genatlas - TTC25 - - - Reactome - Q96NG3 - - - ClinVar - TTC25 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25048963[PMID] - - multiciliate differentiation and DNA synthesis associated cell cycle protein - MCIDAS - - MCI - IDAS - multicilin - - - gene with protein product - - - - HGNC - 40050 - - - Reactome - D6RGH6 - - - Genatlas - MCIDAS - - - ClinVar - MCIDAS - - - OMIM - 614086 - - - Ensembl - ENSG00000234602 - - - SwissProt - D6RGH6 - - - - - 5q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 30649222[PMID] - - growth arrest specific 2 like 2 - GAS2L2 - - GAR17 - - - gene with protein product - - - - HGNC - 24846 - - - Ensembl - ENSG00000270765 - - - SwissProt - Q8NHY3 - - - Reactome - Q8NHY3 - - - OMIM - 611398 - - - - - 17q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - OFD1 centriole and centriolar satellite protein - OFD1 - - 71-7A - JBTS10 - Joubert syndrome type 10 - - - gene with protein product - - - - Ensembl - ENSG00000046651 - - - Genatlas - OFD1 - - - HGNC - 2567 - - - OMIM - 300170 - - - Reactome - O75665 - - - SwissProt - O75665 - - - ClinVar - OFD1 - - - - - Xp22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301301[PMID] - - dynein axonemal heavy chain 11 - DNAH11 - - CILD7 - DNAHBL - DNHBL - DPL11 - Dnahc11 - dynein, ciliary, heavy chain 11 - dynein, heavy chain beta-like - DNAHC11 - - - gene with protein product - - - - ClinVar - DNAH11 - - - Ensembl - ENSG00000105877 - - - Genatlas - DNAH11 - - - HGNC - 2942 - - - OMIM - 603339 - - - SwissProt - Q96DT5 - - - - - 7p15.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301301[PMID] - - dynein axonemal heavy chain 5 - DNAH5 - - CILD3 - Dnahc5 - HL1 - KTGNR - PCD - dynein heavy chain 5 - - - gene with protein product - - - - ClinVar - DNAH5 - - - Ensembl - ENSG00000039139 - - - Genatlas - DNAH5 - - - HGNC - 2950 - - - OMIM - 603335 - - - SwissProt - Q8TE73 - - - - - 5p15.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301301[PMID] - - dynein axonemal intermediate chain 1 - DNAI1 - - CILD1 - DIC1 - PCD - oda6 - - - gene with protein product - - - - ClinVar - DNAI1 - - - OMIM - 604366 - - - SwissProt - Q9UI46 - - - Ensembl - ENSG00000122735 - - - Genatlas - DNAI1 - - - HGNC - 2954 - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301301[PMID] - - NME/NM23 family member 8 - NME8 - - CILD6 - NM23-H8 - SPTRX2 - sperm-specific thioredoxin 2 - DNAI8 - - - gene with protein product - - - - Ensembl - ENSG00000086288 - - - Genatlas - NME8 - - - HGNC - 16473 - - - OMIM - 607421 - - - SwissProt - Q8N427 - - - ClinVar - NME8 - - - - - 7p14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301301[PMID] - - dynein axonemal intermediate chain 2 - DNAI2 - - CILD9 - DIC2 - dynein intermediate chain 2 - oda6 - - - gene with protein product - - - - Ensembl - ENSG00000171595 - - - Genatlas - DNAI2 - - - HGNC - 18744 - - - OMIM - 605483 - - - SwissProt - Q9GZS0 - - - ClinVar - DNAI2 - - - - - 17q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301301[PMID] - - dynein axonemal assembly factor 2 - DNAAF2 - - CILD10 - FLJ10563 - KTU - kintoun - pf13 - - - gene with protein product - - - - Ensembl - ENSG00000165506 - - - Genatlas - DNAAF2 - - - HGNC - 20188 - - - OMIM - 612517 - - - SwissProt - Q9NVR5 - - - ClinVar - DNAAF2 - - - Reactome - Q9NVR5 - - - - - 14q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301301[PMID] - - radial spoke head component 9 - RSPH9 - - CILD12 - FLJ30845 - - - gene with protein product - - - - Ensembl - ENSG00000172426 - - - Genatlas - RSPH9 - - - HGNC - 21057 - - - OMIM - 612648 - - - SwissProt - Q9H1X1 - - - ClinVar - RSPH9 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301301[PMID] - - radial spoke head component 4A - RSPH4A - - dJ412I7.1 - CILD11 - FLJ37974 - RSPH6B - - - gene with protein product - - - - SwissProt - Q5TD94 - - - Ensembl - ENSG00000111834 - - - Genatlas - RSPH4A - - - HGNC - 21558 - - - OMIM - 612647 - - - ClinVar - RSPH4A - - - - - 6q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301301[PMID] - - dynein axonemal assembly factor 1 - DNAAF1 - - FLJ25330 - ODA7 - outer row dynein assembly 7 homolog (Chlamydomonas) - swt - CILD13 - DAU1 - - - gene with protein product - - - - Reactome - Q8NEP3 - - - Ensembl - ENSG00000154099 - - - Genatlas - DNAAF1 - - - HGNC - 30539 - - - OMIM - 613190 - - - SwissProt - Q8NEP3 - - - ClinVar - DNAAF1 - - - - - 16q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301301[PMID] - - coiled-coil domain 39 molecular ruler complex subunit - CCDC39 - - CILD14 - DKFZp434A128 - FAP59 - CFAP59 - - - gene with protein product - - - - Ensembl - ENSG00000284862 - - - Genatlas - CCDC39 - - - HGNC - 25244 - - - OMIM - 613798 - - - SwissProt - Q9UFE4 - - - ClinVar - CCDC39 - - - - - 3q26.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301301[PMID] - - coiled-coil domain 40 molecular ruler complex subunit - CCDC40 - - CILD15 - FAP172 - FLJ20753 - FLJ32021 - KIAA1640 - CFAP172 - - - gene with protein product - - - - Ensembl - ENSG00000141519 - - - Genatlas - CCDC40 - - - HGNC - 26090 - - - OMIM - 613799 - - - SwissProt - Q4G0X9 - - - Reactome - Q4G0X9 - - - ClinVar - CCDC40 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301301[PMID] - - dynein axonemal light chain 1 - DNAL1 - - 1700010H15RiK - CILD16 - MGC12435 - - - gene with protein product - - - - ClinVar - DNAL1 - - - Ensembl - ENSG00000119661 - - - Genatlas - DNAL1 - - - HGNC - 23247 - - - OMIM - 610062 - - - SwissProt - Q4LDG9 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22387996[PMID]_20301301[PMID] - - dynein axonemal assembly factor 3 - DNAAF3 - - FLJ36139 - FLJ40069 - PCD - pf22 - - - gene with protein product - - - - Ensembl - ENSG00000167646 - - - Genatlas - DNAAF3 - - - HGNC - 30492 - - - OMIM - 614566 - - - SwissProt - Q8N9W5 - - - ClinVar - DNAAF3 - - - - - 19q13.42 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22581229[PMID]_20301301[PMID] - - dynein axonemal assembly factor 19 - DNAAF19 - - CILD17 - FLJ13094 - FLJ34211 - PR46b - - - gene with protein product - - - - Reactome - Q8IW40 - - - Ensembl - ENSG00000167131 - - - Genatlas - CCDC103 - - - HGNC - 32700 - - - ClinVar - CCDC103 - - - OMIM - 614677 - - - SwissProt - Q8IW40 - - - - - 17q21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23040496[PMID]_20301301[PMID] - - dynein axonemal assembly factor 5 - DNAAF5 - - CILD18 - FLJ20397 - FLJ25564 - FLJ31671 - FLJ39381 - - - gene with protein product - - - - Ensembl - ENSG00000164818 - - - Genatlas - HEATR2 - - - HGNC - 26013 - - - OMIM - 614864 - - - SwissProt - Q86Y56 - - - ClinVar - HEATR2 - - - - - 7p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23022101[PMID]_20301301[PMID] - - HYDIN axonemal central pair apparatus protein - HYDIN - - CILD5 - DKFZp434D0513 - KIAA1864 - PPP1R31 - protein phosphatase 1, regulatory subunit 31 - - - gene with protein product - - - - Ensembl - ENSG00000157423 - - - Genatlas - HYDIN - - - HGNC - 19368 - - - OMIM - 610812 - - - SwissProt - Q4G0P3 - - - ClinVar - HYDIN - - - - - 16q22.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23122589[PMID]_20301301[PMID] - - dynein axonemal assembly factor 11 - DNAAF11 - - CILD19 - LRTP - Leucine rich testes protein - TSLRP - leucine rich testes protein - seahorse - tilB - - - gene with protein product - - - - Genatlas - LRRC6 - - - HGNC - 16725 - - - OMIM - 614930 - - - SwissProt - Q86X45 - - - Ensembl - ENSG00000129295 - - - ClinVar - LRRC6 - - - - - 8q24.22 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23261303[PMID]_23261302[PMID] - - outer dynein arm docking complex subunit 1 - ODAD1 - - CILD20 - FLJ32926 - - - gene with protein product - - - - Ensembl - ENSG00000105479 - - - Genatlas - CCDC114 - - - HGNC - 26560 - - - OMIM - 615038 - - - SwissProt - Q96M63 - - - ClinVar - CCDC114 - - - Reactome - Q96M63 - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23354437[PMID] - - dynein regulatory complex subunit 1 - DRC1 - - CILD21 - FLJ32660 - MGC16372 - - - gene with protein product - - - - ClinVar - DRC1 - - - OMIM - 615288 - - - SwissProt - Q96MC2 - - - Ensembl - ENSG00000157856 - - - Genatlas - DRC1 - - - HGNC - 24245 - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23849778[PMID] - - outer dynein arm docking complex subunit 2 - ODAD2 - - gudu - CILD23 - DKFZP434P1735 - FLJ10376 - FLJ10817 - - - gene with protein product - - - - Ensembl - ENSG00000169126 - - - Genatlas - ARMC4 - - - HGNC - 25583 - - - OMIM - 615408 - - - SwissProt - Q5T2S8 - - - ClinVar - ARMC4 - - - - - 10p12.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23872636[PMID] - - dynein axonemal assembly factor 4 - DNAAF4 - - CILD25 - EKN1 - FLJ37882 - dynein, axonemal, assembly factor 4 - pf23 - - - gene with protein product - - - - Ensembl - ENSG00000256061 - - - Genatlas - DYX1C1 - - - HGNC - 21493 - - - OMIM - 608706 - - - SwissProt - Q8WXU2 - - - Reactome - Q8WXU2 - - - ClinVar - DYX1C1 - - - - - 15q21.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23993197[PMID] - - radial spoke head component 1 - RSPH1 - - RSP44 - RSPH10A - CILD24 - FLJ32753 - meichroacidin - - - gene with protein product - - - - Ensembl - ENSG00000160188 - - - Genatlas - RSPH1 - - - HGNC - 12371 - - - OMIM - 609314 - - - SwissProt - Q8WYR4 - - - ClinVar - RSPH1 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23891471[PMID]_23891469[PMID] - - zinc finger MYND-type containing 10 - ZMYND10 - - tumor suppressor BLU - BLU - CILD22 - Ciliary dyskinesia, primary, 22 - DNAAF7 - dynein axonemal assembly factor 7 - - - gene with protein product - - - - Ensembl - ENSG00000004838 - - - Genatlas - ZMYND10 - - - HGNC - 19412 - - - OMIM - 607070 - - - SwissProt - O75800 - - - Reactome - O75800 - - - ClinVar - ZMYND10 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24094744[PMID] - - cilia and flagella associated protein 298 - CFAP298 - - kurly homolog (zebrafish) - DNAAF16 - CILD26 - FBB18 - FLJ20467 - Kur - dynein axonemal assembly factor 16 - - - gene with protein product - - - - Ensembl - ENSG00000159079 - - - Genatlas - C21orf59 - - - HGNC - 1301 - - - OMIM - 615494 - - - SwissProt - P57076 - - - ClinVar - C21orf59 - - - - - 21q22.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24094744[PMID] - - dynein regulatory complex subunit 2 - DRC2 - - CFAP250 - CILD27 - DRC2 - FAP250 - FLJ35732 - NYD-SP28 - - - gene with protein product - - - - Ensembl - ENSG00000139537 - - - Genatlas - CCDC65 - - - HGNC - 29937 - - - OMIM - 611088 - - - SwissProt - Q8IXS2 - - - ClinVar - CCDC65 - - - - - 12q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24055112[PMID] - - sperm associated antigen 1 - SPAG1 - - CT140 - FLJ32920 - HSD-3.8 - SP75 - TPIS - dynein axonemal assembly factor 13 - CILD28 - DNAAF13 - - - gene with protein product - - - - Ensembl - ENSG00000104450 - - - Genatlas - SPAG1 - - - HGNC - 11212 - - - OMIM - 603395 - - - SwissProt - Q07617 - - - ClinVar - SPAG1 - - - - - 8q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24747639[PMID]_24824133[PMID] - - cyclin O - CCNO - - FLJ22422 - UDG2 - UNG2 - - - gene with protein product - - - - Ensembl - ENSG00000152669 - - - Genatlas - CCNO - - - HGNC - 18576 - - - OMIM - 607752 - - - Reactome - P22674 - - - SwissProt - P22674 - - - ClinVar - CCNO - - - - - 5q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25192045[PMID] - - outer dynein arm docking complex subunit 3 - ODAD3 - - MGC20983 - ODA10 - - - gene with protein product - - - - Ensembl - ENSG00000198003 - - - Genatlas - CCDC151 - - - HGNC - 28303 - - - OMIM - 615956 - - - SwissProt - A5D8V7 - - - ClinVar - CCDC151 - - - Reactome - A5D8V7 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 26073779[PMID] - - radial spoke head 3 - RSPH3 - - RSP3 - dJ111C20.1 - - - gene with protein product - - - - Reactome - Q86UC2 - - - ClinVar - RSPH3 - - - Ensembl - ENSG00000130363 - - - Genatlas - RSPH3 - - - HGNC - 21054 - - - OMIM - 615876 - - - SwissProt - Q86UC2 - - - - - 6q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26387594[PMID] - - dynein regulatory complex subunit 4 - DRC4 - - DRC4 - - - gene with protein product - - - - Ensembl - ENSG00000141013 - - - Genatlas - GAS8 - - - HGNC - 4166 - - - OMIM - 605178 - - - Reactome - O95995 - - - SwissProt - O95995 - - - ClinVar - GAS8 - - - - - 16q24.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - retinitis pigmentosa GTPase regulator - RPGR - - CORDX1 - - - gene with protein product - - - - Reactome - Q92834 - - - Ensembl - ENSG00000156313 - - - Genatlas - RPGR - - - HGNC - 10295 - - - OMIM - 312610 - - - SwissProt - Q92834 - - - ClinVar - RPGR - - - - - Xp11.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 36047773[PMID] - - cilia and flagella associated protein 74 - CFAP74 - - FLJ45476 - - - gene with protein product - - - - SwissProt - Q9C0B2 - - - HGNC - 29368 - - - Ensembl - ENSG00000142609 - - - OMIM - 620187 - - - - - 1p36.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28543983[PMID] - - serine/threonine kinase 36 - STK36 - - FU - fused homolog (Drosophila) - KIAA1278 - - - gene with protein product - - - - ClinVar - STK36 - - - HGNC - 17209 - - - Ensembl - ENSG00000163482 - - - SwissProt - Q9NRP7 - - - OMIM - 607652 - - - Genatlas - STK36 - - - Reactome - Q9NRP7 - - - IUPHAR - 2223 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 31630787[PMID] - - forkhead box J1 - FOXJ1 - - HFH4 - HFH-4 - - - gene with protein product - - - - Ensembl - ENSG00000129654 - - - SwissProt - Q92949 - - - Reactome - Q92949 - - - HGNC - 3816 - - - OMIM - 602291 - - - - - 17q25.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 30471717[PMID]_30471718[PMID] - - dynein axonemal heavy chain 9 - DNAH9 - - Dnahc9 - KIAA0357 - HL20 - HL-20 - DNAL1 - DYH9 - - - gene with protein product - - - - HGNC - 2953 - - - Ensembl - ENSG00000007174 - - - SwissProt - Q9NYC9 - - - OMIM - 603330 - - - - - 17p12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 30388400[PMID] - - leucine rich repeat containing 56 - LRRC56 - - DNAAF12 - dynein axonemal assembly factor 12 - oda8 - FLJ00101 - DKFZp761L1518 - - - gene with protein product - - - - HGNC - 25430 - - - Ensembl - ENSG00000161328 - - - SwissProt - Q8IYG6 - - - OMIM - 618227 - - - - - 11p15.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29727692[PMID]_29727693[PMID] - - cilia and flagella associated protein 300 - CFAP300 - - DNAAF17 - FBB5 - MGC13040 - dynein axonemal assembly factor 17 - - - gene with protein product - - - - ClinVar - CFAP300 - - - HGNC - 28188 - - - Ensembl - ENSG00000137691 - - - SwissProt - Q9BRQ4 - - - Genatlas - CFAP300 - - - OMIM - 618058 - - - - - 11q22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 178307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178307 - Reticulate acropigmentation of Kitamura - - Disease - - - Disorder - - - - 23666529[PMID] - - ADAM metallopeptidase domain 10 - ADAM10 - - CD156c - HsT18717 - MADM - kuz - CD156C - - - gene with protein product - - - - Ensembl - ENSG00000137845 - - - Genatlas - ADAM10 - - - HGNC - 188 - - - IUPHAR - 1658 - - - OMIM - 602192 - - - Reactome - O14672 - - - SwissProt - O14672 - - - ClinVar - ADAM10 - - - - - 15q21.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805 - Tuberous sclerosis complex - - Disease - - - Disorder - - - - 12192641[PMID] - - interferon gamma - IFNG - - - - gene with protein product - - - - ClinVar - IFNG - - - Ensembl - ENSG00000111537 - - - Genatlas - IFNG - - - HGNC - 5438 - - - OMIM - 147570 - - - Reactome - P01579 - - - SwissProt - P01579 - - - - - 12q15 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 20301399[PMID] - - TSC complex subunit 1 - TSC1 - - KIAA0243 - LAM - hamartin - - - gene with protein product - - - - ClinVar - TSC1 - - - Ensembl - ENSG00000165699 - - - Genatlas - TSC1 - - - HGNC - 12362 - - - OMIM - 605284 - - - Reactome - Q92574 - - - SwissProt - Q92574 - - - - - 9q34.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301399[PMID] - - TSC complex subunit 2 - TSC2 - - LAM - PPP1R160 - protein phosphatase 1, regulatory subunit 160 - tuberin - - - gene with protein product - - - - OMIM - 191092 - - - Reactome - P49815 - - - SwissProt - P49815 - - - ClinVar - TSC2 - - - Ensembl - ENSG00000103197 - - - Genatlas - TSC2 - - - HGNC - 12363 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 178145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178145 - Moderate multiminicore disease with hand involvement - - Clinical subtype - - - Subtype of disorder - - - - 20301467[PMID]_12112081[PMID] - - ryanodine receptor 1 - RYR1 - - PPP1R137 - RYR - protein phosphatase 1, regulatory subunit 137 - - - gene with protein product - - - - ClinVar - RYR1 - - - Ensembl - ENSG00000196218 - - - Genatlas - RYR1 - - - HGNC - 10483 - - - IUPHAR - 747 - - - OMIM - 180901 - - - Reactome - P21817 - - - SwissProt - P21817 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=791 - Retinitis pigmentosa - - Disease - - - Disorder - - - - 28794130[PMID] - - S-phase cyclin A associated protein in the ER - SCAPER - - Zfp291 - - - gene with protein product - - - - HGNC - 13081 - - - Ensembl - ENSG00000140386 - - - SwissProt - Q9BY12 - - - OMIM - 611611 - - - Genatlas - SCAPER - - - ClinVar - SCAPER - - - - - 15q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29978320[PMID] - - intraflagellar transport 88 - IFT88 - - D13S1056E - hTg737 - MGC26259 - polaris homolog - Tg737 - - - gene with protein product - - - - ClinVar - IFT88 - - - HGNC - 20606 - - - Ensembl - ENSG00000032742 - - - SwissProt - Q13099 - - - OMIM - 600595 - - - Genatlas - IFT88 - - - - - 13q12.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27889058[PMID] - - receptor accessory protein 6 - REEP6 - - deleted in polyposis 1-like 1 - DP1L1 - FLJ25383 - polyposis locus protein 1-like 1 - Yip2f - TB1 - - - gene with protein product - - - - ClinVar - REEP6 - - - Ensembl - ENSG00000115255 - - - HGNC - 30078 - - - OMIM - 609346 - - - Genatlas - REEP6 - - - SwissProt - Q96HR9 - - - Reactome - R-HSA-8939719 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 28132693[PMID] - - Rho/Rac guanine nucleotide exchange factor 18 - ARHGEF18 - - P114-RhoGEF - Rho-specific guanine nucleotide exchange factor p114 - KIAA0521 - MGC15913 - p114RhoGEF - - - gene with protein product - - - - HGNC - 17090 - - - Ensembl - ENSG00000104880 - - - SwissProt - Q6ZSZ5 - - - OMIM - 616432 - - - Genatlas - ARHGEF18 - - - Reactome - R-HSA-195104 - - - ClinVar - ARHGEF18 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33910932[PMID] - - Bardet-Biedl syndrome 1 - BBS1 - - FLJ23590 - - - gene with protein product - - - - ClinVar - BBS1 - - - Ensembl - ENSG00000174483 - - - Genatlas - BBS1 - - - HGNC - 966 - - - OMIM - 209901 - - - Reactome - Q8NFJ9 - - - SwissProt - Q8NFJ9 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30120214[PMID] - - KIAA1549 - KIAA1549 - - - - gene with protein product - - - - Reactome - Q9HCM3 - - - SwissProt - Q9HCM3 - - - ClinVar - KIAA1549 - - - Ensembl - ENSG00000122778 - - - Genatlas - KIAA1549 - - - HGNC - 22219 - - - OMIM - 613344 - - - - - 7q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 39191256[PMID] - - transmembrane protein 216 - TMEM216 - - HSPC244 - JBTS2 - MGC13379 - - - gene with protein product - - - - ClinVar - TMEM216 - - - Ensembl - ENSG00000187049 - - - Genatlas - TMEM216 - - - HGNC - 25018 - - - OMIM - 613277 - - - Reactome - Q9P0N5 - - - SwissProt - Q9P0N5 - - - - - 11q13.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 28973684[PMID] - - intraflagellar transport 43 - IFT43 - - FLJ32173 - MGC16028 - - - gene with protein product - - - - ClinVar - IFT43 - - - Ensembl - ENSG00000119650 - - - Genatlas - IFT43 - - - HGNC - 29669 - - - OMIM - 614068 - - - Reactome - Q96FT9 - - - SwissProt - Q96FT9 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28442540[PMID] - - Abelson helper integration site 1 - AHI1 - - FLJ20069 - JBTS3 - Jouberin - ORF1 - - - gene with protein product - - - - Ensembl - ENSG00000135541 - - - Genatlas - AHI1 - - - HGNC - 21575 - - - OMIM - 608894 - - - Reactome - Q8N157 - - - SwissProt - Q8N157 - - - ClinVar - AHI1 - - - - - 6q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26720455[PMID] - - AGBL carboxypeptidase 5 - AGBL5 - - CCP5 - cytosolic carboxypeptidase 5 - FLJ21839 - - - gene with protein product - - - - HGNC - 26147 - - - OMIM - 615900 - - - Genatlas - AGBL5 - - - SwissProt - Q8NDL9 - - - Ensembl - ENSG00000084693 - - - ClinVar - AGBL5 - - - Reactome - Q8NDL9 - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30267408[PMID] - - coiled-coil and C2 domain containing 2A - CC2D2A - - JBTS9 - KIAA1345 - MKS6 - Meckel syndrome, type 6 - - - gene with protein product - - - - ClinVar - CC2D2A - - - Reactome - Q9P2K1 - - - SwissProt - Q9P2K1 - - - Ensembl - ENSG00000048342 - - - Genatlas - CC2D2A - - - HGNC - 29253 - - - OMIM - 612013 - - - - - 4p15.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - ATP binding cassette subfamily A member 4 - ABCA4 - - ARMD2 - CORD3 - FFM - Stargardt disease - - - gene with protein product - - - - IUPHAR - 759 - - - Ensembl - ENSG00000198691 - - - Genatlas - ABCA4 - - - HGNC - 34 - - - OMIM - 601691 - - - Reactome - P78363 - - - SwissProt - P78363 - - - ClinVar - ABCA4 - - - - - 1p22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - photoreceptor disc component - PRCD - - RP36 - - - gene with protein product - - - - ClinVar - PRCD - - - Ensembl - ENSG00000214140 - - - Genatlas - PRCD - - - HGNC - 32528 - - - OMIM - 610598 - - - SwissProt - Q00LT1 - - - - - 17q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - pre-mRNA processing factor 3 - PRPF3 - - HPRP3 - Prp3 - SNRNP90 - hPrp3 - U4/U6 small nuclear ribonucleoprotein Prp3 - - - gene with protein product - - - - Ensembl - ENSG00000117360 - - - Genatlas - PRPF3 - - - HGNC - 17348 - - - OMIM - 607301 - - - Reactome - O43395 - - - SwissProt - O43395 - - - ClinVar - PRPF3 - - - - - 1q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - pre-mRNA processing factor 31 - PRPF31 - - NY-BR-99 - PRP31 - SNRNP61 - hPrp31 - U4/U6 small nuclear ribonucleoprotein Prp31 - - - gene with protein product - - - - ClinVar - PRPF31 - - - Ensembl - ENSG00000105618 - - - Genatlas - PRPF31 - - - HGNC - 15446 - - - OMIM - 606419 - - - Reactome - Q8WWY3 - - - SwissProt - Q8WWY3 - - - - - 19q13.42 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - pre-mRNA processing factor 8 - PRPF8 - - PRPC8 - Prp8 - SNRNP220 - hPrp8 - - - gene with protein product - - - - ClinVar - PRPF8 - - - SwissProt - Q6P2Q9 - - - Ensembl - ENSG00000174231 - - - Genatlas - PRPF8 - - - HGNC - 17340 - - - OMIM - 607300 - - - Reactome - Q6P2Q9 - - - - - 17p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - peripherin 2 - PRPH2 - - CACD2 - TSPAN22 - rd2 - retinal peripherin - tetraspanin-22 - choroidal dystrophy, central areolar 2 - - - gene with protein product - - - - ClinVar - PRPH2 - - - Ensembl - ENSG00000112619 - - - Genatlas - PRPH2 - - - HGNC - 9942 - - - OMIM - 179605 - - - SwissProt - P23942 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - retinol dehydrogenase 12 - RDH12 - - FLJ30273 - LCA13 - RP53 - SDR7C2 - short chain dehydrogenase/reductase family 7C, member 2 - - - gene with protein product - - - - ClinVar - RDH12 - - - Ensembl - ENSG00000139988 - - - Genatlas - RDH12 - - - HGNC - 19977 - - - OMIM - 608830 - - - Reactome - Q96NR8 - - - SwissProt - Q96NR8 - - - - - 14q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - retinal G protein coupled receptor - RGR - - RGR-opsin - RP44 - - - gene with protein product - - - - ClinVar - RGR - - - Ensembl - ENSG00000148604 - - - Genatlas - RGR - - - HGNC - 9990 - - - OMIM - 600342 - - - Reactome - P47804 - - - SwissProt - P47804 - - - - - 10q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - rhodopsin - RHO - - CSNBAD1 - OPN2 - opsin 2, rod pigment - - - gene with protein product - - - - ClinVar - RHO - - - Ensembl - ENSG00000163914 - - - Genatlas - RHO - - - HGNC - 10012 - - - OMIM - 180380 - - - Reactome - P08100 - - - SwissProt - P08100 - - - IUPHAR - 2963 - - - - - 3q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - retinaldehyde binding protein 1 - RLBP1 - - CRALBP - - - gene with protein product - - - - Ensembl - ENSG00000140522 - - - Genatlas - RLBP1 - - - HGNC - 10024 - - - OMIM - 180090 - - - Reactome - P12271 - - - SwissProt - P12271 - - - IUPHAR - 2545 - - - ClinVar - RLBP1 - - - - - 15q26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - retinal outer segment membrane protein 1 - ROM1 - - ROM - TSPAN23 - - - gene with protein product - - - - OMIM - 180721 - - - SwissProt - Q03395 - - - ClinVar - ROM1 - - - Ensembl - ENSG00000149489 - - - Genatlas - ROM1 - - - HGNC - 10254 - - - - - 11q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - RP1 axonemal microtubule associated - RP1 - - ORP1 - DCDC4A - doublecortin domain containing 4A - oxygen-regulated protein 1 - - - gene with protein product - - - - Ensembl - ENSG00000104237 - - - Genatlas - RP1 - - - HGNC - 10263 - - - OMIM - 603937 - - - ClinVar - RP1 - - - SwissProt - P56715 - - - - - 8q11.23-q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - RP2 activator of ARL3 GTPase - RP2 - - NM23-H10 - NME10 - TBCCD2 - - - gene with protein product - - - - ClinVar - RP2 - - - Ensembl - ENSG00000102218 - - - Genatlas - RP2 - - - HGNC - 10274 - - - OMIM - 300757 - - - Reactome - O75695 - - - SwissProt - O75695 - - - - - Xp11.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - RP9 pre-mRNA splicing factor - RP9 - - PAP-1 - Pim-1 kinase associated protein - - - gene with protein product - - - - Ensembl - ENSG00000164610 - - - Genatlas - RP9 - - - HGNC - 10288 - - - OMIM - 607331 - - - SwissProt - Q8TA86 - - - ClinVar - RP9 - - - Reactome - Q8TA86 - - - - - 7p14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - retinoid isomerohydrolase RPE65 - RPE65 - - BCO family, member 3 - BCO3 - LCA2 - all-trans-retinyl-palmitate hydrolase - rd12 - retinol isomerase - - - gene with protein product - - - - Ensembl - ENSG00000116745 - - - Genatlas - RPE65 - - - HGNC - 10294 - - - OMIM - 180069 - - - Reactome - Q16518 - - - SwissProt - Q16518 - - - ClinVar - RPE65 - - - - - 1p31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - retinitis pigmentosa GTPase regulator - RPGR - - CORDX1 - - - gene with protein product - - - - Reactome - Q92834 - - - Ensembl - ENSG00000156313 - - - Genatlas - RPGR - - - HGNC - 10295 - - - OMIM - 312610 - - - SwissProt - Q92834 - - - ClinVar - RPGR - - - - - Xp11.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - S-antigen visual arrestin - SAG - - rod arrestin - ARRESTIN - RP47 - arrestin 1 - - - gene with protein product - - - - ClinVar - SAG - - - Ensembl - ENSG00000130561 - - - Genatlas - SAG - - - HGNC - 10521 - - - OMIM - 181031 - - - Reactome - P10523 - - - SwissProt - P10523 - - - - - 2q37.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25541840[PMID] - - Bardet-Biedl syndrome 2 - BBS2 - - - - gene with protein product - - - - ClinVar - BBS2 - - - Ensembl - ENSG00000125124 - - - Genatlas - BBS2 - - - HGNC - 967 - - - OMIM - 606151 - - - Reactome - Q9BXC9 - - - SwissProt - Q9BXC9 - - - - - 16q13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - bestrophin 1 - BEST1 - - BEST - BMD - Best disease - RP50 - - - gene with protein product - - - - ClinVar - BEST1 - - - Ensembl - ENSG00000167995 - - - Genatlas - BEST1 - - - HGNC - 12703 - - - OMIM - 607854 - - - Reactome - O76090 - - - SwissProt - O76090 - - - - - 11q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - carbonic anhydrase 4 - CA4 - - CAIV - Car4 - - - gene with protein product - - - - Ensembl - ENSG00000167434 - - - Genatlas - CA4 - - - HGNC - 1375 - - - IUPHAR - 2599 - - - OMIM - 114760 - - - Reactome - P22748 - - - SwissProt - P22748 - - - ClinVar - CA4 - - - - - 17q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - CERK like autophagy regulator - CERKL - - - - gene with protein product - - - - ClinVar - CERKL - - - Ensembl - ENSG00000188452 - - - Genatlas - CERKL - - - HGNC - 21699 - - - OMIM - 608381 - - - SwissProt - Q49MI3 - - - - - 2q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - tetratricopeptide repeat domain 8 - TTC8 - - BBS8 - RP51 - - - gene with protein product - - - - Ensembl - ENSG00000165533 - - - Genatlas - TTC8 - - - HGNC - 20087 - - - ClinVar - TTC8 - - - OMIM - 608132 - - - Reactome - Q8TAM2 - - - SwissProt - Q8TAM2 - - - - - 14q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - TUB like protein 1 - TULP1 - - LCA15 - TUBL1 - - - gene with protein product - - - - Reactome - O00294 - - - Ensembl - ENSG00000112041 - - - Genatlas - TULP1 - - - HGNC - 12423 - - - OMIM - 602280 - - - SwissProt - O00294 - - - ClinVar - TULP1 - - - - - 6p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - usherin - USH2A - - RP39 - - - gene with protein product - - - - ClinVar - USH2A - - - HGNC - 12601 - - - OMIM - 608400 - - - SwissProt - O75445 - - - Ensembl - ENSG00000042781 - - - Genatlas - USH2A - - - - - 1q41 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - clarin 1 - CLRN1 - - - - gene with protein product - - - - ClinVar - CLRN1 - - - Ensembl - ENSG00000163646 - - - Genatlas - CLRN1 - - - HGNC - 12605 - - - OMIM - 606397 - - - SwissProt - P58418 - - - - - 3q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - cyclic nucleotide gated channel subunit alpha 1 - CNGA1 - - cGMP-gated cation channel alpha-1 - CNG1 - RCNC1 - RCNCa - RP49 - - - gene with protein product - - - - ClinVar - CNGA1 - - - Ensembl - ENSG00000198515 - - - Genatlas - CNGA1 - - - HGNC - 2148 - - - IUPHAR - 394 - - - OMIM - 123825 - - - Reactome - P29973 - - - SwissProt - P29973 - - - - - 4p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - crumbs cell polarity complex component 1 - CRB1 - - LCA8 - - - gene with protein product - - - - Ensembl - ENSG00000134376 - - - Genatlas - CRB1 - - - HGNC - 2343 - - - OMIM - 604210 - - - SwissProt - P82279 - - - Reactome - P82279 - - - ClinVar - CRB1 - - - - - 1q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - cone-rod homeobox - CRX - - CRD - LCA7 - OTX3 - orthodenticle homeobox 3 - - - gene with protein product - - - - Reactome - O43186 - - - ClinVar - CRX - - - Ensembl - ENSG00000105392 - - - Genatlas - CRX - - - HGNC - 2383 - - - OMIM - 602225 - - - SwissProt - O43186 - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - ARF like GTPase 6 - ARL6 - - RP55 - - - gene with protein product - - - - ClinVar - ARL6 - - - Ensembl - ENSG00000113966 - - - Genatlas - ARL6 - - - HGNC - 13210 - - - OMIM - 608845 - - - Reactome - Q9H0F7 - - - SwissProt - Q9H0F7 - - - - - 3q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - fascin actin-bundling protein 2, retinal - FSCN2 - - RFSN - RP30 - retinal fascin - - - gene with protein product - - - - Ensembl - ENSG00000186765 - - - Genatlas - FSCN2 - - - HGNC - 3960 - - - OMIM - 607643 - - - SwissProt - O14926 - - - ClinVar - FSCN2 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25859010[PMID] - - heparan-alpha-glucosaminide N-acetyltransferase - HGSNAT - - FLJ32731 - HGNAT - - - gene with protein product - - - - ClinVar - HGSNAT - - - SwissProt - Q68CP4 - - - Ensembl - ENSG00000165102 - - - Genatlas - HGSNAT - - - HGNC - 26527 - - - OMIM - 610453 - - - Reactome - Q68CP4 - - - - - 8p11.21-p11.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - inosine monophosphate dehydrogenase 1 - IMPDH1 - - LCA11 - sWSS2608 - - - gene with protein product - - - - ClinVar - IMPDH1 - - - Ensembl - ENSG00000106348 - - - Genatlas - IMPDH1 - - - HGNC - 6052 - - - IUPHAR - 2624 - - - OMIM - 146690 - - - Reactome - P20839 - - - SwissProt - P20839 - - - - - 7q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - MER proto-oncogene, tyrosine kinase - MERTK - - RP38 - Tyro12 - c-Eyk - mer - - - gene with protein product - - - - SwissProt - Q12866 - - - Ensembl - ENSG00000153208 - - - Genatlas - MERTK - - - HGNC - 7027 - - - IUPHAR - 1837 - - - OMIM - 604705 - - - Reactome - Q12866 - - - ClinVar - MERTK - - - - - 2q13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - nuclear receptor subfamily 2 group E member 3 - NR2E3 - - PNR - RP37 - rd7 - - - gene with protein product - - - - ClinVar - NR2E3 - - - Ensembl - ENSG00000278570 - - - Genatlas - NR2E3 - - - HGNC - 7974 - - - IUPHAR - 616 - - - OMIM - 604485 - - - Reactome - Q9Y5X4 - - - SwissProt - Q9Y5X4 - - - - - 15q23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - neural retina leucine zipper - NRL - - D14S46E - NRL-MAF - RP27 - Maf-family bZIP transcription factor NRL - - - gene with protein product - - - - ClinVar - NRL - - - Ensembl - ENSG00000129535 - - - Genatlas - NRL - - - HGNC - 8002 - - - OMIM - 162080 - - - SwissProt - P54845 - - - - - 14q11.2-q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22619378[PMID] - - OFD1 centriole and centriolar satellite protein - OFD1 - - 71-7A - JBTS10 - Joubert syndrome type 10 - - - gene with protein product - - - - Ensembl - ENSG00000046651 - - - Genatlas - OFD1 - - - HGNC - 2567 - - - OMIM - 300170 - - - Reactome - O75665 - - - SwissProt - O75665 - - - ClinVar - OFD1 - - - - - Xp22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - phosphodiesterase 6A - PDE6A - - RP43 - Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha - retinitis pigmentosa type 43 - - - gene with protein product - - - - IUPHAR - 1312 - - - Ensembl - ENSG00000132915 - - - Genatlas - PDE6A - - - HGNC - 8785 - - - OMIM - 180071 - - - Reactome - P16499 - - - SwissProt - P16499 - - - ClinVar - PDE6A - - - - - 5q32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - phosphodiesterase 6B - PDE6B - - CSNB3 - CSNBAD2 - RP40 - congenital stationary night blindness 3, autosomal dominant - rd1 - rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta - - - gene with protein product - - - - IUPHAR - 1313 - - - Ensembl - ENSG00000133256 - - - Genatlas - PDE6B - - - HGNC - 8786 - - - OMIM - 180072 - - - Reactome - P35913 - - - SwissProt - P35913 - - - ClinVar - PDE6B - - - - - 4p16.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - semaphorin 4A - SEMA4A - - CORD10 - FLJ12287 - SemB - - - gene with protein product - - - - ClinVar - SEMA4A - - - Ensembl - ENSG00000196189 - - - Genatlas - SEMA4A - - - HGNC - 10729 - - - OMIM - 607292 - - - Reactome - Q9H3S1 - - - SwissProt - Q9H3S1 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - cyclic nucleotide gated channel subunit beta 1 - CNGB1 - - cyclic nucleotide-gated cation channel beta-1 - CNGB1B - GAR1 - GARP - RCNC2 - RCNCb - RP45 - glutamic acid-rich protein - - - gene with protein product - - - - ClinVar - CNGB1 - - - SwissProt - Q14028 - - - Ensembl - ENSG00000070729 - - - Genatlas - CNGB1 - - - HGNC - 2151 - - - IUPHAR - 398 - - - OMIM - 600724 - - - Reactome - Q14028 - - - - - 16q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase - TOPORS - - LUN - TP53BPL - - - gene with protein product - - - - ClinVar - TOPORS - - - Ensembl - ENSG00000197579 - - - Genatlas - TOPORS - - - HGNC - 21653 - - - OMIM - 609507 - - - SwissProt - Q9NS56 - - - - - 9p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - prominin 1 - PROM1 - - AC133 - CD133 - CORD12 - RP41 - AC133 antigen - Retinitis pigmentosa 41, Cone-rod dystrophy 12 - - - gene with protein product - - - - ClinVar - PROM1 - - - Ensembl - ENSG00000007062 - - - Genatlas - PROM1 - - - HGNC - 9454 - - - OMIM - 604365 - - - SwissProt - O43490 - - - - - 4p15.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18055821[PMID]_20301590[PMID] - - lecithin retinol acyltransferase - LRAT - - LCA14 - phosphatidylcholine--retinol O-acyltransferase - - - gene with protein product - - - - ClinVar - LRAT - - - Ensembl - ENSG00000121207 - - - Genatlas - LRAT - - - HGNC - 6685 - - - OMIM - 604863 - - - Reactome - O95237 - - - SwissProt - O95237 - - - - - 4q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - eyes shut homolog - EYS - - SPAM - bA166P24.2 - bA307F22.3 - bA74E24.1 - dJ1018A4.2 - dJ303F19.1 - - - gene with protein product - - - - Ensembl - ENSG00000188107 - - - Genatlas - EYS - - - HGNC - 21555 - - - OMIM - 612424 - - - SwissProt - Q5T1H1 - - - ClinVar - EYS - - - - - 6q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta - IDH3B - - RP46 - - - gene with protein product - - - - Ensembl - ENSG00000101365 - - - Genatlas - IDH3B - - - HGNC - 5385 - - - OMIM - 604526 - - - Reactome - O43837 - - - SwissProt - O43837 - - - ClinVar - IDH3B - - - - - 20p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19268277[PMID]_20301590[PMID] - - spermatogenesis associated 7 - SPATA7 - - HSD3 - - - gene with protein product - - - - Ensembl - ENSG00000042317 - - - Genatlas - SPATA7 - - - HGNC - 20423 - - - OMIM - 609868 - - - SwissProt - Q9P0W8 - - - ClinVar - SPATA7 - - - - - 14q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - guanylate cyclase activator 1B - GUCA1B - - GCAP2 - RP48 - GCAP-II - GCAP-2 - - - gene with protein product - - - - ClinVar - GUCA1B - - - Ensembl - ENSG00000112599 - - - Genatlas - GUCA1B - - - HGNC - 4679 - - - OMIM - 602275 - - - Reactome - Q9UMX6 - - - SwissProt - Q9UMX6 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - kelch like family member 7 - KLHL7 - - KLHL6 - RP42 - SBBI26 - retinitis pigmentosa 42 - - - gene with protein product - - - - Ensembl - ENSG00000122550 - - - Genatlas - KLHL7 - - - HGNC - 15646 - - - OMIM - 611119 - - - SwissProt - Q8IXQ5 - - - ClinVar - KLHL7 - - - - - 7p15.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - small nuclear ribonucleoprotein U5 subunit 200 - SNRNP200 - - Brr2 - HELIC2 - KIAA0788 - U5 snRNP specific protein, 200 KD - U5-200KD - bad response to refrigeration 2 homolog (S. cerevisiae) - - - gene with protein product - - - - Ensembl - ENSG00000144028 - - - Genatlas - SNRNP200 - - - HGNC - 30859 - - - OMIM - 601664 - - - Reactome - O75643 - - - SwissProt - O75643 - - - ClinVar - SNRNP200 - - - - - 2q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - photoreceptor cilium actin regulator - PCARE - - FLJ34931 - RP54 - - - gene with protein product - - - - Ensembl - ENSG00000179270 - - - Genatlas - C2orf71 - - - HGNC - 34383 - - - OMIM - 613425 - - - SwissProt - A6NGG8 - - - ClinVar - C2orf71 - - - - - 2p23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - phosphodiesterase 6G - PDE6G - - RP57 - - - gene with protein product - - - - Ensembl - ENSG00000185527 - - - Genatlas - PDE6G - - - HGNC - 8789 - - - OMIM - 180073 - - - Reactome - P18545 - - - SwissProt - P18545 - - - IUPHAR - 1316 - - - ClinVar - PDE6G - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - interphotoreceptor matrix proteoglycan 2 - IMPG2 - - IPM200 - RP56 - SPACRCAN - - - gene with protein product - - - - Ensembl - ENSG00000081148 - - - Genatlas - IMPG2 - - - HGNC - 18362 - - - OMIM - 607056 - - - SwissProt - Q9BZV3 - - - ClinVar - IMPG2 - - - - - 3q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - FAM161 centrosomal protein A - FAM161A - - FLJ13305 - - - gene with protein product - - - - ClinVar - FAM161A - - - OMIM - 613596 - - - SwissProt - Q3B820 - - - Reactome - Q3B820 - - - Ensembl - ENSG00000170264 - - - Genatlas - FAM161A - - - HGNC - 25808 - - - - - 2p15 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - zinc finger protein 513 - ZNF513 - - Zfp513 - FLJ32203 - RP58 - - - gene with protein product - - - - ClinVar - ZNF513 - - - Reactome - Q8N8E2 - - - Ensembl - ENSG00000163795 - - - Genatlas - ZNF513 - - - HGNC - 26498 - - - OMIM - 613598 - - - SwissProt - Q8N8E2 - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20087419[PMID] - - cadherin related family member 1 - CDHR1 - - CORD15 - KIAA1775 - RP65 - - - gene with protein product - - - - Ensembl - ENSG00000148600 - - - Genatlas - CDHR1 - - - HGNC - 14550 - - - OMIM - 609502 - - - SwissProt - Q96JP9 - - - ClinVar - CDHR1 - - - - - 10q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - dehydrodolichyl diphosphate synthase subunit - DHDDS - - RP59 - DS - FLJ13102 - HDS - hCIT - - - gene with protein product - - - - Ensembl - ENSG00000117682 - - - Genatlas - DHDDS - - - HGNC - 20603 - - - OMIM - 608172 - - - Reactome - Q86SQ9 - - - SwissProt - Q86SQ9 - - - ClinVar - DHDDS - - - - - 1p36.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - pre-mRNA processing factor 6 - PRPF6 - - ANT-1 - Prp6 - RP60 - SNRNP102 - TOM - U5-102K - bB152O15.1 - hPrp6 - - - gene with protein product - - - - OMIM - 613979 - - - Reactome - O94906 - - - SwissProt - O94906 - - - Ensembl - ENSG00000101161 - - - Genatlas - PRPF6 - - - HGNC - 15860 - - - ClinVar - PRPF6 - - - - - 20q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID] - - male germ cell associated kinase - MAK - - RP62 - dJ417M14.2 - - - gene with protein product - - - - Ensembl - ENSG00000111837 - - - Genatlas - MAK - - - HGNC - 6816 - - - IUPHAR - 2061 - - - OMIM - 154235 - - - SwissProt - P20794 - - - ClinVar - MAK - - - Reactome - P20794 - - - - - 6p24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301590[PMID]_19074801[PMID] - - retinol binding protein 3 - RBP3 - - interphotoreceptor retinoid-binding protein - IRBP - D10S64 - D10S65 - D10S66 - RP66 - interstitial retinol-binding protein 3 - - - gene with protein product - - - - Ensembl - ENSG00000265203 - - - Genatlas - RBP3 - - - HGNC - 9921 - - - OMIM - 180290 - - - Reactome - P10745 - - - SwissProt - P10745 - - - ClinVar - RBP3 - - - IUPHAR - 2548 - - - - - 10q11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22177090[PMID]_20301590[PMID] - - cilia and flagella associated protein 418 - CFAP418 - - Bardet-Biedl syndrome 21 - CORD16 - FLJ30600 - RP64 - cone-rod dystrophy 16 - BBS21 - MOT25. - MOT25 - FAP418 - SMALLTALK - - - gene with protein product - - - - Ensembl - ENSG00000156172 - - - Genatlas - C8orf37 - - - HGNC - 27232 - - - OMIM - 614477 - - - SwissProt - Q96NL8 - - - ClinVar - C8orf37 - - - - - 8q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26216056[PMID] - - intraflagellar transport 140 - IFT140 - - KIAA0590 - gs114 - - - gene with protein product - - - - Ensembl - ENSG00000187535 - - - Genatlas - IFT140 - - - HGNC - 29077 - - - OMIM - 614620 - - - Reactome - Q96RY7 - - - SwissProt - Q96RY7 - - - ClinVar - IFT140 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25882705[PMID] - - zinc finger protein 408 - ZNF408 - - FLJ12827 - PRDM17 - PR/SET domain 17 - - - gene with protein product - - - - Ensembl - ENSG00000175213 - - - Genatlas - ZNF408 - - - HGNC - 20041 - - - OMIM - 616454 - - - SwissProt - Q9H9D4 - - - Reactome - Q9H9D4 - - - ClinVar - ZNF408 - - - - - 11p11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23849777[PMID] - - ARF like GTPase 2 binding protein - ARL2BP - - BART - BART1 - binder of Arl2 - - - gene with protein product - - - - Ensembl - ENSG00000102931 - - - Genatlas - ARL2BP - - - HGNC - 17146 - - - OMIM - 615407 - - - Reactome - Q9Y2Y0 - - - SwissProt - Q9Y2Y0 - - - ClinVar - ARL2BP - - - - - 16q13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24043777[PMID] - - NIMA related kinase 2 - NEK2 - - HsPK 21 - NEK2A - NLK1 - PPP1R111 - RP67 - protein phosphatase 1, regulatory subunit 111 - - - gene with protein product - - - - Ensembl - ENSG00000117650 - - - Genatlas - NEK2 - - - HGNC - 7745 - - - IUPHAR - 2117 - - - OMIM - 604043 - - - Reactome - P51955 - - - SwissProt - P51955 - - - ClinVar - NEK2 - - - - - 1q32.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25168386[PMID] - - intraflagellar transport 172 - IFT172 - - NPHP17 - SLB - osm-1 - wim - wimple homolog - BBS20 - - - gene with protein product - - - - OMIM - 607386 - - - Reactome - Q9UG01 - - - SwissProt - Q9UG01 - - - ClinVar - IFT172 - - - Ensembl - ENSG00000138002 - - - Genatlas - IFT172 - - - HGNC - 30391 - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24375934[PMID] - - TUB bipartite transcription factor - TUB - - rd5 - - - gene with protein product - - - - Ensembl - ENSG00000166402 - - - Genatlas - TUB - - - HGNC - 12406 - - - OMIM - 601197 - - - SwissProt - P50607 - - - ClinVar - TUB - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24680887[PMID] - - kizuna centrosomal protein - KIZ - - HT013 - - - gene with protein product - - - - Reactome - Q2M2Z5 - - - ClinVar - KIZ - - - Ensembl - ENSG00000088970 - - - Genatlas - KIZ - - - HGNC - 15865 - - - OMIM - 615757 - - - SwissProt - Q2M2Z5 - - - - - 20p11.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24670872[PMID] - - solute carrier family 7 member 14 - SLC7A14 - - KIAA1613 - PPP1R142 - protein phosphatase 1, regulatory subunit 142 - - - gene with protein product - - - - IUPHAR - 895 - - - ClinVar - SLC7A14 - - - Ensembl - ENSG00000013293 - - - Genatlas - SLC7A14 - - - HGNC - 29326 - - - OMIM - 615720 - - - SwissProt - Q8TBB6 - - - - - 3q26.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24419317[PMID] - - pre-mRNA splicing tri-snRNP complex factor PRPF4 - PRPF4 - - HPRP4 - HPRP4P - PRP4 - PRP4/STK/WD splicing factor - Prp4p - SNRNP60 - U4/U6 small nuclear ribonucleoprotein Prp4 - - - gene with protein product - - - - Ensembl - ENSG00000136875 - - - Genatlas - PRPF4 - - - HGNC - 17349 - - - OMIM - 607795 - - - Reactome - O43172 - - - SwissProt - O43172 - - - ClinVar - PRPF4 - - - - - 9q32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 31833436[PMID] - - RP1 like 1 - RP1L1 - - doublecortin domain containing 4B - DCDC4B - - - gene with protein product - - - - ClinVar - RP1L1 - - - Ensembl - ENSG00000183638 - - - Genatlas - RP1L1 - - - HGNC - 15946 - - - OMIM - 608581 - - - SwissProt - Q8IWN7 - - - - - 8p23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29726989[PMID] - - aryl hydrocarbon receptor - AHR - - bHLHe76 - - - gene with protein product - - - - ClinVar - AHR - - - IUPHAR - 2951 - - - HGNC - 348 - - - Ensembl - ENSG00000106546 - - - SwissProt - P35869 - - - OMIM - 600253 - - - Genatlas - AHR - - - Reactome - P35869 - - - - - 7p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 39226897[PMID] - - coenzyme Q8B - COQ8B - - COQ8 - FLJ12229 - - - gene with protein product - - - - ClinVar - ADCK4 - - - Ensembl - ENSG00000123815 - - - Genatlas - ADCK4 - - - HGNC - 19041 - - - IUPHAR - 1928 - - - OMIM - 615567 - - - SwissProt - Q96D53 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32817297[PMID] - - interphotoreceptor matrix proteoglycan 1 - IMPG1 - - GP147 - IPM150 - - - gene with protein product - - - - ClinVar - IMPG1 - - - Ensembl - ENSG00000112706 - - - Genatlas - IMPG1 - - - HGNC - 6055 - - - OMIM - 602870 - - - SwissProt - Q17R60 - - - - - 6q14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28412069[PMID] - - isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha - IDH3A - - H-IDH alpha - isocitrate dehydrogenase (NAD+) alpha chain - isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial - isocitric dehydrogenase - NAD(H)-specific isocitrate dehydrogenase alpha subunit - NAD+-specific ICDH - - - gene with protein product - - - - HGNC - 5384 - - - Ensembl - ENSG00000166411 - - - ClinVar - IDH3A - - - SwissProt - P50213 - - - OMIM - 601149 - - - Genatlas - IDH3A - - - Reactome - P50213 - - - - - 15q25.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 30208423[PMID] - - DEAH-box helicase 38 - DHX38 - - hPrp16 - KIAA0224 - PRPF16 - pre-mRNA processing factor 16 - Prp16 - - - gene with protein product - - - - ClinVar - DHX38 - - - OMIM - 605584 - - - Ensembl - ENSG00000140829 - - - Genatlas - DHX38 - - - HGNC - 17211 - - - Reactome - Q92620 - - - SwissProt - Q92620 - - - - - 16q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26964041[PMID] - - ARF like GTPase 3 - ARL3 - - ARFL3 - - - gene with protein product - - - - SwissProt - P36405 - - - OMIM - 604695 - - - Genatlas - ARL3 - - - Reactome - P36405 - - - HGNC - 694 - - - Ensembl - ENSG00000138175 - - - ClinVar - ARL3 - - - - - 10q24.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26908613[PMID] - - protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) - POMGNT1 - - FLJ20277 - LGMD2O - MGAT1.2 - protein O-mannose beta-1,2-N-acetylglucosaminyltransferase - - - gene with protein product - - - - Reactome - Q8WZA1 - - - Ensembl - ENSG00000085998 - - - Genatlas - POMGNT1 - - - HGNC - 19139 - - - OMIM - 606822 - - - SwissProt - Q8WZA1 - - - ClinVar - POMGNT1 - - - - - 1p34.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2131 - Alternating hemiplegia of childhood - - Disease - - - Disorder - - - - 18498393[PMID] - - calcium voltage-gated channel subunit alpha1 A - CACNA1A - - APCA - Cav2.1 - EA2 - FHM - HPCA - - - gene with protein product - - - - ClinVar - CACNA1A - - - Ensembl - ENSG00000141837 - - - Genatlas - CACNA1A - - - HGNC - 1388 - - - IUPHAR - 532 - - - OMIM - 601011 - - - Reactome - O00555 - - - SwissProt - O00555 - - - - - 19p13.13 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 15286158[PMID] - - ATPase Na+/K+ transporting subunit alpha 2 - ATP1A2 - - FHM2 - sodium pump subunit alpha-2 - sodium-potassium ATPase catalytic subunit alpha-2 - sodium/potassium-transporting ATPase subunit alpha-2 - - - gene with protein product - - - - ClinVar - ATP1A2 - - - IUPHAR - 834 - - - HGNC - 800 - - - OMIM - 182340 - - - Reactome - P50993 - - - SwissProt - P50993 - - - Ensembl - ENSG00000018625 - - - Genatlas - ATP1A2 - - - - - 1q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22842232[PMID] - - ATPase Na+/K+ transporting subunit alpha 3 - ATP1A3 - - sodium pump subunit alpha-3 - sodium-potassium ATPase catalytic subunit alpha-3 - sodium/potassium-transporting ATPase subunit alpha-3 - - - gene with protein product - - - - ClinVar - ATP1A3 - - - IUPHAR - 835 - - - Ensembl - ENSG00000105409 - - - Genatlas - ATP1A3 - - - HGNC - 801 - - - OMIM - 182350 - - - Reactome - P13637 - - - SwissProt - P13637 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 38097767[PMID] - - sodium voltage-gated channel alpha subunit 2 - SCN2A - - HBSCI - HBSCII - Nav1.2 - - - gene with protein product - - - - ClinVar - SCN2A - - - Ensembl - ENSG00000136531 - - - Genatlas - SCN2A - - - HGNC - 10588 - - - IUPHAR - 579 - - - OMIM - 182390 - - - Reactome - Q99250 - - - SwissProt - Q99250 - - - - - 2q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19996082[PMID] - - solute carrier family 2 member 1 - SLC2A1 - - DYT18 - DYT9 - GLUT-1 - dystonia gene 18 - dystonia gene 9 - - - gene with protein product - - - - ClinVar - SLC2A1 - - - IUPHAR - 875 - - - Ensembl - ENSG00000117394 - - - Genatlas - SLC2A1 - - - HGNC - 11005 - - - OMIM - 138140 - - - Reactome - P11166 - - - SwissProt - P11166 - - - - - 1p34.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32489883[PMID] - - mitochondrially encoded tRNA-Leu (CUN) 2 - MT-TL2 - - TRNL2 - - - Non-coding RNA - - - - SwissProt - - - - ClinVar - MT-TL2 - - - Ensembl - ENSG00000210191 - - - Genatlas - MT-TL2 - - - HGNC - 7491 - - - OMIM - 590055 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - solute carrier family 1 member 3 - SLC1A3 - - excitatory amino acid transporter 1 - glutamate/aspartate transporter 1 - GLAST-1 - GLAST1 - EA6 - EAAT1 - GLAST - - - gene with protein product - - - - ClinVar - SLC1A3 - - - Reactome - P43003 - - - SwissProt - P43003 - - - IUPHAR - 868 - - - Ensembl - ENSG00000079215 - - - Genatlas - SLC1A3 - - - HGNC - 10941 - - - OMIM - 600111 - - - - - 5p13.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 33504645[PMID] - - Rho related BTB domain containing 2 - RHOBTB2 - - - - gene with protein product - - - - HGNC - 18756 - - - - - 8p21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=713 - Glycogen storage disease due to phosphoglycerate kinase 1 deficiency - - Disease - - - Disorder - - - - 1547346[PMID] - - phosphoglycerate kinase 1 - PGK1 - - - - gene with protein product - - - - Ensembl - ENSG00000102144 - - - Genatlas - PGK1 - - - HGNC - 8896 - - - OMIM - 311800 - - - Reactome - P00558 - - - SwissProt - P00558 - - - ClinVar - PGK1 - - - - - Xq21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 57 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57 - Glycogen storage disease due to aldolase A deficiency - - Disease - - - Disorder - - - - - - aldolase, fructose-bisphosphate A - ALDOA - - - - gene with protein product - - - - Ensembl - ENSG00000149925 - - - Genatlas - ALDOA - - - HGNC - 414 - - - OMIM - 103850 - - - Reactome - P04075 - - - SwissProt - P04075 - - - ClinVar - ALDOA - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2334 - Autosomal dominant keratitis - - Disease - - - Disorder - - - - 7668281[PMID] - - paired box 6 - PAX6 - - AN - D11S812E - WAGR - aniridia, keratitis - Aniridia 1 - Aniridia 2 - - - gene with protein product - - - - Ensembl - ENSG00000007372 - - - Genatlas - PAX6 - - - HGNC - 8620 - - - OMIM - 607108 - - - Reactome - P26367 - - - SwissProt - P26367 - - - ClinVar - PAX6 - - - - - 11p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 46 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46 - Adenylosuccinate lyase deficiency - - Disease - - - Disorder - - - - 18524658[PMID] - - adenylosuccinate lyase - ADSL - - - - gene with protein product - - - - HGNC - 291 - - - OMIM - 608222 - - - Reactome - P30566 - - - SwissProt - P30566 - - - Ensembl - ENSG00000239900 - - - Genatlas - ADSL - - - ClinVar - ADSL - - - - - 22q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3166 - Sialuria - - Disease - - - Disorder - - - - 20301343[PMID] - - glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - GNE - - Uae1 - bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase - - - gene with protein product - - - - ClinVar - GNE - - - Ensembl - ENSG00000159921 - - - Genatlas - GNE - - - HGNC - 23657 - - - OMIM - 603824 - - - Reactome - Q9Y223 - - - SwissProt - Q9Y223 - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2882 - Sitosterolemia - - Disease - - - Disorder - - - - 11138003[PMID]_23556150[PMID] - - ATP binding cassette subfamily G member 5 - ABCG5 - - STSL - sterolin 1 - - - gene with protein product - - - - IUPHAR - 794 - - - ClinVar - ABCG5 - - - Genatlas - ABCG5 - - - HGNC - 13886 - - - OMIM - 605459 - - - Reactome - Q9H222 - - - SwissProt - Q9H222 - - - Ensembl - ENSG00000138075 - - - - - 2p21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11099417[PMID]_23556150[PMID] - - ATP binding cassette subfamily G member 8 - ABCG8 - - GBD4 - gallbladder disease 4 - sterolin 2 - - - gene with protein product - - - - IUPHAR - 795 - - - ClinVar - ABCG8 - - - Ensembl - ENSG00000143921 - - - Genatlas - ABCG8 - - - HGNC - 13887 - - - OMIM - 605460 - - - Reactome - Q9H221 - - - SwissProt - Q9H221 - - - - - 2p21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 900 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=900 - Granulomatosis with polyangiitis - - Disease - - - Disorder - - - - 28029757[PMID] - - major histocompatibility complex, class II, DP alpha 1 - HLA-DPA1 - - - - gene with protein product - - - - SwissProt - P20036 - - - Ensembl - ENSG00000231389 - - - OMIM - 142880 - - - HGNC - 4938 - - - - - 6p21.32 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23740775[PMID] - - major histocompatibility complex, class II, DP beta 1 - HLA-DPB1 - - - - gene with protein product - - - - Ensembl - ENSG00000223865 - - - Genatlas - HLA-DPB1 - - - HGNC - 4940 - - - OMIM - 142858 - - - Reactome - P04440 - - - SwissProt - P04440 - - - ClinVar - HLA-DPB1 - - - - - 6p21.32 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22508400[PMID] - - cytotoxic T-lymphocyte associated protein 4 - CTLA4 - - CD - CD152 - GSE - gluten-sensitive enteropathy - celiac disease - CTLA-4 - - - gene with protein product - - - - IUPHAR - 2743 - - - ClinVar - CTLA4 - - - Ensembl - ENSG00000163599 - - - Genatlas - CTLA4 - - - HGNC - 2505 - - - OMIM - 123890 - - - Reactome - P16410 - - - SwissProt - P16410 - - - - - 2q33.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22508400[PMID]_22696186[PMID] - - protein tyrosine phosphatase non-receptor type 22 - PTPN22 - - Lyp - Lyp1 - Lyp2 - - - gene with protein product - - - - Ensembl - ENSG00000134242 - - - Genatlas - PTPN22 - - - HGNC - 9652 - - - OMIM - 600716 - - - SwissProt - Q9Y2R2 - - - IUPHAR - 3084 - - - Reactome - Q9Y2R2 - - - ClinVar - PTPN22 - - - - - 1p13.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22808956[PMID] - - proteinase 3 - PRTN3 - - ACPA - AGP7 - C-ANCA - MBT - P29 - PR-3 - Wegener granulomatosis autoantigen - myeloblastin - serine proteinase, neutrophil - - - gene with protein product - - - - ClinVar - PRTN3 - - - Ensembl - ENSG00000196415 - - - Genatlas - PRTN3 - - - HGNC - 9495 - - - IUPHAR - 2401 - - - OMIM - 177020 - - - Reactome - P24158 - - - SwissProt - P24158 - - - - - 19p13.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 171695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171695 - Parkinsonian-pyramidal syndrome - - Disease - - - Disorder - - - - 23526723[PMID] - - synuclein alpha - SNCA - - NACP - PD1 - alpha-synuclein - non A4 component of amyloid precursor - a-synuclein - - - gene with protein product - - - - IUPHAR - 3285 - - - ClinVar - SNCA - - - Ensembl - ENSG00000145335 - - - Genatlas - SNCA - - - HGNC - 11138 - - - OMIM - 163890 - - - Reactome - P37840 - - - SwissProt - P37840 - - - - - 4q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19038853[PMID] - - F-box protein 7 - FBXO7 - - FBX7 - Fbx - PARK15 - - - gene with protein product - - - - Reactome - Q9Y3I1 - - - ClinVar - FBXO7 - - - Ensembl - ENSG00000100225 - - - Genatlas - FBXO7 - - - HGNC - 13586 - - - OMIM - 605648 - - - SwissProt - Q9Y3I1 - - - - - 22q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=134 - Beta-ketothiolase deficiency - - Disease - - - Disorder - - - - 23430882[PMID] - - acetyl-CoA acetyltransferase 1 - ACAT1 - - THIL - acetoacetyl Coenzyme A thiolase - - - gene with protein product - - - - ClinVar - ACAT1 - - - Ensembl - ENSG00000075239 - - - Genatlas - ACAT1 - - - HGNC - 93 - - - IUPHAR - 2435 - - - OMIM - 607809 - - - Reactome - P24752 - - - SwissProt - P24752 - - - - - 11q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 171700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171700 - Diffuse panbronchiolitis - - Disease - - - Disorder - - - - - - mucin like 3 - MUCL3 - - PBLT - bCX105N19.6 - C6orf37 - - - gene with protein product - - - - ClinVar - DPCR1 - - - Ensembl - ENSG00000168631 - - - Genatlas - DPCR1 - - - HGNC - 21666 - - - OMIM - 613928 - - - SwissProt - Q3MIW9 - - - - - 6p21.33 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - mucin 5B, oligomeric mucus/gel-forming - MUC5B - - MG1 - mucin MG1 - MUC-5B - - - gene with protein product - - - - Ensembl - ENSG00000117983 - - - Genatlas - MUC5B - - - HGNC - 7516 - - - OMIM - 600770 - - - Reactome - Q9HC84 - - - SwissProt - Q9HC84 - - - ClinVar - MUC5B - - - - - 11p15.5 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - 171703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171703 - Microcephaly-polymicrogyria-corpus callosum agenesis syndrome - - Malformation syndrome - - - Disorder - - - - 17353897[PMID] - - eomesodermin - EOMES - - T-box brain2 - TBR2 - - - gene with protein product - - - - Ensembl - ENSG00000163508 - - - Genatlas - EOMES - - - HGNC - 3372 - - - OMIM - 604615 - - - SwissProt - O95936 - - - ClinVar - EOMES - - - - - 3p24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 171706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171706 - Short stature-delayed bone age due to thyroid hormone metabolism deficiency - - Disease - - - Disorder - - - - 16228000[PMID]_19602558[PMID] - - SECIS binding protein 2 - SECISBP2 - - SBP2 - Sec insertion sequence-binding protein 2 - Selenocysteine insertion sequence-binding protein 2 - - - gene with protein product - - - - Reactome - Q96T21 - - - SwissProt - Q96T21 - - - Ensembl - ENSG00000187742 - - - Genatlas - SECISBP2 - - - HGNC - 30972 - - - OMIM - 607693 - - - ClinVar - SECISBP2 - - - - - 9q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 171709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171709 - Male infertility due to globozoospermia - - Clinical subtype - - - Subtype of disorder - - - - 31985809[PMID] - - C2 calcium dependent domain containing 6 - C2CD6 - - FLJ25351 - - - gene with protein product - - - - HGNC - 14438 - - - Ensembl - ENSG00000155754 - - - OMIM - 619776 - - - SwissProt - Q53TS8 - - - - - 2q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31985809[PMID] - - gametogenetin - GGN - - MGC33369 - FLJ35713 - - - gene with protein product - - - - HGNC - 18869 - - - OMIM - 609966 - - - SwissProt - Q86UU5 - - - Ensembl - ENSG00000179168 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 36135717[PMID] - - septin 4 - SEPTIN4 - - Septin-4 - bradeoin - septin-M - H5 - hCDCREL-2 - hucep-7 - MART - FLJ40121 - ARTS - CE5B3 - - - gene with protein product - - - - Ensembl - ENSG00000108387 - - - OMIM - 603696 - - - SwissProt - O43236 - - - HGNC - 9165 - - - - - 17q22 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22049801[PMID] - - golgi associated PDZ and coiled-coil motif containing - GOPC - - CAL - dJ94G16.2 - FIG - GOPC1 - PIST - - - gene with protein product - - - - ClinVar - GOPC - - - HGNC - 17643 - - - Ensembl - ENSG00000047932 - - - SwissProt - Q9HD26 - - - OMIM - 606845 - - - Genatlas - GOPC - - - Reactome - Q9HD26 - - - - - 6q22.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 31985809[PMID] - - zona pellucida binding protein - ZPBP - - ZPBP1 - SP38 - - - gene with protein product - - - - HGNC - 15662 - - - Ensembl - ENSG00000042813 - - - OMIM - 608498 - - - SwissProt - Q9BS86 - - - - - 7p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17847006[PMID]_22571172[PMID] - - spermatogenesis associated 16 - SPATA16 - - NYD-SP12 - - - gene with protein product - - - - Ensembl - ENSG00000144962 - - - Genatlas - SPATA16 - - - HGNC - 29935 - - - OMIM - 609856 - - - SwissProt - Q9BXB7 - - - ClinVar - SPATA16 - - - - - 3q26.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21397063[PMID]_22571172[PMID] - - dpy-19 like 2 - DPY19L2 - - FLJ32949 - SPATA34 - spermatogenesis associated 34 - - - gene with protein product - - - - Ensembl - ENSG00000177990 - - - Genatlas - DPY19L2 - - - HGNC - 19414 - - - OMIM - 613893 - - - SwissProt - Q6NUT2 - - - ClinVar - DPY19L2 - - - - - 12q14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20562896[PMID]_22571172[PMID] - - protein interacting with PRKCA 1 - PICK1 - - MGC15204 - dJ1039K5 - - - gene with protein product - - - - ClinVar - PICK1 - - - Ensembl - ENSG00000100151 - - - Genatlas - PICK1 - - - HGNC - 9394 - - - OMIM - 605926 - - - Reactome - Q9NRD5 - - - SwissProt - Q9NRD5 - - - - - 22q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 171723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171723 - White sponge nevus - - Disease - - - Disorder - - - - 10652003[PMID]_12828738[PMID]_23182699[PMID] - - keratin 4 - KRT4 - - CK4 - K4 - cytokeratin 4 - keratin, type II cytoskeletal 4 - - - gene with protein product - - - - Reactome - P19013 - - - Ensembl - ENSG00000170477 - - - Genatlas - KRT4 - - - HGNC - 6441 - - - OMIM - 123940 - - - SwissProt - P19013 - - - ClinVar - KRT4 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 7493031[PMID]_10561721[PMID]_11379896[PMID]_14600690[PMID] - - keratin 13 - KRT13 - - CK13 - K13 - MGC161462 - MGC3781 - cytokeratin 13 - keratin, type I cytoskeletal 13 - - - gene with protein product - - - - HGNC - 6415 - - - OMIM - 148065 - - - SwissProt - P13646 - - - Reactome - P13646 - - - Ensembl - ENSG00000171401 - - - Genatlas - KRT13 - - - ClinVar - KRT13 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 171680 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171680 - Lissencephaly due to TUBA1A mutation - - Malformation syndrome - - - Disorder - - - - 18669490[PMID]_18954413[PMID]_22264709[PMID] - - tubulin alpha 1a - TUBA1A - - B-ALPHA-1 - FLJ25113 - TUBA3 - Tubulin, alpha, brain-specific - tubulin, alpha, brain-specific - - - gene with protein product - - - - ClinVar - TUBA1A - - - Ensembl - ENSG00000167552 - - - Genatlas - TUBA1A - - - HGNC - 20766 - - - IUPHAR - 2638 - - - OMIM - 602529 - - - Reactome - Q71U36 - - - SwissProt - Q71U36 - - - - - 12q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 171690 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171690 - Metabolic myopathy due to lactate transporter defect - - Disease - - - Disorder - - - - 10590411[PMID] - - solute carrier family 16 member 1 - SLC16A1 - - Monocarboxylate transporter 1 - MCT - MCT1 - - - gene with protein product - - - - Ensembl - ENSG00000155380 - - - Genatlas - SLC16A1 - - - HGNC - 10922 - - - OMIM - 600682 - - - Reactome - P53985 - - - SwissProt - P53985 - - - ClinVar - SLC16A1 - - - IUPHAR - 988 - - - - - 1p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 171863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171863 - Autosomal dominant spastic paraplegia type 42 - - Disease - - - Disorder - - - - 19061983[PMID] - - solute carrier family 33 member 1 - SLC33A1 - - Acetyl-CoA transporter 1 - AT-1 - AT1 - - - gene with protein product - - - - IUPHAR - 1134 - - - Ensembl - ENSG00000169359 - - - Genatlas - SLC33A1 - - - HGNC - 95 - - - OMIM - 603690 - - - Reactome - O00400 - - - SwissProt - O00400 - - - ClinVar - SLC33A1 - - - - - 3q25.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 171871 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171871 - Renal pseudohypoaldosteronism type 1 - - Clinical subtype - - - Subtype of disorder - - - - 16757525[PMID]_19571553[PMID] - - nuclear receptor subfamily 3 group C member 2 - NR3C2 - - MR - - - gene with protein product - - - - ClinVar - NR3C2 - - - IUPHAR - 626 - - - OMIM - 600983 - - - Reactome - P08235 - - - SwissProt - P08235 - - - Ensembl - ENSG00000151623 - - - Genatlas - NR3C2 - - - HGNC - 7979 - - - - - 4q31.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 171866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171866 - Spondyloepimetaphyseal dysplasia, aggrecan type - - Disease - - - Disorder - - - - 19110214[PMID] - - aggrecan - ACAN - - CSPGCP - aggrecan proteoglycan - - - gene with protein product - - - - ClinVar - ACAN - - - Ensembl - ENSG00000157766 - - - Genatlas - ACAN - - - HGNC - 319 - - - OMIM - 155760 - - - Reactome - P16112 - - - SwissProt - P16112 - - - - - 15q26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 171881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171881 - Cap myopathy - - Disease - - - Disorder - - - - 28220527[PMID] - - myopalladin - MYPN - - MYOP - Sarcomeric protein myopalladin, 145 kDa - sarcomeric protein myopalladin, 145 kDa - - - gene with protein product - - - - Ensembl - ENSG00000138347 - - - Genatlas - MYPN - - - HGNC - 23246 - - - OMIM - 608517 - - - SwissProt - Q86TC9 - - - ClinVar - MYPN - - - - - 10q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301465[PMID]_17846275[PMID] - - tropomyosin 2 - TPM2 - - DA1 - NEM4 - nemaline myopathy type 4 - - - gene with protein product - - - - Ensembl - ENSG00000198467 - - - Genatlas - TPM2 - - - HGNC - 12011 - - - OMIM - 190990 - - - Reactome - P07951 - - - SwissProt - P07951 - - - ClinVar - TPM2 - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20554445[PMID] - - tropomyosin 3 - TPM3 - - TRK - - - gene with protein product - - - - OMIM - 191030 - - - Reactome - P06753 - - - SwissProt - P06753 - - - Ensembl - ENSG00000143549 - - - Genatlas - TPM3 - - - HGNC - 12012 - - - ClinVar - TPM3 - - - - - 1q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2512 - Autosomal recessive primary microcephaly - - Etiological subtype - - - Subtype of disorder - - - - 35790048[PMID] - - tryptophanyl-tRNA synthetase 1 - WARS1 - - IFP53 - tryptophan tRNA ligase 1, cytoplasmic - - - gene with protein product - - - - ClinVar - WARS - - - HGNC - 12729 - - - Ensembl - ENSG00000140105 - - - SwissProt - P23381 - - - OMIM - 191050 - - - Genatlas - WARS - - - Reactome - P23381 - - - - - 14q32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35790048[PMID] - - seryl-tRNA synthetase 1 - SARS1 - - serine tRNA ligase 1, cytoplasmic - SERS - - - gene with protein product - - - - ClinVar - SARS - - - HGNC - 10537 - - - Ensembl - ENSG00000031698 - - - SwissProt - P49591 - - - OMIM - 607529 - - - Genatlas - SARS - - - Reactome - P49591 - - - - - 1p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27453578[PMID] - - citron rho-interacting serine/threonine kinase - CIT - - serine/threonine kinase 21 - CRIK - KIAA0949 - STK21 - CITK - - - gene with protein product - - - - Ensembl - ENSG00000122966 - - - IUPHAR - 1509 - - - HGNC - 1985 - - - OMIM - 605629 - - - Genatlas - CIT - - - SwissProt - O14578 - - - Reactome - O14578 - - - ClinVar - CIT - - - - - 12q24.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30179222[PMID] - - nucleoporin 37 - NUP37 - - MGC5585 - FLJ22618 - - - gene with protein product - - - - HGNC - 29929 - - - Ensembl - ENSG00000075188 - - - SwissProt - Q8NFH4 - - - Reactome - Q8NFH4 - - - OMIM - 609264 - - - - - 12q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27737959[PMID] - - non-SMC condensin II complex subunit D3 - NCAPD3 - - hcp-6 - CAP-D3 - FLJ42888 - hCAP-D3 - KIAA0056 - hHCP-6 - - - gene with protein product - - - - HGNC - 28952 - - - SwissProt - P42695 - - - Ensembl - ENSG00000151503 - - - OMIM - 609276 - - - - - 11q25 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24748105[PMID] - - centromere protein E - CENPE - - KIF10 - PPP1R61 - protein phosphatase 1, regulatory subunit 61 - - - gene with protein product - - - - Ensembl - ENSG00000138778 - - - Genatlas - CENPE - - - HGNC - 1856 - - - OMIM - 117143 - - - Reactome - Q02224 - - - SwissProt - Q02224 - - - ClinVar - CENPE - - - - - 4q24 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29036432[PMID] - - COPI coat complex subunit beta 2 - COPB2 - - beta'-COP - betaprime-COP - coatomer protein complex subunit beta prime - - - gene with protein product - - - - ClinVar - COPB2 - - - HGNC - 2232 - - - Ensembl - ENSG00000184432 - - - SwissProt - P35606 - - - OMIM - 606990 - - - Genatlas - COPB2 - - - Reactome - P35606 - - - - - 3q23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32286682[PMID] - - programmed cell death 6 interacting protein - PDCD6IP - - ALG-2 interacting protein X - AIP1 - Alix - Hp95 - - - gene with protein product - - - - Ensembl - ENSG00000170248 - - - HGNC - 8766 - - - OMIM - 608074 - - - SwissProt - Q8WUM4 - - - - - 3p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35298461[PMID] - - trafficking protein particle complex subunit 10 - TRAPPC10 - - TRAPP 130 kDa subunit - EHOC-1 - TRS130 - trafficking protein particle complex subunit 130 - - - gene with protein product - - - - HGNC - 11868 - - - OMIM - 602103 - - - SwissProt - P48553 - - - Ensembl - ENSG00000160218 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34059554[PMID] - - minichromosome maintenance complex component 7 - MCM7 - - PPP1R104 - protein phosphatase 1, regulatory subunit 104 - CDC47 - - - gene with protein product - - - - HGNC - 6950 - - - Ensembl - ENSG00000166508 - - - OMIM - 600592 - - - SwissProt - P33993 - - - - - 7q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31564433[PMID] - - methyltransferase 5, N6-adenosine - METTL5 - - HSPC133 - - - gene with protein product - - - - HGNC - 25006 - - - Ensembl - ENSG00000138382 - - - SwissProt - Q9NRN9 - - - OMIM - 618628 - - - - - 2q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30715179[PMID] - - trafficking protein particle complex subunit 14 - TRAPPC14 - - FLJ10925 - - - gene with protein product - - - - HGNC - 25604 - - - Ensembl - ENSG00000146826 - - - SwissProt - Q8WVR3 - - - Reactome - Q8WVR3 - - - OMIM - 618350 - - - - - 7q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28892560[PMID] - - kinesin family member 14 - KIF14 - - KIAA0042 - - - gene with protein product - - - - ClinVar - KIF14 - - - Ensembl - ENSG00000118193 - - - Genatlas - KIF14 - - - HGNC - 19181 - - - OMIM - 611279 - - - Reactome - Q15058 - - - SwissProt - Q15058 - - - - - 1q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28257693[PMID] - - TATA-box binding protein associated factor 13 - TAF13 - - TAFII18 - Transcription initiation factor TFIID subunit 13 - - - gene with protein product - - - - ClinVar - TAF13 - - - HGNC - 11546 - - - Ensembl - ENSG00000197780 - - - OMIM - 600774 - - - SwissProt - Q15543 - - - Genatlas - TAF13 - - - Reactome - R-HSA-65557 - - - - - 1p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27860360[PMID] - - pyrroline-5-carboxylate reductase 2 - PYCR2 - - P5CR2 - - - gene with protein product - - - - HGNC - 30262 - - - Ensembl - ENSG00000143811 - - - OMIM - 616406 - - - SwissProt - Q96C36 - - - Genatlas - PYCR2 - - - Reactome - R-HSA-6783954 - - - ClinVar - PYCR2 - - - - - 1q42.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - CDK5 regulatory subunit associated protein 2 - CDK5RAP2 - - C48 - CEP215 - FLJ10867 - centrosomin - - - gene with protein product - - - - Ensembl - ENSG00000136861 - - - Genatlas - CDK5RAP2 - - - HGNC - 18672 - - - OMIM - 608201 - - - Reactome - Q96SN8 - - - SwissProt - Q96SN8 - - - ClinVar - CDK5RAP2 - - - - - 9q33.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - centrosome assembly and centriole elongation protein - CPAP - - BM032 - CPAP - LAP - LIP1 - SASS4 - SCKL4 - Sas-4 - centrosomal P4.1-associated protein - LAG-3-associated protein - Seckel syndrome 4 - Spindle assembly abnormal 4 - - - gene with protein product - - - - ClinVar - CENPJ - - - Ensembl - ENSG00000151849 - - - Genatlas - CENPJ - - - HGNC - 17272 - - - OMIM - 609279 - - - Reactome - Q9HC77 - - - SwissProt - Q9HC77 - - - - - 13q12.12-q12.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - assembly factor for spindle microtubules - ASPM - - ASP - Calmbp1 - FLJ10517 - FLJ10549 - - - gene with protein product - - - - ClinVar - ASPM - - - Reactome - Q8IZT6 - - - Genatlas - ASPM - - - HGNC - 19048 - - - OMIM - 605481 - - - SwissProt - Q8IZT6 - - - Ensembl - ENSG00000066279 - - - - - 1q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - microcephalin 1 - MCPH1 - - BRCT-repeat inhibitor of TERT expression 1 - BRIT1 - FLJ12847 - - - gene with protein product - - - - Ensembl - ENSG00000147316 - - - Genatlas - MCPH1 - - - HGNC - 6954 - - - OMIM - 607117 - - - Reactome - Q8NEM0 - - - SwissProt - Q8NEM0 - - - ClinVar - MCPH1 - - - - - 8p23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - STIL centriolar assembly protein - STIL - - MCPH7 - - - gene with protein product - - - - ClinVar - STIL - - - Reactome - Q15468 - - - Ensembl - ENSG00000123473 - - - Genatlas - STIL - - - HGNC - 10879 - - - OMIM - 181590 - - - SwissProt - Q15468 - - - - - 1p33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - WD repeat domain 62 - WDR62 - - DKFZP434J046 - FLJ33298 - - - gene with protein product - - - - Reactome - O43379 - - - ClinVar - WDR62 - - - Ensembl - ENSG00000075702 - - - Genatlas - WDR62 - - - HGNC - 24502 - - - OMIM - 613583 - - - SwissProt - O43379 - - - - - 19q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - centrosomal protein 152 - CEP152 - - MCPH9 - KIAA0912 - SCKL5 - asterless - - - gene with protein product - - - - Ensembl - ENSG00000103995 - - - Genatlas - CEP152 - - - HGNC - 29298 - - - OMIM - 613529 - - - Reactome - O94986 - - - SwissProt - O94986 - - - ClinVar - CEP152 - - - - - 15q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - centrosomal protein 63 - CEP63 - - FLJ13386 - - - gene with protein product - - - - ClinVar - CEP63 - - - Ensembl - ENSG00000182923 - - - Genatlas - CEP63 - - - HGNC - 25815 - - - OMIM - 614724 - - - Reactome - Q96MT8 - - - SwissProt - Q96MT8 - - - - - 3q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - centrosomal protein 135 - CEP135 - - FLJ13621 - - - gene with protein product - - - - Reactome - Q66GS9 - - - SwissProt - Q66GS9 - - - ClinVar - CEP135 - - - Ensembl - ENSG00000174799 - - - Genatlas - CEP135 - - - HGNC - 29086 - - - OMIM - 611423 - - - - - 4q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - kinetochore scaffold 1 - KNL1 - - AF15Q14 - CT29 - D40 - blinkin, bub-linking kinetochore protein - cancer/testis antigen 29 - hKNL-1 - hSpc105 - KIAA1570 - kinetochore null 1 homolog (C. elegans) - PPP1R55 - protein phosphatase 1, regulatory subunit 55 - Spc7 - - - gene with protein product - - - - Ensembl - ENSG00000137812 - - - Genatlas - CASC5 - - - HGNC - 24054 - - - OMIM - 609173 - - - Reactome - Q8NG31 - - - SwissProt - Q8NG31 - - - ClinVar - CASC5 - - - - - 15q15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - polyhomeotic homolog 1 - PHC1 - - HPH1 - RAE28 - - - gene with protein product - - - - Ensembl - ENSG00000111752 - - - Genatlas - PHC1 - - - ClinVar - PHC1 - - - HGNC - 3182 - - - OMIM - 602978 - - - Reactome - P78364 - - - SwissProt - P78364 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23918663[PMID] - - cyclin dependent kinase 6 - CDK6 - - PLSTIRE - - - gene with protein product - - - - ClinVar - CDK6 - - - Ensembl - ENSG00000105810 - - - Genatlas - CDK6 - - - HGNC - 1777 - - - IUPHAR - 1978 - - - OMIM - 603368 - - - Reactome - Q00534 - - - SwissProt - Q00534 - - - - - 7q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24951542[PMID] - - SAS-6 centriolar assembly protein - SASS6 - - DKFZp761A078 - FLJ22097 - SAS-6 - SAS6 - - - gene with protein product - - - - Ensembl - ENSG00000156876 - - - Genatlas - SASS6 - - - HGNC - 25403 - - - OMIM - 609321 - - - SwissProt - Q6UVJ0 - - - ClinVar - SASS6 - - - Reactome - Q6UVJ0 - - - - - 1p21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26005865[PMID]_26005868[PMID] - - MFSD2 lysolipid transporter A, lysophospholipid - MFSD2A - - sodium-dependent lysophosphatidylcholine symporter 1 - FLJ14490 - SLC59A1 - sodium-dependent LPC symporter 1 - - - gene with protein product - - - - Ensembl - ENSG00000168389 - - - Genatlas - MFSD2A - - - HGNC - 25897 - - - OMIM - 614397 - - - IUPHAR - 3041 - - - Reactome - Q8NA29 - - - ClinVar - MFSD2A - - - SwissProt - Q8NA29 - - - - - 1p34.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25259927[PMID] - - ankyrin repeat and LEM domain containing 2 - ANKLE2 - - LEM domain containing 7 - LEMD7 - Lem4 - LEM-domain protein 4 - - - gene with protein product - - - - ClinVar - ANKLE2 - - - Ensembl - ENSG00000176915 - - - Genatlas - ANKLE2 - - - HGNC - 29101 - - - OMIM - 616062 - - - Reactome - Q86XL3 - - - SwissProt - Q86XL3 - - - - - 12q24.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 171876 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171876 - Generalized pseudohypoaldosteronism type 1 - - Clinical subtype - - - Subtype of disorder - - - - 19571553[PMID]_23416952[PMID]_23762408[PMID] - - sodium channel epithelial 1 subunit alpha - SCNN1A - - amiloride-sensitive sodium channel subunit alpha - ENaCalpha - - - gene with protein product - - - - ClinVar - SCNN1A - - - Genatlas - SCNN1A - - - HGNC - 10599 - - - IUPHAR - 738 - - - OMIM - 600228 - - - Reactome - P37088 - - - SwissProt - P37088 - - - Ensembl - ENSG00000111319 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 19571553[PMID]_23426840[PMID] - - sodium channel epithelial 1 subunit beta - SCNN1B - - amiloride-sensitive sodium channel subunit beta - ENaCbeta - Liddle syndrome - - - gene with protein product - - - - ClinVar - SCNN1B - - - Ensembl - ENSG00000168447 - - - Genatlas - SCNN1B - - - HGNC - 10600 - - - IUPHAR - 739 - - - OMIM - 600760 - - - Reactome - P51168 - - - SwissProt - P51168 - - - - - 16p12.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 11231969[PMID]_19571553[PMID] - - sodium channel epithelial 1 subunit gamma - SCNN1G - - amiloride-sensitive sodium channel subunit gamma - ENaCgamma - SCNEG - - - gene with protein product - - - - ClinVar - SCNN1G - - - Ensembl - ENSG00000166828 - - - Genatlas - SCNN1G - - - HGNC - 10602 - - - IUPHAR - 741 - - - OMIM - 600761 - - - Reactome - P51170 - - - SwissProt - P51170 - - - - - 16p12.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 797 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=797 - Sarcoidosis - - Disease - - - Disorder - - - - 15735647[PMID] - - butyrophilin like 2 - BTNL2 - - BTL-II - BTN7 - HSBLMHC1 - - - gene with protein product - - - - Reactome - Q9UIR0 - - - Ensembl - ENSG00000204290 - - - Genatlas - BTNL2 - - - HGNC - 1142 - - - OMIM - 606000 - - - SwissProt - Q9UIR0 - - - ClinVar - BTNL2 - - - - - 6p21.32 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22991420[PMID] - - major histocompatibility complex, class II, DR beta 1 - HLA-DRB1 - - - - gene with protein product - - - - ClinVar - HLA-DRB1 - - - Ensembl - ENSG00000196126 - - - Genatlas - HLA-DRB1 - - - HGNC - 4948 - - - OMIM - 142857 - - - Reactome - P04229 - - - SwissProt - P01911 - - - - - 6p21.32 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 171829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829 - 6q16 microdeletion syndrome - - Disease - - - Disorder - - - - 24038875[PMID] - - SIM bHLH transcription factor 1 - SIM1 - - bHLHe14 - - - gene with protein product - - - - ClinVar - SIM1 - - - Ensembl - ENSG00000112246 - - - Genatlas - SIM1 - - - HGNC - 10882 - - - OMIM - 603128 - - - SwissProt - P81133 - - - - - 6q16.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 171851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171851 - MEDNIK syndrome - - Disease - - - Disorder - - - - 31630791[PMID] - - adaptor related protein complex 1 subunit beta 1 - AP1B1 - - BAM22 - AP105A - - - gene with protein product - - - - HGNC - 554 - - - Ensembl - ENSG00000100280 - - - SwissProt - Q10567 - - - Reactome - Q10567 - - - OMIM - 600157 - - - - - 22q12.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 19057675[PMID] - - adaptor related protein complex 1 subunit sigma 1 - AP1S1 - - AP-1 complex subunit sigma-1A - AP19 - HA1 19 kDa subunit - SIGMA1A - WUGSC:H_DJ0747G18.2 - clathrin assembly protein complex 1 sigma-1A small chain - clathrin coat assembly protein AP19 - clathrin-associated/assembly/adaptor protein, small 1 (19kD) - golgi adaptor HA1/AP1 adaptin sigma-1A subunit - sigma1A subunit of AP-1 clathrin adaptor complex - sigma1A-adaptin - - - gene with protein product - - - - Ensembl - ENSG00000106367 - - - Genatlas - AP1S1 - - - HGNC - 559 - - - OMIM - 603531 - - - Reactome - P61966 - - - SwissProt - P61966 - - - ClinVar - AP1S1 - - - - - 7q22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 171848 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171848 - Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome - - Disease - - - Disorder - - - - 20797687[PMID] - - abhydrolase domain containing 12, lysophospholipase - ABHD12 - - ABHD12A - BEM46L2 - DKFZP434P106 - dJ965G21.2 - - - gene with protein product - - - - IUPHAR - 3070 - - - ClinVar - ABHD12 - - - Ensembl - ENSG00000100997 - - - Genatlas - ABHD12 - - - HGNC - 15868 - - - OMIM - 613599 - - - Reactome - Q8N2K0 - - - SwissProt - Q8N2K0 - - - - - 20p11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3303 - Tetralogy of Fallot - - Malformation syndrome - - - Disorder - - - - 34113005[PMID] - - kinase insert domain receptor - KDR - - VEGFR2 - fetal liver kinase 1 - vascular endothelial growth factor receptor 2 - CD309 - FLK1 - VEGFR - - - gene with protein product - - - - Reactome - P35968 - - - SwissProt - P35968 - - - Ensembl - ENSG00000128052 - - - Genatlas - KDR - - - HGNC - 6307 - - - IUPHAR - 1813 - - - OMIM - 191306 - - - ClinVar - KDR - - - - - 4q12 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 24702427[PMID]_14517948[PMID] - - zinc finger protein, FOG family member 2 - ZFPM2 - - FOG2 - ZC2HC11B - ZNF89B - hFOG-2 - - - gene with protein product - - - - ClinVar - ZFPM2 - - - Ensembl - ENSG00000169946 - - - Genatlas - ZFPM2 - - - HGNC - 16700 - - - OMIM - 603693 - - - Reactome - Q8WW38 - - - SwissProt - Q8WW38 - - - - - 8q23 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 24000169[PMID] - - GATA binding protein 4 - GATA4 - - - - gene with protein product - - - - ClinVar - GATA4 - - - Ensembl - ENSG00000136574 - - - Genatlas - GATA4 - - - HGNC - 4173 - - - OMIM - 600576 - - - Reactome - P43694 - - - SwissProt - P43694 - - - - - 8p23.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 21893051[PMID] - - jagged canonical Notch ligand 1 - JAG1 - - AHD - AWS - CD339 - HJ1 - - - gene with protein product - - - - Ensembl - ENSG00000101384 - - - Genatlas - JAG1 - - - HGNC - 6188 - - - OMIM - 601920 - - - Reactome - P78504 - - - SwissProt - P78504 - - - ClinVar - JAG1 - - - - - 20p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29045289[PMID] - - NK2 homeobox 5 - NKX2-5 - - tinman paralog (Drosophila) - CSX1 - NKX2.5 - NKX4-1 - tinman (Drosophila) homolog - - - gene with protein product - - - - Reactome - P52952 - - - SwissProt - P52952 - - - Ensembl - ENSG00000183072 - - - Genatlas - NKX2-5 - - - HGNC - 2488 - - - OMIM - 600584 - - - ClinVar - NKX2-5 - - - - - 5q35.1 - 1 - - - - - Candidate gene tested in - - - Assessed - - - - 23289003[PMID] - - GATA binding protein 5 - GATA5 - - GATAS - bB379O24.1 - - - gene with protein product - - - - HGNC - 15802 - - - OMIM - 611496 - - - Reactome - Q9BWX5 - - - SwissProt - Q9BWX5 - - - Ensembl - ENSG00000130700 - - - Genatlas - GATA5 - - - ClinVar - GATA5 - - - - - 20q13.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22713807[PMID] - - gap junction protein alpha 5 - GJA5 - - CX40 - connexin 40 - - - gene with protein product - - - - IUPHAR - 726 - - - Ensembl - ENSG00000265107 - - - Genatlas - GJA5 - - - HGNC - 4279 - - - OMIM - 121013 - - - Reactome - P36382 - - - SwissProt - P36382 - - - ClinVar - GJA5 - - - - - 1q21.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 25195019[PMID] - - NK2 homeobox 6 - NKX2-6 - - CSX2 - NKX4-2 - tinman paralog (Drosophila) - tinman (Drosophila) homolog - - - gene with protein product - - - - ClinVar - NKX2-6 - - - Genatlas - NKX2-6 - - - HGNC - 32940 - - - OMIM - 611770 - - - SwissProt - A6NCS4 - - - Ensembl - ENSG00000180053 - - - - - 8p21.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - growth differentiation factor 1 - GDF1 - - - - gene with protein product - - - - ClinVar - GDF1 - - - SwissProt - P27539 - - - Ensembl - ENSG00000130283 - - - Genatlas - GDF1 - - - HGNC - 4214 - - - OMIM - 602880 - - - Reactome - P27539 - - - - - 19p13.11 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 - CITED2 - - MRG1 - - - gene with protein product - - - - ClinVar - CITED2 - - - Ensembl - ENSG00000164442 - - - Genatlas - CITED2 - - - HGNC - 1987 - - - OMIM - 602937 - - - Reactome - Q99967 - - - SwissProt - Q99967 - - - - - 6q24.1 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - 20581743[PMID] - - GATA binding protein 6 - GATA6 - - - - gene with protein product - - - - Ensembl - ENSG00000141448 - - - Genatlas - GATA6 - - - HGNC - 4174 - - - OMIM - 601656 - - - Reactome - Q92908 - - - SwissProt - Q92908 - - - ClinVar - GATA6 - - - - - 18q11.2 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - 30232381[PMID] - - fms related receptor tyrosine kinase 4 - FLT4 - - PCL - VEGFR3 - VEGF receptor-3 - VEGFR-3 - primary congenital lymphedema - vascular endothelial growth factor receptor 3 - Feline McDonough Sarcoma (FMS)-like tyrosine kinase 4 - - - gene with protein product - - - - Ensembl - ENSG00000037280 - - - Genatlas - FLT4 - - - HGNC - 3767 - - - IUPHAR - 1814 - - - OMIM - 136352 - - - Reactome - P35916 - - - SwissProt - P35916 - - - ClinVar - FLT4 - - - - - 5q35.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20937753[PMID] - - T-box transcription factor 1 - TBX1 - - CATCH22 - - - gene with protein product - - - - Ensembl - ENSG00000184058 - - - Genatlas - TBX1 - - - HGNC - 11592 - - - OMIM - 602054 - - - SwissProt - O43435 - - - ClinVar - TBX1 - - - - - 22q11.21 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 200418 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200418 - Immunodeficiency with factor I anomaly - - Disease - - - Disorder - - - - - - complement factor I - CFI - - C3b-INA - C3b-inactivator - FI - KAF - Konglutinogen-activating factor - - - gene with protein product - - - - OMIM - 217030 - - - Reactome - P05156 - - - SwissProt - P05156 - - - Ensembl - ENSG00000205403 - - - Genatlas - CFI - - - HGNC - 5394 - - - ClinVar - CFI - - - - - 4q25 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 730 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=730 - Autosomal dominant polycystic kidney disease - - Disease - - - Disorder - - - - 27259053[PMID] - - glucosidase II alpha subunit - GANAB - - G2AN - GIIA - GluII - KIAA0088 - neutral alpha-glucosidase AB - GIIalpha - - - gene with protein product - - - - HGNC - 4138 - - - OMIM - 104160 - - - ClinVar - GANAB - - - Genatlas - GANAB - - - SwissProt - Q14697 - - - Reactome - Q14697 - - - Ensembl - ENSG00000089597 - - - - - 11q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 37598857[PMID] - - NIMA related kinase 8 - NEK8 - - NPHP9 - - - gene with protein product - - - - ClinVar - NEK8 - - - Reactome - Q86SG6 - - - Ensembl - ENSG00000160602 - - - Genatlas - NEK8 - - - HGNC - 13387 - - - IUPHAR - 2123 - - - OMIM - 609799 - - - SwissProt - Q86SG6 - - - - - 17q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31395617[PMID] - - ALG9 alpha-1,2-mannosyltransferase - ALG9 - - dol-P-Man dependent alpha-1,2-mannosyltransferase - dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase - dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase - - - gene with protein product - - - - Ensembl - ENSG00000086848 - - - Genatlas - ALG9 - - - HGNC - 15672 - - - OMIM - 606941 - - - Reactome - Q9H6U8 - - - SwissProt - Q9H6U8 - - - ClinVar - ALG9 - - - - - 11q23.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 29706351[PMID] - - DnaJ heat shock protein family (Hsp40) member B11 - DNAJB11 - - EDJ - HEDJ - ERdj3 - - - gene with protein product - - - - HGNC - 14889 - - - Ensembl - ENSG00000090520 - - - SwissProt - Q9UBS4 - - - Reactome - Q9UBS4 - - - OMIM - 611341 - - - - - 3q27.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 35896117[PMID] - - ALG5 dolichyl-phosphate beta-glucosyltransferase - ALG5 - - bA421P11.2 - - - gene with protein product - - - - HGNC - 20266 - - - Ensembl - ENSG00000120697 - - - SwissProt - Q9Y673 - - - Reactome - Q9Y673 - - - OMIM - 604565 - - - - - 13q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301424[PMID] - - polycystin 1, transient receptor potential channel interacting - PKD1 - - PBP - Pc-1 - TRPP1 - polycystin 1 - transient receptor potential cation channel, subfamily P, member 1 - - - gene with protein product - - - - Ensembl - ENSG00000008710 - - - Genatlas - PKD1 - - - HGNC - 9008 - - - OMIM - 601313 - - - Reactome - P98161 - - - SwissProt - P98161 - - - ClinVar - PKD1 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301424[PMID] - - polycystin 2, transient receptor potential cation channel - PKD2 - - PC2 - PKD4 - Pc-2 - TRPP2 - transient receptor potential cation channel, subfamily P, member 2 - - - gene with protein product - - - - Ensembl - ENSG00000118762 - - - Genatlas - PKD2 - - - HGNC - 9009 - - - IUPHAR - 504 - - - OMIM - 173910 - - - Reactome - Q13563 - - - SwissProt - Q13563 - - - ClinVar - PKD2 - - - - - 4q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21922595[PMID] - - BicC family RNA binding protein 1 - BICC1 - - - - gene with protein product - - - - ClinVar - BICC1 - - - Ensembl - ENSG00000122870 - - - Genatlas - BICC1 - - - HGNC - 19351 - - - OMIM - 614295 - - - SwissProt - Q9H694 - - - - - 10q21.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 34890546[PMID] - - intraflagellar transport 140 - IFT140 - - KIAA0590 - gs114 - - - gene with protein product - - - - Ensembl - ENSG00000187535 - - - Genatlas - IFT140 - - - HGNC - 29077 - - - OMIM - 614620 - - - Reactome - Q96RY7 - - - SwissProt - Q96RY7 - - - ClinVar - IFT140 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 200421 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200421 - Immunodeficiency with factor H anomaly - - Disease - - - Disorder - - - - - - complement factor H - CFH - - ARMD4 - ARMS1 - FHL1 - H factor 2 (complement) - HUS - age-related maculopathy susceptibility 1 - beta-1H - - - gene with protein product - - - - Ensembl - ENSG00000000971 - - - Genatlas - CFH - - - HGNC - 4883 - - - OMIM - 134370 - - - Reactome - P08603 - - - SwissProt - P08603 - - - ClinVar - CFH - - - - - 1q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 486 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486 - Autosomal dominant severe congenital neutropenia - - Disease - - - Disorder - - - - 24753205[PMID] - - T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 - TCIRG1 - - ATP6N1C - ATP6V0A3 - Atp6i - OC-116 - OC116 - T-cell immune response cDNA 7 - TIRC7 - a3 - V-ATPase subunit a3 - - - gene with protein product - - - - Ensembl - ENSG00000110719 - - - Genatlas - TCIRG1 - - - HGNC - 11647 - - - OMIM - 604592 - - - Reactome - Q13488 - - - SwissProt - Q13488 - - - ClinVar - TCIRG1 - - - IUPHAR - 825 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - elastase, neutrophil expressed - ELANE - - HLE - HNE - NE - leukocyte elastase - medullasin - neutrophil elastase - polymorphonuclear leukocyte elastase - PMN Elastase - PMN-E - - - gene with protein product - - - - ClinVar - ELANE - - - Ensembl - ENSG00000197561 - - - Genatlas - ELANE - - - HGNC - 3309 - - - IUPHAR - 2358 - - - OMIM - 130130 - - - Reactome - P08246 - - - SwissProt - P08246 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12778173[PMID] - - growth factor independent 1 transcriptional repressor - GFI1 - - GFI-1 - GFI1A - - - gene with protein product - - - - ClinVar - GFI1 - - - Reactome - Q99684 - - - Ensembl - ENSG00000162676 - - - Genatlas - GFI1 - - - HGNC - 4237 - - - OMIM - 600871 - - - SwissProt - Q99684 - - - - - 1p22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34115842[PMID] - - ClpB family mitochondrial disaggregase - CLPB - - FLJ13152 - SKD3 - ankyrin-repeat containing bacterial clp fusion - suppressor of potassium transport defect 3 - ANKCLP - - - gene with protein product - - - - ClinVar - CLPB - - - Ensembl - ENSG00000162129 - - - Genatlas - CLPB - - - HGNC - 30664 - - - OMIM - 616254 - - - SwissProt - Q9H078 - - - - - 11q13.4 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 36223592[PMID] - - signal recognition particle 19 - SRP19 - - - - gene with protein product - - - - HGNC - 11300 - - - Ensembl - ENSG00000153037 - - - OMIM - 182175 - - - SwissProt - P09132 - - - - - 5q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98 - Autosomal recessive spastic ataxia of Charlevoix-Saguenay - - Disease - - - Disorder - - - - 20301432[PMID] - - sacsin molecular chaperone - SACS - - ARSACS - DKFZp686B15167 - DNAJC29 - KIAA0730 - PPP1R138 - SPAX6 - protein phosphatase 1, regulatory subunit 138 - - - gene with protein product - - - - ClinVar - SACS - - - Ensembl - ENSG00000151835 - - - Genatlas - SACS - - - HGNC - 10519 - - - OMIM - 604490 - - - SwissProt - Q9NZJ4 - - - - - 13q12.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330 - Congenital factor XII deficiency - - Disease - - - Disorder - - - - 20386432[PMID]_22043782[PMID] - - coagulation factor XII - F12 - - Plasma coagulation Factor XIIa - - - gene with protein product - - - - Ensembl - ENSG00000131187 - - - Genatlas - F12 - - - HGNC - 3530 - - - IUPHAR - 2361 - - - OMIM - 610619 - - - Reactome - P00748 - - - ClinVar - F12 - - - SwissProt - P00748 - - - - - 5q35.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 828 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=828 - Stickler syndrome - - Disease - - - Disorder - - - - 30568244[PMID] - - bone morphogenetic protein 4 - BMP4 - - - - gene with protein product - - - - Ensembl - ENSG00000125378 - - - Genatlas - BMP4 - - - HGNC - 1071 - - - OMIM - 112262 - - - Reactome - P12644 - - - SwissProt - P12644 - - - ClinVar - BMP4 - - - - - 14q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 199340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199340 - Muscular dystrophy, Selcen type - - Disease - - - Disorder - - - - 19085932[PMID] - - BAG cochaperone 3 - BAG3 - - BAG family molecular chaperone regulator 3 - - - gene with protein product - - - - Ensembl - ENSG00000151929 - - - Genatlas - BAG3 - - - HGNC - 939 - - - OMIM - 603883 - - - Reactome - O95817 - - - SwissProt - O95817 - - - ClinVar - BAG3 - - - - - 10q26.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 199337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199337 - Pancreatic insufficiency-anemia-hyperostosis syndrome - - Disease - - - Disorder - - - - - - cytochrome c oxidase subunit 4I2 - COX4I2 - - COX4-2 - COX4B - COXIV-2 - cytochrome c oxidase subunit IV-like 2 - dJ857M17.2 - - - gene with protein product - - - - Ensembl - ENSG00000131055 - - - Genatlas - COX4I2 - - - HGNC - 16232 - - - OMIM - 607976 - - - SwissProt - Q96KJ9 - - - ClinVar - COX4I2 - - - - - 20q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=234 - Dubin-Johnson syndrome - - Disease - - - Disorder - - - - - - ATP binding cassette subfamily C member 2 - ABCC2 - - DJS - MRP2 - cMRP - - - gene with protein product - - - - ClinVar - ABCC2 - - - IUPHAR - 780 - - - Ensembl - ENSG00000023839 - - - Genatlas - ABCC2 - - - HGNC - 53 - - - OMIM - 601107 - - - Reactome - Q92887 - - - SwissProt - Q92887 - - - - - 10q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 199348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199348 - Thiamine-responsive encephalopathy - - Disease - - - Disorder - - - - 19387023[PMID] - - solute carrier family 19 member 3 - SLC19A3 - - THTR2 - thiamine transporter 2 - hTHTR2 - thTr-2 - - - gene with protein product - - - - SwissProt - Q9BZV2 - - - Ensembl - ENSG00000135917 - - - Genatlas - SLC19A3 - - - HGNC - 16266 - - - OMIM - 606152 - - - Reactome - Q9BZV2 - - - ClinVar - SLC19A3 - - - IUPHAR - 1016 - - - - - 2q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3287 - Takayasu arteritis - - Disease - - - Disorder - - - - 23830516[PMID]_23830507[PMID] - - major histocompatibility complex, class I, B - HLA-B - - - - gene with protein product - - - - ClinVar - HLA-B - - - Ensembl - ENSG00000234745 - - - Genatlas - HLA-B - - - HGNC - 4932 - - - OMIM - 142830 - - - SwissProt - P01889 - - - Reactome - P30486 - - - - - 6p21.33 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23830516[PMID]_23830507[PMID] - - interleukin 12B - IL12B - - CLMF - CLMF2 - IL-12B - IL12, subunit p40 - NKSF - cytotoxic lymphocyte maturation factor 2, p40 - interleukin 12, p40 - interleukin-12 beta chain - natural killer cell stimulatory factor, 40 kD subunit - natural killer cell stimulatory factor-2 - - - gene with protein product - - - - Reactome - P29460 - - - ClinVar - IL12B - - - Genatlas - IL12B - - - HGNC - 5970 - - - OMIM - 161561 - - - SwissProt - P29460 - - - Ensembl - ENSG00000113302 - - - - - 5q33.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23830516[PMID]_23830507[PMID] - - MAX dimerization protein MLX - MLX - - MAD7 - MXD7 - bHLHd13 - - - gene with protein product - - - - Ensembl - ENSG00000108788 - - - Genatlas - MLX - - - HGNC - 11645 - - - OMIM - 602976 - - - Reactome - Q9UH92 - - - SwissProt - Q9UH92 - - - ClinVar - MLX - - - - - 17q21.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 199343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199343 - EAST syndrome - - Disease - - - Disorder - - - - 19289823[PMID]_20301317[PMID] - - potassium inwardly rectifying channel subfamily J member 10 - KCNJ10 - - Kir1.2 - Kir4.1 - - - gene with protein product - - - - ClinVar - KCNJ10 - - - Ensembl - ENSG00000177807 - - - Genatlas - KCNJ10 - - - HGNC - 6256 - - - IUPHAR - 438 - - - OMIM - 602208 - - - Reactome - P78508 - - - SwissProt - P78508 - - - - - 1q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2800 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2800 - Extramammary Paget disease - - Disease - - - Disorder - - - - 31860417[PMID] - - erb-b2 receptor tyrosine kinase 2 - ERBB2 - - HER2 - NEU - HER-2 - CD340 - neuro/glioblastoma derived oncogene homolog - human epidermal growth factor receptor 2 - metastatic lymph node gene 19 - c-ERB-2 - p185(erbB2) - MLN-19 - c-ERB2 - - - gene with protein product - - - - SwissProt - P04626 - - - ClinVar - ERBB2 - - - OMIM - 164870 - - - IUPHAR - 2019 - - - Ensembl - ENSG00000141736 - - - Genatlas - ERBB2 - - - HGNC - 3430 - - - - - 17q12 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 199326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199326 - Isolated autosomal dominant hypomagnesemia, Glaudemans type - - Disease - - - Disorder - - - - 19307729[PMID] - - potassium voltage-gated channel subfamily A member 1 - KCNA1 - - HUK1 - Kv1.1 - MBK1 - RBK1 - - - gene with protein product - - - - Ensembl - ENSG00000111262 - - - Genatlas - KCNA1 - - - HGNC - 6218 - - - IUPHAR - 538 - - - OMIM - 176260 - - - Reactome - Q09470 - - - SwissProt - Q09470 - - - ClinVar - KCNA1 - - - - - 12p13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 199332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199332 - Endocrine-cerebro-osteodysplasia syndrome - - Malformation syndrome - - - Disorder - - - - 19185282[PMID] - - ciliogenesis associated kinase 1 - CILK1 - - KIAA0936 - LCK2 - MGC46090 - MRK - MAK-related kinase - serine/threonine-protein kinase ICK - - - gene with protein product - - - - Reactome - Q9UPZ9 - - - SwissProt - Q9UPZ9 - - - Ensembl - ENSG00000112144 - - - Genatlas - ICK - - - HGNC - 21219 - - - IUPHAR - 2038 - - - OMIM - 612325 - - - ClinVar - ICK - - - - - 6p12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 199329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199329 - Congenital myopathy, Paradas type - - Disease - - - Disorder - - - - 19084402[PMID] - - dysferlin - DYSF - - FER1L1 - fer-1-like family member 1 - - - gene with protein product - - - - Ensembl - ENSG00000135636 - - - Genatlas - DYSF - - - HGNC - 3097 - - - OMIM - 603009 - - - Reactome - O75923 - - - SwissProt - O75923 - - - ClinVar - DYSF - - - - - 2p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2665 - Congenital mesoblastic nephroma - - Disease - - - Disorder - - - - 12165445[PMID]_16681692[PMID] - - ETS variant transcription factor 6 - ETV6 - - TEL - TEL oncogene - - - gene with protein product - - - - Reactome - P41212 - - - Ensembl - ENSG00000139083 - - - Genatlas - ETV6 - - - HGNC - 3495 - - - OMIM - 600618 - - - SwissProt - P41212 - - - ClinVar - ETV6 - - - - - 12p13.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 12165445[PMID]_16681692[PMID] - - neurotrophic receptor tyrosine kinase 3 - NTRK3 - - TRKC - - - gene with protein product - - - - Ensembl - ENSG00000140538 - - - Genatlas - NTRK3 - - - HGNC - 8033 - - - IUPHAR - 1819 - - - OMIM - 191316 - - - SwissProt - Q16288 - - - Reactome - Q16288 - - - ClinVar - NTRK3 - - - - - 15q25.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 3463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3463 - Wolfram syndrome - - Disease - - - Disorder - - - - 16806192[PMID]_12913071[PMID] - - wolframin ER transmembrane glycoprotein - WFS1 - - DIDMOAD - WFS - - - gene with protein product - - - - ClinVar - WFS1 - - - Ensembl - ENSG00000109501 - - - Genatlas - WFS1 - - - HGNC - 12762 - - - OMIM - 606201 - - - Reactome - O76024 - - - SwissProt - O76024 - - - - - 4p16.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - CDGSH iron sulfur domain 2 - CISD2 - - ERIS - Miner1 - NAF-1 - endoplasmic reticulum intermembrane small protein - mitoNEET related 1 - nutrient-deprivation autophagy factor-1 - - - gene with protein product - - - - Reactome - Q8N5K1 - - - Ensembl - ENSG00000145354 - - - Genatlas - CISD2 - - - HGNC - 24212 - - - OMIM - 611507 - - - SwissProt - Q8N5K1 - - - ClinVar - CISD2 - - - - - 4q24 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 199354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199354 - Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy - - Disease - - - Disorder - - - - 20437615[PMID]_22900900[PMID]_21482952[PMID]_21115960[PMID]_19387015[PMID] - - HtrA serine peptidase 1 - HTRA1 - - ARMD7 - HtrA - IGFBP5-protease - - - gene with protein product - - - - ClinVar - HTRA1 - - - Ensembl - ENSG00000166033 - - - Genatlas - HTRA1 - - - HGNC - 9476 - - - OMIM - 602194 - - - SwissProt - Q92743 - - - IUPHAR - 3194 - - - Reactome - Q92743 - - - - - 10q26.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 199351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199351 - Adult-onset dystonia-parkinsonism - - Disease - - - Disorder - - - - - - phospholipase A2 group VI - PLA2G6 - - NBIA2 - Neurodegeneration with brain iron accumulation 2 - PARK14 - PNPLA9 - iPLA2 - iPLA2beta - neurodegeneration with brain iron accumulation 2 - - - gene with protein product - - - - IUPHAR - 1431 - - - Genatlas - PLA2G6 - - - HGNC - 9039 - - - OMIM - 603604 - - - Reactome - O60733 - - - SwissProt - O60733 - - - Ensembl - ENSG00000184381 - - - ClinVar - PLA2G6 - - - - - 22q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356 - Gerstmann-Straussler-Scheinker syndrome - - Disease - - - Disorder - - - - 20301407[PMID] - - prion protein (Kanno blood group) - PRNP - - AltPrP - CD230 - Creutzfeldt-Jakob disease - Gerstmann-Strausler-Scheinker syndrome - PRP - fatal familial insomnia - p27-30 - - - gene with protein product - - - - ClinVar - PRNP - - - Ensembl - ENSG00000171867 - - - Genatlas - PRNP - - - HGNC - 9449 - - - OMIM - 176640 - - - Reactome - P04156 - - - SwissProt - P04156 - - - - - 20p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466 - Fatal familial insomnia - - Disease - - - Disorder - - - - 20301407[PMID] - - prion protein (Kanno blood group) - PRNP - - AltPrP - CD230 - Creutzfeldt-Jakob disease - Gerstmann-Strausler-Scheinker syndrome - PRP - fatal familial insomnia - p27-30 - - - gene with protein product - - - - ClinVar - PRNP - - - Ensembl - ENSG00000171867 - - - Genatlas - PRNP - - - HGNC - 9449 - - - OMIM - 176640 - - - Reactome - P04156 - - - SwissProt - P04156 - - - - - 20p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3452 - Whipple disease - - Disease - - - Disorder - - - - 29537367[PMID] - - interferon regulatory factor 4 - IRF4 - - LSIRF - - - gene with protein product - - - - ClinVar - IRF4 - - - HGNC - 6119 - - - Reactome - Q15306 - - - SwissProt - Q15306 - - - Ensembl - ENSG00000137265 - - - Genatlas - IRF4 - - - OMIM - 601900 - - - - - 6p25.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 199285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199285 - Hereditary hypercarotenemia and vitamin A deficiency - - Disease - - - Disorder - - - - 17951468[PMID] - - beta-carotene oxygenase 1 - BCO1 - - BCMO - FLJ10730 - - - gene with protein product - - - - Ensembl - ENSG00000135697 - - - Genatlas - BCMO1 - - - HGNC - 13815 - - - OMIM - 605748 - - - Reactome - Q9HAY6 - - - SwissProt - Q9HAY6 - - - ClinVar - BCMO1 - - - - - 16q23.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2102 - GTP cyclohydrolase I deficiency - - Clinical subtype - - - Subtype of disorder - - - - - - GTP cyclohydrolase 1 - GCH1 - - DYT5a - GTPCH1 - dopa-responsive dystonia - GTP cyclohydrolase I - - - gene with protein product - - - - ClinVar - GCH1 - - - Ensembl - ENSG00000131979 - - - Genatlas - GCH1 - - - HGNC - 4193 - - - OMIM - 600225 - - - Reactome - P30793 - - - SwissProt - P30793 - - - - - 14q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3002 - Immune thrombocytopenia - - Disease - - - Disorder - - - - 17827395[PMID] - - Fc gamma receptor IIc (gene/pseudogene) - FCGR2C - - FcgammaRIIc - CD32C - Fc gamma receptor IIc - hFcRII-C - Fc-gamma-RIIc - - - gene with protein product - - - - HGNC - 15626 - - - SwissProt - P31995 - - - Ensembl - ENSG00000244682 - - - OMIM - 612169 - - - Genatlas - FCGR2C - - - ClinVar - FCGR2C - - - - - 1q23.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 199318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199318 - 15q13.3 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - 22775350[PMID] - - cholinergic receptor nicotinic alpha 7 subunit - CHRNA7 - - acetylcholine receptor, nicotinic, alpha 7 (neuronal) - - - gene with protein product - - - - ClinVar - CHRNA7 - - - Ensembl - ENSG00000175344 - - - Genatlas - CHRNA7 - - - HGNC - 1960 - - - IUPHAR - 468 - - - OMIM - 118511 - - - Reactome - P36544 - - - SwissProt - P36544 - - - - - 15q13.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=274 - Bernard-Soulier syndrome - - Disease - - - Disorder - - - - 22886561[PMID] - - glycoprotein Ib platelet subunit alpha - GP1BA - - CD42b - GPIbalpha - platelet glycoprotein Ib alpha chain - - - gene with protein product - - - - ClinVar - GP1BA - - - Ensembl - ENSG00000185245 - - - Genatlas - GP1BA - - - HGNC - 4439 - - - OMIM - 606672 - - - Reactome - P07359 - - - SwissProt - P07359 - - - - - 17p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22886561[PMID] - - glycoprotein Ib platelet subunit beta - GP1BB - - CD42c - GPIbbeta - platelet glycoprotein Ib beta chain - - - gene with protein product - - - - ClinVar - GP1BB - - - Ensembl - ENSG00000203618 - - - Genatlas - GP1BB - - - HGNC - 4440 - - - OMIM - 138720 - - - Reactome - P13224 - - - SwissProt - P13224 - - - - - 22q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22886561[PMID] - - glycoprotein IX platelet - GP9 - - CD42a - GPIX - platelet glycoprotein IX - - - gene with protein product - - - - ClinVar - GP9 - - - Ensembl - ENSG00000169704 - - - Genatlas - GP9 - - - HGNC - 4444 - - - OMIM - 173515 - - - Reactome - P14770 - - - SwissProt - P14770 - - - - - 3q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1195 - Congenital atransferrinemia - - Disease - - - Disorder - - - - - - transferrin - TF - - PRO1557 - PRO2086 - serotransferrin - - - gene with protein product - - - - Ensembl - ENSG00000091513 - - - Genatlas - TF - - - HGNC - 11740 - - - OMIM - 190000 - - - Reactome - P02787 - - - SwissProt - P02787 - - - ClinVar - TF - - - - - 3q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 199302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199302 - Isolated cleft lip - - Morphological anomaly - - - Disorder - - - - 16740912[PMID]_21567929[PMID] - - tumor protein p63 - TP63 - - NBP - OFC8 - SHFM4 - p51 - p53CP - p63 - p73H - p73L - p40 - EEC3 - KET - - - gene with protein product - - - - Ensembl - ENSG00000073282 - - - Genatlas - TP63 - - - HGNC - 15979 - - - OMIM - 603273 - - - Reactome - Q9H3D4 - - - SwissProt - Q9H3D4 - - - ClinVar - TP63 - - - - - 3q28 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 17438386[PMID] - - interferon regulatory factor 6 - IRF6 - - OFC6 - VWS1 - - - gene with protein product - - - - ClinVar - IRF6 - - - Ensembl - ENSG00000117595 - - - Genatlas - IRF6 - - - HGNC - 6121 - - - OMIM - 607199 - - - Reactome - O14896 - - - SwissProt - O14896 - - - - - 1q32.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 16674562[PMID] - - nectin cell adhesion molecule 1 - NECTIN1 - - Nectin-1 - CLPED1 - HIgR - OFC7 - PRR - PRR1 - PVRR1 - SK-12 - nectin - CD111 - - - gene with protein product - - - - ClinVar - NECTIN1 - - - Ensembl - ENSG00000110400 - - - Genatlas - PVRL1 - - - HGNC - 9706 - - - OMIM - 600644 - - - Reactome - Q15223 - - - SwissProt - Q15223 - - - - - 11q23.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 12807959[PMID] - - msh homeobox 1 - MSX1 - - HYD1 - OFC5 - - - gene with protein product - - - - ClinVar - MSX1 - - - HGNC - 7391 - - - OMIM - 142983 - - - SwissProt - P28360 - - - Ensembl - ENSG00000163132 - - - Genatlas - MSX1 - - - - - 4p16.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 199306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199306 - Cleft lip/palate - - Morphological anomaly - - - Disorder - - - - 27350171[PMID] - - Rho GTPase activating protein 29 - ARHGAP29 - - PARG1 - - - gene with protein product - - - - HGNC - 30207 - - - Ensembl - ENSG00000137962 - - - SwissProt - Q52LW3 - - - OMIM - 610496 - - - Genatlas - ARHGAP29 - - - Reactome - Q52LW3 - - - ClinVar - ARHGAP29 - - - - - 1p22.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 16740912[PMID]_21567929[PMID] - - tumor protein p63 - TP63 - - NBP - OFC8 - SHFM4 - p51 - p53CP - p63 - p73H - p73L - p40 - EEC3 - KET - - - gene with protein product - - - - Ensembl - ENSG00000073282 - - - Genatlas - TP63 - - - HGNC - 15979 - - - OMIM - 603273 - - - Reactome - Q9H3D4 - - - SwissProt - Q9H3D4 - - - ClinVar - TP63 - - - - - 3q28 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22978696[PMID] - - bone morphogenetic protein 4 - BMP4 - - - - gene with protein product - - - - Ensembl - ENSG00000125378 - - - Genatlas - BMP4 - - - HGNC - 1071 - - - OMIM - 112262 - - - Reactome - P12644 - - - SwissProt - P12644 - - - ClinVar - BMP4 - - - - - 14q22.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 36493769[PMID] - - cordon-bleu WH2 repeat protein like 1 - COBLL1 - - KIAA0977 - - - gene with protein product - - - - HGNC - 23571 - - - Ensembl - ENSG00000082438 - - - OMIM - 610318 - - - SwissProt - Q53SF7 - - - - - 2q24.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 36493769[PMID] - - RIC1 homolog, RAB6A GEF complex partner 1 - RIC1 - - bA207C16.1 - - - gene with protein product - - - - SwissProt - Q4ADV7 - - - HGNC - 17686 - - - Ensembl - ENSG00000107036 - - - OMIM - 610354 - - - - - 9p24.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 16674562[PMID] - - nectin cell adhesion molecule 1 - NECTIN1 - - Nectin-1 - CLPED1 - HIgR - OFC7 - PRR - PRR1 - PVRR1 - SK-12 - nectin - CD111 - - - gene with protein product - - - - ClinVar - NECTIN1 - - - Ensembl - ENSG00000110400 - - - Genatlas - PVRL1 - - - HGNC - 9706 - - - OMIM - 600644 - - - Reactome - Q15223 - - - SwissProt - Q15223 - - - - - 11q23.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 36493769[PMID] - - Rho guanine nucleotide exchange factor 38 - ARHGEF38 - - FLJ20184 - - - gene with protein product - - - - HGNC - 25968 - - - Ensembl - ENSG00000236699 - - - OMIM - 619919 - - - SwissProt - Q9NXL2 - - - - - 4q24 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23197654[PMID] - - cadherin 1 - CDH1 - - CD324 - E-Cadherin - uvomorulin - - - gene with protein product - - - - Ensembl - ENSG00000039068 - - - Genatlas - CDH1 - - - HGNC - 1748 - - - OMIM - 192090 - - - Reactome - P12830 - - - SwissProt - P12830 - - - ClinVar - CDH1 - - - - - 16q22.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 17438386[PMID] - - interferon regulatory factor 6 - IRF6 - - OFC6 - VWS1 - - - gene with protein product - - - - ClinVar - IRF6 - - - Ensembl - ENSG00000117595 - - - Genatlas - IRF6 - - - HGNC - 6121 - - - OMIM - 607199 - - - Reactome - O14896 - - - SwissProt - O14896 - - - - - 1q32.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 35147171[PMID] - - platelet derived growth factor receptor alpha - PDGFRA - - CD140a - GAS9 - PDGFR2 - - - gene with protein product - - - - Ensembl - ENSG00000134853 - - - Genatlas - PDGFRA - - - HGNC - 8803 - - - IUPHAR - 1803 - - - OMIM - 173490 - - - Reactome - P16234 - - - SwissProt - P16234 - - - ClinVar - PDGFRA - - - - - 4q12 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 12807959[PMID] - - msh homeobox 1 - MSX1 - - HYD1 - OFC5 - - - gene with protein product - - - - ClinVar - MSX1 - - - HGNC - 7391 - - - OMIM - 142983 - - - SwissProt - P28360 - - - Ensembl - ENSG00000163132 - - - Genatlas - MSX1 - - - - - 4p16.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 28926086[PMID] - - discs large MAGUK scaffold protein 1 - DLG1 - - SAP-97 - dJ1061C18.1.1 - hdlg - DLGH1 - SAP97 - discs large homolog 1 - presynaptic protein SAP97 - synapse-associated protein 97 - - - gene with protein product - - - - SwissProt - Q12959 - - - OMIM - 601014 - - - Ensembl - ENSG00000075711 - - - Genatlas - DLG1 - - - Reactome - Q12959 - - - HGNC - 2900 - - - ClinVar - DLG1 - - - - - 3q29 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 25954033[PMID] - - distal-less homeobox 4 - DLX4 - - BP1 - DLX8 - - - gene with protein product - - - - Reactome - Q92988 - - - HGNC - 2917 - - - OMIM - 601911 - - - Genatlas - DLX4 - - - SwissProt - Q92988 - - - Ensembl - ENSG00000108813 - - - ClinVar - DLX4 - - - - - 17q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=926 - Acatalasemia - - Disease - - - Disorder - - - - 11001624[PMID] - - catalase - CAT - - - - gene with protein product - - - - Ensembl - ENSG00000121691 - - - Genatlas - CAT - - - HGNC - 1516 - - - OMIM - 115500 - - - Reactome - P04040 - - - SwissProt - P04040 - - - IUPHAR - 2979 - - - ClinVar - CAT - - - - - 11p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 199296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199296 - Congenital isolated ACTH deficiency - - Disease - - - Disorder - - - - 15476446[PMID]_15613420[PMID] - - T-box transcription factor 19 - TBX19 - - TBS 19 - TPIT - dj747L4.1 - - - gene with protein product - - - - Ensembl - ENSG00000143178 - - - Genatlas - TBX19 - - - HGNC - 11596 - - - OMIM - 604614 - - - SwissProt - O60806 - - - ClinVar - TBX19 - - - Reactome - O60806 - - - - - 1q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1675 - Dihydropyrimidine dehydrogenase deficiency - - Disease - - - Disorder - - - - - - dihydropyrimidine dehydrogenase - DPYD - - DPD - DHPDHase - Dihydrouracil dehydrogenase - Dihydrothymine dehydrogenase - - - gene with protein product - - - - ClinVar - DPYD - - - Ensembl - ENSG00000188641 - - - Genatlas - DPYD - - - HGNC - 3012 - - - OMIM - 612779 - - - Reactome - Q12882 - - - SwissProt - Q12882 - - - IUPHAR - 3102 - - - - - 1p21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 189427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189427 - Cushing syndrome due to bilateral macronodular adrenocortical disease - - Disease - - - Disorder - - - - 34906447[PMID] - - lysine demethylase 1A - KDM1A - - BHC110 - KIAA0601 - LSD1 - Lysine-specific histone demethylase 1A - - - gene with protein product - - - - HGNC - 29079 - - - Genatlas - KDM1A - - - SwissProt - O60341 - - - Reactome - O60341 - - - OMIM - 609132 - - - Ensembl - ENSG00000004487 - - - IUPHAR - 2669 - - - ClinVar - KDM1A - - - - - 1p36.12 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 12727968[PMID] - - GNAS complex locus - GNAS - - G protein subunit alpha S - GNASXL - GPSA - NESP - NESP55 - SCG6 - SgVI - secretogranin VI - - - gene with protein product - - - - ClinVar - GNAS - - - SwissProt - P63092 - - - SwissProt - P84996 - - - SwissProt - Q5JWF2 - - - Ensembl - ENSG00000087460 - - - Genatlas - GNAS - - - HGNC - 4392 - - - OMIM - 139320 - - - Reactome - P63092 - - - SwissProt - O95467 - - - - - 20q13.32 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 24283224[PMID] - - armadillo repeat containing 5 - ARMC5 - - FLJ13063 - - - gene with protein product - - - - ClinVar - ARMC5 - - - Reactome - Q96C12 - - - Ensembl - ENSG00000140691 - - - Genatlas - ARMC5 - - - HGNC - 25781 - - - OMIM - 615549 - - - SwissProt - Q96C12 - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=976 - Adenine phosphoribosyltransferase deficiency - - Disease - - - Disorder - - - - 22934314[PMID]_22700886[PMID] - - adenine phosphoribosyltransferase - APRT - - - - gene with protein product - - - - Ensembl - ENSG00000198931 - - - Genatlas - APRT - - - HGNC - 626 - - - OMIM - 102600 - - - Reactome - P07741 - - - SwissProt - P07741 - - - ClinVar - APRT - - - - - 16q24.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 3129 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3129 - Sarcosinemia - - Disease - - - Disorder - - - - 22825317[PMID] - - sarcosine dehydrogenase - SARDH - - SDH - - - gene with protein product - - - - Reactome - Q9UL12 - - - ClinVar - SARDH - - - Genatlas - SARDH - - - HGNC - 10536 - - - OMIM - 604455 - - - SwissProt - Q9UL12 - - - Ensembl - ENSG00000123453 - - - - - 9q34.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=415 - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - - Disease - - - Disorder - - - - 22649802[PMID] - - solute carrier family 25 member 15 - SLC25A15 - - ornithine transporter 1 - D13S327 - ORC1 - lnc-HC - ornithine carrier 1 - Mitochondrial ornithine transporter 1 - - - gene with protein product - - - - IUPHAR - 1060 - - - Ensembl - ENSG00000102743 - - - Genatlas - SLC25A15 - - - HGNC - 10985 - - - OMIM - 603861 - - - Reactome - Q9Y619 - - - SwissProt - Q9Y619 - - - ClinVar - SLC25A15 - - - - - 13q14.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 13 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=13 - 6-pyruvoyl-tetrahydropterin synthase deficiency - - Clinical subtype - - - Subtype of disorder - - - - - - 6-pyruvoyltetrahydropterin synthase - PTS - - PTPS - - - gene with protein product - - - - ClinVar - PTS - - - Ensembl - ENSG00000150787 - - - Genatlas - PTS - - - HGNC - 9689 - - - OMIM - 612719 - - - Reactome - Q03393 - - - SwissProt - Q03393 - - - - - 11q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 171 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171 - Primary sclerosing cholangitis - - Disease - - - Disorder - - - - 33627483[PMID] - - semaphorin 4D - SEMA4D - - coll-4 - FLJ39737 - M-sema G - CD100 - - - gene with protein product - - - - HGNC - 10732 - - - Ensembl - ENSG00000187764 - - - OMIM - 601866 - - - IUPHAR - 2883 - - - SwissProt - Q92854 - - - - - 9q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22821403[PMID] - - G protein-coupled receptor 35 - GPR35 - - - - gene with protein product - - - - ClinVar - GPR35 - - - Ensembl - ENSG00000178623 - - - Genatlas - GPR35 - - - HGNC - 4492 - - - IUPHAR - 102 - - - OMIM - 602646 - - - SwissProt - Q9HC97 - - - Reactome - Q9HC97 - - - - - 2q37.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 21151127[PMID] - - macrophage stimulating 1 - MST1 - - MSP - NF15S2 - - - gene with protein product - - - - ClinVar - MST1 - - - Reactome - P26927 - - - Ensembl - ENSG00000173531 - - - Genatlas - MST1 - - - HGNC - 7380 - - - OMIM - 142408 - - - SwissProt - P26927 - - - - - 3p21.31 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22821403[PMID] - - transcription factor 4 - TCF4 - - E2-2 - ITF2 - SEF2-1B - bHLHb19 - class B basic helix-loop-helix protein 19 - immunoglobulin transcription factor 2 - SL3-3 enhancer factor 2 - - - gene with protein product - - - - ClinVar - TCF4 - - - Ensembl - ENSG00000196628 - - - Genatlas - TCF4 - - - HGNC - 11634 - - - OMIM - 602272 - - - Reactome - P15884 - - - SwissProt - P15884 - - - - - 18q21.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 199247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199247 - Corticosteroid-binding globulin deficiency - - Disease - - - Disorder - - - - 12780753[PMID] - - serpin family A member 6 - SERPINA6 - - corticosteroid binding globulin - transcortin - - - gene with protein product - - - - Ensembl - ENSG00000170099 - - - Genatlas - SERPINA6 - - - HGNC - 1540 - - - OMIM - 122500 - - - SwissProt - P08185 - - - ClinVar - SERPINA6 - - - - - 14q32.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 199241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199241 - Pulmonary capillary hemangiomatosis - - Disease - - - Disorder - - - - 24135949[PMID] - - eukaryotic translation initiation factor 2 alpha kinase 4 - EIF2AK4 - - GCN2 - KIAA1338 - eIF-2-alpha kinase - - - gene with protein product - - - - Ensembl - ENSG00000128829 - - - Genatlas - EIF2AK4 - - - HGNC - 19687 - - - IUPHAR - 2018 - - - OMIM - 609280 - - - SwissProt - Q9P2K8 - - - ClinVar - EIF2AK4 - - - - - 15q15.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 189466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189466 - Familial isolated hypoparathyroidism due to impaired PTH secretion - - Clinical subtype - - - Subtype of disorder - - - - 2212001[PMID]_10523031[PMID]_22722080[PMID] - - parathyroid hormone - PTH - - PTH1 - parathormone - parathyrin - parathyroid hormone 1 - prepro-PTH - preproparathyroid hormone - - - gene with protein product - - - - ClinVar - PTH - - - Ensembl - ENSG00000152266 - - - Genatlas - PTH - - - HGNC - 9606 - - - OMIM - 168450 - - - Reactome - P01270 - - - SwissProt - P01270 - - - - - 11p15.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28323927[PMID] - - autoimmune regulator - AIRE - - APS1 - PGA1 - autoimmune polyendocrinopathy candidiasis ectodermal dystrophy - - - gene with protein product - - - - Ensembl - ENSG00000160224 - - - Genatlas - AIRE - - - HGNC - 360 - - - OMIM - 607358 - - - SwissProt - O43918 - - - Reactome - O43918 - - - ClinVar - AIRE - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 17 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=17 - Fatal infantile lactic acidosis with methylmalonic aciduria - - Disease - - - Disorder - - - - 19526370[PMID]_21639866[PMID] - - succinate-CoA ligase GDP/ADP-forming subunit alpha - SUCLG1 - - - - gene with protein product - - - - ClinVar - SUCLG1 - - - Ensembl - ENSG00000163541 - - - Genatlas - SUCLG1 - - - HGNC - 11449 - - - OMIM - 611224 - - - Reactome - P53597 - - - SwissProt - P53597 - - - - - 2p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3006 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3006 - Pyridoxine-dependent-developmental and epileptic encephalopathy - - Disease - - - Disorder - - - - 20301659[PMID] - - aldehyde dehydrogenase 7 family member A1 - ALDH7A1 - - 26g turgor protein homolog - EPD - P6c dehydrogenase - PDE - alpha-AASA dehydrogenase - alpha-aminoadipic semialdehyde dehydrogenase - antiquitin 1 - delta1-piperideine-6-carboxylate dehydrogenease - - - gene with protein product - - - - Ensembl - ENSG00000164904 - - - Genatlas - ALDH7A1 - - - HGNC - 877 - - - OMIM - 107323 - - - Reactome - P49419 - - - SwissProt - P49419 - - - ClinVar - ALDH7A1 - - - - - 5q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27912044[PMID] - - pyridoxal phosphate binding protein - PLPBP - - - - gene with protein product - - - - Ensembl - ENSG00000147471 - - - OMIM - 604436 - - - SwissProt - O94903 - - - HGNC - 9457 - - - - - 8p11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3111 - Rotor syndrome - - Disease - - - Disorder - - - - 22232210[PMID]_23236639[PMID] - - solute carrier organic anion transporter family member 1B1 - SLCO1B1 - - LST-1 - OATP-C - OATP1B1 - - - gene with protein product - - - - Ensembl - ENSG00000134538 - - - Genatlas - SLCO1B1 - - - HGNC - 10959 - - - OMIM - 604843 - - - Reactome - Q9Y6L6 - - - SwissProt - Q9Y6L6 - - - IUPHAR - 1220 - - - ClinVar - SLCO1B1 - - - - - 12p12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22232210[PMID]_23236639[PMID] - - solute carrier organic anion transporter family member 1B3 - SLCO1B3 - - OATP1B3 - OATP8 - - - gene with protein product - - - - HGNC - 10961 - - - OMIM - 605495 - - - Reactome - Q9NPD5 - - - SwissProt - Q9NPD5 - - - IUPHAR - 1221 - - - Ensembl - ENSG00000111700 - - - Genatlas - SLCO1B3 - - - ClinVar - SLCO1B3 - - - - - 12p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2382 - Lennox-Gastaut syndrome - - Disease - - - Disorder - - - - 29630738[PMID] - - cut like homeobox 2 - CUX2 - - CDP2 - KIAA0293 - - - gene with protein product - - - - Genatlas - CUX2 - - - SwissProt - O14529 - - - OMIM - 610648 - - - Ensembl - ENSG00000111249 - - - HGNC - 19347 - - - ClinVar - CUX2 - - - - - 12q24.11-q24.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17347258[PMID]_20301494[PMID]_19782004[PMID] - - sodium voltage-gated channel alpha subunit 1 - SCN1A - - GEFSP2 - HBSCI - NAC1 - Nav1.1 - SMEI - - - gene with protein product - - - - ClinVar - SCN1A - - - Ensembl - ENSG00000144285 - - - Genatlas - SCN1A - - - HGNC - 10585 - - - IUPHAR - 578 - - - OMIM - 182389 - - - Reactome - P35498 - - - SwissProt - P35498 - - - - - 2q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16249883[PMID] - - mitogen-activated protein kinase 10 - MAPK10 - - JNK3 - p493F12 - p54bSAPK - - - gene with protein product - - - - Ensembl - ENSG00000109339 - - - Genatlas - MAPK10 - - - HGNC - 6872 - - - IUPHAR - 1498 - - - OMIM - 602897 - - - Reactome - P53779 - - - SwissProt - P53779 - - - ClinVar - MAPK10 - - - - - 4q21.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 23708187[PMID] - - chromodomain helicase DNA binding protein 2 - CHD2 - - DKFZp547I1315 - DKFZp686E01200 - DKFZp781D1727 - FLJ38614 - - - gene with protein product - - - - Ensembl - ENSG00000173575 - - - Genatlas - CHD2 - - - HGNC - 1917 - - - OMIM - 602119 - - - SwissProt - O14647 - - - ClinVar - CHD2 - - - - - 15q26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25262651[PMID]_25533962[PMID] - - dynamin 1 - DNM1 - - - - gene with protein product - - - - Ensembl - ENSG00000106976 - - - Genatlas - DNM1 - - - HGNC - 2972 - - - OMIM - 602377 - - - Reactome - Q05193 - - - SwissProt - Q05193 - - - ClinVar - DNM1 - - - - - 9q34.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23934111[PMID]_27476654[PMID] - - gamma-aminobutyric acid type A receptor subunit beta3 - GABRB3 - - GABA(A) receptor, beta 3 - - - gene with protein product - - - - ClinVar - GABRB3 - - - Ensembl - ENSG00000166206 - - - Genatlas - GABRB3 - - - HGNC - 4083 - - - IUPHAR - 412 - - - OMIM - 137192 - - - Reactome - P28472 - - - SwissProt - P28472 - - - - - 15q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31468518[PMID] - - calcium voltage-gated channel subunit alpha1 A - CACNA1A - - APCA - Cav2.1 - EA2 - FHM - HPCA - - - gene with protein product - - - - ClinVar - CACNA1A - - - Ensembl - ENSG00000141837 - - - Genatlas - CACNA1A - - - HGNC - 1388 - - - IUPHAR - 532 - - - OMIM - 601011 - - - Reactome - O00555 - - - SwissProt - O00555 - - - - - 19p13.13 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 31468518[PMID] - - calcium voltage-gated channel subunit alpha1 A - CACNA1A - - APCA - Cav2.1 - EA2 - FHM - HPCA - - - gene with protein product - - - - ClinVar - CACNA1A - - - Ensembl - ENSG00000141837 - - - Genatlas - CACNA1A - - - HGNC - 1388 - - - IUPHAR - 532 - - - OMIM - 601011 - - - Reactome - O00555 - - - SwissProt - O00555 - - - - - 19p13.13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 1934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1934 - Early infantile developmental and epileptic encephalopathy - - Clinical syndrome - - - Disorder - - - - 31688942[PMID] - - Dmx like 2 - DMXL2 - - DFNA71 - KIAA0856 - rabconnectin 3 - RC3 - - - gene with protein product - - - - HGNC - 2938 - - - OMIM - 612186 - - - Genatlas - DMXL2 - - - SwissProt - Q8TDJ6 - - - Ensembl - ENSG00000104093 - - - ClinVar - DMXL2 - - - - - 15q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34611970[PMID] - - glutamate ionotropic receptor NMDA type subunit 1 - GRIN1 - - GluN1 - NR1 - - - gene with protein product - - - - Ensembl - ENSG00000176884 - - - Genatlas - GRIN1 - - - HGNC - 4584 - - - IUPHAR - 455 - - - OMIM - 138249 - - - Reactome - Q05586 - - - SwissProt - Q05586 - - - ClinVar - GRIN1 - - - - - 9q34.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 36073542[PMID] - - solute carrier family 32 member 1 - SLC32A1 - - bA122O1.1 - VGAT - - - gene with protein product - - - - Ensembl - ENSG00000101438 - - - OMIM - 616440 - - - SwissProt - Q9H598 - - - HGNC - 11018 - - - IUPHAR - 1133 - - - - - 20q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30323019[PMID] - - neuronal differentiation 2 - NEUROD2 - - NDRF - bHLHa1 - NeuroD-related factor - - - gene with protein product - - - - Ensembl - ENSG00000171532 - - - SwissProt - Q15784 - - - OMIM - 601725 - - - HGNC - 7763 - - - - - 17q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34273994[PMID] - - glutamate metabotropic receptor 7 - GRM7 - - protein phosphatase 1, regulatory subunit 87 - GLUR7 - MGLUR7 - mGlu7 - PPP1R87 - GPRC1G - - - gene with protein product - - - - HGNC - 4599 - - - Ensembl - ENSG00000196277 - - - OMIM - 604101 - - - IUPHAR - 295 - - - SwissProt - Q14831 - - - - - 3p26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24278995[PMID]_22709267[PMID] - - calcium/calmodulin dependent serine protein kinase - CASK - - CAGH39 - FGS4 - LIN2 - - - gene with protein product - - - - ClinVar - CASK - - - Ensembl - ENSG00000147044 - - - Genatlas - CASK - - - HGNC - 1497 - - - IUPHAR - 1959 - - - OMIM - 300172 - - - Reactome - O14936 - - - SwissProt - O14936 - - - - - Xp11.4 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23550958[PMID]_23935176[PMID] - - sodium voltage-gated channel alpha subunit 2 - SCN2A - - HBSCI - HBSCII - Nav1.2 - - - gene with protein product - - - - ClinVar - SCN2A - - - Ensembl - ENSG00000136531 - - - Genatlas - SCN2A - - - HGNC - 10588 - - - IUPHAR - 579 - - - OMIM - 182390 - - - Reactome - Q99250 - - - SwissProt - Q99250 - - - - - 2q24.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 22196487[PMID]_22787626[PMID] - - cyclin dependent kinase like 5 - CDKL5 - - CFAP247 - EIEE2 - - - gene with protein product - - - - Reactome - O76039 - - - SwissProt - O76039 - - - Ensembl - ENSG00000008086 - - - Genatlas - CDKL5 - - - HGNC - 11411 - - - IUPHAR - 1986 - - - OMIM - 300203 - - - ClinVar - CDKL5 - - - - - Xp22.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22196487[PMID]_20506206[PMID]_22787626[PMID] - - aristaless related homeobox - ARX - - CT121 - EIEE1 - ISSX - cancer/testis antigen 121 - - - gene with protein product - - - - ClinVar - ARX - - - SwissProt - Q96QS3 - - - Ensembl - ENSG00000004848 - - - Genatlas - ARX - - - HGNC - 18060 - - - OMIM - 300382 - - - - - Xp21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20118933[PMID] - - polynucleotide kinase 3'-phosphatase - PNKP - - PNK - - - gene with protein product - - - - Ensembl - ENSG00000039650 - - - Genatlas - PNKP - - - HGNC - 9154 - - - OMIM - 605610 - - - Reactome - Q96T60 - - - SwissProt - Q96T60 - - - ClinVar - PNKP - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23993195[PMID] - - G protein subunit alpha o1 - GNAO1 - - G-ALPHA-o - - - gene with protein product - - - - HGNC - 4389 - - - OMIM - 139311 - - - Reactome - P09471 - - - SwissProt - P09471 - - - ClinVar - GNAO1 - - - Ensembl - ENSG00000087258 - - - Genatlas - GNAO1 - - - - - 16q13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24463883[PMID] - - phosphatidylinositol glycan anchor biosynthesis class Q - PIGQ - - Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q - GPI1 - hGPI1 - - - gene with protein product - - - - ClinVar - PIGQ - - - Ensembl - ENSG00000007541 - - - Genatlas - PIGQ - - - HGNC - 14135 - - - OMIM - 605754 - - - Reactome - Q9BRB3 - - - SwissProt - Q9BRB3 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25839329[PMID] - - salt inducible kinase 1 - SIK1 - - msk - myocardial SNF1-like kinase - - - gene with protein product - - - - Ensembl - ENSG00000142178 - - - Genatlas - SIK1 - - - HGNC - 11142 - - - IUPHAR - 2197 - - - OMIM - 605705 - - - Reactome - P57059 - - - SwissProt - P57059 - - - ClinVar - SIK1 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28218389[PMID] - - sodium voltage-gated channel beta subunit 1 - SCN1B - - - - gene with protein product - - - - ClinVar - SCN1B - - - Ensembl - ENSG00000105711 - - - Genatlas - SCN1B - - - HGNC - 10586 - - - OMIM - 600235 - - - Reactome - Q07699 - - - SwissProt - Q07699 - - - - - 19q13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19780765[PMID] - - solute carrier family 25 member 22 - SLC25A22 - - EIEE3 - FLJ13044 - GC1 - NET44 - GC-1 - Early infantile epileptic encephalopathy 3 - - - gene with protein product - - - - Reactome - Q9H936 - - - IUPHAR - 1058 - - - Ensembl - ENSG00000177542 - - - Genatlas - SLC25A22 - - - HGNC - 19954 - - - OMIM - 609302 - - - SwissProt - Q9H936 - - - ClinVar - SLC25A22 - - - - - 11p15.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30055040[PMID] - - potassium voltage-gated channel subfamily A member 1 - KCNA1 - - HUK1 - Kv1.1 - MBK1 - RBK1 - - - gene with protein product - - - - Ensembl - ENSG00000111262 - - - Genatlas - KCNA1 - - - HGNC - 6218 - - - IUPHAR - 538 - - - OMIM - 176260 - - - Reactome - Q09470 - - - SwissProt - Q09470 - - - ClinVar - KCNA1 - - - - - 12p13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30244534[PMID] - - tripartite motif containing 8 - TRIM8 - - GERP - glioblastoma expressed ring finger protein - E3 ubiquitin-protein ligase TRIM8 - - - gene with protein product - - - - HGNC - 15579 - - - Ensembl - ENSG00000171206 - - - SwissProt - Q9BZR9 - - - Reactome - Q9BZR9 - - - OMIM - 606125 - - - - - 10q24.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28334793[PMID] - - phosphatidylinositol glycan anchor biosynthesis class P - PIGP - - DCRC - DSRC - phosphatidylinositol-n-acetylglucosaminyltranferase subunit P - - - gene with protein product - - - - HGNC - 3046 - - - Ensembl - ENSG00000185808 - - - SwissProt - P57054 - - - OMIM - 605938 - - - Genatlas - PIGP - - - Reactome - P57054 - - - ClinVar - PIGP - - - - - 21q22.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1942 - Epilepsy with myoclonic-atonic seizures - - Disease - - - Disorder - - - - 21555602[PMID]_31170314[PMID] - - solute carrier family 2 member 1 - SLC2A1 - - DYT18 - DYT9 - GLUT-1 - dystonia gene 18 - dystonia gene 9 - - - gene with protein product - - - - ClinVar - SLC2A1 - - - IUPHAR - 875 - - - Ensembl - ENSG00000117394 - - - Genatlas - SLC2A1 - - - HGNC - 11005 - - - OMIM - 138140 - - - Reactome - P11166 - - - SwissProt - P11166 - - - - - 1p34.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32469098[PMID] - - synaptic Ras GTPase activating protein 1 - SYNGAP1 - - KIAA1938 - RASA5 - SYNGAP - - - gene with protein product - - - - Ensembl - ENSG00000197283 - - - Genatlas - SYNGAP1 - - - HGNC - 11497 - - - OMIM - 603384 - - - Reactome - Q96PV0 - - - SwissProt - Q96PV0 - - - ClinVar - SYNGAP1 - - - - - 6p21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32469098[PMID] - - neurite extension and migration factor - NEXMIF - - KIDLIA - MRX98 - XLMR-related protein, neurite extension - XPN - - - gene with protein product - - - - ClinVar - KIAA2022 - - - Ensembl - ENSG00000050030 - - - Genatlas - KIAA2022 - - - HGNC - 29433 - - - OMIM - 300524 - - - SwissProt - Q5QGS0 - - - - - Xq13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21396429[PMID] - - sodium voltage-gated channel alpha subunit 1 - SCN1A - - GEFSP2 - HBSCI - NAC1 - Nav1.1 - SMEI - - - gene with protein product - - - - ClinVar - SCN1A - - - Ensembl - ENSG00000144285 - - - Genatlas - SCN1A - - - HGNC - 10585 - - - IUPHAR - 578 - - - OMIM - 182389 - - - Reactome - P35498 - - - SwissProt - P35498 - - - - - 2q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23708187[PMID] - - chromodomain helicase DNA binding protein 2 - CHD2 - - DKFZp547I1315 - DKFZp686E01200 - DKFZp781D1727 - FLJ38614 - - - gene with protein product - - - - Ensembl - ENSG00000173575 - - - Genatlas - CHD2 - - - HGNC - 1917 - - - OMIM - 602119 - - - SwissProt - O14647 - - - ClinVar - CHD2 - - - - - 15q26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25865495[PMID] - - solute carrier family 6 member 1 - SLC6A1 - - GABA transporter 1 - GABATHG - GABATR - GAT1 - GAT-1 - hGAT-1 - Sodium- and chloride-dependent GABA transporter 1 - - - gene with protein product - - - - Ensembl - ENSG00000157103 - - - Genatlas - SLC6A1 - - - HGNC - 11042 - - - IUPHAR - 929 - - - OMIM - 137165 - - - Reactome - P30531 - - - SwissProt - P30531 - - - ClinVar - SLC6A1 - - - - - 3p25.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 31104773[PMID] - - adaptor related protein complex 2 subunit mu 1 - AP2M1 - - AP50 - mu2 - clathrin-associated/assembly/adaptor protein, medium 1 - plasma membrane adaptor AP-2 50kDA protein - clathrin coat adaptor protein AP50 - clathrin adaptor complex AP2, mu subunit - HA2 50 kDA subunit - clathrin assembly protein complex 2 medium chain - AP-2 mu 2 chain - - - gene with protein product - - - - HGNC - 564 - - - Ensembl - ENSG00000161203 - - - SwissProt - Q96CW1 - - - Reactome - Q96CW1 - - - OMIM - 601024 - - - - - 3q27.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=267 - Calpain-3-related limb-girdle muscular dystrophy R1 - - Disease - - - Disorder - - - - 20301582[PMID] - - calpain 3 - CAPN3 - - CANP3 - nCL-1 - p94 - - - gene with protein product - - - - Ensembl - ENSG00000092529 - - - Genatlas - CAPN3 - - - HGNC - 1480 - - - OMIM - 114240 - - - SwissProt - P20807 - - - Reactome - P20807 - - - ClinVar - CAPN3 - - - - - 15q15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=186 - Primary biliary cholangitis - - Disease - - - Disorder - - - - - - interleukin 12 receptor subunit beta 1 - IL12RB1 - - CD212 - - - gene with protein product - - - - Reactome - P42701 - - - ClinVar - IL12RB1 - - - Ensembl - ENSG00000096996 - - - Genatlas - IL12RB1 - - - HGNC - 5971 - - - OMIM - 601604 - - - SwissProt - P42701 - - - IUPHAR - 1715 - - - - - 19p13.11 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - Spi-B transcription factor - SPIB - - SPI-B - - - gene with protein product - - - - ClinVar - SPIB - - - Ensembl - ENSG00000269404 - - - Genatlas - SPIB - - - HGNC - 11242 - - - OMIM - 606802 - - - SwissProt - Q01892 - - - - - 19q13.33 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - interleukin 12A - IL12A - - CLMF - IL-12, subunit p35 - IL-12A - IL35 subunit - NF cell stimulatory factor chain 1 - NFSK - cytotoxic lymphocyte maturation factor 1, p35 - interleukin 12, p35 - interleukin-12 alpha chain - natural killer cell stimulatory factor 1, 35 kD subunit - p35 - - - gene with protein product - - - - ClinVar - IL12A - - - Ensembl - ENSG00000168811 - - - Genatlas - IL12A - - - HGNC - 5969 - - - OMIM - 161560 - - - Reactome - P29459 - - - SwissProt - P29459 - - - - - 3q25.33 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - interferon regulatory factor 5 - IRF5 - - IRF-5 - - - gene with protein product - - - - ClinVar - IRF5 - - - Ensembl - ENSG00000128604 - - - Genatlas - IRF5 - - - HGNC - 6120 - - - OMIM - 607218 - - - Reactome - Q13568 - - - SwissProt - Q13568 - - - - - 7q32.1 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - transportin 3 - TNPO3 - - IPO12 - MTR10A - TRN-SR - TRN-SR2 - importin 12 - - - gene with protein product - - - - ClinVar - TNPO3 - - - Ensembl - ENSG00000064419 - - - Genatlas - TNPO3 - - - HGNC - 17103 - - - OMIM - 610032 - - - SwissProt - Q9Y5L0 - - - - - 7q32.1 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - membrane metalloendopeptidase like 1 - MMEL1 - - neprilysin 2 - neprilysin-II - NEPII - NL1 - NL2 - SEP - - - gene with protein product - - - - ClinVar - MMEL1 - - - OMIM - 618104 - - - Ensembl - ENSG00000142606 - - - Genatlas - MMEL1 - - - HGNC - 14668 - - - SwissProt - Q495T6 - - - - - 1p36.32 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - 23000144[PMID] - - POU class 2 homeobox associating factor 1 - POU2AF1 - - OCT-binding factor 1 - OCA-B - OBF1 - BOB1 - - - gene with protein product - - - - Ensembl - ENSG00000110777 - - - Genatlas - POU2AF1 - - - HGNC - 9211 - - - OMIM - 601206 - - - SwissProt - Q16633 - - - Reactome - Q16633 - - - ClinVar - POU2AF1 - - - - - 11q23.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23000144[PMID] - - TNF superfamily member 15 - TNFSF15 - - MGC129934 - MGC129935 - TL1 - TL1A - TNF ligand-related molecule 1 - TNF superfamily ligand TL1A - VEGI - VEGI192A - Vascular endothelial cell growth inhibitor - Vascular endothelial growth inhibitor-192A - vascular endothelial cell growth inhibitor - vascular endothelial growth inhibitor-192A - vascular endothelial growth inhibitor - - - gene with protein product - - - - Ensembl - ENSG00000181634 - - - Genatlas - TNFSF15 - - - HGNC - 11931 - - - OMIM - 604052 - - - Reactome - O95150 - - - SwissProt - O95150 - - - ClinVar - TNFSF15 - - - - - 9q32 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397 - Giant cell arteritis - - Disease - - - Disorder - - - - 23946333[PMID] - - protein tyrosine phosphatase non-receptor type 22 - PTPN22 - - Lyp - Lyp1 - Lyp2 - - - gene with protein product - - - - Ensembl - ENSG00000134242 - - - Genatlas - PTPN22 - - - HGNC - 9652 - - - OMIM - 600716 - - - SwissProt - Q9Y2R2 - - - IUPHAR - 3084 - - - Reactome - Q9Y2R2 - - - ClinVar - PTPN22 - - - - - 1p13.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 26223536[PMID] - - major histocompatibility complex, class II, DR beta 1 - HLA-DRB1 - - - - gene with protein product - - - - ClinVar - HLA-DRB1 - - - Ensembl - ENSG00000196126 - - - Genatlas - HLA-DRB1 - - - HGNC - 4948 - - - OMIM - 142857 - - - Reactome - P04229 - - - SwissProt - P01911 - - - - - 6p21.32 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 33734973[PMID] - - major histocompatibility complex, class I, B - HLA-B - - - - gene with protein product - - - - ClinVar - HLA-B - - - Ensembl - ENSG00000234745 - - - Genatlas - HLA-B - - - HGNC - 4932 - - - OMIM - 142830 - - - SwissProt - P01889 - - - Reactome - P30486 - - - - - 6p21.33 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 28041642[PMID] - - prolyl 4-hydroxylase subunit alpha 2 - P4HA2 - - C-P4Halpha(II) - collagen prolyl 4-hydroxylase alpha(II) - 4-PH alpha 2 - lncRNA-PE - lncRNA promotes epithelial-mesenchymal transition - - - gene with protein product - - - - Ensembl - ENSG00000072682 - - - HGNC - 8547 - - - OMIM - 600608 - - - SwissProt - O15460 - - - - - 5q31.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 2398 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2398 - Multiple symmetric lipomatosis - - Disease - - - Disorder - - - - 26085578[PMID] - - mitofusin 2 - MFN2 - - CMT2A2 - CPRP1 - KIAA0214 - MARF - - - gene with protein product - - - - Ensembl - ENSG00000116688 - - - Genatlas - MFN2 - - - HGNC - 16877 - - - OMIM - 608507 - - - Reactome - O95140 - - - SwissProt - O95140 - - - IUPHAR - 3131 - - - ClinVar - MFN2 - - - - - 1p36.22 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=131 - Budd-Chiari syndrome - - Disease - - - Disorder - - - - 24755609[PMID]_26238013[PMID] - - coagulation factor V - F5 - - - - gene with protein product - - - - ClinVar - F5 - - - Ensembl - ENSG00000198734 - - - Genatlas - F5 - - - HGNC - 3542 - - - IUPHAR - 2606 - - - OMIM - 612309 - - - Reactome - P12259 - - - SwissProt - P12259 - - - - - 1q24.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 26557140[PMID] - - Janus kinase 2 - JAK2 - - JTK10 - - - gene with protein product - - - - Ensembl - ENSG00000096968 - - - Genatlas - JAK2 - - - HGNC - 6192 - - - IUPHAR - 2048 - - - OMIM - 147796 - - - Reactome - O60674 - - - SwissProt - O60674 - - - ClinVar - JAK2 - - - - - 9p24.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 28483676[PMID] - - calreticulin - CALR - - calregulin - CALR1 - CRT - FLJ26680 - RO - SSA - Sicca syndrome antigen A (autoantigen Ro; calreticulin) - autoantigen Ro - cC1qR - - - gene with protein product - - - - SwissProt - P27797 - - - Ensembl - ENSG00000179218 - - - Genatlas - CALR - - - HGNC - 1455 - - - OMIM - 109091 - - - Reactome - P27797 - - - ClinVar - CALR - - - - - 19p13.13 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=654 - Nephroblastoma - - Disease - - - Disorder - - - - 15689453[PMID] - - BRCA2 DNA repair associated - BRCA2 - - BRCA1/BRCA2-containing complex, subunit 2 - BRCC2 - FAD - FAD1 - XRCC11 - - - gene with protein product - - - - SwissProt - P51587 - - - Ensembl - ENSG00000139618 - - - Genatlas - BRCA2 - - - HGNC - 1101 - - - OMIM - 600185 - - - Reactome - P51587 - - - ClinVar - BRCA2 - - - - - 13q13.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 12085187[PMID]_25366870[PMID] - - glypican 3 - GPC3 - - DGSX - OCI-5 - SGB - SGBS - SGBS1 - glypican proteoglycan 3 - - - gene with protein product - - - - ClinVar - GPC3 - - - IUPHAR - 2959 - - - Ensembl - ENSG00000147257 - - - Genatlas - GPC3 - - - HGNC - 4451 - - - OMIM - 300037 - - - Reactome - P51654 - - - SwissProt - P51654 - - - - - Xq26.2 - 1 - - - - - Biomarker tested in - - - Assessed - - - - 39293508[PMID]_25099282[PMID] - - CTR9 homolog, Paf1/RNA polymerase II complex component - CTR9 - - KIAA0155 - p150TSP - TSBP - - - gene with protein product - - - - Ensembl - ENSG00000198730 - - - OMIM - 609366 - - - SwissProt - Q6PD62 - - - HGNC - 16850 - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29912901[PMID] - - tripartite motif containing 28 - TRIM28 - - Transcription intermediary factor 1-beta - RING finger protein 96 - TIF1-beta - TIF1beta - KRAB-associated protein 1 - KAP-1 - KAP1 - PPP1R157 - protein phosphatase 1, regulatory subunit 157 - RNF96 - TF1B - TIF1B - - - gene with protein product - - - - ClinVar - TRIM28 - - - HGNC - 16384 - - - Ensembl - ENSG00000130726 - - - SwissProt - Q13263 - - - OMIM - 601742 - - - Genatlas - TRIM28 - - - Reactome - Q13263 - - - IUPHAR - 2253 - - - - - 19q13.43 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29912901[PMID] - - tripartite motif containing 28 - TRIM28 - - Transcription intermediary factor 1-beta - RING finger protein 96 - TIF1-beta - TIF1beta - KRAB-associated protein 1 - KAP-1 - KAP1 - PPP1R157 - protein phosphatase 1, regulatory subunit 157 - RNF96 - TF1B - TIF1B - - - gene with protein product - - - - ClinVar - TRIM28 - - - HGNC - 16384 - - - Ensembl - ENSG00000130726 - - - SwissProt - Q13263 - - - OMIM - 601742 - - - Genatlas - TRIM28 - - - Reactome - Q13263 - - - IUPHAR - 2253 - - - - - 19q13.43 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 26551668[PMID] - - RE1 silencing transcription factor - REST - - NRSF - XBR - neuron-restrictive silencer factor - - - gene with protein product - - - - Ensembl - ENSG00000084093 - - - Genatlas - REST - - - HGNC - 9966 - - - OMIM - 600571 - - - Reactome - Q13127 - - - SwissProt - Q13127 - - - ClinVar - REST - - - - - 4q12 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 28553959[PMID] - - thyroid hormone receptor interactor 13 - TRIP13 - - 16E1BP - thyroid receptor interacting protein 13 - - - gene with protein product - - - - ClinVar - TRIP13 - - - HGNC - 12307 - - - Ensembl - ENSG00000071539 - - - SwissProt - Q15645 - - - OMIM - 604507 - - - Genatlas - TRIP13 - - - Reactome - Q15645 - - - - - 5p15.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - POU class 6 homeobox 2 - POU6F2 - - RPF-1 - Retina-derived POU-domain factor-1 - - - gene with protein product - - - - ClinVar - POU6F2 - - - Reactome - P78424 - - - Ensembl - ENSG00000106536 - - - Genatlas - POU6F2 - - - HGNC - 21694 - - - OMIM - 609062 - - - SwissProt - P78424 - - - - - 7p14.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - WT1 transcription factor - WT1 - - AWT1 - NPHS4 - WAGR - WIT-2 - WT-1 - - - gene with protein product - - - - ClinVar - WT1 - - - Ensembl - ENSG00000184937 - - - Genatlas - WT1 - - - HGNC - 12796 - - - OMIM - 607102 - - - SwissProt - P19544 - - - Reactome - P19544 - - - - - 11p13 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - WT1 transcription factor - WT1 - - AWT1 - NPHS4 - WAGR - WIT-2 - WT-1 - - - gene with protein product - - - - ClinVar - WT1 - - - Ensembl - ENSG00000184937 - - - Genatlas - WT1 - - - HGNC - 12796 - - - OMIM - 607102 - - - SwissProt - P19544 - - - Reactome - P19544 - - - - - 11p13 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - H19 imprinted maternally expressed transcript - H19 - - GMRSP - ASM - ASM1 - D11S813E - LINC00008 - NCRNA00008 - long intergenic non-protein coding RNA 8 - non-protein coding RNA 8 - MIR675HG - MIR675 host gene - glucose metabolism regulatory protein - adult skeletal muscle - - - Non-coding RNA - - - - Ensembl - ENSG00000130600 - - - Genatlas - H19 - - - HGNC - 4713 - - - OMIM - 103280 - - - SwissProt - - - - ClinVar - H19 - - - - - 11p15.5 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - DIS3 like 3'-5' exoribonuclease 2 - DIS3L2 - - FLJ36974 - MGC42174 - - - gene with protein product - - - - Ensembl - ENSG00000144535 - - - Genatlas - DIS3L2 - - - HGNC - 28648 - - - OMIM - 614184 - - - SwissProt - Q8IYB7 - - - ClinVar - DIS3L2 - - - - - 2q37.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 2587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2587 - Myeloperoxidase deficiency - - Disease - - - Disorder - - - - 7904599[PMID] - - myeloperoxidase - MPO - - - - gene with protein product - - - - IUPHAR - 2789 - - - ClinVar - MPO - - - Ensembl - ENSG00000005381 - - - Genatlas - MPO - - - HGNC - 7218 - - - OMIM - 606989 - - - SwissProt - P05164 - - - Reactome - P05164 - - - - - 17q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3389 - Tuberculosis - - Clinical group - - - Group of disorders - - - - - - solute carrier family 11 member 1 - SLC11A1 - - - - gene with protein product - - - - ClinVar - SLC11A1 - - - IUPHAR - 966 - - - Ensembl - ENSG00000018280 - - - Genatlas - SLC11A1 - - - HGNC - 10907 - - - OMIM - 600266 - - - Reactome - P49279 - - - SwissProt - P49279 - - - - - 2q35 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - 2897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2897 - Pityriasis rubra pilaris - - Disease - - - Disorder - - - - 22703878[PMID] - - caspase recruitment domain family member 14 - CARD14 - - BIMP2 - CARMA2 - - - gene with protein product - - - - Ensembl - ENSG00000141527 - - - Genatlas - CARD14 - - - HGNC - 16446 - - - OMIM - 607211 - - - SwissProt - Q9BXL6 - - - ClinVar - CARD14 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2312 - Transient familial neonatal hyperbilirubinemia - - Disease - - - Disorder - - - - 23014115[PMID] - - UDP glucuronosyltransferase family 1 member A1 - UGT1A1 - - UGT1A - - - Disorder-associated locus - - - - IUPHAR - 2990 - - - HGNC - 12530 - - - OMIM - 191740 - - - Reactome - P22309 - - - SwissProt - P22309 - - - Ensembl - ENSG00000241635 - - - Genatlas - UGT1A1 - - - ClinVar - UGT1A1 - - - - - 2q37.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 183707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183707 - Infantile LAD-like disease due to RAC2 deficiency - - Disease - - - Disorder - - - - 10758162[PMID] - - Rac family small GTPase 2 - RAC2 - - EN-7 - - - gene with protein product - - - - ClinVar - RAC2 - - - Ensembl - ENSG00000128340 - - - Genatlas - RAC2 - - - HGNC - 9802 - - - OMIM - 602049 - - - Reactome - P15153 - - - SwissProt - P15153 - - - - - 22q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2314 - Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency - - Disease - - - Disorder - - - - 17881745[PMID]_17676033[PMID] - - signal transducer and activator of transcription 3 - STAT3 - - APRF - - - gene with protein product - - - - Ensembl - ENSG00000168610 - - - Genatlas - STAT3 - - - HGNC - 11364 - - - OMIM - 102582 - - - Reactome - P40763 - - - SwissProt - P40763 - - - IUPHAR - 2994 - - - ClinVar - STAT3 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 183675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183675 - Recurrent infections associated with rare immunoglobulin isotypes deficiency - - Disease - - - Disorder - - - - 9449702[PMID] - - immunoglobulin heavy constant gamma 2 (G2m marker) - IGHG2 - - - - gene with protein product - - - - ClinVar - IGHG2 - - - Ensembl - ENSG00000211893 - - - Genatlas - IGHG2 - - - HGNC - 5526 - - - OMIM - 147110 - - - Reactome - P01859 - - - SwissProt - P01859 - - - - - 14q32.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - immunoglobulin kappa constant - IGKC - - HCAK1 - - - gene with protein product - - - - ClinVar - IGKC - - - Ensembl - ENSG00000211592 - - - Genatlas - IGKC - - - HGNC - 5716 - - - OMIM - 147200 - - - Reactome - P01834 - - - SwissProt - P01834 - - - - - 2p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2177 - Hydranencephaly - - Malformation syndrome - - - Disorder - - - - 22526350[PMID] - - nudE neurodevelopment protein 1 - NDE1 - - FLJ20101 - NDE - NUDE - nudE - - - gene with protein product - - - - Ensembl - ENSG00000072864 - - - Genatlas - NDE1 - - - HGNC - 17619 - - - OMIM - 609449 - - - Reactome - Q9NXR1 - - - SwissProt - Q9NXR1 - - - ClinVar - NDE1 - - - - - 16p13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2380 - Legg-Calvé-Perthes disease - - Disease - - - Disorder - - - - 17394019[PMID]_18512791[PMID] - - collagen type II alpha 1 chain - COL2A1 - - STL1 - - - gene with protein product - - - - ClinVar - COL2A1 - - - Ensembl - ENSG00000139219 - - - Genatlas - COL2A1 - - - HGNC - 2200 - - - OMIM - 120140 - - - Reactome - P02458 - - - SwissProt - P02458 - - - - - 12q13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=897 - Waardenburg-Shah syndrome - - Disease - - - Disorder - - - - 22378281[PMID]_24311220[PMID] - - SRY-box transcription factor 10 - SOX10 - - DOM - WS2E - WS4 - dominant megacolon, mouse, human homolog of - SOX-10 - - - gene with protein product - - - - ClinVar - SOX10 - - - Ensembl - ENSG00000100146 - - - Genatlas - SOX10 - - - HGNC - 11190 - - - OMIM - 602229 - - - SwissProt - P56693 - - - Reactome - P56693 - - - - - 22q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19764030[PMID] - - endothelin 3 - EDN3 - - ET3 - - - gene with protein product - - - - Ensembl - ENSG00000124205 - - - Genatlas - EDN3 - - - HGNC - 3178 - - - OMIM - 131242 - - - Reactome - P14138 - - - SwissProt - P14138 - - - ClinVar - EDN3 - - - - - 20q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - endothelin receptor type B - EDNRB - - ETB - - - gene with protein product - - - - Reactome - P24530 - - - SwissProt - P24530 - - - Ensembl - ENSG00000136160 - - - Genatlas - EDNRB - - - HGNC - 3180 - - - IUPHAR - 220 - - - OMIM - 131244 - - - ClinVar - EDNRB - - - - - 13q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30612693[PMID] - - melanocyte inducing transcription factor - MITF - - MI - bHLHe32 - homolog of mouse microphthalmia - - - gene with protein product - - - - Ensembl - ENSG00000187098 - - - Genatlas - MITF - - - HGNC - 7105 - - - OMIM - 156845 - - - Reactome - O75030 - - - SwissProt - O75030 - - - ClinVar - MITF - - - - - 3p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=808 - Seckel syndrome - - Malformation syndrome - - - Disorder - - - - 24389050[PMID] - - DNA replication helicase/nuclease 2 - DNA2 - - KIAA0083 - - - gene with protein product - - - - ClinVar - DNA2 - - - Genatlas - DNA2 - - - HGNC - 2939 - - - OMIM - 601810 - - - Reactome - P51530 - - - SwissProt - P51530 - - - Ensembl - ENSG00000138346 - - - - - 10q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34170319[PMID] - - nucleoporin 85 - NUP85 - - NUP75 - FLJ12549 - - - gene with protein product - - - - HGNC - 8734 - - - OMIM - 170285 - - - Ensembl - ENSG00000125450 - - - SwissProt - Q9BW27 - - - Reactome - Q9BW27 - - - - - 17q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12640452[PMID] - - ATR checkpoint kinase - ATR - - FRP1 - MEC1 - MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae) - SCKL - SCKL1 - - - gene with protein product - - - - Ensembl - ENSG00000175054 - - - Genatlas - ATR - - - HGNC - 882 - - - IUPHAR - 1935 - - - OMIM - 601215 - - - Reactome - Q13535 - - - SwissProt - Q13535 - - - ClinVar - ATR - - - - - 3q23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20522431[PMID] - - centrosome assembly and centriole elongation protein - CPAP - - BM032 - CPAP - LAP - LIP1 - SASS4 - SCKL4 - Sas-4 - centrosomal P4.1-associated protein - LAG-3-associated protein - Seckel syndrome 4 - Spindle assembly abnormal 4 - - - gene with protein product - - - - ClinVar - CENPJ - - - Ensembl - ENSG00000151849 - - - Genatlas - CENPJ - - - HGNC - 17272 - - - OMIM - 609279 - - - Reactome - Q9HC77 - - - SwissProt - Q9HC77 - - - - - 13q12.12-q12.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19643772[PMID] - - pericentrin - PCNT - - KEN - KIAA0402 - PCN - PCNTB - SCKL4 - Seckel syndrome 4 - kendrin - - - gene with protein product - - - - ClinVar - PCNT - - - Ensembl - ENSG00000160299 - - - Genatlas - PCNT - - - HGNC - 16068 - - - OMIM - 605925 - - - Reactome - O95613 - - - SwissProt - O95613 - - - - - 21q22.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 21131973[PMID] - - centrosomal protein 152 - CEP152 - - MCPH9 - KIAA0912 - SCKL5 - asterless - - - gene with protein product - - - - Ensembl - ENSG00000103995 - - - Genatlas - CEP152 - - - HGNC - 29298 - - - OMIM - 613529 - - - Reactome - O94986 - - - SwissProt - O94986 - - - ClinVar - CEP152 - - - - - 15q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21998596[PMID] - - RB binding protein 8, endonuclease - RBBP8 - - COM1 - CTBP-interacting protein - CtIP - RIM - - - gene with protein product - - - - SwissProt - Q99708 - - - Ensembl - ENSG00000101773 - - - Genatlas - RBBP8 - - - HGNC - 9891 - - - OMIM - 604124 - - - Reactome - Q99708 - - - ClinVar - RBBP8 - - - - - 18q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23144622[PMID]_20301772[PMID] - - ATR interacting protein - ATRIP - - FLJ12343 - MGC20625 - MGC21482 - MGC26740 - - - gene with protein product - - - - Ensembl - ENSG00000164053 - - - Genatlas - ATRIP - - - HGNC - 33499 - - - OMIM - 606605 - - - Reactome - Q8WXE1 - - - SwissProt - Q8WXE1 - - - ClinVar - ATRIP - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26595769[PMID] - - TRAF interacting protein - TRAIP - - RNF206 - TRIP - ring finger protein 206 - - - gene with protein product - - - - Reactome - Q9BWF2 - - - SwissProt - Q9BWF2 - - - Ensembl - ENSG00000183763 - - - Genatlas - TRAIP - - - HGNC - 30764 - - - OMIM - 605958 - - - ClinVar - TRAIP - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25344692[PMID]_25320347[PMID] - - polo like kinase 4 - PLK4 - - Sak - - - gene with protein product - - - - ClinVar - PLK4 - - - Ensembl - ENSG00000142731 - - - Genatlas - PLK4 - - - HGNC - 11397 - - - IUPHAR - 2171 - - - OMIM - 605031 - - - Reactome - O00444 - - - SwissProt - O00444 - - - - - 4q28.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24748105[PMID] - - centromere protein E - CENPE - - KIF10 - PPP1R61 - protein phosphatase 1, regulatory subunit 61 - - - gene with protein product - - - - Ensembl - ENSG00000138778 - - - Genatlas - CENPE - - - HGNC - 1856 - - - OMIM - 117143 - - - Reactome - Q02224 - - - SwissProt - Q02224 - - - ClinVar - CENPE - - - - - 4q24 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027 - Caudal regression syndrome - - Malformation syndrome - - - Disorder - - - - 17409324[PMID] - - VANGL planar cell polarity protein 1 - VANGL1 - - STB2 - - - gene with protein product - - - - Ensembl - ENSG00000173218 - - - Genatlas - VANGL1 - - - HGNC - 15512 - - - OMIM - 610132 - - - SwissProt - Q8TAA9 - - - Reactome - Q8TAA9 - - - ClinVar - VANGL1 - - - - - 1p13.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 21840926[PMID] - - fuzzy planar cell polarity protein - FUZ - - CPLANE3 - FLJ22688 - Fy - ciliogenesis and planar polarity effector complex subunit 3 - - - gene with protein product - - - - Ensembl - ENSG00000010361 - - - Genatlas - FUZ - - - HGNC - 26219 - - - OMIM - 610622 - - - Reactome - Q9BT04 - - - SwissProt - Q9BT04 - - - ClinVar - FUZ - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676 - Autosomal dominant hereditary chronic pancreatitis - - Disease - - - Disorder - - - - 26166472[PMID] - - calcium sensing receptor - CASR - - FHH - GPRC2A - NSHPT - severe neonatal hyperparathyroidism - - - gene with protein product - - - - Ensembl - ENSG00000036828 - - - Genatlas - CASR - - - HGNC - 1514 - - - IUPHAR - 54 - - - OMIM - 601199 - - - Reactome - P41180 - - - SwissProt - P41180 - - - ClinVar - CASR - - - - - 3q13.33-q21.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 23864476[PMID]_22379635[PMID] - - serine protease 1 - PRSS1 - - - - gene with protein product - - - - Ensembl - ENSG00000204983 - - - Genatlas - PRSS1 - - - HGNC - 9475 - - - IUPHAR - 2397 - - - OMIM - 276000 - - - Reactome - P07477 - - - SwissProt - P07477 - - - ClinVar - PRSS1 - - - - - 7q34 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 18461367[PMID] - - serine protease 2 - PRSS2 - - TRY2 - trypsin 2 - - - gene with protein product - - - - SwissProt - P07478 - - - ClinVar - PRSS2 - - - Ensembl - ENSG00000275896 - - - Genatlas - PRSS2 - - - HGNC - 9483 - - - IUPHAR - 2398 - - - OMIM - 601564 - - - Reactome - P07478 - - - - - 7q34 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 18059268[PMID]_23601753[PMID]_22539344[PMID] - - chymotrypsin C - CTRC - - CLCR - ELA4 - caldecrin - elastase 4 - chymotrypsinogen C - - - gene with protein product - - - - Ensembl - ENSG00000162438 - - - Genatlas - CTRC - - - HGNC - 2523 - - - IUPHAR - 2341 - - - OMIM - 601405 - - - Reactome - Q99895 - - - SwissProt - Q99895 - - - ClinVar - CTRC - - - - - 1p36.21 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 23955596[PMID]_24522117[PMID] - - carboxypeptidase A1 - CPA1 - - pancreatic carboxypeptidase A - - - gene with protein product - - - - ClinVar - CPA1 - - - Ensembl - ENSG00000091704 - - - Genatlas - CPA1 - - - HGNC - 2296 - - - IUPHAR - 1587 - - - OMIM - 114850 - - - SwissProt - P15085 - - - - - 7q32.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 31930989[PMID] - - transient receptor potential cation channel subfamily V member 6 - TRPV6 - - CaT1 - - - gene with protein product - - - - HGNC - 14006 - - - Ensembl - ENSG00000165125 - - - SwissProt - Q9H1D0 - - - OMIM - 606680 - - - IUPHAR - 512 - - - - - 7q34 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643 - Giant axonal neuropathy - - Disease - - - Disorder - - - - 20301315[PMID] - - gigaxonin - GAN - - GAN1 - KLHL16 - kelch-like family member 16 - GIG - - - gene with protein product - - - - ClinVar - GAN - - - Reactome - Q9H2C0 - - - SwissProt - Q9H2C0 - - - Ensembl - ENSG00000261609 - - - Genatlas - GAN - - - HGNC - 4137 - - - OMIM - 605379 - - - - - 16q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634 - Netherton syndrome - - Disease - - - Disorder - - - - 10835624[PMID] - - serine peptidase inhibitor Kazal type 5 - SPINK5 - - DKFZp686K19184 - FLJ21544 - FLJ97536 - FLJ97596 - FLJ99794 - LEKTI - LETKI - NETS - NS - VAKTI - lymphoepithelial Kazal-type-related inhibitor - - - gene with protein product - - - - Reactome - Q9NQ38 - - - ClinVar - SPINK5 - - - Ensembl - ENSG00000133710 - - - Genatlas - SPINK5 - - - HGNC - 15464 - - - OMIM - 605010 - - - SwissProt - Q9NQ38 - - - - - 5q32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140 - Campomelic dysplasia - - Malformation syndrome - - - Disorder - - - - 22051515[PMID]_20301724[PMID] - - SRY-box transcription factor 9 - SOX9 - - SRA1 - - - gene with protein product - - - - Ensembl - ENSG00000125398 - - - Genatlas - SOX9 - - - HGNC - 11204 - - - OMIM - 608160 - - - Reactome - P48436 - - - SwissProt - P48436 - - - ClinVar - SOX9 - - - - - 17q24.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2828 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2828 - Young-onset Parkinson disease - - Disease - - - Disorder - - - - 23804577[PMID]_23804563[PMID] - - synaptojanin 1 - SYNJ1 - - INPP5G - PARK20 - inositol polyphosphate-5-phosphatase G - phosphoinositide 5-phosphatase - synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1 - - - gene with protein product - - - - ClinVar - SYNJ1 - - - IUPHAR - 1461 - - - Ensembl - ENSG00000159082 - - - Genatlas - SYNJ1 - - - HGNC - 11503 - - - OMIM - 604297 - - - Reactome - O43426 - - - SwissProt - O43426 - - - - - 21q22.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17489854[PMID]_18704525[PMID]_20013014[PMID]_24768741[PMID] - - synuclein alpha - SNCA - - NACP - PD1 - alpha-synuclein - non A4 component of amyloid precursor - a-synuclein - - - gene with protein product - - - - IUPHAR - 3285 - - - ClinVar - SNCA - - - Ensembl - ENSG00000145335 - - - Genatlas - SNCA - - - HGNC - 11138 - - - OMIM - 163890 - - - Reactome - P37840 - - - SwissProt - P37840 - - - - - 4q22.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 22166458[PMID] - - PTEN induced kinase 1 - PINK1 - - BRPK - - - gene with protein product - - - - Ensembl - ENSG00000158828 - - - Genatlas - PINK1 - - - HGNC - 14581 - - - IUPHAR - 2161 - - - OMIM - 608309 - - - Reactome - Q9BXM7 - - - SwissProt - Q9BXM7 - - - ClinVar - PINK1 - - - - - 1p36.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - ubiquitin C-terminal hydrolase L1 - UCHL1 - - PGP9.5 - Uch-L1 - ubiquitin thiolesterase - UCHL-1 - - - gene with protein product - - - - Reactome - P09936 - - - Ensembl - ENSG00000154277 - - - Genatlas - UCHL1 - - - HGNC - 12513 - - - IUPHAR - 2426 - - - OMIM - 191342 - - - SwissProt - P09936 - - - ClinVar - UCHL1 - - - - - 4p13 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 21701785[PMID] - - HtrA serine peptidase 2 - HTRA2 - - OMI - PARK13 - - - gene with protein product - - - - Reactome - O43464 - - - ClinVar - HTRA2 - - - Ensembl - ENSG00000115317 - - - Genatlas - HTRA2 - - - HGNC - 14348 - - - OMIM - 606441 - - - SwissProt - O43464 - - - - - 2p13.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 26864383[PMID] - - podocalyxin like - PODXL - - Gp200 - PC - PCLP - PODXL1 - gp135 - PDX - - - gene with protein product - - - - HGNC - 9171 - - - OMIM - 602632 - - - Reactome - O00592 - - - ClinVar - PODXL - - - Genatlas - PODXL - - - SwissProt - O00592 - - - Ensembl - ENSG00000128567 - - - - - 7q32.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22166458[PMID] - - leucine rich repeat kinase 2 - LRRK2 - - dardarin - DKFZp434H2111 - FLJ45829 - RIPK7 - ROCO2 - - - gene with protein product - - - - ClinVar - LRRK2 - - - Reactome - Q5S007 - - - Ensembl - ENSG00000188906 - - - Genatlas - LRRK2 - - - HGNC - 18618 - - - IUPHAR - 2059 - - - OMIM - 609007 - - - SwissProt - Q5S007 - - - - - 12q12 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 22166458[PMID] - - parkin RBR E3 ubiquitin protein ligase - PRKN - - AR-JP - E3 ubiquitin ligase - PDJ - parkin - - - gene with protein product - - - - Ensembl - ENSG00000185345 - - - Genatlas - PARK2 - - - HGNC - 8607 - - - OMIM - 602544 - - - Reactome - O60260 - - - SwissProt - O60260 - - - ClinVar - PARK2 - - - - - 6q26 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22166458[PMID] - - Parkinsonism associated deglycase - PARK7 - - GATD2 - DJ-1 - DJ1 - - - gene with protein product - - - - Ensembl - ENSG00000116288 - - - Genatlas - PARK7 - - - HGNC - 16369 - - - OMIM - 602533 - - - SwissProt - Q99497 - - - ClinVar - PARK7 - - - Reactome - Q99497 - - - - - 1p36.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26942284[PMID] - - vacuolar protein sorting 13 homolog C - VPS13C - - FLJ10381 - FLJ20136 - KIAA1421 - PARK23 - bridge-like lipid transfer protein family member 5C - BLTP5C - - - gene with protein product - - - - ClinVar - VPS13C - - - Ensembl - ENSG00000129003 - - - Genatlas - VPS13C - - - HGNC - 23594 - - - OMIM - 608879 - - - SwissProt - Q709C8 - - - - - 15q22.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 26528954[PMID] - - DnaJ heat shock protein family (Hsp40) member C6 - DNAJC6 - - KIAA0473 - PARK19 - auxilin - - - gene with protein product - - - - ClinVar - DNAJC6 - - - Ensembl - ENSG00000116675 - - - Genatlas - DNAJC6 - - - HGNC - 15469 - - - OMIM - 608375 - - - Reactome - O75061 - - - SwissProt - O75061 - - - - - 1p31.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642 - Hereditary sensory and autonomic neuropathy type 4 - - Disease - - - Disorder - - - - 20301726[PMID] - - neurotrophic receptor tyrosine kinase 1 - NTRK1 - - MTC - TRK - TRKA - high affinity nerve growth factor receptor - tropomyosin receptor kinase A - - - gene with protein product - - - - ClinVar - NTRK1 - - - Ensembl - ENSG00000198400 - - - Genatlas - NTRK1 - - - HGNC - 8031 - - - IUPHAR - 1817 - - - OMIM - 191315 - - - Reactome - P04629 - - - SwissProt - P04629 - - - - - 1q23.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=627 - Nance-Horan syndrome - - Malformation syndrome - - - Disorder - - - - 20332100[PMID] - - NHS actin remodeling regulator - NHS - - - - gene with protein product - - - - Ensembl - ENSG00000188158 - - - Genatlas - NHS - - - HGNC - 7820 - - - OMIM - 300457 - - - SwissProt - Q6T4R5 - - - ClinVar - NHS - - - - - Xp22.2-p22.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=638 - Neurofibromatosis-Noonan syndrome - - Malformation syndrome - - - Disorder - - - - 24311457[PMID] - - mitogen-activated protein kinase kinase 2 - MAP2K2 - - MKK2 - MAP kinase kinase 2 - MEK2 - - - gene with protein product - - - - OMIM - 601263 - - - Reactome - P36507 - - - SwissProt - P36507 - - - Ensembl - ENSG00000126934 - - - Genatlas - MAP2K2 - - - HGNC - 6842 - - - IUPHAR - 2063 - - - ClinVar - MAP2K2 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22847776[PMID] - - neurofibromin 1 - NF1 - - Watson disease - neurofibromatosis - von Recklinghausen disease - - - gene with protein product - - - - Ensembl - ENSG00000196712 - - - Genatlas - NF1 - - - HGNC - 7765 - - - OMIM - 613113 - - - ClinVar - NF1 - - - Reactome - P21359 - - - SwissProt - P21359 - - - - - 17q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=326 - Congenital factor V deficiency - - Disease - - - Disorder - - - - - - coagulation factor V - F5 - - - - gene with protein product - - - - ClinVar - F5 - - - Ensembl - ENSG00000198734 - - - Genatlas - F5 - - - HGNC - 3542 - - - IUPHAR - 2606 - - - OMIM - 612309 - - - Reactome - P12259 - - - SwissProt - P12259 - - - - - 1q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=526 - Liddle syndrome - - Disease - - - Disorder - - - - - - sodium channel epithelial 1 subunit beta - SCNN1B - - amiloride-sensitive sodium channel subunit beta - ENaCbeta - Liddle syndrome - - - gene with protein product - - - - ClinVar - SCNN1B - - - Ensembl - ENSG00000168447 - - - Genatlas - SCNN1B - - - HGNC - 10600 - - - IUPHAR - 739 - - - OMIM - 600760 - - - Reactome - P51168 - - - SwissProt - P51168 - - - - - 16p12.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - sodium channel epithelial 1 subunit gamma - SCNN1G - - amiloride-sensitive sodium channel subunit gamma - ENaCgamma - SCNEG - - - gene with protein product - - - - ClinVar - SCNN1G - - - Ensembl - ENSG00000166828 - - - Genatlas - SCNN1G - - - HGNC - 10602 - - - IUPHAR - 741 - - - OMIM - 600761 - - - Reactome - P51170 - - - SwissProt - P51170 - - - - - 16p12.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 28710092[PMID] - - sodium channel epithelial 1 subunit alpha - SCNN1A - - amiloride-sensitive sodium channel subunit alpha - ENaCalpha - - - gene with protein product - - - - ClinVar - SCNN1A - - - Genatlas - SCNN1A - - - HGNC - 10599 - - - IUPHAR - 738 - - - OMIM - 600228 - - - Reactome - P37088 - - - SwissProt - P37088 - - - Ensembl - ENSG00000111319 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=215 - Congenital stationary night blindness - - Disease - - - Disorder - - - - 9888392[PMID] - - rhodopsin - RHO - - CSNBAD1 - OPN2 - opsin 2, rod pigment - - - gene with protein product - - - - ClinVar - RHO - - - Ensembl - ENSG00000163914 - - - Genatlas - RHO - - - HGNC - 10012 - - - OMIM - 180380 - - - Reactome - P08100 - - - SwissProt - P08100 - - - IUPHAR - 2963 - - - - - 3q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19578023[PMID] - - S-antigen visual arrestin - SAG - - rod arrestin - ARRESTIN - RP47 - arrestin 1 - - - gene with protein product - - - - ClinVar - SAG - - - Ensembl - ENSG00000130561 - - - Genatlas - SAG - - - HGNC - 10521 - - - OMIM - 181031 - - - Reactome - P10523 - - - SwissProt - P10523 - - - - - 2q37.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 16960802[PMID] - - calcium binding protein 4 - CABP4 - - CSNB2B - - - gene with protein product - - - - Ensembl - ENSG00000175544 - - - Genatlas - CABP4 - - - HGNC - 1386 - - - OMIM - 608965 - - - SwissProt - P57796 - - - ClinVar - CABP4 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301423[PMID] - - calcium voltage-gated channel subunit alpha1 F - CACNA1F - - CORDX3 - CSNB2A - CSNBX2 - Cav1.4 - JM8 - JMC8 - OA2 - - - gene with protein product - - - - Genatlas - CACNA1F - - - HGNC - 1393 - - - IUPHAR - 531 - - - OMIM - 300110 - - - Reactome - O60840 - - - SwissProt - O60840 - - - Ensembl - ENSG00000102001 - - - ClinVar - CACNA1F - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 8673138[PMID]_22190596[PMID] - - G protein subunit alpha transducin 1 - GNAT1 - - CSNBAD3 - - - gene with protein product - - - - ClinVar - GNAT1 - - - Ensembl - ENSG00000114349 - - - Genatlas - GNAT1 - - - HGNC - 4393 - - - OMIM - 139330 - - - Reactome - P11488 - - - SwissProt - P11488 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17405131[PMID] - - glutamate metabotropic receptor 6 - GRM6 - - CSNB1B - GPRC1F - MGLUR6 - mGlu6 - - - gene with protein product - - - - ClinVar - GRM6 - - - Ensembl - ENSG00000113262 - - - Genatlas - GRM6 - - - HGNC - 4598 - - - IUPHAR - 294 - - - OMIM - 604096 - - - Reactome - O15303 - - - SwissProt - O15303 - - - - - 5q35.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301423[PMID] - - nyctalopin - NYX - - CLRP - CSNB1A - - - gene with protein product - - - - ClinVar - NYX - - - Genatlas - NYX - - - HGNC - 8082 - - - OMIM - 300278 - - - SwissProt - Q9GZU5 - - - Ensembl - ENSG00000188937 - - - Reactome - Q9GZU5 - - - - - Xp11.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 8075643[PMID] - - phosphodiesterase 6B - PDE6B - - CSNB3 - CSNBAD2 - RP40 - congenital stationary night blindness 3, autosomal dominant - rd1 - rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta - - - gene with protein product - - - - IUPHAR - 1313 - - - Ensembl - ENSG00000133256 - - - Genatlas - PDE6B - - - HGNC - 8786 - - - OMIM - 180072 - - - Reactome - P35913 - - - SwissProt - P35913 - - - ClinVar - PDE6B - - - - - 4p16.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19578023[PMID] - - calcium voltage-gated channel auxiliary subunit alpha2delta 4 - CACNA2D4 - - alpha2delta-4 - - - gene with protein product - - - - Ensembl - ENSG00000151062 - - - Genatlas - CACNA2D4 - - - HGNC - 20202 - - - OMIM - 608171 - - - Reactome - Q7Z3S7 - - - SwissProt - Q7Z3S7 - - - ClinVar - CACNA2D4 - - - - - 12p13.33 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 19896109[PMID]_19896113[PMID] - - transient receptor potential cation channel subfamily M member 1 - TRPM1 - - CSNB1C - LTRPC1 - - - gene with protein product - - - - Ensembl - ENSG00000134160 - - - Genatlas - TRPM1 - - - HGNC - 7146 - - - IUPHAR - 493 - - - OMIM - 603576 - - - Reactome - Q7Z4N2 - - - SwissProt - Q7Z4N2 - - - ClinVar - TRPM1 - - - - - 15q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20850105[PMID] - - solute carrier family 24 member 1 - SLC24A1 - - CSNB1D - HsT17412 - KIAA0702 - NCKX - NCKX1 - RODX - Na/Ca-K exchanger 1 - retinal rod Na+/Ca+/K+ exchanger - - - gene with protein product - - - - Ensembl - ENSG00000074621 - - - Genatlas - SLC24A1 - - - HGNC - 10975 - - - OMIM - 603617 - - - Reactome - O60721 - - - SwissProt - O60721 - - - ClinVar - SLC24A1 - - - IUPHAR - 1045 - - - - - 15q22.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22325361[PMID]_22325362[PMID] - - G protein-coupled receptor 179 - GPR179 - - CSNB1E - - - gene with protein product - - - - Ensembl - ENSG00000277399 - - - Genatlas - GPR179 - - - HGNC - 31371 - - - IUPHAR - 211 - - - OMIM - 614515 - - - SwissProt - Q6PRD1 - - - ClinVar - GPR179 - - - - - 17q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23246293[PMID] - - leucine rich repeat, Ig-like and transmembrane domains 3 - LRIT3 - - CSNB1F - FIGLER4 - FLJ44691 - Fibronectin type III, immunoglobulin and leucine rich repeat domains 4 - fibronectin type III, immunoglobulin and leucine rich repeat domains 4 - - - gene with protein product - - - - Ensembl - ENSG00000183423 - - - Genatlas - LRIT3 - - - HGNC - 24783 - - - OMIM - 615004 - - - SwissProt - Q3SXY7 - - - ClinVar - LRIT3 - - - - - 4q25 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - G protein-coupled receptor kinase 1 - GRK1 - - GPRK1 - RK - - - gene with protein product - - - - ClinVar - GRK1 - - - Genatlas - GRK1 - - - HGNC - 10013 - - - IUPHAR - 1465 - - - OMIM - 180381 - - - Reactome - Q15835 - - - SwissProt - Q15835 - - - Ensembl - ENSG00000185974 - - - - - 13q34 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 27063057[PMID] - - G protein subunit beta 3 - GNB3 - - transducin beta chain 3 - Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 - - - gene with protein product - - - - ClinVar - GNB3 - - - HGNC - 4400 - - - Ensembl - ENSG00000111664 - - - SwissProt - P16520 - - - OMIM - 139130 - - - Genatlas - GNB3 - - - Reactome - P16520 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=342 - Familial Mediterranean fever - - Disease - - - Disorder - - - - - - MEFV innate immunity regulator, pyrin - MEFV - - FMF - TRIM20 - marenostrin - - - gene with protein product - - - - Ensembl - ENSG00000103313 - - - Genatlas - MEFV - - - HGNC - 6998 - - - OMIM - 608107 - - - Reactome - O15553 - - - SwissProt - O15553 - - - ClinVar - MEFV - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180 - Choroideremia - - Disease - - - Disorder - - - - - - CHM Rab escort protein - CHM - - REP-1 - Rab proteins geranylgeranyltransferase component A 1 - Rab escort protein 1 - - - gene with protein product - - - - Reactome - P24386 - - - HGNC - 1940 - - - OMIM - 300390 - - - SwissProt - P24386 - - - Ensembl - ENSG00000188419 - - - Genatlas - CHM - - - ClinVar - CHM - - - - - Xq21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=327 - Congenital factor VII deficiency - - Disease - - - Disorder - - - - - - coagulation factor VII - F7 - - FVII coagulation protein - eptacog alfa - factor VII - - - gene with protein product - - - - ClinVar - F7 - - - Ensembl - ENSG00000057593 - - - Genatlas - F7 - - - HGNC - 3544 - - - IUPHAR - 2363 - - - OMIM - 613878 - - - Reactome - P08709 - - - SwissProt - P08709 - - - - - 13q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373 - Simpson-Golabi-Behmel syndrome - - Malformation syndrome - - - Disorder - - - - 10814714[PMID]_20301398[PMID] - - glypican 3 - GPC3 - - DGSX - OCI-5 - SGB - SGBS - SGBS1 - glypican proteoglycan 3 - - - gene with protein product - - - - ClinVar - GPC3 - - - IUPHAR - 2959 - - - Ensembl - ENSG00000147257 - - - Genatlas - GPC3 - - - HGNC - 4451 - - - OMIM - 300037 - - - Reactome - P51654 - - - SwissProt - P51654 - - - - - Xq26.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 21082656[PMID]_20301398[PMID] - - glypican 4 - GPC4 - - glypican proteoglycan 4 - K-glypican - - - gene with protein product - - - - ClinVar - GPC4 - - - Ensembl - ENSG00000076716 - - - Genatlas - GPC4 - - - HGNC - 4452 - - - OMIM - 300168 - - - Reactome - O75487 - - - SwissProt - O75487 - - - - - Xq26.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=403 - Familial hyperaldosteronism type I - - Disease - - - Disorder - - - - 24817817[PMID]_20634641[PMID] - - cytochrome P450 family 11 subfamily B member 1 - CYP11B1 - - steroid 11-beta-monooxygenase - CPN1 - FHI - P450C11 - - - gene with protein product - - - - ClinVar - CYP11B1 - - - IUPHAR - 1359 - - - OMIM - 610613 - - - Reactome - P15538 - - - SwissProt - P15538 - - - Ensembl - ENSG00000160882 - - - Genatlas - CYP11B1 - - - HGNC - 2591 - - - - - 8q24.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 24817817[PMID]_20634641[PMID] - - cytochrome P450 family 11 subfamily B member 2 - CYP11B2 - - ALDOS - CPN2 - CYP11BL - P-450C18 - P450aldo - steroid 11-beta-monooxygenase - - - gene with protein product - - - - ClinVar - CYP11B2 - - - IUPHAR - 1360 - - - Ensembl - ENSG00000179142 - - - Genatlas - CYP11B2 - - - HGNC - 2592 - - - OMIM - 124080 - - - Reactome - P19099 - - - SwissProt - P19099 - - - - - 8q24.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 146 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=146 - Differentiated thyroid carcinoma - - Disease - - - Disorder - - - - 12670889[PMID]_17891228[PMID]_25702102[PMID] - - B-Raf proto-oncogene, serine/threonine kinase - BRAF - - BRAF1 - BRAF-1 - - - gene with protein product - - - - Ensembl - ENSG00000157764 - - - Genatlas - BRAF - - - HGNC - 1097 - - - IUPHAR - 1943 - - - OMIM - 164757 - - - Reactome - P15056 - - - SwissProt - P15056 - - - ClinVar - BRAF - - - - - 7q34 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 25417114[PMID] - - eukaryotic translation initiation factor 1A X-linked - EIF1AX - - eIF-1A - eIF-4C - - - gene with protein product - - - - SwissProt - P47813 - - - ClinVar - EIF1AX - - - Ensembl - ENSG00000173674 - - - Genatlas - EIF1AX - - - HGNC - 3250 - - - OMIM - 300186 - - - Reactome - P47813 - - - - - Xp22.12 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 10958784[PMID]_25069464[PMID]_25708358[PMID]_17891228[PMID] - - peroxisome proliferator activated receptor gamma - PPARG - - PPARG2 - PPARgamma - NR1C3 - PPARG1 - - - gene with protein product - - - - Ensembl - ENSG00000132170 - - - Genatlas - PPARG - - - ClinVar - PPARG - - - HGNC - 9236 - - - IUPHAR - 595 - - - OMIM - 601487 - - - Reactome - P37231 - - - SwissProt - P37231 - - - - - 3p25.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 25407564[PMID]_17891228[PMID] - - ret proto-oncogene - RET - - CDHF12 - CDHR16 - PTC - RET receptor tyrosine kinase - RET51 - cadherin-related family member 16 - rearranged during transfection - - - gene with protein product - - - - ClinVar - RET - - - Ensembl - ENSG00000165731 - - - Genatlas - RET - - - HGNC - 9967 - - - IUPHAR - 2185 - - - OMIM - 164761 - - - SwissProt - P07949 - - - Reactome - P07949 - - - - - 10q11.21 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 23625203[PMID]_25132659[PMID]_25648502[PMID] - - KRAS proto-oncogene, GTPase - KRAS - - KRAS1 - K-Ras4B - - - gene with protein product - - - - IUPHAR - 2824 - - - ClinVar - KRAS - - - Ensembl - ENSG00000133703 - - - Genatlas - KRAS - - - HGNC - 6407 - - - OMIM - 190070 - - - Reactome - P01116 - - - SwissProt - P01116 - - - - - 12p12.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 25407564[PMID] - - coiled-coil domain containing 6 - CCDC6 - - PTC1 - DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1 - H4 - PTC - TPC - thyroid papillary carcinoma - - - gene with protein product - - - - Ensembl - ENSG00000108091 - - - Genatlas - CCDC6 - - - HGNC - 18782 - - - OMIM - 601985 - - - SwissProt - Q16204 - - - ClinVar - CCDC6 - - - - - 10q21.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 9172002[PMID]_9169129[PMID] - - trafficking from ER to golgi regulator - TFG - - FLJ36137 - SPG57 - TF6 - - - gene with protein product - - - - ClinVar - TFG - - - Ensembl - ENSG00000114354 - - - Genatlas - TFG - - - HGNC - 11758 - - - OMIM - 602498 - - - Reactome - Q92734 - - - SwissProt - Q92734 - - - - - 3q12.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 9172002[PMID]_1532241[PMID] - - translocated promoter region, nuclear basket protein - TPR - - - - gene with protein product - - - - Ensembl - ENSG00000047410 - - - Genatlas - TPR - - - HGNC - 12017 - - - OMIM - 189940 - - - Reactome - P12270 - - - SwissProt - P12270 - - - ClinVar - TPR - - - - - 1q31.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 10439047[PMID]_17062879[PMID] - - tripartite motif containing 24 - TRIM24 - - RNF82 - Tif1a - hTIF1 - TIF1A - - - gene with protein product - - - - IUPHAR - 2252 - - - OMIM - 603406 - - - Reactome - O15164 - - - SwissProt - O15164 - - - Ensembl - ENSG00000122779 - - - Genatlas - TRIM24 - - - HGNC - 11812 - - - ClinVar - TRIM24 - - - - - 7q33-q34 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 12787916[PMID]_17062879[PMID] - - tripartite motif containing 27 - TRIM27 - - RNF76 - - - gene with protein product - - - - Reactome - P14373 - - - Ensembl - ENSG00000204713 - - - Genatlas - TRIM27 - - - HGNC - 9975 - - - OMIM - 602165 - - - SwissProt - P14373 - - - ClinVar - TRIM27 - - - - - 6p22.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 10439047[PMID]_17062879[PMID] - - tripartite motif containing 33 - TRIM33 - - FLJ11429 - KIAA1113 - PTC7 - RFG7 - TF1G - TIF1G - TIF1GAMMA - TIFGAMMA - ret-fused gene 7 - transcriptional intermediary factor 1 gamma - - - gene with protein product - - - - Ensembl - ENSG00000197323 - - - Genatlas - TRIM33 - - - HGNC - 16290 - - - IUPHAR - 2254 - - - OMIM - 605769 - - - Reactome - Q9UPN9 - - - ClinVar - TRIM33 - - - SwissProt - Q9UPN9 - - - - - 1p13.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 10337992[PMID] - - ELKS/RAB6-interacting/CAST family member 1 - ERC1 - - CAST2 - ELKS - KIAA1081 - MGC12974 - - - gene with protein product - - - - Ensembl - ENSG00000082805 - - - Genatlas - ERC1 - - - HGNC - 17072 - - - OMIM - 607127 - - - SwissProt - Q8IUD2 - - - ClinVar - ERC1 - - - - - 12p13.33 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 21730105[PMID] - - forkhead box E1 - FOXE1 - - HFKH4 - TTF-2 - thyroid transcription factor 2 - - - gene with protein product - - - - Ensembl - ENSG00000178919 - - - Genatlas - FOXE1 - - - HGNC - 3806 - - - OMIM - 602617 - - - SwissProt - O00358 - - - ClinVar - FOXE1 - - - - - 9q22.33 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 9443391[PMID]_17062879[PMID] - - golgin A5 - GOLGA5 - - golgin-84 - ret-II - rfg5 - GOLIM5 - golgi integral membrane protein 5 - - - gene with protein product - - - - Reactome - Q8TBA6 - - - ClinVar - GOLGA5 - - - Ensembl - ENSG00000066455 - - - Genatlas - GOLGA5 - - - HGNC - 4428 - - - OMIM - 606918 - - - SwissProt - Q8TBA6 - - - - - 14q32.12 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 25132659[PMID]_25648502[PMID]_25109485[PMID]_17891228[PMID] - - HRas proto-oncogene, GTPase - HRAS - - - - gene with protein product - - - - HGNC - 5173 - - - OMIM - 190020 - - - Reactome - P01112 - - - SwissProt - P01112 - - - Ensembl - ENSG00000174775 - - - Genatlas - HRAS - - - ClinVar - HRAS - - - IUPHAR - 2822 - - - - - 11p15.5 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 9172002[PMID]_9169129[PMID]_19883730[PMID] - - neurotrophic receptor tyrosine kinase 1 - NTRK1 - - MTC - TRK - TRKA - high affinity nerve growth factor receptor - tropomyosin receptor kinase A - - - gene with protein product - - - - ClinVar - NTRK1 - - - Ensembl - ENSG00000198400 - - - Genatlas - NTRK1 - - - HGNC - 8031 - - - IUPHAR - 1817 - - - OMIM - 191315 - - - Reactome - P04629 - - - SwissProt - P04629 - - - - - 1q23.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 10958784[PMID]_25069464[PMID]_25708358[PMID]_17891228[PMID] - - paired box 8 - PAX8 - - PAX-8 - - - gene with protein product - - - - Reactome - Q06710 - - - Ensembl - ENSG00000125618 - - - Genatlas - PAX8 - - - HGNC - 8622 - - - OMIM - 167415 - - - SwissProt - Q06710 - - - ClinVar - PAX8 - - - - - 2q14.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 10980597[PMID] - - pericentriolar material 1 - PCM1 - - PTC4 - - - gene with protein product - - - - Ensembl - ENSG00000078674 - - - Genatlas - PCM1 - - - HGNC - 8727 - - - OMIM - 600299 - - - Reactome - Q15154 - - - SwissProt - Q15154 - - - ClinVar - PCM1 - - - - - 8p22 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 24327398[PMID] - - ETS variant transcription factor 6 - ETV6 - - TEL - TEL oncogene - - - gene with protein product - - - - Reactome - P41212 - - - Ensembl - ENSG00000139083 - - - Genatlas - ETV6 - - - HGNC - 3495 - - - OMIM - 600618 - - - SwissProt - P41212 - - - ClinVar - ETV6 - - - - - 12p13.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 21730105[PMID] - - NK2 homeobox 1 - NKX2-1 - - TTF-1 - TTF1 - - - gene with protein product - - - - ClinVar - NKX2-1 - - - Reactome - P43699 - - - Ensembl - ENSG00000136352 - - - Genatlas - NKX2-1 - - - HGNC - 11825 - - - OMIM - 600635 - - - SwissProt - P43699 - - - - - 14q13.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 25501013[PMID]_25148236[PMID] - - ALK receptor tyrosine kinase - ALK - - ALK1 - CD246 - - - gene with protein product - - - - Reactome - Q9UM73 - - - ClinVar - ALK - - - Ensembl - ENSG00000171094 - - - Genatlas - ALK - - - HGNC - 427 - - - IUPHAR - 1839 - - - OMIM - 105590 - - - SwissProt - Q9UM73 - - - - - 2p23.2-p23.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 25132659[PMID]_25648502[PMID]_25109485[PMID]_17891228[PMID] - - NRAS proto-oncogene, GTPase - NRAS - - N-ras - - - gene with protein product - - - - HGNC - 7989 - - - OMIM - 164790 - - - Reactome - P01111 - - - SwissProt - P01111 - - - Ensembl - ENSG00000213281 - - - Genatlas - NRAS - - - ClinVar - NRAS - - - IUPHAR - 2823 - - - - - 1p13.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 24327398[PMID] - - neurotrophic receptor tyrosine kinase 3 - NTRK3 - - TRKC - - - gene with protein product - - - - Ensembl - ENSG00000140538 - - - Genatlas - NTRK3 - - - HGNC - 8033 - - - IUPHAR - 1819 - - - OMIM - 191316 - - - SwissProt - Q16288 - - - Reactome - Q16288 - - - ClinVar - NTRK3 - - - - - 15q25.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 8290261[PMID]_25407564[PMID] - - nuclear receptor coactivator 4 - NCOA4 - - ARA70 - DKFZp762E1112 - ELE1 - PTC3 - RET-activating gene ELE1 - RFG - - - gene with protein product - - - - Ensembl - ENSG00000266412 - - - Genatlas - NCOA4 - - - HGNC - 7671 - - - OMIM - 601984 - - - SwissProt - Q13772 - - - ClinVar - NCOA4 - - - - - 10q11.22 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 23894154[PMID] - - disrupted in renal carcinoma 3 - DIRC3 - - FLJ14199 - - - Non-coding RNA - - - - ClinVar - DIRC3 - - - Ensembl - ENSG00000231672 - - - Genatlas - DIRC3 - - - HGNC - 17805 - - - OMIM - 608262 - - - SwissProt - C9JPN6 - - - - - 2q35 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 15841082[PMID] - - NADH:ubiquinone oxidoreductase subunit A13 - NDUFA13 - - B16.6 - CDA016 - CGI-39 - GRIM-19 - GRIM19 - complex I B16.6 subunit - - - gene with protein product - - - - Ensembl - ENSG00000186010 - - - Genatlas - NDUFA13 - - - HGNC - 17194 - - - OMIM - 609435 - - - Reactome - Q9P0J0 - - - SwissProt - Q9P0J0 - - - ClinVar - NDUFA13 - - - - - 19p13.11 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 27875244[PMID]_27581851[PMID] - - telomerase reverse transcriptase - TERT - - EST2 - TCS1 - TP2 - TRT - hEST2 - - - gene with protein product - - - - Ensembl - ENSG00000164362 - - - Genatlas - TERT - - - HGNC - 11730 - - - OMIM - 187270 - - - Reactome - O14746 - - - SwissProt - O14746 - - - ClinVar - TERT - - - - - 5p15.33 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 26941397[PMID] - - GAS8 antisense RNA 1 - GAS8-AS1 - - - - Non-coding RNA - - - - ClinVar - C16orf3 - - - HGNC - 1197 - - - OMIM - 605179 - - - SwissProt - O95177 - - - Ensembl - ENSG00000221819 - - - Genatlas - C16orf3 - - - - - 16q24.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 26941397[PMID] - - lysophosphatidic acid receptor 4 - LPAR4 - - LPA4 - P2RY9 - P2Y5-LIKE - P2Y9 - - - gene with protein product - - - - HGNC - 4478 - - - IUPHAR - 94 - - - OMIM - 300086 - - - Genatlas - GPR23 - - - SwissProt - Q99677 - - - Reactome - Q99677 - - - Ensembl - ENSG00000147145 - - - ClinVar - GPR23 - - - - - Xq21.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 1331 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1331 - Familial prostate cancer - - Disease - - - Disorder - - - - 14961571[PMID] - - cadherin 1 - CDH1 - - CD324 - E-Cadherin - uvomorulin - - - gene with protein product - - - - Ensembl - ENSG00000039068 - - - Genatlas - CDH1 - - - HGNC - 1748 - - - OMIM - 192090 - - - Reactome - P12830 - - - SwissProt - P12830 - - - ClinVar - CDH1 - - - - - 16q22.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 19997100[PMID]_18264097[PMID]_19383797[PMID] - - microseminoprotein beta - MSMB - - IGBF - MSP - MSPB - PN44 - PRPS - PSP - PSP-94 - PSP57 - PSP94 - beta-microseminoprotein - - - gene with protein product - - - - Ensembl - ENSG00000263639 - - - Genatlas - MSMB - - - HGNC - 7372 - - - OMIM - 157145 - - - SwissProt - P08118 - - - ClinVar - MSMB - - - - - 10q11.22 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - RAD51 paralog D - RAD51D - - DNA repair protein RAD51 homolog 4 - HsTRAD - R51H3 - Recombination repair protein - Trad - recombination repair protein - - - gene with protein product - - - - Ensembl - ENSG00000185379 - - - Genatlas - RAD51D - - - HGNC - 9823 - - - OMIM - 602954 - - - Reactome - O75771 - - - SwissProt - O75771 - - - ClinVar - RAD51D - - - - - 17q12 - 1 - - - - - Biomarker tested in - - - Assessed - - - - 27989354[PMID] - - ATM serine/threonine kinase - ATM - - TEL1 - TEL1, telomere maintenance 1, homolog (S. cerevisiae) - TELO1 - - - gene with protein product - - - - ClinVar - ATM - - - SwissProt - Q13315 - - - Ensembl - ENSG00000149311 - - - Genatlas - ATM - - - HGNC - 795 - - - IUPHAR - 1934 - - - OMIM - 607585 - - - Reactome - Q13315 - - - - - 11q22.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - steroid 5 alpha-reductase 2 - SRD5A2 - - 3-oxo-5-alpha-steroid 4-dehydrogenase 2 - - - gene with protein product - - - - Ensembl - ENSG00000277893 - - - Genatlas - SRD5A2 - - - HGNC - 11285 - - - IUPHAR - 2633 - - - OMIM - 607306 - - - Reactome - P31213 - - - SwissProt - P31213 - - - ClinVar - SRD5A2 - - - - - 2p23.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 23141781[PMID] - - ribonuclease L - RNASEL - - - - gene with protein product - - - - ClinVar - RNASEL - - - Ensembl - ENSG00000135828 - - - Genatlas - RNASEL - - - HGNC - 10050 - - - OMIM - 180435 - - - Reactome - Q05823 - - - SwissProt - Q05823 - - - - - 1q25.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22974436[PMID]_12237281[PMID] - - BRCA1 DNA repair associated - BRCA1 - - BRCA1/BRCA2-containing complex, subunit 1 - BRCC1 - FANCS - Fanconi anemia, complementation group S - PPP1R53 - RNF53 - protein phosphatase 1, regulatory subunit 53 - - - gene with protein product - - - - Ensembl - ENSG00000012048 - - - Genatlas - BRCA1 - - - HGNC - 1100 - - - OMIM - 113705 - - - Reactome - P38398 - - - SwissProt - P38398 - - - ClinVar - BRCA1 - - - - - 17q21.31 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 17700570[PMID] - - BRCA2 DNA repair associated - BRCA2 - - BRCA1/BRCA2-containing complex, subunit 2 - BRCC2 - FAD - FAD1 - XRCC11 - - - gene with protein product - - - - SwissProt - P51587 - - - Ensembl - ENSG00000139618 - - - Genatlas - BRCA2 - - - HGNC - 1101 - - - OMIM - 600185 - - - Reactome - P51587 - - - ClinVar - BRCA2 - - - - - 13q13.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 12533788[PMID] - - checkpoint kinase 2 - CHEK2 - - CDS1 - CHK2 - HuCds1 - PP1425 - bA444G7 - - - gene with protein product - - - - Ensembl - ENSG00000183765 - - - Genatlas - CHEK2 - - - HGNC - 16627 - - - IUPHAR - 1988 - - - OMIM - 604373 - - - Reactome - O96017 - - - SwissProt - O96017 - - - ClinVar - CHEK2 - - - - - 22q12.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23141781[PMID] - - elaC ribonuclease Z 2 - ELAC2 - - FLJ10530 - HPC2 - tRNase Z (long form) - - - gene with protein product - - - - ClinVar - ELAC2 - - - Reactome - Q9BQ52 - - - SwissProt - Q9BQ52 - - - Ensembl - ENSG00000006744 - - - Genatlas - ELAC2 - - - HGNC - 14198 - - - OMIM - 605367 - - - - - 17p12 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 16155194[PMID] - - EPH receptor B2 - EPHB2 - - Hek5 - Tyro5 - - - gene with protein product - - - - Ensembl - ENSG00000133216 - - - Genatlas - EPHB2 - - - HGNC - 3393 - - - IUPHAR - 1831 - - - OMIM - 600997 - - - Reactome - P29323 - - - SwissProt - P29323 - - - ClinVar - EPHB2 - - - - - 1p36.12 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22864661[PMID]_14973119[PMID] - - nibrin - NBN - - AT-V1 - AT-V2 - ATV - - - gene with protein product - - - - Ensembl - ENSG00000104320 - - - Genatlas - NBN - - - HGNC - 7652 - - - OMIM - 602667 - - - Reactome - O60934 - - - SwissProt - O60934 - - - ClinVar - NBN - - - - - 8q21.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 18701471[PMID] - - HNF1 homeobox B - HNF1B - - HNF1beta - LFB3 - MODY5 - VHNF1 - HNF1ß - hepatocyte nuclear factor 1 beta - - - gene with protein product - - - - ClinVar - HNF1B - - - Ensembl - ENSG00000275410 - - - Genatlas - HNF1B - - - HGNC - 11630 - - - OMIM - 189907 - - - Reactome - P35680 - - - SwissProt - P35680 - - - - - 17q12 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22236224[PMID] - - homeobox B13 - HOXB13 - - - - gene with protein product - - - - ClinVar - HOXB13 - - - SwissProt - Q92826 - - - Ensembl - ENSG00000159184 - - - Genatlas - HOXB13 - - - HGNC - 5112 - - - OMIM - 604607 - - - - - 17q21.32 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 12244320[PMID]_23141781[PMID] - - macrophage scavenger receptor 1 - MSR1 - - SR-A - SR-AIII - SR-AII - SR-AI - CD204 - SCARA1 - - - gene with protein product - - - - ClinVar - MSR1 - - - Ensembl - ENSG00000038945 - - - Genatlas - MSR1 - - - HGNC - 7376 - - - OMIM - 153622 - - - Reactome - P21757 - - - SwissProt - P21757 - - - - - 8p22 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 847 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=847 - X-linked alpha-thalassemia-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - 20301622[PMID] - - ATRX chromatin remodeler - ATRX - - RAD54 homolog (S. cerevisiae) - XH2 - XNP - - - gene with protein product - - - - Ensembl - ENSG00000085224 - - - Genatlas - ATRX - - - HGNC - 886 - - - OMIM - 300032 - - - SwissProt - P46100 - - - Reactome - P46100 - - - ClinVar - ATRX - - - - - Xq21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2268 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2268 - ICF syndrome - - Malformation syndrome - - - Disorder - - - - 10588719[PMID] - - DNA methyltransferase 3 beta - DNMT3B - - - - gene with protein product - - - - ClinVar - DNMT3B - - - Ensembl - ENSG00000088305 - - - Genatlas - DNMT3B - - - HGNC - 2979 - - - OMIM - 602900 - - - Reactome - Q9UBC3 - - - SwissProt - Q9UBC3 - - - - - 20q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21906047[PMID] - - zinc finger and BTB domain containing 24 - ZBTB24 - - PATZ2 - POZ (BTB) and AT hook containing zinc finger 2 - BIF1 - KIAA0441 - - - gene with protein product - - - - ClinVar - ZBTB24 - - - Ensembl - ENSG00000112365 - - - Genatlas - ZBTB24 - - - HGNC - 21143 - - - OMIM - 614064 - - - SwissProt - O43167 - - - Reactome - O43167 - - - - - 6q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26216346[PMID] - - cell division cycle associated 7 - CDCA7 - - FLJ14736 - JPO1 - - - gene with protein product - - - - Genatlas - CDCA7 - - - HGNC - 14628 - - - OMIM - 609937 - - - SwissProt - Q9BWT1 - - - ClinVar - CDCA7 - - - Ensembl - ENSG00000144354 - - - - - 2q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26216346[PMID] - - helicase, lymphoid specific - HELLS - - LSH - Nbla10143 - PASG - SMARCA6 - SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6 - proliferation-associated SNF2-like protein - Senescence Associated Long Non-coding RNA - SALNR - - - gene with protein product - - - - Reactome - Q9NRZ9 - - - Ensembl - ENSG00000119969 - - - Genatlas - HELLS - - - HGNC - 4861 - - - OMIM - 603946 - - - SwissProt - Q9NRZ9 - - - ClinVar - HELLS - - - - - 10q23.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 36458887[PMID] - - ubiquitin like with PHD and ring finger domains 1 - UHRF1 - - RNF106 - FLJ21925 - Np95 - TDRD22 - ICBP90 - inverted CCAAT box binding protein 90 - - - gene with protein product - - - - Ensembl - ENSG00000276043 - - - OMIM - 607990 - - - HGNC - 12556 - - - SwissProt - Q96T88 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475 - Isolated Joubert syndrome - - Malformation syndrome - - - Disorder - - - - 27208211[PMID] - - centrosomal protein 120 - CEP120 - - FLJ36090 - - - gene with protein product - - - - ClinVar - CEP120 - - - Ensembl - ENSG00000168944 - - - Genatlas - CEP120 - - - HGNC - 26690 - - - OMIM - 613446 - - - SwissProt - Q8N960 - - - - - 5q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26167768[PMID] - - progesterone immunomodulatory binding factor 1 - PIBF1 - - PIBF - CEP90 - progesterone-induced blocking factor 1 - - - gene with protein product - - - - ClinVar - PIBF1 - - - HGNC - 23352 - - - Ensembl - ENSG00000083535 - - - SwissProt - Q8WXW3 - - - OMIM - 607532 - - - Genatlas - PIBF1 - - - - - 13q21.33-q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19800048[PMID] - - OFD1 centriole and centriolar satellite protein - OFD1 - - 71-7A - JBTS10 - Joubert syndrome type 10 - - - gene with protein product - - - - Ensembl - ENSG00000046651 - - - Genatlas - OFD1 - - - HGNC - 2567 - - - OMIM - 300170 - - - Reactome - O75665 - - - SwissProt - O75665 - - - ClinVar - OFD1 - - - - - Xp22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22883145[PMID] - - tectonic family member 3 - TCTN3 - - DKFZP564D116 - JBTS18 - TECT3 - - - gene with protein product - - - - ClinVar - TCTN3 - - - Ensembl - ENSG00000119977 - - - Genatlas - TCTN3 - - - HGNC - 24519 - - - OMIM - 613847 - - - Reactome - Q6NUS6 - - - SwissProt - Q6NUS6 - - - - - 10q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24166846[PMID] - - phosphodiesterase 6D - PDE6D - - JBTS22 - retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta - - - gene with protein product - - - - Ensembl - ENSG00000156973 - - - Genatlas - PDE6D - - - HGNC - 8788 - - - OMIM - 602676 - - - Reactome - O43924 - - - SwissProt - O43924 - - - IUPHAR - 1315 - - - ClinVar - PDE6D - - - - - 2q37.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28220259[PMID] - - KIAA0753 - KIAA0753 - - MNR - moonraker - OFD1 and FOPNL interacting protein - OFIP - OFD1 and FOR20 interacting protein - - - gene with protein product - - - - HGNC - 29110 - - - Ensembl - ENSG00000198920 - - - ClinVar - KIAA0753 - - - Reactome - Q2KHM9 - - - OMIM - 617112 - - - Genatlas - KIAA0753 - - - SwissProt - Q2KHM9 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33531668[PMID] - - intraflagellar transport 74 - IFT74 - - capillary morphogenesis protein 1 - CMG1 - CMG-1 - FLJ22621 - - - gene with protein product - - - - HGNC - 21424 - - - Reactome - Q96LB3 - - - Genatlas - IFT74 - - - Ensembl - ENSG00000096872 - - - ClinVar - IFT74 - - - OMIM - 608040 - - - SwissProt - Q96LB3 - - - - - 9p21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26092869[PMID] - - B9 domain containing 2 - B9D2 - - MGC4093 - MKS10 - MKSR-2 - - - gene with protein product - - - - ClinVar - B9D2 - - - Reactome - Q9BPU9 - - - SwissProt - Q9BPU9 - - - Ensembl - ENSG00000123810 - - - Genatlas - B9D2 - - - HGNC - 28636 - - - OMIM - 611951 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21565611[PMID] - - tectonic family member 2 - TCTN2 - - FLJ12975 - JBTS24 - MKS8 - Meckel syndrome, type 8 - TECT2 - - - gene with protein product - - - - ClinVar - TCTN2 - - - Ensembl - ENSG00000168778 - - - Genatlas - TCTN2 - - - HGNC - 25774 - - - OMIM - 613846 - - - Reactome - Q96GX1 - - - SwissProt - Q96GX1 - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22693042[PMID] - - Abelson helper integration site 1 - AHI1 - - FLJ20069 - JBTS3 - Jouberin - ORF1 - - - gene with protein product - - - - Ensembl - ENSG00000135541 - - - Genatlas - AHI1 - - - HGNC - 21575 - - - OMIM - 608894 - - - Reactome - Q8N157 - - - SwissProt - Q8N157 - - - ClinVar - AHI1 - - - - - 6q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17160906[PMID] - - transmembrane protein 67 - TMEM67 - - NPHP11 - JBTS6 - MGC26979 - Meckelin - - - gene with protein product - - - - ClinVar - TMEM67 - - - Ensembl - ENSG00000164953 - - - Genatlas - TMEM67 - - - HGNC - 28396 - - - OMIM - 609884 - - - Reactome - Q5HYA8 - - - SwissProt - Q5HYA8 - - - - - 8q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24886560[PMID] - - MKS transition zone complex subunit 1 - MKS1 - - BBS13 - FLJ20345 - POC12 - POC12 centriolar protein homolog (Chlamydomonas) - - - gene with protein product - - - - Ensembl - ENSG00000011143 - - - ClinVar - MKS1 - - - Genatlas - MKS1 - - - HGNC - 7121 - - - OMIM - 609883 - - - Reactome - Q9NXB0 - - - SwissProt - Q9NXB0 - - - - - 17q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18674751[PMID]_20301500[PMID] - - ARF like GTPase 13B - ARL13B - - DKFZp761H079 - JBTS8 - - - gene with protein product - - - - Ensembl - ENSG00000169379 - - - Genatlas - ARL13B - - - ClinVar - ARL13B - - - HGNC - 25419 - - - OMIM - 608922 - - - Reactome - Q3SXY8 - - - SwissProt - Q3SXY8 - - - - - 3q11.1-q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19668216[PMID] - - inositol polyphosphate-5-phosphatase E - INPP5E - - CORS1 - PPI5PIV - pharbin - Phosphatidylinositol polyphosphate 5-phosphatase type IV - - - gene with protein product - - - - Ensembl - ENSG00000148384 - - - Genatlas - INPP5E - - - HGNC - 21474 - - - OMIM - 613037 - - - Reactome - Q9NRR6 - - - SwissProt - Q9NRR6 - - - ClinVar - INPP5E - - - IUPHAR - 1456 - - - - - 9q34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21725307[PMID]_20301500[PMID] - - tectonic family member 1 - TCTN1 - - FLJ21127 - JBTS13 - TECT1 - - - gene with protein product - - - - Ensembl - ENSG00000204852 - - - Genatlas - TCTN1 - - - HGNC - 26113 - - - OMIM - 609863 - - - Reactome - Q2MV58 - - - SwissProt - Q2MV58 - - - ClinVar - TCTN1 - - - - - 12q24.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24886560[PMID] - - B9 domain containing 1 - B9D1 - - B9 - EPPB9 - MKS9 - endothelial precursor protein B9 - MKSR-1 - - - gene with protein product - - - - Ensembl - ENSG00000108641 - - - Genatlas - B9D1 - - - HGNC - 24123 - - - OMIM - 614144 - - - Reactome - Q9UPM9 - - - SwissProt - Q9UPM9 - - - ClinVar - B9D1 - - - - - 17p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22693042[PMID]_22152675[PMID] - - transmembrane protein 237 - TMEM237 - - JBTS14 - - - gene with protein product - - - - Ensembl - ENSG00000155755 - - - Genatlas - TMEM237 - - - HGNC - 14432 - - - OMIM - 614423 - - - SwissProt - Q96Q45 - - - ClinVar - TMEM237 - - - - - 2q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22246503[PMID] - - centrosomal protein 41 - CEP41 - - DKFZp762H1311 - FLJ22445 - JBTS15 - - - gene with protein product - - - - Ensembl - ENSG00000106477 - - - Genatlas - CEP41 - - - HGNC - 12370 - - - OMIM - 610523 - - - Reactome - Q9BYV8 - - - SwissProt - Q9BYV8 - - - ClinVar - CEP41 - - - - - 7q32.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22425360[PMID]_22693042[PMID] - - ciliogenesis and planar polarity effector complex subunit 1 - CPLANE1 - - Heart Under Glass - FLJ13231 - Hug - JBTS17 - - - gene with protein product - - - - Ensembl - ENSG00000197603 - - - Genatlas - C5orf42 - - - HGNC - 25801 - - - OMIM - 614571 - - - SwissProt - Q9H799 - - - ClinVar - C5orf42 - - - - - 5p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24360808[PMID]_24360803[PMID] - - centrosome and spindle pole associated protein 1 - CSPP1 - - CSPP - FLJ22490 - JBTS21 - CSPP-L - - - gene with protein product - - - - ClinVar - CSPP1 - - - Ensembl - ENSG00000104218 - - - Genatlas - CSPP1 - - - HGNC - 26193 - - - OMIM - 611654 - - - SwissProt - Q1MSJ5 - - - - - 8q13.1-q13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 26096313[PMID] - - KIAA0586 - KIAA0586 - - JBTS23 - Talpid3 - - - gene with protein product - - - - ClinVar - KIAA0586 - - - Ensembl - ENSG00000100578 - - - Genatlas - KIAA0586 - - - HGNC - 19960 - - - OMIM - 610178 - - - SwissProt - Q9BVV6 - - - - - 14q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26477546[PMID] - - centrosomal protein 104 - CEP104 - - CFAP256 - GlyBP - JBTS25 - ROC22 - RP1-286D6.4 - glycine, glutamate, thienylcyclohexylpiperidine binding protein - - - gene with protein product - - - - Ensembl - ENSG00000116198 - - - Genatlas - CEP104 - - - HGNC - 24866 - - - OMIM - 616690 - - - SwissProt - O60308 - - - ClinVar - CEP104 - - - - - 1p36.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26714646[PMID] - - katanin interacting protein - KATNIP - - JBTS26 - KATNIP - - - gene with protein product - - - - Ensembl - ENSG00000047578 - - - Genatlas - KIAA0556 - - - HGNC - 29068 - - - OMIM - 616650 - - - SwissProt - O60303 - - - ClinVar - KIAA0556 - - - - - 16p12.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 33024317[PMID] - - SUFU negative regulator of hedgehog signaling - SUFU - - PRO1280 - SUFUH - SUFUXL - - - gene with protein product - - - - Reactome - Q9UMX1 - - - SwissProt - Q9UMX1 - - - Ensembl - ENSG00000107882 - - - Genatlas - SUFU - - - HGNC - 16466 - - - OMIM - 607035 - - - ClinVar - SUFU - - - - - 10q24.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28625504[PMID] - - armadillo repeat containing 9 - ARMC9 - - ARM - FLJ12584 - KIAA1868 - KU-MEL-1 - - - gene with protein product - - - - HGNC - 20730 - - - Ensembl - ENSG00000135931 - - - SwissProt - Q7Z3E5 - - - OMIM - 617612 - - - Genatlas - ARMC9 - - - ClinVar - ARMC9 - - - - - 2q37.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33131181[PMID] - - chibby 1, beta catenin antagonist - CBY1 - - Cby - PIGEA14 - PIGEA-14 - Chibby1 - Chibby - chibby CTNNB1-mediated transcription inhibitor - - - gene with protein product - - - - SwissProt - Q9Y3M2 - - - Ensembl - ENSG00000100211 - - - OMIM - 607757 - - - HGNC - 1307 - - - - - 22q13.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 26830932[PMID] - - HYLS1 centriolar and ciliogenesis associated - HYLS1 - - FLJ32915 - - - gene with protein product - - - - Reactome - Q96M11 - - - ClinVar - HYLS1 - - - Ensembl - ENSG00000198331 - - - Genatlas - HYLS1 - - - HGNC - 26558 - - - OMIM - 610693 - - - SwissProt - Q96M11 - - - - - 11q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32453716[PMID] - - TOG array regulator of axonemal microtubules 1 - TOGARAM1 - - crescerin - Crescerin-1 - - - gene with protein product - - - - Ensembl - ENSG00000198718 - - - OMIM - 617618 - - - SwissProt - Q9Y4F4 - - - HGNC - 19959 - - - - - 14q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33791682[PMID] - - transmembrane protein 218 - TMEM218 - - - - gene with protein product - - - - Ensembl - ENSG00000150433 - - - OMIM - 619285 - - - SwissProt - A2RU14 - - - HGNC - 27344 - - - - - 11q24.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 30269812[PMID] - - ARF like GTPase 3 - ARL3 - - ARFL3 - - - gene with protein product - - - - SwissProt - P36405 - - - OMIM - 604695 - - - Genatlas - ARL3 - - - Reactome - P36405 - - - HGNC - 694 - - - Ensembl - ENSG00000138175 - - - ClinVar - ARL3 - - - - - 10q24.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392 - Holt-Oram syndrome - - Malformation syndrome - - - Disorder - - - - 20301290[PMID] - - T-box transcription factor 5 - TBX5 - - - - gene with protein product - - - - Ensembl - ENSG00000089225 - - - Genatlas - TBX5 - - - HGNC - 11604 - - - OMIM - 601620 - - - Reactome - Q99593 - - - SwissProt - Q99593 - - - ClinVar - TBX5 - - - - - 12q24.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 86 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86 - Familial abdominal aortic aneurysm - - Disease - - - Disorder - - - - 2243125[PMID]_10388642[PMID] - - collagen type III alpha 1 chain - COL3A1 - - - - gene with protein product - - - - ClinVar - COL3A1 - - - Ensembl - ENSG00000168542 - - - Genatlas - COL3A1 - - - HGNC - 2201 - - - OMIM - 120180 - - - Reactome - P02461 - - - SwissProt - P02461 - - - - - 2q32.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243 - 46,XX gonadal dysgenesis - - Malformation syndrome - - - Disorder - - - - - - nuclear receptor subfamily 5 group A member 1 - NR5A1 - - AD4BP - ELP - FTZ1 - SF-1 - hSF-1 - steroidogenic factor 1 - SF1 - - - gene with protein product - - - - ClinVar - NR5A1 - - - Ensembl - ENSG00000136931 - - - Genatlas - NR5A1 - - - HGNC - 7983 - - - IUPHAR - 632 - - - OMIM - 184757 - - - Reactome - Q13285 - - - SwissProt - Q13285 - - - - - 9q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18499083[PMID] - - folliculogenesis specific bHLH transcription factor - FIGLA - - - - gene with protein product - - - - HGNC - 24669 - - - - - 2p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29566152[PMID] - - mitochondrial ribosomal protein S22 - MRPS22 - - GIBT - GK002 - MRP-S22 - mS22 - C3orf5 - - - gene with protein product - - - - Ensembl - ENSG00000175110 - - - Genatlas - MRPS22 - - - HGNC - 14508 - - - OMIM - 605810 - - - Reactome - P82650 - - - ClinVar - MRPS22 - - - SwissProt - P82650 - - - - - 3q23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 7553856[PMID]_11889179[PMID]_12571157[PMID] - - follicle stimulating hormone receptor - FSHR - - FSHRO - LGR1 - - - gene with protein product - - - - Ensembl - ENSG00000170820 - - - Genatlas - FSHR - - - HGNC - 3969 - - - IUPHAR - 253 - - - OMIM - 136435 - - - Reactome - P23945 - - - SwissProt - P23945 - - - ClinVar - FSHR - - - - - 2p16.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 15136966[PMID] - - bone morphogenetic protein 15 - BMP15 - - GDF9B - - - gene with protein product - - - - ClinVar - BMP15 - - - Reactome - O95972 - - - Ensembl - ENSG00000130385 - - - Genatlas - BMP15 - - - HGNC - 1068 - - - OMIM - 300247 - - - SwissProt - O95972 - - - - - Xp11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21963259[PMID] - - PSMC3 interacting protein - PSMC3IP - - GT198 - HUMGT198A - Hop2 - TBP-1 interacting protein - TBPIP - homologous-pairing protein 2 homolog - - - gene with protein product - - - - ClinVar - PSMC3IP - - - Ensembl - ENSG00000131470 - - - Genatlas - PSMC3IP - - - HGNC - 17928 - - - OMIM - 608665 - - - Reactome - Q9P2W1 - - - SwissProt - Q9P2W1 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26485283[PMID] - - nucleoporin 107 - NUP107 - - NUP84 - nuclear pore complex protein Nup107 - - - gene with protein product - - - - Ensembl - ENSG00000111581 - - - Genatlas - NUP107 - - - HGNC - 29914 - - - OMIM - 607617 - - - Reactome - P57740 - - - SwissProt - P57740 - - - ClinVar - NUP107 - - - - - 12q15 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30010909[PMID] - - basonuclin zinc finger protein 1 - BNC1 - - HsT19447 - BSN1 - bn1 - - - gene with protein product - - - - HGNC - 1081 - - - Ensembl - ENSG00000169594 - - - SwissProt - Q01954 - - - OMIM - 601930 - - - - - 15q25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34402903[PMID] - - zinc finger SWIM-type containing 7 - ZSWIM7 - - SWS1 - SWIM domain containing Srs2 interacting protein 1 - - - gene with protein product - - - - HGNC - 26993 - - - Ensembl - ENSG00000214941 - - - OMIM - 614535 - - - SwissProt - Q19AV6 - - - - - 17p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30830215[PMID] - - RNA polymerase III subunit H - POLR3H - - C25 - RPC8 - KIAA1665 - - - gene with protein product - - - - OMIM - 619801 - - - HGNC - 30349 - - - Ensembl - ENSG00000100413 - - - SwissProt - Q9Y535 - - - Reactome - Q9Y535 - - - - - 22q13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 28541421[PMID] - - mutS homolog 4 - MSH4 - - - - gene with protein product - - - - SwissProt - O15457 - - - Ensembl - ENSG00000057468 - - - ClinVar - MSH4 - - - Genatlas - MSH4 - - - OMIM - 602105 - - - HGNC - 7327 - - - - - 1p31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27967308[PMID] - - scaffold protein involved in DNA repair - SPIDR - - - - gene with protein product - - - - HGNC - 28971 - - - Ensembl - ENSG00000164808 - - - SwissProt - Q14159 - - - OMIM - 615384 - - - Genatlas - SPIDR - - - Reactome - Q14159 - - - ClinVar - SPIDR - - - - - 8q11.21 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=136 - Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy - - Disease - - - Disorder - - - - 20301673[PMID] - - notch receptor 3 - NOTCH3 - - CASIL - - - gene with protein product - - - - Ensembl - ENSG00000074181 - - - Genatlas - NOTCH3 - - - HGNC - 7883 - - - OMIM - 600276 - - - Reactome - Q9UM47 - - - SwissProt - Q9UM47 - - - ClinVar - NOTCH3 - - - IUPHAR - 2860 - - - - - 19p13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 48 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48 - Congenital bilateral absence of vas deferens - - Morphological anomaly - - - Disorder - - - - 27476656[PMID] - - adhesion G protein-coupled receptor G2 - ADGRG2 - - EDDM6 - epididymal protein 6 - HE6 - TM7LN2 - - - gene with protein product - - - - HGNC - 4516 - - - OMIM - 300572 - - - SwissProt - Q8IZP9 - - - ClinVar - ADGRG2 - - - Genatlas - ADGRG2 - - - Ensembl - ENSG00000173698 - - - IUPHAR - 187 - - - - - Xp22.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 7539342[PMID]_10651488[PMID] - - CF transmembrane conductance regulator - CFTR - - MRP7 - TNR-CFTR - dJ760C5.1 - ABC35 - ATP-binding cassette sub-family C, member 7 - CFTR/MRP - - - gene with protein product - - - - Ensembl - ENSG00000001626 - - - Genatlas - CFTR - - - HGNC - 1884 - - - IUPHAR - 707 - - - OMIM - 602421 - - - Reactome - P13569 - - - SwissProt - P13569 - - - ClinVar - CFTR - - - - - 7q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528 - Congenital generalized lipodystrophy - - Disease - - - Disorder - - - - 24980513[PMID] - - peroxisome proliferator activated receptor gamma - PPARG - - PPARG2 - PPARgamma - NR1C3 - PPARG1 - - - gene with protein product - - - - Ensembl - ENSG00000132170 - - - Genatlas - PPARG - - - ClinVar - PPARG - - - HGNC - 9236 - - - IUPHAR - 595 - - - OMIM - 601487 - - - Reactome - P37231 - - - SwissProt - P37231 - - - - - 3p25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23919306[PMID] - - Fos proto-oncogene, AP-1 transcription factor subunit - FOS - - AP-1 - c-fos - - - gene with protein product - - - - Ensembl - ENSG00000170345 - - - Genatlas - FOS - - - HGNC - 3796 - - - OMIM - 164810 - - - Reactome - P01100 - - - SwissProt - P01100 - - - ClinVar - FOS - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275 - Severe combined immunodeficiency due to DCLRE1C deficiency - - Disease - - - Disorder - - - - 12055248[PMID] - - DNA cross-link repair 1C - DCLRE1C - - A-SCID - ARTEMIS - FLJ11360 - PSO2 homolog (S. cerevisiae) - SNM1C - - - gene with protein product - - - - Ensembl - ENSG00000152457 - - - Genatlas - DCLRE1C - - - HGNC - 17642 - - - OMIM - 605988 - - - Reactome - Q96SD1 - - - SwissProt - Q96SD1 - - - ClinVar - DCLRE1C - - - - - 10p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=184 - Cherubism - - Malformation syndrome - - - Disorder - - - - - - SH3 domain binding protein 2 - SH3BP2 - - CRBM - RES4-23 - - - gene with protein product - - - - ClinVar - SH3BP2 - - - SwissProt - P78314 - - - Ensembl - ENSG00000087266 - - - Genatlas - SH3BP2 - - - HGNC - 10825 - - - OMIM - 602104 - - - Reactome - P78314 - - - - - 4p16.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 71 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71 - Chylomicron retention disease - - Disease - - - Disorder - - - - 21235735[PMID]_18786134[PMID] - - secretion associated Ras related GTPase 1B - SAR1B - - - - gene with protein product - - - - ClinVar - SAR1B - - - Ensembl - ENSG00000152700 - - - Genatlas - SAR1B - - - HGNC - 10535 - - - OMIM - 607690 - - - Reactome - Q9Y6B6 - - - SwissProt - Q9Y6B6 - - - - - 5q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1949 - Self-limited neonatal epilepsy - - Disease - - - Disorder - - - - 20437616[PMID]_24375629[PMID] - - potassium voltage-gated channel subfamily Q member 2 - KCNQ2 - - BFNC - ENB1 - HNSPC - KCNA11 - Kv7.2 - - - gene with protein product - - - - ClinVar - KCNQ2 - - - Ensembl - ENSG00000075043 - - - Genatlas - KCNQ2 - - - HGNC - 6296 - - - IUPHAR - 561 - - - OMIM - 602235 - - - Reactome - O43526 - - - SwissProt - O43526 - - - - - 20q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24851285[PMID]_24375629[PMID] - - potassium voltage-gated channel subfamily Q member 3 - KCNQ3 - - Kv7.3 - - - gene with protein product - - - - ClinVar - KCNQ3 - - - Ensembl - ENSG00000184156 - - - Genatlas - KCNQ3 - - - HGNC - 6297 - - - IUPHAR - 562 - - - OMIM - 602232 - - - Reactome - O43525 - - - SwissProt - O43525 - - - - - 8q24.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189 - Hidrotic ectodermal dysplasia - - Disease - - - Disorder - - - - 11017065[PMID]_11874494[PMID] - - gap junction protein beta 6 - GJB6 - - CX30 - EDH - HED - connexin 30 - - - gene with protein product - - - - ClinVar - GJB6 - - - Ensembl - ENSG00000121742 - - - Genatlas - GJB6 - - - HGNC - 4288 - - - OMIM - 604418 - - - Reactome - O95452 - - - SwissProt - O95452 - - - IUPHAR - 717 - - - - - 13q12.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1473 - Uveal coloboma-cleft lip and palate-intellectual disability - - Malformation syndrome - - - Disorder - - - - 24462371[PMID] - - Yes1 associated transcriptional regulator - YAP1 - - YAP-1 - YAP65 - - - gene with protein product - - - - Ensembl - ENSG00000137693 - - - Genatlas - YAP1 - - - HGNC - 16262 - - - OMIM - 606608 - - - Reactome - P46937 - - - SwissProt - P46937 - - - ClinVar - YAP1 - - - - - 11q22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 1344 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1344 - Isolated atrial standstill - - Disease - - - Disorder - - - - 12522116[PMID] - - sodium voltage-gated channel alpha subunit 5 - SCN5A - - CDCD2 - CMPD2 - HB1 - HB2 - HBBD - HH1 - ICCD - IVF - LQT3 - Nav1.5 - PFHB1 - SSS1 - long QT syndrome 3 - - - gene with protein product - - - - ClinVar - SCN5A - - - Ensembl - ENSG00000183873 - - - Genatlas - SCN5A - - - HGNC - 10593 - - - IUPHAR - 582 - - - OMIM - 600163 - - - Reactome - Q14524 - - - SwissProt - Q14524 - - - - - 3p22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23275345[PMID] - - natriuretic peptide A - NPPA - - - - gene with protein product - - - - Ensembl - ENSG00000175206 - - - Genatlas - NPPA - - - HGNC - 7939 - - - OMIM - 108780 - - - Reactome - P01160 - - - SwissProt - P01160 - - - ClinVar - NPPA - - - - - 1p36.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 182050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182050 - MYH9-related syndromic thrombocytopenia - - Disease - - - Disorder - - - - - - myosin heavy chain 9 - MYH9 - - EPSTS - FTNS - MHA - NMHC-II-A - NMMHCA - nonmuscle myosin heavy chain II-A - - - gene with protein product - - - - ClinVar - MYH9 - - - Ensembl - ENSG00000100345 - - - Genatlas - MYH9 - - - HGNC - 7579 - - - OMIM - 160775 - - - Reactome - P35579 - - - SwissProt - P35579 - - - - - 22q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3103 - Roberts syndrome - - Malformation syndrome - - - Disorder - - - - 20301332[PMID] - - establishment of sister chromatid cohesion N-acetyltransferase 2 - ESCO2 - - EFO2 - - - gene with protein product - - - - Ensembl - ENSG00000171320 - - - Genatlas - ESCO2 - - - HGNC - 27230 - - - OMIM - 609353 - - - Reactome - Q56NI9 - - - SwissProt - Q56NI9 - - - ClinVar - ESCO2 - - - - - 8p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 181428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181428 - Familial Hyperalphalipoproteinemia - - Biological anomaly - - - Disorder - - - - 34207236[PMID] - - cholesteryl ester transfer protein - CETP - - BPI fold containing family F - BPIFF - - - gene with protein product - - - - IUPHAR - 3248 - - - Ensembl - ENSG00000087237 - - - Genatlas - CETP - - - HGNC - 1869 - - - OMIM - 118470 - - - Reactome - P11597 - - - SwissProt - P11597 - - - ClinVar - CETP - - - - - 16q13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23701270[PMID] - - apolipoprotein C3 - APOC3 - - Apo-CIII - APOCIII - Apo-C3 - ApoC-III - ApoC-3 - - - gene with protein product - - - - ClinVar - APOC3 - - - Ensembl - ENSG00000110245 - - - Genatlas - APOC3 - - - HGNC - 610 - - - OMIM - 107720 - - - Reactome - P02656 - - - SwissProt - P02656 - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 21480869[PMID] - - scavenger receptor class B member 1 - SCARB1 - - CLA-1 - SRB1 - SR-BI - CLA1 - - - gene with protein product - - - - Ensembl - ENSG00000073060 - - - OMIM - 601040 - - - SwissProt - Q8WTV0 - - - HGNC - 1664 - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709 - Peters plus syndrome - - Malformation syndrome - - - Disorder - - - - 20301637[PMID] - - beta 3-glucosyltransferase - B3GLCT - - B3GTL - B3Glc-T - beta-1,3-glucosyltransferase - - - gene with protein product - - - - ClinVar - B3GALTL - - - Ensembl - ENSG00000187676 - - - Genatlas - B3GALTL - - - HGNC - 20207 - - - OMIM - 610308 - - - Reactome - Q6Y288 - - - SwissProt - Q6Y288 - - - - - 13q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=776 - Lujan-Fryns syndrome - - Malformation syndrome - - - Disorder - - - - 17369503[PMID] - - mediator complex subunit 12 - MED12 - - CAGH45 - HOPA - KIAA0192 - OKS - OPA1 - TRAP230 - ARC240 - Kto - Kohtalo homolog - - - gene with protein product - - - - Ensembl - ENSG00000184634 - - - Genatlas - MED12 - - - HGNC - 11957 - - - OMIM - 300188 - - - Reactome - Q93074 - - - SwissProt - Q93074 - - - ClinVar - MED12 - - - - - Xq13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23506379[PMID]_17436253[PMID] - - zDHHC palmitoyltransferase 9 - ZDHHC9 - - Zinc finger protein 380 - Zinc finger protein 379 - CGI-89 - ZNF379 - ZNF380 - DHHC9 - - - gene with protein product - - - - ClinVar - ZDHHC9 - - - Ensembl - ENSG00000188706 - - - Genatlas - ZDHHC9 - - - HGNC - 18475 - - - OMIM - 300646 - - - SwissProt - Q9Y397 - - - - - Xq26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17704778[PMID] - - UPF3B regulator of nonsense mediated mRNA decay - UPF3B - - HUPF3B - RENT3B - UPF3X - MRX82 - - - gene with protein product - - - - Ensembl - ENSG00000125351 - - - Genatlas - UPF3B - - - HGNC - 20439 - - - OMIM - 300298 - - - Reactome - Q9BZI7 - - - SwissProt - Q9BZI7 - - - ClinVar - UPF3B - - - - - Xq24 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=902 - Werner syndrome - - Disease - - - Disorder - - - - 20301687[PMID]_16673358[PMID] - - WRN RecQ like helicase - WRN - - RECQ3 - RECQL2 - - - gene with protein product - - - - ClinVar - WRN - - - OMIM - 604611 - - - Reactome - Q14191 - - - SwissProt - Q14191 - - - Ensembl - ENSG00000165392 - - - Genatlas - WRN - - - HGNC - 12791 - - - IUPHAR - 3259 - - - - - 8p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 888 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=888 - Van der Woude syndrome - - Malformation syndrome - - - Disorder - - - - - - interferon regulatory factor 6 - IRF6 - - OFC6 - VWS1 - - - gene with protein product - - - - ClinVar - IRF6 - - - Ensembl - ENSG00000117595 - - - Genatlas - IRF6 - - - HGNC - 6121 - - - OMIM - 607199 - - - Reactome - O14896 - - - SwissProt - O14896 - - - - - 1q32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24360809[PMID] - - grainyhead like transcription factor 3 - GRHL3 - - SOM - sister-of-mammalian grainyhead - - - gene with protein product - - - - Reactome - Q8TE85 - - - Ensembl - ENSG00000158055 - - - Genatlas - GRHL3 - - - HGNC - 25839 - - - OMIM - 608317 - - - SwissProt - Q8TE85 - - - ClinVar - GRHL3 - - - - - 1p36.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 871 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=871 - Hereditary progressive cardiac conduction defect - - Disease - - - Disorder - - - - 18464934[PMID] - - sodium voltage-gated channel beta subunit 1 - SCN1B - - - - gene with protein product - - - - ClinVar - SCN1B - - - Ensembl - ENSG00000105711 - - - Genatlas - SCN1B - - - HGNC - 10586 - - - OMIM - 600235 - - - Reactome - Q07699 - - - SwissProt - Q07699 - - - - - 19q13.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 12598077[PMID]_19251209[PMID]_22717692[PMID] - - sodium voltage-gated channel alpha subunit 5 - SCN5A - - CDCD2 - CMPD2 - HB1 - HB2 - HBBD - HH1 - ICCD - IVF - LQT3 - Nav1.5 - PFHB1 - SSS1 - long QT syndrome 3 - - - gene with protein product - - - - ClinVar - SCN5A - - - Ensembl - ENSG00000183873 - - - Genatlas - SCN5A - - - HGNC - 10593 - - - IUPHAR - 582 - - - OMIM - 600163 - - - Reactome - Q14524 - - - SwissProt - Q14524 - - - - - 3p22.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22179962[PMID] - - NK2 homeobox 5 - NKX2-5 - - tinman paralog (Drosophila) - CSX1 - NKX2.5 - NKX4-1 - tinman (Drosophila) homolog - - - gene with protein product - - - - Reactome - P52952 - - - SwissProt - P52952 - - - Ensembl - ENSG00000183072 - - - Genatlas - NKX2-5 - - - HGNC - 2488 - - - OMIM - 600584 - - - ClinVar - NKX2-5 - - - - - 5q35.1 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 19726882[PMID]_20562447[PMID] - - transient receptor potential cation channel subfamily M member 4 - TRPM4 - - FLJ20041 - - - gene with protein product - - - - ClinVar - TRPM4 - - - Reactome - Q8TD43 - - - SwissProt - Q8TD43 - - - Ensembl - ENSG00000130529 - - - Genatlas - TRPM4 - - - HGNC - 17993 - - - IUPHAR - 496 - - - OMIM - 606936 - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 1587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1587 - Monosomy 13q14 syndrome - - Malformation syndrome - - - Disorder - - - - 21505449[PMID] - - RB transcriptional corepressor 1 - RB1 - - PPP1R130 - RB - prepro-retinoblastoma-associated protein - protein phosphatase 1, regulatory subunit 130 - - - gene with protein product - - - - ClinVar - RB1 - - - SwissProt - P06400 - - - Ensembl - ENSG00000139687 - - - Genatlas - RB1 - - - HGNC - 9884 - - - OMIM - 614041 - - - Reactome - P06400 - - - - - 13q14.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 1627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1627 - Deletion 5q35 syndrome - - Malformation syndrome - - - Disorder - - - - 17910075[PMID] - - NK2 homeobox 5 - NKX2-5 - - tinman paralog (Drosophila) - CSX1 - NKX2.5 - NKX4-1 - tinman (Drosophila) homolog - - - gene with protein product - - - - Reactome - P52952 - - - SwissProt - P52952 - - - Ensembl - ENSG00000183072 - - - Genatlas - NKX2-5 - - - HGNC - 2488 - - - OMIM - 600584 - - - ClinVar - NKX2-5 - - - - - 5q35.1 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 17910075[PMID] - - nuclear receptor binding SET domain protein 1 - NSD1 - - ARA267 - FLJ22263 - KMT3B - histone-lysine N-methyltransferase, H3 lysine-36 specific - - - gene with protein product - - - - ClinVar - NSD1 - - - IUPHAR - 2696 - - - Ensembl - ENSG00000165671 - - - Genatlas - NSD1 - - - HGNC - 14234 - - - OMIM - 606681 - - - Reactome - Q96L73 - - - SwissProt - Q96L73 - - - - - 5q35.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500 - Noonan syndrome with multiple lentigines - - Malformation syndrome - - - Disorder - - - - 20301557[PMID] - - protein tyrosine phosphatase non-receptor type 11 - PTPN11 - - BPTP3 - PTP2C - SH-PTP2 - SHP-2 - SHP2 - SH2 domain-containing protein tyrosine phosphatase 2 - - - gene with protein product - - - - ClinVar - PTPN11 - - - Ensembl - ENSG00000179295 - - - Genatlas - PTPN11 - - - HGNC - 9644 - - - OMIM - 176876 - - - Reactome - Q06124 - - - SwissProt - Q06124 - - - IUPHAR - 3203 - - - - - 12q24.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301557[PMID] - - B-Raf proto-oncogene, serine/threonine kinase - BRAF - - BRAF1 - BRAF-1 - - - gene with protein product - - - - Ensembl - ENSG00000157764 - - - Genatlas - BRAF - - - HGNC - 1097 - - - IUPHAR - 1943 - - - OMIM - 164757 - - - Reactome - P15056 - - - SwissProt - P15056 - - - ClinVar - BRAF - - - - - 7q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301557[PMID] - - Raf-1 proto-oncogene, serine/threonine kinase - RAF1 - - C-Raf proto-oncogene, serine/threonine kinase - CRAF - Raf-1 - c-Raf - - - gene with protein product - - - - ClinVar - RAF1 - - - Ensembl - ENSG00000132155 - - - Genatlas - RAF1 - - - HGNC - 9829 - - - IUPHAR - 2184 - - - OMIM - 164760 - - - Reactome - P04049 - - - SwissProt - P04049 - - - - - 3p25.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=233 - Duane retraction syndrome - - Malformation syndrome - - - Disorder - - - - 18653847[PMID] - - chimerin 1 - CHN1 - - ARHGAP2 - Chimerin 1 (GTPase-activating protein, rho, 2) - RhoGAP2 - chimaerin 1 - n-chimerin - - - gene with protein product - - - - Ensembl - ENSG00000128656 - - - Genatlas - CHN1 - - - HGNC - 1943 - - - OMIM - 118423 - - - Reactome - P15882 - - - SwissProt - P15882 - - - ClinVar - CHN1 - - - - - 2q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27181683[PMID] - - MAF bZIP transcription factor B - MAFB - - - - gene with protein product - - - - Ensembl - ENSG00000204103 - - - Genatlas - MAFB - - - HGNC - 6408 - - - OMIM - 608968 - - - Reactome - Q9Y5Q3 - - - SwissProt - Q9Y5Q3 - - - ClinVar - MAFB - - - - - 20q12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23687435[PMID] - - spalt like transcription factor 4 - SALL4 - - ZNF797 - dJ1112F19.1 - - - gene with protein product - - - - ClinVar - SALL4 - - - Ensembl - ENSG00000101115 - - - Genatlas - SALL4 - - - HGNC - 15924 - - - OMIM - 607343 - - - Reactome - Q9UJQ4 - - - SwissProt - Q9UJQ4 - - - - - 20q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2495 - Meningioma - - Disease - - - Disorder - - - - 20930055[PMID] - - SWI/SNF related BAF chromatin remodeling complex subunit B1 - SMARCB1 - - BAF47 - Ini1 - PPP1R144 - RDT - Sfh1p - Snr1 - hSNFS - integrase interactor 1 - malignant rhabdoid tumor suppressor - protein phosphatase 1, regulatory subunit 144 - sucrose nonfermenting, yeast, homolog-like 1 - INI-1 - SNF5 - - - gene with protein product - - - - ClinVar - SMARCB1 - - - Reactome - Q12824 - - - SwissProt - Q12824 - - - Ensembl - ENSG00000099956 - - - Genatlas - SMARCB1 - - - HGNC - 11103 - - - OMIM - 601607 - - - - - 22q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 2212004[PMID] - - platelet derived growth factor subunit B - PDGFB - - SSV - becaplermin - oncogene SIS - - - gene with protein product - - - - ClinVar - PDGFB - - - Ensembl - ENSG00000100311 - - - Genatlas - PDGFB - - - HGNC - 8800 - - - OMIM - 190040 - - - Reactome - P01127 - - - SwissProt - P01127 - - - - - 22q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22958902[PMID] - - SUFU negative regulator of hedgehog signaling - SUFU - - PRO1280 - SUFUH - SUFUXL - - - gene with protein product - - - - Reactome - Q9UMX1 - - - SwissProt - Q9UMX1 - - - Ensembl - ENSG00000107882 - - - Genatlas - SUFU - - - HGNC - 16466 - - - OMIM - 607035 - - - ClinVar - SUFU - - - - - 10q24.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 8162072[PMID] - - NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor - NF2 - - Merlin - moesin-ezrin-radixin like - schwannomin - ACN - BANF - SCH - merlin-1 - bilateral acoustic neurofibromatosis - merlin - - - gene with protein product - - - - Ensembl - ENSG00000186575 - - - Genatlas - NF2 - - - HGNC - 7773 - - - OMIM - 607379 - - - Reactome - P35240 - - - SwissProt - P35240 - - - ClinVar - NF2 - - - - - 22q12.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 26826201[PMID] - - phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha - PIK3CA - - PI3K - - - gene with protein product - - - - Reactome - P42336 - - - SwissProt - P42336 - - - Ensembl - ENSG00000121879 - - - Genatlas - PIK3CA - - - HGNC - 8975 - - - IUPHAR - 2153 - - - OMIM - 171834 - - - ClinVar - PIK3CA - - - - - 3q26.32 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 31750041[PMID] - - AKT serine/threonine kinase 1 - AKT1 - - RAC-alpha - AKT - PKB - PRKBA - RAC - protein kinase B - - - gene with protein product - - - - Ensembl - ENSG00000142208 - - - Genatlas - AKT1 - - - HGNC - 391 - - - IUPHAR - 1479 - - - OMIM - 164730 - - - Reactome - P31749 - - - SwissProt - P31749 - - - ClinVar - AKT1 - - - - - 14q32.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29216385[PMID]_29312603[PMID] - - telomerase reverse transcriptase - TERT - - EST2 - TCS1 - TP2 - TRT - hEST2 - - - gene with protein product - - - - Ensembl - ENSG00000164362 - - - Genatlas - TERT - - - HGNC - 11730 - - - OMIM - 187270 - - - Reactome - O14746 - - - SwissProt - O14746 - - - ClinVar - TERT - - - - - 5p15.33 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 28170043[PMID] - - BRCA1 associated deubiquitinase 1 - BAP1 - - KIAA0272 - UCHL2 - hucep-6 - ubiquitin carboxy-terminal hydrolase L2 - - - gene with protein product - - - - Reactome - Q92560 - - - Ensembl - ENSG00000163930 - - - Genatlas - BAP1 - - - HGNC - 950 - - - IUPHAR - 2332 - - - OMIM - 603089 - - - SwissProt - Q92560 - - - ClinVar - BAP1 - - - - - 3p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28170043[PMID] - - BRCA1 associated deubiquitinase 1 - BAP1 - - KIAA0272 - UCHL2 - hucep-6 - ubiquitin carboxy-terminal hydrolase L2 - - - gene with protein product - - - - Reactome - Q92560 - - - Ensembl - ENSG00000163930 - - - Genatlas - BAP1 - - - HGNC - 950 - - - IUPHAR - 2332 - - - OMIM - 603089 - - - SwissProt - Q92560 - - - ClinVar - BAP1 - - - - - 3p21.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 23377182[PMID] - - SWI/SNF related BAF chromatin remodeling complex subunit E1 - SMARCE1 - - BAF57 - - - gene with protein product - - - - ClinVar - SMARCE1 - - - Ensembl - ENSG00000073584 - - - Genatlas - SMARCE1 - - - HGNC - 11109 - - - OMIM - 603111 - - - Reactome - Q969G3 - - - SwissProt - Q969G3 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23334667[PMID]_23348505[PMID] - - TNF receptor associated factor 7 - TRAF7 - - RNF119 - DKFZp586I021 - MGC7807 - - - gene with protein product - - - - SwissProt - Q6Q0C0 - - - HGNC - 20456 - - - Ensembl - ENSG00000131653 - - - Genatlas - TRAF7 - - - OMIM - 606692 - - - ClinVar - TRAF7 - - - - - 16p13.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 23334667[PMID]_23348505[PMID] - - smoothened, frizzled class receptor - SMO - - frizzled family member 11 - FZD11 - - - gene with protein product - - - - HGNC - 11119 - - - OMIM - 601500 - - - Genatlas - SMO - - - SwissProt - Q99835 - - - Reactome - Q99835 - - - Ensembl - ENSG00000128602 - - - IUPHAR - 239 - - - ClinVar - SMO - - - - - 7q32.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569 - Familial or sporadic hemiplegic migraine - - Disease - - - Disorder - - - - 20301562[PMID] - - sodium voltage-gated channel alpha subunit 1 - SCN1A - - GEFSP2 - HBSCI - NAC1 - Nav1.1 - SMEI - - - gene with protein product - - - - ClinVar - SCN1A - - - Ensembl - ENSG00000144285 - - - Genatlas - SCN1A - - - HGNC - 10585 - - - IUPHAR - 578 - - - OMIM - 182389 - - - Reactome - P35498 - - - SwissProt - P35498 - - - - - 2q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301562[PMID] - - calcium voltage-gated channel subunit alpha1 A - CACNA1A - - APCA - Cav2.1 - EA2 - FHM - HPCA - - - gene with protein product - - - - ClinVar - CACNA1A - - - Ensembl - ENSG00000141837 - - - Genatlas - CACNA1A - - - HGNC - 1388 - - - IUPHAR - 532 - - - OMIM - 601011 - - - Reactome - O00555 - - - SwissProt - O00555 - - - - - 19p13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301562[PMID] - - ATPase Na+/K+ transporting subunit alpha 2 - ATP1A2 - - FHM2 - sodium pump subunit alpha-2 - sodium-potassium ATPase catalytic subunit alpha-2 - sodium/potassium-transporting ATPase subunit alpha-2 - - - gene with protein product - - - - ClinVar - ATP1A2 - - - IUPHAR - 834 - - - HGNC - 800 - - - OMIM - 182340 - - - Reactome - P50993 - - - SwissProt - P50993 - - - Ensembl - ENSG00000018625 - - - Genatlas - ATP1A2 - - - - - 1q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23077016[PMID]_23077024[PMID]_22845787[PMID] - - proline rich transmembrane protein 2 - PRRT2 - - interferon induced transmembrane protein domain containing 1 - dispanin subfamily B member 3 - DKFZp547J199 - DSPB3 - EKD1 - FICCA - FLJ25513 - IFITMD1 - Interferon induced transmembrane protein domain containing 1 - PKC - Paroxysmal kinesigenic dyskinesia - Episodic kinesigenic dyskinesia 1 - - - gene with protein product - - - - Ensembl - ENSG00000167371 - - - Genatlas - PRRT2 - - - HGNC - 30500 - - - OMIM - 614386 - - - SwissProt - Q7Z6L0 - - - ClinVar - PRRT2 - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240 - Léri-Weill dyschondrosteosis - - Malformation syndrome - - - Disorder - - - - 20301394[PMID] - - SHOX homeobox - SHOX - - GCFX - PHOG - SHOXY - SS - SHOX1 - pseudoautosomal homeobox-containing osteogenic gene - - - gene with protein product - - - - ClinVar - SHOX - - - OMIM - 312865 - - - OMIM - 400020 - - - SwissProt - O15266 - - - Ensembl - ENSG00000185960 - - - Genatlas - SHOX - - - HGNC - 10853 - - - - - Xp22.33 and Yp11.32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2311 - Autosomal recessive spondylocostal dysostosis - - Malformation syndrome - - - Disorder - - - - 27861764[PMID] - - T-box transcription factor 6 - TBX6 - - - - gene with protein product - - - - ClinVar - TBX6 - - - Ensembl - ENSG00000149922 - - - Genatlas - TBX6 - - - HGNC - 11605 - - - OMIM - 602427 - - - SwissProt - O95947 - - - Reactome - O95947 - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301771[PMID] - - delta like canonical Notch ligand 3 - DLL3 - - SCDO1 - - - gene with protein product - - - - Genatlas - DLL3 - - - HGNC - 2909 - - - OMIM - 602768 - - - SwissProt - Q9NYJ7 - - - Ensembl - ENSG00000090932 - - - ClinVar - DLL3 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301771[PMID] - - mesoderm posterior bHLH transcription factor 2 - MESP2 - - SCDO2 - bHLHc6 - - - gene with protein product - - - - ClinVar - MESP2 - - - Ensembl - ENSG00000188095 - - - Genatlas - MESP2 - - - HGNC - 29659 - - - OMIM - 605195 - - - SwissProt - Q0VG99 - - - - - 15q26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301771[PMID] - - LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase - LFNG - - SCDO3 - - - gene with protein product - - - - Ensembl - ENSG00000106003 - - - Genatlas - LFNG - - - HGNC - 6560 - - - OMIM - 602576 - - - Reactome - Q8NES3 - - - SwissProt - Q8NES3 - - - ClinVar - LFNG - - - - - 7p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301771[PMID] - - hes family bHLH transcription factor 7 - HES7 - - bHLH factor Hes7 - bHLHb37 - - - gene with protein product - - - - ClinVar - HES7 - - - Reactome - Q9BYE0 - - - Ensembl - ENSG00000179111 - - - Genatlas - HES7 - - - HGNC - 15977 - - - OMIM - 608059 - - - SwissProt - Q9BYE0 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25343988[PMID] - - ripply transcriptional repressor 2 - RIPPLY2 - - dJ237I15.1 - - - gene with protein product - - - - Ensembl - ENSG00000203877 - - - Genatlas - RIPPLY2 - - - HGNC - 21390 - - - OMIM - 609891 - - - SwissProt - Q5TAB7 - - - ClinVar - RIPPLY2 - - - Reactome - Q5TAB7 - - - - - 6q14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=358 - Gitelman syndrome - - Disease - - - Disorder - - - - 22169961[PMID]_22990302[PMID] - - solute carrier family 12 member 3 - SLC12A3 - - NCCT - TSC - Na-Cl symporter - sodium-chloride co-transporter - Thiazide-sensitive sodium-chloride cotransporter - NCC - - - gene with protein product - - - - Ensembl - ENSG00000070915 - - - Genatlas - SLC12A3 - - - HGNC - 10912 - - - IUPHAR - 970 - - - OMIM - 600968 - - - Reactome - P55017 - - - SwissProt - P55017 - - - ClinVar - SLC12A3 - - - - - 16q13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20931281[PMID]_19265611[PMID]_18667063[PMID] - - chloride voltage-gated channel Kb - CLCNKB - - hClC-Kb - Chloride channel protein ClC-Kb - CLCKB - ClC-K2 - ClC-Kb - - - gene with protein product - - - - IUPHAR - 701 - - - Ensembl - ENSG00000184908 - - - Genatlas - CLCNKB - - - HGNC - 2027 - - - OMIM - 602023 - - - Reactome - P51801 - - - SwissProt - P51801 - - - ClinVar - CLCNKB - - - - - 1p36.13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=242 - 46,XY complete gonadal dysgenesis - - Malformation syndrome - - - Disorder - - - - 31337883[PMID] - - DEAH-box helicase 37 - DHX37 - - KIAA1517 - MGC4322 - MGC2695 - Dhr1 - - - gene with protein product - - - - HGNC - 17210 - - - Ensembl - ENSG00000150990 - - - SwissProt - Q8IY37 - - - Reactome - Q8IY37 - - - OMIM - 617362 - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25613702[PMID]_21384108[PMID]_21314844[PMID] - - WT1 transcription factor - WT1 - - AWT1 - NPHS4 - WAGR - WIT-2 - WT-1 - - - gene with protein product - - - - ClinVar - WT1 - - - Ensembl - ENSG00000184937 - - - Genatlas - WT1 - - - HGNC - 12796 - - - OMIM - 607102 - - - SwissProt - P19544 - - - Reactome - P19544 - - - - - 11p13 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 22051515[PMID] - - SRY-box transcription factor 9 - SOX9 - - SRA1 - - - gene with protein product - - - - Ensembl - ENSG00000125398 - - - Genatlas - SOX9 - - - HGNC - 11204 - - - OMIM - 608160 - - - Reactome - P48436 - - - SwissProt - P48436 - - - ClinVar - SOX9 - - - - - 17q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301714[PMID] - - sex determining region Y - SRY - - TDF - testis-determining factor - - - gene with protein product - - - - Ensembl - ENSG00000184895 - - - Genatlas - SRY - - - HGNC - 11311 - - - OMIM - 480000 - - - Reactome - Q05066 - - - SwissProt - Q05066 - - - ClinVar - SRY - - - - - Yp11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301714[PMID] - - desert hedgehog signaling molecule - DHH - - HHG-3 - MGC35145 - - - gene with protein product - - - - Ensembl - ENSG00000139549 - - - Genatlas - DHH - - - HGNC - 2865 - - - OMIM - 605423 - - - Reactome - O43323 - - - SwissProt - O43323 - - - ClinVar - DHH - - - - - 12q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301714[PMID] - - nuclear receptor subfamily 5 group A member 1 - NR5A1 - - AD4BP - ELP - FTZ1 - SF-1 - hSF-1 - steroidogenic factor 1 - SF1 - - - gene with protein product - - - - ClinVar - NR5A1 - - - Ensembl - ENSG00000136931 - - - Genatlas - NR5A1 - - - HGNC - 7983 - - - IUPHAR - 632 - - - OMIM - 184757 - - - Reactome - Q13285 - - - SwissProt - Q13285 - - - - - 9q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30879272[PMID] - - nuclear receptor subfamily 0 group B member 1 - NR0B1 - - AHCH - DAX1 - - - gene with protein product - - - - ClinVar - NR0B1 - - - IUPHAR - 635 - - - OMIM - 300473 - - - Reactome - P51843 - - - SwissProt - P51843 - - - Ensembl - ENSG00000169297 - - - Genatlas - NR0B1 - - - HGNC - 7960 - - - - - Xp21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19361780[PMID] - - chromobox 2 - CBX2 - - M33 - MGC10561 - Pc class homolog (Drosophila) - - - gene with protein product - - - - ClinVar - CBX2 - - - Ensembl - ENSG00000173894 - - - Genatlas - CBX2 - - - HGNC - 1552 - - - OMIM - 602770 - - - Reactome - Q14781 - - - SwissProt - Q14781 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 21129722[PMID] - - mitogen-activated protein kinase kinase kinase 1 - MAP3K1 - - MAPKKK1 - MEKK - - - gene with protein product - - - - ClinVar - MAP3K1 - - - Ensembl - ENSG00000095015 - - - Genatlas - MAP3K1 - - - HGNC - 6848 - - - IUPHAR - 2069 - - - OMIM - 600982 - - - Reactome - Q13233 - - - SwissProt - Q13233 - - - - - 5q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20685758[PMID] - - doublesex and mab-3 related transcription factor 1 - DMRT1 - - CT154 - DM domain expressed in testis 1 - DMT1 - - - gene with protein product - - - - ClinVar - DMRT1 - - - Ensembl - ENSG00000137090 - - - Genatlas - DMRT1 - - - HGNC - 2934 - - - OMIM - 602424 - - - SwissProt - Q9Y5R6 - - - - - 9p24.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 2052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052 - Fraser syndrome - - Malformation syndrome - - - Disorder - - - - 23473829[PMID] - - Fraser extracellular matrix complex subunit 1 - FRAS1 - - FLJ14927 - FLJ22031 - KIAA1500 - - - gene with protein product - - - - ClinVar - FRAS1 - - - Ensembl - ENSG00000138759 - - - Genatlas - FRAS1 - - - HGNC - 19185 - - - OMIM - 607830 - - - SwissProt - Q86XX4 - - - - - 4q21.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18671281[PMID] - - FRAS1 related extracellular matrix 2 - FREM2 - - DKFZp686J0811 - - - gene with protein product - - - - HGNC - 25396 - - - OMIM - 608945 - - - SwissProt - Q5SZK8 - - - ClinVar - FREM2 - - - Ensembl - ENSG00000150893 - - - Genatlas - FREM2 - - - - - 13q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22510445[PMID] - - glutamate receptor interacting protein 1 - GRIP1 - - - - gene with protein product - - - - ClinVar - GRIP1 - - - Ensembl - ENSG00000155974 - - - Genatlas - GRIP1 - - - HGNC - 18708 - - - OMIM - 604597 - - - Reactome - Q9Y3R0 - - - SwissProt - Q9Y3R0 - - - - - 12q14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1358 - Carey-Fineman-Ziter syndrome - - Malformation syndrome - - - Disorder - - - - 35642635[PMID] - - myomixer, myoblast fusion factor - MYMX - - MINION - microprotein inducer of fusion - myomerger - - - gene with protein product - - - - Ensembl - ENSG00000262179 - - - OMIM - 619912 - - - SwissProt - A0A1B0GTQ4 - - - HGNC - 52391 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 28681861[PMID] - - myomaker, myoblast fusion factor - MYMK - - TMEM226 - transmembrane protein 226 - MYOMAKER - - - gene with protein product - - - - HGNC - 33778 - - - Ensembl - ENSG00000187616 - - - SwissProt - A6NI61 - - - OMIM - 615345 - - - - - 9q34.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111 - Barth syndrome - - Disease - - - Disorder - - - - 23843353[PMID] - - tafazzin, phospholipid-lysophospholipid transacylase - TAFAZZIN - - BTHS - Barth syndrome - G4.5 - TAZ1 - XAP-2 - transcriptional coactivator with PDZ-binding motif - - - gene with protein product - - - - Ensembl - ENSG00000102125 - - - Genatlas - TAZ - - - HGNC - 11577 - - - OMIM - 300394 - - - Reactome - Q16635 - - - SwissProt - Q16635 - - - ClinVar - TAZ - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 1308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1308 - C syndrome - - Malformation syndrome - - - Disorder - - - - 17847009[PMID]_19449408[PMID] - - CD96 molecule - CD96 - - TACTILE - T cell activation, increased late expression - T-cell surface protein tactile - - - gene with protein product - - - - Ensembl - ENSG00000153283 - - - Genatlas - CD96 - - - HGNC - 16892 - - - OMIM - 606037 - - - Reactome - P40200 - - - SwissProt - P40200 - - - ClinVar - CD96 - - - - - 3q13.13-q13.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=150 - Nasopharyngeal carcinoma - - Disease - - - Disorder - - - - 27647909[PMID] - - NFKB inhibitor alpha - NFKBIA - - IKBA - IkappaBalpha - MAD-3 - NF-kappa-B inhibitor alpha - - - gene with protein product - - - - Ensembl - ENSG00000100906 - - - Genatlas - NFKBIA - - - HGNC - 7797 - - - OMIM - 164008 - - - Reactome - P25963 - - - SwissProt - P25963 - - - ClinVar - NFKBIA - - - - - 14q13.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=133 - Chronic beryllium disease - - Disease - - - Disorder - - - - 22972925[PMID] - - major histocompatibility complex, class II, DP beta 1 - HLA-DPB1 - - - - gene with protein product - - - - Ensembl - ENSG00000223865 - - - Genatlas - HLA-DPB1 - - - HGNC - 4940 - - - OMIM - 142858 - - - Reactome - P04440 - - - SwissProt - P04440 - - - ClinVar - HLA-DPB1 - - - - - 6p21.32 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 1552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1552 - Currarino syndrome - - Malformation syndrome - - - Disorder - - - - 22820079[PMID]_23370340[PMID] - - motor neuron and pancreas homeobox 1 - MNX1 - - HB9 - HOXHB9 - SCRA1 - - - gene with protein product - - - - Ensembl - ENSG00000130675 - - - Genatlas - MNX1 - - - HGNC - 4979 - - - OMIM - 142994 - - - SwissProt - P50219 - - - ClinVar - MNX1 - - - - - 7q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 624 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624 - Familial multiple nevi flammei - - Morphological anomaly - - - Disorder - - - - 23656586[PMID] - - G protein subunit alpha q - GNAQ - - G-ALPHA-q - GAQ - - - gene with protein product - - - - IUPHAR - 2914 - - - Ensembl - ENSG00000156052 - - - Genatlas - GNAQ - - - HGNC - 4390 - - - OMIM - 600998 - - - Reactome - P50148 - - - SwissProt - P50148 - - - ClinVar - GNAQ - - - - - 9q21.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 3000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3000 - Familial peripheral male-limited precocious puberty - - Disease - - - Disorder - - - - - - luteinizing hormone/choriogonadotropin receptor - LHCGR - - LCGR - LGR2 - LHR - ULG5 - luteinizing hormone receptor - - - gene with protein product - - - - ClinVar - LHCGR - - - Ensembl - ENSG00000138039 - - - Genatlas - LHCGR - - - HGNC - 6585 - - - IUPHAR - 254 - - - OMIM - 152790 - - - Reactome - P22888 - - - SwissProt - P22888 - - - - - 2p16.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=920 - Ablepharon macrostomia syndrome - - Malformation syndrome - - - Disorder - - - - 26119818[PMID] - - twist family bHLH transcription factor 2 - TWIST2 - - DERMO1 - Dermo-1 - bHLHa39 - - - gene with protein product - - - - Ensembl - ENSG00000233608 - - - ClinVar - TWIST2 - - - Reactome - Q8WVJ9 - - - Genatlas - TWIST2 - - - HGNC - 20670 - - - OMIM - 607556 - - - SwissProt - Q8WVJ9 - - - - - 2q37.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 7 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=7 - 3C syndrome - - Malformation syndrome - - - Disorder - - - - 31712251[PMID] - - VPS35 endosomal protein sorting factor like - VPS35L - - MGC16824 - - - gene with protein product - - - - HGNC - 24641 - - - SwissProt - Q7Z3J2 - - - Ensembl - ENSG00000103544 - - - OMIM - 618981 - - - - - 16p12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33894126[PMID] - - dihydropyrimidinase like 5 - DPYSL5 - - CRMP5 - collapsin response mediator protein 5 - CV2 - Ulip6 - CRMP-5 - CRAM - - - gene with protein product - - - - HGNC - 20637 - - - Ensembl - ENSG00000157851 - - - OMIM - 608383 - - - SwissProt - Q9BPU6 - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24065355[PMID] - - WASH complex subunit 5 - WASHC5 - - strumpellin - - - gene with protein product - - - - Ensembl - ENSG00000164961 - - - Genatlas - KIAA0196 - - - HGNC - 28984 - - - OMIM - 610657 - - - SwissProt - Q12768 - - - ClinVar - KIAA0196 - - - - - 8q24.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24916641[PMID] - - CCC complex scaffolding subunit CCDC22 - CCDC22 - - JM1 - - - gene with protein product - - - - Reactome - O60826 - - - Ensembl - ENSG00000101997 - - - Genatlas - CCDC22 - - - HGNC - 28909 - - - OMIM - 300859 - - - SwissProt - O60826 - - - ClinVar - CCDC22 - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 931 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=931 - Isolated acheiropodia - - Morphological anomaly - - - Disorder - - - - 11090342[PMID] - - limb development membrane protein 1 - LMBR1 - - ACHP - FLJ11665 - ZRS - - - gene with protein product - - - - ClinVar - LMBR1 - - - Ensembl - ENSG00000105983 - - - Genatlas - LMBR1 - - - HGNC - 13243 - - - OMIM - 605522 - - - SwissProt - Q8WVP7 - - - - - 7q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=869 - Triple A syndrome - - Disease - - - Disorder - - - - 27707803[PMID] - - trafficking protein particle complex subunit 11 - TRAPPC11 - - FLJ12716 - foie gras homolog (zebrafish) - foigr - gry - gryzun homolog (Drosophila) - - - gene with protein product - - - - ClinVar - TRAPPC11 - - - Ensembl - ENSG00000168538 - - - Genatlas - TRAPPC11 - - - HGNC - 25751 - - - OMIM - 614138 - - - SwissProt - Q7Z392 - - - Reactome - Q7Z392 - - - - - 4q35.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11159947[PMID]_20674935[PMID]_11815731[PMID] - - aladin WD repeat nucleoporin - AAAS - - Allgrove, triple-A - adracalin - aladin - - - gene with protein product - - - - Ensembl - ENSG00000094914 - - - Genatlas - AAAS - - - HGNC - 13666 - - - OMIM - 605378 - - - Reactome - Q9NRG9 - - - SwissProt - Q9NRG9 - - - ClinVar - AAAS - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24035193[PMID] - - GDP-mannose pyrophosphorylase A - GMPPA - - - - gene with protein product - - - - ClinVar - GMPPA - - - Ensembl - ENSG00000144591 - - - Genatlas - GMPPA - - - HGNC - 22923 - - - OMIM - 615495 - - - Reactome - Q96IJ6 - - - SwissProt - Q96IJ6 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2297 - Insulin-resistance syndrome type A - - Disease - - - Disorder - - - - 8288049[PMID]_20339196[PMID] - - insulin receptor - INSR - - CD220 - - - gene with protein product - - - - ClinVar - INSR - - - OMIM - 147670 - - - Reactome - P06213 - - - SwissProt - P06213 - - - Ensembl - ENSG00000171105 - - - Genatlas - INSR - - - HGNC - 6091 - - - IUPHAR - 1800 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=921 - Abruzzo-Erickson syndrome - - Malformation syndrome - - - Disorder - - - - 22784330[PMID] - - T-box transcription factor 22 - TBX22 - - - - gene with protein product - - - - Ensembl - ENSG00000122145 - - - Genatlas - TBX22 - - - HGNC - 11600 - - - OMIM - 300307 - - - SwissProt - Q9Y458 - - - ClinVar - TBX22 - - - - - Xq21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 31 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31 - Oxoglutaric aciduria - - Disease - - - Disorder - - - - 36520152[PMID] - - oxoglutarate dehydrogenase - OGDH - - E1k - OGDH2 - KGD1 - OGDC-E1 - - - gene with protein product - - - - Ensembl - ENSG00000105953 - - - Genatlas - OGDH - - - HGNC - 8124 - - - OMIM - 613022 - - - Reactome - Q02218 - - - SwissProt - Q02218 - - - ClinVar - OGDH - - - - - 7p13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 37 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37 - Acrodermatitis enteropathica - - Disease - - - Disorder - - - - 22166942[PMID]_22082465[PMID]_12787121[PMID] - - solute carrier family 39 member 4 - SLC39A4 - - AWMS2 - ZIP4 - ZIP-4 - Zinc transporter ZIP4 - ZRT/IRT-like protein 4 - zinc transporter 4 - - - gene with protein product - - - - Ensembl - ENSG00000147804 - - - Genatlas - SLC39A4 - - - HGNC - 17129 - - - OMIM - 607059 - - - Reactome - Q6P5W5 - - - SwissProt - Q6P5W5 - - - IUPHAR - 1183 - - - ClinVar - SLC39A4 - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=950 - Acrodysostosis - - Malformation syndrome - - - Disorder - - - - 22464250[PMID]_22464252[PMID] - - phosphodiesterase 4D - PDE4D - - cAMP-specific 3',5'-cyclic phosphodiesterase 4D - phosphodiesterase E3 dunce homolog (Drosophila) - - - gene with protein product - - - - IUPHAR - 1303 - - - Ensembl - ENSG00000113448 - - - Genatlas - PDE4D - - - HGNC - 8783 - - - OMIM - 600129 - - - Reactome - Q08499 - - - SwissProt - Q08499 - - - ClinVar - PDE4D - - - - - 5q11.2-q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21651393[PMID]_22464250[PMID]_22464252[PMID] - - protein kinase cAMP-dependent type I regulatory subunit alpha - PRKAR1A - - CNC1 - Carney complex type 1 - - - gene with protein product - - - - Ensembl - ENSG00000108946 - - - Genatlas - PRKAR1A - - - HGNC - 9388 - - - IUPHAR - 1472 - - - OMIM - 188830 - - - Reactome - P10644 - - - SwissProt - P10644 - - - ClinVar - PRKAR1A - - - - - 17q24.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=955 - Hajdu-Cheney syndrome - - Malformation syndrome - - - Disorder - - - - 21378985[PMID] - - notch receptor 2 - NOTCH2 - - - - gene with protein product - - - - Ensembl - ENSG00000134250 - - - Genatlas - NOTCH2 - - - HGNC - 7882 - - - OMIM - 600275 - - - Reactome - Q04721 - - - SwissProt - Q04721 - - - ClinVar - NOTCH2 - - - IUPHAR - 2859 - - - - - 1p12 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=952 - Acrofacial dysostosis, Weyers type - - Malformation syndrome - - - Disorder - - - - 10700184[PMID] - - EvC ciliary complex subunit 1 - EVC - - DWF-1 - EVC1 - - - gene with protein product - - - - ClinVar - EVC - - - Ensembl - ENSG00000072840 - - - Genatlas - EVC - - - HGNC - 3497 - - - OMIM - 604831 - - - Reactome - P57679 - - - SwissProt - P57679 - - - - - 4p16.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23220543[PMID]_22791528[PMID]_16404586[PMID] - - EvC ciliary complex subunit 2 - EVC2 - - LBN - limbin - - - gene with protein product - - - - Ensembl - ENSG00000173040 - - - Genatlas - EVC2 - - - HGNC - 19747 - - - OMIM - 607261 - - - Reactome - Q86UK5 - - - SwissProt - Q86UK5 - - - ClinVar - EVC2 - - - - - 4p16.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 38173341[PMID] - - catenin beta 1 - CTNNB1 - - armadillo - beta-catenin - - - gene with protein product - - - - ClinVar - CTNNB1 - - - Ensembl - ENSG00000168036 - - - Genatlas - CTNNB1 - - - HGNC - 2514 - - - OMIM - 116806 - - - Reactome - P35222 - - - SwissProt - P35222 - - - - - 3p22.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 1713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1713 - 17p11.2 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - 20188345[PMID] - - retinoic acid induced 1 - RAI1 - - DKFZP434A139 - KIAA1820 - MGC12824 - SMS - - - gene with protein product - - - - ClinVar - RAI1 - - - Ensembl - ENSG00000108557 - - - Genatlas - RAI1 - - - HGNC - 9834 - - - OMIM - 607642 - - - Reactome - Q7Z5J4 - - - SwissProt - Q7Z5J4 - - - - - 17p11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 1762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1762 - Proximal Xq28 duplication syndrome - - Malformation syndrome - - - Disorder - - - - 17088400[PMID] - - methyl-CpG binding protein 2 - MECP2 - - - - gene with protein product - - - - HGNC - 6990 - - - OMIM - 300005 - - - SwissProt - P51608 - - - Ensembl - ENSG00000169057 - - - Genatlas - MECP2 - - - ClinVar - MECP2 - - - Reactome - P51608 - - - - - Xq28 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 1878 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1878 - TRIM32-related limb-girdle muscular dystrophy R8 - - Disease - - - Disorder - - - - 20301582[PMID] - - tripartite motif containing 32 - TRIM32 - - BBS11 - HT2A - TATIP - - - gene with protein product - - - - Ensembl - ENSG00000119401 - - - Genatlas - TRIM32 - - - HGNC - 16380 - - - OMIM - 602290 - - - Reactome - Q13049 - - - SwissProt - Q13049 - - - ClinVar - TRIM32 - - - - - 9q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1946 - Amelocerebrohypohidrotic syndrome - - Malformation syndrome - - - Disorder - - - - 27600704[PMID] - - solute carrier family 13 member 5 - SLC13A5 - - NACT - INDY - mammalian INDY homolog (Drosophila) - Na(+)/citrate cotransporter - mINDY - - - gene with protein product - - - - SwissProt - Q86YT5 - - - Ensembl - ENSG00000141485 - - - Genatlas - SLC13A5 - - - HGNC - 23089 - - - OMIM - 608305 - - - Reactome - Q86YT5 - - - ClinVar - SLC13A5 - - - IUPHAR - 981 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22424600[PMID] - - rogdi atypical leucine zipper - ROGDI - - FLJ22386 - RAV2 - ROGD1 - - - gene with protein product - - - - Ensembl - ENSG00000067836 - - - Genatlas - ROGDI - - - HGNC - 29478 - - - OMIM - 614574 - - - SwissProt - Q9GZN7 - - - ClinVar - ROGDI - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2604 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2604 - Familial visceral myopathy - - Disease - - - Disorder - - - - 22960657[PMID] - - actin gamma 2, smooth muscle - ACTG2 - - ACTSG - - - gene with protein product - - - - Ensembl - ENSG00000163017 - - - Genatlas - ACTG2 - - - HGNC - 145 - - - OMIM - 102545 - - - Reactome - P63267 - - - SwissProt - P63267 - - - ClinVar - ACTG2 - - - - - 2p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 156 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156 - Carnitine palmitoyl transferase 1A deficiency - - Disease - - - Disorder - - - - 20301700[PMID] - - carnitine palmitoyltransferase 1A - CPT1A - - CPT1-L - L-CPT1 - - - gene with protein product - - - - IUPHAR - 3249 - - - Ensembl - ENSG00000110090 - - - Genatlas - CPT1A - - - HGNC - 2328 - - - OMIM - 600528 - - - Reactome - P50416 - - - SwissProt - P50416 - - - ClinVar - CPT1A - - - - - 11q13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2598 - Mitochondrial myopathy and sideroblastic anemia - - Disease - - - Disorder - - - - 21686963[PMID] - - pseudouridine synthase 1 - PUS1 - - MLASA1 - mitochondrial myopathy and sideroblastic anemia 1 - tRNA pseudouridine(38-40) synthase - - - gene with protein product - - - - ClinVar - PUS1 - - - Reactome - Q9Y606 - - - Ensembl - ENSG00000177192 - - - Genatlas - PUS1 - - - HGNC - 15508 - - - OMIM - 608109 - - - SwissProt - Q9Y606 - - - - - 12q24.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20598274[PMID]_22504945[PMID]_24344687[PMID]_24430573[PMID] - - tyrosyl-tRNA synthetase 2 - YARS2 - - CGI-04 - FLJ13995 - mt-TyrRS - tyrosine tRNA ligase 2, mitochondrial - - - gene with protein product - - - - ClinVar - YARS2 - - - Ensembl - ENSG00000139131 - - - Genatlas - YARS2 - - - HGNC - 24249 - - - OMIM - 610957 - - - Reactome - Q9Y2Z4 - - - SwissProt - Q9Y2Z4 - - - - - 12p11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1072 - Ankyloblepharon filiforme adnatum-cleft palate syndrome - - Clinical subtype - - - Subtype of disorder - - - - 32953416[PMID] - - tumor protein p63 - TP63 - - NBP - OFC8 - SHFM4 - p51 - p53CP - p63 - p73H - p73L - p40 - EEC3 - KET - - - gene with protein product - - - - Ensembl - ENSG00000073282 - - - Genatlas - TP63 - - - HGNC - 15979 - - - OMIM - 603273 - - - Reactome - Q9H3D4 - - - SwissProt - Q9H3D4 - - - ClinVar - TP63 - - - - - 3q28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1053 - Vein of Galen aneurysmal malformation - - Morphological anomaly - - - Disorder - - - - 29444212[PMID] - - EPH receptor B4 - EPHB4 - - Tyro11 - - - gene with protein product - - - - SwissProt - P54760 - - - ClinVar - EPHB4 - - - Ensembl - ENSG00000196411 - - - IUPHAR - 1833 - - - OMIM - 600011 - - - HGNC - 3395 - - - Genatlas - EPHB4 - - - - - 7q22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 1052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1052 - Mosaic variegated aneuploidy syndrome - - Malformation syndrome - - - Disorder - - - - 28553959[PMID] - - thyroid hormone receptor interactor 13 - TRIP13 - - 16E1BP - thyroid receptor interacting protein 13 - - - gene with protein product - - - - ClinVar - TRIP13 - - - HGNC - 12307 - - - Ensembl - ENSG00000071539 - - - SwissProt - Q15645 - - - OMIM - 604507 - - - Genatlas - TRIP13 - - - Reactome - Q15645 - - - - - 5p15.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15475955[PMID] - - BUB1 mitotic checkpoint serine/threonine kinase B - BUB1B - - BUBR1 - Bub1A - MAD3L - SSK1 - - - gene with protein product - - - - Ensembl - ENSG00000156970 - - - Genatlas - BUB1B - - - HGNC - 1149 - - - IUPHAR - 1950 - - - OMIM - 602860 - - - Reactome - O60566 - - - SwissProt - O60566 - - - ClinVar - BUB1B - - - - - 15q15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21552266[PMID]_24259107[PMID] - - centrosomal protein 57 - CEP57 - - KIAA0092 - TSP57 - Translokin - - - gene with protein product - - - - ClinVar - CEP57 - - - Ensembl - ENSG00000166037 - - - Genatlas - CEP57 - - - HGNC - 30794 - - - OMIM - 607951 - - - Reactome - Q86XR8 - - - SwissProt - Q86XR8 - - - - - 11q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23747338[PMID] - - BUB1 mitotic checkpoint serine/threonine kinase - BUB1 - - BUB1A - hBUB1 - - - gene with protein product - - - - Ensembl - ENSG00000169679 - - - Genatlas - BUB1 - - - HGNC - 1148 - - - IUPHAR - 1949 - - - OMIM - 602452 - - - Reactome - O43683 - - - SwissProt - O43683 - - - ClinVar - BUB1 - - - - - 2q13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23747338[PMID] - - BUB3 mitotic checkpoint protein - BUB3 - - BUB3L - - - gene with protein product - - - - SwissProt - O43684 - - - Ensembl - ENSG00000154473 - - - Genatlas - BUB3 - - - HGNC - 1151 - - - OMIM - 603719 - - - Reactome - O43684 - - - ClinVar - BUB3 - - - - - 10q26.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1040 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1040 - Metaphyseal anadysplasia - - Disease - - - Disorder - - - - 19615667[PMID]_24781753[PMID] - - matrix metallopeptidase 13 - MMP13 - - CLG3 - collagenase 3 - - - gene with protein product - - - - Ensembl - ENSG00000137745 - - - Genatlas - MMP13 - - - HGNC - 7159 - - - IUPHAR - 1637 - - - OMIM - 600108 - - - Reactome - P45452 - - - SwissProt - P45452 - - - ClinVar - MMP13 - - - - - 11q22.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 19615667[PMID]_24781753[PMID] - - matrix metallopeptidase 13 - MMP13 - - CLG3 - collagenase 3 - - - gene with protein product - - - - Ensembl - ENSG00000137745 - - - Genatlas - MMP13 - - - HGNC - 7159 - - - IUPHAR - 1637 - - - OMIM - 600108 - - - Reactome - P45452 - - - SwissProt - P45452 - - - ClinVar - MMP13 - - - - - 11q22.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 19615667[PMID] - - matrix metallopeptidase 9 - MMP9 - - - - gene with protein product - - - - Ensembl - ENSG00000100985 - - - Genatlas - MMP9 - - - HGNC - 7176 - - - IUPHAR - 1633 - - - OMIM - 120361 - - - Reactome - P14780 - - - SwissProt - P14780 - - - ClinVar - MMP9 - - - - - 20q13.12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 1106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1106 - Microphthalmia with limb anomalies - - Malformation syndrome - - - Disorder - - - - - - SPARC related modular calcium binding 1 - SMOC1 - - - - gene with protein product - - - - HGNC - 20318 - - - OMIM - 608488 - - - SwissProt - Q9H4F8 - - - Reactome - Q9H4F8 - - - Ensembl - ENSG00000198732 - - - Genatlas - SMOC1 - - - ClinVar - SMOC1 - - - - - 14q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 990 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=990 - Agnathia-holoprosencephaly-situs inversus syndrome - - Malformation syndrome - - - Disorder - - - - 22577225[PMID] - - orthodenticle homeobox 2 - OTX2 - - - - gene with protein product - - - - SwissProt - P32243 - - - Ensembl - ENSG00000165588 - - - Genatlas - OTX2 - - - HGNC - 8522 - - - OMIM - 600037 - - - ClinVar - OTX2 - - - - - 14q22.3 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 21294718[PMID] - - paired related homeobox 1 - PRRX1 - - PHOX1 - - - gene with protein product - - - - ClinVar - PRRX1 - - - Ensembl - ENSG00000116132 - - - Genatlas - PRRX1 - - - HGNC - 9142 - - - OMIM - 167420 - - - SwissProt - P54821 - - - - - 1q24.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=994 - Fetal akinesia deformation sequence - - Malformation syndrome - - - Disorder - - - - 31059209[PMID] - - solute carrier family 18 member A3 - SLC18A3 - - VACHT - - - gene with protein product - - - - Genatlas - SLC18A3 - - - OMIM - 600336 - - - SwissProt - Q16572 - - - Ensembl - ENSG00000187714 - - - Reactome - Q16572 - - - ClinVar - SLC18A3 - - - IUPHAR - 1013 - - - HGNC - 10936 - - - - - 10q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26733463[PMID] - - myogenic differentiation 1 - MYOD1 - - bHLHc1 - myoblast determination protein 1 - MYOD - PUM - - - gene with protein product - - - - HGNC - 7611 - - - OMIM - 159970 - - - Genatlas - MYOD1 - - - SwissProt - P15172 - - - Reactome - P15172 - - - Ensembl - ENSG00000129152 - - - ClinVar - MYOD1 - - - - - 11p15.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 18179903[PMID] - - receptor associated protein of the synapse - RAPSN - - CMS1D - CMS1E - RNF205 - rapsyn - - - gene with protein product - - - - ClinVar - RAPSN - - - HGNC - 9863 - - - OMIM - 601592 - - - SwissProt - Q13702 - - - Ensembl - ENSG00000165917 - - - Genatlas - RAPSN - - - - - 11p11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 19261599[PMID] - - docking protein 7 - DOK7 - - Dok-7 - FLJ33718 - FLJ39137 - - - gene with protein product - - - - ClinVar - DOK7 - - - Reactome - Q18PE1 - - - Ensembl - ENSG00000175920 - - - Genatlas - DOK7 - - - HGNC - 26594 - - - OMIM - 610285 - - - SwissProt - Q18PE1 - - - - - 4p16.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25612909[PMID]_25537362[PMID] - - muscle associated receptor tyrosine kinase - MUSK - - - - gene with protein product - - - - Ensembl - ENSG00000030304 - - - Genatlas - MUSK - - - HGNC - 7525 - - - IUPHAR - 1847 - - - OMIM - 601296 - - - Reactome - O15146 - - - SwissProt - O15146 - - - ClinVar - MUSK - - - - - 9q31.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 30543681[PMID] - - nucleoporin 88 - NUP88 - - MGC8530 - - - gene with protein product - - - - HGNC - 8067 - - - Ensembl - ENSG00000108559 - - - SwissProt - Q99567 - - - Reactome - Q99567 - - - OMIM - 602552 - - - - - 17p13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 32812332[PMID] - - gliomedin - GLDN - - CLOM - colmedin - CRG-L2 - UNC-122 - - - gene with protein product - - - - OMIM - 608603 - - - SwissProt - Q6ZMI3 - - - HGNC - 29514 - - - Ensembl - ENSG00000186417 - - - - - 15q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34740919[PMID] - - kinesin family member 21A - KIF21A - - FLJ20052 - - - gene with protein product - - - - Reactome - Q7Z4S6 - - - ClinVar - KIF21A - - - Ensembl - ENSG00000139116 - - - Genatlas - KIF21A - - - HGNC - 19349 - - - OMIM - 608283 - - - SwissProt - Q7Z4S6 - - - - - 12q12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 26365340[PMID] - - MAGE family member L2 - MAGEL2 - - nM15 - - - gene with protein product - - - - Reactome - Q9UJ55 - - - ClinVar - MAGEL2 - - - Ensembl - ENSG00000254585 - - - Genatlas - MAGEL2 - - - HGNC - 6814 - - - OMIM - 605283 - - - SwissProt - Q9UJ55 - - - - - 15q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35686685[PMID] - - tubulin alpha 1a - TUBA1A - - B-ALPHA-1 - FLJ25113 - TUBA3 - Tubulin, alpha, brain-specific - tubulin, alpha, brain-specific - - - gene with protein product - - - - ClinVar - TUBA1A - - - Ensembl - ENSG00000167552 - - - Genatlas - TUBA1A - - - HGNC - 20766 - - - IUPHAR - 2638 - - - OMIM - 602529 - - - Reactome - Q71U36 - - - SwissProt - Q71U36 - - - - - 12q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 51 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51 - Aicardi-Goutières syndrome - - Disease - - - Disorder - - - - 33230297[PMID] - - LSM11, U7 small nuclear RNA associated - LSM11 - - FLJ38273 - - - gene with protein product - - - - HGNC - 30860 - - - Ensembl - ENSG00000155858 - - - OMIM - 617910 - - - SwissProt - P83369 - - - - - 5q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33230297[PMID] - - RNA, U7 small nuclear 1 - RNU7-1 - - RNA, small nuclear U7.1 - U7.1 - - - Non-coding RNA - - - - Ensembl - ENSG00000238923 - - - OMIM - 617876 - - - SwissProt - - - - HGNC - 34033 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301648[PMID]_20842748[PMID]_19525956[PMID] - - SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 - SAMHD1 - - AGS5 - Aicardi-Goutieres syndrome 5 - HD domain containing 1 - HDDC1 - MOP-5 - Mg11 - SBBI88 - monocyte protein 5 - - - gene with protein product - - - - OMIM - 606754 - - - Reactome - Q9Y3Z3 - - - SwissProt - Q9Y3Z3 - - - Ensembl - ENSG00000101347 - - - Genatlas - SAMHD1 - - - HGNC - 15925 - - - ClinVar - SAMHD1 - - - - - 20q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301648[PMID] - - ribonuclease H2 subunit A - RNASEH2A - - AGS4 - RNASEHI - RNHIA - RNHL - - - gene with protein product - - - - ClinVar - RNASEH2A - - - Ensembl - ENSG00000104889 - - - Genatlas - RNASEH2A - - - HGNC - 18518 - - - OMIM - 606034 - - - SwissProt - O75792 - - - - - 19p13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301648[PMID] - - ribonuclease H2 subunit B - RNASEH2B - - FLJ11712 - - - gene with protein product - - - - ClinVar - RNASEH2B - - - Ensembl - ENSG00000136104 - - - Genatlas - RNASEH2B - - - HGNC - 25671 - - - OMIM - 610326 - - - SwissProt - Q5TBB1 - - - - - 13q14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301648[PMID] - - ribonuclease H2 subunit C - RNASEH2C - - AGS3 - AYP1 - Aicardi-Goutieres syndrome 3 - - - gene with protein product - - - - ClinVar - RNASEH2C - - - Ensembl - ENSG00000172922 - - - Genatlas - RNASEH2C - - - HGNC - 24116 - - - OMIM - 610330 - - - SwissProt - Q8TDP1 - - - - - 11q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301648[PMID]_23001123[PMID] - - adenosine deaminase RNA specific - ADAR - - ADAR1 - DRADA - Double-stranded RNA-specific adenosine deaminase - - - gene with protein product - - - - Ensembl - ENSG00000160710 - - - Genatlas - ADAR - - - HGNC - 225 - - - OMIM - 146920 - - - Reactome - P55265 - - - SwissProt - P55265 - - - ClinVar - ADAR - - - - - 1q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301648[PMID]_16845398[PMID]_17357087[PMID]_20799324[PMID] - - three prime repair exonuclease 1 - TREX1 - - DRN3 - - - gene with protein product - - - - Genatlas - TREX1 - - - HGNC - 12269 - - - OMIM - 606609 - - - Reactome - Q9NSU2 - - - SwissProt - Q9NSU2 - - - Ensembl - ENSG00000213689 - - - ClinVar - TREX1 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24686847[PMID]_24995871[PMID] - - interferon induced with helicase C domain 1 - IFIH1 - - Hlcd - IDDM19 - MDA-5 - MDA5 - helicard - melanoma differentiation-associated gene 5 - - - gene with protein product - - - - IUPHAR - 2921 - - - Ensembl - ENSG00000115267 - - - Genatlas - IFIH1 - - - HGNC - 18873 - - - OMIM - 606951 - - - Reactome - Q9BYX4 - - - SwissProt - Q9BYX4 - - - ClinVar - IFIH1 - - - - - 2q24.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=978 - ADULT syndrome - - Malformation syndrome - - - Disorder - - - - 17041931[PMID] - - tumor protein p63 - TP63 - - NBP - OFC8 - SHFM4 - p51 - p53CP - p63 - p73H - p73L - p40 - EEC3 - KET - - - gene with protein product - - - - Ensembl - ENSG00000073282 - - - Genatlas - TP63 - - - HGNC - 15979 - - - OMIM - 603273 - - - Reactome - Q9H3D4 - - - SwissProt - Q9H3D4 - - - ClinVar - TP63 - - - - - 3q28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=988 - Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome - - Malformation syndrome - - - Disorder - - - - 9600232[PMID] - - sonic hedgehog signaling molecule - SHH - - HHG1 - MCOPCB5 - SMMCI - TPT - TPTPS - - - gene with protein product - - - - ClinVar - SHH - - - Ensembl - ENSG00000164690 - - - Genatlas - SHH - - - HGNC - 10848 - - - OMIM - 600725 - - - Reactome - Q15465 - - - SwissProt - Q15465 - - - - - 7q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19847792[PMID] - - limb development membrane protein 1 - LMBR1 - - ACHP - FLJ11665 - ZRS - - - gene with protein product - - - - ClinVar - LMBR1 - - - Ensembl - ENSG00000105983 - - - Genatlas - LMBR1 - - - HGNC - 13243 - - - OMIM - 605522 - - - SwissProt - Q8WVP7 - - - - - 7q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=983 - Testicular regression syndrome - - Morphological anomaly - - - Disorder - - - - 31287541[PMID] - - DEAH-box helicase 37 - DHX37 - - KIAA1517 - MGC4322 - MGC2695 - Dhr1 - - - gene with protein product - - - - HGNC - 17210 - - - Ensembl - ENSG00000150990 - - - SwissProt - Q8IY37 - - - Reactome - Q8IY37 - - - OMIM - 617362 - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=970 - Hereditary sensory and autonomic neuropathy type 2 - - Disease - - - Disorder - - - - 23596073[PMID] - - sodium voltage-gated channel alpha subunit 9 - SCN9A - - ETHA - NE-NA - NENA - Nav1.7 - PN1 - - - gene with protein product - - - - ClinVar - SCN9A - - - Ensembl - ENSG00000169432 - - - Genatlas - SCN9A - - - HGNC - 10597 - - - IUPHAR - 584 - - - OMIM - 603415 - - - Reactome - Q15858 - - - SwissProt - Q15858 - - - - - 2q24.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 21089229[PMID] - - WNK lysine deficient protein kinase 1 - WNK1 - - HSAN2 - PPP1R167 - protein phosphatase 1, regulatory subunit 167 - - - gene with protein product - - - - ClinVar - WNK1 - - - Ensembl - ENSG00000060237 - - - Genatlas - WNK1 - - - HGNC - 14540 - - - IUPHAR - 2280 - - - OMIM - 605232 - - - Reactome - Q9H4A3 - - - SwissProt - Q9H4A3 - - - - - 12p13.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 21089229[PMID] - - reticulophagy regulator 1 - RETREG1 - - FLJ20152 - JK1 - - - gene with protein product - - - - Ensembl - ENSG00000154153 - - - Genatlas - FAM134B - - - HGNC - 25964 - - - OMIM - 613114 - - - SwissProt - Q9H6L5 - - - ClinVar - FAM134B - - - - - 5p15.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 21089229[PMID] - - kinesin family member 1A - KIF1A - - UNC104 - - - gene with protein product - - - - Reactome - Q12756 - - - Ensembl - ENSG00000130294 - - - Genatlas - KIF1A - - - HGNC - 888 - - - OMIM - 601255 - - - SwissProt - Q12756 - - - ClinVar - KIF1A - - - - - 2q37.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 40 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=40 - Acromesomelic dysplasia, Maroteaux type - - Malformation syndrome - - - Disorder - - - - 22691581[PMID]_15146390[PMID] - - natriuretic peptide receptor 2 - NPR2 - - ANPb - GUCY2B - guanylate cyclase 2B - guanylyl cyclase B - GC-B - - - gene with protein product - - - - ClinVar - NPR2 - - - IUPHAR - 1748 - - - Ensembl - ENSG00000159899 - - - Genatlas - NPR2 - - - HGNC - 7944 - - - OMIM - 108961 - - - Reactome - P20594 - - - SwissProt - P20594 - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=969 - Acromicric dysplasia - - Malformation syndrome - - - Disorder - - - - 21683322[PMID] - - fibrillin 1 - FBN1 - - MASS - Marfan syndrome - OCTD - SGS - asprosin - - - gene with protein product - - - - ClinVar - FBN1 - - - Ensembl - ENSG00000166147 - - - Genatlas - FBN1 - - - HGNC - 3603 - - - OMIM - 134797 - - - Reactome - P35555 - - - SwissProt - P35555 - - - - - 15q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27068007[PMID] - - latent transforming growth factor beta binding protein 3 - LTBP3 - - - - gene with protein product - - - - ClinVar - LTBP3 - - - Ensembl - ENSG00000168056 - - - Genatlas - LTBP3 - - - HGNC - 6716 - - - OMIM - 602090 - - - Reactome - Q9NS15 - - - SwissProt - Q9NS15 - - - - - 11q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974 - Adams-Oliver syndrome - - Malformation syndrome - - - Disorder - - - - 25132448[PMID] - - notch receptor 1 - NOTCH1 - - - - gene with protein product - - - - Ensembl - ENSG00000148400 - - - Genatlas - NOTCH1 - - - HGNC - 7881 - - - OMIM - 190198 - - - Reactome - P46531 - - - SwissProt - P46531 - - - IUPHAR - 2861 - - - ClinVar - NOTCH1 - - - - - 9q34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21565291[PMID] - - Rho GTPase activating protein 31 - ARHGAP31 - - CDGAP - - - gene with protein product - - - - Ensembl - ENSG00000031081 - - - Genatlas - ARHGAP31 - - - HGNC - 29216 - - - OMIM - 610911 - - - Reactome - Q2M1Z3 - - - SwissProt - Q2M1Z3 - - - ClinVar - ARHGAP31 - - - - - 3q13.32-q13.33 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 21820096[PMID] - - dedicator of cytokinesis 6 - DOCK6 - - KIAA1395 - ZIR1 - - - gene with protein product - - - - Ensembl - ENSG00000130158 - - - Genatlas - DOCK6 - - - HGNC - 19189 - - - OMIM - 614194 - - - Reactome - Q96HP0 - - - SwissProt - Q96HP0 - - - ClinVar - DOCK6 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22883147[PMID] - - recombination signal binding protein for immunoglobulin kappa J region - RBPJ - - CBF1 - IGKJRB - KBF2 - RBP-J - RBPJK - SUH - CSL family DNA binding factor 1 - suppressor of hairless homolog (Drosophila) - - - gene with protein product - - - - Reactome - Q06330 - - - SwissProt - Q06330 - - - Ensembl - ENSG00000168214 - - - Genatlas - RBPJ - - - HGNC - 5724 - - - OMIM - 147183 - - - ClinVar - RBPJ - - - - - 4p15.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23522784[PMID] - - EGF domain specific O-linked N-acetylglucosamine transferase - EOGT - - AER61 - AER61 glycosyltransferase - FLJ33770 - - - gene with protein product - - - - ClinVar - EOGT - - - Ensembl - ENSG00000163378 - - - Genatlas - EOGT - - - HGNC - 28526 - - - OMIM - 614789 - - - SwissProt - Q5NDL2 - - - - - 3p14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26299364[PMID] - - delta like canonical Notch ligand 4 - DLL4 - - - - gene with protein product - - - - Ensembl - ENSG00000128917 - - - Genatlas - DLL4 - - - HGNC - 2910 - - - OMIM - 605185 - - - Reactome - Q9NR61 - - - SwissProt - Q9NR61 - - - ClinVar - DLL4 - - - - - 15q15.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=972 - Hereditary continuous muscle fiber activity - - Disease - - - Disorder - - - - 17136396[PMID] - - potassium voltage-gated channel subfamily A member 1 - KCNA1 - - HUK1 - Kv1.1 - MBK1 - RBK1 - - - gene with protein product - - - - Ensembl - ENSG00000111262 - - - Genatlas - KCNA1 - - - HGNC - 6218 - - - IUPHAR - 538 - - - OMIM - 176260 - - - Reactome - Q09470 - - - SwissProt - Q09470 - - - ClinVar - KCNA1 - - - - - 12p13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=959 - Acro-renal-ocular syndrome - - Malformation syndrome - - - Disorder - - - - 16086360[PMID]_20301547[PMID] - - spalt like transcription factor 4 - SALL4 - - ZNF797 - dJ1112F19.1 - - - gene with protein product - - - - ClinVar - SALL4 - - - Ensembl - ENSG00000101115 - - - Genatlas - SALL4 - - - HGNC - 15924 - - - OMIM - 607343 - - - Reactome - Q9UJQ4 - - - SwissProt - Q9UJQ4 - - - - - 20q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=968 - Acromesomelic dysplasia, Hunter-Thompson type - - Malformation syndrome - - - Disorder - - - - 8589725[PMID] - - growth differentiation factor 5 - GDF5 - - BMP14 - CDMP1 - cartilage-derived morphogenetic protein-1 - - - gene with protein product - - - - ClinVar - GDF5 - - - OMIM - 601146 - - - Reactome - P43026 - - - SwissProt - P43026 - - - Ensembl - ENSG00000125965 - - - Genatlas - GDF5 - - - HGNC - 4220 - - - - - 20q11.22 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 1031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1031 - Enamel-renal syndrome - - Malformation syndrome - - - Disorder - - - - 23434854[PMID] - - FAM20A golgi associated secretory pathway pseudokinase - FAM20A - - DKFZp434F2322 - - - gene with protein product - - - - Ensembl - ENSG00000108950 - - - Genatlas - FAM20A - - - HGNC - 23015 - - - OMIM - 611062 - - - SwissProt - Q96MK3 - - - Reactome - Q96MK3 - - - ClinVar - FAM20A - - - - - 17q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 64 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64 - Alström syndrome - - Disease - - - Disorder - - - - 20301444[PMID] - - ALMS1 centrosome and basal body associated protein - ALMS1 - - KIAA0328 - - - gene with protein product - - - - ClinVar - ALMS1 - - - Ensembl - ENSG00000116127 - - - Genatlas - ALMS1 - - - HGNC - 428 - - - OMIM - 606844 - - - Reactome - Q8TCU4 - - - SwissProt - Q8TCU4 - - - - - 2p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 139396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396 - X-linked cerebral adrenoleukodystrophy - - Clinical subtype - - - Subtype of disorder - - - - 20301491[PMID] - - ATP binding cassette subfamily D member 1 - ABCD1 - - ALDP - AMN - adrenoleukodystrophy - - - gene with protein product - - - - IUPHAR - 788 - - - ClinVar - ABCD1 - - - Ensembl - ENSG00000101986 - - - Genatlas - ABCD1 - - - HGNC - 61 - - - OMIM - 300371 - - - Reactome - P33897 - - - SwissProt - P33897 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 139399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399 - Adrenomyeloneuropathy - - Clinical subtype - - - Subtype of disorder - - - - 20301491[PMID] - - ATP binding cassette subfamily D member 1 - ABCD1 - - ALDP - AMN - adrenoleukodystrophy - - - gene with protein product - - - - IUPHAR - 788 - - - ClinVar - ABCD1 - - - Ensembl - ENSG00000101986 - - - Genatlas - ABCD1 - - - HGNC - 61 - - - OMIM - 300371 - - - Reactome - P33897 - - - SwissProt - P33897 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 139406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139406 - Encephalopathy due to prosaposin deficiency - - Disease - - - Disorder - - - - 1371116[PMID] - - prosaposin - PSAP - - variant Gaucher disease and variant metachromatic leukodystrophy - precursor of saposins - saposin-A - saposin-B - saposin-D - saposin-C - - - gene with protein product - - - - SwissProt - P07602 - - - Ensembl - ENSG00000197746 - - - Genatlas - PSAP - - - HGNC - 9498 - - - OMIM - 176801 - - - Reactome - P07602 - - - ClinVar - PSAP - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=701 - Alopecia universalis - - Disease - - - Disorder - - - - 9445480[PMID] - - HR lysine demethylase and nuclear receptor corepressor - HR - - AU - - - gene with protein product - - - - Reactome - O43593 - - - Ensembl - ENSG00000168453 - - - Genatlas - HR - - - HGNC - 5172 - - - OMIM - 602302 - - - SwissProt - O43593 - - - ClinVar - HR - - - - - 8p21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1010 - Autosomal dominant palmoplantar keratoderma and congenital alopecia - - Disease - - - Disorder - - - - 25168385[PMID] - - gap junction protein alpha 1 - GJA1 - - CX43 - ODD - ODOD - SDTY3 - connexin 43 - oculodentodigital dysplasia (syndactyly type III) - - - gene with protein product - - - - ClinVar - GJA1 - - - Ensembl - ENSG00000152661 - - - Genatlas - GJA1 - - - HGNC - 4274 - - - OMIM - 121014 - - - Reactome - P17302 - - - SwissProt - P17302 - - - IUPHAR - 728 - - - - - 6q22.31 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 1001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1001 - 2q37 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - 20691407[PMID]_23188045[PMID] - - histone deacetylase 4 - HDAC4 - - HA6116 - HD4 - HDAC-4 - HDAC-A - HDACA - KIAA0288 - - - gene with protein product - - - - Reactome - P56524 - - - SwissProt - P56524 - - - Ensembl - ENSG00000068024 - - - Genatlas - HDAC4 - - - HGNC - 14063 - - - IUPHAR - 2659 - - - OMIM - 605314 - - - ClinVar - HDAC4 - - - - - 2q37.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 59 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59 - Allan-Herndon-Dudley syndrome - - Disease - - - Disorder - - - - 20301789[PMID]_18398436[PMID] - - solute carrier family 16 member 2 - SLC16A2 - - MCT7 - MCT8 - XPCT - monocarboxylate transporter 8 - X-linked PEST-containing transporter - DXS128E - - - gene with protein product - - - - Reactome - P36021 - - - IUPHAR - 992 - - - ClinVar - SLC16A2 - - - Genatlas - SLC16A2 - - - HGNC - 10923 - - - OMIM - 300095 - - - SwissProt - P36021 - - - Ensembl - ENSG00000147100 - - - - - Xq13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=127 - Borjeson-Forssman-Lehmann syndrome - - Malformation syndrome - - - Disorder - - - - 12415272[PMID]_23229552[PMID] - - PHD finger protein 6 - PHF6 - - CENP-31 - KIAA1823 - MGC14797 - centromere protein 31 - - - gene with protein product - - - - ClinVar - PHF6 - - - Ensembl - ENSG00000156531 - - - Genatlas - PHF6 - - - HGNC - 18145 - - - OMIM - 300414 - - - SwissProt - Q8IWS0 - - - - - Xq26.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 1263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1263 - Boomerang dysplasia - - Disease - - - Disorder - - - - 20301736[PMID]_15994868[PMID] - - filamin B - FLNB - - ABP-278 - FH1 - TABP - TAP - actin binding protein 278 - beta filamin - - - gene with protein product - - - - Ensembl - ENSG00000136068 - - - Genatlas - FLNB - - - HGNC - 3755 - - - OMIM - 603381 - - - Reactome - O75369 - - - SwissProt - O75369 - - - ClinVar - FLNB - - - - - 3p14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234 - Bartsocas-Papas syndrome - - Malformation syndrome - - - Disorder - - - - 22197488[PMID]_22197489[PMID] - - receptor interacting serine/threonine kinase 4 - RIPK4 - - ANKK2 - DIK - PKC-delta-interacting protein kinase - PKK - RIP4 - protein kinase C-associated kinase - - - gene with protein product - - - - Reactome - P57078 - - - SwissProt - P57078 - - - Ensembl - ENSG00000183421 - - - Genatlas - RIPK4 - - - HGNC - 496 - - - IUPHAR - 2192 - - - OMIM - 605706 - - - ClinVar - RIPK4 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 1231 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1231 - Barber-Say syndrome - - Malformation syndrome - - - Disorder - - - - 26119818[PMID] - - twist family bHLH transcription factor 2 - TWIST2 - - DERMO1 - Dermo-1 - bHLHa39 - - - gene with protein product - - - - Ensembl - ENSG00000233608 - - - ClinVar - TWIST2 - - - Reactome - Q8WVJ9 - - - Genatlas - TWIST2 - - - HGNC - 20670 - - - OMIM - 607556 - - - SwissProt - Q8WVJ9 - - - - - 2q37.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1229 - Congenital intrauterine infection-like syndrome - - Malformation syndrome - - - Disorder - - - - 20727516[PMID] - - occludin - OCLN - - PPP1R115 - phosphatase 1, regulatory subunit 115 - tight junction protein occludin TM4 minus - - - gene with protein product - - - - ClinVar - OCLN - - - Ensembl - ENSG00000197822 - - - Genatlas - OCLN - - - HGNC - 8104 - - - OMIM - 602876 - - - Reactome - Q16625 - - - SwissProt - Q16625 - - - - - 5q13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109 - Bannayan-Riley-Ruvalcaba syndrome - - Clinical subtype - - - Subtype of disorder - - - - 20301661[PMID] - - phosphatase and tensin homolog - PTEN - - MMAC1 - PTEN1 - TEP1 - mutated in multiple advanced cancers 1 - Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN - - - gene with protein product - - - - IUPHAR - 2497 - - - ClinVar - PTEN - - - HGNC - 9588 - - - OMIM - 601728 - - - Reactome - P60484 - - - SwissProt - P60484 - - - Ensembl - ENSG00000171862 - - - Genatlas - PTEN - - - - - 10q23.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1239 - Behr syndrome - - Malformation syndrome - - - Disorder - - - - 35741767[PMID] - - OPA1 mitochondrial dynamin like GTPase - OPA1 - - Dynamin-like 120 kDa protein, mitochondrial - FLJ12460 - KIAA0567 - MGM1 - NPG - NTG - dynamin-like guanosine triphosphatase - mitochondrial dynamin-like GTPase - - - gene with protein product - - - - Reactome - O60313 - - - Ensembl - ENSG00000198836 - - - Genatlas - OPA1 - - - HGNC - 8140 - - - OMIM - 605290 - - - SwissProt - O60313 - - - ClinVar - OPA1 - - - - - 3q29 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=115 - Congenital contractural arachnodactyly - - Malformation syndrome - - - Disorder - - - - 20301560[PMID] - - fibrillin 2 - FBN2 - - DA9 - fibrillin 5 - - - gene with protein product - - - - ClinVar - FBN2 - - - Ensembl - ENSG00000138829 - - - Genatlas - FBN2 - - - HGNC - 3604 - - - OMIM - 612570 - - - Reactome - P35556 - - - SwissProt - P35556 - - - - - 5q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 137625 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137625 - Glycogen storage disease due to muscle and heart glycogen synthase deficiency - - Disease - - - Disorder - - - - - - glycogen synthase 1 - GYS1 - - GSY - - - gene with protein product - - - - HGNC - 4706 - - - OMIM - 138570 - - - Reactome - P13807 - - - SwissProt - P13807 - - - Ensembl - ENSG00000104812 - - - Genatlas - GYS1 - - - ClinVar - GYS1 - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 137608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137608 - Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome - - Clinical subtype - - - Subtype of disorder - - - - 17392703[PMID] - - phosphatase and tensin homolog - PTEN - - MMAC1 - PTEN1 - TEP1 - mutated in multiple advanced cancers 1 - Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN - - - gene with protein product - - - - IUPHAR - 2497 - - - ClinVar - PTEN - - - HGNC - 9588 - - - OMIM - 601728 - - - Reactome - P60484 - - - SwissProt - P60484 - - - Ensembl - ENSG00000171862 - - - Genatlas - PTEN - - - - - 10q23.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1299 - Branchioskeletogenital syndrome - - Malformation syndrome - - - Disorder - - - - 28988429[PMID]_29271567[PMID] - - cadherin 11 - CDH11 - - CAD11 - OB - OB-Cadherin - - - gene with protein product - - - - SwissProt - P55287 - - - HGNC - 1750 - - - Ensembl - ENSG00000140937 - - - OMIM - 600023 - - - Genatlas - CDH11 - - - Reactome - P55287 - - - ClinVar - CDH11 - - - - - 16q21 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 1300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1300 - Autosomal dominant popliteal pterygium syndrome - - Malformation syndrome - - - Disorder - - - - 20301581[PMID] - - interferon regulatory factor 6 - IRF6 - - OFC6 - VWS1 - - - gene with protein product - - - - ClinVar - IRF6 - - - Ensembl - ENSG00000117595 - - - Genatlas - IRF6 - - - HGNC - 6121 - - - OMIM - 607199 - - - Reactome - O14896 - - - SwissProt - O14896 - - - - - 1q32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 137634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137634 - Overgrowth-macrocephaly-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - 17632510[PMID] - - ring finger protein 135 - RNF135 - - MGC13061 - riplet - - - gene with protein product - - - - Ensembl - ENSG00000181481 - - - Genatlas - RNF135 - - - HGNC - 21158 - - - OMIM - 611358 - - - Reactome - Q8IUD6 - - - SwissProt - Q8IUD6 - - - ClinVar - RNF135 - - - - - 17q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297 - Branchio-oculo-facial syndrome - - Malformation syndrome - - - Disorder - - - - 21634087[PMID]_18423521[PMID] - - transcription factor AP-2 alpha - TFAP2A - - AP-2 - AP-2alpha - - - gene with protein product - - - - ClinVar - TFAP2A - - - Reactome - P05549 - - - Ensembl - ENSG00000137203 - - - Genatlas - TFAP2A - - - HGNC - 11742 - - - OMIM - 107580 - - - SwissProt - P05549 - - - - - 6p24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 137639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137639 - Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome - - Clinical subtype - - - Subtype of disorder - - - - 27506977[PMID] - - RNA polymerase III subunit A - POLR3A - - RPC1 - RPC155 - hRPC155 - C160 - - - gene with protein product - - - - ClinVar - POLR3A - - - Ensembl - ENSG00000148606 - - - Genatlas - POLR3A - - - HGNC - 30074 - - - OMIM - 614258 - - - Reactome - O14802 - - - SwissProt - O14802 - - - - - 10q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1276 - Brachydactyly-arterial hypertension syndrome - - Malformation syndrome - - - Disorder - - - - 25961942[PMID] - - phosphodiesterase 3A - PDE3A - - CGI-PDE - cGMP-inhibited 3',5'-cyclic phosphodiesterase A - - - gene with protein product - - - - Ensembl - ENSG00000172572 - - - Genatlas - PDE3A - - - HGNC - 8778 - - - IUPHAR - 1298 - - - OMIM - 123805 - - - Reactome - Q14432 - - - SwissProt - Q14432 - - - ClinVar - PDE3A - - - - - 12p12.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 1275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1275 - Brachydactyly-elbow wrist dysplasia syndrome - - Malformation syndrome - - - Disorder - - - - 30711920[PMID] - - macroH2A.1 histone - MACROH2A1 - - macroH2A1.2 - - - gene with protein product - - - - HGNC - 4740 - - - Ensembl - ENSG00000113648 - - - SwissProt - O75367 - - - Reactome - O75367 - - - OMIM - 610054 - - - - - 5q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23022097[PMID] - - paired like homeodomain 1 - PITX1 - - POTX - PTX1 - - - gene with protein product - - - - Reactome - P78337 - - - Ensembl - ENSG00000069011 - - - Genatlas - PITX1 - - - HGNC - 9004 - - - OMIM - 602149 - - - SwissProt - P78337 - - - ClinVar - PITX1 - - - - - 5q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1270 - Bowen-Conradi syndrome - - Malformation syndrome - - - Disorder - - - - 19463982[PMID] - - EMG1 N1-specific pseudouridine methyltransferase - EMG1 - - C2F - Grcc2f - NEP1 - - - gene with protein product - - - - Reactome - Q92979 - - - Ensembl - ENSG00000126749 - - - Genatlas - EMG1 - - - HGNC - 16912 - - - OMIM - 611531 - - - SwissProt - Q92979 - - - ClinVar - EMG1 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 137605 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137605 - Legius syndrome - - Malformation syndrome - - - Disorder - - - - 20945555[PMID] - - sprouty related EVH1 domain containing 1 - SPRED1 - - FLJ33903 - PPP1R147 - protein phosphatase 1, regulatory subunit 147 - SPRED-1 - - - gene with protein product - - - - Ensembl - ENSG00000166068 - - - Genatlas - SPRED1 - - - HGNC - 20249 - - - OMIM - 609291 - - - Reactome - Q7Z699 - - - SwissProt - Q7Z699 - - - ClinVar - SPRED1 - - - - - 15q14 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1168 - Ataxia-oculomotor apraxia type 1 - - Disease - - - Disorder - - - - 20301629[PMID] - - aprataxin - APTX - - FLJ20157 - AOA - AOA1 - EAOH - EOAHA - - - gene with protein product - - - - ClinVar - APTX - - - Reactome - Q7Z2E3 - - - Ensembl - ENSG00000137074 - - - Genatlas - APTX - - - HGNC - 15984 - - - OMIM - 606350 - - - SwissProt - Q7Z2E3 - - - - - 9p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 137834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137834 - Frank-Ter Haar syndrome - - Disease - - - Disorder - - - - 20137777[PMID] - - SH3 and PX domains 2B - SH3PXD2B - - FLJ20831 - - - gene with protein product - - - - Ensembl - ENSG00000174705 - - - Genatlas - SH3PXD2B - - - HGNC - 29242 - - - OMIM - 613293 - - - SwissProt - A1X283 - - - ClinVar - SH3PXD2B - - - - - 5q35.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 137831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137831 - X-linked intellectual disability-cerebellar hypoplasia syndrome - - Disease - - - Disorder - - - - 20528889[PMID] - - oligophrenin 1 - OPHN1 - - ARHGAP41 - OPN1 - - - gene with protein product - - - - ClinVar - OPHN1 - - - Ensembl - ENSG00000079482 - - - Genatlas - OPHN1 - - - HGNC - 8148 - - - OMIM - 300127 - - - Reactome - O60890 - - - SwissProt - O60890 - - - - - Xq12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1170 - Autosomal recessive cerebelloparenchymal disorder type 3 - - Disease - - - Disorder - - - - 25808372[PMID] - - peptidase, mitochondrial processing subunit alpha - PMPCA - - Alpha-MPP - KIAA0123 - MAS2 - - - gene with protein product - - - - Ensembl - ENSG00000165688 - - - Genatlas - PMPCA - - - HGNC - 18667 - - - OMIM - 613036 - - - Reactome - Q10713 - - - SwissProt - Q10713 - - - ClinVar - PMPCA - - - - - 9q34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1175 - X-linked progressive cerebellar ataxia - - Disease - - - Disorder - - - - 23773993[PMID] - - gap junction protein beta 1 - GJB1 - - CX32 - Charcot-Marie-Tooth neuropathy, X-linked - connexin 32 - - - gene with protein product - - - - IUPHAR - 723 - - - ClinVar - GJB1 - - - Ensembl - ENSG00000169562 - - - Genatlas - GJB1 - - - HGNC - 4283 - - - OMIM - 304040 - - - Reactome - P08034 - - - SwissProt - P08034 - - - - - Xq13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1180 - Ataxia-hypogonadism-choroidal dystrophy syndrome - - Disease - - - Disorder - - - - 24355708[PMID] - - patatin like domain 6, lysophospholipase - PNPLA6 - - NTE - SPG39 - SWS - iPLA2delta - neuropathy target esterase - sws - - - gene with protein product - - - - ClinVar - PNPLA6 - - - Reactome - Q8IY17 - - - Genatlas - PNPLA6 - - - HGNC - 16268 - - - OMIM - 603197 - - - SwissProt - Q8IY17 - - - Ensembl - ENSG00000032444 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1173 - Cerebellar ataxia-hypogonadism syndrome - - Disease - - - Disorder - - - - 24355708[PMID] - - patatin like domain 6, lysophospholipase - PNPLA6 - - NTE - SPG39 - SWS - iPLA2delta - neuropathy target esterase - sws - - - gene with protein product - - - - ClinVar - PNPLA6 - - - Reactome - Q8IY17 - - - Genatlas - PNPLA6 - - - HGNC - 16268 - - - OMIM - 603197 - - - SwissProt - Q8IY17 - - - Ensembl - ENSG00000032444 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23656588[PMID] - - ring finger protein 216 - RNF216 - - TRIAD3 - UBCE7IP1 - ZIN - - - gene with protein product - - - - Ensembl - ENSG00000011275 - - - Genatlas - RNF216 - - - HGNC - 21698 - - - OMIM - 609948 - - - Reactome - Q9NWF9 - - - SwissProt - Q9NWF9 - - - ClinVar - RNF216 - - - - - 7p22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 137681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137681 - Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 - - Disease - - - Disorder - - - - 23430926[PMID] - - G elongation factor mitochondrial 1 - GFM1 - - mtEF-G1 - EFGM - EGF1 - GFM - - - gene with protein product - - - - Ensembl - ENSG00000168827 - - - Genatlas - GFM1 - - - HGNC - 13780 - - - OMIM - 606639 - - - Reactome - Q96RP9 - - - SwissProt - Q96RP9 - - - ClinVar - GFM1 - - - - - 3q25.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 137675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137675 - Histiocytoid cardiomyopathy - - Disease - - - Disorder - - - - 10960495[PMID] - - mitochondrially encoded cytochrome b - MT-CYB - - COB - CYTB - UQCR3 - - - gene with protein product - - - - ClinVar - MT-CYB - - - Ensembl - ENSG00000198727 - - - Genatlas - MT-CYB - - - HGNC - 7427 - - - OMIM - 516020 - - - Reactome - P00156 - - - SwissProt - P00156 - - - - - mitochondria - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 137678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137678 - Spondyloepiphyseal dysplasia with metatarsal shortening - - Disease - - - Disorder - - - - 17726487[PMID] - - collagen type II alpha 1 chain - COL2A1 - - STL1 - - - gene with protein product - - - - ClinVar - COL2A1 - - - Ensembl - ENSG00000139219 - - - Genatlas - COL2A1 - - - HGNC - 2200 - - - OMIM - 120140 - - - Reactome - P02458 - - - SwissProt - P02458 - - - - - 12q13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 137754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137754 - Aminoacylase 1 deficiency - - Disease - - - Disorder - - - - 16465618[PMID] - - aminoacylase 1 - ACY1 - - - - gene with protein product - - - - ClinVar - ACY1 - - - Ensembl - ENSG00000243989 - - - Genatlas - ACY1 - - - HGNC - 177 - - - OMIM - 104620 - - - Reactome - Q03154 - - - SwissProt - Q03154 - - - - - 3p21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 1145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1145 - Infantile-onset X-linked spinal muscular atrophy - - Disease - - - Disorder - - - - 18179898[PMID] - - ubiquitin like modifier activating enzyme 1 - UBA1 - - CFAP124 - POC20 - POC20 centriolar protein homolog (Chlamydomonas) - UBA1, ubiquitin-activating enzyme E1 homolog (yeast) - UBE1X - - - gene with protein product - - - - Ensembl - ENSG00000130985 - - - Genatlas - UBA1 - - - HGNC - 12469 - - - OMIM - 314370 - - - Reactome - P22314 - - - SwissProt - P22314 - - - ClinVar - UBA1 - - - - - Xp11.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 137776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137776 - Lethal congenital contracture syndrome type 2 - - Malformation syndrome - - - Disorder - - - - 17701904[PMID] - - erb-b2 receptor tyrosine kinase 3 - ERBB3 - - HER3 - human epidermal growth factor receptor 3 - - - gene with protein product - - - - IUPHAR - 1798 - - - OMIM - 190151 - - - Reactome - P21860 - - - SwissProt - P21860 - - - ClinVar - ERBB3 - - - Ensembl - ENSG00000065361 - - - Genatlas - ERBB3 - - - HGNC - 3431 - - - - - 12q13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 1149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1149 - Kuskokwim syndrome - - Malformation syndrome - - - Disorder - - - - 23712425[PMID] - - FKBP prolyl isomerase 10 - FKBP10 - - FKBP6 - FLJ20683 - FLJ22041 - FLJ23833 - hFKBP65 - FKBP65 - - - gene with protein product - - - - OMIM - 607063 - - - SwissProt - Q96AY3 - - - Ensembl - ENSG00000141756 - - - Genatlas - FKBP10 - - - HGNC - 18169 - - - ClinVar - FKBP10 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1159 - Progressive pseudorheumatoid dysplasia - - Disease - - - Disorder - - - - 10471507[PMID]_22987568[PMID] - - cellular communication network factor 6 - CCN6 - - CCN6 - WISP-3 - - - gene with protein product - - - - ClinVar - WISP3 - - - Ensembl - ENSG00000112761 - - - Genatlas - WISP3 - - - HGNC - 12771 - - - OMIM - 603400 - - - SwissProt - O95389 - - - - - 6q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 137783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137783 - Lethal congenital contracture syndrome type 3 - - Malformation syndrome - - - Disorder - - - - 17701898[PMID] - - phosphatidylinositol-4-phosphate 5-kinase type 1 gamma - PIP5K1C - - KIAA0589 - LCCS3 - PIP5Kgamma - - - gene with protein product - - - - ClinVar - PIP5K1C - - - Ensembl - ENSG00000186111 - - - Genatlas - PIP5K1C - - - HGNC - 8996 - - - IUPHAR - 2165 - - - OMIM - 606102 - - - Reactome - O60331 - - - SwissProt - O60331 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22610851[PMID] - - myosin binding protein C1 - MYBPC1 - - slow skeletal-type muscle myosin-binding-protein C - ssMyBP-C - - - gene with protein product - - - - SwissProt - Q00872 - - - Ensembl - ENSG00000196091 - - - Genatlas - MYBPC1 - - - HGNC - 7549 - - - OMIM - 160794 - - - Reactome - Q00872 - - - ClinVar - MYBPC1 - - - - - 12q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1215 - Autosomal dominant optic atrophy plus syndrome - - Disease - - - Disorder - - - - 18158317[PMID]_22776096[PMID] - - OPA1 mitochondrial dynamin like GTPase - OPA1 - - Dynamin-like 120 kDa protein, mitochondrial - FLJ12460 - KIAA0567 - MGM1 - NPG - NTG - dynamin-like guanosine triphosphatase - mitochondrial dynamin-like GTPase - - - gene with protein product - - - - Reactome - O60313 - - - Ensembl - ENSG00000198836 - - - Genatlas - OPA1 - - - HGNC - 8140 - - - OMIM - 605290 - - - SwissProt - O60313 - - - ClinVar - OPA1 - - - - - 3q29 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1216 - Autosomal dominant congenital benign spinal muscular atrophy - - Disease - - - Disorder - - - - 24830047[PMID]_22526352[PMID] - - transient receptor potential cation channel subfamily V member 4 - TRPV4 - - CMT2C - OTRPC4 - TRP12 - VR-OAC - VRL-2 - VROAC - osmosensitive transient receptor potential channel 4 - - - gene with protein product - - - - Ensembl - ENSG00000111199 - - - Genatlas - TRPV4 - - - HGNC - 18083 - - - IUPHAR - 510 - - - OMIM - 605427 - - - Reactome - Q9HBA0 - - - SwissProt - Q9HBA0 - - - ClinVar - TRPV4 - - - - - 12q24.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1225 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1225 - Baller-Gerold syndrome - - Malformation syndrome - - - Disorder - - - - 20301383[PMID]_15964893[PMID] - - RecQ like helicase 4 - RECQL4 - - RecQ4 - - - gene with protein product - - - - HGNC - 9949 - - - OMIM - 603780 - - - SwissProt - O94761 - - - ClinVar - RECQL4 - - - Ensembl - ENSG00000160957 - - - Genatlas - RECQL4 - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1226 - Bamforth-Lazarus syndrome - - Malformation syndrome - - - Disorder - - - - 9697705[PMID]_12165566[PMID]_25905381[PMID] - - forkhead box E1 - FOXE1 - - HFKH4 - TTF-2 - thyroid transcription factor 2 - - - gene with protein product - - - - Ensembl - ENSG00000178919 - - - Genatlas - FOXE1 - - - HGNC - 3806 - - - OMIM - 602617 - - - SwissProt - O00358 - - - ClinVar - FOXE1 - - - - - 9q22.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 137888 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137888 - Auriculocondylar syndrome - - Malformation syndrome - - - Disorder - - - - 22560091[PMID] - - G protein subunit alpha i3 - GNAI3 - - 87U6 - Guanine nucleotide-binding protein G(k) subunit alpha - - - gene with protein product - - - - ClinVar - GNAI3 - - - Ensembl - ENSG00000065135 - - - Genatlas - GNAI3 - - - HGNC - 4387 - - - OMIM - 139370 - - - Reactome - P08754 - - - SwissProt - P08754 - - - - - 1p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22560091[PMID] - - phospholipase C beta 4 - PLCB4 - - - - gene with protein product - - - - IUPHAR - 1406 - - - ClinVar - PLCB4 - - - Ensembl - ENSG00000101333 - - - Genatlas - PLCB4 - - - HGNC - 9059 - - - OMIM - 600810 - - - Reactome - Q15147 - - - SwissProt - Q15147 - - - - - 20p12.3-p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24268655[PMID] - - endothelin 1 - EDN1 - - ET1 - - - gene with protein product - - - - ClinVar - EDN1 - - - Ensembl - ENSG00000078401 - - - Genatlas - EDN1 - - - HGNC - 3176 - - - OMIM - 131240 - - - Reactome - P05305 - - - SwissProt - P05305 - - - - - 6p24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 137893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137893 - Male infertility due to large-headed multiflagellar polyploid spermatozoa - - Clinical subtype - - - Subtype of disorder - - - - 17435757[PMID]_21733974[PMID] - - aurora kinase C - AURKC - - ARK3 - AurC - - - gene with protein product - - - - Reactome - Q9UQB9 - - - ClinVar - AURKC - - - Ensembl - ENSG00000105146 - - - Genatlas - AURKC - - - HGNC - 11391 - - - IUPHAR - 1938 - - - OMIM - 603495 - - - SwissProt - Q9UQB9 - - - - - 19q13.43 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 34932939[PMID] - - dynein heavy chain domain 1 - DNHD1 - - DKFZp686J0796 - FLJ32752 - FLJ35709 - FLJ46184 - - - gene with protein product - - - - HGNC - 26532 - - - Ensembl - ENSG00000179532 - - - OMIM - 617277 - - - SwissProt - Q96M86 - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33472045[PMID] - - cilia and flagella associated protein 47 - CFAP47 - - MGC34831 - RP13-11B7.1 - FLJ36601 - - - gene with protein product - - - - HGNC - 26708 - - - OMIM - 301057 - - - SwissProt - Q6ZTR5 - - - Ensembl - ENSG00000165164 - - - - - Xp21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34237282[PMID] - - dynein axonemal heavy chain 10 - DNAH10 - - FLJ43808 - - - gene with protein product - - - - Genatlas - DNAH10 - - - OMIM - 605884 - - - SwissProt - Q8IVF4 - - - Ensembl - ENSG00000197653 - - - HGNC - 2941 - - - ClinVar - DNAH10 - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35228300[PMID] - - A-kinase anchoring protein 3 - AKAP3 - - AKAP110 - CT82 - cancer/testis antigen 82 - SOB1 - Fibrous Sheath Protein of 95 kDa - FSP95 - - - gene with protein product - - - - HGNC - 373 - - - Ensembl - ENSG00000111254 - - - OMIM - 604689 - - - SwissProt - O75969 - - - - - 12p13.32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 35387802[PMID] - - cilia and flagella associated protein 61 - CFAP61 - - DKFZP434K156 - dJ1002M8.3 - CaM-IP3 - hypothetical protein LOC26074 - - - gene with protein product - - - - HGNC - 15872 - - - Ensembl - ENSG00000089101 - - - OMIM - 620381 - - - SwissProt - Q8NHU2 - - - - - 20p11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35534203[PMID] - - armadillo repeat containing 12 - ARMC12 - - FLJ25390 - - - gene with protein product - - - - HGNC - 21099 - - - Ensembl - ENSG00000157343 - - - OMIM - 620377 - - - SwissProt - Q5T9G4 - - - - - 6p21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 33689014[PMID] - - intraflagellar transport 74 - IFT74 - - capillary morphogenesis protein 1 - CMG1 - CMG-1 - FLJ22621 - - - gene with protein product - - - - HGNC - 21424 - - - Reactome - Q96LB3 - - - Genatlas - IFT74 - - - Ensembl - ENSG00000096872 - - - ClinVar - IFT74 - - - OMIM - 608040 - - - SwissProt - Q96LB3 - - - - - 9p21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1186 - Infantile-onset spinocerebellar ataxia - - Disease - - - Disorder - - - - 20301746[PMID] - - twinkle mtDNA helicase - TWNK - - FLJ21832 - PEO - PEO1 - T7 helicase-related protein with intramitochondrial nucleoid localization - TWINKLE - TWINL - - - gene with protein product - - - - Ensembl - ENSG00000107815 - - - Genatlas - C10orf2 - - - HGNC - 1160 - - - OMIM - 606075 - - - Reactome - Q96RR1 - - - SwissProt - Q96RR1 - - - ClinVar - C10orf2 - - - - - 10q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 137898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137898 - Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome - - Disease - - - Disorder - - - - 17384640[PMID] - - aspartyl-tRNA synthetase 2, mitochondrial - DARS2 - - Aspartate tRNA ligase 2, mitochondrial - FLJ10514 - mtAspRS - aspartate tRNA ligase 2, mitochondrial - - - gene with protein product - - - - ClinVar - DARS2 - - - Ensembl - ENSG00000117593 - - - Genatlas - DARS2 - - - HGNC - 25538 - - - OMIM - 610956 - - - Reactome - Q6PI48 - - - SwissProt - Q6PI48 - - - - - 1q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1187 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1187 - Lethal ataxia with deafness and optic atrophy - - Disease - - - Disorder - - - - 20301738[PMID] - - phosphoribosyl pyrophosphate synthetase 1 - PRPS1 - - PRS I - ribose-phosphate diphosphokinase 1 - CMTX5 - DFNX1 - PRS-I - PPRibP - - - gene with protein product - - - - ClinVar - PRPS1 - - - Ensembl - ENSG00000147224 - - - Genatlas - PRPS1 - - - HGNC - 9462 - - - OMIM - 311850 - - - Reactome - P60891 - - - SwissProt - P60891 - - - - - Xq22.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 1190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1190 - Atelosteogenesis type I - - Malformation syndrome - - - Disorder - - - - 20301736[PMID] - - filamin B - FLNB - - ABP-278 - FH1 - TABP - TAP - actin binding protein 278 - beta filamin - - - gene with protein product - - - - Ensembl - ENSG00000136068 - - - Genatlas - FLNB - - - HGNC - 3755 - - - OMIM - 603381 - - - Reactome - O75369 - - - SwissProt - O75369 - - - ClinVar - FLNB - - - - - 3p14.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 137908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137908 - Hypotonia with lactic acidemia and hyperammonemia - - Disease - - - Disorder - - - - 17873122[PMID] - - mitochondrial ribosomal protein S22 - MRPS22 - - GIBT - GK002 - MRP-S22 - mS22 - C3orf5 - - - gene with protein product - - - - Ensembl - ENSG00000175110 - - - Genatlas - MRPS22 - - - HGNC - 14508 - - - OMIM - 605810 - - - Reactome - P82650 - - - ClinVar - MRPS22 - - - SwissProt - P82650 - - - - - 3q23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1200 - Burn-McKeown syndrome - - Malformation syndrome - - - Disorder - - - - 25913037[PMID] - - RNA polymerase I subunit A - POLR1A - - DKFZP586M0122 - FLJ21915 - RPA1 - RPA190 - RPO1-4 - - - gene with protein product - - - - HGNC - 17264 - - - ClinVar - POLR1A - - - SwissProt - O95602 - - - Reactome - O95602 - - - Ensembl - ENSG00000068654 - - - OMIM - 616404 - - - Genatlas - POLR1A - - - - - 2p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25434003[PMID] - - thioredoxin like 4A - TXNL4A - - DIB1 - DIM1 - HsT161 - SNRNP15 - U5-15kD - similar to S. pombe dim1+ - - - gene with protein product - - - - Ensembl - ENSG00000141759 - - - Genatlas - TXNL4A - - - HGNC - 30551 - - - OMIM - 611595 - - - Reactome - P83876 - - - SwissProt - P83876 - - - ClinVar - TXNL4A - - - - - 18q23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 141258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141258 - Tessier number 4 facial cleft - - Morphological anomaly - - - Disorder - - - - 21703590[PMID] - - sperm antigen with calponin homology and coiled-coil domains 1 like - SPECC1L - - CYTSA - KIAA0376 - cytokinesis and spindle organization A - - - gene with protein product - - - - Reactome - Q69YQ0 - - - Ensembl - ENSG00000100014 - - - Genatlas - SPECC1L - - - HGNC - 29022 - - - OMIM - 614140 - - - SwissProt - Q69YQ0 - - - ClinVar - SPECC1L - - - - - 22q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1458 - CODAS syndrome - - Malformation syndrome - - - Disorder - - - - 25574826[PMID] - - lon peptidase 1, mitochondrial - LONP1 - - LonHS - PIM1 - hLON - Mitochondrial ATP-dependent protease Lon - - - gene with protein product - - - - IUPHAR - 3180 - - - ClinVar - LONP1 - - - Genatlas - LONP1 - - - HGNC - 9479 - - - OMIM - 605490 - - - SwissProt - P36776 - - - Ensembl - ENSG00000196365 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454 - Joubert syndrome with hepatic defect - - Disease - - - Disorder - - - - 19574260[PMID]_17160906[PMID]_20615230[PMID]_20301500[PMID] - - transmembrane protein 67 - TMEM67 - - NPHP11 - JBTS6 - MGC26979 - Meckelin - - - gene with protein product - - - - ClinVar - TMEM67 - - - Ensembl - ENSG00000164953 - - - Genatlas - TMEM67 - - - HGNC - 28396 - - - OMIM - 609884 - - - Reactome - Q5HYA8 - - - SwissProt - Q5HYA8 - - - - - 8q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19574260[PMID]_20301500[PMID] - - RPGRIP1 like - RPGRIP1L - - CORS3 - FTM - JBTS7 - KIAA1005 - MKS5 - Meckel syndrome, type 5 - NPHP8 - PPP1R134 - fantom homolog - protein phosphatase 1, regulatory subunit 134 - - - gene with protein product - - - - ClinVar - RPGRIP1L - - - Ensembl - ENSG00000103494 - - - Genatlas - RPGRIP1L - - - HGNC - 29168 - - - OMIM - 610937 - - - Reactome - Q68CZ1 - - - SwissProt - Q68CZ1 - - - - - 16q12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19574260[PMID]_20301500[PMID] - - coiled-coil and C2 domain containing 2A - CC2D2A - - JBTS9 - KIAA1345 - MKS6 - Meckel syndrome, type 6 - - - gene with protein product - - - - ClinVar - CC2D2A - - - Reactome - Q9P2K1 - - - SwissProt - Q9P2K1 - - - Ensembl - ENSG00000048342 - - - Genatlas - CC2D2A - - - HGNC - 29253 - - - OMIM - 612013 - - - - - 4p15.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301500[PMID]_19668216[PMID] - - inositol polyphosphate-5-phosphatase E - INPP5E - - CORS1 - PPI5PIV - pharbin - Phosphatidylinositol polyphosphate 5-phosphatase type IV - - - gene with protein product - - - - Ensembl - ENSG00000148384 - - - Genatlas - INPP5E - - - HGNC - 21474 - - - OMIM - 613037 - - - Reactome - Q9NRR6 - - - SwissProt - Q9NRR6 - - - ClinVar - INPP5E - - - IUPHAR - 1456 - - - - - 9q34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=190 - Coats disease - - Disease - - - Disorder - - - - 20301506[PMID]_10484772[PMID] - - norrin cystine knot growth factor NDP - NDP - - norrin - - - gene with protein product - - - - Reactome - Q00604 - - - ClinVar - NDP - - - Ensembl - ENSG00000124479 - - - Genatlas - NDP - - - HGNC - 7678 - - - OMIM - 300658 - - - SwissProt - Q00604 - - - - - Xp11.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 1429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1429 - Benign hereditary chorea - - Disease - - - Disorder - - - - 12891678[PMID]_16220345[PMID]_24555207[PMID] - - NK2 homeobox 1 - NKX2-1 - - TTF-1 - TTF1 - - - gene with protein product - - - - ClinVar - NKX2-1 - - - Reactome - P43699 - - - Ensembl - ENSG00000136352 - - - Genatlas - NKX2-1 - - - HGNC - 11825 - - - OMIM - 600635 - - - SwissProt - P43699 - - - - - 14q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26085604[PMID] - - adenylate cyclase 5 - ADCY5 - - AC5 - - - gene with protein product - - - - IUPHAR - 1282 - - - Ensembl - ENSG00000173175 - - - Genatlas - ADCY5 - - - HGNC - 236 - - - OMIM - 600293 - - - Reactome - O95622 - - - SwissProt - O95622 - - - ClinVar - ADCY5 - - - - - 3q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1426 - Greenberg dysplasia - - Disease - - - Disorder - - - - 21327084[PMID] - - lamin B receptor - LBR - - DHCR14B - TDRD18 - tudor domain containing 18 - - - gene with protein product - - - - ClinVar - LBR - - - OMIM - 600024 - - - Reactome - Q14739 - - - SwissProt - Q14739 - - - Ensembl - ENSG00000143815 - - - Genatlas - LBR - - - HGNC - 6518 - - - - - 1q42.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1427 - Autosomal recessive otospondylomegaepiphyseal dysplasia - - Disease - - - Disorder - - - - 10677296[PMID]_21438135[PMID] - - collagen type XI alpha 2 chain - COL11A2 - - HKE5 - - - gene with protein product - - - - ClinVar - COL11A2 - - - Ensembl - ENSG00000204248 - - - Genatlas - COL11A2 - - - HGNC - 2187 - - - OMIM - 120290 - - - Reactome - P13942 - - - SwissProt - P13942 - - - - - 6p21.32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 1435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1435 - Xq21 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - 17935254[PMID] - - POU class 3 homeobox 4 - POU3F4 - - BRN4 - DFNX2 - OTF9 - brain-4 - Octamer-binding transcription factor 9 - - - gene with protein product - - - - ClinVar - POU3F4 - - - Ensembl - ENSG00000196767 - - - Genatlas - POU3F4 - - - HGNC - 9217 - - - OMIM - 300039 - - - SwissProt - P49335 - - - - - Xq21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 155878 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155878 - Submucosal cleft palate - - Morphological anomaly - - - Disorder - - - - 27018472[PMID]_27018475[PMID] - - grainyhead like transcription factor 3 - GRHL3 - - SOM - sister-of-mammalian grainyhead - - - gene with protein product - - - - Reactome - Q8TE85 - - - Ensembl - ENSG00000158055 - - - Genatlas - GRHL3 - - - HGNC - 25839 - - - OMIM - 608317 - - - SwissProt - Q8TE85 - - - ClinVar - GRHL3 - - - - - 1p36.11 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 17468296[PMID] - - ubiquitin B - UBB - - FLJ25987 - MGC8385 - polyubiquitin B - - - gene with protein product - - - - OMIM - 191339 - - - Ensembl - ENSG00000170315 - - - HGNC - 12463 - - - Genatlas - UBB - - - SwissProt - P0CG47 - - - Reactome - P0CG47 - - - ClinVar - UBB - - - - - 17p11.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 1490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1490 - Corneal dystrophy-perceptive deafness syndrome - - Malformation syndrome - - - Disorder - - - - 17220209[PMID]_18922146[PMID] - - solute carrier family 4 member 11 - SLC4A11 - - NaBC1 - dJ794I6.2 - BTR1 - FECD4 - sodium-coupled borate cotransporter 1 - bicarbonate transporter related protein 1 - - - gene with protein product - - - - Ensembl - ENSG00000088836 - - - Genatlas - SLC4A11 - - - HGNC - 16438 - - - OMIM - 610206 - - - SwissProt - Q8NBS3 - - - IUPHAR - 913 - - - ClinVar - SLC4A11 - - - - - 20p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1486 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1486 - Lethal congenital contracture syndrome type 1 - - Malformation syndrome - - - Disorder - - - - 18204449[PMID] - - GLE1 RNA export mediator - GLE1 - - hGLE1 - - - gene with protein product - - - - Ensembl - ENSG00000119392 - - - Genatlas - GLE1 - - - HGNC - 4315 - - - OMIM - 603371 - - - SwissProt - Q53GS7 - - - Reactome - Q53GS7 - - - ClinVar - GLE1 - - - - - 9q34.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 141276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141276 - Tessier number 7 facial cleft - - Morphological anomaly - - - Disorder - - - - 19208383[PMID] - - patched 2 - PTCH2 - - SLC65B2 - - - gene with protein product - - - - ClinVar - PTCH2 - - - Ensembl - ENSG00000117425 - - - Genatlas - PTCH2 - - - HGNC - 9586 - - - OMIM - 603673 - - - Reactome - Q9Y6C5 - - - SwissProt - Q9Y6C5 - - - - - 1p34.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21703590[PMID] - - sperm antigen with calponin homology and coiled-coil domains 1 like - SPECC1L - - CYTSA - KIAA0376 - cytokinesis and spindle organization A - - - gene with protein product - - - - Reactome - Q69YQ0 - - - Ensembl - ENSG00000100014 - - - Genatlas - SPECC1L - - - HGNC - 29022 - - - OMIM - 614140 - - - SwissProt - Q69YQ0 - - - ClinVar - SPECC1L - - - - - 22q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466 - COFS syndrome - - Clinical subtype - - - Subtype of disorder - - - - 11443545[PMID] - - ERCC excision repair 2, TFIIH core complex helicase subunit - ERCC2 - - EM9 - MAG - MGC102762 - MGC126218 - MGC126219 - TFIIH - TFIIH basal transcription factor complex helicase XPB subunit - excision repair cross-complementing rodent repair deficiency, complementation group 2 protein - - - gene with protein product - - - - ClinVar - ERCC2 - - - Ensembl - ENSG00000104884 - - - Genatlas - ERCC2 - - - HGNC - 3434 - - - OMIM - 126340 - - - Reactome - P18074 - - - SwissProt - P18074 - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301516[PMID] - - ERCC excision repair 6, chromatin remodeling factor - ERCC6 - - ARMD5 - CSB - Cockayne syndrome B protein - RAD26 - - - gene with protein product - - - - ClinVar - ERCC6 - - - Ensembl - ENSG00000225830 - - - Genatlas - ERCC6 - - - HGNC - 3438 - - - OMIM - 609413 - - - Reactome - Q03468 - - - SwissProt - Q03468 - - - - - 10q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24700531[PMID] - - ERCC excision repair 5, endonuclease - ERCC5 - - Cockayne syndrome - - - gene with protein product - - - - Genatlas - ERCC5 - - - HGNC - 3437 - - - OMIM - 133530 - - - Reactome - P28715 - - - SwissProt - P28715 - - - Ensembl - ENSG00000134899 - - - ClinVar - ERCC5 - - - - - 13q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17273966[PMID] - - ERCC excision repair 1, endonuclease non-catalytic subunit - ERCC1 - - RAD10 - - - gene with protein product - - - - SwissProt - P07992 - - - Ensembl - ENSG00000012061 - - - Genatlas - ERCC1 - - - HGNC - 3433 - - - OMIM - 126380 - - - Reactome - P07992 - - - ClinVar - ERCC1 - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 141291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141291 - Cleft lip and alveolus - - Morphological anomaly - - - Disorder - - - - - - msh homeobox 1 - MSX1 - - HYD1 - OFC5 - - - gene with protein product - - - - ClinVar - MSX1 - - - HGNC - 7391 - - - OMIM - 142983 - - - SwissProt - P28360 - - - Ensembl - ENSG00000163132 - - - Genatlas - MSX1 - - - - - 4p16.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 16740912[PMID]_21567929[PMID] - - tumor protein p63 - TP63 - - NBP - OFC8 - SHFM4 - p51 - p53CP - p63 - p73H - p73L - p40 - EEC3 - KET - - - gene with protein product - - - - Ensembl - ENSG00000073282 - - - Genatlas - TP63 - - - HGNC - 15979 - - - OMIM - 603273 - - - Reactome - Q9H3D4 - - - SwissProt - Q9H3D4 - - - ClinVar - TP63 - - - - - 3q28 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 17438386[PMID] - - interferon regulatory factor 6 - IRF6 - - OFC6 - VWS1 - - - gene with protein product - - - - ClinVar - IRF6 - - - Ensembl - ENSG00000117595 - - - Genatlas - IRF6 - - - HGNC - 6121 - - - OMIM - 607199 - - - Reactome - O14896 - - - SwissProt - O14896 - - - - - 1q32.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 16674562[PMID] - - nectin cell adhesion molecule 1 - NECTIN1 - - Nectin-1 - CLPED1 - HIgR - OFC7 - PRR - PRR1 - PVRR1 - SK-12 - nectin - CD111 - - - gene with protein product - - - - ClinVar - NECTIN1 - - - Ensembl - ENSG00000110400 - - - Genatlas - PVRL1 - - - HGNC - 9706 - - - OMIM - 600644 - - - Reactome - Q15223 - - - SwissProt - Q15223 - - - - - 11q23.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 1410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1410 - Uncombable hair syndrome - - Disease - - - Disorder - - - - 27866708[PMID] - - peptidyl arginine deiminase 3 - PADI3 - - PDI3 - - - gene with protein product - - - - HGNC - 18337 - - - OMIM - 606755 - - - Genatlas - PADI3 - - - SwissProt - Q9ULW8 - - - Reactome - Q9ULW8 - - - Ensembl - ENSG00000142619 - - - IUPHAR - 2878 - - - ClinVar - PADI3 - - - - - 1p36.13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 27866708[PMID] - - transglutaminase 3 - TGM3 - - E polypeptide, protein-glutamine-gamma-glutamyltransferase - TGE - - - gene with protein product - - - - HGNC - 11779 - - - OMIM - 600238 - - - Genatlas - TGM3 - - - SwissProt - Q08188 - - - Ensembl - ENSG00000125780 - - - ClinVar - TGM3 - - - - - 20p13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 1412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1412 - Tarsal-carpal coalition syndrome - - Malformation syndrome - - - Disorder - - - - 11545688[PMID]_21538686[PMID] - - noggin - NOG - - - - gene with protein product - - - - Ensembl - ENSG00000183691 - - - Genatlas - NOG - - - HGNC - 7866 - - - OMIM - 602991 - - - Reactome - Q13253 - - - SwissProt - Q13253 - - - ClinVar - NOG - - - - - 17q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1416 - Familial calcium pyrophosphate deposition - - Disease - - - Disorder - - - - 29578045[PMID] - - TNF receptor superfamily member 11b - TNFRSF11B - - OCIF - TR1 - osteoclastogenesis inhibitory factor - - - gene with protein product - - - - IUPHAR - 1882 - - - ClinVar - TNFRSF11B - - - Ensembl - ENSG00000164761 - - - Genatlas - TNFRSF11B - - - HGNC - 11909 - - - OMIM - 602643 - - - Reactome - O00300 - - - SwissProt - O00300 - - - - - 8q24.12 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 21102543[PMID] - - ANKH inorganic pyrophosphate transport regulator - ANKH - - solute carrier family 62, member 1 - SLC62A1 - Mineralization regulator ANKH - ANK - CPPDD - HANK - - - gene with protein product - - - - IUPHAR - 3046 - - - ClinVar - ANKH - - - Ensembl - ENSG00000154122 - - - Genatlas - ANKH - - - HGNC - 15492 - - - OMIM - 605145 - - - Reactome - Q9HCJ1 - - - SwissProt - Q9HCJ1 - - - - - 5p15.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1394 - Cerebrofaciothoracic dysplasia - - Malformation syndrome - - - Disorder - - - - 24194475[PMID] - - transmembrane and coiled-coil domains 1 - TMCO1 - - Ca(2+) load-activated Ca(2+) channel - HP10122 - - - gene with protein product - - - - Ensembl - ENSG00000143183 - - - Genatlas - TMCO1 - - - HGNC - 18188 - - - OMIM - 614123 - - - SwissProt - Q9UM00 - - - ClinVar - TMCO1 - - - - - 1q24.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 1401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1401 - CHAND syndrome - - Malformation syndrome - - - Disorder - - - - 28940926[PMID]_25098893[PMID] - - receptor interacting serine/threonine kinase 4 - RIPK4 - - ANKK2 - DIK - PKC-delta-interacting protein kinase - PKK - RIP4 - protein kinase C-associated kinase - - - gene with protein product - - - - Reactome - P57078 - - - SwissProt - P57078 - - - Ensembl - ENSG00000183421 - - - Genatlas - RIPK4 - - - HGNC - 496 - - - IUPHAR - 2192 - - - OMIM - 605706 - - - ClinVar - RIPK4 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 141074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141074 - External auditory canal aplasia/hypoplasia - - Morphological anomaly - - - Disorder - - - - 22152683[PMID] - - teashirt zinc finger homeobox 1 - TSHZ1 - - NY-CO-33 - TSH1 - - - gene with protein product - - - - ClinVar - TSHZ1 - - - Ensembl - ENSG00000179981 - - - Genatlas - TSHZ1 - - - HGNC - 10669 - - - OMIM - 614427 - - - SwissProt - Q6ZSZ6 - - - - - 18q22.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=174 - Metaphyseal chondrodysplasia, Schmid type - - Disease - - - Disorder - - - - 17403716[PMID] - - collagen type X alpha 1 chain - COL10A1 - - Schmid metaphyseal chondrodysplasia - - - gene with protein product - - - - ClinVar - COL10A1 - - - Ensembl - ENSG00000123500 - - - Genatlas - COL10A1 - - - HGNC - 2185 - - - OMIM - 120110 - - - Reactome - Q03692 - - - SwissProt - Q03692 - - - - - 6q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1425 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1425 - Desbuquois syndrome - - Malformation syndrome - - - Disorder - - - - 31325655[PMID]_27599773[PMID] - - chondroitin sulfate N-acetylgalactosaminyltransferase 1 - CSGALNACT1 - - ChGn - FLJ11264 - chondroitin beta1,4 N-acetylgalactosaminyltransferase - glucuronylgalactosylproteoglycan 4-beta-N- acetylgalactosaminyltransferase - CSGalNAcT-1 - - - gene with protein product - - - - Ensembl - ENSG00000147408 - - - OMIM - 616615 - - - SwissProt - Q8TDX6 - - - HGNC - 24290 - - - - - 8p21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22539336[PMID] - - calcium activated nucleotidase 1 - CANT1 - - SCAN-1 - SHAPY - Soluble Ca-Activated Nucleotidase, isozyme 1 - apyrase 1 homolog (C. lectularius) - - - gene with protein product - - - - Reactome - Q8WVQ1 - - - Ensembl - ENSG00000171302 - - - Genatlas - CANT1 - - - HGNC - 19721 - - - OMIM - 613165 - - - SwissProt - Q8WVQ1 - - - ClinVar - CANT1 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24581741[PMID] - - xylosyltransferase 1 - XYLT1 - - PXYLT1 - XT-I - protein xylosyltransferase 1 - - - gene with protein product - - - - ClinVar - XYLT1 - - - Ensembl - ENSG00000103489 - - - Genatlas - XYLT1 - - - HGNC - 15516 - - - OMIM - 608124 - - - SwissProt - Q86Y38 - - - Reactome - Q86Y38 - - - - - 16p12.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 156728 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156728 - Spondyloepimetaphyseal dysplasia, matrilin-3 type - - Disease - - - Disorder - - - - 15121775[PMID] - - matrilin 3 - MATN3 - - EDM5 - HOA - - - gene with protein product - - - - SwissProt - O15232 - - - Ensembl - ENSG00000132031 - - - Genatlas - MATN3 - - - HGNC - 6909 - - - OMIM - 602109 - - - Reactome - O15232 - - - ClinVar - MATN3 - - - - - 2p24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163 - Hereditary hyperferritinemia-cataract syndrome - - Disease - - - Disorder - - - - 10759702[PMID] - - ferritin light chain - FTL - - L apoferritin - MGC71996 - NBIA3 - ferritin L subunit - ferritin L-chain - ferritin light polypeptide-like 3 - neurodegeneration with brain iron accumulation 3 - FTL1 - - - gene with protein product - - - - ClinVar - FTL - - - Ensembl - ENSG00000087086 - - - Genatlas - FTL - - - HGNC - 3999 - - - OMIM - 134790 - - - Reactome - P02792 - - - SwissProt - P02792 - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 1366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1366 - Autosomal recessive palmoplantar keratoderma and congenital alopecia - - Disease - - - Disorder - - - - 35413293[PMID] - - lanosterol synthase - LSS - - OSC - Oxidosqualene-lanosterol cyclase - - - gene with protein product - - - - Ensembl - ENSG00000160285 - - - Genatlas - LSS - - - HGNC - 6708 - - - IUPHAR - 2434 - - - OMIM - 600909 - - - Reactome - P48449 - - - SwissProt - P48449 - - - ClinVar - LSS - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1393 - Cerebrocostomandibular syndrome - - Malformation syndrome - - - Disorder - - - - 25047197[PMID] - - small nuclear ribonucleoprotein polypeptides B and B1 - SNRPB - - COD - Sm-B/B' - SmB/SmB' - snRNP-B - - - gene with protein product - - - - Ensembl - ENSG00000125835 - - - Genatlas - SNRPB - - - HGNC - 11153 - - - OMIM - 182282 - - - Reactome - P14678 - - - SwissProt - P14678 - - - ClinVar - SNRPB - - - - - 20p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 157820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157820 - Cold-induced sweating syndrome - - Disease - - - Disorder - - - - 27392078[PMID] - - kelch like family member 7 - KLHL7 - - KLHL6 - RP42 - SBBI26 - retinitis pigmentosa 42 - - - gene with protein product - - - - Ensembl - ENSG00000122550 - - - Genatlas - KLHL7 - - - HGNC - 15646 - - - OMIM - 611119 - - - SwissProt - Q8IXQ5 - - - ClinVar - KLHL7 - - - - - 7p15.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 21370513[PMID]_12509788[PMID]_17436251[PMID] - - cytokine receptor like factor 1 - CRLF1 - - CISS - CISS1 - CLF - CLF-1 - cold-induced sweating syndrome - - - gene with protein product - - - - ClinVar - CRLF1 - - - Ensembl - ENSG00000006016 - - - Genatlas - CRLF1 - - - HGNC - 2364 - - - OMIM - 604237 - - - Reactome - O75462 - - - SwissProt - O75462 - - - - - 19p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 1678282[PMID]_21370513[PMID]_20400119[PMID] - - cardiotrophin like cytokine factor 1 - CLCF1 - - B-cell stimulating factor 3 - BSF-3 - BSF3 - CISS2 - CLC - NNT-1 - NNT1 - NR6 - cold-induced sweating syndrome 2 - novel neurotrophin-1 - - - gene with protein product - - - - ClinVar - CLCF1 - - - Ensembl - ENSG00000175505 - - - Genatlas - CLCF1 - - - HGNC - 17412 - - - OMIM - 607672 - - - Reactome - Q9UBD9 - - - SwissProt - Q9UBD9 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 157798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157798 - Serrated polyposis syndrome - - Disease - - - Disorder - - - - 27081527[PMID] - - ring finger protein 43 - RNF43 - - DKFZp781H0392 - FLJ20315 - URCC - RNF124 - - - gene with protein product - - - - HGNC - 18505 - - - OMIM - 612482 - - - Genatlas - RNF43 - - - SwissProt - Q68DV7 - - - Reactome - Q68DV7 - - - Ensembl - ENSG00000108375 - - - ClinVar - RNF43 - - - - - 17q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1388 - Catel-Manzke syndrome - - Malformation syndrome - - - Disorder - - - - 25480037[PMID] - - TDP-glucose 4,6-dehydratase - TGDS - - SDR2E1 - TDPGD - short chain dehydrogenase/reductase family 2E, member 1 - - - gene with protein product - - - - Ensembl - ENSG00000088451 - - - Genatlas - TGDS - - - HGNC - 20324 - - - OMIM - 616146 - - - SwissProt - O95455 - - - ClinVar - TGDS - - - - - 13q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 157801 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157801 - Mesoaxial synostotic syndactyly with phalangeal reduction - - Morphological anomaly - - - Disorder - - - - 25466284[PMID] - - basic helix-loop-helix family member a9 - BHLHA9 - - BHLHF42 - Fingerin - bHLHa9 - - - gene with protein product - - - - ClinVar - BHLHA9 - - - Ensembl - ENSG00000205899 - - - Genatlas - BHLHA9 - - - HGNC - 35126 - - - OMIM - 615416 - - - SwissProt - Q7RTU4 - - - - - 17p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1387 - Cataract-intellectual disability-hypogonadism syndrome - - Malformation syndrome - - - Disorder - - - - 23420520[PMID] - - RAB3 GTPase activating protein catalytic subunit 1 - RAB3GAP1 - - KIAA0066 - RAB3GAP - RAB3GAP130 - WARBM1 - - - gene with protein product - - - - Reactome - Q15042 - - - ClinVar - RAB3GAP1 - - - Genatlas - RAB3GAP1 - - - HGNC - 17063 - - - OMIM - 602536 - - - SwissProt - Q15042 - - - Ensembl - ENSG00000115839 - - - - - 2q21.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23420520[PMID] - - RAB3 GTPase activating non-catalytic protein subunit 2 - RAB3GAP2 - - DKFZP434D245 - KIAA0839 - RAB3-GAP150 - SPG69 - - - gene with protein product - - - - Reactome - Q9H2M9 - - - ClinVar - RAB3GAP2 - - - Ensembl - ENSG00000118873 - - - Genatlas - RAB3GAP2 - - - HGNC - 17168 - - - OMIM - 609275 - - - SwissProt - Q9H2M9 - - - - - 1q41 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 157791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157791 - Epithelioid hemangioendothelioma - - Disease - - - Disorder - - - - 24986479[PMID] - - transcription factor binding to IGHM enhancer 3 - TFE3 - - TFEA - bHLHe33 - transcription factor E family, member A - - - gene with protein product - - - - Reactome - P19532 - - - ClinVar - TFE3 - - - Ensembl - ENSG00000068323 - - - Genatlas - TFE3 - - - HGNC - 11752 - - - OMIM - 314310 - - - SwissProt - P19532 - - - - - Xp11.23 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 24986479[PMID] - - calmodulin binding transcription activator 1 - CAMTA1 - - KIAA0833 - - - gene with protein product - - - - Ensembl - ENSG00000171735 - - - Genatlas - CAMTA1 - - - HGNC - 18806 - - - OMIM - 611501 - - - SwissProt - Q9Y6Y1 - - - ClinVar - CAMTA1 - - - - - 1p36.31-p36.23 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 24986479[PMID] - - Yes1 associated transcriptional regulator - YAP1 - - YAP-1 - YAP65 - - - gene with protein product - - - - Ensembl - ENSG00000137693 - - - Genatlas - YAP1 - - - HGNC - 16262 - - - OMIM - 606608 - - - Reactome - P46937 - - - SwissProt - P46937 - - - ClinVar - YAP1 - - - - - 11q22.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 24986479[PMID] - - WW domain containing transcription regulator 1 - WWTR1 - - DKFZp586I1419 - TAZ - transcriptional coactivator with PDZ-binding motif - - - gene with protein product - - - - ClinVar - WWTR1 - - - Ensembl - ENSG00000018408 - - - Genatlas - WWTR1 - - - HGNC - 24042 - - - OMIM - 607392 - - - Reactome - Q9GZV5 - - - SwissProt - Q9GZV5 - - - - - 3q25.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 157794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157794 - Hereditary mixed polyposis syndrome - - Disease - - - Disorder - - - - 16525031[PMID] - - bone morphogenetic protein receptor type 1A - BMPR1A - - ALK3 - CD292 - - - gene with protein product - - - - HGNC - 1076 - - - IUPHAR - 1786 - - - OMIM - 601299 - - - Reactome - P36894 - - - SwissProt - P36894 - - - ClinVar - BMPR1A - - - Ensembl - ENSG00000107779 - - - Genatlas - BMPR1A - - - - - 10q23.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22561515[PMID] - - gremlin 1, DAN family BMP antagonist - GREM1 - - DAND2 - DRM - HMPS - hereditary mixed polyposis syndrome - down-regulated in mos-transformed cells - gremlin - - - gene with protein product - - - - Reactome - O60565 - - - ClinVar - GREM1 - - - Ensembl - ENSG00000166923 - - - Genatlas - GREM1 - - - HGNC - 2001 - - - OMIM - 603054 - - - SwissProt - O60565 - - - - - 15q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 157769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157769 - Situs ambiguus - - Morphological anomaly - - - Disorder - - - - 27616478[PMID] - - polycystin 1 like 1, transient receptor potential channel interacting - PKD1L1 - - polycystin-1L1 - PRO19563 - - - gene with protein product - - - - Genatlas - PKD1L1 - - - SwissProt - Q8TDX9 - - - Ensembl - ENSG00000158683 - - - ClinVar - PKD1L1 - - - HGNC - 18053 - - - OMIM - 609721 - - - - - 7p12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - Zic family member 3 - ZIC3 - - HTX - ZNF203 - - - gene with protein product - - - - ClinVar - ZIC3 - - - Ensembl - ENSG00000156925 - - - Genatlas - ZIC3 - - - HGNC - 12874 - - - OMIM - 300265 - - - Reactome - O60481 - - - SwissProt - O60481 - - - - - Xq26.3 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - activin A receptor type 2B - ACVR2B - - ActR-IIB - - - gene with protein product - - - - Ensembl - ENSG00000114739 - - - Genatlas - ACVR2B - - - HGNC - 174 - - - IUPHAR - 1792 - - - OMIM - 602730 - - - Reactome - Q13705 - - - SwissProt - Q13705 - - - ClinVar - ACVR2B - - - - - 3p22.2 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - left-right determination factor 2 - LEFTY2 - - LEFTA - LEFTYA - transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A) - - - gene with protein product - - - - OMIM - 601877 - - - Reactome - O00292 - - - SwissProt - O00292 - - - Ensembl - ENSG00000143768 - - - Genatlas - LEFTY2 - - - HGNC - 3122 - - - ClinVar - LEFTY2 - - - - - 1q42.12 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - 9354794[PMID] - - nodal growth differentiation factor - NODAL - - - - gene with protein product - - - - ClinVar - NODAL - - - Ensembl - ENSG00000156574 - - - Genatlas - NODAL - - - HGNC - 7865 - - - OMIM - 601265 - - - Reactome - Q96S42 - - - SwissProt - Q96S42 - - - - - 10q22.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 22577226[PMID] - - cilia and flagella associated protein 53 - CFAP53 - - FLJ32743 - - - gene with protein product - - - - Reactome - Q96M91 - - - Ensembl - ENSG00000172361 - - - Genatlas - CCDC11 - - - HGNC - 26530 - - - OMIM - 614759 - - - SwissProt - Q96M91 - - - ClinVar - CCDC11 - - - - - 18q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26437029[PMID] - - matrix metallopeptidase 21 - MMP21 - - - - gene with protein product - - - - ClinVar - MMP21 - - - HGNC - 14357 - - - IUPHAR - 1644 - - - OMIM - 608416 - - - SwissProt - Q8N119 - - - Ensembl - ENSG00000154485 - - - Genatlas - MMP21 - - - - - 10q26.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 19064609[PMID] - - nodal growth differentiation factor - NODAL - - - - gene with protein product - - - - ClinVar - NODAL - - - Ensembl - ENSG00000156574 - - - Genatlas - NODAL - - - HGNC - 7865 - - - OMIM - 601265 - - - Reactome - Q96S42 - - - SwissProt - Q96S42 - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34903892[PMID] - - ciliated left-right organizer metallopeptidase - CIROP - - - - gene with protein product - - - - Ensembl - ENSG00000283654 - - - SwissProt - A0A1B0GTW7 - - - HGNC - 53647 - - - OMIM - 619703 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30471718[PMID] - - dynein axonemal heavy chain 9 - DNAH9 - - Dnahc9 - KIAA0357 - HL20 - HL-20 - DNAL1 - DYH9 - - - gene with protein product - - - - HGNC - 2953 - - - Ensembl - ENSG00000007174 - - - SwissProt - Q9NYC9 - - - OMIM - 603330 - - - - - 17p12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 11062482[PMID] - - cryptic, EGF-CFC family member 1 - CFC1 - - CRYPTIC - - - gene with protein product - - - - ClinVar - CFC1 - - - Ensembl - ENSG00000136698 - - - Genatlas - CFC1 - - - HGNC - 18292 - - - OMIM - 605194 - - - Reactome - P0CG37 - - - SwissProt - P0CG37 - - - - - 2q21.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 157716 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157716 - Late infantile CACH syndrome - - Clinical subtype - - - Subtype of disorder - - - - 20301435[PMID] - - eukaryotic translation initiation factor 2B subunit alpha - EIF2B1 - - EIF2Balpha - EIF-2B - EIF-2Balpha - EIF2BA - - - gene with protein product - - - - ClinVar - EIF2B1 - - - Ensembl - ENSG00000111361 - - - Genatlas - EIF2B1 - - - HGNC - 3257 - - - OMIM - 606686 - - - Reactome - Q14232 - - - SwissProt - Q14232 - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301435[PMID] - - eukaryotic translation initiation factor 2B subunit beta - EIF2B2 - - EIF2Bbeta - EIF-2Bbeta - EIF2B - - - gene with protein product - - - - ClinVar - EIF2B2 - - - Ensembl - ENSG00000119718 - - - Genatlas - EIF2B2 - - - HGNC - 3258 - - - OMIM - 606454 - - - Reactome - P49770 - - - SwissProt - P49770 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301435[PMID] - - eukaryotic translation initiation factor 2B subunit gamma - EIF2B3 - - EIF-2B - EIF2Bgamma - - - gene with protein product - - - - ClinVar - EIF2B3 - - - SwissProt - Q9NR50 - - - Ensembl - ENSG00000070785 - - - Genatlas - EIF2B3 - - - HGNC - 3259 - - - OMIM - 606273 - - - Reactome - Q9NR50 - - - - - 1p34.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301435[PMID] - - eukaryotic translation initiation factor 2B subunit delta - EIF2B4 - - DKFZP586J0119 - EIF-2B - EIF2B - EIF2Bdelta - - - gene with protein product - - - - ClinVar - EIF2B4 - - - Ensembl - ENSG00000115211 - - - Genatlas - EIF2B4 - - - HGNC - 3260 - - - OMIM - 606687 - - - Reactome - Q9UI10 - - - SwissProt - Q9UI10 - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301435[PMID] - - eukaryotic translation initiation factor 2B subunit epsilon - EIF2B5 - - EIF-2B - EIF2Bepsilon - - - gene with protein product - - - - ClinVar - EIF2B5 - - - Ensembl - ENSG00000145191 - - - Genatlas - EIF2B5 - - - HGNC - 3261 - - - OMIM - 603945 - - - Reactome - Q13144 - - - SwissProt - Q13144 - - - - - 3q27.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 157719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157719 - Juvenile or adult CACH syndrome - - Clinical subtype - - - Subtype of disorder - - - - 20301435[PMID] - - eukaryotic translation initiation factor 2B subunit alpha - EIF2B1 - - EIF2Balpha - EIF-2B - EIF-2Balpha - EIF2BA - - - gene with protein product - - - - ClinVar - EIF2B1 - - - Ensembl - ENSG00000111361 - - - Genatlas - EIF2B1 - - - HGNC - 3257 - - - OMIM - 606686 - - - Reactome - Q14232 - - - SwissProt - Q14232 - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301435[PMID] - - eukaryotic translation initiation factor 2B subunit beta - EIF2B2 - - EIF2Bbeta - EIF-2Bbeta - EIF2B - - - gene with protein product - - - - ClinVar - EIF2B2 - - - Ensembl - ENSG00000119718 - - - Genatlas - EIF2B2 - - - HGNC - 3258 - - - OMIM - 606454 - - - Reactome - P49770 - - - SwissProt - P49770 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301435[PMID] - - eukaryotic translation initiation factor 2B subunit gamma - EIF2B3 - - EIF-2B - EIF2Bgamma - - - gene with protein product - - - - ClinVar - EIF2B3 - - - SwissProt - Q9NR50 - - - Ensembl - ENSG00000070785 - - - Genatlas - EIF2B3 - - - HGNC - 3259 - - - OMIM - 606273 - - - Reactome - Q9NR50 - - - - - 1p34.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301435[PMID] - - eukaryotic translation initiation factor 2B subunit delta - EIF2B4 - - DKFZP586J0119 - EIF-2B - EIF2B - EIF2Bdelta - - - gene with protein product - - - - ClinVar - EIF2B4 - - - Ensembl - ENSG00000115211 - - - Genatlas - EIF2B4 - - - HGNC - 3260 - - - OMIM - 606687 - - - Reactome - Q9UI10 - - - SwissProt - Q9UI10 - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301435[PMID] - - eukaryotic translation initiation factor 2B subunit epsilon - EIF2B5 - - EIF-2B - EIF2Bepsilon - - - gene with protein product - - - - ClinVar - EIF2B5 - - - Ensembl - ENSG00000145191 - - - Genatlas - EIF2B5 - - - HGNC - 3261 - - - OMIM - 603945 - - - Reactome - Q13144 - - - SwissProt - Q13144 - - - - - 3q27.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 157713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157713 - Congenital or early infantile CACH syndrome - - Clinical subtype - - - Subtype of disorder - - - - 20301435[PMID] - - eukaryotic translation initiation factor 2B subunit alpha - EIF2B1 - - EIF2Balpha - EIF-2B - EIF-2Balpha - EIF2BA - - - gene with protein product - - - - ClinVar - EIF2B1 - - - Ensembl - ENSG00000111361 - - - Genatlas - EIF2B1 - - - HGNC - 3257 - - - OMIM - 606686 - - - Reactome - Q14232 - - - SwissProt - Q14232 - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301435[PMID] - - eukaryotic translation initiation factor 2B subunit beta - EIF2B2 - - EIF2Bbeta - EIF-2Bbeta - EIF2B - - - gene with protein product - - - - ClinVar - EIF2B2 - - - Ensembl - ENSG00000119718 - - - Genatlas - EIF2B2 - - - HGNC - 3258 - - - OMIM - 606454 - - - Reactome - P49770 - - - SwissProt - P49770 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301435[PMID] - - eukaryotic translation initiation factor 2B subunit gamma - EIF2B3 - - EIF-2B - EIF2Bgamma - - - gene with protein product - - - - ClinVar - EIF2B3 - - - SwissProt - Q9NR50 - - - Ensembl - ENSG00000070785 - - - Genatlas - EIF2B3 - - - HGNC - 3259 - - - OMIM - 606273 - - - Reactome - Q9NR50 - - - - - 1p34.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301435[PMID] - - eukaryotic translation initiation factor 2B subunit delta - EIF2B4 - - DKFZP586J0119 - EIF-2B - EIF2B - EIF2Bdelta - - - gene with protein product - - - - ClinVar - EIF2B4 - - - Ensembl - ENSG00000115211 - - - Genatlas - EIF2B4 - - - HGNC - 3260 - - - OMIM - 606687 - - - Reactome - Q9UI10 - - - SwissProt - Q9UI10 - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301435[PMID] - - eukaryotic translation initiation factor 2B subunit epsilon - EIF2B5 - - EIF-2B - EIF2Bepsilon - - - gene with protein product - - - - ClinVar - EIF2B5 - - - Ensembl - ENSG00000145191 - - - Genatlas - EIF2B5 - - - HGNC - 3261 - - - OMIM - 603945 - - - Reactome - Q13144 - - - SwissProt - Q13144 - - - - - 3q27.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1377 - Cataract-microcornea syndrome - - Malformation syndrome - - - Disorder - - - - 21686328[PMID]_21612679[PMID]_17724170[PMID] - - crystallin alpha A - CRYAA - - HSPB4 - - - gene with protein product - - - - ClinVar - CRYAA - - - Ensembl - ENSG00000160202 - - - Genatlas - CRYAA - - - HGNC - 2388 - - - OMIM - 123580 - - - SwissProt - P02489 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20577656[PMID] - - crystallin beta A4 - CRYBA4 - - - - gene with protein product - - - - ClinVar - CRYBA4 - - - Reactome - P53673 - - - Ensembl - ENSG00000196431 - - - Genatlas - CRYBA4 - - - HGNC - 2396 - - - OMIM - 123631 - - - SwissProt - P53673 - - - - - 22q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21402992[PMID] - - crystallin beta B2 - CRYBB2 - - - - gene with protein product - - - - ClinVar - CRYBB2 - - - Ensembl - ENSG00000244752 - - - Genatlas - CRYBB2 - - - HGNC - 2398 - - - OMIM - 123620 - - - SwissProt - P43320 - - - - - 22q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22876111[PMID]_19204787[PMID] - - crystallin gamma C - CRYGC - - - - gene with protein product - - - - ClinVar - CRYGC - - - Ensembl - ENSG00000163254 - - - Genatlas - CRYGC - - - HGNC - 2410 - - - OMIM - 123680 - - - SwissProt - P07315 - - - - - 2q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17724170[PMID] - - crystallin gamma D - CRYGD - - - - gene with protein product - - - - ClinVar - CRYGD - - - Ensembl - ENSG00000118231 - - - Genatlas - CRYGD - - - HGNC - 2411 - - - OMIM - 123690 - - - SwissProt - P07320 - - - - - 2q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20806042[PMID]_17724170[PMID] - - gap junction protein alpha 8 - GJA8 - - CX50 - connexin 50 - - - gene with protein product - - - - ClinVar - GJA8 - - - Ensembl - ENSG00000121634 - - - Genatlas - GJA8 - - - HGNC - 4281 - - - OMIM - 600897 - - - Reactome - P48165 - - - SwissProt - P48165 - - - IUPHAR - 732 - - - - - 1q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16110300[PMID]_21972112[PMID] - - crystallin beta B1 - CRYBB1 - - - - gene with protein product - - - - Reactome - P53674 - - - Ensembl - ENSG00000100122 - - - Genatlas - CRYBB1 - - - HGNC - 2397 - - - OMIM - 600929 - - - SwissProt - P53674 - - - ClinVar - CRYBB1 - - - - - 22q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17982426[PMID] - - MAF bZIP transcription factor - MAF - - c-MAF - - - gene with protein product - - - - ClinVar - MAF - - - Ensembl - ENSG00000178573 - - - Genatlas - MAF - - - HGNC - 6776 - - - OMIM - 177075 - - - SwissProt - O75444 - - - - - 16q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 157215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157215 - Hereditary hypophosphatemic rickets with hypercalciuria - - Disease - - - Disorder - - - - 16358215[PMID] - - solute carrier family 34 member 3 - SLC34A3 - - NPT2C - FLJ38680 - NPTIIc - Sodium-dependent phosphate transport protein 2C - NaPi-2c - - - gene with protein product - - - - SwissProt - Q8N130 - - - Ensembl - ENSG00000198569 - - - Genatlas - SLC34A3 - - - HGNC - 20305 - - - OMIM - 609826 - - - Reactome - Q8N130 - - - ClinVar - SLC34A3 - - - IUPHAR - 1137 - - - - - 9q34.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 32311027[PMID] - - solute carrier family 34 member 1 - SLC34A1 - - NAPI-3 - NPTIIa - Na+-phosphate cotransporter type II - SLC11 - sodium/phosphate co-transporter - solute carrier family 17 (sodium phosphate), member 2 - - - gene with protein product - - - - IUPHAR - 1135 - - - Ensembl - ENSG00000131183 - - - Genatlas - SLC34A1 - - - HGNC - 11019 - - - OMIM - 182309 - - - Reactome - Q06495 - - - SwissProt - Q06495 - - - ClinVar - SLC34A1 - - - - - 5q35.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1328 - Camurati-Engelmann disease - - Malformation syndrome - - - Disorder - - - - 20301335[PMID] - - transforming growth factor beta 1 - TGFB1 - - CED - Camurati-Engelmann disease - TGFbeta - prepro-transforming growth factor beta-1 - Diaphyseal dysplasia 1, progressive - - - gene with protein product - - - - ClinVar - TGFB1 - - - Ensembl - ENSG00000105329 - - - Genatlas - TGFB1 - - - HGNC - 11766 - - - OMIM - 190180 - - - Reactome - P01137 - - - SwissProt - P01137 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1338 - Heart defect-tongue hamartoma-polysyndactyly syndrome - - Malformation syndrome - - - Disorder - - - - 25427950[PMID] - - WD repeat containing planar cell polarity effector - WDPCP - - BBS15 - fritz - hFrtz - CPLANE5 - ciliogenesis and planar polarity effector complex subunit 5 - - - gene with protein product - - - - Ensembl - ENSG00000143951 - - - Genatlas - WDPCP - - - HGNC - 28027 - - - OMIM - 613580 - - - SwissProt - O95876 - - - ClinVar - WDPCP - - - - - 2p15 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340 - Cardiofaciocutaneous syndrome - - Malformation syndrome - - - Disorder - - - - 20301365[PMID]_16825433[PMID] - - B-Raf proto-oncogene, serine/threonine kinase - BRAF - - BRAF1 - BRAF-1 - - - gene with protein product - - - - Ensembl - ENSG00000157764 - - - Genatlas - BRAF - - - HGNC - 1097 - - - IUPHAR - 1943 - - - OMIM - 164757 - - - Reactome - P15056 - - - SwissProt - P15056 - - - ClinVar - BRAF - - - - - 7q34 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 20301365[PMID]_16825433[PMID] - - KRAS proto-oncogene, GTPase - KRAS - - KRAS1 - K-Ras4B - - - gene with protein product - - - - IUPHAR - 2824 - - - ClinVar - KRAS - - - Ensembl - ENSG00000133703 - - - Genatlas - KRAS - - - HGNC - 6407 - - - OMIM - 190070 - - - Reactome - P01116 - - - SwissProt - P01116 - - - - - 12p12.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 20301365[PMID]_16825433[PMID] - - mitogen-activated protein kinase kinase 1 - MAP2K1 - - MAPKK1 - MEK1 - MKK1 - dual specificity mitogen-activated protein kinase kinase 1 - MAP kinase kinase 1 - MAPK/ERK kinase 1 - - - gene with protein product - - - - Ensembl - ENSG00000169032 - - - Genatlas - MAP2K1 - - - HGNC - 6840 - - - IUPHAR - 2062 - - - OMIM - 176872 - - - Reactome - Q02750 - - - SwissProt - Q02750 - - - ClinVar - MAP2K1 - - - - - 15q22.31 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 20301365[PMID]_16825433[PMID] - - mitogen-activated protein kinase kinase 2 - MAP2K2 - - MKK2 - MAP kinase kinase 2 - MEK2 - - - gene with protein product - - - - OMIM - 601263 - - - Reactome - P36507 - - - SwissProt - P36507 - - - Ensembl - ENSG00000126934 - - - Genatlas - MAP2K2 - - - HGNC - 6842 - - - IUPHAR - 2063 - - - ClinVar - MAP2K2 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 2856 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856 - Persistent Müllerian duct syndrome - - Malformation syndrome - - - Disorder - - - - 23295284[PMID] - - anti-Mullerian hormone - AMH - - MIS - Muellerian-inhibiting factor - Muellerian-inhibiting substance - MIF - - - gene with protein product - - - - ClinVar - AMH - - - SwissProt - P03971 - - - Ensembl - ENSG00000104899 - - - Genatlas - AMH - - - HGNC - 464 - - - OMIM - 600957 - - - Reactome - P03971 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23295284[PMID] - - anti-Mullerian hormone receptor type 2 - AMHR2 - - MISR2 - MISRII - Muellerian inhibiting substance type II receptor - - - gene with protein product - - - - Ensembl - ENSG00000135409 - - - Genatlas - AMHR2 - - - HGNC - 465 - - - IUPHAR - 1793 - - - OMIM - 600956 - - - SwissProt - Q16671 - - - ClinVar - AMHR2 - - - Reactome - Q16671 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1766 - Dysequilibrium syndrome - - Disease - - - Disorder - - - - 21885617[PMID] - - very low density lipoprotein receptor - VLDLR - - CARMQ1 - CHRMQ1 - VLDLRCH - - - gene with protein product - - - - ClinVar - VLDLR - - - Reactome - P98155 - - - HGNC - 12698 - - - OMIM - 192977 - - - SwissProt - P98155 - - - Ensembl - ENSG00000147852 - - - Genatlas - VLDLR - - - - - 9p24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21885617[PMID] - - WD repeat domain 81 - WDR81 - - CAMRQ2 - FLJ33817 - PPP1R166 - SORF-2 - protein phosphatase 1, regulatory subunit 166 - - - gene with protein product - - - - Ensembl - ENSG00000167716 - - - Genatlas - WDR81 - - - HGNC - 26600 - - - OMIM - 614218 - - - SwissProt - Q562E7 - - - ClinVar - WDR81 - - - - - 17p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21812104[PMID] - - carbonic anhydrase 8 - CA8 - - CA-RP - CARP - CA-VIII - - - gene with protein product - - - - Ensembl - ENSG00000178538 - - - Genatlas - CA8 - - - HGNC - 1382 - - - OMIM - 114815 - - - SwissProt - P35219 - - - Reactome - P35219 - - - ClinVar - CA8 - - - - - 8q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22892528[PMID] - - ATPase phospholipid transporting 8A2 - ATP8A2 - - ATPIB - ML-1 - - - gene with protein product - - - - OMIM - 605870 - - - Reactome - Q9NTI2 - - - SwissProt - Q9NTI2 - - - Ensembl - ENSG00000132932 - - - Genatlas - ATP8A2 - - - HGNC - 13533 - - - ClinVar - ATP8A2 - - - IUPHAR - 855 - - - - - 13q12.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28013290[PMID] - - tubulin beta 2B class IIb - TUBB2B - - DKFZp566F223 - MGC8685 - bA506K6.1 - class IIb beta-tubulin - - - gene with protein product - - - - Ensembl - ENSG00000137285 - - - Genatlas - TUBB2B - - - HGNC - 30829 - - - OMIM - 612850 - - - Reactome - Q9BVA1 - - - SwissProt - Q9BVA1 - - - ClinVar - TUBB2B - - - - - 6p25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1777 - Temtamy syndrome - - Malformation syndrome - - - Disorder - - - - 23453665[PMID]_23453666[PMID] - - chromosome 12 open reading frame 57 - C12ORF57 - - gene rich cluster C10 gene - C10 - GRCC10 - - - gene with protein product - - - - ClinVar - C12orf57 - - - Ensembl - ENSG00000111678 - - - Genatlas - C12orf57 - - - HGNC - 29521 - - - OMIM - 615140 - - - SwissProt - Q99622 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1772 - 45,X/46,XY mixed gonadal dysgenesis - - Malformation syndrome - - - Disorder - - - - 20699606[PMID] - - sex determining region Y - SRY - - TDF - testis-determining factor - - - gene with protein product - - - - Ensembl - ENSG00000184895 - - - Genatlas - SRY - - - HGNC - 11311 - - - OMIM - 480000 - - - Reactome - Q05066 - - - SwissProt - Q05066 - - - ClinVar - SRY - - - - - Yp11.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 1782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1782 - Dysosteosclerosis - - Malformation syndrome - - - Disorder - - - - 29568001[PMID]_31163101[PMID] - - TNF receptor superfamily member 11a - TNFRSF11A - - CD265 - FEO - RANK - osteoclast differentiation factor receptor - ODFR - receptor activator of nuclear factor kappa B - TRANCE-R - TRANCE receptor - familial expansile osteolysis - - - gene with protein product - - - - IUPHAR - 1881 - - - Ensembl - ENSG00000141655 - - - Genatlas - TNFRSF11A - - - HGNC - 11908 - - - OMIM - 603499 - - - Reactome - Q9Y6Q6 - - - SwissProt - Q9Y6Q6 - - - ClinVar - TNFRSF11A - - - - - 18q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30537558[PMID] - - T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 - TCIRG1 - - ATP6N1C - ATP6V0A3 - Atp6i - OC-116 - OC116 - T-cell immune response cDNA 7 - TIRC7 - a3 - V-ATPase subunit a3 - - - gene with protein product - - - - Ensembl - ENSG00000110719 - - - Genatlas - TCIRG1 - - - HGNC - 11647 - - - OMIM - 604592 - - - Reactome - Q13488 - - - SwissProt - Q13488 - - - ClinVar - TCIRG1 - - - IUPHAR - 825 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - solute carrier family 29 member 3 - SLC29A3 - - hENT3 - ENT3 - FLJ11160 - - - gene with protein product - - - - Ensembl - ENSG00000198246 - - - Genatlas - SLC29A3 - - - HGNC - 23096 - - - OMIM - 612373 - - - Reactome - Q9BZD2 - - - SwissProt - Q9BZD2 - - - IUPHAR - 1119 - - - ClinVar - SLC29A3 - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Not yet assessed - - - - - - 1788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1788 - Acrofacial dysostosis, Rodríguez type - - Malformation syndrome - - - Disorder - - - - 27642715[PMID] - - splicing factor 3b subunit 4 - SF3B4 - - Hsh49 - SAP49 - SF3b49 - - - gene with protein product - - - - ClinVar - SF3B4 - - - Ensembl - ENSG00000143368 - - - Genatlas - SF3B4 - - - HGNC - 10771 - - - OMIM - 605593 - - - Reactome - Q15427 - - - SwissProt - Q15427 - - - - - 1q21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 859 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=859 - Transcobalamin deficiency - - Disease - - - Disorder - - - - 20607612[PMID] - - transcobalamin 2 - TCN2 - - D22S676 - D22S750 - TC2 - macrocytic anemia - - - gene with protein product - - - - OMIM - 613441 - - - Reactome - P20062 - - - SwissProt - P20062 - - - Ensembl - ENSG00000185339 - - - Genatlas - TCN2 - - - HGNC - 11653 - - - ClinVar - TCN2 - - - - - 22q12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 139441 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139441 - Hypomyelination with atrophy of basal ganglia and cerebellum - - Disease - - - Disorder - - - - 23582646[PMID] - - tubulin beta 4A class IVa - TUBB4A - - beta-5 - class IVa beta-tubulin - - - gene with protein product - - - - Ensembl - ENSG00000104833 - - - Genatlas - TUBB4A - - - HGNC - 20774 - - - OMIM - 602662 - - - Reactome - P04350 - - - SwissProt - P04350 - - - ClinVar - TUBB4A - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28931644[PMID] - - ubiquitin fold modifier 1 - UFM1 - - bA131P10.1 - - - gene with protein product - - - - Ensembl - ENSG00000120686 - - - SwissProt - P61960 - - - ClinVar - UFM1 - - - HGNC - 20597 - - - OMIM - 610553 - - - Genatlas - UFM1 - - - - - 13q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 139447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139447 - Progressive cavitating leukoencephalopathy - - Disease - - - Disorder - - - - 33811136[PMID] - - NADH:ubiquinone oxidoreductase core subunit V2 - NDUFV2 - - CI-24k - NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial - complex I 24kDa subunit - - - gene with protein product - - - - Ensembl - ENSG00000178127 - - - Genatlas - NDUFV2 - - - HGNC - 7717 - - - OMIM - 600532 - - - Reactome - P19404 - - - SwissProt - P19404 - - - ClinVar - NDUFV2 - - - - - 18p11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1573 - Hypotrichosis with juvenile macular degeneration - - Malformation syndrome - - - Disorder - - - - 11544476[PMID]_12445216[PMID]_22140374[PMID] - - cadherin 3 - CDH3 - - P-cadherin - CDHP - PCAD - - - gene with protein product - - - - OMIM - 114021 - - - Reactome - P22223 - - - SwissProt - P22223 - - - Ensembl - ENSG00000062038 - - - Genatlas - CDH3 - - - HGNC - 1762 - - - ClinVar - CDH3 - - - - - 16q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 726 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=726 - Alpers-Huttenlocher syndrome - - Disease - - - Disorder - - - - 22237560[PMID]_22000311[PMID]_23545419[PMID] - - DNA polymerase gamma, catalytic subunit - POLG - - POLG1 - POLGA - - - gene with protein product - - - - Ensembl - ENSG00000140521 - - - Genatlas - POLG - - - HGNC - 9179 - - - OMIM - 174763 - - - SwissProt - P54098 - - - Reactome - P54098 - - - ClinVar - POLG - - - - - 15q26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 139455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139455 - Autosomal recessive bestrophinopathy - - Disease - - - Disorder - - - - 18179881[PMID] - - bestrophin 1 - BEST1 - - BEST - BMD - Best disease - RP50 - - - gene with protein product - - - - ClinVar - BEST1 - - - Ensembl - ENSG00000167995 - - - Genatlas - BEST1 - - - HGNC - 12703 - - - OMIM - 607854 - - - Reactome - O76090 - - - SwissProt - O76090 - - - - - 11q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 139466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139466 - SERKAL syndrome - - Malformation syndrome - - - Disorder - - - - 18179883[PMID] - - Wnt family member 4 - WNT4 - - WNT-4 - - - gene with protein product - - - - ClinVar - WNT4 - - - Ensembl - ENSG00000162552 - - - Genatlas - WNT4 - - - HGNC - 12783 - - - OMIM - 603490 - - - Reactome - P56705 - - - SwissProt - P56705 - - - - - 1p36.12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 1596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1596 - Distal deletion 15q syndrome - - Malformation syndrome - - - Disorder - - - - 23773997[PMID] - - multiple C2 and transmembrane domain containing 2 - MCTP2 - - FLJ11175 - FLJ33303 - - - gene with protein product - - - - Ensembl - ENSG00000140563 - - - Genatlas - MCTP2 - - - HGNC - 25636 - - - OMIM - 616297 - - - SwissProt - Q6DN12 - - - ClinVar - MCTP2 - - - - - 15q26.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 139471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139471 - Microphthalmia with brain and digit anomalies - - Malformation syndrome - - - Disorder - - - - 18252212[PMID] - - bone morphogenetic protein 4 - BMP4 - - - - gene with protein product - - - - Ensembl - ENSG00000125378 - - - Genatlas - BMP4 - - - HGNC - 1071 - - - OMIM - 112262 - - - Reactome - P12644 - - - SwissProt - P12644 - - - ClinVar - BMP4 - - - - - 14q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 139474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139474 - 17q11.2 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - 22241097[PMID] - - neurofibromin 1 - NF1 - - Watson disease - neurofibromatosis - von Recklinghausen disease - - - gene with protein product - - - - Ensembl - ENSG00000196712 - - - Genatlas - NF1 - - - HGNC - 7765 - - - OMIM - 613113 - - - ClinVar - NF1 - - - Reactome - P21359 - - - SwissProt - P21359 - - - - - 17q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 1617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1617 - Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion - - Etiological subtype - - - Subtype of disorder - - - - 32366965[PMID] - - nuclear receptor subfamily 4 group A member 2 - NR4A2 - - TINUR - NOT - RNR1 - HZF-3 - - - gene with protein product - - - - HGNC - 7981 - - - Ensembl - ENSG00000153234 - - - SwissProt - P43354 - - - Reactome - P43354 - - - IUPHAR - 630 - - - OMIM - 601828 - - - - - 2q24.1 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 24458984[PMID] - - T-box brain transcription factor 1 - TBR1 - - - - gene with protein product - - - - Genatlas - TBR1 - - - SwissProt - Q16650 - - - OMIM - 604616 - - - HGNC - 11590 - - - Ensembl - ENSG00000136535 - - - ClinVar - TBR1 - - - - - 2q24.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 1606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1606 - 1p36 deletion syndrome - - Malformation syndrome - - - Disorder - - - - 27087320[PMID] - - arginine-glutamic acid dipeptide repeats - RERE - - ARG - atrophin 2 - ATN2 - ARP - DNB1 - KIAA0458 - - - gene with protein product - - - - Reactome - Q9P2R6 - - - HGNC - 9965 - - - OMIM - 605226 - - - ClinVar - RERE - - - Genatlas - RERE - - - SwissProt - Q9P2R6 - - - Ensembl - ENSG00000142599 - - - - - 1p36.23 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 24454898[PMID] - - protein kinase C zeta - PRKCZ - - PKC2 - - - gene with protein product - - - - SwissProt - Q05513 - - - HGNC - 9412 - - - OMIM - 176982 - - - IUPHAR - 1491 - - - Ensembl - ENSG00000067606 - - - - - 1p36.33 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 24454898[PMID] - - ubiquitination factor E4B - UBE4B - - E4 - UBOX3 - KIAA0684 - UFD2 - - - gene with protein product - - - - SwissProt - O95155 - - - HGNC - 12500 - - - Ensembl - ENSG00000130939 - - - OMIM - 613565 - - - - - 1p36.22 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 26345236[PMID] - - matrix metallopeptidase 23B - MMP23B - - matrix metalloproteinase in the female reproductive tract - MIFR-1 - femalysin - MIFR - matrix metalloproteinase 22 - - - gene with protein product - - - - SwissProt - O75900 - - - HGNC - 7171 - - - Ensembl - ENSG00000189409 - - - OMIM - 603321 - - - IUPHAR - 1645 - - - - - 1p36.33 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 22766398[PMID] - - gamma-aminobutyric acid type A receptor subunit delta - GABRD - - GABAARdelta - GABA(A) receptor, delta - - - gene with protein product - - - - ClinVar - GABRD - - - Ensembl - ENSG00000187730 - - - Genatlas - GABRD - - - HGNC - 4084 - - - IUPHAR - 416 - - - OMIM - 137163 - - - SwissProt - O14764 - - - - - 1p36.33 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 22766398[PMID]_12376748[PMID] - - SKI proto-oncogene - SKI - - Sloan-Kettering Institute proto-oncogene - - - gene with protein product - - - - Ensembl - ENSG00000157933 - - - Genatlas - SKI - - - HGNC - 10896 - - - OMIM - 164780 - - - Reactome - P12755 - - - SwissProt - P12755 - - - ClinVar - SKI - - - - - 1p36.33-p36.32 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 22766398[PMID]_17633087[PMID] - - potassium voltage-gated channel subfamily A regulatory beta subunit 2 - KCNAB2 - - HKvbeta2.2 - KCNA2B - AKR6A5 - HKvbeta2.1 - - - gene with protein product - - - - Ensembl - ENSG00000069424 - - - Genatlas - KCNAB2 - - - HGNC - 6229 - - - OMIM - 601142 - - - Reactome - Q13303 - - - SwissProt - Q13303 - - - ClinVar - KCNAB2 - - - - - 1p36.31 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 23768516[PMID] - - PR/SET domain 16 - PRDM16 - - KIAA1675 - MDS1/EVI1-like - MEL1 - MGC166915 - PFM13 - PR-domain zinc finger protein 16 - Transcription factor MEL1 - KMT8F - transcription factor MEL1 - - - gene with protein product - - - - Ensembl - ENSG00000142611 - - - Genatlas - PRDM16 - - - HGNC - 14000 - - - OMIM - 605557 - - - Reactome - Q9HAZ2 - - - SwissProt - Q9HAZ2 - - - ClinVar - PRDM16 - - - - - 1p36.32 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 24454898[PMID] - - castor zinc finger 1 - CASZ1 - - castor - ZNF693 - SRG - FLJ20321 - cst - zinc finger protein 693 - survival related gene - - - gene with protein product - - - - HGNC - 26002 - - - OMIM - 609895 - - - SwissProt - Q86V15 - - - Ensembl - ENSG00000130940 - - - - - 1p36.22 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 26345236[PMID] - - spen family transcriptional repressor - SPEN - - KIAA0929 - MINT - SHARP - RBM15C - - - gene with protein product - - - - SwissProt - Q96T58 - - - OMIM - 613484 - - - Ensembl - ENSG00000065526 - - - HGNC - 17575 - - - ClinVar - SPEN - - - Genatlas - SPEN - - - - - 1p36.21-p36.13 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 26345236[PMID] - - podoplanin - PDPN - - T1A-2 - PA2.26 - aggrus - Gp38 - D2-40 - lung type I cell membrane associated glycoprotein - GP40 - - - gene with protein product - - - - SwissProt - Q86YL7 - - - HGNC - 29602 - - - Ensembl - ENSG00000162493 - - - OMIM - 608863 - - - - - 1p36.21 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 26345236[PMID] - - leucine zipper protein 1 - LUZP1 - - LUZP - - - gene with protein product - - - - SwissProt - Q86V48 - - - HGNC - 14985 - - - Ensembl - ENSG00000169641 - - - OMIM - 601422 - - - - - 1p36.12 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 26345236[PMID] - - heparan sulfate proteoglycan 2 - HSPG2 - - PRCAN - perlecan - perlecan proteoglycan - endorepellin - - - gene with protein product - - - - ClinVar - HSPG2 - - - Ensembl - ENSG00000142798 - - - Genatlas - HSPG2 - - - HGNC - 5273 - - - OMIM - 142461 - - - Reactome - P98160 - - - SwissProt - P98160 - - - - - 1p36.12 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 139480 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139480 - Autosomal recessive spastic paraplegia type 39 - - Disease - - - Disorder - - - - 18313024[PMID] - - patatin like domain 6, lysophospholipase - PNPLA6 - - NTE - SPG39 - SWS - iPLA2delta - neuropathy target esterase - sws - - - gene with protein product - - - - ClinVar - PNPLA6 - - - Reactome - Q8IY17 - - - Genatlas - PNPLA6 - - - HGNC - 16268 - - - OMIM - 603197 - - - SwissProt - Q8IY17 - - - Ensembl - ENSG00000032444 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 139485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139485 - Autosomal recessive ataxia due to ubiquinone deficiency - - Disease - - - Disorder - - - - 20301317[PMID] - - coenzyme Q8A - COQ8A - - COQ8 - SCAR9 - coenzyme Q8 homolog (yeast) - - - gene with protein product - - - - Genatlas - ADCK3 - - - HGNC - 16812 - - - IUPHAR - 1927 - - - OMIM - 606980 - - - SwissProt - Q8NI60 - - - Ensembl - ENSG00000163050 - - - Reactome - Q8NI60 - - - ClinVar - ADCK3 - - - - - 1q42.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 139515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139515 - Charcot-Marie-Tooth disease type 4J - - Disease - - - Disorder - - - - 24228289[PMID]_20301641[PMID] - - FIG4 phosphoinositide 5-phosphatase - FIG4 - - ALS11 - CMT4J - SAC3 - dJ249I4.1 - hSac3 - - - gene with protein product - - - - ClinVar - FIG4 - - - Ensembl - ENSG00000112367 - - - Genatlas - FIG4 - - - HGNC - 16873 - - - OMIM - 609390 - - - Reactome - Q92562 - - - SwissProt - Q92562 - - - - - 6q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 139512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139512 - Neuropathy with hearing impairment - - Disease - - - Disorder - - - - 11309368[PMID] - - gap junction protein beta 3 - GJB3 - - CX31 - connexin 31 - - - gene with protein product - - - - HGNC - 4285 - - - OMIM - 603324 - - - Reactome - O75712 - - - SwissProt - O75712 - - - ClinVar - GJB3 - - - Ensembl - ENSG00000188910 - - - Genatlas - GJB3 - - - IUPHAR - 720 - - - - - 1p34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 139525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139525 - Distal hereditary motor neuropathy type 2 - - Disease - - - Disorder - - - - 15122254[PMID] - - heat shock protein family B (small) member 1 - HSPB1 - - CMT2F - HSP27 - HSP28 - Hs.76067 - Hsp25 - - - gene with protein product - - - - ClinVar - HSPB1 - - - Ensembl - ENSG00000106211 - - - Genatlas - HSPB1 - - - HGNC - 5246 - - - OMIM - 602195 - - - Reactome - P04792 - - - SwissProt - P04792 - - - - - 7q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15122253[PMID] - - heat shock protein family B (small) member 8 - HSPB8 - - CMT2L - E2IG1 - H11 - HSP22 - HspB8 - - - gene with protein product - - - - ClinVar - HSPB8 - - - Ensembl - ENSG00000152137 - - - Genatlas - HSPB8 - - - HGNC - 30171 - - - OMIM - 608014 - - - Reactome - Q9UJY1 - - - SwissProt - Q9UJY1 - - - - - 12q24.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20142617[PMID] - - heat shock protein family B (small) member 3 - HSPB3 - - HSPL27 - - - gene with protein product - - - - Ensembl - ENSG00000169271 - - - Genatlas - HSPB3 - - - HGNC - 5248 - - - OMIM - 604624 - - - SwissProt - Q12988 - - - ClinVar - HSPB3 - - - - - 5q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24207122[PMID] - - F-box protein 38 - FBXO38 - - FLJ13962 - Fbx38 - MOKA - SP329 - - - gene with protein product - - - - Reactome - Q6PIJ6 - - - Ensembl - ENSG00000145868 - - - Genatlas - FBXO38 - - - HGNC - 28844 - - - OMIM - 608533 - - - SwissProt - Q6PIJ6 - - - ClinVar - FBXO38 - - - - - 5q32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1658 - Absence of fingerprints-congenital milia syndrome - - Disease - - - Disorder - - - - 26932190[PMID] - - SNF2 related chromatin remodeling ATPase with DExD box 1 - SMARCAD1 - - DKFZP762K2015 - DKFZp762K2015 - ETL1 - KIAA1122 - - - gene with protein product - - - - ClinVar - SMARCAD1 - - - Ensembl - ENSG00000163104 - - - Genatlas - SMARCAD1 - - - HGNC - 18398 - - - OMIM - 612761 - - - SwissProt - Q9H4L7 - - - - - 4q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 139536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139536 - Distal hereditary motor neuropathy type 5 - - Disease - - - Disorder - - - - 22703882[PMID] - - receptor accessory protein 1 - REEP1 - - FLJ13110 - SPG31 - Yip2a - receptor expression enhancing protein 1 - - - gene with protein product - - - - ClinVar - REEP1 - - - Ensembl - ENSG00000068615 - - - Genatlas - REEP1 - - - HGNC - 25786 - - - OMIM - 609139 - - - SwissProt - Q9H902 - - - Reactome - Q9H902 - - - - - 2p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 14981520[PMID] - - BSCL2 lipid droplet biogenesis associated, seipin - BSCL2 - - seipin - - - gene with protein product - - - - Ensembl - ENSG00000168000 - - - Genatlas - BSCL2 - - - HGNC - 15832 - - - OMIM - 606158 - - - SwissProt - Q96G97 - - - ClinVar - BSCL2 - - - - - 11q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301420[PMID]_12690580[PMID] - - glycyl-tRNA synthetase 1 - GARS1 - - DSMAV - GlyRS - SMAD1 - glycine tRNA ligase - - - gene with protein product - - - - ClinVar - GARS - - - Ensembl - ENSG00000106105 - - - Genatlas - GARS - - - HGNC - 4162 - - - OMIM - 600287 - - - Reactome - P41250 - - - SwissProt - P41250 - - - - - 7p14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 139557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139557 - X-linked distal spinal muscular atrophy type 3 - - Disease - - - Disorder - - - - 20170900[PMID] - - ATPase copper transporting alpha - ATP7A - - copper pump 1 - copper-transporting ATPase 1 - - - gene with protein product - - - - IUPHAR - 852 - - - Ensembl - ENSG00000165240 - - - Genatlas - ATP7A - - - HGNC - 869 - - - OMIM - 300011 - - - Reactome - Q04656 - - - SwissProt - Q04656 - - - ClinVar - ATP7A - - - - - Xq21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1662 - Restrictive dermopathy - - Disease - - - Disorder - - - - 18470519[PMID]_19020898[PMID] - - zinc metallopeptidase STE24 - ZMPSTE24 - - CAAX prenyl protease 1 homolog - FACE-1 - HGPS - Hutchinson-Gilford progeria syndrome - PRO1 - STE24 - Ste24p - - - gene with protein product - - - - ClinVar - ZMPSTE24 - - - Ensembl - ENSG00000084073 - - - Genatlas - ZMPSTE24 - - - HGNC - 12877 - - - OMIM - 606480 - - - SwissProt - O75844 - - - Reactome - O75844 - - - - - 1p34.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18470519[PMID]_19020898[PMID] - - lamin A/C - LMNA - - HGPS - MADA - mandibuloacral dysplasia type A - progerin - - - gene with protein product - - - - ClinVar - LMNA - - - Ensembl - ENSG00000160789 - - - Genatlas - LMNA - - - HGNC - 6636 - - - OMIM - 150330 - - - Reactome - P02545 - - - SwissProt - P02545 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 139552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139552 - Distal hereditary motor neuropathy, Jerash type - - Disease - - - Disorder - - - - 26078401[PMID] - - sigma non-opioid intracellular receptor 1 - SIGMAR1 - - SR-BP1 - - - gene with protein product - - - - Ensembl - ENSG00000147955 - - - Genatlas - SIGMAR1 - - - HGNC - 8157 - - - IUPHAR - 2552 - - - OMIM - 601978 - - - SwissProt - Q99720 - - - ClinVar - SIGMAR1 - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 139583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139583 - X-linked hereditary sensory and autonomic neuropathy with deafness - - Disease - - - Disorder - - - - 25986071[PMID] - - apoptosis inducing factor mitochondria associated 1 - AIFM1 - - AIF - CMTX4 - DFNX5 - - - gene with protein product - - - - OMIM - 300169 - - - SwissProt - O95831 - - - Ensembl - ENSG00000156709 - - - Genatlas - AIFM1 - - - HGNC - 8768 - - - Reactome - O95831 - - - ClinVar - AIFM1 - - - - - Xq26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1667 - Wolcott-Rallison syndrome - - Disease - - - Disorder - - - - 21050479[PMID] - - eukaryotic translation initiation factor 2 alpha kinase 3 - EIF2AK3 - - pancreatic eIF-2alpha kinase - PRKR-like endoplasmic reticulum kinase - PKR-like ER kinase - PEK - PERK - - - gene with protein product - - - - ClinVar - EIF2AK3 - - - IUPHAR - 2017 - - - OMIM - 604032 - - - Reactome - Q9NZJ5 - - - SwissProt - Q9NZJ5 - - - Ensembl - ENSG00000172071 - - - Genatlas - EIF2AK3 - - - HGNC - 3255 - - - - - 2p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 139578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139578 - Mutilating hereditary sensory neuropathy with spastic paraplegia - - Disease - - - Disorder - - - - 16399879[PMID] - - chaperonin containing TCP1 subunit 5 - CCT5 - - KIAA0098 - CCT-epsilon - CCTE - - - gene with protein product - - - - Ensembl - ENSG00000150753 - - - Genatlas - CCT5 - - - HGNC - 1618 - - - OMIM - 610150 - - - Reactome - P48643 - - - SwissProt - P48643 - - - ClinVar - CCT5 - - - - - 5p15.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 139589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139589 - Distal hereditary motor neuropathy type 7 - - Disease - - - Disorder - - - - 12627231[PMID] - - dynactin subunit 1 - DCTN1 - - p150 glued homolog (Drosophila) - - - gene with protein product - - - - Ensembl - ENSG00000204843 - - - Genatlas - DCTN1 - - - HGNC - 2711 - - - OMIM - 601143 - - - Reactome - Q14203 - - - SwissProt - Q14203 - - - ClinVar - DCTN1 - - - - - 2p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23141292[PMID] - - solute carrier family 5 member 7 - SLC5A7 - - ChT - High affinity choline transporter 1 - hCHT - CHT1 - - - gene with protein product - - - - OMIM - 608761 - - - Reactome - Q9GZV3 - - - SwissProt - Q9GZV3 - - - Ensembl - ENSG00000115665 - - - Genatlas - SLC5A7 - - - HGNC - 14025 - - - IUPHAR - 914 - - - ClinVar - SLC5A7 - - - - - 2q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 140917 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140917 - Stapes ankylosis with broad thumbs and toes - - Malformation syndrome - - - Disorder - - - - 12089654[PMID] - - noggin - NOG - - - - gene with protein product - - - - Ensembl - ENSG00000183691 - - - Genatlas - NOG - - - HGNC - 7866 - - - OMIM - 602991 - - - Reactome - Q13253 - - - SwissProt - Q13253 - - - ClinVar - NOG - - - - - 17q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 140922 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140922 - Titin-related limb-girdle muscular dystrophy R10 - - Disease - - - Disorder - - - - 20301582[PMID] - - titin - TTN - - CMH9 - CMPD4 - FLJ32040 - LGMD2J - MYLK5 - TMD - - - gene with protein product - - - - Reactome - Q8WZ42 - - - SwissProt - Q8WZ42 - - - ClinVar - TTN - - - Ensembl - ENSG00000155657 - - - Genatlas - TTN - - - HGNC - 12403 - - - IUPHAR - 2265 - - - OMIM - 188840 - - - - - 2q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1545 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1545 - Crisponi syndrome - - Malformation syndrome - - - Disorder - - - - 17436252[PMID]_21370513[PMID] - - cytokine receptor like factor 1 - CRLF1 - - CISS - CISS1 - CLF - CLF-1 - cold-induced sweating syndrome - - - gene with protein product - - - - ClinVar - CRLF1 - - - Ensembl - ENSG00000006016 - - - Genatlas - CRLF1 - - - HGNC - 2364 - - - OMIM - 604237 - - - Reactome - O75462 - - - SwissProt - O75462 - - - - - 19p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20400119[PMID]_21370513[PMID] - - cardiotrophin like cytokine factor 1 - CLCF1 - - B-cell stimulating factor 3 - BSF-3 - BSF3 - CISS2 - CLC - NNT-1 - NNT1 - NR6 - cold-induced sweating syndrome 2 - novel neurotrophin-1 - - - gene with protein product - - - - ClinVar - CLCF1 - - - Ensembl - ENSG00000175505 - - - Genatlas - CLCF1 - - - HGNC - 17412 - - - OMIM - 607672 - - - Reactome - Q9UBD9 - - - SwissProt - Q9UBD9 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 140905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140905 - Hyperlipidemia due to hepatic triacylglycerol lipase deficiency - - Disease - - - Disorder - - - - 1301939[PMID] - - lipase C, hepatic type - LIPC - - HL - HTGL - Triacylglycerol lipase - - - gene with protein product - - - - ClinVar - LIPC - - - Ensembl - ENSG00000166035 - - - Genatlas - LIPC - - - HGNC - 6619 - - - OMIM - 151670 - - - Reactome - P11150 - - - SwissProt - P11150 - - - - - 15q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1540 - Jackson-Weiss syndrome - - Malformation syndrome - - - Disorder - - - - 20301628[PMID]_21438135[PMID] - - fibroblast growth factor receptor 2 - FGFR2 - - CD332 - CEK3 - Crouzon syndrome - ECT1 - K-SAM - Pfeiffer syndrome - TK14 - TK25 - - - gene with protein product - - - - Ensembl - ENSG00000066468 - - - Genatlas - FGFR2 - - - HGNC - 3689 - - - IUPHAR - 1809 - - - OMIM - 176943 - - - Reactome - P21802 - - - SwissProt - P21802 - - - ClinVar - FGFR2 - - - - - 10q26.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 140908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140908 - Brachydactyly type B2 - - Clinical subtype - - - Subtype of disorder - - - - 17668388[PMID] - - noggin - NOG - - - - gene with protein product - - - - Ensembl - ENSG00000183691 - - - Genatlas - NOG - - - HGNC - 7866 - - - OMIM - 602991 - - - Reactome - Q13253 - - - SwissProt - Q13253 - - - ClinVar - NOG - - - - - 17q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 140952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140952 - Syndactyly-telecanthus-anogenital and renal malformations syndrome - - Malformation syndrome - - - Disorder - - - - 18297069[PMID] - - cyclin Q - CCNQ - - cyclin M - CycM - - - gene with protein product - - - - ClinVar - FAM58A - - - Ensembl - ENSG00000262919 - - - Genatlas - FAM58A - - - HGNC - 28434 - - - OMIM - 300708 - - - SwissProt - Q8N1B3 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 140957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140957 - Autosomal dominant macrothrombocytopenia - - Disease - - - Disorder - - - - 34704371[PMID] - - tubulin alpha 8 - TUBA8 - - - - gene with protein product - - - - ClinVar - TUBA8 - - - Ensembl - ENSG00000183785 - - - Genatlas - TUBA8 - - - HGNC - 12410 - - - OMIM - 605742 - - - Reactome - Q9NY65 - - - SwissProt - Q9NY65 - - - - - 22q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21933849[PMID] - - glycoprotein Ib platelet subunit alpha - GP1BA - - CD42b - GPIbalpha - platelet glycoprotein Ib alpha chain - - - gene with protein product - - - - ClinVar - GP1BA - - - Ensembl - ENSG00000185245 - - - Genatlas - GP1BA - - - HGNC - 4439 - - - OMIM - 606672 - - - Reactome - P07359 - - - SwissProt - P07359 - - - - - 17p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27020697[PMID] - - transient receptor potential cation channel subfamily M member 7 - TRPM7 - - CHAK1 - LTRPC7 - TRP-PLIK - - - gene with protein product - - - - ClinVar - TRPM7 - - - SwissProt - Q96QT4 - - - Ensembl - ENSG00000092439 - - - Genatlas - TRPM7 - - - HGNC - 17994 - - - IUPHAR - 499 - - - OMIM - 605692 - - - Reactome - Q96QT4 - - - - - 15q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23927492[PMID] - - growth factor independent 1B transcriptional repressor - GFI1B - - ZNF163B - - - gene with protein product - - - - Ensembl - ENSG00000165702 - - - Genatlas - GFI1B - - - HGNC - 4238 - - - OMIM - 604383 - - - SwissProt - Q5VTD9 - - - ClinVar - GFI1B - - - Reactome - Q5VTD9 - - - - - 9q34.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28064200[PMID] - - glycoprotein Ib platelet subunit beta - GP1BB - - CD42c - GPIbbeta - platelet glycoprotein Ib beta chain - - - gene with protein product - - - - ClinVar - GP1BB - - - Ensembl - ENSG00000203618 - - - Genatlas - GP1BB - - - HGNC - 4440 - - - OMIM - 138720 - - - Reactome - P13224 - - - SwissProt - P13224 - - - - - 22q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28134622[PMID] - - tropomyosin 4 - TPM4 - - - - gene with protein product - - - - Ensembl - ENSG00000167460 - - - Genatlas - TPM4 - - - HGNC - 12013 - - - OMIM - 600317 - - - Reactome - P67936 - - - SwissProt - P67936 - - - ClinVar - TPM4 - - - - - 19p13.12-p13.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 21454453[PMID] - - integrin subunit alpha 2b - ITGA2B - - CD41 - CD41B - PPP1R93 - platelet glycoprotein IIb of IIb/IIIa complex - protein phosphatase 1, regulatory subunit 93 - GPIIb - Integrin alpha-IIb - - - gene with protein product - - - - ClinVar - ITGA2B - - - Ensembl - ENSG00000005961 - - - Genatlas - ITGA2B - - - HGNC - 6138 - - - OMIM - 607759 - - - Reactome - P08514 - - - SwissProt - P08514 - - - IUPHAR - 2441 - - - - - 17q21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18065693[PMID]_19336737[PMID] - - integrin subunit beta 3 - ITGB3 - - CD61 - GPIIIa - antigen CD61 - platelet glycoprotein IIIa - - - gene with protein product - - - - Ensembl - ENSG00000259207 - - - Genatlas - ITGB3 - - - HGNC - 6156 - - - OMIM - 173470 - - - Reactome - P05106 - - - SwissProt - P05106 - - - ClinVar - ITGB3 - - - IUPHAR - 2457 - - - - - 17q21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18849486[PMID] - - tubulin beta 1 class VI - TUBB1 - - Class VI beta-tubulin - dJ543J19.4 - class VI beta-tubulin - - - gene with protein product - - - - Ensembl - ENSG00000101162 - - - Genatlas - TUBB1 - - - HGNC - 16257 - - - OMIM - 612901 - - - Reactome - Q9H4B7 - - - SwissProt - Q9H4B7 - - - ClinVar - TUBB1 - - - - - 20q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23434115[PMID] - - actinin alpha 1 - ACTN1 - - - - gene with protein product - - - - ClinVar - ACTN1 - - - Ensembl - ENSG00000072110 - - - Genatlas - ACTN1 - - - HGNC - 163 - - - OMIM - 102575 - - - Reactome - P12814 - - - SwissProt - P12814 - - - - - 14q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 140944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140944 - CLOVES syndrome - - Malformation syndrome - - - Disorder - - - - 22658544[PMID] - - phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha - PIK3CA - - PI3K - - - gene with protein product - - - - Reactome - P42336 - - - SwissProt - P42336 - - - Ensembl - ENSG00000121879 - - - Genatlas - PIK3CA - - - HGNC - 8975 - - - IUPHAR - 2153 - - - OMIM - 171834 - - - ClinVar - PIK3CA - - - - - 3q26.32 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 1555 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1555 - Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome - - Malformation syndrome - - - Disorder - - - - 20301628[PMID]_21438135[PMID] - - fibroblast growth factor receptor 2 - FGFR2 - - CD332 - CEK3 - Crouzon syndrome - ECT1 - K-SAM - Pfeiffer syndrome - TK14 - TK25 - - - gene with protein product - - - - Ensembl - ENSG00000066468 - - - Genatlas - FGFR2 - - - HGNC - 3689 - - - IUPHAR - 1809 - - - OMIM - 176943 - - - Reactome - P21802 - - - SwissProt - P21802 - - - ClinVar - FGFR2 - - - - - 10q26.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 140941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140941 - Short stature due to primary acid-labile subunit deficiency - - Disease - - - Disorder - - - - 21396577[PMID] - - insulin like growth factor binding protein acid labile subunit - IGFALS - - ALS - - - gene with protein product - - - - ClinVar - IGFALS - - - Ensembl - ENSG00000099769 - - - Genatlas - IGFALS - - - HGNC - 5468 - - - OMIM - 601489 - - - Reactome - P35858 - - - SwissProt - P35858 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1553 - Curry-Jones syndrome - - Malformation syndrome - - - Disorder - - - - 27236920[PMID] - - smoothened, frizzled class receptor - SMO - - frizzled family member 11 - FZD11 - - - gene with protein product - - - - HGNC - 11119 - - - OMIM - 601500 - - - Genatlas - SMO - - - SwissProt - Q99835 - - - Reactome - Q99835 - - - Ensembl - ENSG00000128602 - - - IUPHAR - 239 - - - ClinVar - SMO - - - - - 7q32.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 140927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140927 - Self-limited neonatal-infantile epilepsy - - Disease - - - Disorder - - - - 12243921[PMID] - - sodium voltage-gated channel alpha subunit 2 - SCN2A - - HBSCI - HBSCII - Nav1.2 - - - gene with protein product - - - - ClinVar - SCN2A - - - Ensembl - ENSG00000136531 - - - Genatlas - SCN2A - - - HGNC - 10588 - - - IUPHAR - 579 - - - OMIM - 182390 - - - Reactome - Q99250 - - - SwissProt - Q99250 - - - - - 2q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23360469[PMID] - - potassium voltage-gated channel subfamily Q member 2 - KCNQ2 - - BFNC - ENB1 - HNSPC - KCNA11 - Kv7.2 - - - gene with protein product - - - - ClinVar - KCNQ2 - - - Ensembl - ENSG00000075043 - - - Genatlas - KCNQ2 - - - HGNC - 6296 - - - IUPHAR - 561 - - - OMIM - 602235 - - - Reactome - O43526 - - - SwissProt - O43526 - - - - - 20q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 140976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140976 - RHYNS syndrome - - Disease - - - Disorder - - - - 29891882[PMID] - - transmembrane protein 67 - TMEM67 - - NPHP11 - JBTS6 - MGC26979 - Meckelin - - - gene with protein product - - - - ClinVar - TMEM67 - - - Ensembl - ENSG00000164953 - - - Genatlas - TMEM67 - - - HGNC - 28396 - - - OMIM - 609884 - - - Reactome - Q5HYA8 - - - SwissProt - Q5HYA8 - - - - - 8q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 140969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140969 - Saldino-Mainzer syndrome - - Disease - - - Disorder - - - - 22503633[PMID] - - intraflagellar transport 140 - IFT140 - - KIAA0590 - gs114 - - - gene with protein product - - - - Ensembl - ENSG00000187535 - - - Genatlas - IFT140 - - - HGNC - 29077 - - - OMIM - 614620 - - - Reactome - Q96RY7 - - - SwissProt - Q96RY7 - - - ClinVar - IFT140 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24140113[PMID] - - intraflagellar transport 172 - IFT172 - - NPHP17 - SLB - osm-1 - wim - wimple homolog - BBS20 - - - gene with protein product - - - - OMIM - 607386 - - - Reactome - Q9UG01 - - - SwissProt - Q9UG01 - - - ClinVar - IFT172 - - - Ensembl - ENSG00000138002 - - - Genatlas - IFT172 - - - HGNC - 30391 - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 140966 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140966 - Palmoplantar keratoderma, Nagashima type - - Disease - - - Disorder - - - - 24207119[PMID] - - serpin family B member 7 - SERPINB7 - - MEGSIN - megsin - - - gene with protein product - - - - Ensembl - ENSG00000166396 - - - Genatlas - SERPINB7 - - - HGNC - 13902 - - - OMIM - 603357 - - - SwissProt - O75635 - - - ClinVar - SERPINB7 - - - - - 18q21.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 140963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140963 - Bilateral microtia-deafness-cleft palate syndrome - - Malformation syndrome - - - Disorder - - - - 18394579[PMID] - - homeobox A2 - HOXA2 - - - - gene with protein product - - - - Reactome - O43364 - - - SwissProt - O43364 - - - Ensembl - ENSG00000105996 - - - Genatlas - HOXA2 - - - HGNC - 5103 - - - OMIM - 604685 - - - ClinVar - HOXA2 - - - - - 7p15.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=382 - Guanidinoacetate methyltransferase deficiency - - Disease - - - Disorder - - - - 20301745[PMID] - - guanidinoacetate N-methyltransferase - GAMT - - PIG2 - TP53I2 - - - gene with protein product - - - - ClinVar - GAMT - - - Ensembl - ENSG00000130005 - - - Genatlas - GAMT - - - HGNC - 4136 - - - OMIM - 601240 - - - Reactome - Q14353 - - - SwissProt - Q14353 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=742 - Prolidase deficiency - - Disease - - - Disorder - - - - 18340504[PMID] - - peptidase D - PEPD - - prolidase - Xaa-Pro dipeptidase - imidodipeptidase - - - gene with protein product - - - - OMIM - 613230 - - - SwissProt - P12955 - - - ClinVar - PEPD - - - Ensembl - ENSG00000124299 - - - Genatlas - PEPD - - - HGNC - 8840 - - - IUPHAR - 2389 - - - - - 19q13.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 1571 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1571 - Knobloch syndrome - - Malformation syndrome - - - Disorder - - - - 33693784[PMID] - - p21 (RAC1) activated kinase 2 - PAK2 - - S6/H4 kinase - PAK65 - PAKgamma - - - gene with protein product - - - - Ensembl - ENSG00000180370 - - - HGNC - 8591 - - - OMIM - 605022 - - - IUPHAR - 2134 - - - SwissProt - Q13177 - - - - - 3q29 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 21862674[PMID]_15714516[PMID] - - collagen type XVIII alpha 1 chain - COL18A1 - - KNO1 - KS - endostatin - - - gene with protein product - - - - ClinVar - COL18A1 - - - Ensembl - ENSG00000182871 - - - Genatlas - COL18A1 - - - HGNC - 2195 - - - OMIM - 120328 - - - Reactome - P39060 - - - SwissProt - P39060 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1568 - X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome - - Malformation syndrome - - - Disorder - - - - 23756445[PMID] - - adaptor related protein complex 1 subunit sigma 2 - AP1S2 - - SIGMA1B - - - gene with protein product - - - - Ensembl - ENSG00000182287 - - - Genatlas - AP1S2 - - - HGNC - 560 - - - OMIM - 300629 - - - Reactome - P56377 - - - SwissProt - P56377 - - - ClinVar - AP1S2 - - - - - Xp22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1497 - X-linked complicated corpus callosum dysgenesis - - Clinical subtype - - - Subtype of disorder - - - - 20301657[PMID] - - L1 cell adhesion molecule - L1CAM - - neural cell adhesion molecule L1 - CD171 - CAML1 - NCAM-L1 - - - gene with protein product - - - - ClinVar - L1CAM - - - Ensembl - ENSG00000198910 - - - Genatlas - L1CAM - - - HGNC - 6470 - - - OMIM - 308840 - - - Reactome - P32004 - - - SwissProt - P32004 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 140436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140436 - Primary intraosseous venous malformation - - Disease - - - Disorder - - - - 27476657[PMID] - - engulfment and cell motility 2 - ELMO2 - - CED-12 - CED12 - ELMO-2 - FLJ11656 - KIAA1834 - - - gene with protein product - - - - Reactome - Q96JJ3 - - - Ensembl - ENSG00000062598 - - - HGNC - 17233 - - - OMIM - 606421 - - - Genatlas - ELMO2 - - - SwissProt - Q96JJ3 - - - ClinVar - ELMO2 - - - - - 20q13.12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 1493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493 - Vici syndrome - - Malformation syndrome - - - Disorder - - - - 23222957[PMID] - - ectopic P-granules 5 autophagy tethering factor - EPG5 - - hEPG5 - - - gene with protein product - - - - ClinVar - EPG5 - - - Ensembl - ENSG00000152223 - - - Genatlas - EPG5 - - - HGNC - 29331 - - - OMIM - 615068 - - - SwissProt - Q9HCE0 - - - - - 18q12.3-q21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 1509 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1509 - Coxopodopatellar syndrome - - Disease - - - Disorder - - - - 15106123[PMID] - - T-box transcription factor 4 - TBX4 - - - - gene with protein product - - - - Ensembl - ENSG00000121075 - - - Genatlas - TBX4 - - - HGNC - 11603 - - - OMIM - 601719 - - - SwissProt - P57082 - - - ClinVar - TBX4 - - - - - 17q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1507 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1507 - Autosomal recessive Robinow syndrome - - Clinical subtype - - - Subtype of disorder - - - - 20301418[PMID] - - receptor tyrosine kinase like orphan receptor 2 - ROR2 - - - - gene with protein product - - - - Ensembl - ENSG00000169071 - - - Genatlas - ROR2 - - - HGNC - 10257 - - - IUPHAR - 1846 - - - OMIM - 602337 - - - Reactome - Q01974 - - - SwissProt - Q01974 - - - ClinVar - ROR2 - - - - - 9q22.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 29276006[PMID] - - nucleoredoxin - NXN - - FLJ12614 - NRX - - - gene with protein product - - - - HGNC - 18008 - - - Ensembl - ENSG00000167693 - - - SwissProt - Q6DKJ4 - - - OMIM - 612895 - - - Genatlas - NXN - - - ClinVar - NXN - - - - - 17p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 1517 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1517 - Cantú syndrome - - Malformation syndrome - - - Disorder - - - - 22608503[PMID]_22610116[PMID] - - ATP binding cassette subfamily C member 9 - ABCC9 - - CMD1O - SUR2 - sulfonylurea receptor 2 - - - gene with protein product - - - - ClinVar - ABCC9 - - - Ensembl - ENSG00000069431 - - - Genatlas - ABCC9 - - - HGNC - 60 - - - IUPHAR - 2746 - - - OMIM - 601439 - - - Reactome - O60706 - - - SwissProt - O60706 - - - - - 12p12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24700710[PMID]_24176758[PMID] - - potassium inwardly rectifying channel subfamily J member 8 - KCNJ8 - - Kir6.1 - - - gene with protein product - - - - Genatlas - KCNJ8 - - - HGNC - 6269 - - - IUPHAR - 441 - - - OMIM - 600935 - - - Reactome - Q15842 - - - SwissProt - Q15842 - - - Ensembl - ENSG00000121361 - - - ClinVar - KCNJ8 - - - - - 12p12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1519 - SPECC1L-related hypertelorism syndrome - - Malformation syndrome - - - Disorder - - - - 26111080[PMID] - - sperm antigen with calponin homology and coiled-coil domains 1 like - SPECC1L - - CYTSA - KIAA0376 - cytokinesis and spindle organization A - - - gene with protein product - - - - Reactome - Q69YQ0 - - - Ensembl - ENSG00000100014 - - - Genatlas - SPECC1L - - - HGNC - 29022 - - - OMIM - 614140 - - - SwissProt - Q69YQ0 - - - ClinVar - SPECC1L - - - - - 22q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1520 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1520 - Craniofrontonasal dysplasia - - Malformation syndrome - - - Disorder - - - - 15124102[PMID]_15166289[PMID]_15959873[PMID] - - ephrin B1 - EFNB1 - - Elk-L - LERK2 - EPH-related receptor tyrosine kinase ligand 2 - - - gene with protein product - - - - Ensembl - ENSG00000090776 - - - ClinVar - EFNB1 - - - Genatlas - EFNB1 - - - HGNC - 3226 - - - OMIM - 300035 - - - Reactome - P98172 - - - SwissProt - P98172 - - - - - Xq13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1513 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1513 - Craniodiaphyseal dysplasia - - Malformation syndrome - - - Disorder - - - - 21221996[PMID] - - sclerostin - SOST - - DAND6 - VBCH - - - gene with protein product - - - - Ensembl - ENSG00000167941 - - - Genatlas - SOST - - - HGNC - 13771 - - - OMIM - 605740 - - - Reactome - Q9BQB4 - - - SwissProt - Q9BQB4 - - - ClinVar - SOST - - - - - 17q21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 36436818[PMID] - - Sp7 transcription factor - SP7 - - OSX - osterix - - - gene with protein product - - - - ClinVar - SP7 - - - Ensembl - ENSG00000170374 - - - Genatlas - SP7 - - - HGNC - 17321 - - - OMIM - 606633 - - - SwissProt - Q8TDD2 - - - Reactome - Q8TDD2 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 140481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140481 - Autosomal dominant slowed nerve conduction velocity - - Disease - - - Disorder - - - - 14508709[PMID] - - Rho guanine nucleotide exchange factor 10 - ARHGEF10 - - Gef10 - KIAA0294 - - - gene with protein product - - - - Ensembl - ENSG00000104728 - - - Genatlas - ARHGEF10 - - - HGNC - 14103 - - - OMIM - 608136 - - - SwissProt - O15013 - - - ClinVar - ARHGEF10 - - - Reactome - O15013 - - - - - 8p23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515 - Cranioectodermal dysplasia - - Malformation syndrome - - - Disorder - - - - 22791528[PMID]_24027799[PMID]_21438135[PMID] - - intraflagellar transport 122 - IFT122 - - FAP80 - CFAP80 - SPG - WDR10p - WDR140 - - - gene with protein product - - - - ClinVar - IFT122 - - - Ensembl - ENSG00000163913 - - - Genatlas - IFT122 - - - HGNC - 13556 - - - OMIM - 606045 - - - Reactome - Q9HBG6 - - - SwissProt - Q9HBG6 - - - - - 3q21.3-q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22791528[PMID]_24027799[PMID]_21438135[PMID] - - WD repeat domain 35 - WDR35 - - FAP118 - IFT121 - IFTA1 - KIAA1336 - MGC33196 - CFAP118 - - - gene with protein product - - - - ClinVar - WDR35 - - - Ensembl - ENSG00000118965 - - - Genatlas - WDR35 - - - HGNC - 29250 - - - OMIM - 613602 - - - Reactome - Q9P2L0 - - - SwissProt - Q9P2L0 - - - - - 2p24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22791528[PMID]_24027799[PMID] - - intraflagellar transport 43 - IFT43 - - FLJ32173 - MGC16028 - - - gene with protein product - - - - ClinVar - IFT43 - - - Ensembl - ENSG00000119650 - - - Genatlas - IFT43 - - - HGNC - 29669 - - - OMIM - 614068 - - - Reactome - Q96FT9 - - - SwissProt - Q96FT9 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22791528[PMID]_24027799[PMID] - - WD repeat domain 19 - WDR19 - - Pwdmp - intraflagellar transport 144 homolog (Chlamydomonas) - CFAP66 - DYF-2 - FLJ23127 - IFT144 - KIAA1638 - NPHP13 - ORF26 - Oseg6 - FAP66 - - - gene with protein product - - - - ClinVar - WDR19 - - - Reactome - Q8NEZ3 - - - SwissProt - Q8NEZ3 - - - Ensembl - ENSG00000157796 - - - Genatlas - WDR19 - - - HGNC - 18340 - - - OMIM - 608151 - - - - - 4p14 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26880018[PMID]_27466190[PMID] - - intraflagellar transport 52 - IFT52 - - dJ1028D15.1 - NGD5 - NGD2 - CGI-53 - - - gene with protein product - - - - Genatlas - IFT52 - - - HGNC - 15901 - - - Reactome - Q9Y366 - - - Ensembl - ENSG00000101052 - - - ClinVar - IFT52 - - - OMIM - 617094 - - - SwissProt - Q9Y366 - - - - - 20q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1529 - Craniofacial-deafness-hand syndrome - - Malformation syndrome - - - Disorder - - - - 8664898[PMID] - - paired box 3 - PAX3 - - HUP2 - PAX-3 - - - gene with protein product - - - - Ensembl - ENSG00000135903 - - - Genatlas - PAX3 - - - HGNC - 8617 - - - OMIM - 606597 - - - Reactome - P23760 - - - SwissProt - P23760 - - - ClinVar - PAX3 - - - - - 2q36.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1522 - Craniometaphyseal dysplasia - - Malformation syndrome - - - Disorder - - - - 21438135[PMID]_11326338[PMID]_11326272[PMID] - - ANKH inorganic pyrophosphate transport regulator - ANKH - - solute carrier family 62, member 1 - SLC62A1 - Mineralization regulator ANKH - ANK - CPPDD - HANK - - - gene with protein product - - - - IUPHAR - 3046 - - - ClinVar - ANKH - - - Ensembl - ENSG00000154122 - - - Genatlas - ANKH - - - HGNC - 15492 - - - OMIM - 605145 - - - Reactome - Q9HCJ1 - - - SwissProt - Q9HCJ1 - - - - - 5p15.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 23951358[PMID] - - gap junction protein alpha 1 - GJA1 - - CX43 - ODD - ODOD - SDTY3 - connexin 43 - oculodentodigital dysplasia (syndactyly type III) - - - gene with protein product - - - - ClinVar - GJA1 - - - Ensembl - ENSG00000152661 - - - Genatlas - GJA1 - - - HGNC - 4274 - - - OMIM - 121014 - - - Reactome - P17302 - - - SwissProt - P17302 - - - IUPHAR - 728 - - - - - 6q22.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1525 - Cranio-osteoarthropathy - - Malformation syndrome - - - Disorder - - - - 18500342[PMID]_21438135[PMID] - - 15-hydroxyprostaglandin dehydrogenase - HPGD - - SDR36C1 - 15-hydroxyprostaglandin dehydrogenase (NAD(+)) - short chain dehydrogenase/reductase family 36C, member 1 - - - gene with protein product - - - - OMIM - 601688 - - - Reactome - P15428 - - - SwissProt - P15428 - - - ClinVar - HPGD - - - Ensembl - ENSG00000164120 - - - Genatlas - HPGD - - - HGNC - 5154 - - - IUPHAR - 1384 - - - - - 4q34.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1824 - Lowry-Wood syndrome - - Disease - - - Disorder - - - - 29265708[PMID] - - RNA, U4atac small nuclear - RNU4ATAC - - U4atac snRNA - U4atac - RNU4ATAC1 - - - Non-coding RNA - - - - ClinVar - RNU4ATAC - - - Ensembl - ENSG00000264229 - - - Genatlas - RNU4ATAC - - - HGNC - 34016 - - - OMIM - 601428 - - - SwissProt - - - - - - 2q14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1955 - Spinocerebellar ataxia type 34 - - Disease - - - Disorder - - - - 24566826[PMID] - - ELOVL fatty acid elongase 4 - ELOVL4 - - CT118 - cancer/testis antigen 118 - - - gene with protein product - - - - ClinVar - ELOVL4 - - - Ensembl - ENSG00000118402 - - - Genatlas - ELOVL4 - - - HGNC - 14415 - - - OMIM - 605512 - - - Reactome - Q9GZR5 - - - SwissProt - Q9GZR5 - - - - - 6q14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2209 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2209 - Maternal phenylketonuria syndrome - - Malformation syndrome - - - Disorder - - - - 1915502[PMID] - - phenylalanine hydroxylase - PAH - - PH - phenylalanine 4-monooxygenase - - - gene with protein product - - - - Ensembl - ENSG00000171759 - - - Genatlas - PAH - - - HGNC - 8582 - - - IUPHAR - 1240 - - - OMIM - 612349 - - - Reactome - P00439 - - - SwissProt - P00439 - - - ClinVar - PAH - - - - - 12q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896 - EEC syndrome - - Malformation syndrome - - - Disorder - - - - 21959367[PMID]_24734328[PMID] - - tumor protein p63 - TP63 - - NBP - OFC8 - SHFM4 - p51 - p53CP - p63 - p73H - p73L - p40 - EEC3 - KET - - - gene with protein product - - - - Ensembl - ENSG00000073282 - - - Genatlas - TP63 - - - HGNC - 15979 - - - OMIM - 603273 - - - Reactome - Q9H3D4 - - - SwissProt - Q9H3D4 - - - ClinVar - TP63 - - - - - 3q28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1897 - EEM syndrome - - Malformation syndrome - - - Disorder - - - - 15805154[PMID]_22140374[PMID] - - cadherin 3 - CDH3 - - P-cadherin - CDHP - PCAD - - - gene with protein product - - - - OMIM - 114021 - - - Reactome - P22223 - - - SwissProt - P22223 - - - Ensembl - ENSG00000062038 - - - Genatlas - CDH3 - - - HGNC - 1762 - - - ClinVar - CDH3 - - - - - 16q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1807 - Focal facial dermal dysplasia type III - - Clinical subtype - - - Subtype of disorder - - - - - - twist family bHLH transcription factor 2 - TWIST2 - - DERMO1 - Dermo-1 - bHLHa39 - - - gene with protein product - - - - Ensembl - ENSG00000233608 - - - ClinVar - TWIST2 - - - Reactome - Q8WVJ9 - - - Genatlas - TWIST2 - - - HGNC - 20670 - - - OMIM - 607556 - - - SwissProt - Q8WVJ9 - - - - - 2q37.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1873 - Jalili syndrome - - Malformation syndrome - - - Disorder - - - - 19200525[PMID]_24194943[PMID] - - cyclin and CBS domain divalent metal cation transport mediator 4 - CNNM4 - - KIAA1592 - SLC70A4 - - - gene with protein product - - - - Reactome - Q6P4Q7 - - - OMIM - 607805 - - - SwissProt - Q6P4Q7 - - - Ensembl - ENSG00000158158 - - - Genatlas - CNNM4 - - - HGNC - 105 - - - ClinVar - CNNM4 - - - - - 2q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 1879 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1879 - Melorheostosis with osteopoikilosis - - Malformation syndrome - - - Disorder - - - - 15489854[PMID]_17087626[PMID] - - LEM domain containing 3 - LEMD3 - - inner nuclear membrane protein Man1 - MAN1 - MAN antigen 1 - - - gene with protein product - - - - ClinVar - LEMD3 - - - Ensembl - ENSG00000174106 - - - Genatlas - LEMD3 - - - HGNC - 28887 - - - OMIM - 607844 - - - Reactome - Q9Y2U8 - - - SwissProt - Q9Y2U8 - - - - - 12q14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1872 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1872 - Cone rod dystrophy - - Disease - - - Disorder - - - - 11857109[PMID]_23776498[PMID] - - retinitis pigmentosa GTPase regulator - RPGR - - CORDX1 - - - gene with protein product - - - - Reactome - Q92834 - - - Ensembl - ENSG00000156313 - - - Genatlas - RPGR - - - HGNC - 10295 - - - OMIM - 312610 - - - SwissProt - Q92834 - - - ClinVar - RPGR - - - - - Xp11.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 9279751[PMID]_23563732[PMID] - - peripherin 2 - PRPH2 - - CACD2 - TSPAN22 - rd2 - retinal peripherin - tetraspanin-22 - choroidal dystrophy, central areolar 2 - - - gene with protein product - - - - ClinVar - PRPH2 - - - Ensembl - ENSG00000112619 - - - Genatlas - PRPH2 - - - HGNC - 9942 - - - OMIM - 179605 - - - SwissProt - P23942 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23105016[PMID] - - cilia and flagella associated protein 410 - CFAP410 - - leucine rich repeat containing 76 - nuclear encoded mitochondrial protein - LRRC76 - A2 - YF5 - - - gene with protein product - - - - Reactome - O43822 - - - HGNC - 1260 - - - SwissProt - O43822 - - - Ensembl - ENSG00000160226 - - - OMIM - 603191 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17377520[PMID] - - PITPNM family member 3 - PITPNM3 - - ACKR6 - NIR1 - RDGBA3 - atypical chemokine receptor 6 - - - gene with protein product - - - - Reactome - Q9BZ71 - - - ClinVar - PITPNM3 - - - Ensembl - ENSG00000091622 - - - Genatlas - PITPNM3 - - - HGNC - 21043 - - - OMIM - 608921 - - - SwissProt - Q9BZ71 - - - - - 17p13.2-p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20579627[PMID] - - opsin 1, medium wave sensitive - OPN1MW - - COD5 - OPN1MW1 - cone dystrophy 5 (X-linked) - - - gene with protein product - - - - IUPHAR - 2962 - - - Ensembl - ENSG00000268221 - - - Genatlas - OPN1MW - - - HGNC - 4206 - - - OMIM - 300821 - - - Reactome - P04001 - - - SwissProt - P04001 - - - ClinVar - OPN1MW - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26682157[PMID]_26992781[PMID] - - cone-rod homeobox - CRX - - CRD - LCA7 - OTX3 - orthodenticle homeobox 3 - - - gene with protein product - - - - Reactome - O43186 - - - ClinVar - CRX - - - Ensembl - ENSG00000105392 - - - Genatlas - CRX - - - HGNC - 2383 - - - OMIM - 602225 - - - SwissProt - O43186 - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28369829[PMID] - - nicotinamide nucleotide adenylyltransferase 1 - NMNAT1 - - NMNAT - PNAT1 - nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 - - - gene with protein product - - - - ClinVar - NMNAT1 - - - Ensembl - ENSG00000173614 - - - Genatlas - NMNAT1 - - - HGNC - 17877 - - - OMIM - 608700 - - - Reactome - Q9HAN9 - - - SwissProt - Q9HAN9 - - - - - 1p36.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22177090[PMID] - - cilia and flagella associated protein 418 - CFAP418 - - Bardet-Biedl syndrome 21 - CORD16 - FLJ30600 - RP64 - cone-rod dystrophy 16 - BBS21 - MOT25. - MOT25 - FAP418 - SMALLTALK - - - gene with protein product - - - - Ensembl - ENSG00000156172 - - - Genatlas - C8orf37 - - - HGNC - 27232 - - - OMIM - 614477 - - - SwissProt - Q96NL8 - - - ClinVar - C8orf37 - - - - - 8q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20805371[PMID] - - cadherin related family member 1 - CDHR1 - - CORD15 - KIAA1775 - RP65 - - - gene with protein product - - - - Ensembl - ENSG00000148600 - - - Genatlas - CDHR1 - - - HGNC - 14550 - - - OMIM - 609502 - - - SwissProt - Q96JP9 - - - ClinVar - CDHR1 - - - - - 10q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 10958761[PMID]_23776498[PMID]_26992781[PMID] - - ATP binding cassette subfamily A member 4 - ABCA4 - - ARMD2 - CORD3 - FFM - Stargardt disease - - - gene with protein product - - - - IUPHAR - 759 - - - Ensembl - ENSG00000198691 - - - Genatlas - ABCA4 - - - HGNC - 34 - - - OMIM - 601691 - - - Reactome - P78363 - - - SwissProt - P78363 - - - ClinVar - ABCA4 - - - - - 1p22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12659814[PMID] - - regulating synaptic membrane exocytosis 1 - RIMS1 - - KIAA0340 - RIM - RIM1 - Rab3-interacting molecule - - - gene with protein product - - - - ClinVar - RIMS1 - - - Ensembl - ENSG00000079841 - - - Genatlas - RIMS1 - - - HGNC - 17282 - - - OMIM - 606629 - - - Reactome - Q86UR5 - - - SwissProt - Q86UR5 - - - - - 6q13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12920076[PMID]_26992781[PMID] - - RPGR interacting protein 1 - RPGRIP1 - - CORD13 - LCA6 - RGI1 - - - gene with protein product - - - - Reactome - Q96KN7 - - - Ensembl - ENSG00000092200 - - - Genatlas - RPGRIP1 - - - HGNC - 13436 - - - OMIM - 605446 - - - SwissProt - Q96KN7 - - - ClinVar - RPGRIP1 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16505158[PMID]_26992781[PMID] - - calcium voltage-gated channel subunit alpha1 F - CACNA1F - - CORDX3 - CSNB2A - CSNBX2 - Cav1.4 - JM8 - JMC8 - OA2 - - - gene with protein product - - - - Genatlas - CACNA1F - - - HGNC - 1393 - - - IUPHAR - 531 - - - OMIM - 300110 - - - Reactome - O60840 - - - SwissProt - O60840 - - - Ensembl - ENSG00000102001 - - - ClinVar - CACNA1F - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25052312[PMID] - - cyclic nucleotide gated channel subunit alpha 3 - CNGA3 - - CCNC1 - CCNCa - CNG3 - - - gene with protein product - - - - ClinVar - CNGA3 - - - Ensembl - ENSG00000144191 - - - Genatlas - CNGA3 - - - HGNC - 2150 - - - IUPHAR - 396 - - - OMIM - 600053 - - - SwissProt - Q16281 - - - - - 2q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 10873396[PMID] - - AIP like 1 HSP90 co-chaperone - AIPL1 - - - - gene with protein product - - - - Ensembl - ENSG00000129221 - - - Genatlas - AIPL1 - - - HGNC - 359 - - - OMIM - 604392 - - - SwissProt - Q9NZN9 - - - Reactome - Q9NZN9 - - - ClinVar - AIPL1 - - - - - 17p13.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 23428504[PMID]_26992781[PMID] - - guanylate cyclase activator 1A - GUCA1A - - GCAP-I - COD3 - CORD14 - GCAP - GCAP1 - cone dystrophy 3 - dJ139D8.6 - GCAP-1 - - - gene with protein product - - - - ClinVar - GUCA1A - - - Ensembl - ENSG00000048545 - - - Genatlas - GUCA1A - - - HGNC - 4678 - - - OMIM - 600364 - - - Reactome - P43080 - - - SwissProt - P43080 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20517349[PMID]_26992781[PMID] - - guanylate cyclase 2D, retinal - GUCY2D - - ROS-GC - Leber congenital amaurosis 1 - CYGD - LCA1 - RETGC-1 - ROS-GC1 - retGC - retinal guanylate cyclase 1 - rod outer segment membrane guanylate cyclase - - - gene with protein product - - - - ClinVar - GUCY2D - - - Ensembl - ENSG00000132518 - - - Genatlas - GUCY2D - - - HGNC - 4689 - - - IUPHAR - 2031 - - - OMIM - 600179 - - - Reactome - Q02846 - - - SwissProt - Q02846 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20579627[PMID] - - opsin 1, long wave sensitive - OPN1LW - - COD5 - cone dystrophy 5 (X-linked) - - - gene with protein product - - - - Reactome - P04000 - - - SwissProt - P04000 - - - Ensembl - ENSG00000102076 - - - ClinVar - OPN1LW - - - Genatlas - OPN1LW - - - HGNC - 9936 - - - OMIM - 300822 - - - IUPHAR - 2961 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15028672[PMID]_25789692[PMID] - - retina and anterior neural fold homeobox 2 - RAX2 - - ARMD6 - CORD11 - MGC15631 - - - gene with protein product - - - - Ensembl - ENSG00000173976 - - - Genatlas - RAX2 - - - HGNC - 18286 - - - OMIM - 610362 - - - SwissProt - Q96IS3 - - - ClinVar - RAX2 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16199541[PMID] - - semaphorin 4A - SEMA4A - - CORD10 - FLJ12287 - SemB - - - gene with protein product - - - - ClinVar - SEMA4A - - - Ensembl - ENSG00000196189 - - - Genatlas - SEMA4A - - - HGNC - 10729 - - - OMIM - 607292 - - - Reactome - Q9H3S1 - - - SwissProt - Q9H3S1 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19718270[PMID] - - prominin 1 - PROM1 - - AC133 - CD133 - CORD12 - RP41 - AC133 antigen - Retinitis pigmentosa 41, Cone-rod dystrophy 12 - - - gene with protein product - - - - ClinVar - PROM1 - - - Ensembl - ENSG00000007062 - - - Genatlas - PROM1 - - - HGNC - 9454 - - - OMIM - 604365 - - - SwissProt - O43490 - - - - - 4p15.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17033974[PMID] - - calcium voltage-gated channel auxiliary subunit alpha2delta 4 - CACNA2D4 - - alpha2delta-4 - - - gene with protein product - - - - Ensembl - ENSG00000151062 - - - Genatlas - CACNA2D4 - - - HGNC - 20202 - - - OMIM - 608171 - - - Reactome - Q7Z3S7 - - - SwissProt - Q7Z3S7 - - - ClinVar - CACNA2D4 - - - - - 12p13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19409519[PMID] - - ADAM metallopeptidase domain 9 - ADAM9 - - KIAA0021 - MCMP - MDC9 - Mltng - meltrin gamma - - - gene with protein product - - - - IUPHAR - 1657 - - - OMIM - 602713 - - - Reactome - Q13443 - - - SwissProt - Q13443 - - - Ensembl - ENSG00000168615 - - - Genatlas - ADAM9 - - - HGNC - 216 - - - ClinVar - ADAM9 - - - - - 8p11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11006213[PMID]_26992781[PMID] - - unc-119 lipid binding chaperone - UNC119 - - HRG4 - POC7 - POC7 centriolar protein homolog A (Chlamydomonas) - POC7A - - - gene with protein product - - - - IUPHAR - 3011 - - - Ensembl - ENSG00000109103 - - - Genatlas - UNC119 - - - HGNC - 12565 - - - OMIM - 604011 - - - SwissProt - Q13432 - - - Reactome - Q13432 - - - ClinVar - UNC119 - - - - - 17q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23746546[PMID] - - RAB28, member RAS oncogene family - RAB28 - - - - gene with protein product - - - - Ensembl - ENSG00000157869 - - - Genatlas - RAB28 - - - HGNC - 9768 - - - OMIM - 612994 - - - SwissProt - P51157 - - - Reactome - P51157 - - - ClinVar - RAB28 - - - - - 4p15.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25018096[PMID] - - POC1 centriolar protein B - POC1B - - FLJ14923 - TUWD12 - - - gene with protein product - - - - Reactome - Q8TC44 - - - Ensembl - ENSG00000139323 - - - Genatlas - POC1B - - - HGNC - 30836 - - - OMIM - 614784 - - - SwissProt - Q8TC44 - - - ClinVar - POC1B - - - - - 12q21.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25983245[PMID] - - DNA damage regulated autophagy modulator 2 - DRAM2 - - MGC54289 - PRO180 - RP5-1180E21.1 - WWFQ154 - - - gene with protein product - - - - SwissProt - Q6UX65 - - - Ensembl - ENSG00000156171 - - - Genatlas - DRAM2 - - - HGNC - 28769 - - - OMIM - 613360 - - - ClinVar - DRAM2 - - - - - 1p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24791901[PMID] - - tubulin tyrosine ligase like 5 - TTLL5 - - SRC1 and TIF2-associated modulatory protein - STAMP - tubulin polyglutamylase TTLL5 - - - gene with protein product - - - - Ensembl - ENSG00000119685 - - - Genatlas - TTLL5 - - - HGNC - 19963 - - - OMIM - 612268 - - - SwissProt - Q6EMB2 - - - Reactome - Q6EMB2 - - - ClinVar - TTLL5 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 33077892[PMID] - - TLC domain containing 3B - TLCD3B - - DKFZP434I2117 - - - gene with protein product - - - - HGNC - 25295 - - - Ensembl - ENSG00000149926 - - - OMIM - 615175 - - - SwissProt - Q71RH2 - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 38420906[PMID] - - ubiquitin associated protein 1 like - UBAP1L - - - - gene with protein product - - - - HGNC - 40028 - - - - - 15q22.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28479318[PMID] - - activating transcription factor 6 - ATF6 - - ATF6A - activating transcription factor 6 alpha - ATP6alpha - - - gene with protein product - - - - Ensembl - ENSG00000118217 - - - Genatlas - ATF6 - - - HGNC - 791 - - - OMIM - 605537 - - - Reactome - P18850 - - - SwissProt - P18850 - - - ClinVar - ATF6 - - - - - 1q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1871 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1871 - Progressive cone dystrophy - - Disease - - - Disorder - - - - 19615668[PMID] - - phosphodiesterase 6C - PDE6C - - ACHM5 - COD4 - PDEA2 - Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha - - - gene with protein product - - - - Ensembl - ENSG00000095464 - - - Genatlas - PDE6C - - - HGNC - 8787 - - - OMIM - 600827 - - - SwissProt - P51160 - - - ClinVar - PDE6C - - - IUPHAR - 1314 - - - - - 10q23.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 14609822[PMID] - - G protein subunit alpha transducin 2 - GNAT2 - - ACHM4 - - - gene with protein product - - - - ClinVar - GNAT2 - - - Ensembl - ENSG00000134183 - - - Genatlas - GNAT2 - - - HGNC - 4394 - - - OMIM - 139340 - - - Reactome - P19087 - - - SwissProt - P19087 - - - - - 1p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15161866[PMID] - - cyclic nucleotide gated channel subunit beta 3 - CNGB3 - - - - gene with protein product - - - - ClinVar - CNGB3 - - - Ensembl - ENSG00000170289 - - - Genatlas - CNGB3 - - - HGNC - 2153 - - - IUPHAR - 399 - - - OMIM - 605080 - - - SwissProt - Q9NQW8 - - - - - 8q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 9425234[PMID]_15735604[PMID] - - guanylate cyclase activator 1A - GUCA1A - - GCAP-I - COD3 - CORD14 - GCAP - GCAP1 - cone dystrophy 3 - dJ139D8.6 - GCAP-1 - - - gene with protein product - - - - ClinVar - GUCA1A - - - Ensembl - ENSG00000048545 - - - Genatlas - GUCA1A - - - HGNC - 4678 - - - OMIM - 600364 - - - Reactome - P43080 - - - SwissProt - P43080 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1860 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1860 - Thanatophoric dysplasia type 1 - - Clinical subtype - - - Subtype of disorder - - - - 20301540[PMID] - - fibroblast growth factor receptor 3 - FGFR3 - - CD333 - CEK2 - JTK4 - - - gene with protein product - - - - Ensembl - ENSG00000068078 - - - Genatlas - FGFR3 - - - HGNC - 3690 - - - IUPHAR - 1810 - - - OMIM - 134934 - - - Reactome - P22607 - - - SwissProt - P22607 - - - ClinVar - FGFR3 - - - - - 4p16.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1865 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1865 - Dyssegmental dysplasia, Silverman-Handmaker type - - Disease - - - Disorder - - - - 11279527[PMID] - - heparan sulfate proteoglycan 2 - HSPG2 - - PRCAN - perlecan - perlecan proteoglycan - endorepellin - - - gene with protein product - - - - ClinVar - HSPG2 - - - Ensembl - ENSG00000142798 - - - Genatlas - HSPG2 - - - HGNC - 5273 - - - OMIM - 142461 - - - Reactome - P98160 - - - SwissProt - P98160 - - - - - 1p36.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1830 - Schimke immuno-osseous dysplasia - - Disease - - - Disorder - - - - 20301550[PMID] - - SNF2 related chromatin remodeling annealing helicase 1 - SMARCAL1 - - ATP-driven annealing helicase - HARP - HHARP - HepA-related protein - - - gene with protein product - - - - ClinVar - SMARCAL1 - - - Ensembl - ENSG00000138375 - - - Genatlas - SMARCAL1 - - - HGNC - 11102 - - - OMIM - 606622 - - - SwissProt - Q9NZC9 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1802 - Ghosal hematodiaphyseal dysplasia - - Malformation syndrome - - - Disorder - - - - 18264100[PMID] - - thromboxane A synthase 1 - TBXAS1 - - CYP5 - CYP5A1 - THAS - TS - TXAS - TXS - cytochrome P450, family 5, subfamily A, polypeptide 1 - - - gene with protein product - - - - Ensembl - ENSG00000059377 - - - Genatlas - TBXAS1 - - - HGNC - 11609 - - - OMIM - 274180 - - - Reactome - P24557 - - - SwissProt - P24557 - - - IUPHAR - 1353 - - - ClinVar - TBXAS1 - - - - - 7q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2128 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2128 - Isolated hemihyperplasia - - Morphological anomaly - - - Disorder - - - - 18159214[PMID] - - insulin like growth factor 2 - IGF2 - - FLJ44734 - IGF-II - preptin - somatomedin A - - - gene with protein product - - - - Ensembl - ENSG00000167244 - - - Genatlas - IGF2 - - - HGNC - 5466 - - - OMIM - 147470 - - - Reactome - P01344 - - - SwissProt - P01344 - - - ClinVar - IGF2 - - - - - 11p15.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15651076[PMID]_16532391[PMID]_18159214[PMID] - - H19 imprinted maternally expressed transcript - H19 - - GMRSP - ASM - ASM1 - D11S813E - LINC00008 - NCRNA00008 - long intergenic non-protein coding RNA 8 - non-protein coding RNA 8 - MIR675HG - MIR675 host gene - glucose metabolism regulatory protein - adult skeletal muscle - - - Non-coding RNA - - - - Ensembl - ENSG00000130600 - - - Genatlas - H19 - - - HGNC - 4713 - - - OMIM - 103280 - - - SwissProt - - - - ClinVar - H19 - - - - - 11p15.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15651076[PMID]_16770802[PMID] - - KCNQ1 opposite strand/antisense transcript 1 - KCNQ1OT1 - - KCNQ1 antisense RNA 2 (non-protein coding) - KCNQ1 overlapping transcript 1 (non-protein coding) - KCNQ1-AS2 - KvDMR1 - KvLQT1-AS - LIT1 - NCRNA00012 - non-protein coding RNA 12 - - - Non-coding RNA - - - - ClinVar - KCNQ1OT1 - - - SwissProt - - - - Ensembl - ENSG00000269821 - - - Genatlas - KCNQ1OT1 - - - HGNC - 6295 - - - OMIM - 604115 - - - - - 11p15.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2136 - Hennekam syndrome - - Malformation syndrome - - - Disorder - - - - 19935664[PMID] - - collagen and calcium binding EGF domains 1 - CCBE1 - - FLJ30681 - KIAA1983 - - - gene with protein product - - - - Ensembl - ENSG00000183287 - - - Genatlas - CCBE1 - - - HGNC - 29426 - - - OMIM - 612753 - - - SwissProt - Q6UXH8 - - - ClinVar - CCBE1 - - - - - 18q21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24913602[PMID] - - FAT atypical cadherin 4 - FAT4 - - CDHF14 - CDHR11 - FAT-J - cadherin-related family member 11 - - - gene with protein product - - - - HGNC - 23109 - - - OMIM - 612411 - - - SwissProt - Q6V0I7 - - - Ensembl - ENSG00000196159 - - - Genatlas - FAT4 - - - ClinVar - FAT4 - - - - - 4q28.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28985353[PMID] - - ADAM metallopeptidase with thrombospondin type 1 motif 3 - ADAMTS3 - - ADAMTS-4 - KIAA0366 - - - gene with protein product - - - - HGNC - 219 - - - Ensembl - ENSG00000156140 - - - SwissProt - O15072 - - - ClinVar - ADAMTS3 - - - IUPHAR - 1676 - - - OMIM - 605011 - - - Genatlas - ADAMTS3 - - - Reactome - O15072 - - - - - 4q13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2138 - 46,XX ovotesticular difference of sex development - - Malformation syndrome - - - Disorder - - - - 22051515[PMID] - - SRY-box transcription factor 9 - SOX9 - - SRA1 - - - gene with protein product - - - - Ensembl - ENSG00000125398 - - - Genatlas - SOX9 - - - HGNC - 11204 - - - OMIM - 608160 - - - Reactome - P48436 - - - SwissProt - P48436 - - - ClinVar - SOX9 - - - - - 17q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 1740318[PMID]_11912443[PMID] - - sex determining region Y - SRY - - TDF - testis-determining factor - - - gene with protein product - - - - Ensembl - ENSG00000184895 - - - Genatlas - SRY - - - HGNC - 11311 - - - OMIM - 480000 - - - Reactome - Q05066 - - - SwissProt - Q05066 - - - ClinVar - SRY - - - - - Yp11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27490115[PMID] - - nuclear receptor subfamily 5 group A member 1 - NR5A1 - - AD4BP - ELP - FTZ1 - SF-1 - hSF-1 - steroidogenic factor 1 - SF1 - - - gene with protein product - - - - ClinVar - NR5A1 - - - Ensembl - ENSG00000136931 - - - Genatlas - NR5A1 - - - HGNC - 7983 - - - IUPHAR - 632 - - - OMIM - 184757 - - - Reactome - Q13285 - - - SwissProt - Q13285 - - - - - 9q33.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2143 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2143 - Donnai-Barrow syndrome - - Malformation syndrome - - - Disorder - - - - 20301732[PMID] - - LDL receptor related protein 2 - LRP2 - - DBS - Megalin - gp330 - megalin - - - gene with protein product - - - - Reactome - P98164 - - - SwissProt - P98164 - - - Ensembl - ENSG00000081479 - - - Genatlas - LRP2 - - - HGNC - 6694 - - - OMIM - 600073 - - - ClinVar - LRP2 - - - - - 2q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2148 - Lissencephaly type 1 due to doublecortin gene mutation - - Disease - - - Disorder - - - - 20301364[PMID] - - doublecortin - DCX - - doublecortex - DBCN - DC - LISX - SCLH - XLIS - - - gene with protein product - - - - Ensembl - ENSG00000077279 - - - Genatlas - DCX - - - HGNC - 2714 - - - OMIM - 300121 - - - Reactome - O43602 - - - SwissProt - O43602 - - - ClinVar - DCX - - - - - Xq23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2108 - Hallermann-Streiff syndrome - - Malformation syndrome - - - Disorder - - - - 34021162[PMID] - - chromodomain helicase DNA binding protein 6 - CHD6 - - CHD5 - RIGB - FLJ22369 - KIAA1335 - dJ620E11.1 - - - gene with protein product - - - - OMIM - 616114 - - - SwissProt - Q8TD26 - - - HGNC - 19057 - - - Ensembl - ENSG00000124177 - - - - - 20q12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2114 - Hip dysplasia, Beukes type - - Disease - - - Disorder - - - - - - UFM1 specific peptidase 2 - UFSP2 - - FLJ11200 - - - gene with protein product - - - - Ensembl - ENSG00000109775 - - - Genatlas - UFSP2 - - - HGNC - 25640 - - - OMIM - 611482 - - - SwissProt - Q9NUQ7 - - - ClinVar - UFSP2 - - - - - 4q35.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117 - Hartsfield syndrome - - Malformation syndrome - - - Disorder - - - - 23812909[PMID] - - fibroblast growth factor receptor 1 - FGFR1 - - BFGFR - CD331 - CEK - FLG - H2 - H3 - H4 - H5 - N-SAM - Pfeiffer syndrome - - - gene with protein product - - - - Ensembl - ENSG00000077782 - - - Genatlas - FGFR1 - - - HGNC - 3688 - - - IUPHAR - 1808 - - - OMIM - 136350 - - - Reactome - P11362 - - - SwissProt - P11362 - - - ClinVar - FGFR1 - - - - - 8p11.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=376 - Gordon syndrome - - Malformation syndrome - - - Disorder - - - - 24726473[PMID] - - piezo type mechanosensitive ion channel component 2 - PIEZO2 - - FLJ23144 - FLJ23403 - FLJ34907 - HsT748 - HsT771 - - - gene with protein product - - - - ClinVar - PIEZO2 - - - IUPHAR - 2946 - - - Ensembl - ENSG00000154864 - - - Genatlas - PIEZO2 - - - HGNC - 26270 - - - OMIM - 613629 - - - SwissProt - Q9H5I5 - - - - - 18p11.22-p11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092 - Focal dermal hypoplasia - - Malformation syndrome - - - Disorder - - - - 19586929[PMID] - - porcupine O-acyltransferase - PORCN - - MG61 - PORC - PPN - por - - - gene with protein product - - - - ClinVar - PORCN - - - IUPHAR - 3145 - - - Ensembl - ENSG00000102312 - - - Genatlas - PORCN - - - HGNC - 17652 - - - OMIM - 300651 - - - Reactome - Q9H237 - - - SwissProt - Q9H237 - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2098 - Acromesomelic dysplasia, Grebe type - - Malformation syndrome - - - Disorder - - - - 24129431[PMID] - - bone morphogenetic protein receptor type 1B - BMPR1B - - ALK6 - CDw293 - - - gene with protein product - - - - Ensembl - ENSG00000138696 - - - Genatlas - BMPR1B - - - HGNC - 1077 - - - IUPHAR - 1789 - - - OMIM - 603248 - - - Reactome - O00238 - - - SwissProt - O00238 - - - ClinVar - BMPR1B - - - - - 4q22.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - growth differentiation factor 5 - GDF5 - - BMP14 - CDMP1 - cartilage-derived morphogenetic protein-1 - - - gene with protein product - - - - ClinVar - GDF5 - - - OMIM - 601146 - - - Reactome - P43026 - - - SwissProt - P43026 - - - Ensembl - ENSG00000125965 - - - Genatlas - GDF5 - - - HGNC - 4220 - - - - - 20q11.22 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=380 - Greig cephalopolysyndactyly syndrome - - Malformation syndrome - - - Disorder - - - - 10441342[PMID]_12794692[PMID]_20301619[PMID]_18435847[PMID] - - GLI family zinc finger 3 - GLI3 - - ACLS - DNA-binding protein - PAP-A - PAPA - PAPA1 - PAPB - PPDIV - oncogene GLI3 - zinc finger protein GLI3 - - - gene with protein product - - - - Ensembl - ENSG00000106571 - - - ClinVar - GLI3 - - - Genatlas - GLI3 - - - HGNC - 4319 - - - OMIM - 165240 - - - Reactome - P10071 - - - SwissProt - P10071 - - - - - 7p14.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2095 - Gorlin-Chaudhry-Moss syndrome - - Clinical subtype - - - Subtype of disorder - - - - 29100093[PMID] - - solute carrier family 25 member 24 - SLC25A24 - - ATP-Mg/P(i) co-transporter 1 - small calcium-binding mitochondrial carrier protein 1 - SCAMC1 - APC1 - DKFZp586G0123 - Calcium-binding mitochondrial carrier protein SCaMC-1 - SCAMC-1 - - - gene with protein product - - - - ClinVar - SLC25A24 - - - Ensembl - ENSG00000085491 - - - OMIM - 608744 - - - Genatlas - SLC25A24 - - - IUPHAR - 1077 - - - HGNC - 20662 - - - SwissProt - Q6NUK1 - - - - - 1p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 157846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157846 - Neuroferritinopathy - - Disease - - - Disorder - - - - 16116125[PMID]_23447832[PMID] - - ferritin light chain - FTL - - L apoferritin - MGC71996 - NBIA3 - ferritin L subunit - ferritin L-chain - ferritin light polypeptide-like 3 - neurodegeneration with brain iron accumulation 3 - FTL1 - - - gene with protein product - - - - ClinVar - FTL - - - Ensembl - ENSG00000087086 - - - Genatlas - FTL - - - HGNC - 3999 - - - OMIM - 134790 - - - Reactome - P02792 - - - SwissProt - P02792 - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2067 - GAPO syndrome - - Malformation syndrome - - - Disorder - - - - 23602711[PMID] - - ANTXR cell adhesion molecule 1 - ANTXR1 - - ATR - Anthrax toxin receptor - FLJ10601 - FLJ21776 - TEM8 - Tumor endothelial marker 8 precursor - anthrax toxin receptor - tumor endothelial marker 8 precursor - - - gene with protein product - - - - Ensembl - ENSG00000169604 - - - Genatlas - ANTXR1 - - - HGNC - 21014 - - - OMIM - 606410 - - - Reactome - Q9H6X2 - - - SwissProt - Q9H6X2 - - - ClinVar - ANTXR1 - - - - - 2p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2065 - Galloway-Mowat syndrome - - Malformation syndrome - - - Disorder - - - - 28805828[PMID] - - O-sialoglycoprotein endopeptidase - OSGEP - - GCPL1 - KAE1 - OSGEP1 - PRSMG1 - TCS3 - - - gene with protein product - - - - ClinVar - OSGEP - - - HGNC - 18028 - - - Ensembl - ENSG00000092094 - - - SwissProt - Q9NPF4 - - - OMIM - 610107 - - - Genatlas - OSGEP - - - Reactome - Q9NPF4 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28805828[PMID] - - TP53 regulating kinase - TP53RK - - BUD32 - dJ101A2.2 - Nori-2p - prpk - p53-related protein kinase - TPRKB - - - gene with protein product - - - - IUPHAR - 2248 - - - HGNC - 16197 - - - ClinVar - TP53RK - - - Ensembl - ENSG00000172315 - - - SwissProt - Q96S44 - - - OMIM - 608679 - - - Genatlas - TP53RK - - - Reactome - Q96S44 - - - - - 20q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25466283[PMID] - - WD repeat domain 73 - WDR73 - - FLJ14888 - HSPC264 - - - gene with protein product - - - - ClinVar - WDR73 - - - Ensembl - ENSG00000177082 - - - Genatlas - WDR73 - - - HGNC - 25928 - - - OMIM - 616144 - - - SwissProt - Q6P4I2 - - - - - 15q25.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 28280135[PMID] - - nucleoporin 107 - NUP107 - - NUP84 - nuclear pore complex protein Nup107 - - - gene with protein product - - - - Ensembl - ENSG00000111581 - - - Genatlas - NUP107 - - - HGNC - 29914 - - - OMIM - 607617 - - - Reactome - P57740 - - - SwissProt - P57740 - - - ClinVar - NUP107 - - - - - 12q15 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28805828[PMID] - - TP53RK binding protein - TPRKB - - CGI-121 - CGI121 - - - gene with protein product - - - - ClinVar - TPRKB - - - HGNC - 24259 - - - Ensembl - ENSG00000144034 - - - SwissProt - Q9Y3C4 - - - OMIM - 608680 - - - Genatlas - TPRKB - - - Reactome - Q9Y3C4 - - - - - 2p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28805828[PMID] - - L antigen family member 3 - LAGE3 - - ITBA2 - Pcc1 - CVG5 - DNA segment on chromosome X (unique) 9879 expressed sequence - DXS9879E - DXS9951E - ESO3 - - - gene with protein product - - - - ClinVar - LAGE3 - - - HGNC - 26058 - - - Ensembl - ENSG00000196976 - - - SwissProt - Q14657 - - - OMIM - 300060 - - - Genatlas - LAGE3 - - - Reactome - Q14657 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30079490[PMID] - - WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit - WDR4 - - Wuho - WD repeat domain 4 METTL1 scaffold protein - TRMT82 - TRM82 - TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae) - - - gene with protein product - - - - Genatlas - WDR4 - - - HGNC - 12756 - - - Ensembl - ENSG00000160193 - - - SwissProt - P57081 - - - OMIM - 605924 - - - Reactome - P57081 - - - ClinVar - WDR4 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31481669[PMID] - - GON7 subunit of KEOPS complex - GON7 - - - - gene with protein product - - - - HGNC - 20356 - - - Ensembl - ENSG00000170270 - - - SwissProt - Q9BXV9 - - - Reactome - Q9BXV9 - - - OMIM - 617436 - - - - - 14q32.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30427554[PMID] - - nucleoporin 133 - NUP133 - - FLJ10814 - - - gene with protein product - - - - Ensembl - ENSG00000069248 - - - SwissProt - Q8WUM0 - - - Reactome - Q8WUM0 - - - OMIM - 607613 - - - HGNC - 18016 - - - - - 1q42.13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 31481669[PMID] - - yrdC N6-threonylcarbamoyltransferase domain containing - YRDC - - FLJ23476 - SUA5 - ischemia/reperfusion inducible protein - IRIP - - - gene with protein product - - - - Ensembl - ENSG00000196449 - - - HGNC - 28905 - - - OMIM - 612276 - - - SwissProt - Q86U90 - - - - - 1p34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 157941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157941 - Huntington disease-like 1 - - Disease - - - Disorder - - - - 11593450[PMID]_24275071[PMID] - - prion protein (Kanno blood group) - PRNP - - AltPrP - CD230 - Creutzfeldt-Jakob disease - Gerstmann-Strausler-Scheinker syndrome - PRP - fatal familial insomnia - p27-30 - - - gene with protein product - - - - ClinVar - PRNP - - - Ensembl - ENSG00000171867 - - - Genatlas - PRNP - - - HGNC - 9449 - - - OMIM - 176640 - - - Reactome - P04156 - - - SwissProt - P04156 - - - - - 20p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2072 - Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome - - Clinical subtype - - - Subtype of disorder - - - - 10636167[PMID]_20301446[PMID] - - glucosylceramidase beta 1 - GBA1 - - GBA1 - glucocerebrosidase - - - gene with protein product - - - - ClinVar - GBA - - - Ensembl - ENSG00000177628 - - - Genatlas - GBA - - - HGNC - 4177 - - - OMIM - 606463 - - - Reactome - P04062 - - - SwissProt - P04062 - - - IUPHAR - 2978 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 157954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157954 - ANE syndrome - - Disease - - - Disorder - - - - 18439547[PMID] - - RNA binding motif protein 28 - RBM28 - - NOP4 - FLJ10377 - - - gene with protein product - - - - ClinVar - RBM28 - - - Reactome - Q9NW13 - - - Ensembl - ENSG00000106344 - - - Genatlas - RBM28 - - - HGNC - 21863 - - - OMIM - 612074 - - - SwissProt - Q9NW13 - - - - - 7q32.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 157962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157962 - Oculoauricular syndrome, Schorderet type - - Malformation syndrome - - - Disorder - - - - 18423520[PMID]_25574057[PMID] - - H6 family homeobox 1 - HMX1 - - H6 - NKX5-3 - Homeobox protein HMX1 - NK5 homeobox 3 - - - gene with protein product - - - - Ensembl - ENSG00000215612 - - - Genatlas - HMX1 - - - HGNC - 5017 - - - OMIM - 142992 - - - SwissProt - Q9NP08 - - - ClinVar - HMX1 - - - - - 4p16.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2078 - Geroderma osteodysplastica - - Malformation syndrome - - - Disorder - - - - 18997784[PMID] - - golgin, RAB6 interacting - GORAB - - RAB6-interacting golgin - FLJ11752 - GO - NTKL-BP1 - gerodermia osteodysplastica - - - gene with protein product - - - - Reactome - Q5T7V8 - - - Ensembl - ENSG00000120370 - - - Genatlas - GORAB - - - HGNC - 25676 - - - OMIM - 607983 - - - SwissProt - Q5T7V8 - - - ClinVar - GORAB - - - - - 1q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21204221[PMID]_24035636[PMID] - - pyrroline-5-carboxylate reductase 1 - PYCR1 - - P5C - - - gene with protein product - - - - Ensembl - ENSG00000183010 - - - Genatlas - PYCR1 - - - HGNC - 9721 - - - OMIM - 179035 - - - Reactome - P32322 - - - SwissProt - P32322 - - - ClinVar - PYCR1 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 157949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157949 - Combined immunodeficiency with granulomatosis - - Disease - - - Disorder - - - - 25312759[PMID] - - INO80 complex ATPase subunit - INO80 - - INO80 complex subunit A - hINO80 - INO80A - KIAA1259 - - - gene with protein product - - - - Genatlas - INO80 - - - Ensembl - ENSG00000128908 - - - ClinVar - INO80 - - - HGNC - 26956 - - - Reactome - Q9ULG1 - - - OMIM - 610169 - - - SwissProt - Q9ULG1 - - - - - 15q15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18463379[PMID] - - recombination activating 1 - RAG1 - - MGC43321 - RING finger protein 74 - RNF74 - V(D)J recombination-activating protein 1 - recombination activating protein 1 - - - gene with protein product - - - - ClinVar - RAG1 - - - Ensembl - ENSG00000166349 - - - Genatlas - RAG1 - - - HGNC - 9831 - - - OMIM - 179615 - - - Reactome - P15918 - - - SwissProt - P15918 - - - - - 11p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18463379[PMID] - - recombination activating 2 - RAG2 - - - - gene with protein product - - - - ClinVar - RAG2 - - - Ensembl - ENSG00000175097 - - - Genatlas - RAG2 - - - HGNC - 9832 - - - OMIM - 179616 - - - Reactome - P55895 - - - SwissProt - P55895 - - - - - 11p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 157973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157973 - Congenital muscular dystrophy due to LMNA mutation - - Disease - - - Disorder - - - - 18551513[PMID] - - lamin A/C - LMNA - - HGPS - MADA - mandibuloacral dysplasia type A - progerin - - - gene with protein product - - - - ClinVar - LMNA - - - Ensembl - ENSG00000160789 - - - Genatlas - LMNA - - - HGNC - 6636 - - - OMIM - 150330 - - - Reactome - P02545 - - - SwissProt - P02545 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2084 - Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome - - Malformation syndrome - - - Disorder - - - - - - fibrillin 1 - FBN1 - - MASS - Marfan syndrome - OCTD - SGS - asprosin - - - gene with protein product - - - - ClinVar - FBN1 - - - Ensembl - ENSG00000166147 - - - Genatlas - FBN1 - - - HGNC - 3603 - - - OMIM - 134797 - - - Reactome - P35555 - - - SwissProt - P35555 - - - - - 15q21.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 157965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157965 - SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - Subtype of disorder - - - - 18513683[PMID] - - solute carrier family 39 member 13 - SLC39A13 - - ZRT/IRT-like protein 13 - LIV-1 subfamily of ZIP zinc transporters human member 9 - FLJ25785 - ZIP-13 - zinc transporter 13 - Zinc transporter ZIP13 - LZT-Hs9 - ZIP13 - - - gene with protein product - - - - ClinVar - SLC39A13 - - - IUPHAR - 1192 - - - Ensembl - ENSG00000165915 - - - Genatlas - SLC39A13 - - - HGNC - 20859 - - - OMIM - 608735 - - - SwissProt - Q96H72 - - - - - 11p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1826 - Frontometaphyseal dysplasia - - Disease - - - Disorder - - - - 27426733[PMID] - - mitogen-activated protein kinase kinase kinase 7 - MAP3K7 - - MEKK7 - TGF-beta activated kinase 1 - - - gene with protein product - - - - ClinVar - MAP3K7 - - - HGNC - 6859 - - - OMIM - 602614 - - - Genatlas - MAP3K7 - - - SwissProt - O43318 - - - Reactome - O43318 - - - Ensembl - ENSG00000135341 - - - IUPHAR - 2082 - - - - - 6q15 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16596676[PMID]_16835913[PMID]_20301567[PMID] - - filamin A - FLNA - - ABP-280 - actin binding protein 280 - alpha filamin - - - gene with protein product - - - - Ensembl - ENSG00000196924 - - - Genatlas - FLNA - - - HGNC - 3754 - - - OMIM - 300017 - - - Reactome - P21333 - - - SwissProt - P21333 - - - ClinVar - FLNA - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 2050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2050 - Cole-Carpenter syndrome - - Malformation syndrome - - - Disorder - - - - 25683117[PMID] - - prolyl 4-hydroxylase subunit beta - P4HB - - DSI - GIT - P4Hbeta - PDI - PDIA1 - PO4HB - PROHB - collagen prolyl 4-hydroxylase beta - protein disulfide isomerase family A, member 1 - protein disulfide isomerase-associated 1 - - - gene with protein product - - - - ClinVar - P4HB - - - Ensembl - ENSG00000185624 - - - Genatlas - P4HB - - - HGNC - 8548 - - - OMIM - 176790 - - - Reactome - P07237 - - - SwissProt - P07237 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25683121[PMID] - - SEC24 homolog D, COPII coat complex component - SEC24D - - KIAA0755 - - - gene with protein product - - - - Ensembl - ENSG00000150961 - - - Genatlas - SEC24D - - - HGNC - 10706 - - - OMIM - 607186 - - - Reactome - O94855 - - - SwissProt - O94855 - - - ClinVar - SEC24D - - - - - 4q26 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30462379[PMID] - - cartilage associated protein - CRTAP - - CASP - LEPREL3 - P3H5 - leprecan-like 3 - prolyl 3-hydroxylase family member 5 (non-enzymatic) - - - gene with protein product - - - - ClinVar - CRTAP - - - Ensembl - ENSG00000170275 - - - Genatlas - CRTAP - - - HGNC - 2379 - - - OMIM - 605497 - - - Reactome - O75718 - - - SwissProt - O75718 - - - - - 3p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2059 - Fryns syndrome - - Malformation syndrome - - - Disorder - - - - 27038415[PMID] - - phosphatidylinositol glycan anchor biosynthesis class N - PIGN - - MDC4 - PIG-N - MCD4 - GPI ethanolamine phosphate transferase 1 - - - gene with protein product - - - - ClinVar - PIGN - - - Ensembl - ENSG00000197563 - - - Genatlas - PIGN - - - HGNC - 8967 - - - OMIM - 606097 - - - Reactome - O95427 - - - SwissProt - O95427 - - - - - 18q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2026 - Gingival fibromatosis-hypertrichosis syndrome - - Malformation syndrome - - - Disorder - - - - 24831815[PMID] - - ATP binding cassette subfamily A member 5 - ABCA5 - - EST90625 - - - gene with protein product - - - - Reactome - Q8WWZ7 - - - ClinVar - ABCA5 - - - Ensembl - ENSG00000154265 - - - Genatlas - ABCA5 - - - HGNC - 35 - - - OMIM - 612503 - - - SwissProt - Q8WWZ7 - - - IUPHAR - 760 - - - - - 17q24.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028 - Juvenile hyaline fibromatosis - - Clinical subtype - - - Subtype of disorder - - - - 14508707[PMID] - - ANTXR cell adhesion molecule 2 - ANTXR2 - - CMG-2 - CMG2 - FLJ31074 - capillary morphogenesis protein 2 - - - gene with protein product - - - - ClinVar - ANTXR2 - - - Ensembl - ENSG00000163297 - - - Genatlas - ANTXR2 - - - HGNC - 21732 - - - OMIM - 608041 - - - Reactome - P58335 - - - SwissProt - P58335 - - - - - 4q21.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2021 - Fibrochondrogenesis - - Disease - - - Disorder - - - - 21035103[PMID] - - collagen type XI alpha 1 chain - COL11A1 - - CO11A1 - STL2 - collagen XI, alpha-1 polypeptide - - - gene with protein product - - - - ClinVar - COL11A1 - - - Ensembl - ENSG00000060718 - - - Genatlas - COL11A1 - - - HGNC - 2186 - - - OMIM - 120280 - - - Reactome - P12107 - - - SwissProt - P12107 - - - - - 1p21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22246659[PMID] - - collagen type XI alpha 2 chain - COL11A2 - - HKE5 - - - gene with protein product - - - - ClinVar - COL11A2 - - - Ensembl - ENSG00000204248 - - - Genatlas - COL11A2 - - - HGNC - 2187 - - - OMIM - 120290 - - - Reactome - P13942 - - - SwissProt - P13942 - - - - - 6p21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2024 - Hereditary gingival fibromatosis - - Malformation syndrome - - - Disorder - - - - 11386754[PMID] - - gingival fibromatosis, hereditary, 2 - GINGF2 - - GGF2 - HGF2 - - - Disorder-associated locus - - - - Ensembl - - - - SwissProt - - - - HGNC - 14252 - - - OMIM - - - - - - 5q13-q22 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 11868160[PMID] - - SOS Ras/Rac guanine nucleotide exchange factor 1 - SOS1 - - GF1 - HGF - - - gene with protein product - - - - ClinVar - SOS1 - - - IUPHAR - 3096 - - - Ensembl - ENSG00000115904 - - - Genatlas - SOS1 - - - HGNC - 11187 - - - OMIM - 182530 - - - Reactome - Q07889 - - - SwissProt - Q07889 - - - - - 2p22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28686854[PMID] - - RE1 silencing transcription factor - REST - - NRSF - XBR - neuron-restrictive silencer factor - - - gene with protein product - - - - Ensembl - ENSG00000084093 - - - Genatlas - REST - - - HGNC - 9966 - - - OMIM - 600571 - - - Reactome - Q13127 - - - SwissProt - Q13127 - - - ClinVar - REST - - - - - 4q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2044 - Floating-Harbor syndrome - - Malformation syndrome - - - Disorder - - - - 22965468[PMID] - - Snf2 related CREBBP activator protein - SRCAP - - DOMO1 - Domino homolog 1 (Drosophila) - EAF1 - KIAA0309 - SWR1 - Swi2/Snf2-related ATPase homolog (S. cerevisiae) - domino homolog 1 (Drosophila) - - - gene with protein product - - - - ClinVar - SRCAP - - - Ensembl - ENSG00000080603 - - - Genatlas - SRCAP - - - HGNC - 16974 - - - OMIM - 611421 - - - SwissProt - Q6ZRS2 - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2036 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2036 - Scalp-ear-nipple syndrome - - Malformation syndrome - - - Disorder - - - - 23541344[PMID] - - potassium channel tetramerization domain containing 1 - KCTD1 - - - - gene with protein product - - - - ClinVar - KCTD1 - - - SwissProt - Q719H9 - - - Ensembl - ENSG00000134504 - - - Genatlas - KCTD1 - - - HGNC - 18249 - - - OMIM - 613420 - - - Reactome - Q719H9 - - - - - 18q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 158769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158769 - Plaque-form urticaria pigmentosa - - Clinical subtype - - - Subtype of disorder - - - - 11505412[PMID] - - KIT proto-oncogene, receptor tyrosine kinase - KIT - - C-Kit - CD117 - SCFR - mast/stem cell growth factor receptor Kit - - - gene with protein product - - - - ClinVar - KIT - - - Ensembl - ENSG00000157404 - - - Genatlas - KIT - - - HGNC - 6342 - - - IUPHAR - 1805 - - - OMIM - 164920 - - - Reactome - P10721 - - - SwissProt - P10721 - - - - - 4q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 158766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158766 - Typical urticaria pigmentosa - - Clinical subtype - - - Subtype of disorder - - - - 11505412[PMID] - - KIT proto-oncogene, receptor tyrosine kinase - KIT - - C-Kit - CD117 - SCFR - mast/stem cell growth factor receptor Kit - - - gene with protein product - - - - ClinVar - KIT - - - Ensembl - ENSG00000157404 - - - Genatlas - KIT - - - HGNC - 6342 - - - IUPHAR - 1805 - - - OMIM - 164920 - - - Reactome - P10721 - - - SwissProt - P10721 - - - - - 4q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 158687 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158687 - Lethal acantholytic erosive disorder - - Disease - - - Disorder - - - - 16175511[PMID]_20302578[PMID] - - desmoplakin - DSP - - DPI - DPII - KPPS2 - PPKS2 - - - gene with protein product - - - - ClinVar - DSP - - - Ensembl - ENSG00000096696 - - - Genatlas - DSP - - - HGNC - 3052 - - - OMIM - 125647 - - - Reactome - P15924 - - - SwissProt - P15924 - - - - - 6p24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21320868[PMID] - - junction plakoglobin - JUP - - DP3 - DPIII - PDGB - PKGB - PG - desmosomal protein 3 - - - gene with protein product - - - - HGNC - 6207 - - - OMIM - 173325 - - - Reactome - P14923 - - - SwissProt - P14923 - - - Ensembl - ENSG00000173801 - - - Genatlas - JUP - - - ClinVar - JUP - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 158684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158684 - Epidermolysis bullosa simplex with pyloric atresia - - Disease - - - Disorder - - - - 20052759[PMID]_20301336[PMID] - - plectin - PLEC - - PCN - PLTN - - - gene with protein product - - - - Ensembl - ENSG00000178209 - - - Genatlas - PLEC - - - HGNC - 9069 - - - OMIM - 601282 - - - Reactome - Q15149 - - - SwissProt - Q15149 - - - ClinVar - PLEC - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - integrin subunit beta 4 - ITGB4 - - CD104 - - - gene with protein product - - - - ClinVar - ITGB4 - - - Ensembl - ENSG00000132470 - - - Genatlas - ITGB4 - - - HGNC - 6158 - - - OMIM - 147557 - - - Reactome - P16144 - - - SwissProt - P16144 - - - IUPHAR - 2458 - - - - - 17q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 158681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158681 - Epidermolysis bullosa simplex with circinate migratory erythema - - Disease - - - Disorder - - - - 12925204[PMID] - - keratin 5 - KRT5 - - KRT5A - CK-5 - - - gene with protein product - - - - ClinVar - KRT5 - - - Ensembl - ENSG00000186081 - - - Genatlas - KRT5 - - - HGNC - 6442 - - - OMIM - 148040 - - - Reactome - P13647 - - - SwissProt - P13647 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 158676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158676 - Localized dystrophic epidermolysis bullosa, nails only - - Clinical subtype - - - Subtype of disorder - - - - - - collagen type VII alpha 1 chain - COL7A1 - - LC collagen - collagen VII, alpha-1 polypeptide - - - gene with protein product - - - - ClinVar - COL7A1 - - - Ensembl - ENSG00000114270 - - - Genatlas - COL7A1 - - - HGNC - 2214 - - - OMIM - 120120 - - - Reactome - Q02388 - - - SwissProt - Q02388 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 158673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158673 - Localized dystrophic epidermolysis bullosa, acral form - - Clinical subtype - - - Subtype of disorder - - - - - - collagen type VII alpha 1 chain - COL7A1 - - LC collagen - collagen VII, alpha-1 polypeptide - - - gene with protein product - - - - ClinVar - COL7A1 - - - Ensembl - ENSG00000114270 - - - Genatlas - COL7A1 - - - HGNC - 2214 - - - OMIM - 120120 - - - Reactome - Q02388 - - - SwissProt - Q02388 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 158668 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158668 - Ectodermal dysplasia-skin fragility syndrome - - Disease - - - Disorder - - - - 19945625[PMID] - - plakophilin 1 - PKP1 - - B6P - ectodermal dysplasia/skin fragility syndrome - - - gene with protein product - - - - ClinVar - PKP1 - - - Ensembl - ENSG00000081277 - - - Genatlas - PKP1 - - - HGNC - 9023 - - - OMIM - 601975 - - - Reactome - Q13835 - - - SwissProt - Q13835 - - - - - 1q32.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 158778 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158778 - Isolated bone marrow mastocytosis - - Disease - - - Disorder - - - - - - KIT proto-oncogene, receptor tyrosine kinase - KIT - - C-Kit - CD117 - SCFR - mast/stem cell growth factor receptor Kit - - - gene with protein product - - - - ClinVar - KIT - - - Ensembl - ENSG00000157404 - - - Genatlas - KIT - - - HGNC - 6342 - - - IUPHAR - 1805 - - - OMIM - 164920 - - - Reactome - P10721 - - - SwissProt - P10721 - - - - - 4q12 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 158775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158775 - Smoldering systemic mastocytosis - - Disease - - - Disorder - - - - - - KIT proto-oncogene, receptor tyrosine kinase - KIT - - C-Kit - CD117 - SCFR - mast/stem cell growth factor receptor Kit - - - gene with protein product - - - - ClinVar - KIT - - - Ensembl - ENSG00000157404 - - - Genatlas - KIT - - - HGNC - 6342 - - - IUPHAR - 1805 - - - OMIM - 164920 - - - Reactome - P10721 - - - SwissProt - P10721 - - - - - 4q12 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 158772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158772 - Nodular urticaria pigmentosa - - Clinical subtype - - - Subtype of disorder - - - - 11505412[PMID] - - KIT proto-oncogene, receptor tyrosine kinase - KIT - - C-Kit - CD117 - SCFR - mast/stem cell growth factor receptor Kit - - - gene with protein product - - - - ClinVar - KIT - - - Ensembl - ENSG00000157404 - - - Genatlas - KIT - - - HGNC - 6342 - - - IUPHAR - 1805 - - - OMIM - 164920 - - - Reactome - P10721 - - - SwissProt - P10721 - - - - - 4q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986 - Gollop-Wolfgang complex - - Malformation syndrome - - - Disorder - - - - 25351291[PMID] - - basic helix-loop-helix family member a9 - BHLHA9 - - BHLHF42 - Fingerin - bHLHa9 - - - gene with protein product - - - - ClinVar - BHLHA9 - - - Ensembl - ENSG00000205899 - - - Genatlas - BHLHA9 - - - HGNC - 35126 - - - OMIM - 615416 - - - SwissProt - Q7RTU4 - - - - - 17p13.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 1980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1980 - Bilateral striopallidodentate calcinosis - - Disease - - - Disorder - - - - 38480682[PMID] - - N-alpha-acetyltransferase 60, NatF catalytic subunit - NAA60 - - HAT4 - N-acetyltransferase 15 - Histone acetyltransferase type B protein 4 - N-alpha-acetyltransferase F - NatF - hNaa60 - FLJ14154 - - - gene with protein product - - - - Ensembl - ENSG00000122390 - - - OMIM - 614246 - - - SwissProt - Q9H7X0 - - - HGNC - 25875 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 36443312[PMID] - - cytidine/uridine monophosphate kinase 2 - CMPK2 - - NDK - UMP-CMPK2 - UMP/CMP kinase - cytidylate kinase 2 - nucleoside-diphosphate kinase - TYKi - - - gene with protein product - - - - Ensembl - ENSG00000134326 - - - OMIM - 611787 - - - SwissProt - Q5EBM0 - - - HGNC - 27015 - - - - - 2p25.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 31851307[PMID] - - junctional adhesion molecule 2 - JAM2 - - JAM-2 - VE-JAM - JAM-B - JAMB - CD322 - junctional adhesion molecule B - vascular endothelial junction-associated molecule - - - gene with protein product - - - - HGNC - 14686 - - - Ensembl - ENSG00000154721 - - - SwissProt - P57087 - - - Reactome - P57087 - - - OMIM - 606870 - - - - - 21q21.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 30649222[PMID] - - myogenesis regulating glycosidase - MYORG - - NET37 - - - gene with protein product - - - - HGNC - 19918 - - - Ensembl - ENSG00000164976 - - - SwissProt - Q6NSJ0 - - - OMIM - 618255 - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23255827[PMID]_20301594[PMID] - - platelet derived growth factor receptor beta - PDGFRB - - CD140b - JTK12 - PDGFR1 - - - gene with protein product - - - - ClinVar - PDGFRB - - - Ensembl - ENSG00000113721 - - - Genatlas - PDGFRB - - - HGNC - 8804 - - - IUPHAR - 1804 - - - OMIM - 173410 - - - Reactome - P09619 - - - SwissProt - P09619 - - - - - 5q32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23913003[PMID]_20301594[PMID] - - platelet derived growth factor subunit B - PDGFB - - SSV - becaplermin - oncogene SIS - - - gene with protein product - - - - ClinVar - PDGFB - - - Ensembl - ENSG00000100311 - - - Genatlas - PDGFB - - - HGNC - 8800 - - - OMIM - 190040 - - - Reactome - P01127 - - - SwissProt - P01127 - - - - - 22q13.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22327515[PMID]_20301594[PMID] - - solute carrier family 20 member 2 - SLC20A2 - - Glvr-2 - PiT-2 - Ram-1 - PIT2 - gibbon ape leukemia virus receptor 2 - Sodium-dependent phosphate transporter 2 - - - gene with protein product - - - - OMIM - 158378 - - - Reactome - Q08357 - - - SwissProt - Q08357 - - - Ensembl - ENSG00000168575 - - - Genatlas - SLC20A2 - - - HGNC - 10947 - - - IUPHAR - 1018 - - - ClinVar - SLC20A2 - - - - - 8p11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25938945[PMID] - - xenotropic and polytropic retrovirus receptor 1 - XPR1 - - SYG1 - X3 - SLC53A1 - solute carrier family 53 (phosphate exporter), member 1 - - - gene with protein product - - - - ClinVar - XPR1 - - - Ensembl - ENSG00000143324 - - - Genatlas - XPR1 - - - HGNC - 12827 - - - OMIM - 605237 - - - SwissProt - Q9UBH6 - - - IUPHAR - 3021 - - - - - 1q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1997 - Blepharo-cheilo-odontic syndrome - - Malformation syndrome - - - Disorder - - - - 28301459[PMID] - - catenin delta 1 - CTNND1 - - p120cas - p120ctn - p120 - KIAA0384 - - - gene with protein product - - - - HGNC - 2515 - - - OMIM - 601045 - - - SwissProt - O60716 - - - Ensembl - ENSG00000198561 - - - Reactome - O60716 - - - Genatlas - CTNND1 - - - ClinVar - CTNND1 - - - - - 11q12.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 28301459[PMID] - - cadherin 1 - CDH1 - - CD324 - E-Cadherin - uvomorulin - - - gene with protein product - - - - Ensembl - ENSG00000039068 - - - Genatlas - CDH1 - - - HGNC - 1748 - - - OMIM - 192090 - - - Reactome - P12830 - - - SwissProt - P12830 - - - ClinVar - CDH1 - - - - - 16q22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2348 - Familial partial lipodystrophy, Dunnigan type - - Disease - - - Disorder - - - - 10739751[PMID]_10587585[PMID] - - lamin A/C - LMNA - - HGPS - MADA - mandibuloacral dysplasia type A - progerin - - - gene with protein product - - - - ClinVar - LMNA - - - Ensembl - ENSG00000160789 - - - Genatlas - LMNA - - - HGNC - 6636 - - - OMIM - 150330 - - - Reactome - P02545 - - - SwissProt - P02545 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 247768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247768 - Müllerian aplasia and hyperandrogenism - - Malformation syndrome - - - Disorder - - - - 16959810[PMID]_18182450[PMID] - - Wnt family member 4 - WNT4 - - WNT-4 - - - gene with protein product - - - - ClinVar - WNT4 - - - Ensembl - ENSG00000162552 - - - Genatlas - WNT4 - - - HGNC - 12783 - - - OMIM - 603490 - - - Reactome - P56705 - - - SwissProt - P56705 - - - - - 1p36.12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2353 - Schilbach-Rott syndrome - - Malformation syndrome - - - Disorder - - - - 30936464[PMID] - - patched 1 - PTCH1 - - BCNS - SLC65B1 - - - gene with protein product - - - - ClinVar - PTCH1 - - - Ensembl - ENSG00000185920 - - - Genatlas - PTCH1 - - - HGNC - 9585 - - - OMIM - 601309 - - - Reactome - Q13635 - - - SwissProt - Q13635 - - - - - 9q22.32 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 247790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247790 - FTH1-related iron overload - - Disease - - - Disorder - - - - 11389486[PMID] - - ferritin heavy chain 1 - FTH1 - - FHC - FTH - PIG15 - PLIF - apoferritin - placenta immunoregulatory factor - proliferation-inducing protein 15 - H-ferritin - - - gene with protein product - - - - ClinVar - FTH1 - - - Ensembl - ENSG00000167996 - - - Genatlas - FTH1 - - - HGNC - 3976 - - - OMIM - 134770 - - - Reactome - P02794 - - - SwissProt - P02794 - - - - - 11q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 247798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247798 - MUTYH-related polyposis - - Disease - - - Disorder - - - - 17489848[PMID] - - mutY DNA glycosylase - MUTYH - - MYH - - - gene with protein product - - - - ClinVar - MUTYH - - - Ensembl - ENSG00000132781 - - - Genatlas - MUTYH - - - HGNC - 7527 - - - OMIM - 604933 - - - Reactome - Q9UIF7 - - - SwissProt - Q9UIF7 - - - - - 1p34.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 247794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247794 - Juvenile cataract-microcornea-renal glucosuria syndrome - - Disease - - - Disorder - - - - 18304496[PMID] - - solute carrier family 16 member 12 - SLC16A12 - - creatine transporter 2 - MCT12 - monocarboxylic acid transporter 12 - CRT2 - - - gene with protein product - - - - Ensembl - ENSG00000152779 - - - Genatlas - SLC16A12 - - - HGNC - 23094 - - - OMIM - 611910 - - - SwissProt - Q6ZSM3 - - - IUPHAR - 999 - - - ClinVar - SLC16A12 - - - - - 10q23.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 247815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247815 - Autosomal recessive ataxia due to PEX10 deficiency - - Disease - - - Disorder - - - - 20695019[PMID] - - peroxisomal biogenesis factor 10 - PEX10 - - RNF69 - - - gene with protein product - - - - Reactome - O60683 - - - Ensembl - ENSG00000157911 - - - Genatlas - PEX10 - - - HGNC - 8851 - - - OMIM - 602859 - - - SwissProt - O60683 - - - ClinVar - PEX10 - - - - - 1p36.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2363 - Lacrimoauriculodentodigital syndrome - - Malformation syndrome - - - Disorder - - - - 16630169[PMID] - - fibroblast growth factor 10 - FGF10 - - - - gene with protein product - - - - Ensembl - ENSG00000070193 - - - Genatlas - FGF10 - - - HGNC - 3666 - - - OMIM - 602115 - - - Reactome - O15520 - - - SwissProt - O15520 - - - ClinVar - FGF10 - - - - - 5p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16501574[PMID] - - fibroblast growth factor receptor 3 - FGFR3 - - CD333 - CEK2 - JTK4 - - - gene with protein product - - - - Ensembl - ENSG00000068078 - - - Genatlas - FGFR3 - - - HGNC - 3690 - - - IUPHAR - 1810 - - - OMIM - 134934 - - - Reactome - P22607 - - - SwissProt - P22607 - - - ClinVar - FGFR3 - - - - - 4p16.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16501574[PMID] - - fibroblast growth factor receptor 2 - FGFR2 - - CD332 - CEK3 - Crouzon syndrome - ECT1 - K-SAM - Pfeiffer syndrome - TK14 - TK25 - - - gene with protein product - - - - Ensembl - ENSG00000066468 - - - Genatlas - FGFR2 - - - HGNC - 3689 - - - IUPHAR - 1809 - - - OMIM - 176943 - - - Reactome - P21802 - - - SwissProt - P21802 - - - ClinVar - FGFR2 - - - - - 10q26.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 247691 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247691 - Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations - - Disease - - - Disorder - - - - 17660820[PMID]_18583934[PMID]_20876473[PMID] - - three prime repair exonuclease 1 - TREX1 - - DRN3 - - - gene with protein product - - - - Genatlas - TREX1 - - - HGNC - 12269 - - - OMIM - 606609 - - - Reactome - Q9NSU2 - - - SwissProt - Q9NSU2 - - - Ensembl - ENSG00000213689 - - - ClinVar - TREX1 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2340 - Keratosis follicularis spinulosa decalvans - - Disease - - - Disorder - - - - 20672378[PMID] - - membrane bound transcription factor peptidase, site 2 - MBTPS2 - - sterol regulatory element-binding proteins intramembrane protease - S2P - site-2 protease - - - gene with protein product - - - - Ensembl - ENSG00000012174 - - - Genatlas - MBTPS2 - - - HGNC - 15455 - - - OMIM - 300294 - - - Reactome - O43462 - - - SwissProt - O43462 - - - ClinVar - MBTPS2 - - - - - Xp22.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12215835[PMID] - - spermidine/spermine N1-acetyltransferase 1 - SAT1 - - SSAT - diamine N-acetyltransferase 1 - - - gene with protein product - - - - Ensembl - ENSG00000130066 - - - Genatlas - SAT1 - - - HGNC - 10540 - - - OMIM - 313020 - - - Reactome - P21673 - - - SwissProt - P21673 - - - ClinVar - SAT1 - - - - - Xp22.11 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 26142438[PMID] - - LDL receptor related protein 1 - LRP1 - - APOER - CD91 - LRP - LRP1A - transforming growth factor-alpha receptor type V - transforming growth factor-ß receptor type V - transforming growth factor-β receptor type V - - - gene with protein product - - - - Ensembl - ENSG00000123384 - - - Genatlas - LRP1 - - - HGNC - 6692 - - - OMIM - 107770 - - - Reactome - Q07954 - - - SwissProt - Q07954 - - - ClinVar - LRP1 - - - - - 12q13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 247685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247685 - Odontohypophosphatasia - - Clinical subtype - - - Subtype of disorder - - - - 10737975[PMID]_17916236[PMID]_20301329[PMID] - - alkaline phosphatase, biomineralization associated - ALPL - - TNSALP - TNALP - tissue non-specific alkaline phosphatase - TNAP - - - gene with protein product - - - - SwissProt - P05186 - - - Ensembl - ENSG00000162551 - - - Genatlas - ALPL - - - HGNC - 438 - - - OMIM - 171760 - - - Reactome - P05186 - - - ClinVar - ALPL - - - - - 1p36.12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2342 - Haim-Munk syndrome - - Disease - - - Disorder - - - - 10662807[PMID] - - cathepsin C - CTSC - - DPP1 - dipeptidyl peptidase 1 - - - gene with protein product - - - - ClinVar - CTSC - - - Ensembl - ENSG00000109861 - - - Genatlas - CTSC - - - HGNC - 2528 - - - IUPHAR - 2344 - - - OMIM - 602365 - - - Reactome - P53634 - - - SwissProt - P53634 - - - - - 11q14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 247709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247709 - Multiple endocrine neoplasia type 2B - - Clinical subtype - - - Subtype of disorder - - - - 20833330[PMID]_20301434[PMID] - - ret proto-oncogene - RET - - CDHF12 - CDHR16 - PTC - RET receptor tyrosine kinase - RET51 - cadherin-related family member 16 - rearranged during transfection - - - gene with protein product - - - - ClinVar - RET - - - Ensembl - ENSG00000165731 - - - Genatlas - RET - - - HGNC - 9967 - - - IUPHAR - 2185 - - - OMIM - 164761 - - - SwissProt - P07949 - - - Reactome - P07949 - - - - - 10q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 247698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247698 - Multiple endocrine neoplasia type 2A - - Clinical subtype - - - Subtype of disorder - - - - 20833330[PMID]_20301434[PMID] - - ret proto-oncogene - RET - - CDHF12 - CDHR16 - PTC - RET receptor tyrosine kinase - RET51 - cadherin-related family member 16 - rearranged during transfection - - - gene with protein product - - - - ClinVar - RET - - - Ensembl - ENSG00000165731 - - - Genatlas - RET - - - HGNC - 9967 - - - IUPHAR - 2185 - - - OMIM - 164761 - - - SwissProt - P07949 - - - Reactome - P07949 - - - - - 10q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485 - Kniest dysplasia - - Disease - - - Disorder - - - - 10406661[PMID]_15895462[PMID] - - collagen type II alpha 1 chain - COL2A1 - - STL1 - - - gene with protein product - - - - ClinVar - COL2A1 - - - Ensembl - ENSG00000139219 - - - Genatlas - COL2A1 - - - HGNC - 2200 - - - OMIM - 120140 - - - Reactome - P02458 - - - SwissProt - P02458 - - - - - 12q13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 247585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247585 - Citrullinemia type II - - Disease - - - Disorder - - - - 20301360[PMID] - - solute carrier family 25 member 13 - SLC25A13 - - ARALAR2 - CITRIN - mitochondrial aspartate glutamate carrier 2 - Calcium-binding mitochondrial carrier protein Aralar2 - citrullinemia type II - - - gene with protein product - - - - IUPHAR - 1055 - - - Ensembl - ENSG00000004864 - - - Genatlas - SLC25A13 - - - HGNC - 10983 - - - OMIM - 603859 - - - Reactome - Q9UJS0 - - - SwissProt - Q9UJS0 - - - ClinVar - SLC25A13 - - - - - 7q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 247598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247598 - Neonatal intrahepatic cholestasis due to citrin deficiency - - Disease - - - Disorder - - - - 20301360[PMID] - - solute carrier family 25 member 13 - SLC25A13 - - ARALAR2 - CITRIN - mitochondrial aspartate glutamate carrier 2 - Calcium-binding mitochondrial carrier protein Aralar2 - citrullinemia type II - - - gene with protein product - - - - IUPHAR - 1055 - - - Ensembl - ENSG00000004864 - - - Genatlas - SLC25A13 - - - HGNC - 10983 - - - OMIM - 603859 - - - Reactome - Q9UJS0 - - - SwissProt - Q9UJS0 - - - ClinVar - SLC25A13 - - - - - 7q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2332 - KBG syndrome - - Malformation syndrome - - - Disorder - - - - 21782149[PMID]_23184435[PMID] - - ankyrin repeat domain containing 11 - ANKRD11 - - LZ16 - T13 - ankyrin repeats containing cofactor 1 - ANCO-1 - ANCO1 - - - gene with protein product - - - - ClinVar - ANKRD11 - - - Ensembl - ENSG00000167522 - - - Genatlas - ANKRD11 - - - HGNC - 21316 - - - OMIM - 611192 - - - SwissProt - Q6UB99 - - - - - 16q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 247604 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247604 - Juvenile primary lateral sclerosis - - Disease - - - Disorder - - - - 19122027[PMID] - - alsin Rho guanine nucleotide exchange factor ALS2 - ALS2 - - alsin - - - gene with protein product - - - - Ensembl - ENSG00000003393 - - - Genatlas - ALS2 - - - HGNC - 443 - - - OMIM - 606352 - - - SwissProt - Q96Q42 - - - Reactome - Q96Q42 - - - ClinVar - ALS2 - - - - - 2q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23109145[PMID] - - ER lipid raft associated 2 - ERLIN2 - - Erlin-2 - NET32 - - - gene with protein product - - - - Reactome - O94905 - - - ClinVar - ERLIN2 - - - Ensembl - ENSG00000147475 - - - Genatlas - ERLIN2 - - - HGNC - 1356 - - - OMIM - 611605 - - - SwissProt - O94905 - - - - - 8p11.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 247623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247623 - Perinatal lethal hypophosphatasia - - Clinical subtype - - - Subtype of disorder - - - - 10737975[PMID]_17916236[PMID]_20301329[PMID] - - alkaline phosphatase, biomineralization associated - ALPL - - TNSALP - TNALP - tissue non-specific alkaline phosphatase - TNAP - - - gene with protein product - - - - SwissProt - P05186 - - - Ensembl - ENSG00000162551 - - - Genatlas - ALPL - - - HGNC - 438 - - - OMIM - 171760 - - - Reactome - P05186 - - - ClinVar - ALPL - - - - - 1p36.12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 247638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247638 - Prenatal benign hypophosphatasia - - Clinical subtype - - - Subtype of disorder - - - - 10737975[PMID]_17916236[PMID]_20301329[PMID] - - alkaline phosphatase, biomineralization associated - ALPL - - TNSALP - TNALP - tissue non-specific alkaline phosphatase - TNAP - - - gene with protein product - - - - SwissProt - P05186 - - - Ensembl - ENSG00000162551 - - - Genatlas - ALPL - - - HGNC - 438 - - - OMIM - 171760 - - - Reactome - P05186 - - - ClinVar - ALPL - - - - - 1p36.12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2337 - Diffuse palmoplantar keratoderma, Bothnian type - - Disease - - - Disorder - - - - 23830519[PMID] - - aquaporin 5 - AQP5 - - - - gene with protein product - - - - Ensembl - ENSG00000161798 - - - Genatlas - AQP5 - - - HGNC - 638 - - - OMIM - 600442 - - - Reactome - P55064 - - - SwissProt - P55064 - - - IUPHAR - 692 - - - ClinVar - AQP5 - - - - - 12q13.12 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 247651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247651 - Infantile hypophosphatasia - - Clinical subtype - - - Subtype of disorder - - - - 10737975[PMID]_17916236[PMID]_20301329[PMID] - - alkaline phosphatase, biomineralization associated - ALPL - - TNSALP - TNALP - tissue non-specific alkaline phosphatase - TNAP - - - gene with protein product - - - - SwissProt - P05186 - - - Ensembl - ENSG00000162551 - - - Genatlas - ALPL - - - HGNC - 438 - - - OMIM - 171760 - - - Reactome - P05186 - - - ClinVar - ALPL - - - - - 1p36.12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 247667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247667 - Childhood-onset hypophosphatasia - - Clinical subtype - - - Subtype of disorder - - - - 10737975[PMID]_17916236[PMID]_20301329[PMID] - - alkaline phosphatase, biomineralization associated - ALPL - - TNSALP - TNALP - tissue non-specific alkaline phosphatase - TNAP - - - gene with protein product - - - - SwissProt - P05186 - - - Ensembl - ENSG00000162551 - - - Genatlas - ALPL - - - HGNC - 438 - - - OMIM - 171760 - - - Reactome - P05186 - - - ClinVar - ALPL - - - - - 1p36.12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 247676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247676 - Adult hypophosphatasia - - Clinical subtype - - - Subtype of disorder - - - - 10737975[PMID]_17916236[PMID]_20301329[PMID] - - alkaline phosphatase, biomineralization associated - ALPL - - TNSALP - TNALP - tissue non-specific alkaline phosphatase - TNAP - - - gene with protein product - - - - SwissProt - P05186 - - - Ensembl - ENSG00000162551 - - - Genatlas - ALPL - - - HGNC - 438 - - - OMIM - 171760 - - - Reactome - P05186 - - - ClinVar - ALPL - - - - - 1p36.12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494 - Keratoderma hereditarium mutilans - - Disease - - - Disorder - - - - 20854437[PMID]_22960825[PMID] - - gap junction protein beta 2 - GJB2 - - CX26 - NSRD1 - connexin 26 - - - gene with protein product - - - - ClinVar - GJB2 - - - Ensembl - ENSG00000165474 - - - Genatlas - GJB2 - - - HGNC - 4284 - - - OMIM - 121011 - - - Reactome - P29033 - - - SwissProt - P29033 - - - IUPHAR - 716 - - - - - 13q12.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2322 - Kabuki syndrome - - Malformation syndrome - - - Disorder - - - - 21882399[PMID] - - lysine methyltransferase 2D - KMT2D - - histone-lysine N-methyltransferase 2D - ALR - CAGL114 - MLL4 - ALL1-related - - - gene with protein product - - - - Ensembl - ENSG00000167548 - - - HGNC - 7133 - - - OMIM - 602113 - - - Reactome - O14686 - - - SwissProt - O14686 - - - Genatlas - KMT2D - - - ClinVar - KMT2D - - - IUPHAR - 2691 - - - - - 12q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21882399[PMID]_22197486[PMID] - - lysine demethylase 6A - KDM6A - - - - gene with protein product - - - - IUPHAR - 2684 - - - HGNC - 12637 - - - OMIM - 300128 - - - Reactome - O15550 - - - SwissProt - O15550 - - - Ensembl - ENSG00000147050 - - - Genatlas - KDM6A - - - ClinVar - KDM6A - - - - - Xp11.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 247378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247378 - Autosomal recessive secondary polycythemia not associated with VHL gene - - Disease - - - Disorder - - - - 34440325[PMID] - - bisphosphoglycerate mutase - BPGM - - - - gene with protein product - - - - ClinVar - BPGM - - - HGNC - 1093 - - - OMIM - 613896 - - - SwissProt - P07738 - - - Ensembl - ENSG00000172331 - - - Genatlas - BPGM - - - Reactome - P07738 - - - - - 7q33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 247511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247511 - Autosomal dominant secondary polycythemia - - Disease - - - Disorder - - - - 29514032[PMID] - - erythropoietin - EPO - - EP - - - gene with protein product - - - - Reactome - P01588 - - - SwissProt - P01588 - - - Genatlas - EPO - - - Ensembl - ENSG00000130427 - - - OMIM - 133170 - - - HGNC - 3415 - - - ClinVar - EPO - - - - - 7q22.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 16407130[PMID]_24115288[PMID] - - egl-9 family hypoxia inducible factor 1 - EGLN1 - - HIF prolyl hydroxylase 2 - HIFPH2 - PHD2 - SM-20 - ZMYND6 - - - gene with protein product - - - - Genatlas - EGLN1 - - - HGNC - 1232 - - - OMIM - 606425 - - - Reactome - Q9GZT9 - - - SwissProt - Q9GZT9 - - - Ensembl - ENSG00000135766 - - - ClinVar - EGLN1 - - - IUPHAR - 2833 - - - - - 1q42.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 18184961[PMID]_24115288[PMID] - - endothelial PAS domain protein 1 - EPAS1 - - HIF-1 alpha-like factor - HIF2A - HLF - MOP2 - PASD2 - bHLHe73 - - - gene with protein product - - - - IUPHAR - 3148 - - - ClinVar - EPAS1 - - - OMIM - 603349 - - - Reactome - Q99814 - - - SwissProt - Q99814 - - - Ensembl - ENSG00000116016 - - - Genatlas - EPAS1 - - - HGNC - 3374 - - - - - 2p21 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 34440325[PMID] - - hemoglobin subunit alpha 1 - HBA1 - - HBA-T3 - - - gene with protein product - - - - ClinVar - HBA1 - - - Ensembl - ENSG00000206172 - - - Genatlas - HBA1 - - - HGNC - 4823 - - - OMIM - 141800 - - - Reactome - P69905 - - - SwissProt - P69905 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34440325[PMID] - - hemoglobin subunit alpha 2 - HBA2 - - HBA-T2 - - - gene with protein product - - - - ClinVar - HBA2 - - - Ensembl - ENSG00000188536 - - - Genatlas - HBA2 - - - HGNC - 4824 - - - OMIM - 141850 - - - Reactome - P69905 - - - SwissProt - P69905 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34440325[PMID] - - hemoglobin subunit beta - HBB - - CD113t-C - beta-globin - - - gene with protein product - - - - ClinVar - HBB - - - HGNC - 4827 - - - OMIM - 141900 - - - Reactome - P68871 - - - SwissProt - P68871 - - - Ensembl - ENSG00000244734 - - - Genatlas - HBB - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2323 - Sanjad-Sakati syndrome - - Malformation syndrome - - - Disorder - - - - 12389028[PMID] - - tubulin folding cofactor E - TBCE - - KCS1 - pac2 - - - gene with protein product - - - - HGNC - 11582 - - - OMIM - 604934 - - - Reactome - Q15813 - - - SwissProt - Q15813 - - - Genatlas - TBCE - - - Ensembl - ENSG00000284770 - - - ClinVar - TBCE - - - - - 1q42.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 247522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247522 - Primary ciliary dyskinesia-retinitis pigmentosa syndrome - - Disease - - - Disorder - - - - 12920075[PMID]_16055928[PMID] - - retinitis pigmentosa GTPase regulator - RPGR - - CORDX1 - - - gene with protein product - - - - Reactome - Q92834 - - - Ensembl - ENSG00000156313 - - - Genatlas - RPGR - - - HGNC - 10295 - - - OMIM - 312610 - - - SwissProt - Q92834 - - - ClinVar - RPGR - - - - - Xp11.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 247546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247546 - Acute neonatal citrullinemia type I - - Clinical subtype - - - Subtype of disorder - - - - 20301631[PMID] - - argininosuccinate synthase 1 - ASS1 - - CTLN1 - - - gene with protein product - - - - ClinVar - ASS1 - - - Ensembl - ENSG00000130707 - - - Genatlas - ASS1 - - - HGNC - 758 - - - OMIM - 603470 - - - Reactome - P00966 - - - SwissProt - P00966 - - - - - 9q34.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 247573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247573 - Late-onset citrullinemia type I - - Clinical subtype - - - Subtype of disorder - - - - 20301631[PMID] - - argininosuccinate synthase 1 - ASS1 - - CTLN1 - - - gene with protein product - - - - ClinVar - ASS1 - - - Ensembl - ENSG00000130707 - - - Genatlas - ASS1 - - - HGNC - 758 - - - OMIM - 603470 - - - Reactome - P00966 - - - SwissProt - P00966 - - - - - 9q34.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2407 - Laryngo-onycho-cutaneous syndrome - - Disease - - - Disorder - - - - 12915477[PMID]_23869449[PMID] - - laminin subunit alpha 3 - LAMA3 - - kalinin-165kDa - nicein-150kDa - BM600-150kDa - epiligrin - - - gene with protein product - - - - ClinVar - LAMA3 - - - Ensembl - ENSG00000053747 - - - Genatlas - LAMA3 - - - HGNC - 6483 - - - OMIM - 600805 - - - Reactome - Q16787 - - - SwissProt - Q16787 - - - - - 18q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2412 - Dislocation of the hip-dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - 39054052[PMID] - - tripartite motif containing 33 - TRIM33 - - FLJ11429 - KIAA1113 - PTC7 - RFG7 - TF1G - TIF1G - TIF1GAMMA - TIFGAMMA - ret-fused gene 7 - transcriptional intermediary factor 1 gamma - - - gene with protein product - - - - Ensembl - ENSG00000197323 - - - Genatlas - TRIM33 - - - HGNC - 16290 - - - IUPHAR - 2254 - - - OMIM - 605769 - - - Reactome - Q9UPN9 - - - ClinVar - TRIM33 - - - SwissProt - Q9UPN9 - - - - - 1p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 248408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248408 - Familial hypodysfibrinogenemia - - Clinical subtype - - - Subtype of disorder - - - - 14615374[PMID] - - fibrinogen alpha chain - FGA - - - - gene with protein product - - - - ClinVar - FGA - - - Ensembl - ENSG00000171560 - - - Genatlas - FGA - - - HGNC - 3661 - - - OMIM - 134820 - - - Reactome - P02671 - - - SwissProt - P02671 - - - - - 4q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22955321[PMID] - - fibrinogen beta chain - FGB - - - - gene with protein product - - - - ClinVar - FGB - - - Ensembl - ENSG00000171564 - - - Genatlas - FGB - - - HGNC - 3662 - - - OMIM - 134830 - - - Reactome - P02675 - - - SwissProt - P02675 - - - - - 4q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15632207[PMID] - - fibrinogen gamma chain - FGG - - - - gene with protein product - - - - Ensembl - ENSG00000171557 - - - Genatlas - FGG - - - HGNC - 3694 - - - OMIM - 134850 - - - Reactome - P02679 - - - SwissProt - P02679 - - - ClinVar - FGG - - - - - 4q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2396 - Encephalocraniocutaneous lipomatosis - - Disease - - - Disorder - - - - 26942290[PMID] - - fibroblast growth factor receptor 1 - FGFR1 - - BFGFR - CD331 - CEK - FLG - H2 - H3 - H4 - H5 - N-SAM - Pfeiffer syndrome - - - gene with protein product - - - - Ensembl - ENSG00000077782 - - - Genatlas - FGFR1 - - - HGNC - 3688 - - - IUPHAR - 1808 - - - OMIM - 136350 - - - Reactome - P11362 - - - SwissProt - P11362 - - - ClinVar - FGFR1 - - - - - 8p11.23 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 26970110[PMID] - - KRAS proto-oncogene, GTPase - KRAS - - KRAS1 - K-Ras4B - - - gene with protein product - - - - IUPHAR - 2824 - - - ClinVar - KRAS - - - Ensembl - ENSG00000133703 - - - Genatlas - KRAS - - - HGNC - 6407 - - - OMIM - 190070 - - - Reactome - P01116 - - - SwissProt - P01116 - - - - - 12p12.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 248340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248340 - Isolated delta-storage pool disease - - Disease - - - Disorder - - - - 24100448[PMID] - - Fli-1 proto-oncogene, ETS transcription factor - FLI1 - - EWSR2 - SIC-1 - FLI-1 - - - gene with protein product - - - - Reactome - Q01543 - - - ClinVar - FLI1 - - - Ensembl - ENSG00000151702 - - - Genatlas - FLI1 - - - HGNC - 3749 - - - OMIM - 193067 - - - SwissProt - Q01543 - - - - - 11q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2388 - Choreoacanthocytosis - - Disease - - - Disorder - - - - 20301561[PMID] - - vacuolar protein sorting 13 homolog A - VPS13A - - KIAA0986 - chorein - bridge-like lipid transfer protein family member 5A - BLTP5A - - - gene with protein product - - - - ClinVar - VPS13A - - - Ensembl - ENSG00000197969 - - - Genatlas - VPS13A - - - HGNC - 1908 - - - OMIM - 605978 - - - SwissProt - Q96RL7 - - - - - 9q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 248111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248111 - Juvenile Huntington disease - - Disease - - - Disorder - - - - 17181545[PMID] - - huntingtin - HTT - - IT15 - - - gene with protein product - - - - Reactome - P42858 - - - ClinVar - HTT - - - Ensembl - ENSG00000197386 - - - Genatlas - HTT - - - HGNC - 4851 - - - OMIM - 613004 - - - SwissProt - P42858 - - - - - 4p16.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2387 - Leukonychia totalis - - Disease - - - Disorder - - - - 21665001[PMID] - - phospholipase C delta 1 - PLCD1 - - 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 - Phospholipase C δ1 - Phospholipase C d1 - - - gene with protein product - - - - ClinVar - PLCD1 - - - Ensembl - ENSG00000187091 - - - Genatlas - PLCD1 - - - HGNC - 9060 - - - OMIM - 602142 - - - Reactome - P51178 - - - SwissProt - P51178 - - - IUPHAR - 1409 - - - - - 3p22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2379 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2379 - Early-onset parkinsonism-intellectual disability syndrome - - Disease - - - Disorder - - - - 25434005[PMID] - - RAB39B, member RAS oncogene family - RAB39B - - - - gene with protein product - - - - Reactome - Q96DA2 - - - Genatlas - RAB39B - - - HGNC - 16499 - - - OMIM - 300774 - - - SwissProt - Q96DA2 - - - Ensembl - ENSG00000155961 - - - ClinVar - RAB39B - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 247834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247834 - Occult macular dystrophy - - Disease - - - Disorder - - - - 20826268[PMID] - - RP1 like 1 - RP1L1 - - doublecortin domain containing 4B - DCDC4B - - - gene with protein product - - - - ClinVar - RP1L1 - - - Ensembl - ENSG00000183638 - - - Genatlas - RP1L1 - - - HGNC - 15946 - - - OMIM - 608581 - - - SwissProt - Q8IWN7 - - - - - 8p23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 247820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247820 - Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome - - Malformation syndrome - - - Disorder - - - - 20691405[PMID]_21346770[PMID] - - nectin cell adhesion molecule 4 - NECTIN4 - - LNIR - PRR4 - nectin-4 - - - gene with protein product - - - - IUPHAR - 3112 - - - ClinVar - PVRL4 - - - Ensembl - ENSG00000143217 - - - Genatlas - PVRL4 - - - HGNC - 19688 - - - OMIM - 609607 - - - Reactome - Q96NY8 - - - SwissProt - Q96NY8 - - - - - 1q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2378 - Laurin-Sandrow syndrome - - Malformation syndrome - - - Disorder - - - - 24456159[PMID] - - limb development membrane protein 1 - LMBR1 - - ACHP - FLJ11665 - ZRS - - - gene with protein product - - - - ClinVar - LMBR1 - - - Ensembl - ENSG00000105983 - - - Genatlas - LMBR1 - - - HGNC - 13243 - - - OMIM - 605522 - - - SwissProt - Q8WVP7 - - - - - 7q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 247868 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247868 - NLRP12-associated hereditary periodic fever syndrome - - Disease - - - Disorder - - - - 18230725[PMID] - - NLR family pyrin domain containing 12 - NLRP12 - - CLR19.3 - Monarch1 - PAN6 - PYPAF7 - RNO2 - nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12 - - - gene with protein product - - - - Ensembl - ENSG00000142405 - - - Genatlas - NLRP12 - - - HGNC - 22938 - - - OMIM - 609648 - - - SwissProt - P59046 - - - IUPHAR - 1779 - - - ClinVar - NLRP12 - - - - - 19q13.42 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2451 - Mucocutaneous venous malformations - - Malformation syndrome - - - Disorder - - - - 20301733[PMID] - - TEK receptor tyrosine kinase - TEK - - CD202b - TIE-2 - TIE2 - VMCM1 - angiopoietin-1 receptor - - - gene with protein product - - - - Ensembl - ENSG00000120156 - - - Genatlas - TEK - - - HGNC - 11724 - - - IUPHAR - 1842 - - - OMIM - 600221 - - - Reactome - Q02763 - - - SwissProt - Q02763 - - - ClinVar - TEK - - - - - 9p21.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 244305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244305 - Dominant hypophosphatemia with nephrolithiasis or osteoporosis - - Disease - - - Disorder - - - - 12324554[PMID] - - solute carrier family 34 member 1 - SLC34A1 - - NAPI-3 - NPTIIa - Na+-phosphate cotransporter type II - SLC11 - sodium/phosphate co-transporter - solute carrier family 17 (sodium phosphate), member 2 - - - gene with protein product - - - - IUPHAR - 1135 - - - Ensembl - ENSG00000131183 - - - Genatlas - SLC34A1 - - - HGNC - 11019 - - - OMIM - 182309 - - - Reactome - Q06495 - - - SwissProt - Q06495 - - - ClinVar - SLC34A1 - - - - - 5q35.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18784102[PMID] - - NHERF family PDZ scaffold protein 1 - NHERF1 - - NHERF-1 - EBP50 - NHERF - NHE-RF - Na(+)/H(+) exchange regulatory cofactor 1 - ezrin-radixin-moesin-binding phosphoprotein 50 - - - gene with protein product - - - - Reactome - O14745 - - - Ensembl - ENSG00000109062 - - - Genatlas - SLC9A3R1 - - - HGNC - 11075 - - - OMIM - 604990 - - - SwissProt - O14745 - - - ClinVar - SLC9A3R1 - - - - - 17q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 244283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244283 - Biliary atresia with splenic malformation syndrome - - Malformation syndrome - - - Disorder - - - - 18162845[PMID] - - cryptic, EGF-CFC family member 1 - CFC1 - - CRYPTIC - - - gene with protein product - - - - ClinVar - CFC1 - - - Ensembl - ENSG00000136698 - - - Genatlas - CFC1 - - - HGNC - 18292 - - - OMIM - 605194 - - - Reactome - P0CG37 - - - SwissProt - P0CG37 - - - - - 2q21.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 2440 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2440 - Isolated split hand-split foot malformation - - Malformation syndrome - - - Disorder - - - - 28611547[PMID] - - distal-less homeobox 6 - DLX6 - - - - gene with protein product - - - - SwissProt - P56179 - - - OMIM - 600030 - - - Ensembl - ENSG00000006377 - - - Genatlas - DLX6 - - - HGNC - 2919 - - - ClinVar - DLX6 - - - - - 7q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29023680[PMID] - - epidermal growth factor receptor pathway substrate 15 like 1 - EPS15L1 - - eps15R - - - gene with protein product - - - - ClinVar - EPS15L1 - - - HGNC - 24634 - - - Ensembl - ENSG00000127527 - - - SwissProt - Q9UBC2 - - - OMIM - 616826 - - - Genatlas - EPS15L1 - - - Reactome - Q9UBC2 - - - - - 19p13.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 10839977[PMID] - - tumor protein p63 - TP63 - - NBP - OFC8 - SHFM4 - p51 - p53CP - p63 - p73H - p73L - p40 - EEC3 - KET - - - gene with protein product - - - - Ensembl - ENSG00000073282 - - - Genatlas - TP63 - - - HGNC - 15979 - - - OMIM - 603273 - - - Reactome - Q9H3D4 - - - SwissProt - Q9H3D4 - - - ClinVar - TP63 - - - - - 3q28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23169702[PMID] - - SEM1 26S proteasome subunit - SEM1 - - FLJ42280 - DSS1 - ECD - SHSF1 - Shfdg1 - deleted in split-hand/foot 1 - PSMD15 - - - gene with protein product - - - - Ensembl - ENSG00000127922 - - - Genatlas - SHFM1 - - - HGNC - 10845 - - - OMIM - 601285 - - - SwissProt - P60896 - - - Reactome - P60896 - - - ClinVar - SHFM1 - - - - - 7q21.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 18515319[PMID]_20635353[PMID] - - Wnt family member 10B - WNT10B - - SHFM6 - WNT-12 - - - gene with protein product - - - - ClinVar - WNT10B - - - Ensembl - ENSG00000169884 - - - Genatlas - WNT10B - - - HGNC - 12775 - - - OMIM - 601906 - - - Reactome - O00744 - - - SwissProt - O00744 - - - - - 12q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24496061[PMID] - - distal-less homeobox 5 - DLX5 - - - - gene with protein product - - - - Ensembl - ENSG00000105880 - - - Genatlas - DLX5 - - - HGNC - 2918 - - - OMIM - 600028 - - - SwissProt - P56178 - - - ClinVar - DLX5 - - - - - 7q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24115638[PMID]_16691619[PMID] - - beta-transducin repeat containing E3 ubiquitin protein ligase - BTRC - - FBXW1A - Fwd1 - bTrCP - bTrCP1 - beta-TrCP1 - betaTrCP - - - gene with protein product - - - - Ensembl - ENSG00000166167 - - - Genatlas - BTRC - - - HGNC - 1144 - - - OMIM - 603482 - - - Reactome - Q9Y297 - - - SwissProt - Q9Y297 - - - ClinVar - BTRC - - - - - 10q24.32 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 16235095[PMID] - - F-box and WD repeat domain containing 4 - FBXW4 - - Fbw4 - dactylin - - - gene with protein product - - - - HGNC - 10847 - - - Ensembl - ENSG00000107829 - - - SwissProt - P57775 - - - Reactome - P57775 - - - OMIM - 608071 - - - - - 10q24.32 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 244310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244310 - RFT1-CDG - - Disease - - - Disorder - - - - 20301507[PMID] - - RFT1 glycolipid translocator homolog - RFT1 - - CDG1N - congenital disorder of glycosylation 1N - SLC76A1 - - - gene with protein product - - - - Ensembl - ENSG00000163933 - - - Genatlas - RFT1 - - - HGNC - 30220 - - - OMIM - 611908 - - - Reactome - Q96AA3 - - - SwissProt - Q96AA3 - - - ClinVar - RFT1 - - - - - 3p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 244242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244242 - HELLP syndrome - - Disease - - - Disorder - - - - 17914026[PMID] - - CD46 molecule - CD46 - - MGC26544 - TLX - TRA2.10 - trophoblast-lymphocyte cross-reactive antigen - - - gene with protein product - - - - Ensembl - ENSG00000117335 - - - Genatlas - CD46 - - - HGNC - 6953 - - - OMIM - 120920 - - - Reactome - P15529 - - - SwissProt - P15529 - - - ClinVar - CD46 - - - - - 1q32.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 18658028[PMID]_22594569[PMID] - - complement factor H - CFH - - ARMD4 - ARMS1 - FHL1 - H factor 2 (complement) - HUS - age-related maculopathy susceptibility 1 - beta-1H - - - gene with protein product - - - - Ensembl - ENSG00000000971 - - - Genatlas - CFH - - - HGNC - 4883 - - - OMIM - 134370 - - - Reactome - P08603 - - - SwissProt - P08603 - - - ClinVar - CFH - - - - - 1q31.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 18658028[PMID]_22594569[PMID] - - complement factor I - CFI - - C3b-INA - C3b-inactivator - FI - KAF - Konglutinogen-activating factor - - - gene with protein product - - - - OMIM - 217030 - - - Reactome - P05156 - - - SwissProt - P05156 - - - Ensembl - ENSG00000205403 - - - Genatlas - CFI - - - HGNC - 5394 - - - ClinVar - CFI - - - - - 4q25 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 23093777[PMID] - - HELLP associated long non-coding RNA - HELLPAR - - LINC-HELLP - Long intergenic non-protein coding RNA associated with HELLP syndrome - long intergenic non-protein coding RNA associated with HELLP syndrome - - - Non-coding RNA - - - - SwissProt - - - - Ensembl - ENSG00000281344 - - - HGNC - 43984 - - - OMIM - 614985 - - - - - 12q23.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=296 - Ollier disease - - Disease - - - Disorder - - - - 11850620[PMID]_18559376[PMID] - - parathyroid hormone 1 receptor - PTH1R - - - - gene with protein product - - - - ClinVar - PTH1R - - - Reactome - Q03431 - - - SwissProt - Q03431 - - - Ensembl - ENSG00000160801 - - - Genatlas - PTH1R - - - HGNC - 9608 - - - IUPHAR - 331 - - - OMIM - 168468 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22057236[PMID]_22057234[PMID] - - isocitrate dehydrogenase (NADP(+)) 2 - IDH2 - - IDH-2 - - - gene with protein product - - - - Ensembl - ENSG00000182054 - - - Genatlas - IDH2 - - - HGNC - 5383 - - - OMIM - 147650 - - - Reactome - P48735 - - - SwissProt - P48735 - - - IUPHAR - 2885 - - - ClinVar - IDH2 - - - - - 15q26.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 22057236[PMID]_22057234[PMID] - - isocitrate dehydrogenase (NADP(+)) 1 - IDH1 - - - - gene with protein product - - - - IUPHAR - 2884 - - - Ensembl - ENSG00000138413 - - - Genatlas - IDH1 - - - HGNC - 5382 - - - OMIM - 147700 - - - Reactome - O75874 - - - SwissProt - O75874 - - - ClinVar - IDH1 - - - - - 2q34 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 244275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244275 - De novo thrombotic microangiopathy after kidney transplantation - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - - - complement factor I - CFI - - C3b-INA - C3b-inactivator - FI - KAF - Konglutinogen-activating factor - - - gene with protein product - - - - OMIM - 217030 - - - Reactome - P05156 - - - SwissProt - P05156 - - - Ensembl - ENSG00000205403 - - - Genatlas - CFI - - - HGNC - 5394 - - - ClinVar - CFI - - - - - 4q25 - 1 - - - - - Biomarker tested in - - - Assessed - - - - - - complement factor H - CFH - - ARMD4 - ARMS1 - FHL1 - H factor 2 (complement) - HUS - age-related maculopathy susceptibility 1 - beta-1H - - - gene with protein product - - - - Ensembl - ENSG00000000971 - - - Genatlas - CFH - - - HGNC - 4883 - - - OMIM - 134370 - - - Reactome - P08603 - - - SwissProt - P08603 - - - ClinVar - CFH - - - - - 1q31.3 - 1 - - - - - Biomarker tested in - - - Assessed - - - - - - 2438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2438 - Hand-foot-genital syndrome - - Malformation syndrome - - - Disorder - - - - 20301596[PMID] - - homeobox A13 - HOXA13 - - - - gene with protein product - - - - ClinVar - HOXA13 - - - Ensembl - ENSG00000106031 - - - Genatlas - HOXA13 - - - HGNC - 5102 - - - OMIM - 142959 - - - SwissProt - P31271 - - - - - 7p15.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 243343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243343 - Dimethylglycine dehydrogenase deficiency - - Disease - - - Disorder - - - - 11231903[PMID] - - dimethylglycine dehydrogenase - DMGDH - - ME2GLYDH - - - gene with protein product - - - - Reactome - Q9UI17 - - - Ensembl - ENSG00000132837 - - - Genatlas - DMGDH - - - HGNC - 24475 - - - OMIM - 605849 - - - SwissProt - Q9UI17 - - - ClinVar - DMGDH - - - - - 5q14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 243367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243367 - Acute fatty liver of pregnancy - - Disease - - - Disorder - - - - 28515471[PMID] - - hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha - HADHA - - LCHAD - MTPA - gastrin-binding protein - long-chain 2-enoyl-CoA hydratase - long-chain-3-hydroxyacyl-CoA dehydrogenase - mitochondrial trifunctional protein, alpha subunit - GBP - LCEH - - - gene with protein product - - - - Ensembl - ENSG00000084754 - - - Genatlas - HADHA - - - HGNC - 4801 - - - OMIM - 600890 - - - Reactome - P40939 - - - SwissProt - P40939 - - - ClinVar - HADHA - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 247353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247353 - Generalized pustular psoriasis - - Disease - - - Disorder - - - - 21839423[PMID] - - interleukin 36 receptor antagonist - IL36RN - - FIL1 - FIL1(DELTA) - FIL1D - IL-1 related protein 3 - IL-1F5 - IL1HY1 - IL1L1 - IL1RP3 - IL36RA - MGC29840 - family of interleukin 1-delta - interleukin-1 HY1 - interleukin-1 receptor antagonist homolog 1 - - - gene with protein product - - - - ClinVar - IL36RN - - - Ensembl - ENSG00000136695 - - - Genatlas - IL36RN - - - HGNC - 15561 - - - OMIM - 605507 - - - SwissProt - Q9UBH0 - - - Reactome - Q9UBH0 - - - - - 2q14.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24791904[PMID] - - adaptor related protein complex 1 subunit sigma 3 - AP1S3 - - sigma1C - AP-1 complex subunit sigma 3 - - - gene with protein product - - - - Ensembl - ENSG00000152056 - - - Genatlas - AP1S3 - - - HGNC - 18971 - - - OMIM - 615781 - - - Reactome - Q96PC3 - - - SwissProt - Q96PC3 - - - ClinVar - AP1S3 - - - - - 2q36.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 247262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247262 - Hyperphosphatasia-intellectual disability syndrome - - Disease - - - Disorder - - - - 24129430[PMID] - - phosphatidylinositol glycan anchor biosynthesis class V - PIGV - - FLJ20477 - GPI mannosyltransferase 2 - GPI-MT-II - PIG-V - dol-P-Man dependent GPI mannosyltransferase II - - - gene with protein product - - - - Ensembl - ENSG00000060642 - - - Genatlas - PIGV - - - HGNC - 26031 - - - OMIM - 610274 - - - Reactome - Q9NUD9 - - - SwissProt - Q9NUD9 - - - ClinVar - PIGV - - - - - 1p36.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25706356[PMID] - - phosphatidylinositol glycan anchor biosynthesis class L - PIGL - - PIG-L - N-acetylglucosaminylphosphatidylinositol deacetylase - N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase - - - gene with protein product - - - - Ensembl - ENSG00000108474 - - - Genatlas - PIGL - - - HGNC - 8966 - - - OMIM - 605947 - - - Reactome - Q9Y2B2 - - - SwissProt - Q9Y2B2 - - - ClinVar - PIGL - - - - - 17p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22683086[PMID] - - phosphatidylinositol glycan anchor biosynthesis class O - PIGO - - DKFZp434M222 - FLJ00135 - PIG-O - - - gene with protein product - - - - HGNC - 23215 - - - OMIM - 614730 - - - Reactome - Q8TEQ8 - - - SwissProt - Q8TEQ8 - - - Ensembl - ENSG00000165282 - - - Genatlas - PIGO - - - ClinVar - PIGO - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23561847[PMID]_23561846[PMID] - - post-GPI attachment to proteins 2 - PGAP2 - - CWH43-N - Cell wall biogenesis 43 N-terminal homolog (S. cerevisiae) - FGF receptor activating protein 1 - FRAG1 - cell wall biogenesis 43 N-terminal homolog (S. cerevisiae) - - - gene with protein product - - - - ClinVar - PGAP2 - - - Ensembl - ENSG00000148985 - - - Genatlas - PGAP2 - - - HGNC - 17893 - - - OMIM - 615187 - - - SwissProt - Q9UHJ9 - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24439110[PMID] - - post-GPI attachment to proteins phospholipase 3 - PGAP3 - - CAB2 - MGC9753 - PER1 - PP1498 - post-GPI attachment to proteins 3 - - - gene with protein product - - - - ClinVar - PGAP3 - - - Ensembl - ENSG00000161395 - - - Genatlas - PGAP3 - - - HGNC - 23719 - - - OMIM - 611801 - - - SwissProt - Q96FM1 - - - - - 17q12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24367057[PMID] - - phosphatidylinositol glycan anchor biosynthesis class W - PIGW - - FLJ37433 - Gwt1 - GPI-anchored wall protein transfer 1 homolog (S. cerevisiae) - PIG-W - - - gene with protein product - - - - Ensembl - ENSG00000277161 - - - Genatlas - PIGW - - - HGNC - 23213 - - - OMIM - 610275 - - - Reactome - Q7Z7B1 - - - SwissProt - Q7Z7B1 - - - ClinVar - PIGW - - - - - 17q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26293662[PMID] - - phosphatidylinositol glycan anchor biosynthesis class Y - PIGY - - MGC14156 - Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y - PIG-Y - - - gene with protein product - - - - Ensembl - ENSG00000255072 - - - HGNC - 28213 - - - OMIM - 610662 - - - SwissProt - Q3MUY2 - - - - - 4q22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2484 - Melnick-Needles syndrome - - Malformation syndrome - - - Disorder - - - - 20186808[PMID]_21031081[PMID] - - filamin A - FLNA - - ABP-280 - actin binding protein 280 - alpha filamin - - - gene with protein product - - - - Ensembl - ENSG00000196924 - - - Genatlas - FLNA - - - HGNC - 3754 - - - OMIM - 300017 - - - Reactome - P21333 - - - SwissProt - P21333 - - - ClinVar - FLNA - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 247198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247198 - Progressive cerebello-cerebral atrophy - - Disease - - - Disorder - - - - 20920667[PMID] - - Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase - SEPSECS - - SLA - SLA/LP - soluble liver antigen/liver pancreas antigen - O-phosphoseryl-tRNA(Sec) selenium transferase - SecS - SLA-p35 - - - gene with protein product - - - - ClinVar - SEPSECS - - - Ensembl - ENSG00000109618 - - - Genatlas - SEPSECS - - - HGNC - 30605 - - - OMIM - 613009 - - - Reactome - Q9HD40 - - - SwissProt - Q9HD40 - - - - - 4p15.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24577744[PMID] - - VPS53 subunit of GARP complex - VPS53 - - FLJ10979 - HCCS1 - hepatocellular carcinoma suppressor 1 - - - gene with protein product - - - - Reactome - Q5VIR6 - - - ClinVar - VPS53 - - - Ensembl - ENSG00000141252 - - - Genatlas - VPS53 - - - HGNC - 25608 - - - OMIM - 615850 - - - SwissProt - Q5VIR6 - - - - - 17p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2477 - Isolated megalencephaly - - Malformation syndrome - - - Disorder - - - - 23687350[PMID] - - TBC1 domain family member 7 - TBC1D7 - - FLJ32666 - TS complex subunit 3 - dJ257A7.3 - Tre2-Bub2-Cdc16 Domain Family Member 7 - TBC7 - TBC domain family 7 - - - gene with protein product - - - - Reactome - Q9P0N9 - - - ClinVar - TBC1D7 - - - Ensembl - ENSG00000145979 - - - Genatlas - TBC1D7 - - - HGNC - 21066 - - - OMIM - 612655 - - - SwissProt - Q9P0N9 - - - - - 6p24.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2473 - McKusick-Kaufman syndrome - - Malformation syndrome - - - Disorder - - - - 20301675[PMID] - - MKKS centrosomal shuttling protein - MKKS - - - - gene with protein product - - - - Ensembl - ENSG00000125863 - - - Genatlas - MKKS - - - HGNC - 7108 - - - OMIM - 604896 - - - Reactome - Q9NPJ1 - - - SwissProt - Q9NPJ1 - - - ClinVar - MKKS - - - - - 20p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470 - Matthew-Wood syndrome - - Malformation syndrome - - - Disorder - - - - 17503335[PMID] - - signaling receptor and transporter of retinol STRA6 - STRA6 - - FLJ12541 - retinol binding protein 4 receptor - RBP receptor - SLC69A1 - - - gene with protein product - - - - Ensembl - ENSG00000137868 - - - Genatlas - STRA6 - - - HGNC - 30650 - - - OMIM - 610745 - - - Reactome - Q9BX79 - - - SwissProt - Q9BX79 - - - ClinVar - STRA6 - - - - - 15q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35790350[PMID] - - Wnt family member 7B - WNT7B - - - - gene with protein product - - - - HGNC - 12787 - - - Ensembl - ENSG00000188064 - - - OMIM - 601967 - - - SwissProt - P56706 - - - - - 22q13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561 - Marshall-Smith syndrome - - Malformation syndrome - - - Disorder - - - - 20673863[PMID] - - nuclear factor I X - NFIX - - NF1A - CCAAT-binding transcription factor - - - gene with protein product - - - - ClinVar - NFIX - - - Ensembl - ENSG00000008441 - - - Genatlas - NFIX - - - HGNC - 7788 - - - OMIM - 164005 - - - Reactome - Q14938 - - - SwissProt - Q14938 - - - - - 19p13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=559 - Marinesco-Sjögren syndrome - - Disease - - - Disorder - - - - 20301371[PMID]_16650075[PMID] - - SIL1 nucleotide exchange factor - SIL1 - - BAP - ULG5 - - - gene with protein product - - - - ClinVar - SIL1 - - - Ensembl - ENSG00000120725 - - - Genatlas - SIL1 - - - HGNC - 24624 - - - OMIM - 608005 - - - SwissProt - Q9H173 - - - - - 5q31.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2462 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2462 - Shprintzen-Goldberg syndrome - - Malformation syndrome - - - Disorder - - - - 23023332[PMID] - - SKI proto-oncogene - SKI - - Sloan-Kettering Institute proto-oncogene - - - gene with protein product - - - - Ensembl - ENSG00000157933 - - - Genatlas - SKI - - - HGNC - 10896 - - - OMIM - 164780 - - - Reactome - P12755 - - - SwissProt - P12755 - - - ClinVar - SKI - - - - - 1p36.33-p36.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301454[PMID]_8563763[PMID]_9338588[PMID]_16333834[PMID] - - fibrillin 1 - FBN1 - - MASS - Marfan syndrome - OCTD - SGS - asprosin - - - gene with protein product - - - - ClinVar - FBN1 - - - Ensembl - ENSG00000166147 - - - Genatlas - FBN1 - - - HGNC - 3603 - - - OMIM - 134797 - - - Reactome - P35555 - - - SwissProt - P35555 - - - - - 15q21.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 2461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2461 - Marden-Walker syndrome - - Malformation syndrome - - - Disorder - - - - 24726473[PMID] - - piezo type mechanosensitive ion channel component 2 - PIEZO2 - - FLJ23144 - FLJ23403 - FLJ34907 - HsT748 - HsT771 - - - gene with protein product - - - - ClinVar - PIEZO2 - - - IUPHAR - 2946 - - - Ensembl - ENSG00000154864 - - - Genatlas - PIEZO2 - - - HGNC - 26270 - - - OMIM - 613629 - - - SwissProt - Q9H5I5 - - - - - 18p11.22-p11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 251630 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251630 - Anaplastic oligodendroglioma - - Disease - - - Disorder - - - - 23681562[PMID]_19228619[PMID]_19554337[PMID]_23109653[PMID]_24149775[PMID]_20714900[PMID]_21075857[PMID] - - isocitrate dehydrogenase (NADP(+)) 2 - IDH2 - - IDH-2 - - - gene with protein product - - - - Ensembl - ENSG00000182054 - - - Genatlas - IDH2 - - - HGNC - 5383 - - - OMIM - 147650 - - - Reactome - P48735 - - - SwissProt - P48735 - - - IUPHAR - 2885 - - - ClinVar - IDH2 - - - - - 15q26.1 - 1 - - - - - Biomarker tested in - - - Assessed - - - - 25482530[PMID] - - protection of telomeres 1 - POT1 - - DKFZp586D211 - hPot1 - - - gene with protein product - - - - Ensembl - ENSG00000128513 - - - Genatlas - POT1 - - - HGNC - 17284 - - - OMIM - 606478 - - - Reactome - Q9NUX5 - - - SwissProt - Q9NUX5 - - - ClinVar - POT1 - - - - - 7q31.33 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 251636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251636 - Ependymoma - - Disease - - - Disorder - - - - 24553141[PMID] - - zinc finger translocation associated - ZFTA - - MGC3032 - - - gene with protein product - - - - ClinVar - C11orf95 - - - Ensembl - ENSG00000188070 - - - Genatlas - C11orf95 - - - HGNC - 28449 - - - OMIM - 615699 - - - SwissProt - C9JLR9 - - - - - 11q13.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 2176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2176 - Infantile systemic hyalinosis - - Clinical subtype - - - Subtype of disorder - - - - 14508707[PMID] - - ANTXR cell adhesion molecule 2 - ANTXR2 - - CMG-2 - CMG2 - FLJ31074 - capillary morphogenesis protein 2 - - - gene with protein product - - - - ClinVar - ANTXR2 - - - Ensembl - ENSG00000163297 - - - Genatlas - ANTXR2 - - - HGNC - 21732 - - - OMIM - 608041 - - - Reactome - P58335 - - - SwissProt - P58335 - - - - - 4q21.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 251656 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251656 - Oligoastrocytoma - - Disease - - - Disorder - - - - 19228619[PMID]_19554337[PMID]_23109653[PMID]_24149775[PMID]_20714900[PMID]_21075857[PMID] - - isocitrate dehydrogenase (NADP(+)) 2 - IDH2 - - IDH-2 - - - gene with protein product - - - - Ensembl - ENSG00000182054 - - - Genatlas - IDH2 - - - HGNC - 5383 - - - OMIM - 147650 - - - Reactome - P48735 - - - SwissProt - P48735 - - - IUPHAR - 2885 - - - ClinVar - IDH2 - - - - - 15q26.1 - 1 - - - - - Biomarker tested in - - - Assessed - - - - - - 251663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251663 - Anaplastic oligoastrocytoma - - Disease - - - Disorder - - - - 19228619[PMID]_19554337[PMID]_23109653[PMID]_24149775[PMID]_20714900[PMID]_21075857[PMID] - - isocitrate dehydrogenase (NADP(+)) 2 - IDH2 - - IDH-2 - - - gene with protein product - - - - Ensembl - ENSG00000182054 - - - Genatlas - IDH2 - - - HGNC - 5383 - - - OMIM - 147650 - - - Reactome - P48735 - - - SwissProt - P48735 - - - IUPHAR - 2885 - - - ClinVar - IDH2 - - - - - 15q26.1 - 1 - - - - - Biomarker tested in - - - Assessed - - - - - - 251671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251671 - Angiocentric glioma - - Disease - - - Disorder - - - - 26829751[PMID] - - MYB proto-oncogene, transcription factor - MYB - - c-myb - - - gene with protein product - - - - Ensembl - ENSG00000118513 - - - Genatlas - MYB - - - HGNC - 7545 - - - OMIM - 189990 - - - Reactome - P10242 - - - SwissProt - P10242 - - - ClinVar - MYB - - - - - 6q23.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 26829751[PMID] - - QKI, KH domain containing RNA binding - QKI - - QK3 - - - gene with protein product - - - - Reactome - Q96PU8 - - - HGNC - 21100 - - - OMIM - 609590 - - - Genatlas - QKI - - - SwissProt - Q96PU8 - - - Ensembl - ENSG00000112531 - - - ClinVar - QKI - - - - - 6q26 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 2189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2189 - Hydrolethalus - - Malformation syndrome - - - Disorder - - - - 15843405[PMID]_18648327[PMID] - - HYLS1 centriolar and ciliogenesis associated - HYLS1 - - FLJ32915 - - - gene with protein product - - - - Reactome - Q96M11 - - - ClinVar - HYLS1 - - - Ensembl - ENSG00000198331 - - - Genatlas - HYLS1 - - - HGNC - 26558 - - - OMIM - 610693 - - - SwissProt - Q96M11 - - - - - 11q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21552264[PMID] - - kinesin family member 7 - KIF7 - - JBTS12 - - - gene with protein product - - - - ClinVar - KIF7 - - - Ensembl - ENSG00000166813 - - - Genatlas - KIF7 - - - HGNC - 30497 - - - OMIM - 611254 - - - Reactome - Q2M1P5 - - - SwissProt - Q2M1P5 - - - - - 15q26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=312 - Autosomal dominant epidermolytic ichthyosis - - Disease - - - Disorder - - - - 1380725[PMID]_7512983[PMID] - - keratin 1 - KRT1 - - KRT1A - - - gene with protein product - - - - Ensembl - ENSG00000167768 - - - Genatlas - KRT1 - - - HGNC - 6412 - - - OMIM - 139350 - - - SwissProt - P04264 - - - ClinVar - KRT1 - - - Reactome - P04264 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 1380725[PMID]_7512983[PMID] - - keratin 10 - KRT10 - - CK10 - K10 - cytokeratin 10 - epidermolytic hyperkeratosis - - - gene with protein product - - - - Ensembl - ENSG00000186395 - - - Genatlas - KRT10 - - - HGNC - 6413 - - - OMIM - 148080 - - - SwissProt - P13645 - - - Reactome - P13645 - - - ClinVar - KRT10 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2196 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2196 - Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement - - Clinical subtype - - - Subtype of disorder - - - - 17033971[PMID] - - claudin 19 - CLDN19 - - - - gene with protein product - - - - ClinVar - CLDN19 - - - Ensembl - ENSG00000164007 - - - Genatlas - CLDN19 - - - HGNC - 2040 - - - OMIM - 610036 - - - Reactome - Q8N6F1 - - - SwissProt - Q8N6F1 - - - - - 1p34.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 251576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251576 - Gliosarcoma - - Histopathological subtype - - - Subtype of disorder - - - - 25215581[PMID] - - NFKB inhibitor alpha - NFKBIA - - IKBA - IkappaBalpha - MAD-3 - NF-kappa-B inhibitor alpha - - - gene with protein product - - - - Ensembl - ENSG00000100906 - - - Genatlas - NFKBIA - - - HGNC - 7797 - - - OMIM - 164008 - - - Reactome - P25963 - - - SwissProt - P25963 - - - ClinVar - NFKBIA - - - - - 14q13.2 - 1 - - - - - Biomarker tested in - - - Assessed - - - - 22380407[PMID]_20556478[PMID] - - O-6-methylguanine-DNA methyltransferase - MGMT - - methylated-DNA--protein-cysteine methyltransferase - - - gene with protein product - - - - Ensembl - ENSG00000170430 - - - Genatlas - MGMT - - - HGNC - 7059 - - - OMIM - 156569 - - - Reactome - P16455 - - - SwissProt - P16455 - - - ClinVar - MGMT - - - - - 10q26.3 - 1 - - - - - Biomarker tested in - - - Assessed - - - - 24075187[PMID]_24071942[PMID] - - epidermal growth factor receptor - EGFR - - ERBB1 - erb-b2 receptor tyrosine kinase 1 - erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian) - ERRP - - - gene with protein product - - - - ClinVar - EGFR - - - Ensembl - ENSG00000146648 - - - Genatlas - EGFR - - - HGNC - 3236 - - - IUPHAR - 1797 - - - OMIM - 131550 - - - Reactome - P00533 - - - SwissProt - P00533 - - - - - 7p11.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 22837387[PMID] - - fibroblast growth factor receptor 1 - FGFR1 - - BFGFR - CD331 - CEK - FLG - H2 - H3 - H4 - H5 - N-SAM - Pfeiffer syndrome - - - gene with protein product - - - - Ensembl - ENSG00000077782 - - - Genatlas - FGFR1 - - - HGNC - 3688 - - - IUPHAR - 1808 - - - OMIM - 136350 - - - Reactome - P11362 - - - SwissProt - P11362 - - - ClinVar - FGFR1 - - - - - 8p11.23 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 22837387[PMID] - - fibroblast growth factor receptor 3 - FGFR3 - - CD333 - CEK2 - JTK4 - - - gene with protein product - - - - Ensembl - ENSG00000068078 - - - Genatlas - FGFR3 - - - HGNC - 3690 - - - IUPHAR - 1810 - - - OMIM - 134934 - - - Reactome - P22607 - - - SwissProt - P22607 - - - ClinVar - FGFR3 - - - - - 4p16.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 17785346[PMID] - - tumor protein p53 - TP53 - - LFS1 - Li-Fraumeni syndrome - P53 - p53 - - - gene with protein product - - - - Ensembl - ENSG00000141510 - - - Genatlas - TP53 - - - HGNC - 11998 - - - OMIM - 191170 - - - Reactome - P04637 - - - SwissProt - P04637 - - - ClinVar - TP53 - - - - - 17p13.1 - 1 - - - - - Biomarker tested in - - - Assessed - - - - 22837387[PMID] - - transforming acidic coiled-coil containing protein 3 - TACC3 - - ERIC1 - maskin - ERIC-1 - Tacc4 - - - gene with protein product - - - - Ensembl - ENSG00000013810 - - - Genatlas - TACC3 - - - HGNC - 11524 - - - OMIM - 605303 - - - SwissProt - Q9Y6A5 - - - ClinVar - TACC3 - - - - - 4p16.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 22837387[PMID] - - transforming acidic coiled-coil containing protein 1 - TACC1 - - - - gene with protein product - - - - Ensembl - ENSG00000147526 - - - Genatlas - TACC1 - - - HGNC - 11522 - - - OMIM - 605301 - - - SwissProt - O75410 - - - ClinVar - TACC1 - - - - - 8p11.22 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 10851250[PMID] - - peroxisome proliferator activated receptor gamma - PPARG - - PPARG2 - PPARgamma - NR1C3 - PPARG1 - - - gene with protein product - - - - Ensembl - ENSG00000132170 - - - Genatlas - PPARG - - - ClinVar - PPARG - - - HGNC - 9236 - - - IUPHAR - 595 - - - OMIM - 601487 - - - Reactome - P37231 - - - SwissProt - P37231 - - - - - 3p25.2 - 1 - - - - - Biomarker tested in - - - Assessed - - - - 24071842[PMID]_23917401[PMID] - - leucine zipper like post translational regulator 1 - LZTR1 - - BTBD29 - LZTR-1 - - - gene with protein product - - - - SwissProt - Q8N653 - - - Ensembl - ENSG00000099949 - - - Genatlas - LZTR1 - - - HGNC - 6742 - - - OMIM - 600574 - - - ClinVar - LZTR1 - - - - - 22q11.21 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 24075187[PMID]_24071942[PMID] - - septin 14 - SEPTIN14 - - Septin-14 - FLJ44060 - - - gene with protein product - - - - Ensembl - ENSG00000154997 - - - Genatlas - SEPT14 - - - HGNC - 33280 - - - OMIM - 612140 - - - SwissProt - Q6ZU15 - - - ClinVar - sept-14 - - - - - 7p11.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 18772396[PMID] - - isocitrate dehydrogenase (NADP(+)) 1 - IDH1 - - - - gene with protein product - - - - IUPHAR - 2884 - - - Ensembl - ENSG00000138413 - - - Genatlas - IDH1 - - - HGNC - 5382 - - - OMIM - 147700 - - - Reactome - O75874 - - - SwissProt - O75874 - - - ClinVar - IDH1 - - - - - 2q34 - 1 - - - - - Biomarker tested in - - - Assessed - - - - - - 251579 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251579 - Giant cell glioblastoma - - Histopathological subtype - - - Subtype of disorder - - - - 38845690[PMID] - - ROS proto-oncogene 1, receptor tyrosine kinase - ROS1 - - MCF3 - ROS - c-ros-1 - - - gene with protein product - - - - HGNC - 10261 - - - OMIM - 165020 - - - IUPHAR - 1840 - - - SwissProt - P08922 - - - Ensembl - ENSG00000047936 - - - - - 6q22.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 10851250[PMID] - - peroxisome proliferator activated receptor gamma - PPARG - - PPARG2 - PPARgamma - NR1C3 - PPARG1 - - - gene with protein product - - - - Ensembl - ENSG00000132170 - - - Genatlas - PPARG - - - ClinVar - PPARG - - - HGNC - 9236 - - - IUPHAR - 595 - - - OMIM - 601487 - - - Reactome - P37231 - - - SwissProt - P37231 - - - - - 3p25.2 - 1 - - - - - Biomarker tested in - - - Assessed - - - - 25215581[PMID] - - NFKB inhibitor alpha - NFKBIA - - IKBA - IkappaBalpha - MAD-3 - NF-kappa-B inhibitor alpha - - - gene with protein product - - - - Ensembl - ENSG00000100906 - - - Genatlas - NFKBIA - - - HGNC - 7797 - - - OMIM - 164008 - - - Reactome - P25963 - - - SwissProt - P25963 - - - ClinVar - NFKBIA - - - - - 14q13.2 - 1 - - - - - Biomarker tested in - - - Assessed - - - - 22380407[PMID]_20556478[PMID] - - O-6-methylguanine-DNA methyltransferase - MGMT - - methylated-DNA--protein-cysteine methyltransferase - - - gene with protein product - - - - Ensembl - ENSG00000170430 - - - Genatlas - MGMT - - - HGNC - 7059 - - - OMIM - 156569 - - - Reactome - P16455 - - - SwissProt - P16455 - - - ClinVar - MGMT - - - - - 10q26.3 - 1 - - - - - Biomarker tested in - - - Assessed - - - - 24075187[PMID]_24071942[PMID] - - epidermal growth factor receptor - EGFR - - ERBB1 - erb-b2 receptor tyrosine kinase 1 - erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian) - ERRP - - - gene with protein product - - - - ClinVar - EGFR - - - Ensembl - ENSG00000146648 - - - Genatlas - EGFR - - - HGNC - 3236 - - - IUPHAR - 1797 - - - OMIM - 131550 - - - Reactome - P00533 - - - SwissProt - P00533 - - - - - 7p11.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 22837387[PMID] - - fibroblast growth factor receptor 1 - FGFR1 - - BFGFR - CD331 - CEK - FLG - H2 - H3 - H4 - H5 - N-SAM - Pfeiffer syndrome - - - gene with protein product - - - - Ensembl - ENSG00000077782 - - - Genatlas - FGFR1 - - - HGNC - 3688 - - - IUPHAR - 1808 - - - OMIM - 136350 - - - Reactome - P11362 - - - SwissProt - P11362 - - - ClinVar - FGFR1 - - - - - 8p11.23 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 22837387[PMID] - - fibroblast growth factor receptor 3 - FGFR3 - - CD333 - CEK2 - JTK4 - - - gene with protein product - - - - Ensembl - ENSG00000068078 - - - Genatlas - FGFR3 - - - HGNC - 3690 - - - IUPHAR - 1810 - - - OMIM - 134934 - - - Reactome - P22607 - - - SwissProt - P22607 - - - ClinVar - FGFR3 - - - - - 4p16.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 17785346[PMID] - - tumor protein p53 - TP53 - - LFS1 - Li-Fraumeni syndrome - P53 - p53 - - - gene with protein product - - - - Ensembl - ENSG00000141510 - - - Genatlas - TP53 - - - HGNC - 11998 - - - OMIM - 191170 - - - Reactome - P04637 - - - SwissProt - P04637 - - - ClinVar - TP53 - - - - - 17p13.1 - 1 - - - - - Biomarker tested in - - - Assessed - - - - 22837387[PMID] - - transforming acidic coiled-coil containing protein 3 - TACC3 - - ERIC1 - maskin - ERIC-1 - Tacc4 - - - gene with protein product - - - - Ensembl - ENSG00000013810 - - - Genatlas - TACC3 - - - HGNC - 11524 - - - OMIM - 605303 - - - SwissProt - Q9Y6A5 - - - ClinVar - TACC3 - - - - - 4p16.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 22837387[PMID] - - transforming acidic coiled-coil containing protein 1 - TACC1 - - - - gene with protein product - - - - Ensembl - ENSG00000147526 - - - Genatlas - TACC1 - - - HGNC - 11522 - - - OMIM - 605301 - - - SwissProt - O75410 - - - ClinVar - TACC1 - - - - - 8p11.22 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 18772396[PMID] - - isocitrate dehydrogenase (NADP(+)) 1 - IDH1 - - - - gene with protein product - - - - IUPHAR - 2884 - - - Ensembl - ENSG00000138413 - - - Genatlas - IDH1 - - - HGNC - 5382 - - - OMIM - 147700 - - - Reactome - O75874 - - - SwissProt - O75874 - - - ClinVar - IDH1 - - - - - 2q34 - 1 - - - - - Biomarker tested in - - - Assessed - - - - 24075187[PMID]_24071842[PMID] - - leucine zipper like post translational regulator 1 - LZTR1 - - BTBD29 - LZTR-1 - - - gene with protein product - - - - SwissProt - Q8N653 - - - Ensembl - ENSG00000099949 - - - Genatlas - LZTR1 - - - HGNC - 6742 - - - OMIM - 600574 - - - ClinVar - LZTR1 - - - - - 22q11.21 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 24075187[PMID]_24071942[PMID] - - septin 14 - SEPTIN14 - - Septin-14 - FLJ44060 - - - gene with protein product - - - - Ensembl - ENSG00000154997 - - - Genatlas - SEPT14 - - - HGNC - 33280 - - - OMIM - 612140 - - - SwissProt - Q6ZU15 - - - ClinVar - sept-14 - - - - - 7p11.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 251589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251589 - Anaplastic astrocytoma - - Disease - - - Disorder - - - - 24993250[PMID]_19228619[PMID]_19554337[PMID]_23109653[PMID]_24149775[PMID]_20714900[PMID]_21075857[PMID] - - isocitrate dehydrogenase (NADP(+)) 2 - IDH2 - - IDH-2 - - - gene with protein product - - - - Ensembl - ENSG00000182054 - - - Genatlas - IDH2 - - - HGNC - 5383 - - - OMIM - 147650 - - - Reactome - P48735 - - - SwissProt - P48735 - - - IUPHAR - 2885 - - - ClinVar - IDH2 - - - - - 15q26.1 - 1 - - - - - Biomarker tested in - - - Assessed - - - - - - 251598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251598 - Protoplasmic astrocytoma - - Histopathological subtype - - - Subtype of disorder - - - - 19228619[PMID]_19554337[PMID]_23109653[PMID]_24149775[PMID]_20714900[PMID]_21075857[PMID] - - isocitrate dehydrogenase (NADP(+)) 2 - IDH2 - - IDH-2 - - - gene with protein product - - - - Ensembl - ENSG00000182054 - - - Genatlas - IDH2 - - - HGNC - 5383 - - - OMIM - 147650 - - - Reactome - P48735 - - - SwissProt - P48735 - - - IUPHAR - 2885 - - - ClinVar - IDH2 - - - - - 15q26.1 - 1 - - - - - Biomarker tested in - - - Assessed - - - - - - 251604 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251604 - Gemistocytic astrocytoma - - Histopathological subtype - - - Subtype of disorder - - - - 19228619[PMID]_19554337[PMID]_23109653[PMID]_24149775[PMID]_20714900[PMID]_21075857[PMID] - - isocitrate dehydrogenase (NADP(+)) 2 - IDH2 - - IDH-2 - - - gene with protein product - - - - Ensembl - ENSG00000182054 - - - Genatlas - IDH2 - - - HGNC - 5383 - - - OMIM - 147650 - - - Reactome - P48735 - - - SwissProt - P48735 - - - IUPHAR - 2885 - - - ClinVar - IDH2 - - - - - 15q26.1 - 1 - - - - - Biomarker tested in - - - Assessed - - - - - - 251601 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251601 - Fibrillary astrocytoma - - Histopathological subtype - - - Subtype of disorder - - - - 19228619[PMID]_19554337[PMID]_23109653[PMID]_24149775[PMID]_20714900[PMID]_21075857[PMID] - - isocitrate dehydrogenase (NADP(+)) 2 - IDH2 - - IDH-2 - - - gene with protein product - - - - Ensembl - ENSG00000182054 - - - Genatlas - IDH2 - - - HGNC - 5383 - - - OMIM - 147650 - - - Reactome - P48735 - - - SwissProt - P48735 - - - IUPHAR - 2885 - - - ClinVar - IDH2 - - - - - 15q26.1 - 1 - - - - - Biomarker tested in - - - Assessed - - - - - - 251615 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251615 - Pilomyxoid astrocytoma - - Histopathological subtype - - - Subtype of disorder - - - - 22159586[PMID]_21190184[PMID] - - B-Raf proto-oncogene, serine/threonine kinase - BRAF - - BRAF1 - BRAF-1 - - - gene with protein product - - - - Ensembl - ENSG00000157764 - - - Genatlas - BRAF - - - HGNC - 1097 - - - IUPHAR - 1943 - - - OMIM - 164757 - - - Reactome - P15056 - - - SwissProt - P15056 - - - ClinVar - BRAF - - - - - 7q34 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 22159586[PMID]_18974108[PMID] - - B-Raf proto-oncogene, serine/threonine kinase - BRAF - - BRAF1 - BRAF-1 - - - gene with protein product - - - - Ensembl - ENSG00000157764 - - - Genatlas - BRAF - - - HGNC - 1097 - - - IUPHAR - 1943 - - - OMIM - 164757 - - - Reactome - P15056 - - - SwissProt - P15056 - - - ClinVar - BRAF - - - - - 7q34 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 22159586[PMID]_19363522[PMID] - - Raf-1 proto-oncogene, serine/threonine kinase - RAF1 - - C-Raf proto-oncogene, serine/threonine kinase - CRAF - Raf-1 - c-Raf - - - gene with protein product - - - - ClinVar - RAF1 - - - Ensembl - ENSG00000132155 - - - Genatlas - RAF1 - - - HGNC - 9829 - - - IUPHAR - 2184 - - - OMIM - 164760 - - - Reactome - P04049 - - - SwissProt - P04049 - - - - - 3p25.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 23817572[PMID] - - fibroblast growth factor receptor 1 - FGFR1 - - BFGFR - CD331 - CEK - FLG - H2 - H3 - H4 - H5 - N-SAM - Pfeiffer syndrome - - - gene with protein product - - - - Ensembl - ENSG00000077782 - - - Genatlas - FGFR1 - - - HGNC - 3688 - - - IUPHAR - 1808 - - - OMIM - 136350 - - - Reactome - P11362 - - - SwissProt - P11362 - - - ClinVar - FGFR1 - - - - - 8p11.23 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 22159586[PMID]_19363522[PMID] - - SLIT-ROBO Rho GTPase activating protein 3 - SRGAP3 - - ARHGAP14 - KIAA0411 - MEGAP - WRP - - - gene with protein product - - - - Ensembl - ENSG00000196220 - - - Genatlas - SRGAP3 - - - HGNC - 19744 - - - OMIM - 606525 - - - Reactome - O43295 - - - SwissProt - O43295 - - - ClinVar - SRGAP3 - - - - - 3p25.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 23817572[PMID] - - neurotrophic receptor tyrosine kinase 2 - NTRK2 - - TRKB - BDNF/NT-3 growth factors receptor - - - gene with protein product - - - - Genatlas - NTRK2 - - - HGNC - 8032 - - - IUPHAR - 1818 - - - OMIM - 600456 - - - Reactome - Q16620 - - - SwissProt - Q16620 - - - Ensembl - ENSG00000148053 - - - ClinVar - NTRK2 - - - - - 9q21.33 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 22159586[PMID]_18974108[PMID] - - KIAA1549 - KIAA1549 - - - - gene with protein product - - - - Reactome - Q9HCM3 - - - SwissProt - Q9HCM3 - - - ClinVar - KIAA1549 - - - Ensembl - ENSG00000122778 - - - Genatlas - KIAA1549 - - - HGNC - 22219 - - - OMIM - 613344 - - - - - 7q34 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 22159586[PMID]_21424530[PMID]_19373855[PMID] - - KRAS proto-oncogene, GTPase - KRAS - - KRAS1 - K-Ras4B - - - gene with protein product - - - - IUPHAR - 2824 - - - ClinVar - KRAS - - - Ensembl - ENSG00000133703 - - - Genatlas - KRAS - - - HGNC - 6407 - - - OMIM - 190070 - - - Reactome - P01116 - - - SwissProt - P01116 - - - - - 12p12.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 251627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251627 - Oligodendroglioma - - Disease - - - Disorder - - - - 23681562[PMID]_19228619[PMID]_19554337[PMID]_23109653[PMID]_24149775[PMID]_20714900[PMID]_21075857[PMID] - - isocitrate dehydrogenase (NADP(+)) 2 - IDH2 - - IDH-2 - - - gene with protein product - - - - Ensembl - ENSG00000182054 - - - Genatlas - IDH2 - - - HGNC - 5383 - - - OMIM - 147650 - - - Reactome - P48735 - - - SwissProt - P48735 - - - IUPHAR - 2885 - - - ClinVar - IDH2 - - - - - 15q26.1 - 1 - - - - - Biomarker tested in - - - Assessed - - - - 25482530[PMID] - - protection of telomeres 1 - POT1 - - DKFZp586D211 - hPot1 - - - gene with protein product - - - - Ensembl - ENSG00000128513 - - - Genatlas - POT1 - - - HGNC - 17284 - - - OMIM - 606478 - - - Reactome - Q9NUX5 - - - SwissProt - Q9NUX5 - - - ClinVar - POT1 - - - - - 7q31.33 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 2169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2169 - Methylcobalamin deficiency type cblE - - Clinical subtype - - - Subtype of disorder - - - - 20301503[PMID] - - 5-methyltetrahydrofolate-homocysteine methyltransferase reductase - MTRR - - Methionine synthase reductase - cblE - - - gene with protein product - - - - ClinVar - MTRR - - - Ensembl - ENSG00000124275 - - - Genatlas - MTRR - - - HGNC - 7473 - - - OMIM - 602568 - - - Reactome - Q9UBK8 - - - SwissProt - Q9UBK8 - - - - - 5p15.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2228 - Hypodontia-dysplasia of nails syndrome - - Malformation syndrome - - - Disorder - - - - 11369996[PMID] - - msh homeobox 1 - MSX1 - - HYD1 - OFC5 - - - gene with protein product - - - - ClinVar - MSX1 - - - HGNC - 7391 - - - OMIM - 142983 - - - SwissProt - P28360 - - - Ensembl - ENSG00000163132 - - - Genatlas - MSX1 - - - - - 4p16.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2224 - Hypertryptophanemia - - Disease - - - Disorder - - - - 28285122[PMID] - - tryptophan 2,3-dioxygenase - TDO2 - - TDO - TPH2 - - - gene with protein product - - - - HGNC - 11708 - - - Genatlas - TDO2 - - - Ensembl - ENSG00000151790 - - - SwissProt - P48775 - - - OMIM - 191070 - - - IUPHAR - 2887 - - - Reactome - P48775 - - - ClinVar - TDO2 - - - - - 4q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2229 - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - - Malformation syndrome - - - Disorder - - - - 19283854[PMID] - - lamin A/C - LMNA - - HGPS - MADA - mandibuloacral dysplasia type A - progerin - - - gene with protein product - - - - ClinVar - LMNA - - - Ensembl - ENSG00000160789 - - - Genatlas - LMNA - - - HGNC - 6636 - - - OMIM - 150330 - - - Reactome - P02545 - - - SwissProt - P02545 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2237 - Hypoparathyroidism-sensorineural deafness-renal disease syndrome - - Malformation syndrome - - - Disorder - - - - 10935639[PMID]_21120445[PMID]_23757620[PMID] - - GATA binding protein 3 - GATA3 - - HDR - - - gene with protein product - - - - ClinVar - GATA3 - - - Ensembl - ENSG00000107485 - - - Genatlas - GATA3 - - - HGNC - 4172 - - - OMIM - 131320 - - - Reactome - P23771 - - - SwissProt - P23771 - - - - - 10p14 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2199 - Epidermolytic palmoplantar keratoderma - - Disease - - - Disorder - - - - 16439967[PMID] - - keratin 1 - KRT1 - - KRT1A - - - gene with protein product - - - - Ensembl - ENSG00000167768 - - - Genatlas - KRT1 - - - HGNC - 6412 - - - OMIM - 139350 - - - SwissProt - P04264 - - - ClinVar - KRT1 - - - Reactome - P04264 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 12192490[PMID]_12072061[PMID]_23397986[PMID]_24899405[PMID] - - keratin 9 - KRT9 - - CK-9 - EPPK - K9 - cytokeratin 9 - epidermolytic palmoplantar keratoderma - type I cytoskeletal 9 - - - gene with protein product - - - - Reactome - P35527 - - - Ensembl - ENSG00000171403 - - - Genatlas - KRT9 - - - HGNC - 6447 - - - OMIM - 607606 - - - SwissProt - P35527 - - - ClinVar - KRT9 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 8595410[PMID] - - keratin 16 - KRT16 - - NEPPK - focal non-epidermolytic palmoplantar keratoderma - - - gene with protein product - - - - ClinVar - KRT16 - - - Ensembl - ENSG00000186832 - - - Genatlas - KRT16 - - - HGNC - 6423 - - - OMIM - 148067 - - - SwissProt - P08779 - - - Reactome - P08779 - - - - - 17q21.2 - 1 - - - - - Candidate gene tested in - - - Assessed - - - - - - 251863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251863 - Desmoplastic/nodular medulloblastoma - - Histopathological subtype - - - Subtype of disorder - - - - 21188540[PMID]_22508808[PMID]_12068298[PMID]_19833601[PMID] - - SUFU negative regulator of hedgehog signaling - SUFU - - PRO1280 - SUFUH - SUFUXL - - - gene with protein product - - - - Reactome - Q9UMX1 - - - SwissProt - Q9UMX1 - - - Ensembl - ENSG00000107882 - - - Genatlas - SUFU - - - HGNC - 16466 - - - OMIM - 607035 - - - ClinVar - SUFU - - - - - 10q24.32 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 2198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2198 - Palmoplantar keratoderma-esophageal carcinoma syndrome - - Disease - - - Disorder - - - - 22265016[PMID] - - rhomboid 5 homolog 2 - RHBDF2 - - FLJ22341 - RHBDL5 - TOCG - iRhom2 - - - gene with protein product - - - - Ensembl - ENSG00000129667 - - - Genatlas - RHBDF2 - - - HGNC - 20788 - - - OMIM - 614404 - - - SwissProt - Q6PJF5 - - - ClinVar - RHBDF2 - - - - - 17q25.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 251858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251858 - Medulloblastoma with extensive nodularity - - Histopathological subtype - - - Subtype of disorder - - - - 21188540[PMID]_22508808[PMID]_12068298[PMID]_19833601[PMID] - - SUFU negative regulator of hedgehog signaling - SUFU - - PRO1280 - SUFUH - SUFUXL - - - gene with protein product - - - - Reactome - Q9UMX1 - - - SwissProt - Q9UMX1 - - - Ensembl - ENSG00000107882 - - - Genatlas - SUFU - - - HGNC - 16466 - - - OMIM - 607035 - - - ClinVar - SUFU - - - - - 10q24.32 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 2202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2202 - Palmoplantar keratoderma-deafness syndrome - - Disease - - - Disorder - - - - 10633135[PMID]_17993581[PMID] - - gap junction protein beta 2 - GJB2 - - CX26 - NSRD1 - connexin 26 - - - gene with protein product - - - - ClinVar - GJB2 - - - Ensembl - ENSG00000165474 - - - Genatlas - GJB2 - - - HGNC - 4284 - - - OMIM - 121011 - - - Reactome - P29033 - - - SwissProt - P29033 - - - IUPHAR - 716 - - - - - 13q12.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 9450881[PMID]_11069477[PMID] - - mitochondrially encoded tRNA-Ser (UCN) 1 - MT-TS1 - - TRNS1 - - - Non-coding RNA - - - - Ensembl - ENSG00000210151 - - - Genatlas - MT-TS1 - - - HGNC - 7497 - - - OMIM - 590080 - - - ClinVar - MT-TS1 - - - SwissProt - - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 251899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251899 - Choroid plexus carcinoma - - Disease - - - Disorder - - - - 21445348[PMID] - - tumor protein p53 - TP53 - - LFS1 - Li-Fraumeni syndrome - P53 - p53 - - - gene with protein product - - - - Ensembl - ENSG00000141510 - - - Genatlas - TP53 - - - HGNC - 11998 - - - OMIM - 191170 - - - Reactome - P04637 - - - SwissProt - P04637 - - - ClinVar - TP53 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 251019 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251019 - 2q32q33 deletion syndrome - - Malformation syndrome - - - Disorder - - - - 16179223[PMID] - - SATB homeobox 2 - SATB2 - - FLJ21474 - KIAA1034 - - - gene with protein product - - - - Reactome - Q9UPW6 - - - Ensembl - ENSG00000119042 - - - Genatlas - SATB2 - - - HGNC - 21637 - - - OMIM - 608148 - - - SwissProt - Q9UPW6 - - - ClinVar - SATB2 - - - - - 2q33.1 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 251028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251028 - SATB2-associated syndrome due to a chromosomal rearrangement - - Etiological subtype - - - Subtype of disorder - - - - 19668335[PMID]_21343628[PMID] - - SATB homeobox 2 - SATB2 - - FLJ21474 - KIAA1034 - - - gene with protein product - - - - Reactome - Q9UPW6 - - - Ensembl - ENSG00000119042 - - - Genatlas - SATB2 - - - HGNC - 21637 - - - OMIM - 608148 - - - SwissProt - Q9UPW6 - - - ClinVar - SATB2 - - - - - 2q33.1 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672 - Pallister-Hall syndrome - - Malformation syndrome - - - Disorder - - - - 20301638[PMID] - - GLI family zinc finger 3 - GLI3 - - ACLS - DNA-binding protein - PAP-A - PAPA - PAPA1 - PAPB - PPDIV - oncogene GLI3 - zinc finger protein GLI3 - - - gene with protein product - - - - Ensembl - ENSG00000106571 - - - ClinVar - GLI3 - - - Genatlas - GLI3 - - - HGNC - 4319 - - - OMIM - 165240 - - - Reactome - P10071 - - - SwissProt - P10071 - - - - - 7p14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=455 - Superficial epidermolytic ichthyosis - - Disease - - - Disorder - - - - 15949009[PMID] - - keratin 2 - KRT2 - - KRTE - epidermal ichthyosis bullosa of Siemens - - - gene with protein product - - - - ClinVar - KRT2 - - - Ensembl - ENSG00000172867 - - - Genatlas - KRT2 - - - HGNC - 6439 - - - OMIM - 600194 - - - SwissProt - P35908 - - - Reactome - P35908 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 251061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251061 - 7q31 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - 17330859[PMID]_22144704[PMID] - - forkhead box P2 - FOXP2 - - CAG repeat protein 44 - CAGH44 - forkhead/winged-helix transcription factor - speech and language disorder 1 - trinucleotide repeat containing 10 - - - gene with protein product - - - - ClinVar - FOXP2 - - - Ensembl - ENSG00000128573 - - - Genatlas - FOXP2 - - - HGNC - 13875 - - - OMIM - 605317 - - - SwissProt - O15409 - - - Reactome - O15409 - - - - - 7q31.1 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 251066 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251066 - 8p11.2 deletion syndrome - - Malformation syndrome - - - Disorder - - - - 22771917[PMID] - - ankyrin 1 - ANK1 - - SPH1 - - - gene with protein product - - - - ClinVar - ANK1 - - - Ensembl - ENSG00000029534 - - - Genatlas - ANK1 - - - HGNC - 492 - - - OMIM - 612641 - - - Reactome - P16157 - - - SwissProt - P16157 - - - - - 8p11.21 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 251071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251071 - 8p23.1 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - 10090897[PMID]_19606479[PMID] - - GATA binding protein 4 - GATA4 - - - - gene with protein product - - - - ClinVar - GATA4 - - - Ensembl - ENSG00000136574 - - - Genatlas - GATA4 - - - HGNC - 4173 - - - OMIM - 600576 - - - Reactome - P43694 - - - SwissProt - P43694 - - - - - 8p23.1 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 2273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2273 - Ichthyosis follicularis-alopecia-photophobia syndrome - - Disease - - - Disorder - - - - 21600032[PMID] - - membrane bound transcription factor peptidase, site 2 - MBTPS2 - - sterol regulatory element-binding proteins intramembrane protease - S2P - site-2 protease - - - gene with protein product - - - - Ensembl - ENSG00000012174 - - - Genatlas - MBTPS2 - - - HGNC - 15455 - - - OMIM - 300294 - - - Reactome - O43462 - - - SwissProt - O43462 - - - ClinVar - MBTPS2 - - - - - Xp22.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139 - CHILD syndrome - - Disease - - - Disorder - - - - 10710235[PMID]_11907515[PMID] - - NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL - NSDHL - - H105e3 - SDR31E1 - XAP104 - short chain dehydrogenase/reductase family 31E, member 1 - 3-beta-hydroxysteroid dehydrogenase - 3beta-hydroxysteroid-4alpha-carboxylate 3-dehydrogenase (decarboxylating) - - - gene with protein product - - - - IUPHAR - 3297 - - - ClinVar - NSDHL - - - Ensembl - ENSG00000147383 - - - Genatlas - NSDHL - - - HGNC - 13398 - - - OMIM - 300275 - - - Reactome - Q15738 - - - SwissProt - Q15738 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457 - Harlequin ichthyosis - - Disease - - - Disorder - - - - 20301593[PMID]_19179616[PMID] - - ATP binding cassette subfamily A member 12 - ABCA12 - - DKFZP434G232 - LI2 - - - gene with protein product - - - - HGNC - 14637 - - - IUPHAR - 766 - - - OMIM - 607800 - - - Reactome - Q86UK0 - - - SwissProt - Q86UK0 - - - Ensembl - ENSG00000144452 - - - Genatlas - ABCA12 - - - ClinVar - ABCA12 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 251056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251056 - 6q25.2q25.3 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - 22405089[PMID] - - AT-rich interaction domain 1B - ARID1B - - 6A3-5 - BAF250b - DAN15 - ELD/OSA1 - KIAA1235 - p250R - SMARCF2 - - - gene with protein product - - - - Ensembl - ENSG00000049618 - - - Genatlas - ARID1B - - - HGNC - 18040 - - - OMIM - 614556 - - - Reactome - Q8NFD5 - - - SwissProt - Q8NFD5 - - - ClinVar - ARID1B - - - - - 6q25.3 - 1 - - - - - Role in the phenotype of - - - Not yet assessed - - - - - - 2239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2239 - Familial isolated hypoparathyroidism due to agenesis of parathyroid gland - - Clinical subtype - - - Subtype of disorder - - - - 11602629[PMID] - - glial cells missing transcription factor 2 - GCM2 - - hGCMb - - - gene with protein product - - - - ClinVar - GCM2 - - - HGNC - 4198 - - - OMIM - 603716 - - - SwissProt - O75603 - - - Ensembl - ENSG00000124827 - - - Genatlas - GCM2 - - - Reactome - O75603 - - - - - 6p24.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2241 - Megacystis-microcolon-intestinal hypoperistalsis syndrome - - Malformation syndrome - - - Disorder - - - - 28292896[PMID] - - leiomodin 1 - LMOD1 - - 1D - D1 - 64kD - SM-LMOD - SMLMOD - - - gene with protein product - - - - HGNC - 6647 - - - Ensembl - ENSG00000163431 - - - SwissProt - P29536 - - - OMIM - 602715 - - - Genatlas - LMOD1 - - - Reactome - P29536 - - - ClinVar - LMOD1 - - - - - 1q32.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25407000[PMID] - - myosin heavy chain 11 - MYH11 - - SMHC - SMMHC - SMMS-1 - - - gene with protein product - - - - ClinVar - MYH11 - - - Ensembl - ENSG00000133392 - - - Genatlas - MYH11 - - - HGNC - 7569 - - - OMIM - 160745 - - - Reactome - P35749 - - - SwissProt - P35749 - - - - - 16p13.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24676022[PMID] - - actin gamma 2, smooth muscle - ACTG2 - - ACTSG - - - gene with protein product - - - - Ensembl - ENSG00000163017 - - - Genatlas - ACTG2 - - - HGNC - 145 - - - OMIM - 102545 - - - Reactome - P63267 - - - SwissProt - P63267 - - - ClinVar - ACTG2 - - - - - 2p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28602422[PMID] - - myosin light chain kinase - MYLK - - KRP - MLCK108 - MLCK210 - MLCK - MLCK1 - MYLK1 - smMLCK - smooth muscle myosin light chain kinase - kinase related protein - Telokin - MYLK-L - - - gene with protein product - - - - Ensembl - ENSG00000065534 - - - Genatlas - MYLK - - - HGNC - 7590 - - - IUPHAR - 1552 - - - OMIM - 600922 - - - Reactome - Q15746 - - - SwissProt - Q15746 - - - ClinVar - MYLK - - - - - 3q21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 250984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984 - Autosomal recessive Stickler syndrome - - Clinical subtype - - - Subtype of disorder - - - - - - collagen type IX alpha 1 chain - COL9A1 - - - - gene with protein product - - - - ClinVar - COL9A1 - - - Ensembl - ENSG00000112280 - - - Genatlas - COL9A1 - - - HGNC - 2217 - - - OMIM - 120210 - - - Reactome - P20849 - - - SwissProt - P20849 - - - - - 6q13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21671392[PMID] - - collagen type IX alpha 2 chain - COL9A2 - - MED - - - gene with protein product - - - - ClinVar - COL9A2 - - - Ensembl - ENSG00000049089 - - - Genatlas - COL9A2 - - - HGNC - 2218 - - - OMIM - 120260 - - - Reactome - Q14055 - - - SwissProt - Q14055 - - - - - 1p34.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24273071[PMID] - - collagen type IX alpha 3 chain - COL9A3 - - DJ885L7.4.1 - EDM3 - FLJ90759 - IDD - MED - collagen type IX proteoglycan - - - gene with protein product - - - - ClinVar - COL9A3 - - - Ensembl - ENSG00000092758 - - - Genatlas - COL9A3 - - - HGNC - 2219 - - - OMIM - 120270 - - - Reactome - Q14050 - - - SwissProt - Q14050 - - - - - 20q13.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25663169[PMID] - - lysyl oxidase like 3 - LOXL3 - - - - gene with protein product - - - - HGNC - 13869 - - - - - 2p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 250977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250977 - AICA-ribosiduria - - Disease - - - Disorder - - - - 15114530[PMID] - - 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase - ATIC - - AICARFT - IMPCHASE - PURH - phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase - - - gene with protein product - - - - ClinVar - ATIC - - - Genatlas - ATIC - - - HGNC - 794 - - - OMIM - 601731 - - - Reactome - P31939 - - - SwissProt - P31939 - - - Ensembl - ENSG00000138363 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2250 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2250 - Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome - - Disease - - - Disorder - - - - 28067911[PMID]_28067909[PMID] - - structural maintenance of chromosomes flexible hinge domain containing 1 - SMCHD1 - - FSHD2 - KIAA0650 - - - gene with protein product - - - - Ensembl - ENSG00000101596 - - - Genatlas - SMCHD1 - - - HGNC - 29090 - - - OMIM - 614982 - - - SwissProt - A6NHR9 - - - ClinVar - SMCHD1 - - - - - 18p11.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 250923 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250923 - Isolated aniridia - - Morphological anomaly - - - Disorder - - - - 20301534[PMID]_9138149[PMID] - - paired box 6 - PAX6 - - AN - D11S812E - WAGR - aniridia, keratitis - Aniridia 1 - Aniridia 2 - - - gene with protein product - - - - Ensembl - ENSG00000007372 - - - Genatlas - PAX6 - - - HGNC - 8620 - - - OMIM - 607108 - - - Reactome - P26367 - - - SwissProt - P26367 - - - ClinVar - PAX6 - - - - - 11p13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 26394807[PMID] - - tripartite motif containing 44 - TRIM44 - - DIPB - MC7 - - - gene with protein product - - - - Reactome - Q96DX7 - - - Ensembl - ENSG00000166326 - - - Genatlas - TRIM44 - - - HGNC - 19016 - - - OMIM - 612298 - - - SwissProt - Q96DX7 - - - ClinVar - TRIM44 - - - - - 11p13 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 19279310[PMID]_27124303[PMID] - - forkhead box C1 - FOXC1 - - ARA - FREAC3 - IGDA - IHG1 - - - gene with protein product - - - - OMIM - 601090 - - - SwissProt - Q12948 - - - Ensembl - ENSG00000054598 - - - Genatlas - FOXC1 - - - HGNC - 3800 - - - ClinVar - FOXC1 - - - Reactome - Q12948 - - - - - 6p25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 250972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250972 - Polymicrogyria with optic nerve hypoplasia - - Malformation syndrome - - - Disorder - - - - 19896110[PMID] - - tubulin alpha 8 - TUBA8 - - - - gene with protein product - - - - ClinVar - TUBA8 - - - Ensembl - ENSG00000183785 - - - Genatlas - TUBA8 - - - HGNC - 12410 - - - OMIM - 605742 - - - Reactome - Q9NY65 - - - SwissProt - Q9NY65 - - - - - 22q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2255 - Pancreatic hypoplasia-diabetes-congenital heart disease syndrome - - Disease - - - Disorder - - - - 22158542[PMID]_22962692[PMID] - - GATA binding protein 6 - GATA6 - - - - gene with protein product - - - - Ensembl - ENSG00000141448 - - - Genatlas - GATA6 - - - HGNC - 4174 - - - OMIM - 601656 - - - Reactome - Q92908 - - - SwissProt - Q92908 - - - ClinVar - GATA6 - - - - - 18q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 251380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251380 - Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome - - Disease - - - Disorder - - - - 20301551[PMID] - - hemoglobin subunit beta - HBB - - CD113t-C - beta-globin - - - gene with protein product - - - - ClinVar - HBB - - - HGNC - 4827 - - - OMIM - 141900 - - - Reactome - P68871 - - - SwissProt - P68871 - - - Ensembl - ENSG00000244734 - - - Genatlas - HBB - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - BCL11 transcription factor A - BCL11A - - BCL11A-L - BCL11A-S - BCL11A-XL - CTIP1 - HBFQTL5 - ZNF856 - SMARCM1 - - - gene with protein product - - - - Ensembl - ENSG00000119866 - - - Genatlas - BCL11A - - - HGNC - 13221 - - - OMIM - 606557 - - - SwissProt - Q9H165 - - - ClinVar - BCL11A - - - - - 2p16.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 8598197[PMID]_2468996[PMID] - - hemoglobin subunit gamma 1 - HBG1 - - HBG-T2 - fetal hemoglobin F subunit gamma 1 - - - gene with protein product - - - - Ensembl - ENSG00000213934 - - - Genatlas - HBG1 - - - HGNC - 4831 - - - OMIM - 142200 - - - Reactome - P69891 - - - SwissProt - P69891 - - - ClinVar - HBG1 - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 8598197[PMID]_2468996[PMID] - - hemoglobin subunit gamma 2 - HBG2 - - HBG-T1 - fetal hemoglobin F subunit gamma 2 - - - gene with protein product - - - - Ensembl - ENSG00000196565 - - - Genatlas - HBG2 - - - HGNC - 4832 - - - OMIM - 142250 - - - Reactome - P69892 - - - SwissProt - P69892 - - - ClinVar - HBG2 - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20676099[PMID] - - KLF transcription factor 1 - KLF1 - - EKLF - erythroid Kruppel-like factor - - - gene with protein product - - - - Ensembl - ENSG00000105610 - - - Genatlas - KLF1 - - - HGNC - 6345 - - - OMIM - 600599 - - - SwissProt - Q13351 - - - ClinVar - KLF1 - - - - - 19p13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 251383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251383 - CK syndrome - - Malformation syndrome - - - Disorder - - - - 21129721[PMID]_21290788[PMID] - - NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL - NSDHL - - H105e3 - SDR31E1 - XAP104 - short chain dehydrogenase/reductase family 31E, member 1 - 3-beta-hydroxysteroid dehydrogenase - 3beta-hydroxysteroid-4alpha-carboxylate 3-dehydrogenase (decarboxylating) - - - gene with protein product - - - - IUPHAR - 3297 - - - ClinVar - NSDHL - - - Ensembl - ENSG00000147383 - - - Genatlas - NSDHL - - - HGNC - 13398 - - - OMIM - 300275 - - - Reactome - Q15738 - - - SwissProt - Q15738 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 251370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251370 - Sickle cell S-D Punjab disease - - Clinical subtype - - - Subtype of disorder - - - - 20301551[PMID] - - hemoglobin subunit beta - HBB - - CD113t-C - beta-globin - - - gene with protein product - - - - ClinVar - HBB - - - HGNC - 4827 - - - OMIM - 141900 - - - Reactome - P68871 - - - SwissProt - P68871 - - - Ensembl - ENSG00000244734 - - - Genatlas - HBB - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 251375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251375 - Sickle cell S-E disease - - Clinical subtype - - - Subtype of disorder - - - - 20301551[PMID] - - hemoglobin subunit beta - HBB - - CD113t-C - beta-globin - - - gene with protein product - - - - ClinVar - HBB - - - HGNC - 4827 - - - OMIM - 141900 - - - Reactome - P68871 - - - SwissProt - P68871 - - - Ensembl - ENSG00000244734 - - - Genatlas - HBB - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 251365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251365 - Sickle cell S-C disease - - Disease - - - Disorder - - - - 20301551[PMID] - - hemoglobin subunit beta - HBB - - CD113t-C - beta-globin - - - gene with protein product - - - - ClinVar - HBB - - - HGNC - 4827 - - - OMIM - 141900 - - - Reactome - P68871 - - - SwissProt - P68871 - - - Ensembl - ENSG00000244734 - - - Genatlas - HBB - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2319 - Juberg-Hayward syndrome - - Malformation syndrome - - - Disorder - - - - 32977150[PMID] - - establishment of sister chromatid cohesion N-acetyltransferase 2 - ESCO2 - - EFO2 - - - gene with protein product - - - - Ensembl - ENSG00000171320 - - - Genatlas - ESCO2 - - - HGNC - 27230 - - - OMIM - 609353 - - - Reactome - Q56NI9 - - - SwissProt - Q56NI9 - - - ClinVar - ESCO2 - - - - - 8p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 251523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251523 - Hyperzincemia and hypercalprotectinemia - - Disease - - - Disorder - - - - 26025129[PMID] - - proline-serine-threonine phosphatase interacting protein 1 - PSTPIP1 - - PEST phosphatase-interacting protein 1 - PSTPIP - CD2 antigen-binding protein 1 - CD2 cytoplasmic tail-binding protein - CD2BP1 - CD2BP1L - CD2BP1S - H-PIP - PAPAS - - - gene with protein product - - - - ClinVar - PSTPIP1 - - - Ensembl - ENSG00000140368 - - - Genatlas - PSTPIP1 - - - HGNC - 9580 - - - OMIM - 606347 - - - Reactome - O43586 - - - SwissProt - O43586 - - - - - 15q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315 - Johanson-Blizzard syndrome - - Malformation syndrome - - - Disorder - - - - 21931868[PMID]_16311597[PMID]_23652379[PMID] - - ubiquitin protein ligase E3 component n-recognin 1 - UBR1 - - - - gene with protein product - - - - ClinVar - UBR1 - - - Ensembl - ENSG00000159459 - - - Genatlas - UBR1 - - - HGNC - 16808 - - - OMIM - 605981 - - - Reactome - Q8IWV7 - - - SwissProt - Q8IWV7 - - - - - 15q15.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 251510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251510 - 46,XY partial gonadal dysgenesis - - Malformation syndrome - - - Disorder - - - - 31337883[PMID] - - DEAH-box helicase 37 - DHX37 - - KIAA1517 - MGC4322 - MGC2695 - Dhr1 - - - gene with protein product - - - - HGNC - 17210 - - - Ensembl - ENSG00000150990 - - - SwissProt - Q8IY37 - - - Reactome - Q8IY37 - - - OMIM - 617362 - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25613702[PMID] - - WT1 transcription factor - WT1 - - AWT1 - NPHS4 - WAGR - WIT-2 - WT-1 - - - gene with protein product - - - - ClinVar - WT1 - - - Ensembl - ENSG00000184937 - - - Genatlas - WT1 - - - HGNC - 12796 - - - OMIM - 607102 - - - SwissProt - P19544 - - - Reactome - P19544 - - - - - 11p13 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 22051515[PMID] - - SRY-box transcription factor 9 - SOX9 - - SRA1 - - - gene with protein product - - - - Ensembl - ENSG00000125398 - - - Genatlas - SOX9 - - - HGNC - 11204 - - - OMIM - 608160 - - - Reactome - P48436 - - - SwissProt - P48436 - - - ClinVar - SOX9 - - - - - 17q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17493621[PMID] - - sex determining region Y - SRY - - TDF - testis-determining factor - - - gene with protein product - - - - Ensembl - ENSG00000184895 - - - Genatlas - SRY - - - HGNC - 11311 - - - OMIM - 480000 - - - Reactome - Q05066 - - - SwissProt - Q05066 - - - ClinVar - SRY - - - - - Yp11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22071891[PMID] - - WW domain containing oxidoreductase - WWOX - - WOX1 - short chain dehydrogenase/reductase family 41C, member 1 - FOR - SDR41C1 - - - gene with protein product - - - - Ensembl - ENSG00000186153 - - - Genatlas - WWOX - - - HGNC - 12799 - - - OMIM - 605131 - - - Reactome - Q9NZC7 - - - SwissProt - Q9NZC7 - - - ClinVar - WWOX - - - - - 16q23.1-q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24549039[PMID] - - zinc finger protein, FOG family member 2 - ZFPM2 - - FOG2 - ZC2HC11B - ZNF89B - hFOG-2 - - - gene with protein product - - - - ClinVar - ZFPM2 - - - Ensembl - ENSG00000169946 - - - Genatlas - ZFPM2 - - - HGNC - 16700 - - - OMIM - 603693 - - - Reactome - Q8WW38 - - - SwissProt - Q8WW38 - - - - - 8q23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21220346[PMID] - - GATA binding protein 4 - GATA4 - - - - gene with protein product - - - - ClinVar - GATA4 - - - Ensembl - ENSG00000136574 - - - Genatlas - GATA4 - - - HGNC - 4173 - - - OMIM - 600576 - - - Reactome - P43694 - - - SwissProt - P43694 - - - - - 8p23.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 18384427[PMID] - - nuclear receptor subfamily 0 group B member 1 - NR0B1 - - AHCH - DAX1 - - - gene with protein product - - - - ClinVar - NR0B1 - - - IUPHAR - 635 - - - OMIM - 300473 - - - Reactome - P51843 - - - SwissProt - P51843 - - - Ensembl - ENSG00000169297 - - - Genatlas - NR0B1 - - - HGNC - 7960 - - - - - Xp21.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 25580123[PMID] - - nuclear receptor subfamily 5 group A member 1 - NR5A1 - - AD4BP - ELP - FTZ1 - SF-1 - hSF-1 - steroidogenic factor 1 - SF1 - - - gene with protein product - - - - ClinVar - NR5A1 - - - Ensembl - ENSG00000136931 - - - Genatlas - NR5A1 - - - HGNC - 7983 - - - IUPHAR - 632 - - - OMIM - 184757 - - - Reactome - Q13285 - - - SwissProt - Q13285 - - - - - 9q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21129722[PMID] - - mitogen-activated protein kinase kinase kinase 1 - MAP3K1 - - MAPKKK1 - MEKK - - - gene with protein product - - - - ClinVar - MAP3K1 - - - Ensembl - ENSG00000095015 - - - Genatlas - MAP3K1 - - - HGNC - 6848 - - - IUPHAR - 2069 - - - OMIM - 600982 - - - Reactome - Q13233 - - - SwissProt - Q13233 - - - - - 5q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24880616[PMID] - - vesicle associated membrane protein 7 - VAMP7 - - TI-VAMP - VAMP-7 - - - gene with protein product - - - - Ensembl - ENSG00000124333 - - - Genatlas - VAMP7 - - - HGNC - 11486 - - - OMIM - 300053 - - - Reactome - P51809 - - - SwissProt - P51809 - - - ClinVar - VAMP7 - - - - - Xq28 and Yq12 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 2309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2309 - Pachyonychia congenita - - Disease - - - Disorder - - - - 20301457[PMID] - - keratin 16 - KRT16 - - NEPPK - focal non-epidermolytic palmoplantar keratoderma - - - gene with protein product - - - - ClinVar - KRT16 - - - Ensembl - ENSG00000186832 - - - Genatlas - KRT16 - - - HGNC - 6423 - - - OMIM - 148067 - - - SwissProt - P08779 - - - Reactome - P08779 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301457[PMID] - - keratin 17 - KRT17 - - - - gene with protein product - - - - Ensembl - ENSG00000128422 - - - Genatlas - KRT17 - - - HGNC - 6427 - - - OMIM - 148069 - - - SwissProt - Q04695 - - - ClinVar - KRT17 - - - Reactome - Q04695 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301457[PMID] - - keratin 6A - KRT6A - - CK6C - CK6D - K6C - K6D - - - gene with protein product - - - - ClinVar - KRT6A - - - Ensembl - ENSG00000205420 - - - Genatlas - KRT6A - - - HGNC - 6443 - - - OMIM - 148041 - - - SwissProt - P02538 - - - Reactome - P02538 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301457[PMID] - - keratin 6B - KRT6B - - - - gene with protein product - - - - ClinVar - KRT6B - - - Ensembl - ENSG00000185479 - - - Genatlas - KRT6B - - - HGNC - 6444 - - - OMIM - 148042 - - - SwissProt - P04259 - - - Reactome - P04259 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 251393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251393 - Localized junctional epidermolysis bullosa - - Disease - - - Disorder - - - - - - collagen type XVII alpha 1 chain - COL17A1 - - BP180 - - - gene with protein product - - - - ClinVar - COL17A1 - - - Ensembl - ENSG00000065618 - - - Genatlas - COL17A1 - - - HGNC - 2194 - - - OMIM - 113811 - - - Reactome - Q9UMD9 - - - SwissProt - Q9UMD9 - - - - - 10q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - integrin subunit beta 4 - ITGB4 - - CD104 - - - gene with protein product - - - - ClinVar - ITGB4 - - - Ensembl - ENSG00000132470 - - - Genatlas - ITGB4 - - - HGNC - 6158 - - - OMIM - 147557 - - - Reactome - P16144 - - - SwissProt - P16144 - - - IUPHAR - 2458 - - - - - 17q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2307 - IVIC syndrome - - Malformation syndrome - - - Disorder - - - - 17256792[PMID] - - spalt like transcription factor 4 - SALL4 - - ZNF797 - dJ1112F19.1 - - - gene with protein product - - - - ClinVar - SALL4 - - - Ensembl - ENSG00000101115 - - - Genatlas - SALL4 - - - HGNC - 15924 - - - OMIM - 607343 - - - Reactome - Q9UJQ4 - - - SwissProt - Q9UJQ4 - - - - - 20q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 251295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251295 - Pigmented paravenous retinochoroidal atrophy - - Disease - - - Disorder - - - - 15623792[PMID] - - crumbs cell polarity complex component 1 - CRB1 - - LCA8 - - - gene with protein product - - - - Ensembl - ENSG00000134376 - - - Genatlas - CRB1 - - - HGNC - 2343 - - - OMIM - 604210 - - - SwissProt - P82279 - - - Reactome - P82279 - - - ClinVar - CRB1 - - - - - 1q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 251290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251290 - Parietal foramina with clavicular hypoplasia - - Malformation syndrome - - - Disorder - - - - - - msh homeobox 2 - MSX2 - - CRS2 - FPP - HOX8 - MSH - PFM - craniosynostosis, type 2 - - - gene with protein product - - - - Reactome - P35548 - - - ClinVar - MSX2 - - - Ensembl - ENSG00000120149 - - - Genatlas - MSX2 - - - HGNC - 7392 - - - OMIM - 123101 - - - SwissProt - P35548 - - - - - 5q35.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 251287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251287 - Benign concentric annular macular dystrophy - - Disease - - - Disorder - - - - 32817297[PMID] - - interphotoreceptor matrix proteoglycan 1 - IMPG1 - - GP147 - IPM150 - - - gene with protein product - - - - ClinVar - IMPG1 - - - Ensembl - ENSG00000112706 - - - Genatlas - IMPG1 - - - HGNC - 6055 - - - OMIM - 602870 - - - SwissProt - Q17R60 - - - - - 6q14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 251282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251282 - Autosomal dominant spastic ataxia type 1 - - Disease - - - Disorder - - - - 22958904[PMID] - - vesicle associated membrane protein 1 - VAMP1 - - VAMP-1 - - - gene with protein product - - - - Ensembl - ENSG00000139190 - - - Genatlas - VAMP1 - - - HGNC - 12642 - - - OMIM - 185880 - - - Reactome - P23763 - - - SwissProt - P23763 - - - ClinVar - VAMP1 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 251279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251279 - Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome - - Disease - - - Disorder - - - - 17167404[PMID] - - membrane frizzled-related protein - MFRP - - C1q and TNF related 5 - C1QTNF5 - FLJ30570 - NNO2 - membrane-type frizzled-related protein - rd6 - - - gene with protein product - - - - Ensembl - ENSG00000235718 - - - Genatlas - MFRP - - - HGNC - 18121 - - - OMIM - 606227 - - - SwissProt - Q9BY79 - - - ClinVar - MFRP - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 251274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251274 - Familial hyperaldosteronism type III - - Disease - - - Disorder - - - - 24817817[PMID] - - potassium inwardly rectifying channel subfamily J member 5 - KCNJ5 - - CIR - GIRK4 - KATP1 - Kir3.4 - LQT13 - G protein-activated inward rectifier potassium channel 4 - - - gene with protein product - - - - Ensembl - ENSG00000120457 - - - Genatlas - KCNJ5 - - - HGNC - 6266 - - - IUPHAR - 437 - - - OMIM - 600734 - - - Reactome - P48544 - - - SwissProt - P48544 - - - ClinVar - KCNJ5 - - - - - 11q24.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 251262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251262 - Familial osteochondritis dissecans - - Disease - - - Disorder - - - - 20137779[PMID] - - aggrecan - ACAN - - CSPGCP - aggrecan proteoglycan - - - gene with protein product - - - - ClinVar - ACAN - - - Ensembl - ENSG00000157766 - - - Genatlas - ACAN - - - HGNC - 319 - - - OMIM - 155760 - - - Reactome - P16112 - - - SwissProt - P16112 - - - - - 15q26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 251347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251347 - Ataxia-telangiectasia-like disorder - - Disease - - - Disorder - - - - 10612394[PMID] - - MRE11 homolog, double strand break repair nuclease - MRE11 - - AT-like disease - ATLD - - - gene with protein product - - - - ClinVar - MRE11A - - - Ensembl - ENSG00000020922 - - - Genatlas - MRE11A - - - HGNC - 7230 - - - OMIM - 600814 - - - Reactome - P49959 - - - SwissProt - P49959 - - - - - 11q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2289 - Neuronal intranuclear inclusion disease - - Disease - - - Disorder - - - - 31178126[PMID] - - notch 2 N-terminal like C - NOTCH2NLC - - - - gene with protein product - - - - OMIM - 618025 - - - HGNC - 53924 - - - Ensembl - ENSG00000286219 - - - SwissProt - P0DPK4 - - - - - 1q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2290 - Microvillus inclusion disease - - Disease - - - Disorder - - - - 20186687[PMID] - - myosin VB - MYO5B - - KIAA1119 - - - gene with protein product - - - - Ensembl - ENSG00000167306 - - - Genatlas - MYO5B - - - HGNC - 7603 - - - OMIM - 606540 - - - Reactome - Q9ULV0 - - - SwissProt - Q9ULV0 - - - ClinVar - MYO5B - - - - - 18q21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24726755[PMID] - - syntaxin 3 - STX3 - - - - gene with protein product - - - - ClinVar - STX3 - - - Reactome - Q13277 - - - Ensembl - ENSG00000166900 - - - Genatlas - STX3 - - - HGNC - 11438 - - - OMIM - 600876 - - - SwissProt - Q13277 - - - - - 11q12.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 254857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254857 - Lethal infantile mitochondrial myopathy - - Disease - - - Disorder - - - - 1645537[PMID] - - mitochondrially encoded tRNA-Thr (ACN) - MT-TT - - trnT - - - Non-coding RNA - - - - SwissProt - - - - Ensembl - ENSG00000210195 - - - Genatlas - MT-TT - - - HGNC - 7499 - - - OMIM - 590090 - - - ClinVar - MT-TT - - - - - mitochondria - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 2678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2678 - Familial isolated café-au-lait macules - - Malformation syndrome - - - Disorder - - - - 39140257[PMID] - - leucine zipper like post translational regulator 1 - LZTR1 - - BTBD29 - LZTR-1 - - - gene with protein product - - - - SwissProt - Q8N653 - - - Ensembl - ENSG00000099949 - - - Genatlas - LZTR1 - - - HGNC - 6742 - - - OMIM - 600574 - - - ClinVar - LZTR1 - - - - - 22q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 254864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254864 - Mitochondrial myopathy with reversible cytochrome C oxidase deficiency - - Disease - - - Disorder - - - - 21931168[PMID] - - tRNA mitochondrial 2-thiouridylase - TRMU - - FLJ10140 - MTO2 - MTU1 - mitochondrial tRNA-specific 2-thiouridylase 1 - - - gene with protein product - - - - ClinVar - TRMU - - - Ensembl - ENSG00000100416 - - - Genatlas - TRMU - - - HGNC - 25481 - - - OMIM - 610230 - - - Reactome - O75648 - - - SwissProt - O75648 - - - - - 22q13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19720722[PMID] - - mitochondrially encoded tRNA-Glu (GAA/G) - MT-TE - - trnE - - - Non-coding RNA - - - - SwissProt - - - - ClinVar - MT-TE - - - Ensembl - ENSG00000210194 - - - Genatlas - MT-TE - - - HGNC - 7479 - - - OMIM - 590025 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2662 - Keipert syndrome - - Malformation syndrome - - - Disorder - - - - 30982611[PMID] - - glypican 4 - GPC4 - - glypican proteoglycan 4 - K-glypican - - - gene with protein product - - - - ClinVar - GPC4 - - - Ensembl - ENSG00000076716 - - - Genatlas - GPC4 - - - HGNC - 4452 - - - OMIM - 300168 - - - Reactome - O75487 - - - SwissProt - O75487 - - - - - Xq26.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1475 - Renal coloboma syndrome - - Malformation syndrome - - - Disorder - - - - 22213154[PMID]_20301624[PMID] - - paired box 2 - PAX2 - - PAX-2 - - - gene with protein product - - - - Ensembl - ENSG00000075891 - - - Genatlas - PAX2 - - - HGNC - 8616 - - - OMIM - 167409 - - - SwissProt - Q02962 - - - ClinVar - PAX2 - - - - - 10q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2670 - Pierson syndrome - - Malformation syndrome - - - Disorder - - - - 24944146[PMID] - - laminin subunit beta 2 - LAMB2 - - NPHS5 - laminin S - - - gene with protein product - - - - ClinVar - LAMB2 - - - Ensembl - ENSG00000172037 - - - Genatlas - LAMB2 - - - HGNC - 6487 - - - OMIM - 150325 - - - Reactome - P55268 - - - SwissProt - P55268 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 254930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254930 - Combined oxidative phosphorylation defect type 7 - - Disease - - - Disorder - - - - 20598281[PMID] - - mitochondrial translation release factor in rescue - MTRFR - - FLJ38663 - SPG55 - mtRF-R - COXPD7 - - - gene with protein product - - - - Ensembl - ENSG00000130921 - - - Genatlas - C12orf65 - - - HGNC - 26784 - - - OMIM - 613541 - - - SwissProt - Q9H3J6 - - - ClinVar - C12orf65 - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 254925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254925 - Combined oxidative phosphorylation defect type 4 - - Disease - - - Disorder - - - - 17160893[PMID] - - Tu translation elongation factor, mitochondrial - TUFM - - EF-TuMT - EFTU - EFTu - - - gene with protein product - - - - Ensembl - ENSG00000178952 - - - Genatlas - TUFM - - - HGNC - 12420 - - - OMIM - 602389 - - - Reactome - P49411 - - - SwissProt - P49411 - - - ClinVar - TUFM - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2697 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2697 - Arthrogryposis-renal dysfunction-cholestasis syndrome - - Malformation syndrome - - - Disorder - - - - 25239142[PMID] - - VPS33B late endosome and lysosome associated - VPS33B - - FLJ14848 - - - gene with protein product - - - - ClinVar - VPS33B - - - Ensembl - ENSG00000184056 - - - Genatlas - VPS33B - - - HGNC - 12712 - - - OMIM - 608552 - - - SwissProt - Q9H267 - - - - - 15q26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25239142[PMID] - - VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog - VIPAS39 - - Spermatogenesis-defective protein 39 homolog - SPE-39 - SPE39 - VIPAR - VPS16B - VPS33B interacting protein, apical-basolateral polarity regulator - hSPE-39 - - - gene with protein product - - - - OMIM - 613401 - - - SwissProt - Q9H9C1 - - - Ensembl - ENSG00000151445 - - - Genatlas - VIPAR - - - HGNC - 20347 - - - ClinVar - VIPAR - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 254920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254920 - Combined oxidative phosphorylation defect type 2 - - Disease - - - Disorder - - - - 15505824[PMID] - - mitochondrial ribosomal protein S16 - MRPS16 - - bS16m - CGI-132 - - - gene with protein product - - - - Ensembl - ENSG00000182180 - - - Genatlas - MRPS16 - - - HGNC - 14048 - - - OMIM - 609204 - - - Reactome - Q9Y3D3 - - - SwissProt - Q9Y3D3 - - - ClinVar - MRPS16 - - - - - 10q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 254913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254913 - Isolated ATP synthase deficiency - - Disease - - - Disorder - - - - 21686774[PMID]_28412374[PMID] - - mitochondrially encoded ATP synthase membrane subunit 6 - MT-ATP6 - - ATP6 - ATPase-6 - Su6m - mitochondrially encoded ATP synthase membrane subunit a - - - gene with protein product - - - - ClinVar - MT-ATP6 - - - Ensembl - ENSG00000198899 - - - Genatlas - MT-ATP6 - - - HGNC - 7414 - - - OMIM - 516060 - - - Reactome - P00846 - - - SwissProt - P00846 - - - IUPHAR - 801 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29917077[PMID] - - ATP synthase membrane subunit k - ATP5MK - - MGC14697 - bA792D24.4 - DAPIT - AGP - Diabetes Associated Protein in Insulin-sensitive Tissues - - - gene with protein product - - - - OMIM - 615204 - - - HGNC - 30889 - - - Ensembl - ENSG00000173915 - - - SwissProt - Q96IX5 - - - - - 10q24.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21686774[PMID] - - mitochondrially encoded ATP synthase membrane subunit 8 - MT-ATP8 - - mitochondrially encoded ATP synthase membrane subunit A6L - A6L - ATP8 - URFA6L - - - gene with protein product - - - - IUPHAR - 809 - - - Genatlas - MT-ATP8 - - - HGNC - 7415 - - - OMIM - 516070 - - - Reactome - P03928 - - - SwissProt - P03928 - - - Ensembl - ENSG00000228253 - - - ClinVar - MT-ATP8 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 14757859[PMID] - - ATP synthase mitochondrial F1 complex assembly factor 2 - ATPAF2 - - ATP12 - Atp12p - LP3663 - MGC29736 - - - gene with protein product - - - - Ensembl - ENSG00000171953 - - - Genatlas - ATPAF2 - - - HGNC - 18802 - - - OMIM - 608918 - - - SwissProt - Q8N5M1 - - - ClinVar - ATPAF2 - - - Reactome - Q8N5M1 - - - - - 17p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20566710[PMID] - - ATP synthase F1 subunit epsilon - ATP5F1E - - - - gene with protein product - - - - OMIM - 606153 - - - Reactome - P56381 - - - SwissProt - P56381 - - - Ensembl - ENSG00000124172 - - - Genatlas - ATP5E - - - HGNC - 838 - - - ClinVar - ATP5E - - - IUPHAR - 800 - - - - - 20q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23599390[PMID] - - ATP synthase F1 subunit alpha - ATP5F1A - - ATP5A - OMR - ORM - hATP1 - - - gene with protein product - - - - ClinVar - ATP5A1 - - - IUPHAR - 796 - - - Ensembl - ENSG00000152234 - - - Genatlas - ATP5A1 - - - HGNC - 823 - - - OMIM - 164360 - - - Reactome - P25705 - - - SwissProt - P25705 - - - - - 18q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29478781[PMID] - - ATP synthase F1 subunit delta - ATP5F1D - - - - gene with protein product - - - - HGNC - 837 - - - SwissProt - P30049 - - - Ensembl - ENSG00000099624 - - - OMIM - 603150 - - - IUPHAR - 799 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 255182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255182 - Pyruvate dehydrogenase E3-binding protein deficiency - - Clinical subtype - - - Subtype of disorder - - - - 9399911[PMID] - - pyruvate dehydrogenase complex component X - PDHX - - DLDBP - E3BP - OPDX - PDX1 - proX - - - gene with protein product - - - - ClinVar - PDHX - - - Ensembl - ENSG00000110435 - - - Genatlas - PDHX - - - HGNC - 21350 - - - OMIM - 608769 - - - Reactome - O00330 - - - SwissProt - O00330 - - - - - 11p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701 - Noonan syndrome-like disorder with loose anagen hair - - Malformation syndrome - - - Disorder - - - - 27264673[PMID]_27868344[PMID]_28211982[PMID] - - protein phosphatase 1 catalytic subunit beta - PPP1CB - - PP1c - PP1beta - PP-1B - PP1B - PPP1beta - myosin phosphatase - MP - - - gene with protein product - - - - SwissProt - P62140 - - - Ensembl - ENSG00000213639 - - - ClinVar - PPP1CB - - - Reactome - P62140 - - - Genatlas - PPP1CB - - - HGNC - 9282 - - - OMIM - 600590 - - - - - 2p23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19684605[PMID] - - SHOC2 leucine rich repeat scaffold protein - SHOC2 - - KIAA0862 - SOC-2 - SOC2 - SUR-8 - SUR8 - - - gene with protein product - - - - Ensembl - ENSG00000108061 - - - Genatlas - SHOC2 - - - HGNC - 15454 - - - OMIM - 602775 - - - SwissProt - Q9UQ13 - - - Reactome - Q9UQ13 - - - ClinVar - SHOC2 - - - - - 10q25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 255138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255138 - Pyruvate dehydrogenase E1-beta deficiency - - Clinical subtype - - - Subtype of disorder - - - - 15138885[PMID] - - pyruvate dehydrogenase E1 subunit beta - PDHB - - E1beta - PDHE1B - - - gene with protein product - - - - Ensembl - ENSG00000168291 - - - ClinVar - PDHB - - - Genatlas - PDHB - - - HGNC - 8808 - - - OMIM - 179060 - - - Reactome - P11177 - - - SwissProt - P11177 - - - - - 3p14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 255132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255132 - Adult-onset autosomal recessive sideroblastic anemia - - Disease - - - Disorder - - - - 17485548[PMID] - - glutaredoxin 5 - GLRX5 - - GRX5 - PR01238 - - - gene with protein product - - - - Reactome - Q86SX6 - - - Ensembl - ENSG00000182512 - - - Genatlas - GLRX5 - - - HGNC - 20134 - - - OMIM - 609588 - - - SwissProt - Q86SX6 - - - ClinVar - GLRX5 - - - - - 14q32.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2698 - Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome - - Disease - - - Disorder - - - - 22421650[PMID]_15952212[PMID]_15482471[PMID] - - gap junction protein beta 2 - GJB2 - - CX26 - NSRD1 - connexin 26 - - - gene with protein product - - - - ClinVar - GJB2 - - - Ensembl - ENSG00000165474 - - - Genatlas - GJB2 - - - HGNC - 4284 - - - OMIM - 121011 - - - Reactome - P29033 - - - SwissProt - P29033 - - - IUPHAR - 716 - - - - - 13q12.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 254886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254886 - Autosomal recessive progressive external ophthalmoplegia - - Disease - - - Disorder - - - - 11431686[PMID]_20301791[PMID] - - DNA polymerase gamma, catalytic subunit - POLG - - POLG1 - POLGA - - - gene with protein product - - - - Ensembl - ENSG00000140521 - - - Genatlas - POLG - - - HGNC - 9179 - - - OMIM - 174763 - - - SwissProt - P54098 - - - Reactome - P54098 - - - ClinVar - POLG - - - - - 15q26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21937588[PMID] - - thymidine kinase 2 - TK2 - - SCA31 - mitochondrial thymidine kinase - - - gene with protein product - - - - ClinVar - TK2 - - - Ensembl - ENSG00000166548 - - - Genatlas - TK2 - - - HGNC - 11831 - - - OMIM - 188250 - - - Reactome - O00142 - - - SwissProt - O00142 - - - - - 16q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 254881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254881 - Spinocerebellar ataxia with epilepsy - - Disease - - - Disorder - - - - 15824347[PMID] - - DNA polymerase gamma, catalytic subunit - POLG - - POLG1 - POLGA - - - gene with protein product - - - - Ensembl - ENSG00000140521 - - - Genatlas - POLG - - - HGNC - 9179 - - - OMIM - 174763 - - - SwissProt - P54098 - - - Reactome - P54098 - - - ClinVar - POLG - - - - - 15q26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 254875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254875 - Mitochondrial DNA depletion syndrome, myopathic form - - Disease - - - Disorder - - - - 23230576[PMID] - - thymidine kinase 2 - TK2 - - SCA31 - mitochondrial thymidine kinase - - - gene with protein product - - - - ClinVar - TK2 - - - Ensembl - ENSG00000166548 - - - Genatlas - TK2 - - - HGNC - 11831 - - - OMIM - 188250 - - - Reactome - O00142 - - - SwissProt - O00142 - - - - - 16q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 254905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254905 - Isolated cytochrome C oxidase deficiency - - Disease - - - Disorder - - - - 10767350[PMID]_12928484[PMID]_15455402[PMID] - - cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 - COX10 - - heme O synthase - protoheme IX farnesyltransferase, mitochondrial - - - gene with protein product - - - - ClinVar - COX10 - - - Genatlas - COX10 - - - HGNC - 2260 - - - OMIM - 602125 - - - Reactome - Q12887 - - - SwissProt - Q12887 - - - Ensembl - ENSG00000006695 - - - - - 17p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12140182[PMID]_16284789[PMID]_11579424[PMID] - - mitochondrially encoded cytochrome c oxidase I - MT-CO1 - - COI - COX1 - - - gene with protein product - - - - ClinVar - MT-CO1 - - - Ensembl - ENSG00000198804 - - - Genatlas - MT-CO1 - - - HGNC - 7419 - - - OMIM - 516030 - - - Reactome - P00395 - - - SwissProt - P00395 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 10205264[PMID]_10486321[PMID]_11471180[PMID]_11558799[PMID]_11579424[PMID] - - mitochondrially encoded cytochrome c oxidase II - MT-CO2 - - CO2 - COX2 - - - gene with protein product - - - - ClinVar - MT-CO2 - - - Ensembl - ENSG00000198712 - - - Genatlas - MT-CO2 - - - HGNC - 7421 - - - OMIM - 516040 - - - Reactome - P00403 - - - SwissProt - P00403 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 8630495[PMID]_9634511[PMID]_11063732[PMID]_12414820[PMID]_11579424[PMID] - - mitochondrially encoded cytochrome c oxidase III - MT-CO3 - - CO3 - COIII - COX3 - - - gene with protein product - - - - ClinVar - MT-CO3 - - - Ensembl - ENSG00000198938 - - - Genatlas - MT-CO3 - - - HGNC - 7422 - - - OMIM - 516050 - - - Reactome - P00414 - - - SwissProt - P00414 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18499082[PMID]_24781756[PMID] - - cytochrome c oxidase subunit 6B1 - COX6B1 - - COXG - - - gene with protein product - - - - Ensembl - ENSG00000126267 - - - Genatlas - COX6B1 - - - HGNC - 2280 - - - OMIM - 124089 - - - Reactome - P14854 - - - SwissProt - P14854 - - - ClinVar - COX6B1 - - - - - 19q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22243966[PMID] - - cytochrome c oxidase assembly factor COX14 - COX14 - - MGC14288 - - - gene with protein product - - - - Genatlas - C12orf62 - - - HGNC - 28216 - - - OMIM - 614478 - - - Reactome - Q96I36 - - - SwissProt - Q96I36 - - - Ensembl - ENSG00000178449 - - - ClinVar - C12orf62 - - - - - 12q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33169484[PMID] - - cytochrome c oxidase assembly factor COX16 - COX16 - - HSPC203 - - - gene with protein product - - - - HGNC - 20213 - - - Ensembl - ENSG00000133983 - - - SwissProt - Q9P0S2 - - - OMIM - 618064 - - - - - 14q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31290619[PMID] - - cytochrome c oxidase subunit 4I1 - COX4I1 - - COXIV-1 - COXIV - COX4-1 - - - gene with protein product - - - - HGNC - 2265 - - - Ensembl - ENSG00000131143 - - - SwissProt - P13073 - - - OMIM - 123864 - - - Genatlas - COX4I1 - - - Reactome - P13073 - - - ClinVar - COX4I1 - - - - - 16q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23125284[PMID] - - cytochrome c oxidase assembly factor COX20 - COX20 - - FLJ43269 - - - gene with protein product - - - - Ensembl - ENSG00000203667 - - - Genatlas - COX20 - - - HGNC - 26970 - - - OMIM - 614698 - - - Reactome - Q5RI15 - - - SwissProt - Q5RI15 - - - ClinVar - COX20 - - - - - 1q44 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25604084[PMID] - - cytochrome c oxidase assembly factor 3 - COA3 - - HSPC009 - MITRAC12 - COX25 - hCOA3 - - - gene with protein product - - - - Ensembl - ENSG00000183978 - - - Genatlas - COA3 - - - HGNC - 24990 - - - OMIM - 614775 - - - SwissProt - Q9Y2R0 - - - ClinVar - COA3 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26685157[PMID] - - cytochrome c oxidase subunit 8A - COX8A - - COX - COX8-2 - COX8L - VIII - VIII-L - - - gene with protein product - - - - HGNC - 2294 - - - OMIM - 123870 - - - Genatlas - COX8A - - - SwissProt - P10176 - - - Reactome - P10176 - - - Ensembl - ENSG00000176340 - - - ClinVar - COX8A - - - - - 11q13.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 31155743[PMID] - - cytochrome c oxidase subunit 6A2 - COX6A2 - - COXVIa-M - COX6AH - COXVIAH - - - gene with protein product - - - - HGNC - 2279 - - - Ensembl - ENSG00000156885 - - - SwissProt - Q02221 - - - OMIM - 602009 - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28386624[PMID] - - PET117 cytochrome c oxidase chaperone - PET117 - - CSRP2BP - - - gene with protein product - - - - HGNC - 40045 - - - Ensembl - ENSG00000232838 - - - SwissProt - Q6UWS5 - - - OMIM - 614771 - - - - - 20p11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28247525[PMID] - - cytochrome c oxidase subunit 5A - COX5A - - Cytochrome c oxidase subunit 5A, mitochondrial - COX-VA - - - gene with protein product - - - - HGNC - 2267 - - - Ensembl - ENSG00000178741 - - - SwissProt - P20674 - - - OMIM - 603773 - - - Genatlas - COX5A - - - Reactome - P20674 - - - ClinVar - COX5A - - - - - 15q24.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 254902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254902 - Renal tubulopathy-encephalopathy-liver failure syndrome - - Disease - - - Disorder - - - - 11528392[PMID] - - BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone - BCS1L - - BCS - BJS - Bjornstad syndrome - GRACILE syndrome - Hs.6719 - h-BCS - - - gene with protein product - - - - Ensembl - ENSG00000074582 - - - Genatlas - BCS1L - - - HGNC - 1020 - - - OMIM - 603647 - - - Reactome - Q9Y276 - - - SwissProt - Q9Y276 - - - ClinVar - BCS1L - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 254898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254898 - Deafness-encephaloneuropathy-obesity-valvulopathy syndrome - - Disease - - - Disorder - - - - 17332895[PMID] - - decaprenyl diphosphate synthase subunit 1 - PDSS1 - - COQ1 - TPT - coenzyme Q1 homolog (yeast) - COQ1A - - - gene with protein product - - - - Ensembl - ENSG00000148459 - - - Genatlas - PDSS1 - - - HGNC - 17759 - - - OMIM - 607429 - - - Reactome - Q5T2R2 - - - SwissProt - Q5T2R2 - - - ClinVar - PDSS1 - - - - - 10p12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 254892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254892 - Autosomal dominant progressive external ophthalmoplegia - - Disease - - - Disorder - - - - 11431686[PMID]_20301791[PMID] - - DNA polymerase gamma, catalytic subunit - POLG - - POLG1 - POLGA - - - gene with protein product - - - - Ensembl - ENSG00000140521 - - - Genatlas - POLG - - - HGNC - 9179 - - - OMIM - 174763 - - - SwissProt - P54098 - - - Reactome - P54098 - - - ClinVar - POLG - - - - - 15q26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21555342[PMID] - - DNA polymerase gamma 2, accessory subunit - POLG2 - - MTPOLB - HP55 - - - gene with protein product - - - - Reactome - Q9UHN1 - - - SwissProt - Q9UHN1 - - - Ensembl - ENSG00000256525 - - - Genatlas - POLG2 - - - HGNC - 9180 - - - OMIM - 604983 - - - ClinVar - POLG2 - - - - - 17q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21519523[PMID]_10926541[PMID] - - solute carrier family 25 member 4 - SLC25A4 - - T1 - ADP/ATP carrier 1 - ADP/ATP translocase 1 - AAC1 - - - gene with protein product - - - - Ensembl - ENSG00000151729 - - - Genatlas - SLC25A4 - - - HGNC - 10990 - - - OMIM - 103220 - - - Reactome - P12235 - - - SwissProt - P12235 - - - ClinVar - SLC25A4 - - - IUPHAR - 1062 - - - - - 4q35.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21519523[PMID]_11431692[PMID] - - twinkle mtDNA helicase - TWNK - - FLJ21832 - PEO - PEO1 - T7 helicase-related protein with intramitochondrial nucleoid localization - TWINKLE - TWINL - - - gene with protein product - - - - Ensembl - ENSG00000107815 - - - Genatlas - C10orf2 - - - HGNC - 1160 - - - OMIM - 606075 - - - Reactome - Q96RR1 - - - SwissProt - Q96RR1 - - - ClinVar - C10orf2 - - - - - 10q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21646632[PMID]_19664747[PMID] - - ribonucleotide reductase regulatory TP53 inducible subunit M2B - RRM2B - - p53R2 - - - gene with protein product - - - - Ensembl - ENSG00000048392 - - - Genatlas - RRM2B - - - HGNC - 17296 - - - IUPHAR - 2754 - - - OMIM - 604712 - - - Reactome - Q7LG56 - - - SwissProt - Q7LG56 - - - ClinVar - RRM2B - - - - - 8q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2712 - Oculofaciocardiodental syndrome - - Malformation syndrome - - - Disorder - - - - 22301464[PMID]_15004558[PMID]_15770227[PMID] - - BCL6 corepressor - BCOR - - BCL-6 coreceptor - BCL6 interacting corepressor - FLJ20285 - KIAA1575 - - - gene with protein product - - - - Reactome - Q6W2J9 - - - ClinVar - BCOR - - - Genatlas - BCOR - - - HGNC - 20893 - - - OMIM - 300485 - - - SwissProt - Q6W2J9 - - - Ensembl - ENSG00000183337 - - - - - Xp11.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2717 - Oculotrichoanal syndrome - - Malformation syndrome - - - Disorder - - - - 20301721[PMID] - - FRAS1 related extracellular matrix 1 - FREM1 - - C9orf143 - C9orf145 - DKFZp686M16108 - FLJ25461 - TILRR - - - gene with protein product - - - - Ensembl - ENSG00000164946 - - - Genatlas - FREM1 - - - HGNC - 23399 - - - OMIM - 608944 - - - SwissProt - Q5H8C1 - - - ClinVar - FREM1 - - - - - 9p22.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2704 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2704 - Urofacial syndrome - - Malformation syndrome - - - Disorder - - - - 23967498[PMID] - - heparanase 2 (inactive) - HPSE2 - - HPA2 - HPR2 - - - gene with protein product - - - - ClinVar - HPSE2 - - - Ensembl - ENSG00000172987 - - - Genatlas - HPSE2 - - - HGNC - 18374 - - - OMIM - 613469 - - - Reactome - Q8WWQ2 - - - SwissProt - Q8WWQ2 - - - - - 10q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23313374[PMID]_23967498[PMID] - - leucine rich repeats and immunoglobulin like domains 2 - LRIG2 - - KIAA0806 - - - gene with protein product - - - - Ensembl - ENSG00000198799 - - - Genatlas - LRIG2 - - - HGNC - 20889 - - - OMIM - 608869 - - - SwissProt - O94898 - - - ClinVar - LRIG2 - - - - - 1p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 255210 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255210 - Mitochondrial DNA-associated Leigh syndrome - - Disease - - - Disorder - - - - 19433277[PMID]_20301352[PMID] - - mitochondrially encoded ATP synthase membrane subunit 6 - MT-ATP6 - - ATP6 - ATPase-6 - Su6m - mitochondrially encoded ATP synthase membrane subunit a - - - gene with protein product - - - - ClinVar - MT-ATP6 - - - Ensembl - ENSG00000198899 - - - Genatlas - MT-ATP6 - - - HGNC - 7414 - - - OMIM - 516060 - - - Reactome - P00846 - - - SwissProt - P00846 - - - IUPHAR - 801 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301352[PMID]_24830958[PMID] - - mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 - MT-ND1 - - NAD1 - NADH-ubiquinone oxidoreductase chain 1 - ND1 - complex I ND1 subunit - - - gene with protein product - - - - ClinVar - MT-ND1 - - - Ensembl - ENSG00000198888 - - - Genatlas - MT-ND1 - - - HGNC - 7455 - - - OMIM - 516000 - - - Reactome - P03886 - - - SwissProt - P03886 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16738010[PMID]_16996290[PMID]_20301352[PMID] - - mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 - MT-ND2 - - NAD2 - NADH-ubiquinone oxidoreductase chain 2 - ND2 - complex I ND2 subunit - - - gene with protein product - - - - ClinVar - MT-ND2 - - - Ensembl - ENSG00000198763 - - - Genatlas - MT-ND2 - - - HGNC - 7456 - - - OMIM - 516001 - - - Reactome - P03891 - - - SwissProt - P03891 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16023078[PMID]_20202874[PMID]_20301352[PMID]_22364517[PMID] - - mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 - MT-ND3 - - NAD3 - NADH-ubiquinone oxidoreductase chain 3 - ND3 - complex I ND3 subunit - - - gene with protein product - - - - Ensembl - ENSG00000198840 - - - Genatlas - MT-ND3 - - - HGNC - 7458 - - - OMIM - 516002 - - - Reactome - P03897 - - - SwissProt - P03897 - - - ClinVar - MT-ND3 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301352[PMID]_20502985[PMID] - - mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 - MT-ND4 - - NAD4 - NADH-ubiquinone oxidoreductase chain 4 - ND4 - complex I ND4 subunit - - - gene with protein product - - - - ClinVar - MT-ND4 - - - Ensembl - ENSG00000198886 - - - Genatlas - MT-ND4 - - - HGNC - 7459 - - - OMIM - 516003 - - - Reactome - P03905 - - - SwissProt - P03905 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11938446[PMID]_14520659[PMID]_20301352[PMID] - - mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 - MT-ND5 - - NAD5 - NADH-ubiquinone oxidoreductase chain 5 - ND5 - complex I ND5 subunit - - - gene with protein product - - - - ClinVar - MT-ND5 - - - Ensembl - ENSG00000198786 - - - Genatlas - MT-ND5 - - - HGNC - 7461 - - - OMIM - 516005 - - - Reactome - P03915 - - - SwissProt - P03915 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 14595656[PMID]_20301352[PMID]_23813926[PMID] - - mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 - MT-ND6 - - NAD6 - NADH-ubiquinone oxidoreductase chain 6 - ND6 - complex I ND6 subunit - - - gene with protein product - - - - ClinVar - MT-ND6 - - - Ensembl - ENSG00000198695 - - - Genatlas - MT-ND6 - - - HGNC - 7462 - - - OMIM - 516006 - - - Reactome - P03923 - - - SwissProt - P03923 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 9323566[PMID]_10356136[PMID]_20301352[PMID] - - mitochondrially encoded tRNA-Leu (UUA/G) 1 - MT-TL1 - - TRNL1 - - - Non-coding RNA - - - - SwissProt - - - - Ensembl - ENSG00000209082 - - - Genatlas - MT-TL1 - - - HGNC - 7490 - - - OMIM - 590050 - - - ClinVar - MT-TL1 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301352[PMID]_24374964[PMID] - - mitochondrially encoded tRNA-Lys (AAA/G) - MT-TK - - trnK - - - Non-coding RNA - - - - Ensembl - ENSG00000210156 - - - Genatlas - MT-TK - - - HGNC - 7489 - - - OMIM - 590060 - - - SwissProt - - - - ClinVar - MT-TK - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 9266739[PMID]_19349200[PMID]_20301352[PMID] - - mitochondrially encoded tRNA-Trp (UGA/G) - MT-TW - - trnW - - - Non-coding RNA - - - - SwissProt - - - - HGNC - 7501 - - - OMIM - 590095 - - - Ensembl - ENSG00000210117 - - - Genatlas - MT-TW - - - ClinVar - MT-TW - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11799391[PMID]_20301352[PMID]_24691472[PMID] - - mitochondrially encoded tRNA-Val (GUN) - MT-TV - - trnV - - - Non-coding RNA - - - - Ensembl - ENSG00000210077 - - - Genatlas - MT-TV - - - HGNC - 7500 - - - OMIM - 590105 - - - SwissProt - - - - ClinVar - MT-TV - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 255229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255229 - Navajo neurohepatopathy - - Disease - - - Disorder - - - - 22593919[PMID] - - mitochondrial inner membrane protein MPV17 - MPV17 - - SYM1 - glomerulosclerosis - - - gene with protein product - - - - ClinVar - MPV17 - - - Ensembl - ENSG00000115204 - - - Genatlas - MPV17 - - - HGNC - 7224 - - - OMIM - 137960 - - - SwissProt - P39210 - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2707 - Oculocerebrofacial syndrome, Kaufman type - - Malformation syndrome - - - Disorder - - - - 23687348[PMID] - - ubiquitin protein ligase E3B - UBE3B - - - - gene with protein product - - - - Ensembl - ENSG00000151148 - - - Genatlas - UBE3B - - - HGNC - 13478 - - - OMIM - 608047 - - - Reactome - Q7Z3V4 - - - SwissProt - Q7Z3V4 - - - ClinVar - UBE3B - - - - - 12q24.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 255235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255235 - Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy - - Disease - - - Disorder - - - - 24741716[PMID] - - ribonucleotide reductase regulatory TP53 inducible subunit M2B - RRM2B - - p53R2 - - - gene with protein product - - - - Ensembl - ENSG00000048392 - - - Genatlas - RRM2B - - - HGNC - 17296 - - - IUPHAR - 2754 - - - OMIM - 604712 - - - Reactome - Q7LG56 - - - SwissProt - Q7LG56 - - - ClinVar - RRM2B - - - - - 8q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710 - Oculodentodigital dysplasia - - Malformation syndrome - - - Disorder - - - - 16378922[PMID]_24508941[PMID] - - gap junction protein alpha 1 - GJA1 - - CX43 - ODD - ODOD - SDTY3 - connexin 43 - oculodentodigital dysplasia (syndactyly type III) - - - gene with protein product - - - - ClinVar - GJA1 - - - Ensembl - ENSG00000152661 - - - Genatlas - GJA1 - - - HGNC - 4274 - - - OMIM - 121014 - - - Reactome - P17302 - - - SwissProt - P17302 - - - IUPHAR - 728 - - - - - 6q22.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2721 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2721 - Odonto-onycho-dermal dysplasia - - Disease - - - Disorder - - - - 17847007[PMID]_24458874[PMID] - - Wnt family member 10A - WNT10A - - - - gene with protein product - - - - ClinVar - WNT10A - - - HGNC - 13829 - - - OMIM - 606268 - - - Reactome - Q9GZT5 - - - SwissProt - Q9GZT5 - - - Ensembl - ENSG00000135925 - - - Genatlas - WNT10A - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 260305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=260305 - Autosomal recessive sideroblastic anemia - - Disease - - - Disorder - - - - 19412178[PMID] - - solute carrier family 25 member 38 - SLC25A38 - - FLJ20551 - Mitochondrial glycine transporter - - - gene with protein product - - - - IUPHAR - 1089 - - - Ensembl - ENSG00000144659 - - - Genatlas - SLC25A38 - - - HGNC - 26054 - - - OMIM - 610819 - - - SwissProt - Q96DW6 - - - ClinVar - SLC25A38 - - - - - 3p22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26491070[PMID] - - heat shock protein family A (Hsp70) member 9 - HSPA9 - - GRP75 - PBP74 - mortalin2 - mot-2 - mthsp75 - 75 kDa glucose-regulated protein - Stress-70 protein, mitochondrial - mortalin - - - gene with protein product - - - - Genatlas - HSPA9 - - - HGNC - 5244 - - - OMIM - 600548 - - - Reactome - P38646 - - - SwissProt - P38646 - - - Ensembl - ENSG00000113013 - - - ClinVar - HSPA9 - - - - - 5q31.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 - Orofaciodigital syndrome type 6 - - Malformation syndrome - - - Disorder - - - - 30905400[PMID] - - family with sequence similarity 149 member B1 - FAM149B1 - - - - gene with protein product - - - - HGNC - 29162 - - - Ensembl - ENSG00000138286 - - - SwissProt - Q96BN6 - - - OMIM - 618413 - - - - - 10q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301500[PMID] - - OFD1 centriole and centriolar satellite protein - OFD1 - - 71-7A - JBTS10 - Joubert syndrome type 10 - - - gene with protein product - - - - Ensembl - ENSG00000046651 - - - Genatlas - OFD1 - - - HGNC - 2567 - - - OMIM - 300170 - - - Reactome - O75665 - - - SwissProt - O75665 - - - ClinVar - OFD1 - - - - - Xp22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20615230[PMID]_20301500[PMID] - - transmembrane protein 216 - TMEM216 - - HSPC244 - JBTS2 - MGC13379 - - - gene with protein product - - - - ClinVar - TMEM216 - - - Ensembl - ENSG00000187049 - - - Genatlas - TMEM216 - - - HGNC - 25018 - - - OMIM - 613277 - - - Reactome - Q9P0N5 - - - SwissProt - Q9P0N5 - - - - - 11q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301500[PMID]_21633164[PMID] - - kinesin family member 7 - KIF7 - - JBTS12 - - - gene with protein product - - - - ClinVar - KIF7 - - - Ensembl - ENSG00000166813 - - - Genatlas - KIF7 - - - HGNC - 30497 - - - OMIM - 611254 - - - Reactome - Q2M1P5 - - - SwissProt - Q2M1P5 - - - - - 15q26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24178751[PMID] - - ciliogenesis and planar polarity effector complex subunit 1 - CPLANE1 - - Heart Under Glass - FLJ13231 - Hug - JBTS17 - - - gene with protein product - - - - Ensembl - ENSG00000197603 - - - Genatlas - C5orf42 - - - HGNC - 25801 - - - OMIM - 614571 - - - SwissProt - Q9H799 - - - ClinVar - C5orf42 - - - - - 5p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22883145[PMID]_20301500[PMID] - - tectonic family member 3 - TCTN3 - - DKFZP564D116 - JBTS18 - TECT3 - - - gene with protein product - - - - ClinVar - TCTN3 - - - Ensembl - ENSG00000119977 - - - Genatlas - TCTN3 - - - HGNC - 24519 - - - OMIM - 613847 - - - Reactome - Q6NUS6 - - - SwissProt - Q6NUS6 - - - - - 10q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24166846[PMID] - - phosphodiesterase 6D - PDE6D - - JBTS22 - retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta - - - gene with protein product - - - - Ensembl - ENSG00000156973 - - - Genatlas - PDE6D - - - HGNC - 8788 - - - OMIM - 602676 - - - Reactome - O43924 - - - SwissProt - O43924 - - - IUPHAR - 1315 - - - ClinVar - PDE6D - - - - - 2q37.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 26982032[PMID] - - transmembrane protein 231 - TMEM231 - - ALYE870 - FLJ22167 - JBTS20 - MKS11 - PRO1886 - - - gene with protein product - - - - Ensembl - ENSG00000205084 - - - Genatlas - TMEM231 - - - HGNC - 37234 - - - OMIM - 614949 - - - SwissProt - Q9H6L2 - - - ClinVar - TMEM231 - - - - - 16q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34132027[PMID] - - TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase - TOPORS - - LUN - TP53BPL - - - gene with protein product - - - - ClinVar - TOPORS - - - Ensembl - ENSG00000197579 - - - Genatlas - TOPORS - - - HGNC - 21653 - - - OMIM - 609507 - - - SwissProt - Q9NS56 - - - - - 9p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26643951[PMID] - - KIAA0753 - KIAA0753 - - MNR - moonraker - OFD1 and FOPNL interacting protein - OFIP - OFD1 and FOR20 interacting protein - - - gene with protein product - - - - HGNC - 29110 - - - Ensembl - ENSG00000198920 - - - ClinVar - KIAA0753 - - - Reactome - Q2KHM9 - - - OMIM - 617112 - - - Genatlas - KIAA0753 - - - SwissProt - Q2KHM9 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753 - Orofaciodigital syndrome type 4 - - Malformation syndrome - - - Disorder - - - - 22883145[PMID] - - tectonic family member 3 - TCTN3 - - DKFZP564D116 - JBTS18 - TECT3 - - - gene with protein product - - - - ClinVar - TCTN3 - - - Ensembl - ENSG00000119977 - - - Genatlas - TCTN3 - - - HGNC - 24519 - - - OMIM - 613847 - - - Reactome - Q6NUS6 - - - SwissProt - Q6NUS6 - - - - - 10q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751 - Orofaciodigital syndrome type 2 - - Malformation syndrome - - - Disorder - - - - 27530628[PMID] - - NIMA related kinase 1 - NEK1 - - KIAA1901 - NY-REN-55 - - - gene with protein product - - - - Reactome - Q96PY6 - - - Ensembl - ENSG00000137601 - - - Genatlas - NEK1 - - - HGNC - 7744 - - - IUPHAR - 2114 - - - OMIM - 604588 - - - SwissProt - Q96PY6 - - - ClinVar - NEK1 - - - - - 4q33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 252128 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252128 - Malignant peripheral nerve sheath tumor with perineurial differentiation - - Histopathological subtype - - - Subtype of disorder - - - - 27723760[PMID] - - SH3 and PX domains 2A - SH3PXD2A - - FISH - five SH3 domains - KIAA0418 - - - gene with protein product - - - - Reactome - Q5TCZ1 - - - OMIM - 619455 - - - SwissProt - Q5TCZ1 - - - HGNC - 23664 - - - Genatlas - SH3PXD2A - - - ClinVar - SH3PXD2A - - - Ensembl - ENSG00000107957 - - - - - 10q24.33 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 27723760[PMID] - - HtrA serine peptidase 1 - HTRA1 - - ARMD7 - HtrA - IGFBP5-protease - - - gene with protein product - - - - ClinVar - HTRA1 - - - Ensembl - ENSG00000166033 - - - Genatlas - HTRA1 - - - HGNC - 9476 - - - OMIM - 602194 - - - SwissProt - Q92743 - - - IUPHAR - 3194 - - - Reactome - Q92743 - - - - - 10q26.13 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 2750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750 - Orofaciodigital syndrome type 1 - - Malformation syndrome - - - Disorder - - - - 20301367[PMID] - - OFD1 centriole and centriolar satellite protein - OFD1 - - 71-7A - JBTS10 - Joubert syndrome type 10 - - - gene with protein product - - - - Ensembl - ENSG00000046651 - - - Genatlas - OFD1 - - - HGNC - 2567 - - - OMIM - 300170 - - - Reactome - O75665 - - - SwissProt - O75665 - - - ClinVar - OFD1 - - - - - Xp22.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=661 - Congenital central hypoventilation syndrome - - Disease - - - Disorder - - - - 30487221[PMID] - - ladybird homeobox 1 - LBX1 - - LBX1H - HPX6 - - - gene with protein product - - - - HGNC - 16960 - - - Ensembl - ENSG00000138136 - - - OMIM - 604255 - - - SwissProt - P52954 - - - - - 10q24.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301600[PMID] - - paired like homeobox 2B - PHOX2B - - NBPhox - Phox2b - - - gene with protein product - - - - ClinVar - PHOX2B - - - Genatlas - PHOX2B - - - HGNC - 9143 - - - OMIM - 603851 - - - SwissProt - Q99453 - - - Ensembl - ENSG00000109132 - - - - - 4p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 8696331[PMID]_20301600[PMID] - - endothelin 3 - EDN3 - - ET3 - - - gene with protein product - - - - Ensembl - ENSG00000124205 - - - Genatlas - EDN3 - - - HGNC - 3178 - - - OMIM - 131242 - - - Reactome - P14138 - - - SwissProt - P14138 - - - ClinVar - EDN3 - - - - - 20q13.32 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - glial cell derived neurotrophic factor - GDNF - - ATF1 - ATF2 - HFB1-GDNF - astrocyte-derived trophic factor - glial cell line derived neurotrophic factor - glial derived neurotrophic factor - - - gene with protein product - - - - ClinVar - GDNF - - - Ensembl - ENSG00000168621 - - - Genatlas - GDNF - - - HGNC - 4232 - - - OMIM - 600837 - - - Reactome - P39905 - - - SwissProt - P39905 - - - - - 5p13.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 28779001[PMID] - - myosin IH - MYO1H - - FLJ37587 - Unconventional myosin-Ih - - - gene with protein product - - - - HGNC - 13879 - - - Ensembl - ENSG00000174527 - - - OMIM - 614636 - - - Genatlas - MYO1H - - - SwissProt - Q8N1T3 - - - ClinVar - MYO1H - - - - - 12q24.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11840487[PMID] - - brain derived neurotrophic factor - BDNF - - neurotrophin - - - gene with protein product - - - - ClinVar - BDNF - - - SwissProt - P23560 - - - Ensembl - ENSG00000176697 - - - Genatlas - BDNF - - - HGNC - 1033 - - - OMIM - 113505 - - - - - 11p14.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 254361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254361 - Plectin-related limb-girdle muscular dystrophy R17 - - Disease - - - Disorder - - - - 20301582[PMID] - - plectin - PLEC - - PCN - PLTN - - - gene with protein product - - - - Ensembl - ENSG00000178209 - - - Genatlas - PLEC - - - HGNC - 9069 - - - OMIM - 601282 - - - Reactome - Q15149 - - - SwissProt - Q15149 - - - ClinVar - PLEC - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2774 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2774 - Multicentric carpo-tarsal osteolysis with or without nephropathy - - Malformation syndrome - - - Disorder - - - - 22387013[PMID] - - MAF bZIP transcription factor B - MAFB - - - - gene with protein product - - - - Ensembl - ENSG00000204103 - - - Genatlas - MAFB - - - HGNC - 6408 - - - OMIM - 608968 - - - Reactome - Q9Y5Q3 - - - SwissProt - Q9Y5Q3 - - - ClinVar - MAFB - - - - - 20q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2770 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2770 - Nasu-Hakola disease - - Malformation syndrome - - - Disorder - - - - 20301376[PMID] - - triggering receptor expressed on myeloid cells 2 - TREM2 - - TREM-2 - Trem2a - Trem2b - Trem2c - - - gene with protein product - - - - Ensembl - ENSG00000095970 - - - Genatlas - TREM2 - - - HGNC - 17761 - - - OMIM - 605086 - - - Reactome - Q9NZC2 - - - SwissProt - Q9NZC2 - - - ClinVar - TREM2 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301376[PMID] - - transmembrane immune signaling adaptor TYROBP - TYROBP - - DAP12 - DNAX-activation protein 12 - KARAP - PLO-SL - killer activating receptor associated protein - DNAX adaptor protein 12 - - - gene with protein product - - - - Ensembl - ENSG00000011600 - - - Genatlas - TYROBP - - - HGNC - 12449 - - - OMIM - 604142 - - - Reactome - O43914 - - - SwissProt - O43914 - - - ClinVar - TYROBP - - - - - 19q13.12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 254343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254343 - Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome - - Disease - - - Disorder - - - - 20970105[PMID] - - mitochondrial poly(A) polymerase - MTPAP - - TENT6 - FLJ10486 - SPAX4 - TUTase1 - mtPAP - - - gene with protein product - - - - Ensembl - ENSG00000107951 - - - Genatlas - MTPAP - - - HGNC - 25532 - - - OMIM - 613669 - - - SwissProt - Q9NVV4 - - - ClinVar - MTPAP - - - Reactome - Q9NVV4 - - - - - 10p11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 254334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254334 - Autosomal recessive intermediate Charcot-Marie-Tooth disease type B - - Disease - - - Disorder - - - - 20920668[PMID] - - lysyl-tRNA synthetase 1 - KARS1 - - KARS1 - KARS2 - lysine tRNA ligase - - - gene with protein product - - - - ClinVar - KARS - - - Ensembl - ENSG00000065427 - - - Genatlas - KARS - - - HGNC - 6215 - - - OMIM - 601421 - - - Reactome - Q15046 - - - SwissProt - Q15046 - - - - - 16q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2762 - Progressive osseous heteroplasia - - Malformation syndrome - - - Disorder - - - - 14723729[PMID]_20427508[PMID]_17321228[PMID] - - GNAS complex locus - GNAS - - G protein subunit alpha S - GNASXL - GPSA - NESP - NESP55 - SCG6 - SgVI - secretogranin VI - - - gene with protein product - - - - ClinVar - GNAS - - - SwissProt - P63092 - - - SwissProt - P84996 - - - SwissProt - Q5JWF2 - - - Ensembl - ENSG00000087460 - - - Genatlas - GNAS - - - HGNC - 4392 - - - OMIM - 139320 - - - Reactome - P63092 - - - SwissProt - O95467 - - - - - 20q13.32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 252212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252212 - Malignant triton tumor - - Histopathological subtype - - - Subtype of disorder - - - - 27723760[PMID] - - SH3 and PX domains 2A - SH3PXD2A - - FISH - five SH3 domains - KIAA0418 - - - gene with protein product - - - - Reactome - Q5TCZ1 - - - OMIM - 619455 - - - SwissProt - Q5TCZ1 - - - HGNC - 23664 - - - Genatlas - SH3PXD2A - - - ClinVar - SH3PXD2A - - - Ensembl - ENSG00000107957 - - - - - 10q24.33 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 27723760[PMID] - - HtrA serine peptidase 1 - HTRA1 - - ARMD7 - HtrA - IGFBP5-protease - - - gene with protein product - - - - ClinVar - HTRA1 - - - Ensembl - ENSG00000166033 - - - Genatlas - HTRA1 - - - HGNC - 9476 - - - OMIM - 602194 - - - SwissProt - Q92743 - - - IUPHAR - 3194 - - - Reactome - Q92743 - - - - - 10q26.13 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 2763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2763 - Osteocraniostenosis - - Malformation syndrome - - - Disorder - - - - 23684011[PMID] - - FAM111 trypsin like peptidase A - FAM111A - - FLJ22794 - KIAA1895 - - - gene with protein product - - - - Ensembl - ENSG00000166801 - - - Genatlas - FAM111A - - - HGNC - 24725 - - - OMIM - 615292 - - - SwissProt - Q96PZ2 - - - ClinVar - FAM111A - - - - - 11q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 252206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252206 - Melanoma and neural system tumor syndrome - - Disease - - - Disorder - - - - 11136714[PMID] - - cyclin dependent kinase inhibitor 2A - CDKN2A - - ARF - CDK4I - CMM2 - INK4 - INK4a - MTS1 - p14 - p14ARF - p16 - p16INK4a - p19 - p19Arf - inhibitor of cdk4 A - P16-INK4A - CDKN2A/ARF Intron 2 lncRNA - multiple tumour suppressor 1 - cyclin-dependent kinase 4 inhibitor A - p14 alternate open reading frame - p19 alternate open reading frame - CAI2 - - - gene with protein product - - - - Ensembl - ENSG00000147889 - - - Genatlas - CDKN2A - - - HGNC - 1787 - - - OMIM - 600160 - - - Reactome - P42771 - - - SwissProt - P42771 - - - ClinVar - CDKN2A - - - - - 9p21.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 252202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252202 - Constitutional mismatch repair deficiency syndrome - - Disease - - - Disorder - - - - 20442441[PMID]_23483711[PMID] - - PMS1 homolog 2, mismatch repair system component - PMS2 - - HNPCC4 - H_DJ0042M02.9 - MLH4 - PMS-2 - - - gene with protein product - - - - Ensembl - ENSG00000122512 - - - Genatlas - PMS2 - - - HGNC - 9122 - - - OMIM - 600259 - - - Reactome - P54278 - - - SwissProt - P54278 - - - ClinVar - PMS2 - - - - - 7p22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20442441[PMID] - - mutL homolog 1 - MLH1 - - MLH-1 - FCC2 - HNPCC - HNPCC2 - - - gene with protein product - - - - ClinVar - MLH1 - - - Ensembl - ENSG00000076242 - - - Genatlas - MLH1 - - - HGNC - 7127 - - - OMIM - 120436 - - - Reactome - P40692 - - - SwissProt - P40692 - - - - - 3p22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20442441[PMID]_23483711[PMID] - - mutS homolog 2 - MSH2 - - MSH-2 - HNPCC - HNPCC1 - DNA mismatch repair protein Msh2 - - - gene with protein product - - - - ClinVar - MSH2 - - - Ensembl - ENSG00000095002 - - - Genatlas - MSH2 - - - HGNC - 7325 - - - OMIM - 609309 - - - Reactome - P43246 - - - SwissProt - P43246 - - - - - 2p21-p16.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20442441[PMID]_23483711[PMID] - - mutS homolog 6 - MSH6 - - MSH-6 - - - gene with protein product - - - - ClinVar - MSH6 - - - Ensembl - ENSG00000116062 - - - Genatlas - MSH6 - - - HGNC - 7329 - - - OMIM - 600678 - - - Reactome - P52701 - - - SwissProt - P52701 - - - - - 2p16.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2792 - Otofaciocervical syndrome - - Malformation syndrome - - - Disorder - - - - 16441263[PMID] - - EYA transcriptional coactivator and phosphatase 1 - EYA1 - - - - gene with protein product - - - - ClinVar - EYA1 - - - Ensembl - ENSG00000104313 - - - Genatlas - EYA1 - - - HGNC - 3519 - - - OMIM - 601653 - - - Reactome - Q99502 - - - SwissProt - Q99502 - - - - - 8q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23851939[PMID] - - paired box 1 - PAX1 - - - - gene with protein product - - - - ClinVar - PAX1 - - - Ensembl - ENSG00000125813 - - - Genatlas - PAX1 - - - HGNC - 8615 - - - OMIM - 167411 - - - SwissProt - P15863 - - - - - 20p11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 254525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254525 - Temple syndrome due to paternal 14q32.2 microdeletion - - Etiological subtype - - - Subtype of disorder - - - - 18176563[PMID]_24801763[PMID] - - maternally expressed 3 - MEG3 - - GTL2 - LINC00023 - NCRNA00023 - long intergenic non-protein coding RNA 23 - non-protein coding RNA 23 - onco-lncRNA-83 - gene trap locus 2 - - - Non-coding RNA - - - - Ensembl - ENSG00000214548 - - - Genatlas - MEG3 - - - HGNC - 14575 - - - OMIM - 605636 - - - SwissProt - - - - ClinVar - MEG3 - - - - - 14q32.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 18176563[PMID] - - delta like non-canonical Notch ligand 1 - DLK1 - - Delta1 - FA1 - Pref-1 - ZOG - pG2 - - - gene with protein product - - - - ClinVar - DLK1 - - - Ensembl - ENSG00000185559 - - - Genatlas - DLK1 - - - HGNC - 2907 - - - OMIM - 176290 - - - Reactome - P80370 - - - SwissProt - P80370 - - - - - 14q32.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 18176563[PMID] - - retrotransposon Gag like 1 - RTL1 - - Sushi-Ichi retrotransposon homolog 2 - SIRH2 - HUR1 - paternally expressed 11 - mammalian retrotransposon-derived 1 - MART1 - Mar1 - PEG11 - - - gene with protein product - - - - Ensembl - ENSG00000254656 - - - Genatlas - RTL1 - - - HGNC - 14665 - - - OMIM - 611896 - - - SwissProt - A6NKG5 - - - ClinVar - RTL1 - - - - - 14q32.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 2796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2796 - Pachydermoperiostosis - - Malformation syndrome - - - Disorder - - - - 22197487[PMID]_22331663[PMID] - - solute carrier organic anion transporter family member 2A1 - SLCO2A1 - - prostaglandin transporter - OATP2A1 - PGT - - - gene with protein product - - - - IUPHAR - 1223 - - - Ensembl - ENSG00000174640 - - - Genatlas - SLCO2A1 - - - HGNC - 10955 - - - OMIM - 601460 - - - Reactome - Q92959 - - - SwissProt - Q92959 - - - ClinVar - SLCO2A1 - - - - - 3q22.1-q22.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 18500342[PMID] - - 15-hydroxyprostaglandin dehydrogenase - HPGD - - SDR36C1 - 15-hydroxyprostaglandin dehydrogenase (NAD(+)) - short chain dehydrogenase/reductase family 36C, member 1 - - - gene with protein product - - - - OMIM - 601688 - - - Reactome - P15428 - - - SwissProt - P15428 - - - ClinVar - HPGD - - - Ensembl - ENSG00000164120 - - - Genatlas - HPGD - - - HGNC - 5154 - - - IUPHAR - 1384 - - - - - 4q34.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 254528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254528 - Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion - - Etiological subtype - - - Subtype of disorder - - - - 18176563[PMID] - - retrotransposon Gag like 1 - RTL1 - - Sushi-Ichi retrotransposon homolog 2 - SIRH2 - HUR1 - paternally expressed 11 - mammalian retrotransposon-derived 1 - MART1 - Mar1 - PEG11 - - - gene with protein product - - - - Ensembl - ENSG00000254656 - - - Genatlas - RTL1 - - - HGNC - 14665 - - - OMIM - 611896 - - - SwissProt - A6NKG5 - - - ClinVar - RTL1 - - - - - 14q32.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 18176563[PMID]_24801763[PMID] - - maternally expressed 3 - MEG3 - - GTL2 - LINC00023 - NCRNA00023 - long intergenic non-protein coding RNA 23 - non-protein coding RNA 23 - onco-lncRNA-83 - gene trap locus 2 - - - Non-coding RNA - - - - Ensembl - ENSG00000214548 - - - Genatlas - MEG3 - - - HGNC - 14575 - - - OMIM - 605636 - - - SwissProt - - - - ClinVar - MEG3 - - - - - 14q32.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 18176563[PMID] - - delta like non-canonical Notch ligand 1 - DLK1 - - Delta1 - FA1 - Pref-1 - ZOG - pG2 - - - gene with protein product - - - - ClinVar - DLK1 - - - Ensembl - ENSG00000185559 - - - Genatlas - DLK1 - - - HGNC - 2907 - - - OMIM - 176290 - - - Reactome - P80370 - - - SwissProt - P80370 - - - - - 14q32.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 2789 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2789 - Lateral meningocele syndrome - - Malformation syndrome - - - Disorder - - - - 25394726[PMID] - - notch receptor 3 - NOTCH3 - - CASIL - - - gene with protein product - - - - Ensembl - ENSG00000074181 - - - Genatlas - NOTCH3 - - - HGNC - 7883 - - - OMIM - 600276 - - - Reactome - Q9UM47 - - - SwissProt - Q9UM47 - - - ClinVar - NOTCH3 - - - IUPHAR - 2860 - - - - - 19p13.12 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 2788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2788 - Osteoporosis-pseudoglioma syndrome - - Disease - - - Disorder - - - - 21407258[PMID]_16679074[PMID]_16252235[PMID] - - LDL receptor related protein 5 - LRP5 - - BMND1 - EVR4 - HBM - LR3 - OPS - OPTA1 - VBCH2 - - - gene with protein product - - - - ClinVar - LRP5 - - - Ensembl - ENSG00000162337 - - - Genatlas - LRP5 - - - HGNC - 6697 - - - OMIM - 603506 - - - Reactome - O75197 - - - SwissProt - O75197 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2791 - Otodental syndrome - - Malformation syndrome - - - Disorder - - - - 17656375[PMID] - - fibroblast growth factor 3 - FGF3 - - HBGF-3 - INT-2 proto-oncogene protein - V-INT2 murine mammary tumor virus integration site oncogene homolog - murine mammary tumor virus integration site 2, mouse - oncogene INT2 - - - gene with protein product - - - - ClinVar - FGF3 - - - Ensembl - ENSG00000186895 - - - Genatlas - FGF3 - - - HGNC - 3681 - - - OMIM - 164950 - - - Reactome - P11487 - - - SwissProt - P11487 - - - - - 11q13.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 2790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2790 - Endosteal hyperostosis, Worth type - - Malformation syndrome - - - Disorder - - - - 12579474[PMID] - - LDL receptor related protein 5 - LRP5 - - BMND1 - EVR4 - HBM - LR3 - OPS - OPTA1 - VBCH2 - - - gene with protein product - - - - ClinVar - LRP5 - - - Ensembl - ENSG00000162337 - - - Genatlas - LRP5 - - - HGNC - 6697 - - - OMIM - 603506 - - - Reactome - O75197 - - - SwissProt - O75197 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2783 - Autosomal dominant osteopetrosis type 1 - - Malformation syndrome - - - Disorder - - - - 21600326[PMID]_12579474[PMID] - - LDL receptor related protein 5 - LRP5 - - BMND1 - EVR4 - HBM - LR3 - OPS - OPTA1 - VBCH2 - - - gene with protein product - - - - ClinVar - LRP5 - - - Ensembl - ENSG00000162337 - - - Genatlas - LRP5 - - - HGNC - 6697 - - - OMIM - 603506 - - - Reactome - O75197 - - - SwissProt - O75197 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 2780 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2780 - Osteopathia striata-cranial sclerosis syndrome - - Malformation syndrome - - - Disorder - - - - 19079258[PMID] - - APC membrane recruitment protein 1 - AMER1 - - FLJ39827 - RP11-403E24.2 - WTX - Wilms Tumor on the X - adenomatous polyposis coli membrane recruitment 1 - - - gene with protein product - - - - Ensembl - ENSG00000184675 - - - Genatlas - AMER1 - - - HGNC - 26837 - - - OMIM - 300647 - - - Reactome - Q5JTC6 - - - SwissProt - Q5JTC6 - - - ClinVar - AMER1 - - - - - Xq11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 38173341[PMID] - - catenin beta 1 - CTNNB1 - - armadillo - beta-catenin - - - gene with protein product - - - - ClinVar - CTNNB1 - - - Ensembl - ENSG00000168036 - - - Genatlas - CTNNB1 - - - HGNC - 2514 - - - OMIM - 116806 - - - Reactome - P35222 - - - SwissProt - P35222 - - - - - 3p22.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667 - Autosomal recessive malignant osteopetrosis - - Malformation syndrome - - - Disorder - - - - 22419446[PMID]_20424301[PMID]_20301306[PMID]_23877423[PMID] - - chloride voltage-gated channel 7 - CLCN7 - - CLC-7 - CLC7 - OPTA2 - PPP1R63 - protein phosphatase 1, regulatory subunit 63 - ClC-7 - - - gene with protein product - - - - OMIM - 602727 - - - Reactome - P51798 - - - SwissProt - P51798 - - - Ensembl - ENSG00000103249 - - - Genatlas - CLCN7 - - - HGNC - 2025 - - - IUPHAR - 706 - - - ClinVar - CLCN7 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20424301[PMID]_15300850[PMID]_21042819[PMID]_23877423[PMID] - - T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 - TCIRG1 - - ATP6N1C - ATP6V0A3 - Atp6i - OC-116 - OC116 - T-cell immune response cDNA 7 - TIRC7 - a3 - V-ATPase subunit a3 - - - gene with protein product - - - - Ensembl - ENSG00000110719 - - - Genatlas - TCIRG1 - - - HGNC - 11647 - - - OMIM - 604592 - - - Reactome - Q13488 - - - SwissProt - Q13488 - - - ClinVar - TCIRG1 - - - IUPHAR - 825 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 17632511[PMID]_23877423[PMID] - - TNF superfamily member 11 - TNFSF11 - - RANKL - TRANCE - CD254 - ODF - OPGL - - - gene with protein product - - - - ClinVar - TNFSF11 - - - Ensembl - ENSG00000120659 - - - Genatlas - TNFSF11 - - - HGNC - 11926 - - - OMIM - 602642 - - - Reactome - O14788 - - - SwissProt - O14788 - - - - - 13q14.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22499339[PMID]_23877423[PMID] - - sorting nexin 10 - SNX10 - - - - gene with protein product - - - - ClinVar - SNX10 - - - Ensembl - ENSG00000086300 - - - Genatlas - SNX10 - - - HGNC - 14974 - - - OMIM - 614780 - - - SwissProt - Q9Y5X0 - - - Reactome - Q9Y5X0 - - - - - 7p15.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2805 - Partial pancreatic agenesis - - Morphological anomaly - - - Disorder - - - - 24212882[PMID] - - pancreas associated transcription factor 1a - PTF1A - - p48 - PTF1-p48 - bHLHa29 - - - gene with protein product - - - - ClinVar - PTF1A - - - Ensembl - ENSG00000168267 - - - Genatlas - PTF1A - - - HGNC - 23734 - - - OMIM - 607194 - - - Reactome - Q7RTS3 - - - SwissProt - Q7RTS3 - - - - - 10p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 8988180[PMID] - - pancreatic and duodenal homeobox 1 - PDX1 - - IDX-1 - MODY4 - PDX-1 - STF-1 - somatostatin transcription factor 1 - Glucose-sensitive factor - insulin upstream factor 1 - IUF-1 - Islet/duodenum homeobox-1 - GSF - - - gene with protein product - - - - ClinVar - PDX1 - - - Ensembl - ENSG00000139515 - - - Genatlas - PDX1 - - - HGNC - 6107 - - - OMIM - 600733 - - - Reactome - P52945 - - - SwissProt - P52945 - - - - - 13q12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 254693 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254693 - Partial hydatidiform mole - - Clinical subtype - - - Subtype of disorder - - - - 19246479[PMID]_24533231[PMID] - - NLR family pyrin domain containing 7 - NLRP7 - - CLR19.4 - NOD12 - PAN7 - PYPAF3 - nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7 - - - gene with protein product - - - - HGNC - 22947 - - - OMIM - 609661 - - - SwissProt - Q8WX94 - - - Ensembl - ENSG00000167634 - - - Genatlas - NLRP7 - - - IUPHAR - 1774 - - - ClinVar - NLRP7 - - - - - 19q13.42 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24533231[PMID] - - KH domain containing 3 like, subcortical maternal complex member - KHDC3L - - ECAT1 - ES cell associated transcript 1 - - - gene with protein product - - - - Ensembl - ENSG00000203908 - - - Genatlas - KHDC3L - - - HGNC - 33699 - - - OMIM - 611687 - - - SwissProt - Q587J8 - - - ClinVar - KHDC3L - - - - - 6q13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2807 - Papilloma of choroid plexus - - Disease - - - Disorder - - - - 12085209[PMID] - - tumor protein p53 - TP53 - - LFS1 - Li-Fraumeni syndrome - P53 - p53 - - - gene with protein product - - - - Ensembl - ENSG00000141510 - - - Genatlas - TP53 - - - HGNC - 11998 - - - OMIM - 191170 - - - Reactome - P04637 - - - SwissProt - P04637 - - - ClinVar - TP53 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=678 - Papillon-Lefèvre syndrome - - Disease - - - Disorder - - - - 16460249[PMID] - - cathepsin C - CTSC - - DPP1 - dipeptidyl peptidase 1 - - - gene with protein product - - - - ClinVar - CTSC - - - Ensembl - ENSG00000109861 - - - Genatlas - CTSC - - - HGNC - 2528 - - - IUPHAR - 2344 - - - OMIM - 602365 - - - Reactome - P53634 - - - SwissProt - P53634 - - - - - 11q14.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 254704 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254704 - Genetic hyperferritinemia without iron overload - - Biological anomaly - - - Disorder - - - - 19176363[PMID] - - ferritin light chain - FTL - - L apoferritin - MGC71996 - NBIA3 - ferritin L subunit - ferritin L-chain - ferritin light polypeptide-like 3 - neurodegeneration with brain iron accumulation 3 - FTL1 - - - gene with protein product - - - - ClinVar - FTL - - - Ensembl - ENSG00000087086 - - - Genatlas - FTL - - - HGNC - 3999 - - - OMIM - 134790 - - - Reactome - P02792 - - - SwissProt - P02792 - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 254534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254534 - Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation - - Etiological subtype - - - Subtype of disorder - - - - 18176563[PMID] - - delta like non-canonical Notch ligand 1 - DLK1 - - Delta1 - FA1 - Pref-1 - ZOG - pG2 - - - gene with protein product - - - - ClinVar - DLK1 - - - Ensembl - ENSG00000185559 - - - Genatlas - DLK1 - - - HGNC - 2907 - - - OMIM - 176290 - - - Reactome - P80370 - - - SwissProt - P80370 - - - - - 14q32.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 18176563[PMID]_24801763[PMID] - - maternally expressed 3 - MEG3 - - GTL2 - LINC00023 - NCRNA00023 - long intergenic non-protein coding RNA 23 - non-protein coding RNA 23 - onco-lncRNA-83 - gene trap locus 2 - - - Non-coding RNA - - - - Ensembl - ENSG00000214548 - - - Genatlas - MEG3 - - - HGNC - 14575 - - - OMIM - 605636 - - - SwissProt - - - - ClinVar - MEG3 - - - - - 14q32.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 18176563[PMID] - - retrotransposon Gag like 1 - RTL1 - - Sushi-Ichi retrotransposon homolog 2 - SIRH2 - HUR1 - paternally expressed 11 - mammalian retrotransposon-derived 1 - MART1 - Mar1 - PEG11 - - - gene with protein product - - - - Ensembl - ENSG00000254656 - - - Genatlas - RTL1 - - - HGNC - 14665 - - - OMIM - 611896 - - - SwissProt - A6NKG5 - - - ClinVar - RTL1 - - - - - 14q32.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 2802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2802 - X-linked sideroblastic anemia and spinocerebellar ataxia - - Disease - - - Disorder - - - - 20301496[PMID] - - ATP binding cassette subfamily B member 7 - ABCB7 - - ASAT - Atm1p - EST140535 - - - gene with protein product - - - - ClinVar - ABCB7 - - - IUPHAR - 774 - - - Ensembl - ENSG00000131269 - - - Genatlas - ABCB7 - - - HGNC - 48 - - - OMIM - 300135 - - - Reactome - O75027 - - - SwissProt - O75027 - - - - - Xq13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 254531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254531 - Temple syndrome due to paternal 14q32.2 hypomethylation - - Etiological subtype - - - Subtype of disorder - - - - 18176563[PMID] - - retrotransposon Gag like 1 - RTL1 - - Sushi-Ichi retrotransposon homolog 2 - SIRH2 - HUR1 - paternally expressed 11 - mammalian retrotransposon-derived 1 - MART1 - Mar1 - PEG11 - - - gene with protein product - - - - Ensembl - ENSG00000254656 - - - Genatlas - RTL1 - - - HGNC - 14665 - - - OMIM - 611896 - - - SwissProt - A6NKG5 - - - ClinVar - RTL1 - - - - - 14q32.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 18176563[PMID]_24801763[PMID] - - maternally expressed 3 - MEG3 - - GTL2 - LINC00023 - NCRNA00023 - long intergenic non-protein coding RNA 23 - non-protein coding RNA 23 - onco-lncRNA-83 - gene trap locus 2 - - - Non-coding RNA - - - - Ensembl - ENSG00000214548 - - - Genatlas - MEG3 - - - HGNC - 14575 - - - OMIM - 605636 - - - SwissProt - - - - ClinVar - MEG3 - - - - - 14q32.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 18176563[PMID] - - delta like non-canonical Notch ligand 1 - DLK1 - - Delta1 - FA1 - Pref-1 - ZOG - pG2 - - - gene with protein product - - - - ClinVar - DLK1 - - - Ensembl - ENSG00000185559 - - - Genatlas - DLK1 - - - HGNC - 2907 - - - OMIM - 176290 - - - Reactome - P80370 - - - SwissProt - P80370 - - - - - 14q32.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 254688 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254688 - Complete hydatidiform mole - - Clinical subtype - - - Subtype of disorder - - - - 19246479[PMID]_24533231[PMID] - - NLR family pyrin domain containing 7 - NLRP7 - - CLR19.4 - NOD12 - PAN7 - PYPAF3 - nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7 - - - gene with protein product - - - - HGNC - 22947 - - - OMIM - 609661 - - - SwissProt - Q8WX94 - - - Ensembl - ENSG00000167634 - - - Genatlas - NLRP7 - - - IUPHAR - 1774 - - - ClinVar - NLRP7 - - - - - 19q13.42 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21885028[PMID]_24533231[PMID] - - KH domain containing 3 like, subcortical maternal complex member - KHDC3L - - ECAT1 - ES cell associated transcript 1 - - - gene with protein product - - - - Ensembl - ENSG00000203908 - - - Genatlas - KHDC3L - - - HGNC - 33699 - - - OMIM - 611687 - - - SwissProt - Q587J8 - - - ClinVar - KHDC3L - - - - - 6q13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30388401[PMID] - - meiotic double-stranded break formation protein 1 - MEI1 - - MGC40042 - SPATA38 - spermatogenesis associated 38 - - - gene with protein product - - - - HGNC - 28613 - - - Ensembl - ENSG00000167077 - - - SwissProt - Q5TIA1 - - - OMIM - 608797 - - - - - 22q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30388401[PMID] - - TOP6B like initiator of meiotic double strand breaks - TOP6BL - - FLJ22531 - TOPOVIBL - - - gene with protein product - - - - HGNC - 26197 - - - Ensembl - ENSG00000173715 - - - SwissProt - Q8N6T0 - - - OMIM - 616109 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2498 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2498 - Syndactyly type 8 - - Morphological anomaly - - - Disorder - - - - 23709756[PMID] - - fibroblast growth factor 16 - FGF16 - - - - gene with protein product - - - - Genatlas - FGF16 - - - HGNC - 3672 - - - OMIM - 300827 - - - Reactome - O43320 - - - SwissProt - O43320 - - - Ensembl - ENSG00000196468 - - - ClinVar - FGF16 - - - - - Xq21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2499 - Metachondromatosis - - Malformation syndrome - - - Disorder - - - - 21533187[PMID] - - protein tyrosine phosphatase non-receptor type 11 - PTPN11 - - BPTP3 - PTP2C - SH-PTP2 - SHP-2 - SHP2 - SH2 domain-containing protein tyrosine phosphatase 2 - - - gene with protein product - - - - ClinVar - PTPN11 - - - Ensembl - ENSG00000179295 - - - Genatlas - PTPN11 - - - HGNC - 9644 - - - OMIM - 176876 - - - Reactome - Q06124 - - - SwissProt - Q06124 - - - IUPHAR - 3203 - - - - - 12q24.13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2500 - Acrogeria - - Malformation syndrome - - - Disorder - - - - 10819545[PMID] - - collagen type III alpha 1 chain - COL3A1 - - - - gene with protein product - - - - ClinVar - COL3A1 - - - Ensembl - ENSG00000168542 - - - Genatlas - COL3A1 - - - HGNC - 2201 - - - OMIM - 120180 - - - Reactome - P02461 - - - SwissProt - P02461 - - - - - 2q32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2501 - Metaphyseal chondrodysplasia, Spahr type - - Disease - - - Disorder - - - - 24648384[PMID] - - matrix metallopeptidase 13 - MMP13 - - CLG3 - collagenase 3 - - - gene with protein product - - - - Ensembl - ENSG00000137745 - - - Genatlas - MMP13 - - - HGNC - 7159 - - - IUPHAR - 1637 - - - OMIM - 600108 - - - Reactome - P45452 - - - SwissProt - P45452 - - - ClinVar - MMP13 - - - - - 11q22.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2504 - Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome - - Malformation syndrome - - - Disorder - - - - 23290074[PMID] - - RUNX family transcription factor 2 - RUNX2 - - AML3 - PEBP2A1 - PEBP2aA1 - - - gene with protein product - - - - ClinVar - RUNX2 - - - Ensembl - ENSG00000124813 - - - Genatlas - RUNX2 - - - HGNC - 10472 - - - OMIM - 600211 - - - Reactome - Q13950 - - - SwissProt - Q13950 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 2505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2505 - Multiple benign circumferential skin creases on limbs - - Disease - - - Disorder - - - - 26637975[PMID] - - microtubule associated protein RP/EB family member 2 - MAPRE2 - - APC-binding protein EB1 - EB1 - EB2 - RP1 - - - gene with protein product - - - - Reactome - Q15555 - - - Ensembl - ENSG00000166974 - - - Genatlas - MAPRE2 - - - HGNC - 6891 - - - OMIM - 605789 - - - SwissProt - Q15555 - - - ClinVar - MAPRE2 - - - - - 18q12.1-q12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26637975[PMID] - - tubulin beta class I - TUBB - - M40 - MGC16435 - OK/SW-cl.56 - Tubb5 - beta1-tubulin - class I beta-tubulin - - - gene with protein product - - - - Ensembl - ENSG00000196230 - - - Genatlas - TUBB - - - HGNC - 20778 - - - IUPHAR - 2640 - - - OMIM - 191130 - - - Reactome - P07437 - - - SwissProt - P07437 - - - ClinVar - TUBB - - - - - 6p21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510 - Micro syndrome - - Malformation syndrome - - - Disorder - - - - 23420520[PMID] - - RAB3 GTPase activating protein catalytic subunit 1 - RAB3GAP1 - - KIAA0066 - RAB3GAP - RAB3GAP130 - WARBM1 - - - gene with protein product - - - - Reactome - Q15042 - - - ClinVar - RAB3GAP1 - - - Genatlas - RAB3GAP1 - - - HGNC - 17063 - - - OMIM - 602536 - - - SwissProt - Q15042 - - - Ensembl - ENSG00000115839 - - - - - 2q21.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23420520[PMID] - - RAB3 GTPase activating non-catalytic protein subunit 2 - RAB3GAP2 - - DKFZP434D245 - KIAA0839 - RAB3-GAP150 - SPG69 - - - gene with protein product - - - - Reactome - Q9H2M9 - - - ClinVar - RAB3GAP2 - - - Ensembl - ENSG00000118873 - - - Genatlas - RAB3GAP2 - - - HGNC - 17168 - - - OMIM - 609275 - - - SwissProt - Q9H2M9 - - - - - 1q41 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23420520[PMID] - - RAB18, member RAS oncogene family - RAB18 - - - - gene with protein product - - - - ClinVar - RAB18 - - - Ensembl - ENSG00000099246 - - - Genatlas - RAB18 - - - HGNC - 14244 - - - OMIM - 602207 - - - SwissProt - Q9NP72 - - - Reactome - Q9NP72 - - - - - 10p12.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24239381[PMID] - - TBC1 domain family member 20 - TBC1D20 - - dJ852M4.2 - - - gene with protein product - - - - Ensembl - ENSG00000125875 - - - Genatlas - TBC1D20 - - - HGNC - 16133 - - - OMIM - 611663 - - - SwissProt - Q96BZ9 - - - Reactome - Q96BZ9 - - - ClinVar - TBC1D20 - - - - - 20p13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2508 - Corpus callosum agenesis-abnormal genitalia syndrome - - Malformation syndrome - - - Disorder - - - - 14722918[PMID] - - aristaless related homeobox - ARX - - CT121 - EIEE1 - ISSX - cancer/testis antigen 121 - - - gene with protein product - - - - ClinVar - ARX - - - SwissProt - Q96QS3 - - - Ensembl - ENSG00000004848 - - - Genatlas - ARX - - - HGNC - 18060 - - - OMIM - 300382 - - - - - Xp21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2514 - Autosomal dominant primary microcephaly - - Etiological subtype - - - Subtype of disorder - - - - 23832105[PMID] - - dipeptidyl peptidase like 6 - DPP6 - - DPL1 - DPPX - - - gene with protein product - - - - Ensembl - ENSG00000130226 - - - Genatlas - DPP6 - - - HGNC - 3010 - - - OMIM - 126141 - - - SwissProt - P42658 - - - ClinVar - DPP6 - - - - - 7q36.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 32910914[PMID] - - lamin B1 - LMNB1 - - - - gene with protein product - - - - ClinVar - LMNB1 - - - Ensembl - ENSG00000113368 - - - Genatlas - LMNB1 - - - HGNC - 6637 - - - OMIM - 150340 - - - Reactome - P20700 - - - SwissProt - P20700 - - - - - 5q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2518 - Autosomal recessive chorioretinopathy-microcephaly syndrome - - Malformation syndrome - - - Disorder - - - - 27650967[PMID] - - polo like kinase 4 - PLK4 - - Sak - - - gene with protein product - - - - ClinVar - PLK4 - - - Ensembl - ENSG00000142731 - - - Genatlas - PLK4 - - - HGNC - 11397 - - - IUPHAR - 2171 - - - OMIM - 605031 - - - Reactome - O00444 - - - SwissProt - O00444 - - - - - 4q28.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22279524[PMID] - - tubulin gamma complex component 6 - TUBGCP6 - - DJ402G11.6 - GCP6 - Gamma-tubulin complex component 6 - KIAA1669 - gamma-tubulin complex component 6 - - - gene with protein product - - - - Ensembl - ENSG00000128159 - - - Genatlas - TUBGCP6 - - - HGNC - 18127 - - - OMIM - 610053 - - - Reactome - Q96RT7 - - - SwissProt - Q96RT7 - - - ClinVar - TUBGCP6 - - - - - 22q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25817018[PMID] - - tubulin gamma complex component 4 - TUBGCP4 - - 76P - FLJ14797 - gamma-tubulin complex protein 4 - GCP4 - gamma-ring complex protein 76 kDa - - - gene with protein product - - - - OMIM - 609610 - - - Reactome - Q9UGJ1 - - - SwissProt - Q9UGJ1 - - - Ensembl - ENSG00000137822 - - - Genatlas - TUBGCP4 - - - HGNC - 16691 - - - ClinVar - TUBGCP4 - - - - - 15q15.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2524 - Pontocerebellar hypoplasia type 2 - - Malformation syndrome - - - Disorder - - - - 27392077[PMID] - - tRNA splicing endonuclease subunit 15 - TSEN15 - - - - gene with protein product - - - - HGNC - 16791 - - - OMIM - 608756 - - - SwissProt - Q8WW01 - - - Genatlas - TSEN15 - - - Reactome - Q8WW01 - - - Ensembl - ENSG00000198860 - - - ClinVar - TSEN15 - - - - - 1q25.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301773[PMID] - - tRNA splicing endonuclease subunit 54 - TSEN54 - - SEN54 - SEN54L - - - gene with protein product - - - - Ensembl - ENSG00000182173 - - - Genatlas - TSEN54 - - - HGNC - 27561 - - - OMIM - 608755 - - - Reactome - Q7Z6J9 - - - ClinVar - TSEN54 - - - SwissProt - Q7Z6J9 - - - - - 17q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18711368[PMID] - - tRNA splicing endonuclease subunit 34 - TSEN34 - - SEN34 - SEN34L - - - gene with protein product - - - - Ensembl - ENSG00000170892 - - - Genatlas - TSEN34 - - - HGNC - 15506 - - - OMIM - 608754 - - - Reactome - Q9BSV6 - - - SwissProt - Q9BSV6 - - - ClinVar - TSEN34 - - - - - 19q13.42 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23562994[PMID] - - tRNA splicing endonuclease subunit 2 - TSEN2 - - MGC2776 - SEN2 - SEN2L - - - gene with protein product - - - - Genatlas - TSEN2 - - - HGNC - 28422 - - - OMIM - 608753 - - - Reactome - Q8NCE0 - - - SwissProt - Q8NCE0 - - - Ensembl - ENSG00000154743 - - - ClinVar - TSEN2 - - - - - 3p25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20920667[PMID] - - Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase - SEPSECS - - SLA - SLA/LP - soluble liver antigen/liver pancreas antigen - O-phosphoseryl-tRNA(Sec) selenium transferase - SecS - SLA-p35 - - - gene with protein product - - - - ClinVar - SEPSECS - - - Ensembl - ENSG00000109618 - - - Genatlas - SEPSECS - - - HGNC - 30605 - - - OMIM - 613009 - - - Reactome - Q9HD40 - - - SwissProt - Q9HD40 - - - - - 4p15.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2526 - Microcephaly-lymphedema-chorioretinopathy syndrome - - Malformation syndrome - - - Disorder - - - - 22284827[PMID] - - kinesin family member 11 - KIF11 - - Eg5 - HKSP - TRIP5 - - - gene with protein product - - - - Ensembl - ENSG00000138160 - - - Genatlas - KIF11 - - - HGNC - 6388 - - - OMIM - 148760 - - - Reactome - P52732 - - - SwissProt - P52732 - - - IUPHAR - 2788 - - - ClinVar - KIF11 - - - - - 10q23.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2554 - Ear-patella-short stature syndrome - - Malformation syndrome - - - Disorder - - - - 23516378[PMID]_21358632[PMID] - - origin recognition complex subunit 4 - ORC4 - - HsORC4 - Orc4p - - - gene with protein product - - - - Ensembl - ENSG00000115947 - - - Genatlas - ORC4 - - - HGNC - 8490 - - - OMIM - 603056 - - - Reactome - O43929 - - - SwissProt - O43929 - - - ClinVar - ORC4 - - - - - 2q23.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23516378[PMID]_21358632[PMID] - - origin recognition complex subunit 6 - ORC6 - - - - gene with protein product - - - - Ensembl - ENSG00000091651 - - - Genatlas - ORC6 - - - HGNC - 17151 - - - OMIM - 607213 - - - Reactome - Q9Y5N6 - - - SwissProt - Q9Y5N6 - - - ClinVar - ORC6 - - - - - 16q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23516378[PMID]_21358632[PMID] - - chromatin licensing and DNA replication factor 1 - CDT1 - - DUP - RIS2 - - - gene with protein product - - - - ClinVar - CDT1 - - - Ensembl - ENSG00000167513 - - - Genatlas - CDT1 - - - HGNC - 24576 - - - OMIM - 605525 - - - Reactome - Q9H211 - - - SwissProt - Q9H211 - - - - - 16q24.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23516378[PMID]_21358632[PMID] - - cell division cycle 6 - CDC6 - - - - gene with protein product - - - - ClinVar - CDC6 - - - OMIM - 602627 - - - Reactome - Q99741 - - - SwissProt - Q99741 - - - Ensembl - ENSG00000094804 - - - Genatlas - CDC6 - - - HGNC - 1744 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23516378[PMID]_21358632[PMID] - - origin recognition complex subunit 1 - ORC1 - - HSORC1 - PARC1 - origin recognition complex 1 - origin recognition complex, subunit 1, S. cerevisiae, homolog-like - replication control protein 1 - - - gene with protein product - - - - ClinVar - ORC1 - - - Ensembl - ENSG00000085840 - - - Genatlas - ORC1 - - - HGNC - 8487 - - - OMIM - 601902 - - - Reactome - Q13415 - - - SwissProt - Q13415 - - - - - 1p32.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 26637980[PMID] - - geminin DNA replication inhibitor - GMNN - - Gem - - - gene with protein product - - - - Ensembl - ENSG00000112312 - - - Genatlas - GMNN - - - HGNC - 17493 - - - OMIM - 602842 - - - Reactome - O75496 - - - SwissProt - O75496 - - - ClinVar - GMNN - - - - - 6p22.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 27374770[PMID] - - cell division cycle 45 - CDC45 - - human CDC45 - - - gene with protein product - - - - ClinVar - CDC45 - - - HGNC - 1739 - - - OMIM - 603465 - - - Genatlas - CDC45 - - - SwissProt - O75419 - - - Reactome - O75419 - - - Ensembl - ENSG00000093009 - - - - - 22q11.21 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2556 - Microphthalmia with linear skin defects syndrome - - Malformation syndrome - - - Disorder - - - - 17033964[PMID] - - holocytochrome c synthase - HCCS - - CCHL - cytochrome c heme-lyase - holocytochrome-c synthetase - - - gene with protein product - - - - ClinVar - HCCS - - - Ensembl - ENSG00000004961 - - - Genatlas - HCCS - - - HGNC - 4837 - - - OMIM - 300056 - - - SwissProt - P53701 - - - - - Xp22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23122588[PMID] - - cytochrome c oxidase subunit 7B - COX7B - - - - gene with protein product - - - - Ensembl - ENSG00000131174 - - - Genatlas - COX7B - - - HGNC - 2291 - - - OMIM - 300885 - - - Reactome - P24311 - - - SwissProt - P24311 - - - ClinVar - COX7B - - - - - Xq21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25772934[PMID] - - NADH:ubiquinone oxidoreductase subunit B11 - NDUFB11 - - ESSS - NP17.3 - Np15 - complex I NP17.3 subunit - - - gene with protein product - - - - Ensembl - ENSG00000147123 - - - Genatlas - NDUFB11 - - - HGNC - 20372 - - - OMIM - 300403 - - - Reactome - Q9NX14 - - - SwissProt - Q9NX14 - - - ClinVar - NDUFB11 - - - - - Xp11.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=575 - Muckle-Wells syndrome - - Disease - - - Disorder - - - - 11687797[PMID] - - NLR family pyrin domain containing 3 - NLRP3 - - AGTAVPRL - AII - AVP - CLR1.1 - Cryopyrin - FCAS - FCU - MWS - NALP3 - PYPAF1 - nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3 - - - gene with protein product - - - - Ensembl - ENSG00000162711 - - - Genatlas - NLRP3 - - - HGNC - 16400 - - - OMIM - 606416 - - - Reactome - Q96P20 - - - SwissProt - Q96P20 - - - IUPHAR - 1770 - - - ClinVar - NLRP3 - - - - - 1q44 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2573 - Moyamoya disease - - Disease - - - Disorder - - - - 34125151[PMID] - - diaphanous related formin 1 - DIAPH1 - - LFHL1 - hDIA1 - mDia1 - mammalian diaphanous related formin 1 - - - gene with protein product - - - - Ensembl - ENSG00000131504 - - - Genatlas - DIAPH1 - - - HGNC - 2876 - - - OMIM - 602121 - - - Reactome - O60610 - - - SwissProt - O60610 - - - ClinVar - DIAPH1 - - - - - 5q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19409525[PMID]_20970362[PMID] - - actin alpha 2, smooth muscle - ACTA2 - - ACTSA - - - gene with protein product - - - - ClinVar - ACTA2 - - - Ensembl - ENSG00000107796 - - - Genatlas - ACTA2 - - - HGNC - 130 - - - OMIM - 102620 - - - Reactome - P62736 - - - SwissProt - P62736 - - - - - 10q23.31 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 21048783[PMID]_21799892[PMID]_22377813[PMID] - - ring finger protein 213 - RNF213 - - KIAA1554 - NET57 - ALK lymphoma oligomerization partner on chromosome 17 - ALO17 - mysterin - - - gene with protein product - - - - ClinVar - RNF213 - - - Reactome - Q63HN8 - - - Ensembl - ENSG00000173821 - - - Genatlas - RNF213 - - - HGNC - 14539 - - - OMIM - 613768 - - - SwissProt - Q63HN8 - - - - - 17q25.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 2570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2570 - Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome - - Malformation syndrome - - - Disorder - - - - 28612833[PMID] - - G-patch domain and KOW motifs - GPKOW - - T54 - GPATC5 - GPATCH5 - Spp2 - G patch domain containing 5 - Mos2 - - - gene with protein product - - - - HGNC - 30677 - - - Ensembl - ENSG00000068394 - - - SwissProt - Q92917 - - - Reactome - Q92917 - - - OMIM - 301003 - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 261183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261183 - 15q11.2 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - 25689425[PMID] - - NIPA magnesium transporter 1 - NIPA1 - - SLC57A1 - MGC35570 - - - gene with protein product - - - - Ensembl - ENSG00000170113 - - - Genatlas - NIPA1 - - - HGNC - 17043 - - - OMIM - 608145 - - - Reactome - Q7RTP0 - - - SwissProt - Q7RTP0 - - - IUPHAR - 3033 - - - ClinVar - NIPA1 - - - - - 15q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 25689425[PMID] - - NIPA magnesium transporter 2 - NIPA2 - - SLC57A2 - - - gene with protein product - - - - Genatlas - NIPA2 - - - ClinVar - NIPA2 - - - IUPHAR - 3034 - - - Reactome - Q8N8Q9 - - - HGNC - 17044 - - - OMIM - 608146 - - - Ensembl - ENSG00000140157 - - - SwissProt - Q8N8Q9 - - - - - 15q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 25689425[PMID] - - tubulin gamma 1 - TUBG1 - - TUBGCP1 - - - gene with protein product - - - - HGNC - 12417 - - - Genatlas - TUBG1 - - - ClinVar - TUBG1 - - - SwissProt - P23258 - - - Ensembl - ENSG00000131462 - - - OMIM - 191135 - - - Reactome - P23258 - - - - - 17q21.31 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 2585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2585 - Ataxia-pancytopenia syndrome - - Malformation syndrome - - - Disorder - - - - 27259050[PMID] - - sterile alpha motif domain containing 9 like - SAMD9L - - FLJ39885 - KIAA2005 - - - gene with protein product - - - - HGNC - 1349 - - - OMIM - 611170 - - - Genatlas - SAMD9L - - - ClinVar - SAMD9L - - - SwissProt - Q8IVG5 - - - Ensembl - ENSG00000177409 - - - - - 7q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 261144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261144 - FOXG1 syndrome due to 14q12 microdeletion - - Clinical subtype - - - Subtype of disorder - - - - 23895774[PMID] - - forkhead box G1 - FOXG1 - - brain factor 1 - BF1 - HBF-3 - HFK1 - HFK2 - HFK3 - QIN - - - gene with protein product - - - - ClinVar - FOXG1 - - - Ensembl - ENSG00000176165 - - - Genatlas - FOXG1 - - - HGNC - 3811 - - - OMIM - 164874 - - - SwissProt - P55316 - - - - - 14q12 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 2578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2578 - Mayer-Rokitansky-Küster-Hauser syndrome type 2 - - Clinical subtype - - - Subtype of disorder - - - - 36282544[PMID] - - HNF1 homeobox B - HNF1B - - HNF1beta - LFB3 - MODY5 - VHNF1 - HNF1ß - hepatocyte nuclear factor 1 beta - - - gene with protein product - - - - ClinVar - HNF1B - - - Ensembl - ENSG00000275410 - - - Genatlas - HNF1B - - - HGNC - 11630 - - - OMIM - 189907 - - - Reactome - P35680 - - - SwissProt - P35680 - - - - - 17q12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 18182450[PMID] - - Wnt family member 4 - WNT4 - - WNT-4 - - - gene with protein product - - - - ClinVar - WNT4 - - - Ensembl - ENSG00000162552 - - - Genatlas - WNT4 - - - HGNC - 12783 - - - OMIM - 603490 - - - Reactome - P56705 - - - SwissProt - P56705 - - - - - 1p36.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2576 - Mulibrey nanism - - Malformation syndrome - - - Disorder - - - - 19347900[PMID] - - tripartite motif containing 37 - TRIM37 - - KIAA0898 - POB1 - RING-B-box-coiled-coil protein - TEF3 - E3 ubiquitin-protein ligase TRIM37 - - - gene with protein product - - - - ClinVar - TRIM37 - - - Ensembl - ENSG00000108395 - - - Genatlas - TRIM37 - - - HGNC - 7523 - - - OMIM - 605073 - - - Reactome - O94972 - - - SwissProt - O94972 - - - - - 17q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 261222 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261222 - Distal 16p11.2 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - - - SH2B adaptor protein 1 - SH2B1 - - FLJ30542 - SH2-B homolog - SH2B - - - gene with protein product - - - - HGNC - 30417 - - - OMIM - 608937 - - - Reactome - Q9NRF2 - - - SwissProt - Q9NRF2 - - - ClinVar - SH2B1 - - - Ensembl - ENSG00000178188 - - - Genatlas - SH2B1 - - - - - 16p11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 1359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1359 - Carney complex - - Disease - - - Disorder - - - - 20301463[PMID] - - protein kinase cAMP-dependent type I regulatory subunit alpha - PRKAR1A - - CNC1 - Carney complex type 1 - - - gene with protein product - - - - Ensembl - ENSG00000108946 - - - Genatlas - PRKAR1A - - - HGNC - 9388 - - - IUPHAR - 1472 - - - OMIM - 188830 - - - Reactome - P10644 - - - SwissProt - P10644 - - - ClinVar - PRKAR1A - - - - - 17q24.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 21047926[PMID] - - phosphodiesterase 11A - PDE11A - - Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A - - - gene with protein product - - - - Ensembl - ENSG00000128655 - - - Genatlas - PDE11A - - - HGNC - 8773 - - - OMIM - 604961 - - - Reactome - Q9HCR9 - - - SwissProt - Q9HCR9 - - - IUPHAR - 1311 - - - ClinVar - PDE11A - - - - - 2q31.2 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - - - 2593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2593 - Tubular aggregate myopathy - - Disease - - - Disorder - - - - 24591628[PMID] - - ORAI calcium release-activated calcium modulator 1 - ORAI1 - - CRACM1 - FLJ14466 - calcium release-activated calcium modulator 1 - - - gene with protein product - - - - Ensembl - ENSG00000276045 - - - Genatlas - ORAI1 - - - HGNC - 25896 - - - OMIM - 610277 - - - Reactome - Q96D31 - - - SwissProt - Q96D31 - - - IUPHAR - 2964 - - - ClinVar - ORAI1 - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 23332920[PMID] - - stromal interaction molecule 1 - STIM1 - - D11S4896E - GOK - - - gene with protein product - - - - Genatlas - STIM1 - - - HGNC - 11386 - - - OMIM - 605921 - - - Reactome - Q13586 - - - SwissProt - Q13586 - - - Ensembl - ENSG00000167323 - - - ClinVar - STIM1 - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 28895244[PMID]_29039140[PMID] - - calsequestrin 1 - CASQ1 - - CSQ1 - PDIB1 - calmitine - calsequestrin 1, fast-twitch, skeletal muscle - - - gene with protein product - - - - Ensembl - ENSG00000143318 - - - Genatlas - CASQ1 - - - HGNC - 1512 - - - OMIM - 114250 - - - Reactome - P31415 - - - SwissProt - P31415 - - - ClinVar - CASQ1 - - - - - 1q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 261229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261229 - 14q11.2 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - 31823155[PMID]_26834018[PMID] - - chromodomain helicase DNA binding protein 8 - CHD8 - - DUPLIN - KIAA1564 - - - gene with protein product - - - - Ensembl - ENSG00000100888 - - - Genatlas - CHD8 - - - HGNC - 20153 - - - OMIM - 610528 - - - Reactome - Q9HCK8 - - - SwissProt - Q9HCK8 - - - ClinVar - CHD8 - - - - - 14q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 31823155[PMID]_26834018[PMID] - - SPT16 homolog, facilitates chromatin remodeling subunit - SUPT16H - - FACT - FACTP140 - SPT16/CDC68 - FLJ14010 - FLJ10857 - CDC68 - facilitates chromatin remodeling 140 kDa subunit - - - gene with protein product - - - - Ensembl - ENSG00000092201 - - - OMIM - 605012 - - - Reactome - Q9Y5B9 - - - SwissProt - Q9Y5B9 - - - HGNC - 11465 - - - - - 14q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 2590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2590 - Spinal muscular atrophy-progressive myoclonic epilepsy syndrome - - Disease - - - Disorder - - - - 22703880[PMID] - - N-acylsphingosine amidohydrolase 1 - ASAH1 - - AC - FLJ21558 - PHP32 - ACDase - acid ceramidase - acylsphingosine deacylase - - - gene with protein product - - - - IUPHAR - 2491 - - - ClinVar - ASAH1 - - - Ensembl - ENSG00000104763 - - - Genatlas - ASAH1 - - - HGNC - 735 - - - OMIM - 613468 - - - Reactome - Q13510 - - - SwissProt - Q13510 - - - - - 8p22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2588 - Myhre syndrome - - Malformation syndrome - - - Disorder - - - - 22243968[PMID]_22158539[PMID]_24398790[PMID]_24715504[PMID]_24580733[PMID] - - SMAD family member 4 - SMAD4 - - DPC4 - - - gene with protein product - - - - ClinVar - SMAD4 - - - Ensembl - ENSG00000141646 - - - Genatlas - SMAD4 - - - HGNC - 6770 - - - OMIM - 600993 - - - Reactome - Q13485 - - - SwissProt - Q13485 - - - - - 18q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 261190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261190 - Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion - - Clinical subtype - - - Subtype of disorder - - - - 21504564[PMID]_20425846[PMID]_18561338[PMID]_18458017[PMID]_17163532[PMID]_24678003[PMID] - - Meis homeobox 2 - MEIS2 - - HsT18361 - MRG1 - - - gene with protein product - - - - ClinVar - MEIS2 - - - Ensembl - ENSG00000134138 - - - Genatlas - MEIS2 - - - HGNC - 7001 - - - OMIM - 601740 - - - SwissProt - O14770 - - - - - 15q14 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 261197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261197 - Proximal 16p11.2 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - - - SH2B adaptor protein 1 - SH2B1 - - FLJ30542 - SH2-B homolog - SH2B - - - gene with protein product - - - - HGNC - 30417 - - - OMIM - 608937 - - - Reactome - Q9NRF2 - - - SwissProt - Q9NRF2 - - - ClinVar - SH2B1 - - - Ensembl - ENSG00000178188 - - - Genatlas - SH2B1 - - - - - 16p11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 261295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261295 - 20p12.3 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - 18812404[PMID]_21671386[PMID] - - bone morphogenetic protein 2 - BMP2 - - - - gene with protein product - - - - ClinVar - BMP2 - - - Ensembl - ENSG00000125845 - - - Genatlas - BMP2 - - - HGNC - 1069 - - - OMIM - 112261 - - - Reactome - P12643 - - - SwissProt - P12643 - - - - - 20p12.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 261279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261279 - 17q23.1q23.2 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - 21271665[PMID] - - T-box transcription factor 4 - TBX4 - - - - gene with protein product - - - - Ensembl - ENSG00000121075 - - - Genatlas - TBX4 - - - HGNC - 11603 - - - OMIM - 601719 - - - SwissProt - P57082 - - - ClinVar - TBX4 - - - - - 17q23.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 261265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261265 - 17q12 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - - - HNF1 homeobox B - HNF1B - - HNF1beta - LFB3 - MODY5 - VHNF1 - HNF1ß - hepatocyte nuclear factor 1 beta - - - gene with protein product - - - - ClinVar - HNF1B - - - Ensembl - ENSG00000275410 - - - Genatlas - HNF1B - - - HGNC - 11630 - - - OMIM - 189907 - - - Reactome - P35680 - - - SwissProt - P35680 - - - - - 17q12 - 1 - - - - - Role in the phenotype of - - - Not yet assessed - - - - 22740494[PMID] - - LIM homeobox 1 - LHX1 - - LIM-1 - LIM1 - LIM/homeobox protein Lhx1 - - - gene with protein product - - - - Ensembl - ENSG00000273706 - - - Genatlas - LHX1 - - - HGNC - 6593 - - - OMIM - 601999 - - - SwissProt - P48742 - - - ClinVar - LHX1 - - - - - 17q12 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 2616 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2616 - 3M syndrome - - Malformation syndrome - - - Disorder - - - - 20301654[PMID] - - cullin 7 - CUL7 - - dJ20C7.5 - - - gene with protein product - - - - ClinVar - CUL7 - - - Ensembl - ENSG00000044090 - - - Genatlas - CUL7 - - - HGNC - 21024 - - - OMIM - 609577 - - - Reactome - Q14999 - - - SwissProt - Q14999 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301654[PMID] - - obscurin like cytoskeletal adaptor 1 - OBSL1 - - KIAA0657 - - - gene with protein product - - - - Reactome - O75147 - - - Ensembl - ENSG00000124006 - - - Genatlas - OBSL1 - - - HGNC - 29092 - - - OMIM - 610991 - - - SwissProt - O75147 - - - ClinVar - OBSL1 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301654[PMID]_21737058[PMID] - - coiled-coil domain containing 8 - CCDC8 - - p90 - 3M3 - DKFZp564K0322 - PPP1R20 - protein phosphatase 1, regulatory subunit 20 - - - gene with protein product - - - - ClinVar - CCDC8 - - - Ensembl - ENSG00000169515 - - - Genatlas - CCDC8 - - - HGNC - 25367 - - - OMIM - 614145 - - - SwissProt - Q9H0W5 - - - Reactome - Q9H0W5 - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 261250 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261250 - 16q24.3 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - - - ankyrin repeat domain containing 11 - ANKRD11 - - LZ16 - T13 - ankyrin repeats containing cofactor 1 - ANCO-1 - ANCO1 - - - gene with protein product - - - - ClinVar - ANKRD11 - - - Ensembl - ENSG00000167522 - - - Genatlas - ANKRD11 - - - HGNC - 21316 - - - OMIM - 611192 - - - SwissProt - Q6UB99 - - - - - 16q24.3 - 1 - - - - - Role in the phenotype of - - - Not yet assessed - - - - - - 2613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2613 - Nail-patella-like renal disease - - Disease - - - Disorder - - - - 25713721[PMID]_24042019[PMID] - - LIM homeobox transcription factor 1 beta - LMX1B - - - - gene with protein product - - - - ClinVar - LMX1B - - - Ensembl - ENSG00000136944 - - - Genatlas - LMX1B - - - HGNC - 6654 - - - OMIM - 602575 - - - SwissProt - O60663 - - - - - 9q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 261257 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261257 - Distal 17p13.3 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - 20599530[PMID] - - tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon - YWHAE - - 14-3-3 epsilon - FLJ45465 - - - gene with protein product - - - - ClinVar - YWHAE - - - Ensembl - ENSG00000108953 - - - Genatlas - YWHAE - - - HGNC - 12851 - - - OMIM - 605066 - - - Reactome - P62258 - - - SwissProt - P62258 - - - - - 17p13.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 2623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2623 - Geleophysic dysplasia - - Malformation syndrome - - - Disorder - - - - 20301776[PMID]_21683322[PMID] - - fibrillin 1 - FBN1 - - MASS - Marfan syndrome - OCTD - SGS - asprosin - - - gene with protein product - - - - ClinVar - FBN1 - - - Ensembl - ENSG00000166147 - - - Genatlas - FBN1 - - - HGNC - 3603 - - - OMIM - 134797 - - - Reactome - P35555 - - - SwissProt - P35555 - - - - - 15q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301776[PMID] - - ADAMTS like 2 - ADAMTSL2 - - KIAA0605 - - - gene with protein product - - - - ClinVar - ADAMTSL2 - - - Ensembl - ENSG00000197859 - - - Genatlas - ADAMTSL2 - - - HGNC - 14631 - - - OMIM - 612277 - - - Reactome - Q86TH1 - - - SwissProt - Q86TH1 - - - - - 9q34.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27068007[PMID] - - latent transforming growth factor beta binding protein 3 - LTBP3 - - - - gene with protein product - - - - ClinVar - LTBP3 - - - Ensembl - ENSG00000168056 - - - Genatlas - LTBP3 - - - HGNC - 6716 - - - OMIM - 602090 - - - Reactome - Q9NS15 - - - SwissProt - Q9NS15 - - - - - 11q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 261330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261330 - Distal 22q11.2 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - - - BCR activator of RhoGEF and GTPase - BCR - - ALL - CML - D22S662 - PHL - - - gene with protein product - - - - ClinVar - BCR - - - Ensembl - ENSG00000186716 - - - Genatlas - BCR - - - HGNC - 1014 - - - IUPHAR - 2755 - - - OMIM - 151410 - - - Reactome - P11274 - - - SwissProt - P11274 - - - - - 22q11.23 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - mitogen-activated protein kinase 1 - MAPK1 - - Extracellular signal-regulated kinase 2 - ERK - ERK2 - MAPK2 - p41mapk - - - gene with protein product - - - - Ensembl - ENSG00000100030 - - - Genatlas - MAPK1 - - - HGNC - 6871 - - - IUPHAR - 1495 - - - OMIM - 176948 - - - Reactome - P28482 - - - SwissProt - P28482 - - - ClinVar - MAPK1 - - - - - 22q11.22 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - CRK like proto-oncogene, adaptor protein - CRKL - - - - gene with protein product - - - - OMIM - 602007 - - - Reactome - P46109 - - - SwissProt - P46109 - - - Ensembl - ENSG00000099942 - - - Genatlas - CRKL - - - HGNC - 2363 - - - ClinVar - CRKL - - - - - 22q11.21 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 261323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261323 - 21q22.11q22.12 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - 28150392[PMID]_27549381[PMID] - - kinesin family member 15 - KIF15 - - HKLP2 - NY-BR-62 - - - gene with protein product - - - - HGNC - 17273 - - - Ensembl - ENSG00000163808 - - - SwissProt - Q9NS87 - - - OMIM - 617569 - - - Genatlas - KIF15 - - - Reactome - Q9NS87 - - - ClinVar - KIF15 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2639 - Fibular aplasia-complex brachydactyly syndrome - - Malformation syndrome - - - Disorder - - - - 26105076[PMID] - - bone morphogenetic protein receptor type 1B - BMPR1B - - ALK6 - CDw293 - - - gene with protein product - - - - Ensembl - ENSG00000138696 - - - Genatlas - BMPR1B - - - HGNC - 1077 - - - IUPHAR - 1789 - - - OMIM - 603248 - - - Reactome - O00238 - - - SwissProt - O00238 - - - ClinVar - BMPR1B - - - - - 4q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16222676[PMID] - - growth differentiation factor 5 - GDF5 - - BMP14 - CDMP1 - cartilage-derived morphogenetic protein-1 - - - gene with protein product - - - - ClinVar - GDF5 - - - OMIM - 601146 - - - Reactome - P43026 - - - SwissProt - P43026 - - - Ensembl - ENSG00000125965 - - - Genatlas - GDF5 - - - HGNC - 4220 - - - - - 20q11.22 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 261483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261483 - Xq27.3q28 duplication syndrome - - Malformation syndrome - - - Disorder - - - - 19844254[PMID] - - fragile X messenger ribonucleoprotein 1 - FMR1 - - FMRP - FRAXA - MGC87458 - - - gene with protein product - - - - Ensembl - ENSG00000102081 - - - Genatlas - FMR1 - - - HGNC - 3775 - - - OMIM - 309550 - - - SwissProt - Q06787 - - - ClinVar - FMR1 - - - - - Xq27.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 2632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2632 - Langer mesomelic dysplasia - - Malformation syndrome - - - Disorder - - - - 12116254[PMID]_20301394[PMID] - - SHOX homeobox - SHOX - - GCFX - PHOG - SHOXY - SS - SHOX1 - pseudoautosomal homeobox-containing osteogenic gene - - - gene with protein product - - - - ClinVar - SHOX - - - OMIM - 312865 - - - OMIM - 400020 - - - SwissProt - O15266 - - - Ensembl - ENSG00000185960 - - - Genatlas - SHOX - - - HGNC - 10853 - - - - - Xp22.33 and Yp11.32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2645 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2645 - Osteoglosphonic dysplasia - - Malformation syndrome - - - Disorder - - - - 15625620[PMID] - - fibroblast growth factor receptor 1 - FGFR1 - - BFGFR - CD331 - CEK - FLG - H2 - H3 - H4 - H5 - N-SAM - Pfeiffer syndrome - - - gene with protein product - - - - Ensembl - ENSG00000077782 - - - Genatlas - FGFR1 - - - HGNC - 3688 - - - IUPHAR - 1808 - - - OMIM - 136350 - - - Reactome - P11362 - - - SwissProt - P11362 - - - ClinVar - FGFR1 - - - - - 8p11.23 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 261584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261584 - 5q22 microdeletion syndrome - - Disease - - - Disorder - - - - 20301519[PMID] - - APC regulator of WNT signaling pathway - APC - - DP2 - DP2.5 - DP3 - PPP1R46 - protein phosphatase 1, regulatory subunit 46 - - - gene with protein product - - - - Ensembl - ENSG00000134982 - - - Genatlas - APC - - - HGNC - 583 - - - OMIM - 611731 - - - Reactome - P25054 - - - SwissProt - P25054 - - - ClinVar - APC - - - - - 5q22.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 261600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600 - Alagille syndrome due to 20p12 microdeletion - - Etiological subtype - - - Subtype of disorder - - - - 21934706[PMID] - - jagged canonical Notch ligand 1 - JAG1 - - AHD - AWS - CD339 - HJ1 - - - gene with protein product - - - - Ensembl - ENSG00000101384 - - - Genatlas - JAG1 - - - HGNC - 6188 - - - OMIM - 601920 - - - Reactome - P78504 - - - SwissProt - P78504 - - - ClinVar - JAG1 - - - - - 20p12.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 261619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619 - Alagille syndrome due to a JAG1 point mutation - - Etiological subtype - - - Subtype of disorder - - - - 21934706[PMID] - - jagged canonical Notch ligand 1 - JAG1 - - AHD - AWS - CD339 - HJ1 - - - gene with protein product - - - - Ensembl - ENSG00000101384 - - - Genatlas - JAG1 - - - HGNC - 6188 - - - OMIM - 601920 - - - Reactome - P78504 - - - SwissProt - P78504 - - - ClinVar - JAG1 - - - - - 20p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 261537 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261537 - Mowat-Wilson syndrome due to monosomy 2q22 - - Etiological subtype - - - Subtype of disorder - - - - 20301585[PMID] - - zinc finger E-box binding homeobox 2 - ZEB2 - - KIAA0569 - SIP-1 - SIP1 - SMAD interacting protein 1 - - - gene with protein product - - - - Reactome - O60315 - - - ClinVar - ZEB2 - - - Ensembl - ENSG00000169554 - - - Genatlas - ZEB2 - - - HGNC - 14881 - - - OMIM - 605802 - - - SwissProt - O60315 - - - - - 2q22.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 261552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261552 - Mowat-Wilson syndrome due to a ZEB2 point mutation - - Etiological subtype - - - Subtype of disorder - - - - 20301585[PMID] - - zinc finger E-box binding homeobox 2 - ZEB2 - - KIAA0569 - SIP-1 - SIP1 - SMAD interacting protein 1 - - - gene with protein product - - - - Reactome - O60315 - - - ClinVar - ZEB2 - - - Ensembl - ENSG00000169554 - - - Genatlas - ZEB2 - - - HGNC - 14881 - - - OMIM - 605802 - - - SwissProt - O60315 - - - - - 2q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2636 - Microcephalic osteodysplastic primordial dwarfism types I and III - - Malformation syndrome - - - Disorder - - - - 21815888[PMID]_23794361[PMID] - - RNA, U4atac small nuclear - RNU4ATAC - - U4atac snRNA - U4atac - RNU4ATAC1 - - - Non-coding RNA - - - - ClinVar - RNU4ATAC - - - Ensembl - ENSG00000264229 - - - Genatlas - RNU4ATAC - - - HGNC - 34016 - - - OMIM - 601428 - - - SwissProt - - - - - - 2q14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2658 - Lenz-Majewski hyperostotic dwarfism - - Malformation syndrome - - - Disorder - - - - 24241535[PMID] - - phosphatidylserine synthase 1 - PTDSS1 - - KIAA0024 - PSS1 - PSSA - - - gene with protein product - - - - Ensembl - ENSG00000156471 - - - Genatlas - PTDSS1 - - - HGNC - 9587 - - - OMIM - 612792 - - - Reactome - P48651 - - - SwissProt - P48651 - - - ClinVar - PTDSS1 - - - - - 8q22.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 261629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629 - Alagille syndrome due to a NOTCH2 point mutation - - Etiological subtype - - - Subtype of disorder - - - - 21934706[PMID] - - notch receptor 2 - NOTCH2 - - - - gene with protein product - - - - Ensembl - ENSG00000134250 - - - Genatlas - NOTCH2 - - - HGNC - 7882 - - - OMIM - 600275 - - - Reactome - Q04721 - - - SwissProt - Q04721 - - - ClinVar - NOTCH2 - - - IUPHAR - 2859 - - - - - 1p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 261638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261638 - Okihiro syndrome due to 20q13 microdeletion - - Etiological subtype - - - Subtype of disorder - - - - 16086360[PMID]_20301547[PMID] - - spalt like transcription factor 4 - SALL4 - - ZNF797 - dJ1112F19.1 - - - gene with protein product - - - - ClinVar - SALL4 - - - Ensembl - ENSG00000101115 - - - Genatlas - SALL4 - - - HGNC - 15924 - - - OMIM - 607343 - - - Reactome - Q9UJQ4 - - - SwissProt - Q9UJQ4 - - - - - 20q13.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 261647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261647 - Okihiro syndrome due to a point mutation - - Etiological subtype - - - Subtype of disorder - - - - 16086360[PMID]_20301547[PMID] - - spalt like transcription factor 4 - SALL4 - - ZNF797 - dJ1112F19.1 - - - gene with protein product - - - - ClinVar - SALL4 - - - Ensembl - ENSG00000101115 - - - Genatlas - SALL4 - - - HGNC - 15924 - - - OMIM - 607343 - - - Reactome - Q9UJQ4 - - - SwissProt - Q9UJQ4 - - - - - 20q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 261652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261652 - Kleefstra syndrome due to a point mutation - - Etiological subtype - - - Subtype of disorder - - - - 29069077[PMID] - - lysine methyltransferase 2C - KMT2C - - HALR - KIAA1506 - Histone-lysine N-methyltransferase 2C - - - gene with protein product - - - - ClinVar - KMT2C - - - HGNC - 13726 - - - Ensembl - ENSG00000055609 - - - SwissProt - Q8NEZ4 - - - OMIM - 606833 - - - Reactome - Q8NEZ4 - - - Genatlas - KMT2C - - - IUPHAR - 2690 - - - - - 7q36.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20945554[PMID] - - euchromatic histone lysine methyltransferase 1 - EHMT1 - - FLJ40292 - GLP - Eu-HMTase1 - FLJ12879 - KIAA1876 - KMT1D - bA188C12.1 - - - gene with protein product - - - - Genatlas - EHMT1 - - - HGNC - 24650 - - - OMIM - 607001 - - - Reactome - Q9H9B1 - - - SwissProt - Q9H9B1 - - - Ensembl - ENSG00000181090 - - - IUPHAR - 2651 - - - ClinVar - EHMT1 - - - - - 9q34.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 3057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3057 - Monoamine oxidase A deficiency - - Disease - - - Disorder - - - - 8211186[PMID]_24169519[PMID] - - monoamine oxidase A - MAOA - - - - gene with protein product - - - - Ensembl - ENSG00000189221 - - - Genatlas - MAOA - - - HGNC - 6833 - - - OMIM - 309850 - - - Reactome - P21397 - - - SwissProt - P21397 - - - ClinVar - MAOA - - - IUPHAR - 2489 - - - - - Xp11.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047 - Blepharophimosis-intellectual disability syndrome, SBBYS type - - Malformation syndrome - - - Disorder - - - - 22715153[PMID]_23236640[PMID] - - lysine acetyltransferase 6B - KAT6B - - qkf - querkopf - MOZ-related factor - MOZ2 - Morf - ZC2HC6B - - - gene with protein product - - - - ClinVar - KAT6B - - - OMIM - 605880 - - - Reactome - Q8WYB5 - - - SwissProt - Q8WYB5 - - - Ensembl - ENSG00000156650 - - - Genatlas - KAT6B - - - HGNC - 17582 - - - IUPHAR - 2666 - - - - - 10q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3042 - Intellectual disability-cataracts-calcified pinnae-myopathy syndrome - - Malformation syndrome - - - Disorder - - - - 25017102[PMID] - - zinc finger and BTB domain containing 20 - ZBTB20 - - DKFZp566F123 - DPZF - ODA-8S - - - gene with protein product - - - - Ensembl - ENSG00000181722 - - - Genatlas - ZBTB20 - - - HGNC - 13503 - - - OMIM - 606025 - - - SwissProt - Q9HC78 - - - ClinVar - ZBTB20 - - - - - 3q13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 263662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263662 - Familial multiple meningioma - - Disease - - - Disorder - - - - 20930055[PMID] - - SWI/SNF related BAF chromatin remodeling complex subunit B1 - SMARCB1 - - BAF47 - Ini1 - PPP1R144 - RDT - Sfh1p - Snr1 - hSNFS - integrase interactor 1 - malignant rhabdoid tumor suppressor - protein phosphatase 1, regulatory subunit 144 - sucrose nonfermenting, yeast, homolog-like 1 - INI-1 - SNF5 - - - gene with protein product - - - - ClinVar - SMARCB1 - - - Reactome - Q12824 - - - SwissProt - Q12824 - - - Ensembl - ENSG00000099956 - - - Genatlas - SMARCB1 - - - HGNC - 11103 - - - OMIM - 601607 - - - - - 22q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22958902[PMID] - - SUFU negative regulator of hedgehog signaling - SUFU - - PRO1280 - SUFUH - SUFUXL - - - gene with protein product - - - - Reactome - Q9UMX1 - - - SwissProt - Q9UMX1 - - - Ensembl - ENSG00000107882 - - - Genatlas - SUFU - - - HGNC - 16466 - - - OMIM - 607035 - - - ClinVar - SUFU - - - - - 10q24.32 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23377182[PMID] - - SWI/SNF related BAF chromatin remodeling complex subunit E1 - SMARCE1 - - BAF57 - - - gene with protein product - - - - ClinVar - SMARCE1 - - - Ensembl - ENSG00000073584 - - - Genatlas - SMARCE1 - - - HGNC - 11109 - - - OMIM - 603111 - - - Reactome - Q969G3 - - - SwissProt - Q969G3 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - MN1 proto-oncogene, transcriptional regulator - MN1 - - MGCR1 - MGCR1-PEN - probable tumor suppressor protein MN1 - - - gene with protein product - - - - Ensembl - ENSG00000169184 - - - Genatlas - MN1 - - - HGNC - 7180 - - - OMIM - 156100 - - - SwissProt - Q10571 - - - ClinVar - MN1 - - - - - 22q12.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 3969118[PMID] - - platelet derived growth factor subunit B - PDGFB - - SSV - becaplermin - oncogene SIS - - - gene with protein product - - - - ClinVar - PDGFB - - - Ensembl - ENSG00000100311 - - - Genatlas - PDGFB - - - HGNC - 8800 - - - OMIM - 190040 - - - Reactome - P01127 - - - SwissProt - P01127 - - - - - 22q13.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 263548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263548 - Peeling skin syndrome type A - - Clinical subtype - - - Subtype of disorder - - - - 28884927[PMID] - - filaggrin 2 - FLG2 - - IFPS - ifapsoriasin - - - gene with protein product - - - - HGNC - 33276 - - - Ensembl - ENSG00000143520 - - - SwissProt - Q5D862 - - - OMIM - 616284 - - - Genatlas - FLG2 - - - Reactome - Q5D862 - - - ClinVar - FLG2 - - - - - 1q21.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22289416[PMID] - - carbohydrate sulfotransferase 8 - CHST8 - - GALNAC4ST-1 - GALNAC-4-ST1 - - - gene with protein product - - - - OMIM - 610190 - - - Reactome - Q9H2A9 - - - SwissProt - Q9H2A9 - - - ClinVar - CHST8 - - - Ensembl - ENSG00000124302 - - - Genatlas - CHST8 - - - HGNC - 15993 - - - - - 19q13.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 27476651[PMID] - - serpin family B member 8 - SERPINB8 - - CAP2 - cytoplasmic antiproteinase 2 - - - gene with protein product - - - - OMIM - 601697 - - - Genatlas - SERPINB8 - - - SwissProt - P50452 - - - Reactome - P50452 - - - Ensembl - ENSG00000166401 - - - HGNC - 8952 - - - ClinVar - SERPINB8 - - - - - 18q22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 263553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263553 - Peeling skin syndrome type B - - Clinical subtype - - - Subtype of disorder - - - - - - corneodesmosin - CDSN - - D6S586E - - - gene with protein product - - - - Ensembl - ENSG00000204539 - - - Genatlas - CDSN - - - HGNC - 1802 - - - OMIM - 602593 - - - SwissProt - Q15517 - - - ClinVar - CDSN - - - Reactome - Q15517 - - - - - 6p21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3032 - NPHP3-related Meckel-like syndrome - - Malformation syndrome - - - Disorder - - - - 18371931[PMID] - - nephrocystin 3 - NPHP3 - - CFAP31 - FLJ30691 - FLJ36696 - KIAA2000 - MKS7 - Meckel syndrome, type 7 - NPH3 - SLSN3 - cilia and flagella associated protein 31 - - - gene with protein product - - - - ClinVar - NPHP3 - - - Ensembl - ENSG00000113971 - - - Genatlas - NPHP3 - - - HGNC - 7907 - - - OMIM - 608002 - - - Reactome - Q7Z494 - - - SwissProt - Q7Z494 - - - - - 3q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 263534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263534 - Acral peeling skin syndrome - - Disease - - - Disorder - - - - 26684698[PMID] - - cystatin A - CSTA - - stefin A - - - gene with protein product - - - - Reactome - P01040 - - - Ensembl - ENSG00000121552 - - - Genatlas - CSTA - - - HGNC - 2481 - - - OMIM - 184600 - - - SwissProt - P01040 - - - ClinVar - CSTA - - - - - 3q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 9767297[PMID] - - transglutaminase 5 - TGM5 - - TGMX - protein-glutamine gamma-glutamyltransferase 5 - TGX - - - gene with protein product - - - - Reactome - O43548 - - - ClinVar - TGM5 - - - Ensembl - ENSG00000104055 - - - Genatlas - TGM5 - - - HGNC - 11781 - - - OMIM - 603805 - - - SwissProt - O43548 - - - - - 15q15.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 263516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263516 - Progressive myoclonic epilepsy type 3 - - Disease - - - Disorder - - - - 22693283[PMID]_22748208[PMID] - - potassium channel tetramerization domain containing 7 - KCTD7 - - CLN14 - EPM3 - FLJ32069 - - - gene with protein product - - - - ClinVar - KCTD7 - - - Reactome - Q96MP8 - - - Ensembl - ENSG00000243335 - - - Genatlas - KCTD7 - - - HGNC - 21957 - - - OMIM - 611725 - - - SwissProt - Q96MP8 - - - - - 7q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 263524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263524 - Acute necrotizing encephalopathy of childhood - - Disease - - - Disorder - - - - 20934285[PMID] - - carnitine palmitoyltransferase 2 - CPT2 - - CPTASE - - - gene with protein product - - - - Genatlas - CPT2 - - - HGNC - 2330 - - - OMIM - 600650 - - - Reactome - P23786 - - - SwissProt - P23786 - - - Ensembl - ENSG00000157184 - - - IUPHAR - 3252 - - - ClinVar - CPT2 - - - - - 1p32.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 19807769[PMID] - - RAN binding protein 2 - RANBP2 - - nucleoporin 358 - ADANE - NUP358 - - - gene with protein product - - - - ClinVar - RANBP2 - - - Ensembl - ENSG00000153201 - - - Genatlas - RANBP2 - - - HGNC - 9848 - - - OMIM - 601181 - - - Reactome - P49792 - - - SwissProt - P49792 - - - - - 2q13 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - 263501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263501 - COG4-CDG - - Disease - - - Disorder - - - - 20301507[PMID] - - component of oligomeric golgi complex 4 - COG4 - - COD1 - DKFZP586E1519 - - - gene with protein product - - - - ClinVar - COG4 - - - OMIM - 606976 - - - Reactome - Q9H9E3 - - - SwissProt - Q9H9E3 - - - Ensembl - ENSG00000103051 - - - Genatlas - COG4 - - - HGNC - 18620 - - - - - 16q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 263508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508 - COG1-CDG - - Disease - - - Disorder - - - - 20301507[PMID] - - component of oligomeric golgi complex 1 - COG1 - - KIAA1381 - - - gene with protein product - - - - ClinVar - COG1 - - - HGNC - 6545 - - - OMIM - 606973 - - - Reactome - Q8WTW3 - - - SwissProt - Q8WTW3 - - - Ensembl - ENSG00000166685 - - - Genatlas - COG1 - - - - - 17q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 263482 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263482 - Spondyloepimetaphyseal dysplasia, Maroteaux type - - Disease - - - Disorder - - - - 20503319[PMID]_24830047[PMID] - - transient receptor potential cation channel subfamily V member 4 - TRPV4 - - CMT2C - OTRPC4 - TRP12 - VR-OAC - VRL-2 - VROAC - osmosensitive transient receptor potential channel 4 - - - gene with protein product - - - - Ensembl - ENSG00000111199 - - - Genatlas - TRPV4 - - - HGNC - 18083 - - - IUPHAR - 510 - - - OMIM - 605427 - - - Reactome - Q9HBA0 - - - SwissProt - Q9HBA0 - - - ClinVar - TRPV4 - - - - - 12q24.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3021 - RAPADILINO syndrome - - Malformation syndrome - - - Disorder - - - - 12952869[PMID]_18716613[PMID] - - RecQ like helicase 4 - RECQL4 - - RecQ4 - - - gene with protein product - - - - HGNC - 9949 - - - OMIM - 603780 - - - SwissProt - O94761 - - - ClinVar - RECQL4 - - - Ensembl - ENSG00000160957 - - - Genatlas - RECQL4 - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 263494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263494 - DPM3-CDG - - Disease - - - Disorder - - - - 20301507[PMID] - - dolichyl-phosphate mannosyltransferase subunit 3, regulatory - DPM3 - - DPM synthase complex subunit - MGC125904 - MGC125905 - MGC34275 - - - gene with protein product - - - - ClinVar - DPM3 - - - Ensembl - ENSG00000179085 - - - Genatlas - DPM3 - - - HGNC - 3007 - - - OMIM - 605951 - - - Reactome - Q9P2X0 - - - SwissProt - Q9P2X0 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 263487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263487 - COG5-CDG - - Disease - - - Disorder - - - - 20301507[PMID] - - component of oligomeric golgi complex 5 - COG5 - - GTC90 - - - gene with protein product - - - - ClinVar - COG5 - - - Ensembl - ENSG00000164597 - - - Genatlas - COG5 - - - HGNC - 14857 - - - OMIM - 606821 - - - Reactome - Q9UP83 - - - SwissProt - Q9UP83 - - - - - 7q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 263458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263458 - Hyperinsulinism due to INSR deficiency - - Disease - - - Disorder - - - - 15161766[PMID] - - insulin receptor - INSR - - CD220 - - - gene with protein product - - - - ClinVar - INSR - - - OMIM - 147670 - - - Reactome - P06213 - - - SwissProt - P06213 - - - Ensembl - ENSG00000171105 - - - Genatlas - INSR - - - HGNC - 6091 - - - IUPHAR - 1800 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 263455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263455 - Congenital hyperinsulinism due to HNF4A deficiency - - Disease - - - Disorder - - - - 20931292[PMID]_25733449[PMID] - - hepatocyte nuclear factor 4 alpha - HNF4A - - HNF4 - NR2A1 - - - gene with protein product - - - - Genatlas - HNF4A - - - HGNC - 5024 - - - IUPHAR - 608 - - - OMIM - 600281 - - - Reactome - P41235 - - - SwissProt - P41235 - - - ClinVar - HNF4A - - - Ensembl - ENSG00000101076 - - - - - 20q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1832 - Osteosclerotic bone dysplasia - - Malformation syndrome - - - Disorder - - - - 25019372[PMID] - - FAM20C golgi associated secretory pathway kinase - FAM20C - - DKFZp547D065 - DMP4 - IMAGE:4942737 - dentin matrix protein 4 - G-CK - golgi casein kinase - - - gene with protein product - - - - Ensembl - ENSG00000177706 - - - Genatlas - FAM20C - - - HGNC - 22140 - - - OMIM - 611061 - - - SwissProt - Q8IXL6 - - - ClinVar - FAM20C - - - Reactome - Q8IXL6 - - - - - 7p22.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 3019 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3019 - Ramon syndrome - - Malformation syndrome - - - Disorder - - - - 29095483[PMID] - - engulfment and cell motility 2 - ELMO2 - - CED-12 - CED12 - ELMO-2 - FLJ11656 - KIAA1834 - - - gene with protein product - - - - Reactome - Q96JJ3 - - - Ensembl - ENSG00000062598 - - - HGNC - 17233 - - - OMIM - 606421 - - - Genatlas - ELMO2 - - - SwissProt - Q96JJ3 - - - ClinVar - ELMO2 - - - - - 20q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 263463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263463 - CHST3-related skeletal dysplasia - - Disease - - - Disorder - - - - 20830804[PMID]_21882400[PMID] - - carbohydrate sulfotransferase 3 - CHST3 - - C6ST - C6ST1 - chondroitin 6 sulfotransferase 1 - - - gene with protein product - - - - Ensembl - ENSG00000122863 - - - Genatlas - CHST3 - - - HGNC - 1971 - - - OMIM - 603799 - - - Reactome - Q7LGC8 - - - SwissProt - Q7LGC8 - - - ClinVar - CHST3 - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 263410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263410 - Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome - - Disease - - - Disorder - - - - 21176162[PMID] - - solute carrier family 19 member 3 - SLC19A3 - - THTR2 - thiamine transporter 2 - hTHTR2 - thTr-2 - - - gene with protein product - - - - SwissProt - Q9BZV2 - - - Ensembl - ENSG00000135917 - - - Genatlas - SLC19A3 - - - HGNC - 16266 - - - OMIM - 606152 - - - Reactome - Q9BZV2 - - - ClinVar - SLC19A3 - - - IUPHAR - 1016 - - - - - 2q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=769 - Rabson-Mendenhall syndrome - - Malformation syndrome - - - Disorder - - - - 21869538[PMID]_17201797[PMID] - - insulin receptor - INSR - - CD220 - - - gene with protein product - - - - ClinVar - INSR - - - OMIM - 147670 - - - Reactome - P06213 - - - SwissProt - P06213 - - - Ensembl - ENSG00000171105 - - - Genatlas - INSR - - - HGNC - 6091 - - - IUPHAR - 1800 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 3005 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3005 - Pyle disease - - Disease - - - Disorder - - - - 27355534[PMID] - - secreted frizzled related protein 4 - SFRP4 - - FRZB-2 - FRP-4 - frpHE - FRPHE - - - gene with protein product - - - - HGNC - 10778 - - - OMIM - 606570 - - - Genatlas - SFRP4 - - - SwissProt - Q6FHJ7 - - - Ensembl - ENSG00000106483 - - - ClinVar - SFRP4 - - - - - 7p14.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 263347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263347 - MRCS syndrome - - Disease - - - Disorder - - - - 15452077[PMID] - - bestrophin 1 - BEST1 - - BEST - BMD - Best disease - RP50 - - - gene with protein product - - - - ClinVar - BEST1 - - - Ensembl - ENSG00000167995 - - - Genatlas - BEST1 - - - HGNC - 12703 - - - OMIM - 607854 - - - Reactome - O76090 - - - SwissProt - O76090 - - - - - 11q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2990 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2990 - Autosomal recessive multiple pterygium syndrome - - Malformation syndrome - - - Disorder - - - - 22167768[PMID] - - cholinergic receptor nicotinic gamma subunit - CHRNG - - acetylcholine receptor, nicotinic, gamma (muscle) - - - gene with protein product - - - - Ensembl - ENSG00000196811 - - - Genatlas - CHRNG - - - HGNC - 1967 - - - IUPHAR - 475 - - - OMIM - 100730 - - - Reactome - P07510 - - - SwissProt - P07510 - - - ClinVar - CHRNG - - - - - 2q37.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29805041[PMID] - - myosin heavy chain 3 - MYH3 - - HEMHC - MYHC-EMB - MYHSE1 - SMHCE - muscle embryonic myosin heavy chain 3 - myosin, skeletal, heavy chain, embryonic 1 - - - gene with protein product - - - - ClinVar - MYH3 - - - Ensembl - ENSG00000109063 - - - Genatlas - MYH3 - - - HGNC - 7573 - - - OMIM - 160720 - - - Reactome - P11055 - - - SwissProt - P11055 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 263297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263297 - Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency - - Disease - - - Disorder - - - - 20357282[PMID] - - glycogenin 1 - GYG1 - - glycogenin glucosyltransferase - - - gene with protein product - - - - ClinVar - GYG1 - - - Ensembl - ENSG00000163754 - - - Genatlas - GYG1 - - - HGNC - 4699 - - - OMIM - 603942 - - - Reactome - P46976 - - - SwissProt - P46976 - - - - - 3q24 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3138 - Ulnar-mammary syndrome - - Malformation syndrome - - - Disorder - - - - 19938096[PMID]_10330342[PMID]_12668170[PMID] - - T-box transcription factor 3 - TBX3 - - TBX3-ISO - XHL - - - gene with protein product - - - - Ensembl - ENSG00000135111 - - - Genatlas - TBX3 - - - HGNC - 11602 - - - OMIM - 601621 - - - SwissProt - O15119 - - - ClinVar - TBX3 - - - Reactome - O15119 - - - - - 12q24.21 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 3144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3144 - Schneckenbecken dysplasia - - Malformation syndrome - - - Disorder - - - - 19508970[PMID] - - solute carrier family 35 member D1 - SLC35D1 - - KIAA0260 - UGTREL7 - UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter - - - gene with protein product - - - - Ensembl - ENSG00000116704 - - - Genatlas - SLC35D1 - - - HGNC - 20800 - - - OMIM - 610804 - - - Reactome - Q9NTN3 - - - SwissProt - Q9NTN3 - - - ClinVar - SLC35D1 - - - IUPHAR - 1149 - - - - - 1p31.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25997753[PMID] - - inositol polyphosphate phosphatase like 1 - INPPL1 - - 51C protein - SH2 domain-containing inositol 5'-phosphatase 2 - SHIP2 - phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2 - - - gene with protein product - - - - Ensembl - ENSG00000165458 - - - Genatlas - INPPL1 - - - HGNC - 6080 - - - IUPHAR - 1459 - - - ClinVar - INPPL1 - - - OMIM - 600829 - - - Reactome - O15357 - - - SwissProt - O15357 - - - - - 11q13.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=798 - Schinzel-Giedion syndrome - - Malformation syndrome - - - Disorder - - - - 20436468[PMID]_21371013[PMID] - - SET binding protein 1 - SETBP1 - - KIAA0437 - SEB - - - gene with protein product - - - - ClinVar - SETBP1 - - - Ensembl - ENSG00000152217 - - - Genatlas - SETBP1 - - - HGNC - 15573 - - - OMIM - 611060 - - - SwissProt - Q9Y6X0 - - - - - 18q12.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 3115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3115 - Roussy-Lévy syndrome - - Disease - - - Disorder - - - - 9543325[PMID]_18592125[PMID] - - peripheral myelin protein 22 - PMP22 - - GAS3 - HNPP - Sp110 - HMSNIA - - - gene with protein product - - - - Reactome - Q01453 - - - ClinVar - PMP22 - - - Ensembl - ENSG00000109099 - - - Genatlas - PMP22 - - - HGNC - 9118 - - - OMIM - 601097 - - - SwissProt - Q01453 - - - - - 17p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 10553995[PMID] - - myelin protein zero - MPZ - - CMT2I - CMT2J - HMSNIB - P0 - - - gene with protein product - - - - ClinVar - MPZ - - - Ensembl - ENSG00000158887 - - - Genatlas - MPZ - - - HGNC - 7225 - - - OMIM - 159440 - - - SwissProt - P25189 - - - - - 1q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3102 - Richieri Costa-Pereira syndrome - - Malformation syndrome - - - Disorder - - - - 24360804[PMID] - - eukaryotic translation initiation factor 4A3 - EIF4A3 - - Fal1 - EIF4AIII - KIAA0111 - - - gene with protein product - - - - ClinVar - EIF4A3 - - - Ensembl - ENSG00000141543 - - - Genatlas - EIF4A3 - - - HGNC - 18683 - - - OMIM - 608546 - - - Reactome - P38919 - - - SwissProt - P38919 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 3107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3107 - Autosomal dominant Robinow syndrome - - Clinical subtype - - - Subtype of disorder - - - - 26924530[PMID] - - dishevelled segment polarity protein 3 - DVL3 - - KIAA0208 - - - gene with protein product - - - - HGNC - 3087 - - - OMIM - 601368 - - - Genatlas - DVL3 - - - SwissProt - Q92997 - - - Reactome - Q92997 - - - Ensembl - ENSG00000161202 - - - ClinVar - DVL3 - - - - - 3q27.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19918918[PMID] - - Wnt family member 5A - WNT5A - - WNT-5A protein - hWNT5A - - - gene with protein product - - - - Ensembl - ENSG00000114251 - - - Genatlas - WNT5A - - - HGNC - 12784 - - - OMIM - 164975 - - - Reactome - P41221 - - - SwissProt - P41221 - - - ClinVar - WNT5A - - - - - 3p14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25817016[PMID] - - dishevelled segment polarity protein 1 - DVL1 - - - - gene with protein product - - - - Ensembl - ENSG00000107404 - - - Genatlas - DVL1 - - - HGNC - 3084 - - - OMIM - 601365 - - - Reactome - O14640 - - - SwissProt - O14640 - - - ClinVar - DVL1 - - - - - 1p36.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29276006[PMID] - - frizzled class receptor 2 - FZD2 - - - - gene with protein product - - - - IUPHAR - 230 - - - OMIM - 600667 - - - Reactome - Q14332 - - - SwissProt - Q14332 - - - Ensembl - ENSG00000180340 - - - Genatlas - FZD2 - - - HGNC - 4040 - - - ClinVar - FZD2 - - - - - 17q21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3086 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3086 - Autosomal dominant vitreoretinochoroidopathy - - Disease - - - Disorder - - - - 18611979[PMID]_21072067[PMID] - - bestrophin 1 - BEST1 - - BEST - BMD - Best disease - RP50 - - - gene with protein product - - - - ClinVar - BEST1 - - - Ensembl - ENSG00000167995 - - - Genatlas - BEST1 - - - HGNC - 12703 - - - OMIM - 607854 - - - Reactome - O76090 - - - SwissProt - O76090 - - - - - 11q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3088 - Revesz syndrome - - Malformation syndrome - - - Disorder - - - - 18252230[PMID]_21477109[PMID] - - TERF1 interacting nuclear factor 2 - TINF2 - - TIN2 - - - gene with protein product - - - - Ensembl - ENSG00000092330 - - - Genatlas - TINF2 - - - HGNC - 11824 - - - OMIM - 604319 - - - Reactome - Q9BSI4 - - - SwissProt - Q9BSI4 - - - ClinVar - TINF2 - - - - - 14q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3097 - Meacham syndrome - - Malformation syndrome - - - Disorder - - - - 17853480[PMID]_21959952[PMID] - - WT1 transcription factor - WT1 - - AWT1 - NPHS4 - WAGR - WIT-2 - WT-1 - - - gene with protein product - - - - ClinVar - WT1 - - - Ensembl - ENSG00000184937 - - - Genatlas - WT1 - - - HGNC - 12796 - - - OMIM - 607102 - - - SwissProt - P19544 - - - Reactome - P19544 - - - - - 11p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3078 - Severe X-linked intellectual disability, Gustavson type - - Malformation syndrome - - - Disorder - - - - 37277488[PMID] - - RNA binding motif protein X-linked - RBMX - - HNRNPG - RNMX - heterogeneous nuclear ribonucleoprotein G - hnRNP-G - - - gene with protein product - - - - Ensembl - ENSG00000147274 - - - SwissProt - P38159 - - - OMIM - 300199 - - - HGNC - 9910 - - - - - Xq26.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3077 - X-linked intellectual disability-psychosis-macroorchidism syndrome - - Malformation syndrome - - - Disorder - - - - 11885030[PMID] - - methyl-CpG binding protein 2 - MECP2 - - - - gene with protein product - - - - HGNC - 6990 - - - OMIM - 300005 - - - SwissProt - P51608 - - - Ensembl - ENSG00000169057 - - - Genatlas - MECP2 - - - ClinVar - MECP2 - - - Reactome - P51608 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3063 - X-linked intellectual disability, Snyder type - - Disease - - - Disorder - - - - 23805436[PMID] - - spermine synthase - SMS - - MRSR - SPMSY - SpS - - - gene with protein product - - - - Ensembl - ENSG00000102172 - - - Genatlas - SMS - - - HGNC - 11123 - - - OMIM - 300105 - - - Reactome - P52788 - - - SwissProt - P52788 - - - ClinVar - SMS - - - - - Xp22.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2886 - TARP syndrome - - Malformation syndrome - - - Disorder - - - - 21910224[PMID] - - RNA binding motif protein 10 - RBM10 - - GPATCH9 - KIAA0122 - ZRANB5 - G-patch domain containing 9 - DXS8237E - GPATC9 - S1-1 - zinc finger RANBP2-type containing 5 - - - gene with protein product - - - - Ensembl - ENSG00000182872 - - - Genatlas - RBM10 - - - HGNC - 9896 - - - OMIM - 300080 - - - SwissProt - P98175 - - - ClinVar - RBM10 - - - Reactome - P98175 - - - - - Xp11.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2884 - Piebaldism - - Disease - - - Disorder - - - - 12955764[PMID]_24443330[PMID] - - snail family transcriptional repressor 2 - SNAI2 - - SLUGH1 - SNAIL2 - SLUGH - - - gene with protein product - - - - ClinVar - SNAI2 - - - Reactome - O43623 - - - Ensembl - ENSG00000019549 - - - Genatlas - SNAI2 - - - HGNC - 11094 - - - OMIM - 602150 - - - SwissProt - O43623 - - - - - 8q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22670867[PMID]_25199540[PMID] - - KIT proto-oncogene, receptor tyrosine kinase - KIT - - C-Kit - CD117 - SCFR - mast/stem cell growth factor receptor Kit - - - gene with protein product - - - - ClinVar - KIT - - - Ensembl - ENSG00000157404 - - - Genatlas - KIT - - - HGNC - 6342 - - - IUPHAR - 1805 - - - OMIM - 164920 - - - Reactome - P10721 - - - SwissProt - P10721 - - - - - 4q12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2879 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2879 - Phocomelia, Schinzel type - - Malformation syndrome - - - Disorder - - - - 23922166[PMID]_23266637[PMID] - - Wnt family member 7A - WNT7A - - proto-oncogene Wnt7a protein - Wnt-7a - - - gene with protein product - - - - ClinVar - WNT7A - - - Ensembl - ENSG00000154764 - - - Genatlas - WNT7A - - - HGNC - 12786 - - - OMIM - 601570 - - - Reactome - O00755 - - - SwissProt - O00755 - - - - - 3p25.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 268882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268882 - Arnold-Chiari malformation type I - - Morphological anomaly - - - Disorder - - - - 28513615[PMID] - - dickkopf WNT signaling pathway inhibitor 1 - DKK1 - - DKK-1 - SK - - - gene with protein product - - - - ClinVar - DKK1 - - - Ensembl - ENSG00000107984 - - - Genatlas - DKK1 - - - HGNC - 2891 - - - OMIM - 605189 - - - Reactome - O94907 - - - SwissProt - O94907 - - - - - 10q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 268823 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268823 - Occipital encephalocele - - Clinical subtype - - - Subtype of disorder - - - - 22610794[PMID] - - dishevelled binding antagonist of beta catenin 1 - DACT1 - - DAPPER - DAPPER1 - FRODO - HDPR1 - THYEX3 - - - gene with protein product - - - - Ensembl - ENSG00000165617 - - - Genatlas - DACT1 - - - HGNC - 17748 - - - OMIM - 607861 - - - Reactome - Q9NYF0 - - - SwissProt - Q9NYF0 - - - ClinVar - DACT1 - - - - - 14q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2874 - Phakomatosis pigmentokeratotica - - Malformation syndrome - - - Disorder - - - - 23337891[PMID] - - HRas proto-oncogene, GTPase - HRAS - - - - gene with protein product - - - - HGNC - 5173 - - - OMIM - 190020 - - - Reactome - P01112 - - - SwissProt - P01112 - - - Ensembl - ENSG00000174775 - - - Genatlas - HRAS - - - ClinVar - HRAS - - - IUPHAR - 2822 - - - - - 11p15.5 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 2848 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2848 - Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome - - Disease - - - Disorder - - - - 10545950[PMID] - - proteoglycan 4 - PRG4 - - bG174L6.2 (MSF: megakaryocyte stimulating factor ) - FLJ32635 - HAPO - JCAP - Jacobs camptodactyly-arthropathy-pericarditis syndrome - MSF - SZP - articular superficial zone protein - bG174L6.2 - camptodactyly, arthropathy, coxa vara, pericarditis syndrome - lubricin - megakaryocyte stimulating factor - - - gene with protein product - - - - ClinVar - PRG4 - - - Ensembl - ENSG00000116690 - - - Genatlas - PRG4 - - - HGNC - 9364 - - - OMIM - 604283 - - - SwissProt - Q92954 - - - - - 1q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2854 - Fuhrmann syndrome - - Malformation syndrome - - - Disorder - - - - 23922166[PMID]_23266637[PMID] - - Wnt family member 7A - WNT7A - - proto-oncogene Wnt7a protein - Wnt-7a - - - gene with protein product - - - - ClinVar - WNT7A - - - Ensembl - ENSG00000154764 - - - Genatlas - WNT7A - - - HGNC - 12786 - - - OMIM - 601570 - - - Reactome - O00755 - - - SwissProt - O00755 - - - - - 3p25.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708 - Peters anomaly - - Morphological anomaly - - - Disorder - - - - 9620769[PMID]_11170889[PMID]_12614756[PMID]_18498376[PMID] - - forkhead box C1 - FOXC1 - - ARA - FREAC3 - IGDA - IHG1 - - - gene with protein product - - - - OMIM - 601090 - - - SwissProt - Q12948 - - - Ensembl - ENSG00000054598 - - - Genatlas - FOXC1 - - - HGNC - 3800 - - - ClinVar - FOXC1 - - - Reactome - Q12948 - - - - - 6p25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11403040[PMID]_15621878[PMID]_16735991[PMID] - - cytochrome P450 family 1 subfamily B member 1 - CYP1B1 - - CP1B - - - gene with protein product - - - - ClinVar - CYP1B1 - - - IUPHAR - 1320 - - - Ensembl - ENSG00000138061 - - - Genatlas - CYP1B1 - - - HGNC - 2597 - - - OMIM - 601771 - - - Reactome - Q16678 - - - SwissProt - Q16678 - - - - - 2p22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 10051017[PMID] - - paired like homeodomain 2 - PITX2 - - ARP1 - Brx1 - IGDS - Otlx2 - RS - - - gene with protein product - - - - Ensembl - ENSG00000164093 - - - Genatlas - PITX2 - - - HGNC - 9005 - - - OMIM - 601542 - - - SwissProt - Q99697 - - - ClinVar - PITX2 - - - Reactome - Q99697 - - - - - 4q25 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 8162071[PMID]_10441571[PMID]_15090434[PMID] - - paired box 6 - PAX6 - - AN - D11S812E - WAGR - aniridia, keratitis - Aniridia 1 - Aniridia 2 - - - gene with protein product - - - - Ensembl - ENSG00000007372 - - - Genatlas - PAX6 - - - HGNC - 8620 - - - OMIM - 607108 - - - Reactome - P26367 - - - SwissProt - P26367 - - - ClinVar - PAX6 - - - - - 11p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27218149[PMID] - - forkhead box E3 - FOXE3 - - FREAC8 - - - gene with protein product - - - - Ensembl - ENSG00000186790 - - - Genatlas - FOXE3 - - - HGNC - 3808 - - - OMIM - 601094 - - - SwissProt - Q13461 - - - ClinVar - FOXE3 - - - - - 1p33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2850 - Alopecia-intellectual disability syndrome - - Disease - - - Disorder - - - - 26695873[PMID] - - integrin subunit beta 6 - ITGB6 - - - - gene with protein product - - - - IUPHAR - 2460 - - - ClinVar - ITGB6 - - - Ensembl - ENSG00000115221 - - - Genatlas - ITGB6 - - - HGNC - 6161 - - - OMIM - 147558 - - - Reactome - P18564 - - - SwissProt - P18564 - - - - - 2q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30723320[PMID] - - lanosterol synthase - LSS - - OSC - Oxidosqualene-lanosterol cyclase - - - gene with protein product - - - - Ensembl - ENSG00000160285 - - - Genatlas - LSS - - - HGNC - 6708 - - - IUPHAR - 2434 - - - OMIM - 600909 - - - Reactome - P48449 - - - SwissProt - P48449 - - - ClinVar - LSS - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28054173[PMID] - - alpha 2-HS glycoprotein - AHSG - - A2HS - FETUA - fetuin A - HSGA - - - gene with protein product - - - - ClinVar - AHSG - - - HGNC - 349 - - - Ensembl - ENSG00000145192 - - - OMIM - 138680 - - - SwissProt - P02765 - - - Genatlas - AHSG - - - Reactome - R-HSA-8848910 - - - - - 3q27.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 268114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268114 - RAS-associated autoimmune leukoproliferative disease - - Disease - - - Disorder - - - - 21079152[PMID] - - KRAS proto-oncogene, GTPase - KRAS - - KRAS1 - K-Ras4B - - - gene with protein product - - - - IUPHAR - 2824 - - - ClinVar - KRAS - - - Ensembl - ENSG00000133703 - - - Genatlas - KRAS - - - HGNC - 6407 - - - OMIM - 190070 - - - Reactome - P01116 - - - SwissProt - P01116 - - - - - 12p12.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 17517660[PMID]_21079152[PMID] - - NRAS proto-oncogene, GTPase - NRAS - - N-ras - - - gene with protein product - - - - HGNC - 7989 - - - OMIM - 164790 - - - Reactome - P01111 - - - SwissProt - P01111 - - - Ensembl - ENSG00000213281 - - - Genatlas - NRAS - - - ClinVar - NRAS - - - IUPHAR - 2823 - - - - - 1p13.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 268129 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268129 - Spheroid body myopathy - - Disease - - - Disorder - - - - 16380616[PMID] - - myotilin - MYOT - - - - gene with protein product - - - - Reactome - Q9UBF9 - - - Ensembl - ENSG00000120729 - - - Genatlas - MYOT - - - HGNC - 12399 - - - OMIM - 604103 - - - SwissProt - Q9UBF9 - - - ClinVar - MYOT - - - - - 5q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2822 - Autosomal recessive spastic paraplegia type 11 - - Disease - - - Disorder - - - - 19105190[PMID]_17322883[PMID] - - SPG11 vesicle trafficking associated, spatacsin - SPG11 - - FLJ21439 - spatacsin - - - gene with protein product - - - - ClinVar - SPG11 - - - Ensembl - ENSG00000104133 - - - Genatlas - SPG11 - - - HGNC - 11226 - - - OMIM - 610844 - - - SwissProt - Q96JI7 - - - - - 15q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 268261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268261 - DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion - - Etiological subtype - - - Subtype of disorder - - - - 21031080[PMID]_25944381[PMID]_26677511[PMID] - - dual specificity tyrosine phosphorylation regulated kinase 1A - DYRK1A - - - - gene with protein product - - - - ClinVar - DYRK1A - - - IUPHAR - 2009 - - - OMIM - 600855 - - - Reactome - Q13627 - - - SwissProt - Q13627 - - - Ensembl - ENSG00000157540 - - - Genatlas - DYRK1A - - - HGNC - 3091 - - - - - 21q22.13 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 2836 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2836 - PEHO syndrome - - Disease - - - Disorder - - - - 28335020[PMID] - - zinc finger HIT-type containing 3 - ZNHIT3 - - Hit1 - - - gene with protein product - - - - HGNC - 12309 - - - Ensembl - ENSG00000273611 - - - OMIM - 604500 - - - SwissProt - Q15649 - - - Genatlas - ZNHIT3 - - - ClinVar - ZNHIT3 - - - - - 17q12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 268162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268162 - Intermediate maple syrup urine disease - - Clinical subtype - - - Subtype of disorder - - - - 20301495[PMID] - - branched chain keto acid dehydrogenase E1 subunit alpha - BCKDHA - - MSU - maple syrup urine disease - 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial - - - gene with protein product - - - - ClinVar - BCKDHA - - - Ensembl - ENSG00000248098 - - - Genatlas - BCKDHA - - - HGNC - 986 - - - OMIM - 608348 - - - Reactome - P12694 - - - SwissProt - P12694 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301495[PMID] - - branched chain keto acid dehydrogenase E1 subunit beta - BCKDHB - - 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial - OVD1B - maple syrup urine disease - - - gene with protein product - - - - ClinVar - BCKDHB - - - Ensembl - ENSG00000083123 - - - Genatlas - BCKDHB - - - HGNC - 987 - - - OMIM - 248611 - - - Reactome - P21953 - - - SwissProt - P21953 - - - - - 6q14.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301495[PMID] - - dihydrolipoamide branched chain transacylase E2 - DBT - - dihydrolipoyllysine-residue (2-methylpropanoyl)transferase - lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial - branched chain 2-oxo-acid dehydrogenase complex component E2 - BCKDH-E2 - BCKAD-E2 - BCOADC-E2 - - - gene with protein product - - - - SwissProt - P11182 - - - Ensembl - ENSG00000137992 - - - Genatlas - DBT - - - HGNC - 2698 - - - OMIM - 248610 - - - Reactome - P11182 - - - ClinVar - DBT - - - - - 1p21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23086801[PMID] - - protein phosphatase, Mg2+/Mn2+ dependent 1K - PPM1K - - branched-chain a-ketoacid dehydrogenase phosphatase - BDP - DKFZp761G058 - PP2C-type mitochondrial phosphoprotein phosphatase - PP2Ckappa - PP2Cm - hPTMP - branched-chain α-ketoacid dehydrogenase phosphatase - protein phosphatase 2C kappa - branched-chain alpha-ketoacid dehydrogenase phosphatase - - - gene with protein product - - - - Reactome - Q8N3J5 - - - SwissProt - Q8N3J5 - - - Ensembl - ENSG00000163644 - - - Genatlas - PPM1K - - - HGNC - 25415 - - - OMIM - 611065 - - - ClinVar - PPM1K - - - - - 4q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 268145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268145 - Classic maple syrup urine disease - - Clinical subtype - - - Subtype of disorder - - - - 20301495[PMID] - - branched chain keto acid dehydrogenase E1 subunit alpha - BCKDHA - - MSU - maple syrup urine disease - 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial - - - gene with protein product - - - - ClinVar - BCKDHA - - - Ensembl - ENSG00000248098 - - - Genatlas - BCKDHA - - - HGNC - 986 - - - OMIM - 608348 - - - Reactome - P12694 - - - SwissProt - P12694 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301495[PMID] - - branched chain keto acid dehydrogenase E1 subunit beta - BCKDHB - - 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial - OVD1B - maple syrup urine disease - - - gene with protein product - - - - ClinVar - BCKDHB - - - Ensembl - ENSG00000083123 - - - Genatlas - BCKDHB - - - HGNC - 987 - - - OMIM - 248611 - - - Reactome - P21953 - - - SwissProt - P21953 - - - - - 6q14.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301495[PMID] - - dihydrolipoamide branched chain transacylase E2 - DBT - - dihydrolipoyllysine-residue (2-methylpropanoyl)transferase - lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial - branched chain 2-oxo-acid dehydrogenase complex component E2 - BCKDH-E2 - BCKAD-E2 - BCOADC-E2 - - - gene with protein product - - - - SwissProt - P11182 - - - Ensembl - ENSG00000137992 - - - Genatlas - DBT - - - HGNC - 2698 - - - OMIM - 248610 - - - Reactome - P11182 - - - ClinVar - DBT - - - - - 1p21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 268184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268184 - Thiamine-responsive maple syrup urine disease - - Clinical subtype - - - Subtype of disorder - - - - 20301495[PMID] - - dihydrolipoamide branched chain transacylase E2 - DBT - - dihydrolipoyllysine-residue (2-methylpropanoyl)transferase - lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial - branched chain 2-oxo-acid dehydrogenase complex component E2 - BCKDH-E2 - BCKAD-E2 - BCOADC-E2 - - - gene with protein product - - - - SwissProt - P11182 - - - Ensembl - ENSG00000137992 - - - Genatlas - DBT - - - HGNC - 2698 - - - OMIM - 248610 - - - Reactome - P11182 - - - ClinVar - DBT - - - - - 1p21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2833 - Stiff skin syndrome - - Disease - - - Disorder - - - - 20375004[PMID] - - fibrillin 1 - FBN1 - - MASS - Marfan syndrome - OCTD - SGS - asprosin - - - gene with protein product - - - - ClinVar - FBN1 - - - Ensembl - ENSG00000166147 - - - Genatlas - FBN1 - - - HGNC - 3603 - - - OMIM - 134797 - - - Reactome - P35555 - - - SwissProt - P35555 - - - - - 15q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 - Wrinkly skin syndrome - - Clinical subtype - - - Subtype of disorder - - - - 18157129[PMID] - - ATPase H+ transporting V0 subunit a2 - ATP6V0A2 - - ATP6N1D - ATP6a2 - J6B7 - Stv1 - TJ6 - TJ6M - TJ6s - Vph1 - a2 - V-ATPase subunit a2 - V-type proton ATPase 116 kDa subunit a2 - regeneration and tolerance factor - a2V - RTF - - - gene with protein product - - - - ClinVar - ATP6V0A2 - - - Reactome - Q9Y487 - - - SwissProt - Q9Y487 - - - Ensembl - ENSG00000185344 - - - Genatlas - ATP6V0A2 - - - HGNC - 18481 - - - OMIM - 611716 - - - IUPHAR - 824 - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 268173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268173 - Intermittent maple syrup urine disease - - Clinical subtype - - - Subtype of disorder - - - - 20301495[PMID] - - branched chain keto acid dehydrogenase E1 subunit alpha - BCKDHA - - MSU - maple syrup urine disease - 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial - - - gene with protein product - - - - ClinVar - BCKDHA - - - Ensembl - ENSG00000248098 - - - Genatlas - BCKDHA - - - HGNC - 986 - - - OMIM - 608348 - - - Reactome - P12694 - - - SwissProt - P12694 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301495[PMID] - - branched chain keto acid dehydrogenase E1 subunit beta - BCKDHB - - 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial - OVD1B - maple syrup urine disease - - - gene with protein product - - - - ClinVar - BCKDHB - - - Ensembl - ENSG00000083123 - - - Genatlas - BCKDHB - - - HGNC - 987 - - - OMIM - 248611 - - - Reactome - P21953 - - - SwissProt - P21953 - - - - - 6q14.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301495[PMID] - - dihydrolipoamide branched chain transacylase E2 - DBT - - dihydrolipoyllysine-residue (2-methylpropanoyl)transferase - lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial - branched chain 2-oxo-acid dehydrogenase complex component E2 - BCKDH-E2 - BCKAD-E2 - BCOADC-E2 - - - gene with protein product - - - - SwissProt - P11182 - - - Ensembl - ENSG00000137992 - - - Genatlas - DBT - - - HGNC - 2698 - - - OMIM - 248610 - - - Reactome - P11182 - - - ClinVar - DBT - - - - - 1p21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2969 - Proteus-like syndrome - - Clinical subtype - - - Subtype of disorder - - - - 10749983[PMID]_20301661[PMID] - - phosphatase and tensin homolog - PTEN - - MMAC1 - PTEN1 - TEP1 - mutated in multiple advanced cancers 1 - Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN - - - gene with protein product - - - - IUPHAR - 2497 - - - ClinVar - PTEN - - - HGNC - 9588 - - - OMIM - 601728 - - - Reactome - P60484 - - - SwissProt - P60484 - - - Ensembl - ENSG00000171862 - - - Genatlas - PTEN - - - - - 10q23.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=750 - Pseudoachondroplasia - - Disease - - - Disorder - - - - 20301660[PMID] - - cartilage oligomeric matrix protein - COMP - - MED - THBS5 - thrombospondin-5 - multiple epiphyseal dysplasia - TSP5 - TSP-5 - - - gene with protein product - - - - ClinVar - COMP - - - Ensembl - ENSG00000105664 - - - Genatlas - COMP - - - HGNC - 2227 - - - OMIM - 600310 - - - Reactome - P49747 - - - SwissProt - P49747 - - - - - 19p13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1848 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1848 - Renal agenesis, bilateral - - Clinical subtype - - - Subtype of disorder - - - - 34145744[PMID] - - Wnt family member 9B - WNT9B - - WNT14B - - - gene with protein product - - - - HGNC - 12779 - - - Ensembl - ENSG00000158955 - - - OMIM - 602864 - - - SwissProt - O14905 - - - - - 17q21.32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 29100090[PMID]_29100091[PMID] - - GREB1 like retinoic acid receptor coactivator - GREB1L - - FLJ13687 - C18orf6 - - - gene with protein product - - - - HGNC - 31042 - - - SwissProt - Q9C091 - - - ClinVar - GREB1L - - - Ensembl - ENSG00000141449 - - - Genatlas - GREB1L - - - OMIM - 617782 - - - - - 18q11.1-q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 18252215[PMID] - - ret proto-oncogene - RET - - CDHF12 - CDHR16 - PTC - RET receptor tyrosine kinase - RET51 - cadherin-related family member 16 - rearranged during transfection - - - gene with protein product - - - - ClinVar - RET - - - Ensembl - ENSG00000165731 - - - Genatlas - RET - - - HGNC - 9967 - - - IUPHAR - 2185 - - - OMIM - 164761 - - - SwissProt - P07949 - - - Reactome - P07949 - - - - - 10q11.21 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24439109[PMID] - - integrin subunit alpha 8 - ITGA8 - - - - gene with protein product - - - - ClinVar - ITGA8 - - - Genatlas - ITGA8 - - - HGNC - 6144 - - - OMIM - 604063 - - - Reactome - P53708 - - - SwissProt - P53708 - - - IUPHAR - 2447 - - - Ensembl - ENSG00000077943 - - - - - 10p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22698282[PMID] - - fibroblast growth factor 20 - FGF20 - - - - gene with protein product - - - - ClinVar - FGF20 - - - Ensembl - ENSG00000078579 - - - Genatlas - FGF20 - - - HGNC - 3677 - - - OMIM - 605558 - - - Reactome - Q9NP95 - - - SwissProt - Q9NP95 - - - - - 8p22 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 34737117[PMID] - - GDNF family receptor alpha 1 - GFRA1 - - RET1L - GFR-ALPHA-1 - RETL1 - GDNFR - TRNR1 - - - gene with protein product - - - - HGNC - 4243 - - - Ensembl - ENSG00000151892 - - - OMIM - 601496 - - - IUPHAR - 1743 - - - SwissProt - P56159 - - - - - 10q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 740 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=740 - Hutchinson-Gilford progeria syndrome - - Disease - - - Disorder - - - - 16671095[PMID] - - zinc metallopeptidase STE24 - ZMPSTE24 - - CAAX prenyl protease 1 homolog - FACE-1 - HGPS - Hutchinson-Gilford progeria syndrome - PRO1 - STE24 - Ste24p - - - gene with protein product - - - - ClinVar - ZMPSTE24 - - - Ensembl - ENSG00000084073 - - - Genatlas - ZMPSTE24 - - - HGNC - 12877 - - - OMIM - 606480 - - - SwissProt - O75844 - - - Reactome - O75844 - - - - - 1p34.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301300[PMID] - - lamin A/C - LMNA - - HGPS - MADA - mandibuloacral dysplasia type A - progerin - - - gene with protein product - - - - ClinVar - LMNA - - - Ensembl - ENSG00000160789 - - - Genatlas - LMNA - - - HGNC - 6636 - - - OMIM - 150330 - - - Reactome - P02545 - - - SwissProt - P02545 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2957 - Guttmacher syndrome - - Malformation syndrome - - - Disorder - - - - 11968094[PMID] - - homeobox A13 - HOXA13 - - - - gene with protein product - - - - ClinVar - HOXA13 - - - Ensembl - ENSG00000106031 - - - Genatlas - HOXA13 - - - HGNC - 5102 - - - OMIM - 142959 - - - SwissProt - P31271 - - - - - 7p15.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2924 - Isolated polycystic liver disease - - Malformation syndrome - - - Disorder - - - - 24886261[PMID] - - PRKCSH beta subunit of glucosidase II - PRKCSH - - GIIB - VASAP-60 - advanced glycation end-product receptor 2 - glucosidase 2 subunit beta - glucosidase II beta subunit - hepatocystin - GluIIbeta - GIIbeta - PKCSH - 80K-H - AGE-R2 - - - gene with protein product - - - - ClinVar - PRKCSH - - - Reactome - P14314 - - - SwissProt - P14314 - - - Ensembl - ENSG00000130175 - - - Genatlas - PRKCSH - - - HGNC - 9411 - - - OMIM - 177060 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24886261[PMID] - - SEC63 homolog, protein translocation regulator - SEC63 - - SEC63L - DNAJC23 - ERdj2 - PRO2507 - - - gene with protein product - - - - ClinVar - SEC63 - - - Ensembl - ENSG00000025796 - - - Genatlas - SEC63 - - - HGNC - 21082 - - - OMIM - 608648 - - - Reactome - Q9UGP8 - - - SwissProt - Q9UGP8 - - - - - 6q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24706814[PMID] - - LDL receptor related protein 5 - LRP5 - - BMND1 - EVR4 - HBM - LR3 - OPS - OPTA1 - VBCH2 - - - gene with protein product - - - - ClinVar - LRP5 - - - Ensembl - ENSG00000162337 - - - Genatlas - LRP5 - - - HGNC - 6697 - - - OMIM - 603506 - - - Reactome - O75197 - - - SwissProt - O75197 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28375157[PMID] - - ALG8 alpha-1,3-glucosyltransferase - ALG8 - - MGC2840 - dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase - - - gene with protein product - - - - Ensembl - ENSG00000159063 - - - Genatlas - ALG8 - - - HGNC - 23161 - - - OMIM - 608103 - - - Reactome - Q9BVK2 - - - SwissProt - Q9BVK2 - - - ClinVar - ALG8 - - - - - 11q14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2896 - Pitt-Hopkins syndrome - - Malformation syndrome - - - Disorder - - - - 22934316[PMID] - - transcription factor 4 - TCF4 - - E2-2 - ITF2 - SEF2-1B - bHLHb19 - class B basic helix-loop-helix protein 19 - immunoglobulin transcription factor 2 - SL3-3 enhancer factor 2 - - - gene with protein product - - - - ClinVar - TCF4 - - - Ensembl - ENSG00000196628 - - - Genatlas - TCF4 - - - HGNC - 11634 - - - OMIM - 602272 - - - Reactome - P15884 - - - SwissProt - P15884 - - - - - 18q21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 30450687[PMID] - - transcription factor 4 - TCF4 - - E2-2 - ITF2 - SEF2-1B - bHLHb19 - class B basic helix-loop-helix protein 19 - immunoglobulin transcription factor 2 - SL3-3 enhancer factor 2 - - - gene with protein product - - - - ClinVar - TCF4 - - - Ensembl - ENSG00000196628 - - - Genatlas - TCF4 - - - HGNC - 11634 - - - OMIM - 602272 - - - Reactome - P15884 - - - SwissProt - P15884 - - - - - 18q21.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 2899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2899 - Brachyolmia-amelogenesis imperfecta syndrome - - Malformation syndrome - - - Disorder - - - - 25669657[PMID] - - latent transforming growth factor beta binding protein 3 - LTBP3 - - - - gene with protein product - - - - ClinVar - LTBP3 - - - Ensembl - ENSG00000168056 - - - Genatlas - LTBP3 - - - HGNC - 6716 - - - OMIM - 602090 - - - Reactome - Q9NS15 - - - SwissProt - Q9NS15 - - - - - 11q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 264580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264580 - Glycogen storage disease due to liver phosphorylase kinase deficiency - - Disease - - - Disorder - - - - - - phosphorylase kinase regulatory subunit alpha 2 - PHKA2 - - - - gene with protein product - - - - Ensembl - ENSG00000044446 - - - Genatlas - PHKA2 - - - HGNC - 8926 - - - OMIM - 300798 - - - Reactome - P46019 - - - SwissProt - P46019 - - - ClinVar - PHKA2 - - - - - Xp22.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - phosphorylase kinase catalytic subunit gamma 2 - PHKG2 - - - - gene with protein product - - - - Ensembl - ENSG00000156873 - - - Genatlas - PHKG2 - - - HGNC - 8931 - - - IUPHAR - 2147 - - - OMIM - 172471 - - - Reactome - P15735 - - - SwissProt - P15735 - - - ClinVar - PHKG2 - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919 - Orofaciodigital syndrome type 5 - - Malformation syndrome - - - Disorder - - - - 23972372[PMID] - - DEAD-box helicase 59 - DDX59 - - DKFZP564B1023 - ZNHIT5 - zinc finger HIT-type containing 5 - - - gene with protein product - - - - ClinVar - DDX59 - - - Ensembl - ENSG00000118197 - - - Genatlas - DDX59 - - - HGNC - 25360 - - - OMIM - 615464 - - - SwissProt - Q5T1V6 - - - - - 1q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 264675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264675 - Hereditary pulmonary alveolar proteinosis - - Disease - - - Disorder - - - - 21075760[PMID]_21205713[PMID] - - colony stimulating factor 2 receptor subunit beta - CSF2RB - - betaGMR - beta-GM-CSF receptor - CD131 - IL5RB - beta common cytokine receptor - - - gene with protein product - - - - IUPHAR - 2306 - - - ClinVar - CSF2RB - - - Ensembl - ENSG00000100368 - - - Genatlas - CSF2RB - - - HGNC - 2436 - - - OMIM - 138981 - - - Reactome - P32927 - - - SwissProt - P32927 - - - - - 22q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18955570[PMID] - - colony stimulating factor 2 receptor subunit alpha - CSF2RA - - alpha-GM-CSF receptor - CD116 - alphaGMR - - - gene with protein product - - - - IUPHAR - 1707 - - - ClinVar - CSF2RA - - - Ensembl - ENSG00000198223 - - - Genatlas - CSF2RA - - - HGNC - 2435 - - - OMIM - 306250 - - - Reactome - P15509 - - - SwissProt - P15509 - - - - - Xp22.32 and Yp11.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3377 - Trismus-pseudocamptodactyly syndrome - - Malformation syndrome - - - Disorder - - - - 17041932[PMID]_18049072[PMID] - - myosin heavy chain 8 - MYH8 - - MyHC-peri - MyHC-pn - - - gene with protein product - - - - ClinVar - MYH8 - - - Ensembl - ENSG00000133020 - - - Genatlas - MYH8 - - - HGNC - 7578 - - - OMIM - 160741 - - - Reactome - P13535 - - - SwissProt - P13535 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 275777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275777 - Heritable pulmonary arterial hypertension - - Etiological subtype - - - Subtype of disorder - - - - 34493544[PMID] - - ATPase 13A3 - ATP13A3 - - AFURS1 - Polyamine-transporting ATPase 13A3 - ATPase family homolog up regulated in senescence cells - - - gene with protein product - - - - HGNC - 24113 - - - Ensembl - ENSG00000133657 - - - OMIM - 610232 - - - IUPHAR - 3157 - - - SwissProt - Q9H7F0 - - - - - 3q29 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24951767[PMID]_24956016[PMID]_24936649[PMID]_22632830[PMID]_23298310[PMID] - - activin A receptor like type 1 - ACVRL1 - - activin receptor-like kinase 1 - ALK1 - HHT - HHT2 - - - gene with protein product - - - - ClinVar - ACVRL1 - - - Ensembl - ENSG00000139567 - - - Genatlas - ACVRL1 - - - HGNC - 175 - - - IUPHAR - 1784 - - - OMIM - 601284 - - - SwissProt - P37023 - - - Reactome - P37023 - - - - - 12q13.13 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 19555857[PMID]_20301658[PMID]_24951767[PMID] - - bone morphogenetic protein receptor type 2 - BMPR2 - - BMPR-II - BMPR3 - BRK-3 - T-ALK - - - gene with protein product - - - - Ensembl - ENSG00000204217 - - - Genatlas - BMPR2 - - - HGNC - 1078 - - - IUPHAR - 1794 - - - OMIM - 600799 - - - Reactome - Q13873 - - - SwissProt - Q13873 - - - ClinVar - BMPR2 - - - - - 2q33.1-q33.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23502781[PMID]_23592887[PMID] - - T-box transcription factor 4 - TBX4 - - - - gene with protein product - - - - Ensembl - ENSG00000121075 - - - Genatlas - TBX4 - - - HGNC - 11603 - - - OMIM - 601719 - - - SwissProt - P57082 - - - ClinVar - TBX4 - - - - - 17q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24951767[PMID]_15687131[PMID]_15115879[PMID]_23298310[PMID] - - endoglin - ENG - - CD105 - END - HHT1 - - - gene with protein product - - - - Reactome - P17813 - - - IUPHAR - 2895 - - - ClinVar - ENG - - - Ensembl - ENSG00000106991 - - - Genatlas - ENG - - - HGNC - 3349 - - - OMIM - 131195 - - - SwissProt - P17813 - - - - - 9q34.11 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 22474227[PMID] - - caveolin 1 - CAV1 - - - - gene with protein product - - - - Ensembl - ENSG00000105974 - - - Genatlas - CAV1 - - - HGNC - 1527 - - - OMIM - 601047 - - - Reactome - Q03135 - - - SwissProt - Q03135 - - - ClinVar - CAV1 - - - - - 7q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21920918[PMID] - - SMAD family member 9 - SMAD9 - - SMAD8 - SMAD8/9 - - - gene with protein product - - - - ClinVar - SMAD9 - - - Reactome - O15198 - - - SwissProt - O15198 - - - Ensembl - ENSG00000120693 - - - Genatlas - SMAD9 - - - HGNC - 6774 - - - OMIM - 603295 - - - - - 13q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23883380[PMID]_24951767[PMID] - - potassium two pore domain channel subfamily K member 3 - KCNK3 - - K2p3.1 - TASK - TASK-1 - TWIK-related acid-sensitive K+ 1 - TASK1 - - - gene with protein product - - - - Ensembl - ENSG00000171303 - - - Genatlas - KCNK3 - - - HGNC - 6278 - - - IUPHAR - 515 - - - OMIM - 603220 - - - Reactome - O14649 - - - SwissProt - O14649 - - - ClinVar - KCNK3 - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25512148[PMID] - - eukaryotic translation initiation factor 2 alpha kinase 4 - EIF2AK4 - - GCN2 - KIAA1338 - eIF-2-alpha kinase - - - gene with protein product - - - - Ensembl - ENSG00000128829 - - - Genatlas - EIF2AK4 - - - HGNC - 19687 - - - IUPHAR - 2018 - - - OMIM - 609280 - - - SwissProt - Q9P2K8 - - - ClinVar - EIF2AK4 - - - - - 15q15.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 37249087[PMID] - - growth differentiation factor 2 - GDF2 - - BMP-9 - BMP9 - - - gene with protein product - - - - Reactome - Q9UK05 - - - Genatlas - GDF2 - - - HGNC - 4217 - - - OMIM - 605120 - - - SwissProt - Q9UK05 - - - Ensembl - ENSG00000263761 - - - ClinVar - GDF2 - - - - - 10q11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30029678[PMID] - - SRY-box transcription factor 17 - SOX17 - - - - gene with protein product - - - - Genatlas - SOX17 - - - HGNC - 18122 - - - OMIM - 610928 - - - Reactome - Q9H6I2 - - - SwissProt - Q9H6I2 - - - Ensembl - ENSG00000164736 - - - ClinVar - SOX17 - - - - - 8q11.23 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 275786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275786 - Drug- or toxin-induced pulmonary arterial hypertension - - Clinical group - - - Group of disorders - - - - 22523367[PMID] - - bone morphogenetic protein receptor type 2 - BMPR2 - - BMPR-II - BMPR3 - BRK-3 - T-ALK - - - gene with protein product - - - - Ensembl - ENSG00000204217 - - - Genatlas - BMPR2 - - - HGNC - 1078 - - - IUPHAR - 1794 - - - OMIM - 600799 - - - Reactome - Q13873 - - - SwissProt - Q13873 - - - ClinVar - BMPR2 - - - - - 2q33.1-q33.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 275798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275798 - Pulmonary arterial hypertension associated with connective tissue disease - - Clinical group - - - Group of disorders - - - - - - major histocompatibility complex, class I, B - HLA-B - - - - gene with protein product - - - - ClinVar - HLA-B - - - Ensembl - ENSG00000234745 - - - Genatlas - HLA-B - - - HGNC - 4932 - - - OMIM - 142830 - - - SwissProt - P01889 - - - Reactome - P30486 - - - - - 6p21.33 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - 3363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3363 - Trichomegaly-retina pigmentary degeneration-dwarfism syndrome - - Malformation syndrome - - - Disorder - - - - 25480986[PMID] - - patatin like domain 6, lysophospholipase - PNPLA6 - - NTE - SPG39 - SWS - iPLA2delta - neuropathy target esterase - sws - - - gene with protein product - - - - ClinVar - PNPLA6 - - - Reactome - Q8IY17 - - - Genatlas - PNPLA6 - - - HGNC - 16268 - - - OMIM - 603197 - - - SwissProt - Q8IY17 - - - Ensembl - ENSG00000032444 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 3366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3366 - Non-syndromic metopic craniosynostosis - - Morphological anomaly - - - Disorder - - - - 11173846[PMID] - - fibroblast growth factor receptor 1 - FGFR1 - - BFGFR - CD331 - CEK - FLG - H2 - H3 - H4 - H5 - N-SAM - Pfeiffer syndrome - - - gene with protein product - - - - Ensembl - ENSG00000077782 - - - Genatlas - FGFR1 - - - HGNC - 3688 - - - IUPHAR - 1808 - - - OMIM - 136350 - - - Reactome - P11362 - - - SwissProt - P11362 - - - ClinVar - FGFR1 - - - - - 8p11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21931569[PMID] - - FRAS1 related extracellular matrix 1 - FREM1 - - C9orf143 - C9orf145 - DKFZp686M16108 - FLJ25461 - TILRR - - - gene with protein product - - - - Ensembl - ENSG00000164946 - - - Genatlas - FREM1 - - - HGNC - 23399 - - - OMIM - 608944 - - - SwissProt - Q5H8C1 - - - ClinVar - FREM1 - - - - - 9p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 276148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276148 - Benign epithelial tumor of salivary glands - - Disease - - - Disorder - - - - 21394649[PMID]_23821214[PMID] - - PLAG1 zinc finger - PLAG1 - - ZNF912 - - - gene with protein product - - - - OMIM - 603026 - - - Genatlas - PLAG1 - - - SwissProt - Q6DJT9 - - - Ensembl - ENSG00000181690 - - - ClinVar - PLAG1 - - - HGNC - 9045 - - - - - 8q12.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 23821214[PMID] - - high mobility group AT-hook 2 - HMGA2 - - BABL - LIPO - - - gene with protein product - - - - Genatlas - HMGA2 - - - HGNC - 5009 - - - OMIM - 600698 - - - Reactome - P52926 - - - SwissProt - P52926 - - - Ensembl - ENSG00000149948 - - - ClinVar - HMGA2 - - - - - 12q14.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 276145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276145 - Malignant epithelial tumor of salivary glands - - Disease - - - Disorder - - - - 25240283[PMID] - - protein kinase D1 - PRKD1 - - PKC-mu - PKCM - PKD - - - gene with protein product - - - - ClinVar - PRKD1 - - - Ensembl - ENSG00000184304 - - - Genatlas - PRKD1 - - - HGNC - 9407 - - - IUPHAR - 1489 - - - OMIM - 605435 - - - Reactome - Q15139 - - - SwissProt - Q15139 - - - - - 14q12 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 3412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3412 - VACTERL with hydrocephalus - - Malformation syndrome - - - Disorder - - - - 21910217[PMID] - - FA complementation group B - FANCB - - FAAP95 - FAB - FLJ34064 - - - gene with protein product - - - - ClinVar - FANCB - - - Ensembl - ENSG00000181544 - - - Genatlas - FANCB - - - HGNC - 3583 - - - OMIM - 300515 - - - Reactome - Q8NB91 - - - SwissProt - Q8NB91 - - - - - Xp22.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 276152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276152 - Multiple endocrine neoplasia type 4 - - Disease - - - Disorder - - - - 25416039[PMID] - - cyclin dependent kinase inhibitor 1B - CDKN1B - - KIP1 - P27KIP1 - - - gene with protein product - - - - ClinVar - CDKN1B - - - HGNC - 1785 - - - OMIM - 600778 - - - Reactome - P46527 - - - SwissProt - P46527 - - - Ensembl - ENSG00000111276 - - - Genatlas - CDKN1B - - - - - 12p13.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 275872 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275872 - Frontotemporal dementia with motor neuron disease - - Disease - - - Disorder - - - - 21145000[PMID] - - valosin containing protein - VCP - - CDC48 - p97 - IBMPFD - TERA - transitional endoplasmic reticulum ATPase - - - gene with protein product - - - - ClinVar - VCP - - - Ensembl - ENSG00000165280 - - - Genatlas - VCP - - - HGNC - 12666 - - - OMIM - 601023 - - - Reactome - P55072 - - - SwissProt - P55072 - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - TAR DNA binding protein - TARDBP - - ALS10 - TDP-43 - - - gene with protein product - - - - ClinVar - TARDBP - - - Ensembl - ENSG00000120948 - - - Genatlas - TARDBP - - - HGNC - 11571 - - - OMIM - 605078 - - - SwissProt - Q13148 - - - Reactome - Q13148 - - - - - 1p36.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23597030[PMID] - - FUS RNA binding protein - FUS - - FUS1 - HNRNPP2 - TLS - heterogeneous nuclear ribonucleoprotein P2 - hnRNP-P2 - translocated in liposarcoma - - - gene with protein product - - - - ClinVar - FUS - - - Ensembl - ENSG00000089280 - - - Genatlas - FUS - - - HGNC - 4010 - - - OMIM - 137070 - - - Reactome - P35637 - - - SwissProt - P35637 - - - - - 16p11.2 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - 24042580[PMID] - - sequestosome 1 - SQSTM1 - - A170 - p60 - p62 - p62B - autophagy receptor p62 - - - gene with protein product - - - - IUPHAR - 3213 - - - Ensembl - ENSG00000161011 - - - Genatlas - SQSTM1 - - - HGNC - 11280 - - - OMIM - 601530 - - - Reactome - Q13501 - - - SwissProt - Q13501 - - - ClinVar - SQSTM1 - - - - - 5q35.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23597030[PMID] - - C9orf72-SMCR8 complex subunit - C9ORF72 - - MGC23980 - DENNL72 - DENND9 - - - gene with protein product - - - - ClinVar - C9orf72 - - - Ensembl - ENSG00000147894 - - - Genatlas - C9orf72 - - - HGNC - 28337 - - - OMIM - 614260 - - - SwissProt - Q96LT7 - - - - - 9p21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25803835[PMID] - - TANK binding kinase 1 - TBK1 - - NAK - - - gene with protein product - - - - Ensembl - ENSG00000183735 - - - Genatlas - TBK1 - - - HGNC - 11584 - - - IUPHAR - 2237 - - - ClinVar - TBK1 - - - OMIM - 604834 - - - Reactome - Q9UHD2 - - - SwissProt - Q9UHD2 - - - - - 12q14.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24934289[PMID] - - coiled-coil-helix-coiled-coil-helix domain containing 10 - CHCHD10 - - MIX17 homolog A - MIX17A - N27C7-4 - - - gene with protein product - - - - Reactome - Q8WYQ3 - - - ClinVar - CHCHD10 - - - Ensembl - ENSG00000250479 - - - Genatlas - CHCHD10 - - - HGNC - 15559 - - - OMIM - 615903 - - - SwissProt - Q8WYQ3 - - - - - 22q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3384 - Common arterial trunk - - Morphological anomaly - - - Disorder - - - - 14585638[PMID]_29509905[PMID] - - T-box transcription factor 1 - TBX1 - - CATCH22 - - - gene with protein product - - - - Ensembl - ENSG00000184058 - - - Genatlas - TBX1 - - - HGNC - 11592 - - - OMIM - 602054 - - - SwissProt - O43435 - - - ClinVar - TBX1 - - - - - 22q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15649947[PMID]_25195019[PMID] - - NK2 homeobox 6 - NKX2-6 - - CSX2 - NKX4-2 - tinman paralog (Drosophila) - tinman (Drosophila) homolog - - - gene with protein product - - - - ClinVar - NKX2-6 - - - Genatlas - NKX2-6 - - - HGNC - 32940 - - - OMIM - 611770 - - - SwissProt - A6NCS4 - - - Ensembl - ENSG00000180053 - - - - - 8p21.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 24254849[PMID] - - plexin D1 - PLXND1 - - KIAA0620 - - - gene with protein product - - - - IUPHAR - 3299 - - - ClinVar - PLXND1 - - - Ensembl - ENSG00000004399 - - - Genatlas - PLXND1 - - - HGNC - 9107 - - - OMIM - 604282 - - - Reactome - Q9Y4D7 - - - SwissProt - Q9Y4D7 - - - - - 3q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 275864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275864 - Behavioral variant of frontotemporal dementia - - Disease - - - Disorder - - - - 27543298[PMID]_21614538[PMID] - - transmembrane protein 106B - TMEM106B - - FLJ11273 - MGC33727 - - - gene with protein product - - - - HGNC - 22407 - - - Ensembl - ENSG00000106460 - - - OMIM - 613413 - - - Genatlas - TMEM106B - - - SwissProt - Q9NUM4 - - - ClinVar - TMEM106B - - - - - 7p21.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 11094121[PMID] - - presenilin 1 - PSEN1 - - FAD - PS1 - S182 - familial Alzheimer Disease - PS-1 - PSNL1 - - - gene with protein product - - - - ClinVar - PSEN1 - - - Ensembl - ENSG00000080815 - - - Genatlas - PSEN1 - - - HGNC - 9508 - - - IUPHAR - 2402 - - - OMIM - 104311 - - - Reactome - P49768 - - - SwissProt - P49768 - - - - - 14q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22355793[PMID]_23597030[PMID] - - charged multivesicular body protein 2B - CHMP2B - - CHMP2.5 - DKFZP564O123 - VPS2 homolog B (S. cerevisiae) - VPS2B - - - gene with protein product - - - - Ensembl - ENSG00000083937 - - - Genatlas - CHMP2B - - - HGNC - 24537 - - - OMIM - 609512 - - - Reactome - Q9UQN3 - - - SwissProt - Q9UQN3 - - - ClinVar - CHMP2B - - - - - 3p11.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 24139279[PMID]_25042114[PMID] - - triggering receptor expressed on myeloid cells 2 - TREM2 - - TREM-2 - Trem2a - Trem2b - Trem2c - - - gene with protein product - - - - Ensembl - ENSG00000095970 - - - Genatlas - TREM2 - - - HGNC - 17761 - - - OMIM - 605086 - - - Reactome - Q9NZC2 - - - SwissProt - Q9NZC2 - - - ClinVar - TREM2 - - - - - 6p21.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23597030[PMID] - - valosin containing protein - VCP - - CDC48 - p97 - IBMPFD - TERA - transitional endoplasmic reticulum ATPase - - - gene with protein product - - - - ClinVar - VCP - - - Ensembl - ENSG00000165280 - - - Genatlas - VCP - - - HGNC - 12666 - - - OMIM - 601023 - - - Reactome - P55072 - - - SwissProt - P55072 - - - - - 9p13.3 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - 23597030[PMID] - - microtubule associated protein tau - MAPT - - FLJ31424 - FTDP-17 - G protein beta1/gamma2 subunit-interacting factor 1 - MGC138549 - MSTD - MTBT1 - MTBT2 - PPND - PPP1R103 - microtubule-associated protein tau, isoform 4 - protein phosphatase 1, regulatory subunit 103 - tau - tau-40 - TAU - Tau-PHF6 - Tau-derived paired helical filament hexapeptide - - - gene with protein product - - - - Ensembl - ENSG00000186868 - - - Genatlas - MAPT - - - HGNC - 6893 - - - OMIM - 157140 - - - Reactome - P10636 - - - SwissProt - P10636 - - - ClinVar - MAPT - - - - - 17q21.31 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23597030[PMID]_23392204[PMID] - - granulin precursor - GRN - - CLN11 - PCDGF - PGRN - progranulin - - - gene with protein product - - - - Reactome - P28799 - - - ClinVar - GRN - - - Ensembl - ENSG00000030582 - - - Genatlas - GRN - - - HGNC - 4601 - - - OMIM - 138945 - - - SwissProt - P28799 - - - - - 17q21.31 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 24042580[PMID] - - sequestosome 1 - SQSTM1 - - A170 - p60 - p62 - p62B - autophagy receptor p62 - - - gene with protein product - - - - IUPHAR - 3213 - - - Ensembl - ENSG00000161011 - - - Genatlas - SQSTM1 - - - HGNC - 11280 - - - OMIM - 601530 - - - Reactome - Q13501 - - - SwissProt - Q13501 - - - ClinVar - SQSTM1 - - - - - 5q35.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23597030[PMID]_23392204[PMID] - - C9orf72-SMCR8 complex subunit - C9ORF72 - - MGC23980 - DENNL72 - DENND9 - - - gene with protein product - - - - ClinVar - C9orf72 - - - Ensembl - ENSG00000147894 - - - Genatlas - C9orf72 - - - HGNC - 28337 - - - OMIM - 614260 - - - SwissProt - Q96LT7 - - - - - 9p21.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 3329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3329 - Tibial aplasia-ectrodactyly syndrome - - Malformation syndrome - - - Disorder - - - - - - basic helix-loop-helix family member a9 - BHLHA9 - - BHLHF42 - Fingerin - bHLHa9 - - - gene with protein product - - - - ClinVar - BHLHA9 - - - Ensembl - ENSG00000205899 - - - Genatlas - BHLHA9 - - - HGNC - 35126 - - - OMIM - 615416 - - - SwissProt - Q7RTU4 - - - - - 17p13.3 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - 3322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3322 - Hoyeraal-Hreidarsson syndrome - - Disease - - - Disorder - - - - 33734615[PMID] - - dyskerin pseudouridine synthase 1 - DKC1 - - Cbf5 - H/ACA ribonucleoprotein complex subunit 4 - NAP57 - NOLA4 - XAP101 - dyskerin - - - gene with protein product - - - - Ensembl - ENSG00000130826 - - - Genatlas - DKC1 - - - HGNC - 2890 - - - OMIM - 300126 - - - Reactome - O60832 - - - SwissProt - O60832 - - - ClinVar - DKC1 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17785587[PMID]_23335200[PMID] - - telomerase reverse transcriptase - TERT - - EST2 - TCS1 - TP2 - TRT - hEST2 - - - gene with protein product - - - - Ensembl - ENSG00000164362 - - - Genatlas - TERT - - - HGNC - 11730 - - - OMIM - 187270 - - - Reactome - O14746 - - - SwissProt - O14746 - - - ClinVar - TERT - - - - - 5p15.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22078571[PMID]_21199492[PMID]_18669893[PMID]_20301779[PMID] - - TERF1 interacting nuclear factor 2 - TINF2 - - TIN2 - - - gene with protein product - - - - Ensembl - ENSG00000092330 - - - Genatlas - TINF2 - - - HGNC - 11824 - - - OMIM - 604319 - - - Reactome - Q9BSI4 - - - SwissProt - Q9BSI4 - - - ClinVar - TINF2 - - - - - 14q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23329068[PMID]_23453664[PMID] - - regulator of telomere elongation helicase 1 - RTEL1 - - DKFZP434C013 - KIAA1088 - NHL - RTEL - bK3184A7.3 - - - gene with protein product - - - - ClinVar - RTEL1 - - - Ensembl - ENSG00000258366 - - - Genatlas - RTEL1 - - - HGNC - 15888 - - - OMIM - 608833 - - - Reactome - Q9NZ71 - - - SwissProt - Q9NZ71 - - - - - 20q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25233904[PMID] - - ACD shelterin complex subunit and telomerase recruitment factor - ACD - - POT1 and TIN2 organizing protein - Pip1 - Ptop - TIN2 interacting protein 1 - Tint1 - Tpp1 - - - gene with protein product - - - - ClinVar - ACD - - - Ensembl - ENSG00000102977 - - - Genatlas - ACD - - - HGNC - 25070 - - - OMIM - 609377 - - - Reactome - Q96AP0 - - - SwissProt - Q96AP0 - - - - - 16q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25893599[PMID] - - poly(A)-specific ribonuclease - PARN - - DAN - deadenylation nuclease - - - gene with protein product - - - - Ensembl - ENSG00000140694 - - - Genatlas - PARN - - - HGNC - 8609 - - - OMIM - 604212 - - - Reactome - O95453 - - - SwissProt - O95453 - - - ClinVar - PARN - - - - - 16p13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 275555 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275555 - Preeclampsia - - Disease - - - Disorder - - - - 28628106[PMID] - - fms related receptor tyrosine kinase 1 - FLT1 - - vascular endothelial growth factor receptor 1 - vascular permeability factor receptor - VEGFR1 - - - gene with protein product - - - - ClinVar - FLT1 - - - HGNC - 3763 - - - Ensembl - ENSG00000102755 - - - SwissProt - P17948 - - - OMIM - 165070 - - - Genatlas - FLT1 - - - Reactome - P17948 - - - IUPHAR - 1812 - - - - - 13q12.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 21490791[PMID] - - storkhead box 1 - STOX1 - - FLJ25162 - - - gene with protein product - - - - Ensembl - ENSG00000165730 - - - Genatlas - STOX1 - - - HGNC - 23508 - - - OMIM - 609397 - - - SwissProt - Q6ZVD7 - - - ClinVar - STOX1 - - - - - 10q22.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22437503[PMID] - - corin, serine peptidase - CORIN - - ATC2 - CRN - Lrp4 - PRSC - TMPRSS10 - - - gene with protein product - - - - ClinVar - CORIN - - - Ensembl - ENSG00000145244 - - - Genatlas - CORIN - - - HGNC - 19012 - - - OMIM - 605236 - - - Reactome - Q9Y5Q5 - - - SwissProt - Q9Y5Q5 - - - - - 4p12 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 275517 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275517 - Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency - - Disease - - - Disorder - - - - 21447005[PMID]_16446975[PMID]_20301287[PMID] - - caspase 8 - CASP8 - - Casp-8 - FLICE - MACH - MCH5 - - - gene with protein product - - - - Ensembl - ENSG00000064012 - - - Genatlas - CASP8 - - - HGNC - 1509 - - - IUPHAR - 1624 - - - OMIM - 601763 - - - Reactome - Q14790 - - - SwissProt - Q14790 - - - ClinVar - CASP8 - - - - - 2q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3352 - Tricho-dento-osseous syndrome - - Malformation syndrome - - - Disorder - - - - 18492670[PMID]_22969805[PMID] - - distal-less homeobox 3 - DLX3 - - - - gene with protein product - - - - Ensembl - ENSG00000064195 - - - Genatlas - DLX3 - - - HGNC - 2916 - - - OMIM - 600525 - - - SwissProt - O60479 - - - ClinVar - DLX3 - - - - - 17q21.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 3342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3342 - Arterial tortuosity syndrome - - Malformation syndrome - - - Disorder - - - - 16550171[PMID]_17935213[PMID]_20547159[PMID] - - solute carrier family 2 member 10 - SLC2A10 - - GLUT10 - GLUT-10 - facilitative glucose transporter GLUT10 - - - gene with protein product - - - - HGNC - 13444 - - - OMIM - 606145 - - - Reactome - O95528 - - - SwissProt - O95528 - - - Ensembl - ENSG00000197496 - - - Genatlas - SLC2A10 - - - ClinVar - SLC2A10 - - - IUPHAR - 886 - - - - - 20q13.12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 3339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3339 - Oculoectodermal syndrome - - Malformation syndrome - - - Disorder - - - - 25808193[PMID] - - KRAS proto-oncogene, GTPase - KRAS - - KRAS1 - K-Ras4B - - - gene with protein product - - - - IUPHAR - 2824 - - - ClinVar - KRAS - - - Ensembl - ENSG00000133703 - - - Genatlas - KRAS - - - HGNC - 6407 - - - OMIM - 190070 - - - Reactome - P01116 - - - SwissProt - P01116 - - - - - 12p12.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 3338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3338 - Toriello-Carey syndrome - - Malformation syndrome - - - Disorder - - - - 28371085[PMID]_26235985[PMID] - - DEAD-box helicase 3 X-linked - DDX3X - - DBX - DDX14 - HLP2 - Helicase-like protein 2 - CAP-Rf - - - gene with protein product - - - - Ensembl - ENSG00000215301 - - - Genatlas - DDX3X - - - HGNC - 2745 - - - OMIM - 300160 - - - SwissProt - O00571 - - - Reactome - O00571 - - - ClinVar - DDX3X - - - - - Xp11.4 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 3472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3472 - Yunis-Varon syndrome - - Malformation syndrome - - - Disorder - - - - 23623387[PMID] - - FIG4 phosphoinositide 5-phosphatase - FIG4 - - ALS11 - CMT4J - SAC3 - dJ249I4.1 - hSac3 - - - gene with protein product - - - - ClinVar - FIG4 - - - Ensembl - ENSG00000112367 - - - Genatlas - FIG4 - - - HGNC - 16873 - - - OMIM - 609390 - - - Reactome - Q92562 - - - SwissProt - Q92562 - - - - - 6q21 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 28635952[PMID] - - VAC14 component of PIKFYVE complex - VAC14 - - ArPIKfyve - FLJ10305 - - - gene with protein product - - - - HGNC - 25507 - - - Ensembl - ENSG00000103043 - - - SwissProt - Q08AM6 - - - OMIM - 604632 - - - Genatlas - VAC14 - - - Reactome - Q08AM6 - - - ClinVar - VAC14 - - - - - 16q22.1-q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3319 - Congenital amegakaryocytic thrombocytopenia - - Disease - - - Disorder - - - - 29191945[PMID] - - thrombopoietin - THPO - - MPL ligand - MPLLG - TPO - c-mpl ligand - megakaryocyte colony-stimulating factor - megakaryocyte growth and development factor - megakaryocyte stimulating factor - myeloproliferative leukemia virus oncogene ligand - prepro-thrombopoietin - thrombopoietin nirs - - - gene with protein product - - - - ClinVar - THPO - - - Ensembl - ENSG00000090534 - - - Genatlas - THPO - - - HGNC - 11795 - - - OMIM - 600044 - - - Reactome - P40225 - - - SwissProt - P40225 - - - - - 3q27.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19302922[PMID]_24438083[PMID] - - MPL proto-oncogene, thrombopoietin receptor - MPL - - CD110 - TPOR - THPOR - - - gene with protein product - - - - ClinVar - MPL - - - Ensembl - ENSG00000117400 - - - Genatlas - MPL - - - HGNC - 7217 - - - IUPHAR - 1722 - - - OMIM - 159530 - - - Reactome - P40238 - - - SwissProt - P40238 - - - - - 1p34.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 3473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3473 - Zimmermann-Laband syndrome - - Malformation syndrome - - - Disorder - - - - 31155282[PMID] - - potassium calcium-activated channel subfamily N member 3 - KCNN3 - - hSK3 - KCa2.3 - SKCA3 - small conductance calcium-activated potassium channel 3 - - - gene with protein product - - - - ClinVar - KCNN3 - - - IUPHAR - 383 - - - HGNC - 6292 - - - Ensembl - ENSG00000143603 - - - SwissProt - Q9UGI6 - - - OMIM - 602983 - - - Genatlas - KCNN3 - - - Reactome - Q9UGI6 - - - - - 1q21.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 25915598[PMID] - - ATPase H+ transporting V1 subunit B2 - ATP6V1B2 - - HO57 - VATB - Vma2 - V-ATPase subunit B2 - - - gene with protein product - - - - Ensembl - ENSG00000147416 - - - Genatlas - ATP6V1B2 - - - HGNC - 854 - - - OMIM - 606939 - - - Reactome - P21281 - - - SwissProt - P21281 - - - IUPHAR - 812 - - - ClinVar - ATP6V1B2 - - - - - 8p21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25915598[PMID] - - potassium voltage-gated channel subfamily H member 1 - KCNH1 - - Kv10.1 - eag - eag1 - h-eag - hEAG - ether-a-go-go 1 - K(V)10.1 - - - gene with protein product - - - - ClinVar - KCNH1 - - - Ensembl - ENSG00000143473 - - - Genatlas - KCNH1 - - - HGNC - 6250 - - - IUPHAR - 570 - - - OMIM - 603305 - - - Reactome - O95259 - - - SwissProt - O95259 - - - - - 1q32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3459 - Wilson-Turner syndrome - - Malformation syndrome - - - Disorder - - - - 22889856[PMID] - - histone deacetylase 8 - HDAC8 - - RPD3 - KDAC8 - - - gene with protein product - - - - Ensembl - ENSG00000147099 - - - Genatlas - HDAC8 - - - HGNC - 13315 - - - IUPHAR - 2619 - - - OMIM - 300269 - - - Reactome - Q9BY41 - - - SwissProt - Q9BY41 - - - ClinVar - HDAC8 - - - - - Xq13.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25644381[PMID] - - LAS1 like ribosome biogenesis factor - LAS1L - - FLJ12525 - Las1 - - - gene with protein product - - - - Ensembl - ENSG00000001497 - - - Genatlas - LAS1L - - - HGNC - 25726 - - - OMIM - 300964 - - - SwissProt - Q9Y4W2 - - - Reactome - Q9Y4W2 - - - ClinVar - LAS1L - - - - - Xq12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2995 - Baraitser-Winter cerebrofrontofacial syndrome - - Malformation syndrome - - - Disorder - - - - 22366783[PMID] - - actin beta - ACTB - - ß-actin - β-actin - - - gene with protein product - - - - ClinVar - ACTB - - - Ensembl - ENSG00000075624 - - - Genatlas - ACTB - - - HGNC - 132 - - - OMIM - 102630 - - - Reactome - P60709 - - - SwissProt - P60709 - - - - - 7p22.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 22366783[PMID] - - actin gamma 1 - ACTG1 - - - - gene with protein product - - - - ClinVar - ACTG1 - - - Ensembl - ENSG00000184009 - - - Genatlas - ACTG1 - - - HGNC - 144 - - - OMIM - 102560 - - - Reactome - P63261 - - - SwissProt - P63261 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 3243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3243 - Sweet syndrome - - Disease - - - Disorder - - - - 21406173[PMID] - - protein tyrosine phosphatase non-receptor type 6 - PTPN6 - - PTP-1C - SHP1 - SHP-1 - HCP - HCPH - - - gene with protein product - - - - HGNC - 9658 - - - Ensembl - ENSG00000111679 - - - OMIM - 176883 - - - SwissProt - P29350 - - - - - 12p13.31 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 28835462[PMID] - - MEFV innate immunity regulator, pyrin - MEFV - - FMF - TRIM20 - marenostrin - - - gene with protein product - - - - Ensembl - ENSG00000103313 - - - Genatlas - MEFV - - - HGNC - 6998 - - - OMIM - 608107 - - - Reactome - O15553 - - - SwissProt - O15553 - - - ClinVar - MEFV - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1827 - Acromelic frontonasal dysplasia - - Malformation syndrome - - - Disorder - - - - 25105228[PMID] - - zinc finger SWIM-type containing 6 - ZSWIM6 - - KIAA1577 - - - gene with protein product - - - - Ensembl - ENSG00000130449 - - - Genatlas - ZSWIM6 - - - HGNC - 29316 - - - OMIM - 615951 - - - SwissProt - Q9HCJ5 - - - ClinVar - ZSWIM6 - - - - - 5q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 268973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268973 - Isolated focal cortical dysplasia type Ia - - Histopathological subtype - - - Subtype of disorder - - - - 29679388[PMID] - - solute carrier family 35 member A2 - SLC35A2 - - UGAT - UGT - UGT1 - UGT2 - UGTL - UDP-Gal-Tr - UDP-galactose translocator - - - gene with protein product - - - - ClinVar - SLC35A2 - - - IUPHAR - 1139 - - - Ensembl - ENSG00000102100 - - - Genatlas - SLC35A2 - - - HGNC - 11022 - - - OMIM - 314375 - - - Reactome - P78381 - - - SwissProt - P78381 - - - - - Xp11.23 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 269008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269008 - Isolated focal cortical dysplasia type IIb - - Histopathological subtype - - - Subtype of disorder - - - - 28215400[PMID] - - TSC complex subunit 2 - TSC2 - - LAM - PPP1R160 - protein phosphatase 1, regulatory subunit 160 - tuberin - - - gene with protein product - - - - OMIM - 191092 - - - Reactome - P49815 - - - SwissProt - P49815 - - - ClinVar - TSC2 - - - Ensembl - ENSG00000103197 - - - Genatlas - TSC2 - - - HGNC - 12363 - - - - - 16p13.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 25799227[PMID] - - mechanistic target of rapamycin kinase - MTOR - - FK506 binding protein 12-rapamycin associated protein 2 - FKBP-rapamycin associated protein - FKBP12-rapamycin complex-associated protein 1 - FLJ44809 - RAFT1 - RAPT1 - dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1) - mammalian target of rapamycin - rapamycin and FKBP12 target 1 - rapamycin associated protein FRAP2 - rapamycin target protein - - - gene with protein product - - - - Ensembl - ENSG00000198793 - - - Genatlas - MTOR - - - HGNC - 3942 - - - IUPHAR - 2109 - - - OMIM - 601231 - - - Reactome - P42345 - - - SwissProt - P42345 - - - ClinVar - MTOR - - - - - 1p36.22 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 28215400[PMID] - - TSC complex subunit 1 - TSC1 - - KIAA0243 - LAM - hamartin - - - gene with protein product - - - - ClinVar - TSC1 - - - Ensembl - ENSG00000165699 - - - Genatlas - TSC1 - - - HGNC - 12362 - - - OMIM - 605284 - - - Reactome - Q92574 - - - SwissProt - Q92574 - - - - - 9q34.13 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 269001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269001 - Isolated focal cortical dysplasia type IIa - - Histopathological subtype - - - Subtype of disorder - - - - 28215400[PMID] - - TSC complex subunit 2 - TSC2 - - LAM - PPP1R160 - protein phosphatase 1, regulatory subunit 160 - tuberin - - - gene with protein product - - - - OMIM - 191092 - - - Reactome - P49815 - - - SwissProt - P49815 - - - ClinVar - TSC2 - - - Ensembl - ENSG00000103197 - - - Genatlas - TSC2 - - - HGNC - 12363 - - - - - 16p13.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 25799227[PMID] - - mechanistic target of rapamycin kinase - MTOR - - FK506 binding protein 12-rapamycin associated protein 2 - FKBP-rapamycin associated protein - FKBP12-rapamycin complex-associated protein 1 - FLJ44809 - RAFT1 - RAPT1 - dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1) - mammalian target of rapamycin - rapamycin and FKBP12 target 1 - rapamycin associated protein FRAP2 - rapamycin target protein - - - gene with protein product - - - - Ensembl - ENSG00000198793 - - - Genatlas - MTOR - - - HGNC - 3942 - - - IUPHAR - 2109 - - - OMIM - 601231 - - - Reactome - P42345 - - - SwissProt - P42345 - - - ClinVar - MTOR - - - - - 1p36.22 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 2460 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2460 - Van den Ende-Gupta syndrome - - Malformation syndrome - - - Disorder - - - - 20887961[PMID]_22140376[PMID] - - scavenger receptor class F member 2 - SCARF2 - - HUMZD58C02 - SREC-II - SREC2 - - - gene with protein product - - - - Ensembl - ENSG00000244486 - - - Genatlas - SCARF2 - - - HGNC - 19869 - - - OMIM - 613619 - - - SwissProt - Q96GP6 - - - ClinVar - SCARF2 - - - - - 22q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3416 - Hyperostosis corticalis generalisata - - Malformation syndrome - - - Disorder - - - - 12579474[PMID] - - LDL receptor related protein 5 - LRP5 - - BMND1 - EVR4 - HBM - LR3 - OPS - OPTA1 - VBCH2 - - - gene with protein product - - - - ClinVar - LRP5 - - - Ensembl - ENSG00000162337 - - - Genatlas - LRP5 - - - HGNC - 6697 - - - OMIM - 603506 - - - Reactome - O75197 - - - SwissProt - O75197 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11836356[PMID]_20301406[PMID] - - sclerostin - SOST - - DAND6 - VBCH - - - gene with protein product - - - - Ensembl - ENSG00000167941 - - - Genatlas - SOST - - - HGNC - 13771 - - - OMIM - 605740 - - - Reactome - Q9BQB4 - - - SwissProt - Q9BQB4 - - - ClinVar - SOST - - - - - 17q21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453 - Autoimmune polyendocrinopathy type 1 - - Disease - - - Disorder - - - - 22460196[PMID]_23342054[PMID] - - autoimmune regulator - AIRE - - APS1 - PGA1 - autoimmune polyendocrinopathy candidiasis ectodermal dystrophy - - - gene with protein product - - - - Ensembl - ENSG00000160224 - - - Genatlas - AIRE - - - HGNC - 360 - - - OMIM - 607358 - - - SwissProt - O43918 - - - Reactome - O43918 - - - ClinVar - AIRE - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 3449 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3449 - Weill-Marchesani syndrome - - Malformation syndrome - - - Disorder - - - - 19836009[PMID] - - ADAM metallopeptidase with thrombospondin type 1 motif 17 - ADAMTS17 - - FLJ16363 - FLJ32769 - - - gene with protein product - - - - IUPHAR - 1689 - - - Ensembl - ENSG00000140470 - - - Genatlas - ADAMTS17 - - - HGNC - 17109 - - - OMIM - 607511 - - - Reactome - Q8TE56 - - - SwissProt - Q8TE56 - - - ClinVar - ADAMTS17 - - - - - 15q26.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301293[PMID] - - ADAM metallopeptidase with thrombospondin type 1 motif 10 - ADAMTS10 - - ADAM-TS10 - - - gene with protein product - - - - ClinVar - ADAMTS10 - - - IUPHAR - 1683 - - - Ensembl - ENSG00000142303 - - - Genatlas - ADAMTS10 - - - HGNC - 13201 - - - OMIM - 608990 - - - Reactome - Q9H324 - - - SwissProt - Q9H324 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301293[PMID] - - fibrillin 1 - FBN1 - - MASS - Marfan syndrome - OCTD - SGS - asprosin - - - gene with protein product - - - - ClinVar - FBN1 - - - Ensembl - ENSG00000166147 - - - Genatlas - FBN1 - - - HGNC - 3603 - - - OMIM - 134797 - - - Reactome - P35555 - - - SwissProt - P35555 - - - - - 15q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301293[PMID]_22539340[PMID] - - latent transforming growth factor beta binding protein 2 - LTBP2 - - - - gene with protein product - - - - ClinVar - LTBP2 - - - Ensembl - ENSG00000119681 - - - Genatlas - LTBP2 - - - HGNC - 6715 - - - OMIM - 602091 - - - Reactome - Q14767 - - - SwissProt - Q14767 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 269510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269510 - Congenital non-communicating hydrocephalus - - Clinical subtype - - - Subtype of disorder - - - - 21031079[PMID]_23042809[PMID] - - coiled-coil domain containing 88C - CCDC88C - - DAPLE - Dvl-associating protein with a high frequency of leucine residues - HkRP2 - SCA40 - spinocerebellar ataxia 40 - - - gene with protein product - - - - HGNC - 19967 - - - OMIM - 611204 - - - Reactome - Q9P219 - - - SwissProt - Q9P219 - - - Ensembl - ENSG00000015133 - - - Genatlas - CCDC88C - - - ClinVar - CCDC88C - - - - - 14q32.11-q32.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3454 - Wieacker-Wolff syndrome - - Malformation syndrome - - - Disorder - - - - 23623388[PMID] - - zinc finger C4H2-type containing - ZC4H2 - - HCA127 - - - gene with protein product - - - - ClinVar - ZC4H2 - - - Ensembl - ENSG00000126970 - - - Genatlas - ZC4H2 - - - HGNC - 24931 - - - OMIM - 300897 - - - SwissProt - Q9NQZ6 - - - - - Xq11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3455 - Wiedemann-Rautenstrauch syndrome - - Malformation syndrome - - - Disorder - - - - 30323018[PMID] - - RNA polymerase III subunit A - POLR3A - - RPC1 - RPC155 - hRPC155 - C160 - - - gene with protein product - - - - ClinVar - POLR3A - - - Ensembl - ENSG00000148606 - - - Genatlas - POLR3A - - - HGNC - 30074 - - - OMIM - 614258 - - - Reactome - O14802 - - - SwissProt - O14802 - - - - - 10q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 269505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269505 - Congenital communicating hydrocephalus - - Clinical subtype - - - Subtype of disorder - - - - 29983323[PMID] - - tripartite motif containing 71 - TRIM71 - - LIN-41 - LIN41 - - - gene with protein product - - - - OMIM - 618570 - - - HGNC - 32669 - - - SwissProt - Q2Q1W2 - - - Ensembl - ENSG00000206557 - - - - - 3p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23240096[PMID] - - multiple PDZ domain crumbs cell polarity complex component - MPDZ - - MUPP1 - - - gene with protein product - - - - Reactome - O75970 - - - ClinVar - MPDZ - - - Ensembl - ENSG00000107186 - - - Genatlas - MPDZ - - - HGNC - 7208 - - - OMIM - 603785 - - - SwissProt - O75970 - - - - - 9p23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 269215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269215 - Isolated Dandy-Walker malformation without hydrocephalus - - Clinical subtype - - - Subtype of disorder - - - - 15338008[PMID]_15733262[PMID]_21204220[PMID]_21307096[PMID] - - Zic family member 4 - ZIC4 - - - - gene with protein product - - - - ClinVar - ZIC4 - - - SwissProt - Q8N9L1 - - - Ensembl - ENSG00000174963 - - - Genatlas - ZIC4 - - - HGNC - 20393 - - - OMIM - 608948 - - - - - 3q24 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 30773799[PMID] - - nidogen 1 - NID1 - - entactin - - - gene with protein product - - - - HGNC - 7821 - - - Ensembl - ENSG00000116962 - - - SwissProt - P14543 - - - OMIM - 131390 - - - - - 1q42.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15338008[PMID]_15733262[PMID]_21204220[PMID]_21307096[PMID] - - Zic family member 1 - ZIC1 - - ZIC - ZNF201 - - - gene with protein product - - - - Reactome - Q15915 - - - ClinVar - ZIC1 - - - Ensembl - ENSG00000152977 - - - Genatlas - ZIC1 - - - HGNC - 12872 - - - OMIM - 600470 - - - SwissProt - Q15915 - - - - - 3q24 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 269212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269212 - Isolated Dandy-Walker malformation with hydrocephalus - - Clinical subtype - - - Subtype of disorder - - - - 15338008[PMID]_15733262[PMID]_21204220[PMID]_21307096[PMID] - - Zic family member 1 - ZIC1 - - ZIC - ZNF201 - - - gene with protein product - - - - Reactome - Q15915 - - - ClinVar - ZIC1 - - - Ensembl - ENSG00000152977 - - - Genatlas - ZIC1 - - - HGNC - 12872 - - - OMIM - 600470 - - - SwissProt - Q15915 - - - - - 3q24 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 15338008[PMID]_15733262[PMID]_21204220[PMID]_21307096[PMID] - - Zic family member 4 - ZIC4 - - - - gene with protein product - - - - ClinVar - ZIC4 - - - SwissProt - Q8N9L1 - - - Ensembl - ENSG00000174963 - - - Genatlas - ZIC4 - - - HGNC - 20393 - - - OMIM - 608948 - - - - - 3q24 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 1856 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1856 - Spondyloperipheral dysplasia-short ulna syndrome - - Disease - - - Disorder - - - - 15316962[PMID]_23545312[PMID] - - collagen type II alpha 1 chain - COL2A1 - - STL1 - - - gene with protein product - - - - ClinVar - COL2A1 - - - Ensembl - ENSG00000139219 - - - Genatlas - COL2A1 - - - HGNC - 2200 - - - OMIM - 120140 - - - Reactome - P02458 - - - SwissProt - P02458 - - - - - 12q13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280333 - Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 - - Disease - - - Disorder - - - - 14678799[PMID]_21388311[PMID] - - dystroglycan 1 - DAG1 - - 156DAG - A3a - AGRNR - DAG - alpha-dystroglycan - beta-dystroglycan - dystrophin-associated glycoprotein-1 - - - gene with protein product - - - - Ensembl - ENSG00000173402 - - - Genatlas - DAG1 - - - HGNC - 2666 - - - OMIM - 128239 - - - Reactome - Q14118 - - - SwissProt - Q14118 - - - ClinVar - DAG1 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280325 - Distal deletion 12p syndrome - - Malformation syndrome - - - Disorder - - - - 22713806[PMID] - - ELKS/RAB6-interacting/CAST family member 1 - ERC1 - - CAST2 - ELKS - KIAA1081 - MGC12974 - - - gene with protein product - - - - Ensembl - ENSG00000082805 - - - Genatlas - ERC1 - - - HGNC - 17072 - - - OMIM - 607127 - - - SwissProt - Q8IUD2 - - - ClinVar - ERC1 - - - - - 12p13.33 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 280293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280293 - Pelizaeus-Merzbacher-like disease due to AIMP1 mutation - - Clinical subtype - - - Subtype of disorder - - - - 21092922[PMID] - - aminoacyl tRNA synthetase complex interacting multifunctional protein 1 - AIMP1 - - ARS-interacting multifunctional protein 1 - EMAP II - EMAP-2 - EMAPII - p43 - multisynthetase complex auxiliary component p43 - - - gene with protein product - - - - Ensembl - ENSG00000164022 - - - Genatlas - AIMP1 - - - HGNC - 10648 - - - OMIM - 603605 - - - Reactome - Q12904 - - - SwissProt - Q12904 - - - ClinVar - AIMP1 - - - - - 4q24 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280288 - Pelizaeus-Merzbacher-like disease due to HSPD1 mutation - - Clinical subtype - - - Subtype of disorder - - - - 18571143[PMID] - - heat shock protein family D (Hsp60) member 1 - HSPD1 - - GROEL - HSP60 - GroEL - - - gene with protein product - - - - ClinVar - HSPD1 - - - Ensembl - ENSG00000144381 - - - Genatlas - HSPD1 - - - HGNC - 5261 - - - OMIM - 118190 - - - Reactome - P10809 - - - SwissProt - P10809 - - - - - 2q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280365 - Autosomal semi-dominant severe lipodystrophic laminopathy - - Disease - - - Disorder - - - - 21346069[PMID] - - lamin A/C - LMNA - - HGPS - MADA - mandibuloacral dysplasia type A - progerin - - - gene with protein product - - - - ClinVar - LMNA - - - Ensembl - ENSG00000160789 - - - Genatlas - LMNA - - - HGNC - 6636 - - - OMIM - 150330 - - - Reactome - P02545 - - - SwissProt - P02545 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3197 - Hereditary hyperekplexia - - Disease - - - Disorder - - - - 29390050[PMID] - - ATPase family AAA domain containing 1 - ATAD1 - - FLJ14600 - thorase - Outer mitochondrial transmembrane helix translocase - Msp1 - - - gene with protein product - - - - HGNC - 25903 - - - Ensembl - ENSG00000138138 - - - SwissProt - Q8NBU5 - - - OMIM - 614452 - - - Genatlas - ATAD1 - - - ClinVar - ATAD1 - - - - - 10q23.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301437[PMID] - - glycine receptor alpha 1 - GLRA1 - - stiff person syndrome - - - gene with protein product - - - - ClinVar - GLRA1 - - - Ensembl - ENSG00000145888 - - - Genatlas - GLRA1 - - - HGNC - 4326 - - - IUPHAR - 423 - - - OMIM - 138491 - - - Reactome - P23415 - - - SwissProt - P23415 - - - - - 5q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301437[PMID] - - glycine receptor beta - GLRB - - - - gene with protein product - - - - ClinVar - GLRB - - - OMIM - 138492 - - - Reactome - P48167 - - - SwissProt - P48167 - - - Ensembl - ENSG00000109738 - - - Genatlas - GLRB - - - HGNC - 4329 - - - IUPHAR - 427 - - - - - 4q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301437[PMID] - - gephyrin - GPHN - - GEPH - KIAA1385 - GPH - - - gene with protein product - - - - ClinVar - GPHN - - - OMIM - 603930 - - - Reactome - Q9NQX3 - - - SwissProt - Q9NQX3 - - - Ensembl - ENSG00000171723 - - - Genatlas - GPHN - - - HGNC - 15465 - - - - - 14q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301437[PMID] - - solute carrier family 6 member 5 - SLC6A5 - - GLYT2 - glycine transporter 2 - Sodium- and chloride-dependent glycine transporter 2 - GlyT-2 - - - gene with protein product - - - - ClinVar - SLC6A5 - - - IUPHAR - 936 - - - Ensembl - ENSG00000165970 - - - Genatlas - SLC6A5 - - - HGNC - 11051 - - - OMIM - 604159 - - - Reactome - Q9Y345 - - - SwissProt - Q9Y345 - - - - - 11p15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3193 - Supravalvular aortic stenosis - - Morphological anomaly - - - Disorder - - - - 10942104[PMID]_19844261[PMID] - - elastin - ELN - - SVAS - WBS - WS - Williams-Beuren syndrome - supravalvular aortic stenosis - tropoelastin - - - gene with protein product - - - - ClinVar - ELN - - - Ensembl - ENSG00000049540 - - - Genatlas - ELN - - - HGNC - 3327 - - - OMIM - 130160 - - - Reactome - P15502 - - - SwissProt - P15502 - - - - - 7q11.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 280356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280356 - PLIN1-related familial partial lipodystrophy - - Disease - - - Disorder - - - - 21345103[PMID] - - perilipin 1 - PLIN1 - - - - gene with protein product - - - - Ensembl - ENSG00000166819 - - - Genatlas - PLIN1 - - - HGNC - 9076 - - - OMIM - 170290 - - - Reactome - O60240 - - - SwissProt - O60240 - - - ClinVar - PLIN1 - - - - - 15q26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280406 - Familial steroid-resistant nephrotic syndrome with sensorineural deafness - - Disease - - - Disorder - - - - 21540551[PMID] - - coenzyme Q6, monooxygenase - COQ6 - - CGI-10 - - - gene with protein product - - - - ClinVar - COQ6 - - - Ensembl - ENSG00000119723 - - - Genatlas - COQ6 - - - HGNC - 20233 - - - OMIM - 614647 - - - Reactome - Q9Y2Z9 - - - SwissProt - Q9Y2Z9 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280384 - Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome - - Disease - - - Disorder - - - - 21330303[PMID] - - ER lipid raft associated 2 - ERLIN2 - - Erlin-2 - NET32 - - - gene with protein product - - - - Reactome - O94905 - - - ClinVar - ERLIN2 - - - Ensembl - ENSG00000147475 - - - Genatlas - ERLIN2 - - - HGNC - 1356 - - - OMIM - 611605 - - - SwissProt - O94905 - - - - - 8p11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280397 - Familial Alzheimer-like prion disease - - Disease - - - Disorder - - - - 21416485[PMID] - - prion protein (Kanno blood group) - PRNP - - AltPrP - CD230 - Creutzfeldt-Jakob disease - Gerstmann-Strausler-Scheinker syndrome - PRP - fatal familial insomnia - p27-30 - - - gene with protein product - - - - ClinVar - PRNP - - - Ensembl - ENSG00000171867 - - - Genatlas - PRNP - - - HGNC - 9449 - - - OMIM - 176640 - - - Reactome - P04156 - - - SwissProt - P04156 - - - - - 20p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280576 - Nestor-Guillermo progeria syndrome - - Malformation syndrome - - - Disorder - - - - 21549337[PMID] - - barrier to autointegration nuclear assembly factor 1 - BANF1 - - BAF - - - gene with protein product - - - - Ensembl - ENSG00000175334 - - - Genatlas - BANF1 - - - HGNC - 17397 - - - OMIM - 603811 - - - Reactome - O75531 - - - SwissProt - O75531 - - - ClinVar - BANF1 - - - - - 11q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3220 - Deafness-enamel hypoplasia-nail defects syndrome - - Malformation syndrome - - - Disorder - - - - 26387595[PMID] - - peroxisomal biogenesis factor 1 - PEX1 - - - - gene with protein product - - - - Ensembl - ENSG00000127980 - - - Genatlas - PEX1 - - - HGNC - 8850 - - - OMIM - 602136 - - - SwissProt - O43933 - - - ClinVar - PEX1 - - - - - 7q21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 26387595[PMID] - - peroxisomal biogenesis factor 6 - PEX6 - - PAF-2 - PXAAA1 - - - gene with protein product - - - - Ensembl - ENSG00000124587 - - - Genatlas - PEX6 - - - HGNC - 8859 - - - OMIM - 601498 - - - SwissProt - Q13608 - - - ClinVar - PEX6 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 280586 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280586 - Chondrodysplasia with joint dislocations, gPAPP type - - Malformation syndrome - - - Disorder - - - - 21549340[PMID] - - 3'(2'), 5'-bisphosphate nucleotidase 2 - BPNT2 - - FLJ20421 - IMPA3 - gPAPP - golgi-resident nucleotide phosphatase - Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase - - - gene with protein product - - - - Reactome - Q9NX62 - - - ClinVar - IMPAD1 - - - Ensembl - ENSG00000104331 - - - Genatlas - IMPAD1 - - - HGNC - 26019 - - - OMIM - 614010 - - - SwissProt - Q9NX62 - - - - - 8q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280553 - Fatal infantile hypertonic myofibrillar myopathy - - Disease - - - Disorder - - - - 21337604[PMID] - - crystallin alpha B - CRYAB - - HSPB5 - - - gene with protein product - - - - ClinVar - CRYAB - - - Reactome - P02511 - - - SwissProt - P02511 - - - Ensembl - ENSG00000109846 - - - Genatlas - CRYAB - - - HGNC - 2389 - - - OMIM - 123590 - - - - - 11q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280558 - Warsaw breakage syndrome - - Malformation syndrome - - - Disorder - - - - 23033317[PMID]_20137776[PMID] - - DEAD/H-box helicase 11 - DDX11 - - CHL1 - CHL1-like helicase homolog (S. cerevisiae) - CHLR1 - KRG2 - WABS - KRG-2 - Keratinocyte growth factor-regulated gene 2 - ChlR1 - Warsaw Breakage Syndrome - - - gene with protein product - - - - ClinVar - DDX11 - - - Ensembl - ENSG00000013573 - - - Genatlas - DDX11 - - - HGNC - 2736 - - - OMIM - 601150 - - - Reactome - Q96FC9 - - - SwissProt - Q96FC9 - - - - - 12p11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647 - Nijmegen breakage syndrome - - Malformation syndrome - - - Disorder - - - - 20301355[PMID] - - nibrin - NBN - - AT-V1 - AT-V2 - ATV - - - gene with protein product - - - - Ensembl - ENSG00000104320 - - - Genatlas - NBN - - - HGNC - 7652 - - - OMIM - 602667 - - - Reactome - O60934 - - - SwissProt - O60934 - - - ClinVar - NBN - - - - - 8q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 279943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279943 - Hereditary neutrophilia - - Disease - - - Disorder - - - - 19620628[PMID] - - colony stimulating factor 3 receptor - CSF3R - - G-CSF-R - GCSFR - granulocyte colony-stimulating factor receptor - - - gene with protein product - - - - Reactome - Q99062 - - - Ensembl - ENSG00000119535 - - - Genatlas - CSF3R - - - HGNC - 2439 - - - IUPHAR - 1719 - - - OMIM - 138971 - - - SwissProt - Q99062 - - - ClinVar - CSF3R - - - - - 1p34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 279934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279934 - Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency - - Disease - - - Disorder - - - - 20301766[PMID] - - deoxyguanosine kinase - DGUOK - - dGK - - - gene with protein product - - - - ClinVar - DGUOK - - - Ensembl - ENSG00000114956 - - - Genatlas - DGUOK - - - HGNC - 2858 - - - OMIM - 601465 - - - Reactome - Q16854 - - - SwissProt - Q16854 - - - - - 2p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3152 - Sclerosteosis - - Malformation syndrome - - - Disorder - - - - 20301406[PMID] - - sclerostin - SOST - - DAND6 - VBCH - - - gene with protein product - - - - Ensembl - ENSG00000167941 - - - Genatlas - SOST - - - HGNC - 13771 - - - OMIM - 605740 - - - Reactome - Q9BQB4 - - - SwissProt - Q9BQB4 - - - ClinVar - SOST - - - - - 17q21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 21471202[PMID] - - LDL receptor related protein 4 - LRP4 - - CLSS - LRP-4 - MEGF7 - SOST2 - multiple EGF like domains 7 - - - gene with protein product - - - - ClinVar - LRP4 - - - Ensembl - ENSG00000134569 - - - Genatlas - LRP4 - - - HGNC - 6696 - - - OMIM - 604270 - - - Reactome - O75096 - - - SwissProt - O75096 - - - - - 11p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280142 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280142 - Severe combined immunodeficiency due to LCK deficiency - - Disease - - - Disorder - - - - - - LCK proto-oncogene, Src family tyrosine kinase - LCK - - - - gene with protein product - - - - Ensembl - ENSG00000182866 - - - Genatlas - LCK - - - HGNC - 6524 - - - IUPHAR - 2053 - - - OMIM - 153390 - - - Reactome - P06239 - - - SwissProt - P06239 - - - ClinVar - LCK - - - - - 1p35.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280133 - Complement component 3 deficiency - - Disease - - - Disorder - - - - 15781264[PMID] - - complement C3 - C3 - - ARMD9 - C3a - C3a anaphylatoxin - C3b - CPAMD1 - complement component C3a - complement component C3b - prepro-C3 - - - gene with protein product - - - - ClinVar - C3 - - - Ensembl - ENSG00000125730 - - - Genatlas - C3 - - - HGNC - 1318 - - - OMIM - 120700 - - - Reactome - P01024 - - - SwissProt - P01024 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 3163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163 - SHORT syndrome - - Malformation syndrome - - - Disorder - - - - 23810378[PMID]_23810379[PMID]_23810382[PMID] - - phosphoinositide-3-kinase regulatory subunit 1 - PIK3R1 - - GRB1 - p85 - p85-ALPHA - phosphoinositide-3-kinase regulatory subunit alpha - PI3 kinase-associated p85 - growth factor receptor bound 1 - p85alpha - - - gene with protein product - - - - IUPHAR - 2503 - - - Ensembl - ENSG00000145675 - - - Genatlas - PIK3R1 - - - HGNC - 8979 - - - OMIM - 171833 - - - Reactome - P27986 - - - SwissProt - P27986 - - - ClinVar - PIK3R1 - - - - - 5q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1479 - Atrial septal defect-atrioventricular conduction defects syndrome - - Malformation syndrome - - - Disorder - - - - 19049681[PMID]_18375255[PMID] - - NK2 homeobox 5 - NKX2-5 - - tinman paralog (Drosophila) - CSX1 - NKX2.5 - NKX4-1 - tinman (Drosophila) homolog - - - gene with protein product - - - - Reactome - P52952 - - - SwissProt - P52952 - - - Ensembl - ENSG00000183072 - - - Genatlas - NKX2-5 - - - HGNC - 2488 - - - OMIM - 600584 - - - ClinVar - NKX2-5 - - - - - 5q35.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3156 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3156 - Senior-Loken syndrome - - Disease - - - Disorder - - - - 22819833[PMID] - - centrosomal protein 290 - CEP290 - - Bardet-Biedl syndrome 14 - cancer/testis antigen 87 - nephrocystin-6 - rd16 - 3H11Ag - BBS14 - CT87 - FLJ13615 - JBTS5 - Joubert syndrome 5 - KIAA0373 - LCA10 - MKS4 - Meckel syndrome, type 4 - NPHP6 - POC3 - POC3 centriolar protein homolog (Chlamydomonas) - SLSN6 - - - gene with protein product - - - - ClinVar - CEP290 - - - Ensembl - ENSG00000198707 - - - Genatlas - CEP290 - - - HGNC - 29021 - - - OMIM - 610142 - - - Reactome - O15078 - - - SwissProt - O15078 - - - - - 12q21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16522655[PMID]_22819833[PMID] - - inversin - INVS - - nephrocystin 2 - - - gene with protein product - - - - ClinVar - INVS - - - Ensembl - ENSG00000119509 - - - Genatlas - INVS - - - HGNC - 17870 - - - OMIM - 243305 - - - SwissProt - Q9Y283 - - - - - 9q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22819833[PMID] - - IQ motif containing B1 - IQCB1 - - KIAA0036 - NPHP5 - SLSN5 - nephrocystin-5 - - - gene with protein product - - - - ClinVar - IQCB1 - - - Ensembl - ENSG00000173226 - - - Genatlas - IQCB1 - - - HGNC - 28949 - - - OMIM - 609237 - - - Reactome - Q15051 - - - SwissProt - Q15051 - - - - - 3q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22819833[PMID] - - nephrocystin 1 - NPHP1 - - JBTS4 - SLSN1 - - - gene with protein product - - - - ClinVar - NPHP1 - - - Ensembl - ENSG00000144061 - - - Genatlas - NPHP1 - - - HGNC - 7905 - - - OMIM - 607100 - - - Reactome - O15259 - - - SwissProt - O15259 - - - - - 2q13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22819833[PMID] - - nephrocystin 3 - NPHP3 - - CFAP31 - FLJ30691 - FLJ36696 - KIAA2000 - MKS7 - Meckel syndrome, type 7 - NPH3 - SLSN3 - cilia and flagella associated protein 31 - - - gene with protein product - - - - ClinVar - NPHP3 - - - Ensembl - ENSG00000113971 - - - Genatlas - NPHP3 - - - HGNC - 7907 - - - OMIM - 608002 - - - Reactome - Q7Z494 - - - SwissProt - Q7Z494 - - - - - 3q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22819833[PMID] - - nephrocystin 4 - NPHP4 - - KIAA0673 - POC10 - POC10 centriolar protein homolog (Chlamydomonas) - SLSN4 - nephroretinin - - - gene with protein product - - - - ClinVar - NPHP4 - - - Ensembl - ENSG00000131697 - - - Genatlas - NPHP4 - - - HGNC - 19104 - - - OMIM - 607215 - - - Reactome - O75161 - - - SwissProt - O75161 - - - - - 1p36.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22819833[PMID] - - SHH signaling and ciliogenesis regulator SDCCAG8 - SDCCAG8 - - BBS16 - CCCAP - NPHP10 - NY-CO-8 - SLSN7 - nephrocystin 10 - Senior-Loken syndrome 7 - centrosomal colon cancer autoantigen protein - Bardet-Biedl syndrome 16 - - - gene with protein product - - - - HGNC - 10671 - - - OMIM - 613524 - - - Reactome - Q86SQ7 - - - SwissProt - Q86SQ7 - - - Ensembl - ENSG00000054282 - - - Genatlas - SDCCAG8 - - - ClinVar - SDCCAG8 - - - - - 1q43-q44 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23683095[PMID] - - WD repeat domain 19 - WDR19 - - Pwdmp - intraflagellar transport 144 homolog (Chlamydomonas) - CFAP66 - DYF-2 - FLJ23127 - IFT144 - KIAA1638 - NPHP13 - ORF26 - Oseg6 - FAP66 - - - gene with protein product - - - - ClinVar - WDR19 - - - Reactome - Q8NEZ3 - - - SwissProt - Q8NEZ3 - - - Ensembl - ENSG00000157796 - - - Genatlas - WDR19 - - - HGNC - 18340 - - - OMIM - 608151 - - - - - 4p14 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22863007[PMID] - - centrosomal protein 164 - CEP164 - - KIAA1052 - NPHP15 - - - gene with protein product - - - - ClinVar - CEP164 - - - Ensembl - ENSG00000110274 - - - Genatlas - CEP164 - - - HGNC - 29182 - - - OMIM - 614848 - - - Reactome - Q9UPV0 - - - SwissProt - Q9UPV0 - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26487268[PMID] - - TRAF3 interacting protein 1 - TRAF3IP1 - - FAP116 - DKFZP434F124 - IFT54 - MIP-T3 - MIPT3 - microtubule interacting protein that associates with TRAF3 - CFAP116 - - - gene with protein product - - - - Ensembl - ENSG00000204104 - - - Genatlas - TRAF3IP1 - - - HGNC - 17861 - - - OMIM - 607380 - - - Reactome - Q8TDR0 - - - SwissProt - Q8TDR0 - - - ClinVar - TRAF3IP1 - - - - - 2q37.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 280071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280071 - ALG11-CDG - - Disease - - - Disorder - - - - 20080937[PMID] - - ALG11 alpha-1,2-mannosyltransferase - ALG11 - - GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase - KIAA0266 - CDG1P - - - gene with protein product - - - - Ensembl - ENSG00000253710 - - - Genatlas - ALG11 - - - HGNC - 32456 - - - OMIM - 613666 - - - Reactome - Q2TAA5 - - - SwissProt - Q2TAA5 - - - ClinVar - ALG11 - - - - - 13q14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3157 - Septo-optic dysplasia spectrum - - Malformation syndrome - - - Disorder - - - - 22319038[PMID] - - prokineticin receptor 2 - PROKR2 - - GPR73b - GPRg2 - PKR2 - dJ680N4.3 - - - gene with protein product - - - - ClinVar - PROKR2 - - - Ensembl - ENSG00000101292 - - - Genatlas - PROKR2 - - - HGNC - 15836 - - - IUPHAR - 336 - - - OMIM - 607123 - - - Reactome - Q8NFJ6 - - - SwissProt - Q8NFJ6 - - - - - 20p12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17587179[PMID]_19623216[PMID]_21396578[PMID]_24802313[PMID] - - SRY-box transcription factor 2 - SOX2 - - - - gene with protein product - - - - ClinVar - SOX2 - - - Ensembl - ENSG00000181449 - - - Genatlas - SOX2 - - - HGNC - 11195 - - - OMIM - 184429 - - - Reactome - P48431 - - - SwissProt - P48431 - - - - - 3q26.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22319038[PMID] - - fibroblast growth factor receptor 1 - FGFR1 - - BFGFR - CD331 - CEK - FLG - H2 - H3 - H4 - H5 - N-SAM - Pfeiffer syndrome - - - gene with protein product - - - - Ensembl - ENSG00000077782 - - - Genatlas - FGFR1 - - - HGNC - 3688 - - - IUPHAR - 1808 - - - OMIM - 136350 - - - Reactome - P11362 - - - SwissProt - P11362 - - - ClinVar - FGFR1 - - - - - 8p11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17587179[PMID]_19623216[PMID]_21396578[PMID]_24802313[PMID] - - HESX homeobox 1 - HESX1 - - Rathke's pouch homeobox - ANF - RPX - - - gene with protein product - - - - Reactome - Q9UBX0 - - - ClinVar - HESX1 - - - Ensembl - ENSG00000163666 - - - Genatlas - HESX1 - - - HGNC - 4877 - - - OMIM - 601802 - - - SwissProt - Q9UBX0 - - - - - 3p14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21396578[PMID]_24802313[PMID] - - orthodenticle homeobox 2 - OTX2 - - - - gene with protein product - - - - SwissProt - P32243 - - - Ensembl - ENSG00000165588 - - - Genatlas - OTX2 - - - HGNC - 8522 - - - OMIM - 600037 - - - ClinVar - OTX2 - - - - - 14q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17587179[PMID]_21396578[PMID]_24802313[PMID] - - SRY-box transcription factor 3 - SOX3 - - - - gene with protein product - - - - ClinVar - SOX3 - - - Ensembl - ENSG00000134595 - - - Genatlas - SOX3 - - - HGNC - 11199 - - - OMIM - 313430 - - - Reactome - P41225 - - - SwissProt - P41225 - - - - - Xq27.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24022475[PMID] - - aryl hydrocarbon receptor nuclear translocator 2 - ARNT2 - - KIAA0307 - bHLHe1 - - - gene with protein product - - - - Reactome - Q9HBZ2 - - - ClinVar - ARNT2 - - - OMIM - 606036 - - - SwissProt - Q9HBZ2 - - - Ensembl - ENSG00000172379 - - - Genatlas - ARNT2 - - - HGNC - 16876 - - - - - 15q25.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 280210 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280210 - Pelizaeus-Merzbacher disease, connatal form - - Clinical subtype - - - Subtype of disorder - - - - 20301361[PMID] - - proteolipid protein 1 - PLP1 - - GPM6C - Pelizaeus-Merzbacher disease - - - gene with protein product - - - - Ensembl - ENSG00000123560 - - - Genatlas - PLP1 - - - HGNC - 9086 - - - OMIM - 300401 - - - SwissProt - P60201 - - - ClinVar - PLP1 - - - - - Xq22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280219 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280219 - Pelizaeus-Merzbacher disease, classic form - - Clinical subtype - - - Subtype of disorder - - - - 20301361[PMID] - - proteolipid protein 1 - PLP1 - - GPM6C - Pelizaeus-Merzbacher disease - - - gene with protein product - - - - Ensembl - ENSG00000123560 - - - Genatlas - PLP1 - - - HGNC - 9086 - - - OMIM - 300401 - - - SwissProt - P60201 - - - ClinVar - PLP1 - - - - - Xq22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280200 - Microform holoprosencephaly - - Malformation syndrome - - - Disorder - - - - 27363716[PMID] - - fibroblast growth factor receptor 1 - FGFR1 - - BFGFR - CD331 - CEK - FLG - H2 - H3 - H4 - H5 - N-SAM - Pfeiffer syndrome - - - gene with protein product - - - - Ensembl - ENSG00000077782 - - - Genatlas - FGFR1 - - - HGNC - 3688 - - - IUPHAR - 1808 - - - OMIM - 136350 - - - Reactome - P11362 - - - SwissProt - P11362 - - - ClinVar - FGFR1 - - - - - 8p11.23 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 27363716[PMID] - - SUFU negative regulator of hedgehog signaling - SUFU - - PRO1280 - SUFUH - SUFUXL - - - gene with protein product - - - - Reactome - Q9UMX1 - - - SwissProt - Q9UMX1 - - - Ensembl - ENSG00000107882 - - - Genatlas - SUFU - - - HGNC - 16466 - - - OMIM - 607035 - - - ClinVar - SUFU - - - - - 10q24.32 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - patched 1 - PTCH1 - - BCNS - SLC65B1 - - - gene with protein product - - - - ClinVar - PTCH1 - - - Ensembl - ENSG00000185920 - - - Genatlas - PTCH1 - - - HGNC - 9585 - - - OMIM - 601309 - - - Reactome - Q13635 - - - SwissProt - Q13635 - - - - - 9q22.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - SIX homeobox 3 - SIX3 - - - - gene with protein product - - - - Ensembl - ENSG00000138083 - - - Genatlas - SIX3 - - - HGNC - 10889 - - - OMIM - 603714 - - - SwissProt - O95343 - - - ClinVar - SIX3 - - - Reactome - O95343 - - - - - 2p21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - TGFB induced factor homeobox 1 - TGIF1 - - - - gene with protein product - - - - ClinVar - TGIF1 - - - Ensembl - ENSG00000177426 - - - Genatlas - TGIF1 - - - HGNC - 11776 - - - OMIM - 602630 - - - Reactome - Q15583 - - - SwissProt - Q15583 - - - - - 18p11.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - Zic family member 2 - ZIC2 - - HPE5 - Zinc finger protein of the cerebellum 2 - - - gene with protein product - - - - ClinVar - ZIC2 - - - Ensembl - ENSG00000043355 - - - Genatlas - ZIC2 - - - HGNC - 12873 - - - OMIM - 603073 - - - SwissProt - O95409 - - - - - 13q32.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - GLI family zinc finger 2 - GLI2 - - HPE9 - THP1 - THP2 - tax helper protein 1 - tax helper protein 2 - tax-responsive element-2 holding protein - - - gene with protein product - - - - Ensembl - ENSG00000074047 - - - Genatlas - GLI2 - - - HGNC - 4318 - - - OMIM - 165230 - - - Reactome - P10070 - - - SwissProt - P10070 - - - ClinVar - GLI2 - - - - - 2q14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - cripto, EGF-CFC family member - CRIPTO - - CR - Cripto-1 - CR-1 - - - gene with protein product - - - - Reactome - P13385 - - - SwissProt - P13385 - - - Ensembl - ENSG00000241186 - - - Genatlas - TDGF1 - - - HGNC - 11701 - - - OMIM - 187395 - - - ClinVar - TDGF1 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - forkhead box H1 - FOXH1 - - FAST1 - forkhead activin signal transducer-1 - - - gene with protein product - - - - ClinVar - FOXH1 - - - Ensembl - ENSG00000160973 - - - Genatlas - FOXH1 - - - HGNC - 3814 - - - OMIM - 603621 - - - Reactome - O75593 - - - SwissProt - O75593 - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - fibroblast growth factor 8 - FGF8 - - AIGF - androgen-induced growth factor - - - gene with protein product - - - - SwissProt - P55075 - - - Ensembl - ENSG00000107831 - - - Genatlas - FGF8 - - - HGNC - 3686 - - - OMIM - 600483 - - - Reactome - P55075 - - - ClinVar - FGF8 - - - - - 10q24.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - dispatched RND transporter family member 1 - DISP1 - - DISPA - DKFZP434I0428 - MGC13130 - MGC16796 - - - gene with protein product - - - - Ensembl - ENSG00000154309 - - - Genatlas - DISP1 - - - HGNC - 19711 - - - OMIM - 607502 - - - SwissProt - Q96F81 - - - ClinVar - DISP1 - - - - - 1q41 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - cell adhesion associated, oncogene regulated - CDON - - CDO - CDON1 - ORCAM - cell adhesion molecule-related/down-regulated by oncogenes - Ihog - - - gene with protein product - - - - Ensembl - ENSG00000064309 - - - ClinVar - CDON - - - Genatlas - CDON - - - HGNC - 17104 - - - OMIM - 608707 - - - Reactome - Q4KMG0 - - - SwissProt - Q4KMG0 - - - - - 11q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - nodal growth differentiation factor - NODAL - - - - gene with protein product - - - - ClinVar - NODAL - - - Ensembl - ENSG00000156574 - - - Genatlas - NODAL - - - HGNC - 7865 - - - OMIM - 601265 - - - Reactome - Q96S42 - - - SwissProt - Q96S42 - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - delta like canonical Notch ligand 1 - DLL1 - - - - gene with protein product - - - - ClinVar - DLL1 - - - Ensembl - ENSG00000198719 - - - Genatlas - DLL1 - - - HGNC - 2908 - - - OMIM - 606582 - - - Reactome - O00548 - - - SwissProt - O00548 - - - - - 6q27 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - growth arrest specific 1 - GAS1 - - Growth arrest-specific gene-1 - - - gene with protein product - - - - ClinVar - GAS1 - - - Ensembl - ENSG00000180447 - - - Genatlas - GAS1 - - - HGNC - 4165 - - - OMIM - 139185 - - - Reactome - P54826 - - - SwissProt - P54826 - - - - - 9q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11471164[PMID] - - sonic hedgehog signaling molecule - SHH - - HHG1 - MCOPCB5 - SMMCI - TPT - TPTPS - - - gene with protein product - - - - ClinVar - SHH - - - Ensembl - ENSG00000164690 - - - Genatlas - SHH - - - HGNC - 10848 - - - OMIM - 600725 - - - Reactome - Q15465 - - - SwissProt - Q15465 - - - - - 7q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3175 - X-linked spasticity-intellectual disability-epilepsy syndrome - - Disease - - - Disorder - - - - 12177367[PMID] - - aristaless related homeobox - ARX - - CT121 - EIEE1 - ISSX - cancer/testis antigen 121 - - - gene with protein product - - - - ClinVar - ARX - - - SwissProt - Q96QS3 - - - Ensembl - ENSG00000004848 - - - Genatlas - ARX - - - HGNC - 18060 - - - OMIM - 300382 - - - - - Xp21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280195 - Septopreoptic holoprosencephaly - - Clinical subtype - - - Subtype of disorder - - - - 29785796[PMID] - - STIL centriolar assembly protein - STIL - - MCPH7 - - - gene with protein product - - - - ClinVar - STIL - - - Reactome - Q15468 - - - Ensembl - ENSG00000123473 - - - Genatlas - STIL - - - HGNC - 10879 - - - OMIM - 181590 - - - SwissProt - Q15468 - - - - - 1p33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - patched 1 - PTCH1 - - BCNS - SLC65B1 - - - gene with protein product - - - - ClinVar - PTCH1 - - - Ensembl - ENSG00000185920 - - - Genatlas - PTCH1 - - - HGNC - 9585 - - - OMIM - 601309 - - - Reactome - Q13635 - - - SwissProt - Q13635 - - - - - 9q22.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - sonic hedgehog signaling molecule - SHH - - HHG1 - MCOPCB5 - SMMCI - TPT - TPTPS - - - gene with protein product - - - - ClinVar - SHH - - - Ensembl - ENSG00000164690 - - - Genatlas - SHH - - - HGNC - 10848 - - - OMIM - 600725 - - - Reactome - Q15465 - - - SwissProt - Q15465 - - - - - 7q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - SIX homeobox 3 - SIX3 - - - - gene with protein product - - - - Ensembl - ENSG00000138083 - - - Genatlas - SIX3 - - - HGNC - 10889 - - - OMIM - 603714 - - - SwissProt - O95343 - - - ClinVar - SIX3 - - - Reactome - O95343 - - - - - 2p21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - TGFB induced factor homeobox 1 - TGIF1 - - - - gene with protein product - - - - ClinVar - TGIF1 - - - Ensembl - ENSG00000177426 - - - Genatlas - TGIF1 - - - HGNC - 11776 - - - OMIM - 602630 - - - Reactome - Q15583 - - - SwissProt - Q15583 - - - - - 18p11.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - Zic family member 2 - ZIC2 - - HPE5 - Zinc finger protein of the cerebellum 2 - - - gene with protein product - - - - ClinVar - ZIC2 - - - Ensembl - ENSG00000043355 - - - Genatlas - ZIC2 - - - HGNC - 12873 - - - OMIM - 603073 - - - SwissProt - O95409 - - - - - 13q32.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - GLI family zinc finger 2 - GLI2 - - HPE9 - THP1 - THP2 - tax helper protein 1 - tax helper protein 2 - tax-responsive element-2 holding protein - - - gene with protein product - - - - Ensembl - ENSG00000074047 - - - Genatlas - GLI2 - - - HGNC - 4318 - - - OMIM - 165230 - - - Reactome - P10070 - - - SwissProt - P10070 - - - ClinVar - GLI2 - - - - - 2q14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - cripto, EGF-CFC family member - CRIPTO - - CR - Cripto-1 - CR-1 - - - gene with protein product - - - - Reactome - P13385 - - - SwissProt - P13385 - - - Ensembl - ENSG00000241186 - - - Genatlas - TDGF1 - - - HGNC - 11701 - - - OMIM - 187395 - - - ClinVar - TDGF1 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - forkhead box H1 - FOXH1 - - FAST1 - forkhead activin signal transducer-1 - - - gene with protein product - - - - ClinVar - FOXH1 - - - Ensembl - ENSG00000160973 - - - Genatlas - FOXH1 - - - HGNC - 3814 - - - OMIM - 603621 - - - Reactome - O75593 - - - SwissProt - O75593 - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - fibroblast growth factor 8 - FGF8 - - AIGF - androgen-induced growth factor - - - gene with protein product - - - - SwissProt - P55075 - - - Ensembl - ENSG00000107831 - - - Genatlas - FGF8 - - - HGNC - 3686 - - - OMIM - 600483 - - - Reactome - P55075 - - - ClinVar - FGF8 - - - - - 10q24.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - dispatched RND transporter family member 1 - DISP1 - - DISPA - DKFZP434I0428 - MGC13130 - MGC16796 - - - gene with protein product - - - - Ensembl - ENSG00000154309 - - - Genatlas - DISP1 - - - HGNC - 19711 - - - OMIM - 607502 - - - SwissProt - Q96F81 - - - ClinVar - DISP1 - - - - - 1q41 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - cell adhesion associated, oncogene regulated - CDON - - CDO - CDON1 - ORCAM - cell adhesion molecule-related/down-regulated by oncogenes - Ihog - - - gene with protein product - - - - Ensembl - ENSG00000064309 - - - ClinVar - CDON - - - Genatlas - CDON - - - HGNC - 17104 - - - OMIM - 608707 - - - Reactome - Q4KMG0 - - - SwissProt - Q4KMG0 - - - - - 11q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - nodal growth differentiation factor - NODAL - - - - gene with protein product - - - - ClinVar - NODAL - - - Ensembl - ENSG00000156574 - - - Genatlas - NODAL - - - HGNC - 7865 - - - OMIM - 601265 - - - Reactome - Q96S42 - - - SwissProt - Q96S42 - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - delta like canonical Notch ligand 1 - DLL1 - - - - gene with protein product - - - - ClinVar - DLL1 - - - Ensembl - ENSG00000198719 - - - Genatlas - DLL1 - - - HGNC - 2908 - - - OMIM - 606582 - - - Reactome - O00548 - - - SwissProt - O00548 - - - - - 6q27 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - growth arrest specific 1 - GAS1 - - Growth arrest-specific gene-1 - - - gene with protein product - - - - ClinVar - GAS1 - - - Ensembl - ENSG00000180447 - - - Genatlas - GAS1 - - - HGNC - 4165 - - - OMIM - 139185 - - - Reactome - P54826 - - - SwissProt - P54826 - - - - - 9q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280183 - Methylmalonic aciduria due to transcobalamin receptor defect - - Biological anomaly - - - Disorder - - - - 20524213[PMID] - - CD320 molecule - CD320 - - TCN2R - soluble CD320 - 8D6 - 8D6 antigen - 8D6A - transcobalamin 2 receptor - Transcobalamin receptor - sCD320 - TCII-R - TCblR - - - gene with protein product - - - - Ensembl - ENSG00000167775 - - - Genatlas - CD320 - - - HGNC - 16692 - - - OMIM - 606475 - - - Reactome - Q9NPF0 - - - SwissProt - Q9NPF0 - - - ClinVar - CD320 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280282 - Pelizaeus-Merzbacher-like disease due to GJC2 mutation - - Clinical subtype - - - Subtype of disorder - - - - 22669416[PMID]_24374284[PMID] - - gap junction protein gamma 2 - GJC2 - - CX46.6 - CX47 - SPG44 - connexin 47 - - - gene with protein product - - - - ClinVar - GJC2 - - - Ensembl - ENSG00000198835 - - - Genatlas - GJC2 - - - HGNC - 17494 - - - OMIM - 608803 - - - Reactome - Q5T442 - - - SwissProt - Q5T442 - - - IUPHAR - 731 - - - - - 1q42.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280270 - Pelizaeus-Merzbacher-like disease - - Disease - - - Disorder - - - - 35217805[PMID] - - mal, T cell differentiation protein (MAL blood group) - MAL - - MVP17 - VIP17 - myelin and lymphocyte protein - - - gene with protein product - - - - Ensembl - ENSG00000172005 - - - OMIM - 188860 - - - SwissProt - P21145 - - - HGNC - 6817 - - - - - 2q11.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280234 - Null syndrome - - Clinical subtype - - - Subtype of disorder - - - - 20301361[PMID] - - proteolipid protein 1 - PLP1 - - GPM6C - Pelizaeus-Merzbacher disease - - - gene with protein product - - - - Ensembl - ENSG00000123560 - - - Genatlas - PLP1 - - - HGNC - 9086 - - - OMIM - 300401 - - - SwissProt - P60201 - - - ClinVar - PLP1 - - - - - Xq22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1855 - Spondyloenchondrodysplasia - - Malformation syndrome - - - Disorder - - - - 21217755[PMID]_21217752[PMID] - - acid phosphatase 5, tartrate resistant - ACP5 - - HPAP - TRAP - human purple acid phosphatase - tartrate-resistant acid phosphatase - TRAcP - - - gene with protein product - - - - Ensembl - ENSG00000102575 - - - Genatlas - ACP5 - - - HGNC - 124 - - - OMIM - 171640 - - - Reactome - P13686 - - - SwissProt - P13686 - - - ClinVar - ACP5 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280224 - Pelizaeus-Merzbacher disease, transitional form - - Clinical subtype - - - Subtype of disorder - - - - 20301361[PMID] - - proteolipid protein 1 - PLP1 - - GPM6C - Pelizaeus-Merzbacher disease - - - gene with protein product - - - - Ensembl - ENSG00000123560 - - - Genatlas - PLP1 - - - HGNC - 9086 - - - OMIM - 300401 - - - SwissProt - P60201 - - - ClinVar - PLP1 - - - - - Xq22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1797 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1797 - Autosomal dominant spondylocostal dysostosis - - Malformation syndrome - - - Disorder - - - - 23335591[PMID] - - T-box transcription factor 6 - TBX6 - - - - gene with protein product - - - - ClinVar - TBX6 - - - Ensembl - ENSG00000149922 - - - Genatlas - TBX6 - - - HGNC - 11605 - - - OMIM - 602427 - - - SwissProt - O95947 - - - Reactome - O95947 - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280229 - Pelizaeus-Merzbacher disease in female carriers - - Clinical subtype - - - Subtype of disorder - - - - 20301361[PMID] - - proteolipid protein 1 - PLP1 - - GPM6C - Pelizaeus-Merzbacher disease - - - gene with protein product - - - - Ensembl - ENSG00000123560 - - - Genatlas - PLP1 - - - HGNC - 9086 - - - OMIM - 300401 - - - SwissProt - P60201 - - - ClinVar - PLP1 - - - - - Xq22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 276580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276580 - Autosomal dominant hyperinsulinism due to Kir6.2 deficiency - - Disease - - - Disorder - - - - 18596924[PMID]_25733449[PMID] - - potassium inwardly rectifying channel subfamily J member 11 - KCNJ11 - - ATP-sensitive inward rectifier potassium channel 11 - BIR - Kir6.2 - beta-cell inward rectifier - - - gene with protein product - - - - Ensembl - ENSG00000187486 - - - Genatlas - KCNJ11 - - - HGNC - 6257 - - - IUPHAR - 442 - - - OMIM - 600937 - - - Reactome - Q14654 - - - SwissProt - Q14654 - - - ClinVar - KCNJ11 - - - - - 11p15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3258 - Cenani-Lenz syndrome - - Malformation syndrome - - - Disorder - - - - 25676610[PMID] - - APC regulator of WNT signaling pathway - APC - - DP2 - DP2.5 - DP3 - PPP1R46 - protein phosphatase 1, regulatory subunit 46 - - - gene with protein product - - - - Ensembl - ENSG00000134982 - - - Genatlas - APC - - - HGNC - 583 - - - OMIM - 611731 - - - Reactome - P25054 - - - SwissProt - P25054 - - - ClinVar - APC - - - - - 5q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20381006[PMID]_23636941[PMID] - - LDL receptor related protein 4 - LRP4 - - CLSS - LRP-4 - MEGF7 - SOST2 - multiple EGF like domains 7 - - - gene with protein product - - - - ClinVar - LRP4 - - - Ensembl - ENSG00000134569 - - - Genatlas - LRP4 - - - HGNC - 6696 - - - OMIM - 604270 - - - Reactome - O75096 - - - SwissProt - O75096 - - - - - 11p11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 276575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276575 - Autosomal dominant hyperinsulinism due to SUR1 deficiency - - Disease - - - Disorder - - - - 11018078[PMID]_25733449[PMID] - - ATP binding cassette subfamily C member 8 - ABCC8 - - ABC36 - HHF1 - HI - MRP8 - PHHI - SUR1 - TNDM2 - sulfonylurea receptor (hyperinsulinemia) - - - gene with protein product - - - - ClinVar - ABCC8 - - - Ensembl - ENSG00000006071 - - - Genatlas - ABCC8 - - - HGNC - 59 - - - IUPHAR - 2594 - - - OMIM - 600509 - - - Reactome - Q09428 - - - SwissProt - Q09428 - - - - - 11p15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 276598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276598 - Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency - - Disease - - - Disorder - - - - 21967988[PMID] - - ATP binding cassette subfamily C member 8 - ABCC8 - - ABC36 - HHF1 - HI - MRP8 - PHHI - SUR1 - TNDM2 - sulfonylurea receptor (hyperinsulinemia) - - - gene with protein product - - - - ClinVar - ABCC8 - - - Ensembl - ENSG00000006071 - - - Genatlas - ABCC8 - - - HGNC - 59 - - - IUPHAR - 2594 - - - OMIM - 600509 - - - Reactome - Q09428 - - - SwissProt - Q09428 - - - - - 11p15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 276603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276603 - Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency - - Disease - - - Disorder - - - - 21967988[PMID] - - potassium inwardly rectifying channel subfamily J member 11 - KCNJ11 - - ATP-sensitive inward rectifier potassium channel 11 - BIR - Kir6.2 - beta-cell inward rectifier - - - gene with protein product - - - - Ensembl - ENSG00000187486 - - - Genatlas - KCNJ11 - - - HGNC - 6257 - - - IUPHAR - 442 - - - OMIM - 600937 - - - Reactome - Q14654 - - - SwissProt - Q14654 - - - ClinVar - KCNJ11 - - - - - 11p15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 276621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276621 - Sporadic pheochromocytoma/secreting paraganglioma - - Disease - - - Disorder - - - - 12000816[PMID] - - succinate dehydrogenase complex subunit D - SDHD - - cybS - small subunit of cytochrome b - - - gene with protein product - - - - ClinVar - SDHD - - - Ensembl - ENSG00000204370 - - - Genatlas - SDHD - - - HGNC - 10683 - - - OMIM - 602690 - - - Reactome - O14521 - - - SwissProt - O14521 - - - - - 11q23.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 12000816[PMID] - - succinate dehydrogenase complex iron sulfur subunit B - SDHB - - iron-sulfur subunit of complex II - succinate dehydrogenase [ubiquinone] iron-sulfur subunit - - - gene with protein product - - - - ClinVar - SDHB - - - Reactome - P21912 - - - SwissProt - P21912 - - - Ensembl - ENSG00000117118 - - - Genatlas - SDHB - - - HGNC - 10681 - - - OMIM - 185470 - - - - - 1p36.13 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 29740169[PMID] - - DNA methyltransferase 3 alpha - DNMT3A - - - - gene with protein product - - - - ClinVar - DNMT3A - - - Ensembl - ENSG00000119772 - - - Genatlas - DNMT3A - - - HGNC - 2978 - - - IUPHAR - 2750 - - - OMIM - 602769 - - - Reactome - Q9Y6K1 - - - SwissProt - Q9Y6K1 - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 23418310[PMID] - - endothelial PAS domain protein 1 - EPAS1 - - HIF-1 alpha-like factor - HIF2A - HLF - MOP2 - PASD2 - bHLHe73 - - - gene with protein product - - - - IUPHAR - 3148 - - - ClinVar - EPAS1 - - - OMIM - 603349 - - - Reactome - Q99814 - - - SwissProt - Q99814 - - - Ensembl - ENSG00000116016 - - - Genatlas - EPAS1 - - - HGNC - 3374 - - - - - 2p21 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 12000816[PMID]_27539324[PMID] - - von Hippel-Lindau tumor suppressor - VHL - - VHL1 - - - gene with protein product - - - - ClinVar - VHL - - - IUPHAR - 3204 - - - Ensembl - ENSG00000134086 - - - Genatlas - VHL - - - HGNC - 12687 - - - OMIM - 608537 - - - Reactome - P40337 - - - SwissProt - P40337 - - - - - 3p25.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 12000816[PMID] - - ret proto-oncogene - RET - - CDHF12 - CDHR16 - PTC - RET receptor tyrosine kinase - RET51 - cadherin-related family member 16 - rearranged during transfection - - - gene with protein product - - - - ClinVar - RET - - - Ensembl - ENSG00000165731 - - - Genatlas - RET - - - HGNC - 9967 - - - IUPHAR - 2185 - - - OMIM - 164761 - - - SwissProt - P07949 - - - Reactome - P07949 - - - - - 10q11.21 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 276630 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276630 - Symptomatic form of Coffin-Lowry syndrome in female carriers - - Malformation syndrome - - - Disorder - - - - 20301520[PMID] - - ribosomal protein S6 kinase A3 - RPS6KA3 - - HU-3 - RSK - RSK2 - - - gene with protein product - - - - ClinVar - RPS6KA3 - - - HGNC - 10432 - - - IUPHAR - 1528 - - - OMIM - 300075 - - - Reactome - P51812 - - - SwissProt - P51812 - - - Ensembl - ENSG00000177189 - - - Genatlas - RPS6KA3 - - - - - Xp22.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3275 - Spondylocarpotarsal synostosis - - Malformation syndrome - - - Disorder - - - - 27381093[PMID] - - myosin heavy chain 3 - MYH3 - - HEMHC - MYHC-EMB - MYHSE1 - SMHCE - muscle embryonic myosin heavy chain 3 - myosin, skeletal, heavy chain, embryonic 1 - - - gene with protein product - - - - ClinVar - MYH3 - - - Ensembl - ENSG00000109063 - - - Genatlas - MYH3 - - - HGNC - 7573 - - - OMIM - 160720 - - - Reactome - P11055 - - - SwissProt - P11055 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301736[PMID] - - filamin B - FLNB - - ABP-278 - FH1 - TABP - TAP - actin binding protein 278 - beta filamin - - - gene with protein product - - - - Ensembl - ENSG00000136068 - - - Genatlas - FLNB - - - HGNC - 3755 - - - OMIM - 603381 - - - Reactome - O75369 - - - SwissProt - O75369 - - - ClinVar - FLNB - - - - - 3p14.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 425 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425 - Apolipoprotein A-I deficiency - - Disease - - - Disorder - - - - 8240372[PMID]_8282791[PMID] - - apolipoprotein A1 - APOA1 - - - - gene with protein product - - - - Ensembl - ENSG00000118137 - - - Genatlas - APOA1 - - - HGNC - 600 - - - OMIM - 107680 - - - Reactome - P02647 - - - SwissProt - P02647 - - - ClinVar - APOA1 - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15158913[PMID]_22959828[PMID] - - ATP binding cassette subfamily A member 1 - ABCA1 - - TGD - Tangier disease - - - gene with protein product - - - - IUPHAR - 756 - - - ClinVar - ABCA1 - - - Ensembl - ENSG00000165029 - - - Genatlas - ABCA1 - - - HGNC - 29 - - - OMIM - 600046 - - - Reactome - O95477 - - - SwissProt - O95477 - - - - - 9q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3301 - Tetraamelia-multiple malformations syndrome - - Malformation syndrome - - - Disorder - - - - 29769720[PMID] - - R-spondin 2 - RSPO2 - - MGC35555 - - - gene with protein product - - - - HGNC - 28583 - - - ClinVar - RSPO2 - - - Ensembl - ENSG00000147655 - - - SwissProt - Q6UXX9 - - - OMIM - 610575 - - - Genatlas - RSPO2 - - - Reactome - Q6UXX9 - - - - - 8q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31965066[PMID] - - T-box transcription factor 4 - TBX4 - - - - gene with protein product - - - - Ensembl - ENSG00000121075 - - - Genatlas - TBX4 - - - HGNC - 11603 - - - OMIM - 601719 - - - SwissProt - P57082 - - - ClinVar - TBX4 - - - - - 17q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 14872406[PMID]_20301453[PMID] - - Wnt family member 3 - WNT3 - - MGC131950 - MGC138321 - MGC138323 - WNT-3 proto-oncogene protein - - - gene with protein product - - - - ClinVar - WNT3 - - - Ensembl - ENSG00000108379 - - - Genatlas - WNT3 - - - HGNC - 12782 - - - OMIM - 165330 - - - Reactome - P56703 - - - SwissProt - P56703 - - - - - 17q21.31-q21.32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 276198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276198 - Spinocerebellar ataxia type 36 - - Disease - - - Disorder - - - - - - NOP56 ribonucleoprotein - NOP56 - - SCA36 - spinocerebellar ataxia 36 - - - gene with protein product - - - - ClinVar - NOP56 - - - Ensembl - ENSG00000101361 - - - Genatlas - NOP56 - - - HGNC - 15911 - - - OMIM - 614154 - - - Reactome - O00567 - - - SwissProt - O00567 - - - - - 20p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 276193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276193 - Spinocerebellar ataxia type 35 - - Disease - - - Disorder - - - - - - transglutaminase 6 - TGM6 - - SCA35 - TGY - dJ734P14.3 - spinocerebellar ataxia 35 - protein-glutamine gamma-glutamyltransferase 6 - - - gene with protein product - - - - Genatlas - TGM6 - - - HGNC - 16255 - - - OMIM - 613900 - - - SwissProt - O95932 - - - ClinVar - TGM6 - - - Ensembl - ENSG00000166948 - - - - - 20p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 276183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276183 - Spinocerebellar ataxia type 32 - - Disease - - - Disorder - - - - - - spinocerebellar ataxia 32 - SCA32 - - - - Disorder-associated locus - - - - SwissProt - - - - HGNC - 37475 - - - Ensembl - - - - OMIM - - - - - - 7q32-q33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 276238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276238 - Machado-Joseph disease type 1 - - Clinical subtype - - - Subtype of disorder - - - - - - ataxin 3 - ATXN3 - - ATX3 - JOS - - - gene with protein product - - - - Reactome - P54252 - - - ClinVar - ATXN3 - - - Ensembl - ENSG00000066427 - - - Genatlas - ATXN3 - - - HGNC - 7106 - - - OMIM - 607047 - - - SwissProt - P54252 - - - - - 14q32.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 276234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276234 - Non-syndromic male infertility due to sperm motility disorder - - Disease - - - Disorder - - - - 30122540[PMID] - - cilia and flagella associated protein 251 - CFAP251 - - MGC33630 - CaM-IP4 - - - gene with protein product - - - - HGNC - 28506 - - - Ensembl - ENSG00000158023 - - - SwissProt - Q8TBY9 - - - OMIM - 618146 - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28552195[PMID] - - cilia and flagella associated protein 43 - CFAP43 - - bA373N18.2 - FLJ22944 - FLJ36006 - - - gene with protein product - - - - HGNC - 26684 - - - Ensembl - ENSG00000197748 - - - SwissProt - Q8NDM7 - - - OMIM - 617558 - - - Genatlas - CFAP43 - - - ClinVar - CFAP43 - - - - - 10q25.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 28552195[PMID] - - cilia and flagella associated protein 44 - CFAP44 - - FLJ11142 - - - gene with protein product - - - - ClinVar - CFAP44 - - - HGNC - 25631 - - - Ensembl - ENSG00000206530 - - - SwissProt - Q96MT7 - - - OMIM - 617559 - - - Genatlas - CFAP44 - - - - - 3q13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 30686508[PMID] - - armadillo repeat containing 2 - ARMC2 - - DKFZp434P0714 - bA787I22.1 - - - gene with protein product - - - - HGNC - 23045 - - - Ensembl - ENSG00000118690 - - - SwissProt - Q8NEN0 - - - OMIM - 618424 - - - - - 6q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30929735[PMID] - - tetratricopeptide repeat domain 21A - TTC21A - - Thm2 - Stress-inducible protein 2 - STI2 - IFT139A - - - gene with protein product - - - - HGNC - 30761 - - - Ensembl - ENSG00000168026 - - - SwissProt - Q8NDW8 - - - Reactome - Q8NDW8 - - - OMIM - 611430 - - - - - 3p22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29365104[PMID] - - adenylate kinase 7 - AK7 - - FLJ32864 - FAP75 - CFAP75 - ATP-AMP transphosphorylase 7 - - - gene with protein product - - - - SwissProt - Q96M32 - - - HGNC - 20091 - - - Ensembl - ENSG00000140057 - - - OMIM - 615364 - - - Genatlas - AK7 - - - Reactome - Q96M32 - - - ClinVar - AK7 - - - - - 14q32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31413122[PMID] - - cilia and flagella associated protein 65 - CFAP65 - - DKFZp434O0527 - MGC35338 - - - gene with protein product - - - - HGNC - 25325 - - - Ensembl - ENSG00000181378 - - - SwissProt - Q6ZU64 - - - OMIM - 614270 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29606301[PMID] - - cilia and flagella associated protein 69 - CFAP69 - - FAP69 - flagellar protein 69 homolog (Chlamydomonas) - FLJ21062 - hypothetical protein FLJ21062 - - - gene with protein product - - - - ClinVar - CFAP69 - - - HGNC - 26107 - - - Ensembl - ENSG00000105792 - - - SwissProt - A5D8W1 - - - OMIM - 617949 - - - Genatlas - CFAP69 - - - - - 7q21.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34415320[PMID] - - A-kinase anchoring protein 4 - AKAP4 - - cancer/testis antigen 99 - CT99 - protein kinase A anchoring protein 4 - testis-specific gene HI - hAKAP82 - Fsc1 - A-kinase anchor protein 82 kDa - HI - AKAP82 - p82 - - - gene with protein product - - - - HGNC - 374 - - - OMIM - 300185 - - - Ensembl - ENSG00000147081 - - - SwissProt - Q5JQC9 - - - - - Xp11.22 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 28548327[PMID] - - sperm associated antigen 17 - SPAG17 - - CT143 - FLJ34497 - PF6 - RP4-776P7.2 - - - gene with protein product - - - - HGNC - 26620 - - - Ensembl - ENSG00000155761 - - - SwissProt - Q6Q759 - - - OMIM - 616554 - - - Genatlas - SPAG17 - - - ClinVar - SPAG17 - - - - - 1p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33626338[PMID] - - actin like 9 - ACTL9 - - MGC33407 - - - gene with protein product - - - - HGNC - 28494 - - - Ensembl - ENSG00000181786 - - - OMIM - 619251 - - - SwissProt - Q8TC94 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34202084[PMID] - - ubiquitin specific peptidase 26 - USP26 - - - - gene with protein product - - - - OMIM - 300309 - - - SwissProt - Q9BXU7 - - - Ensembl - ENSG00000134588 - - - HGNC - 13485 - - - - - Xq26.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30137358[PMID] - - fibrous sheath interacting protein 2 - FSIP2 - - FLJ34780 - - - gene with protein product - - - - HGNC - 21675 - - - Ensembl - ENSG00000188738 - - - SwissProt - Q5CZC0 - - - OMIM - 615796 - - - - - 2q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31621862[PMID] - - cilia and flagella associated protein 70 - CFAP70 - - FLJ25765 - - - gene with protein product - - - - HGNC - 30726 - - - Ensembl - ENSG00000156042 - - - SwissProt - Q5T0N1 - - - OMIM - 618661 - - - - - 10q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31735292[PMID]_31735294[PMID] - - tetratricopeptide repeat domain 29 - TTC29 - - NYD-SP14 - - - gene with protein product - - - - HGNC - 29936 - - - Ensembl - ENSG00000137473 - - - SwissProt - Q8NA56 - - - OMIM - 618735 - - - - - 4q31.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19344877[PMID] - - cation channel sperm associated 1 - CATSPER1 - - CATSPER - - - gene with protein product - - - - ClinVar - CATSPER1 - - - Ensembl - ENSG00000175294 - - - Genatlas - CATSPER1 - - - HGNC - 17116 - - - IUPHAR - 388 - - - OMIM - 606389 - - - Reactome - Q8NEC5 - - - SwissProt - Q8NEC5 - - - - - 11q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23582645[PMID] - - solute carrier family 26 member 8 - SLC26A8 - - Testis anion transporter 1 - TAT1 - - - gene with protein product - - - - IUPHAR - 1105 - - - Ensembl - ENSG00000112053 - - - Genatlas - SLC26A8 - - - HGNC - 14468 - - - OMIM - 608480 - - - SwissProt - Q96RN1 - - - Reactome - Q96RN1 - - - ClinVar - SLC26A8 - - - - - 6p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22275165[PMID] - - septin 12 - SEPTIN12 - - FLJ25410 - - - gene with protein product - - - - Ensembl - ENSG00000140623 - - - Genatlas - SEPT12 - - - HGNC - 26348 - - - OMIM - 611562 - - - SwissProt - Q8IYM1 - - - Reactome - Q8IYM1 - - - ClinVar - sept-12 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24360805[PMID] - - dynein axonemal heavy chain 1 - DNAH1 - - DNAHC1 - HDHC7 - HL-11 - HL11 - XLHSRF-1 - - - gene with protein product - - - - Ensembl - ENSG00000114841 - - - Genatlas - DNAH1 - - - HGNC - 2940 - - - OMIM - 603332 - - - SwissProt - Q9P2D7 - - - ClinVar - DNAH1 - - - - - 3p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 36796361[PMID] - - SSX family member 1 - SSX1 - - CT5.1 - cancer/testis antigen family 5, member 1 - - - gene with protein product - - - - Ensembl - ENSG00000126752 - - - Genatlas - SSX1 - - - HGNC - 11335 - - - OMIM - 312820 - - - SwissProt - Q16384 - - - ClinVar - SSX1 - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34169321[PMID] - - dynein regulatory complex subunit 1 - DRC1 - - CILD21 - FLJ32660 - MGC16372 - - - gene with protein product - - - - ClinVar - DRC1 - - - OMIM - 615288 - - - SwissProt - Q96MC2 - - - Ensembl - ENSG00000157856 - - - Genatlas - DRC1 - - - HGNC - 24245 - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 31178125[PMID] - - dynein axonemal heavy chain 17 - DNAH17 - - DNEL2 - FLJ40457 - - - gene with protein product - - - - HGNC - 2946 - - - Ensembl - ENSG00000187775 - - - SwissProt - Q9UFH2 - - - OMIM - 610063 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31151990[PMID] - - sperm flagellar 2 - SPEF2 - - KPL2 - FLJ23577 - CT122 - cancer/testis antigen 122 - - - gene with protein product - - - - HGNC - 26293 - - - Ensembl - ENSG00000152582 - - - SwissProt - Q9C093 - - - OMIM - 610172 - - - - - 5p13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 276223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276223 - Mucopolysaccharidosis type 6, slowly progressing - - Clinical subtype - - - Subtype of disorder - - - - - - arylsulfatase B - ARSB - - ASB - - - gene with protein product - - - - ClinVar - ARSB - - - Ensembl - ENSG00000113273 - - - Genatlas - ARSB - - - HGNC - 714 - - - OMIM - 611542 - - - Reactome - P15848 - - - SwissProt - P15848 - - - - - 5q14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 276212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276212 - Mucopolysaccharidosis type 6, rapidly progressing - - Clinical subtype - - - Subtype of disorder - - - - - - arylsulfatase B - ARSB - - ASB - - - gene with protein product - - - - ClinVar - ARSB - - - Ensembl - ENSG00000113273 - - - Genatlas - ARSB - - - HGNC - 714 - - - OMIM - 611542 - - - Reactome - P15848 - - - SwissProt - P15848 - - - - - 5q14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 276244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276244 - Machado-Joseph disease type 3 - - Clinical subtype - - - Subtype of disorder - - - - - - ataxin 3 - ATXN3 - - ATX3 - JOS - - - gene with protein product - - - - Reactome - P54252 - - - ClinVar - ATXN3 - - - Ensembl - ENSG00000066427 - - - Genatlas - ATXN3 - - - HGNC - 7106 - - - OMIM - 607047 - - - SwissProt - P54252 - - - - - 14q32.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 276241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276241 - Machado-Joseph disease type 2 - - Clinical subtype - - - Subtype of disorder - - - - - - ataxin 3 - ATXN3 - - ATX3 - JOS - - - gene with protein product - - - - Reactome - P54252 - - - ClinVar - ATXN3 - - - Ensembl - ENSG00000066427 - - - Genatlas - ATXN3 - - - HGNC - 7106 - - - OMIM - 607047 - - - SwissProt - P54252 - - - - - 14q32.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 276280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276280 - Hemihyperplasia-multiple lipomatosis syndrome - - Malformation syndrome - - - Disorder - - - - 24782230[PMID] - - phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha - PIK3CA - - PI3K - - - gene with protein product - - - - Reactome - P42336 - - - SwissProt - P42336 - - - Ensembl - ENSG00000121879 - - - Genatlas - PIK3CA - - - HGNC - 8975 - - - IUPHAR - 2153 - - - OMIM - 171834 - - - ClinVar - PIK3CA - - - - - 3q26.32 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 276399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276399 - Familial multinodular goiter - - Disease - - - Disorder - - - - 23724128[PMID] - - kelch like ECH associated protein 1 - KEAP1 - - INrf2 - kelch-like family member 19 - KIAA0132 - KLHL19 - MGC10630 - MGC1114 - MGC20887 - MGC4407 - MGC9454 - - - gene with protein product - - - - HGNC - 23177 - - - Ensembl - ENSG00000079999 - - - OMIM - 606016 - - - Genatlas - KEAP1 - - - SwissProt - Q14145 - - - Reactome - R-HSA-976038 - - - IUPHAR - 2757 - - - ClinVar - KEAP1 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21205968[PMID] - - dicer 1, ribonuclease III - DICER1 - - Dicer - HERNA - K12H4.8-LIKE - KIAA0928 - dicer 1, double-stranded RNA-specific endoribonuclease - - - gene with protein product - - - - ClinVar - DICER1 - - - Ensembl - ENSG00000100697 - - - Genatlas - DICER1 - - - HGNC - 17098 - - - OMIM - 606241 - - - Reactome - Q9UPY3 - - - SwissProt - Q9UPY3 - - - - - 14q32.13 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 3238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3238 - Cardiospondylocarpofacial syndrome - - Malformation syndrome - - - Disorder - - - - 27426734[PMID] - - mitogen-activated protein kinase kinase kinase 7 - MAP3K7 - - MEKK7 - TGF-beta activated kinase 1 - - - gene with protein product - - - - ClinVar - MAP3K7 - - - HGNC - 6859 - - - OMIM - 602614 - - - Genatlas - MAP3K7 - - - SwissProt - O43318 - - - Reactome - O43318 - - - Ensembl - ENSG00000135341 - - - IUPHAR - 2082 - - - - - 6q15 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3237 - Multiple synostoses syndrome - - Malformation syndrome - - - Disorder - - - - 16532400[PMID] - - growth differentiation factor 5 - GDF5 - - BMP14 - CDMP1 - cartilage-derived morphogenetic protein-1 - - - gene with protein product - - - - ClinVar - GDF5 - - - OMIM - 601146 - - - Reactome - P43026 - - - SwissProt - P43026 - - - Ensembl - ENSG00000125965 - - - Genatlas - GDF5 - - - HGNC - 4220 - - - - - 20q11.22 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 20503332[PMID]_25241334[PMID] - - noggin - NOG - - - - gene with protein product - - - - Ensembl - ENSG00000183691 - - - Genatlas - NOG - - - HGNC - 7866 - - - OMIM - 602991 - - - Reactome - Q13253 - - - SwissProt - Q13253 - - - ClinVar - NOG - - - - - 17q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19589401[PMID] - - fibroblast growth factor 9 - FGF9 - - glia-activating factor - - - gene with protein product - - - - ClinVar - FGF9 - - - Ensembl - ENSG00000102678 - - - Genatlas - FGF9 - - - HGNC - 3687 - - - OMIM - 600921 - - - Reactome - P31371 - - - SwissProt - P31371 - - - - - 13q12.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29130651[PMID] - - growth differentiation factor 6 - GDF6 - - BMP13 - KFS - KFS1 - - - gene with protein product - - - - ClinVar - GDF6 - - - Ensembl - ENSG00000156466 - - - Genatlas - GDF6 - - - HGNC - 4221 - - - OMIM - 601147 - - - SwissProt - Q6KF10 - - - - - 8q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 276405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276405 - Hyperbiliverdinemia - - Disease - - - Disorder - - - - 21278388[PMID] - - biliverdin reductase A - BLVRA - - BVRA - biliverdin reductase IXalpha - BVRalpha - - - gene with protein product - - - - ClinVar - BLVRA - - - OMIM - 109750 - - - Reactome - P53004 - - - SwissProt - P53004 - - - Ensembl - ENSG00000106605 - - - Genatlas - BLVRA - - - HGNC - 1062 - - - - - 7p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3250 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3250 - Proximal symphalangism - - Malformation syndrome - - - Disorder - - - - 18283415[PMID]_16892395[PMID] - - growth differentiation factor 5 - GDF5 - - BMP14 - CDMP1 - cartilage-derived morphogenetic protein-1 - - - gene with protein product - - - - ClinVar - GDF5 - - - OMIM - 601146 - - - Reactome - P43026 - - - SwissProt - P43026 - - - Ensembl - ENSG00000125965 - - - Genatlas - GDF5 - - - HGNC - 4220 - - - - - 20q11.22 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 11846737[PMID]_24326127[PMID] - - noggin - NOG - - - - gene with protein product - - - - Ensembl - ENSG00000183691 - - - Genatlas - NOG - - - HGNC - 7866 - - - OMIM - 602991 - - - Reactome - Q13253 - - - SwissProt - Q13253 - - - ClinVar - NOG - - - - - 17q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3255 - Filippi syndrome - - Malformation syndrome - - - Disorder - - - - 25439729[PMID] - - cytoskeleton associated protein 2 like - CKAP2L - - FLJ40629 - radial fiber and mitotic spindle - radmis - - - gene with protein product - - - - OMIM - 616174 - - - SwissProt - Q8IYA6 - - - ClinVar - CKAP2L - - - Ensembl - ENSG00000169607 - - - Genatlas - CKAP2L - - - HGNC - 26877 - - - - - 2q14.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 276556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276556 - Hyperinsulinism due to UCP2 deficiency - - Disease - - - Disorder - - - - 19065272[PMID]_25733449[PMID] - - uncoupling protein 2 - UCP2 - - SLC25A8 - - - gene with protein product - - - - IUPHAR - 1067 - - - Ensembl - ENSG00000175567 - - - Genatlas - UCP2 - - - HGNC - 12518 - - - OMIM - 601693 - - - Reactome - P55851 - - - SwissProt - P55851 - - - ClinVar - UCP2 - - - - - 11q13.4 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 276432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276432 - Ogden syndrome - - Malformation syndrome - - - Disorder - - - - 21700266[PMID] - - N-alpha-acetyltransferase 10, NatA catalytic subunit - NAA10 - - DXS707 - TE2 - arrest defective protein 1 - - - gene with protein product - - - - Ensembl - ENSG00000102030 - - - Genatlas - ARD1A - - - HGNC - 18704 - - - OMIM - 300013 - - - SwissProt - P41227 - - - ClinVar - ARD1A - - - Reactome - P41227 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3253 - Cleft lip/palate-ectodermal dysplasia syndrome - - Malformation syndrome - - - Disorder - - - - 10932188[PMID] - - nectin cell adhesion molecule 1 - NECTIN1 - - Nectin-1 - CLPED1 - HIgR - OFC7 - PRR - PRR1 - PVRR1 - SK-12 - nectin - CD111 - - - gene with protein product - - - - ClinVar - NECTIN1 - - - Ensembl - ENSG00000110400 - - - Genatlas - PVRL1 - - - HGNC - 9706 - - - OMIM - 600644 - - - Reactome - Q15223 - - - SwissProt - Q15223 - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 276435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276435 - Lower motor neuron syndrome with late-adult onset - - Disease - - - Disorder - - - - 25428574[PMID] - - coiled-coil-helix-coiled-coil-helix domain containing 10 - CHCHD10 - - MIX17 homolog A - MIX17A - N27C7-4 - - - gene with protein product - - - - Reactome - Q8WYQ3 - - - ClinVar - CHCHD10 - - - Ensembl - ENSG00000250479 - - - Genatlas - CHCHD10 - - - HGNC - 15559 - - - OMIM - 615903 - - - SwissProt - Q8WYQ3 - - - - - 22q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=911 - Combined immunodeficiency due to ZAP70 deficiency - - Disease - - - Disorder - - - - 20301777[PMID] - - zeta chain of T-cell receptor associated protein kinase 70 - ZAP70 - - STD - ZAP-70 - tyrosine-protein kinase ZAP-70 - - - gene with protein product - - - - ClinVar - ZAP70 - - - HGNC - 12858 - - - IUPHAR - 2285 - - - OMIM - 176947 - - - Reactome - P43403 - - - SwissProt - P43403 - - - Ensembl - ENSG00000115085 - - - Genatlas - ZAP70 - - - - - 2q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=746 - Mitochondrial trifunctional protein deficiency - - Disease - - - Disorder - - - - - - hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha - HADHA - - LCHAD - MTPA - gastrin-binding protein - long-chain 2-enoyl-CoA hydratase - long-chain-3-hydroxyacyl-CoA dehydrogenase - mitochondrial trifunctional protein, alpha subunit - GBP - LCEH - - - gene with protein product - - - - Ensembl - ENSG00000084754 - - - Genatlas - HADHA - - - HGNC - 4801 - - - OMIM - 600890 - - - Reactome - P40939 - - - SwissProt - P40939 - - - ClinVar - HADHA - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta - HADHB - - MTPB - mitochondrial trifunctional protein, beta subunit - - - gene with protein product - - - - HGNC - 4803 - - - OMIM - 143450 - - - Reactome - P55084 - - - SwissProt - P55084 - - - Ensembl - ENSG00000138029 - - - Genatlas - HADHB - - - ClinVar - HADHB - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=943 - Malonic aciduria - - Disease - - - Disorder - - - - 24613099[PMID] - - malonyl-CoA decarboxylase - MLYCD - - MCD - hMCD - - - gene with protein product - - - - IUPHAR - 1275 - - - Ensembl - ENSG00000103150 - - - Genatlas - MLYCD - - - HGNC - 7150 - - - OMIM - 606761 - - - Reactome - O95822 - - - SwissProt - O95822 - - - ClinVar - MLYCD - - - - - 16q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=621 - Hereditary methemoglobinemia - - Disease - - - Disorder - - - - 18820099[PMID]_18202104[PMID] - - cytochrome b5 reductase 3 - CYB5R3 - - NADH-cytochrome b5 reductase 3 - B5R - - - gene with protein product - - - - Ensembl - ENSG00000100243 - - - Genatlas - CYB5R3 - - - HGNC - 2873 - - - OMIM - 613213 - - - Reactome - P00387 - - - SwissProt - P00387 - - - ClinVar - CYB5R3 - - - - - 22q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - cytochrome b5 type A - CYB5A - - MCB5 - Microsomal cytochrome b5 - - - gene with protein product - - - - Ensembl - ENSG00000166347 - - - Genatlas - CYB5A - - - HGNC - 2570 - - - OMIM - 613218 - - - Reactome - P00167 - - - SwissProt - P00167 - - - ClinVar - CYB5A - - - - - 18q22.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 2089 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2089 - Glycogen storage disease due to hepatic glycogen synthase deficiency - - Disease - - - Disorder - - - - - - glycogen synthase 2 - GYS2 - - - - gene with protein product - - - - ClinVar - GYS2 - - - Ensembl - ENSG00000111713 - - - Genatlas - GYS2 - - - HGNC - 4707 - - - OMIM - 138571 - - - Reactome - P54840 - - - SwissProt - P54840 - - - - - 12p12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412 - Dysbetalipoproteinemia - - Disease - - - Disorder - - - - 24405372[PMID]_21463987[PMID] - - apolipoprotein E - APOE - - - - gene with protein product - - - - Ensembl - ENSG00000130203 - - - Genatlas - APOE - - - HGNC - 613 - - - OMIM - 107741 - - - Reactome - P02649 - - - SwissProt - P02649 - - - ClinVar - APOE - - - - - 19q13.32 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=743 - Severe hereditary thrombophilia due to congenital protein S deficiency - - Disease - - - Disorder - - - - 17849042[PMID]_19466456[PMID] - - protein S - PROS1 - - - - gene with protein product - - - - ClinVar - PROS1 - - - HGNC - 9456 - - - OMIM - 176880 - - - Reactome - P07225 - - - SwissProt - P07225 - - - Ensembl - ENSG00000184500 - - - Genatlas - PROS1 - - - - - 3q11.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 424 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424 - Familial hyperthyroidism due to mutations in TSH receptor - - Disease - - - Disorder - - - - 24947036[PMID]_23295291[PMID] - - thyroid stimulating hormone receptor - TSHR - - LGR3 - - - gene with protein product - - - - Ensembl - ENSG00000165409 - - - Genatlas - TSHR - - - HGNC - 12373 - - - IUPHAR - 255 - - - OMIM - 603372 - - - Reactome - P16473 - - - SwissProt - P16473 - - - ClinVar - TSHR - - - - - 14q24-q31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325 - Congenital factor II deficiency - - Disease - - - Disorder - - - - 25242243[PMID]_23852823[PMID]_20301327[PMID] - - coagulation factor II, thrombin - F2 - - prepro-coagulation factor II - - - gene with protein product - - - - ClinVar - F2 - - - Ensembl - ENSG00000180210 - - - Genatlas - F2 - - - HGNC - 3535 - - - IUPHAR - 2362 - - - OMIM - 176930 - - - Reactome - P00734 - - - SwissProt - P00734 - - - - - 11p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=343 - Hyperimmunoglobulinemia D with periodic fever - - Clinical subtype - - - Subtype of disorder - - - - 11313769[PMID]_10369262[PMID] - - mevalonate kinase - MVK - - LH receptor mRNA-binding protein - LRBP - MK - mevalonic aciduria - - - gene with protein product - - - - ClinVar - MVK - - - Ensembl - ENSG00000110921 - - - Genatlas - MVK - - - HGNC - 7530 - - - IUPHAR - 640 - - - OMIM - 251170 - - - Reactome - Q03426 - - - SwissProt - Q03426 - - - - - 12q24.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572 - Immunodeficiency by defective expression of MHC class II - - Disease - - - Disorder - - - - - - regulatory factor X5 - RFX5 - - - - gene with protein product - - - - ClinVar - RFX5 - - - Ensembl - ENSG00000143390 - - - Genatlas - RFX5 - - - HGNC - 9986 - - - OMIM - 601863 - - - SwissProt - P48382 - - - Reactome - P48382 - - - - - 1q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - regulatory factor X associated ankyrin containing protein - RFXANK - - ANKRA1 - BLS - DNA-binding protein RFXANK - F14150_1 - MGC138628 - RFX-B - RFX-Bdelta4 - ankyrin repeat-containing regulatory factor X-associated protein - regulatory factor X subunit B - - - gene with protein product - - - - ClinVar - RFXANK - - - Ensembl - ENSG00000064490 - - - Genatlas - RFXANK - - - HGNC - 9987 - - - OMIM - 603200 - - - SwissProt - O14593 - - - - - 19p13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - regulatory factor X associated protein - RFXAP - - - - gene with protein product - - - - Ensembl - ENSG00000133111 - - - Genatlas - RFXAP - - - HGNC - 9988 - - - OMIM - 601861 - - - SwissProt - O00287 - - - ClinVar - RFXAP - - - - - 13q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - class II major histocompatibility complex transactivator - CIITA - - C2TA - NLR family, acid domain containing - NLRA - nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing - - - gene with protein product - - - - Ensembl - ENSG00000179583 - - - Genatlas - CIITA - - - HGNC - 7067 - - - OMIM - 600005 - - - Reactome - P33076 - - - SwissProt - P33076 - - - IUPHAR - 1767 - - - ClinVar - CIITA - - - - - 16p13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1930 - Herpes simplex virus encephalitis - - Disease - - - Disorder - - - - 16973841[PMID] - - unc-93 homolog B1, TLR signaling regulator - UNC93B1 - - UNC93 - - - gene with protein product - - - - ClinVar - UNC93B1 - - - Ensembl - ENSG00000110057 - - - Genatlas - UNC93B1 - - - HGNC - 13481 - - - OMIM - 608204 - - - Reactome - Q9H1C4 - - - SwissProt - Q9H1C4 - - - - - 11q13.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 17872438[PMID] - - toll like receptor 3 - TLR3 - - CD283 - - - gene with protein product - - - - ClinVar - TLR3 - - - Ensembl - ENSG00000164342 - - - Genatlas - TLR3 - - - HGNC - 11849 - - - OMIM - 603029 - - - Reactome - O15455 - - - SwissProt - O15455 - - - IUPHAR - 1753 - - - - - 4q35.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22105173[PMID] - - TIR domain containing adaptor molecule 1 - TICAM1 - - TIR domain-containing adaptor-inducing interferon-ß - TIR domain-containing adapter molecule 1 - MGC35334 - PRVTIRB - TICAM-1 - TRIF - proline-rich, vinculin and TIR domain-containing protein B - TIR domain-containing adaptor-inducing interferon-beta - - - gene with protein product - - - - Ensembl - ENSG00000127666 - - - Genatlas - TICAM1 - - - HGNC - 18348 - - - OMIM - 607601 - - - Reactome - Q8IUC6 - - - SwissProt - Q8IUC6 - - - ClinVar - TICAM1 - - - - - 19p13.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 20832341[PMID] - - TNF receptor associated factor 3 - TRAF3 - - CAP-1 - CD40bp - CRAF1 - LAP1 - RNF118 - - - gene with protein product - - - - Ensembl - ENSG00000131323 - - - Genatlas - TRAF3 - - - HGNC - 12033 - - - OMIM - 601896 - - - Reactome - Q13114 - - - SwissProt - Q13114 - - - ClinVar - TRAF3 - - - - - 14q32.32 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22851595[PMID] - - TANK binding kinase 1 - TBK1 - - NAK - - - gene with protein product - - - - Ensembl - ENSG00000183735 - - - Genatlas - TBK1 - - - HGNC - 11584 - - - IUPHAR - 2237 - - - ClinVar - TBK1 - - - OMIM - 604834 - - - Reactome - Q9UHD2 - - - SwissProt - Q9UHD2 - - - - - 12q14.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158 - Systemic primary carnitine deficiency - - Disease - - - Disorder - - - - 22989098[PMID] - - solute carrier family 22 member 5 - SLC22A5 - - organic cation/carnitine transporter 2 - OCTN2 - SCD - systemic carnitine deficiency - - - gene with protein product - - - - IUPHAR - 1023 - - - Ensembl - ENSG00000197375 - - - Genatlas - SLC22A5 - - - HGNC - 10969 - - - OMIM - 603377 - - - Reactome - O76082 - - - SwissProt - O76082 - - - ClinVar - SLC22A5 - - - - - 5q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2056 - Essential fructosuria - - Disease - - - Disorder - - - - 7833921[PMID]_19237742[PMID] - - ketohexokinase - KHK - - fructokinase - - - gene with protein product - - - - Ensembl - ENSG00000138030 - - - Genatlas - KHK - - - HGNC - 6315 - - - OMIM - 614058 - - - Reactome - P50053 - - - SwissProt - P50053 - - - ClinVar - KHK - - - IUPHAR - 3236 - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 206436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206436 - Infantile Krabbe disease - - Clinical subtype - - - Subtype of disorder - - - - 15773042[PMID]_20301416[PMID] - - prosaposin - PSAP - - variant Gaucher disease and variant metachromatic leukodystrophy - precursor of saposins - saposin-A - saposin-B - saposin-D - saposin-C - - - gene with protein product - - - - SwissProt - P07602 - - - Ensembl - ENSG00000197746 - - - Genatlas - PSAP - - - HGNC - 9498 - - - OMIM - 176801 - - - Reactome - P07602 - - - ClinVar - PSAP - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301416[PMID]_23319190[PMID] - - galactosylceramidase - GALC - - Krabbe disease - - - gene with protein product - - - - ClinVar - GALC - - - SwissProt - P54803 - - - Ensembl - ENSG00000054983 - - - Genatlas - GALC - - - HGNC - 4115 - - - OMIM - 606890 - - - Reactome - P54803 - - - - - 14q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=820 - Sneddon syndrome - - Disease - - - Disorder - - - - 25075847[PMID]_25551694[PMID] - - adenosine deaminase 2 - ADA2 - - ADGF - - - gene with protein product - - - - Ensembl - ENSG00000093072 - - - Genatlas - CECR1 - - - HGNC - 1839 - - - OMIM - 607575 - - - Reactome - Q9NZK5 - - - SwissProt - Q9NZK5 - - - ClinVar - ADA2 - - - - - 22q11.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 1945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1945 - Self-limited epilepsy with centrotemporal spikes - - Disease - - - Disorder - - - - 25726841[PMID] - - gamma-aminobutyric acid type A receptor subunit gamma2 - GABRG2 - - GABA(A) receptor, gamma 2 - - - gene with protein product - - - - ClinVar - GABRG2 - - - Ensembl - ENSG00000113327 - - - Genatlas - GABRG2 - - - HGNC - 4087 - - - IUPHAR - 414 - - - OMIM - 137164 - - - Reactome - P18507 - - - SwissProt - P18507 - - - - - 5q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23933819[PMID] - - glutamate ionotropic receptor NMDA type subunit 2A - GRIN2A - - GluN2A - NR2A - - - gene with protein product - - - - ClinVar - GRIN2A - - - Ensembl - ENSG00000183454 - - - Genatlas - GRIN2A - - - HGNC - 4585 - - - IUPHAR - 456 - - - OMIM - 138253 - - - Reactome - Q12879 - - - SwissProt - Q12879 - - - - - 16p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - sushi repeat containing protein X-linked 2 - SRPX2 - - SRPUL - - - gene with protein product - - - - Ensembl - ENSG00000102359 - - - Genatlas - SRPX2 - - - HGNC - 30668 - - - OMIM - 300642 - - - SwissProt - O60687 - - - ClinVar - SRPX2 - - - - - Xq22.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=832 - Succinyl-CoA:3-oxoacid CoA transferase deficiency - - Disease - - - Disorder - - - - 23420214[PMID]_21296660[PMID] - - 3-oxoacid CoA-transferase 1 - OXCT1 - - SCOT - Succinyl-CoA:3-ketoacid-CoA transferase - - - gene with protein product - - - - Ensembl - ENSG00000083720 - - - Genatlas - OXCT1 - - - HGNC - 8527 - - - OMIM - 601424 - - - Reactome - P55809 - - - SwissProt - P55809 - - - ClinVar - OXCT1 - - - - - 5p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 6 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=6 - 3-methylcrotonyl-CoA carboxylase deficiency - - Disease - - - Disorder - - - - 22642865[PMID]_22264772[PMID] - - methylcrotonyl-CoA carboxylase subunit 1 - MCCC1 - - MCCA - methylcrotonoyl-CoA carboxylase alpha - MCCCa - 3-methylcrotonyl-CoA carboxylase biotin containing subunit - MCCCα - - - gene with protein product - - - - Ensembl - ENSG00000078070 - - - Genatlas - MCCC1 - - - HGNC - 6936 - - - OMIM - 609010 - - - Reactome - Q96RQ3 - - - SwissProt - Q96RQ3 - - - ClinVar - MCCC1 - - - - - 3q27.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22642865[PMID]_22264772[PMID] - - methylcrotonyl-CoA carboxylase subunit 2 - MCCC2 - - MCCB - methylcrotonoyl-CoA carboxylase beta - MCCCß - 3-methylcrotonyl-CoA carboxylase non-biotin containing subunit - - - gene with protein product - - - - Ensembl - ENSG00000131844 - - - Genatlas - MCCC2 - - - HGNC - 6937 - - - OMIM - 609014 - - - Reactome - Q9HCC0 - - - SwissProt - Q9HCC0 - - - ClinVar - MCCC2 - - - - - 5q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 20 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=20 - 3-hydroxy-3-methylglutaric aciduria - - Disease - - - Disorder - - - - 19177531[PMID] - - 3-hydroxy-3-methylglutaryl-CoA lyase - HMGCL - - HMG-CoA lyase - HMGCL1 - Hydroxymethylglutaryl-CoA lyase, mitochondrial - hydroxymethylglutaryl-CoA lyase - HL - hydroxymethylglutaricaciduria - - - gene with protein product - - - - ClinVar - HMGCL - - - Ensembl - ENSG00000117305 - - - Genatlas - HMGCL - - - HGNC - 5005 - - - OMIM - 613898 - - - Reactome - P35914 - - - SwissProt - P35914 - - - - - 1p36.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 714 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714 - Hemolytic anemia due to diphosphoglycerate mutase deficiency - - Disease - - - Disorder - - - - 15054810[PMID] - - bisphosphoglycerate mutase - BPGM - - - - gene with protein product - - - - ClinVar - BPGM - - - HGNC - 1093 - - - OMIM - 613896 - - - SwissProt - P07738 - - - Ensembl - ENSG00000172331 - - - Genatlas - BPGM - - - Reactome - P07738 - - - - - 7q33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=712 - Hemolytic anemia due to glucophosphate isomerase deficiency - - Disease - - - Disorder - - - - 9446754[PMID]_22782259[PMID] - - glucose-6-phosphate isomerase - GPI - - AMF - NLK - - - gene with protein product - - - - ClinVar - GPI - - - Ensembl - ENSG00000105220 - - - Genatlas - GPI - - - HGNC - 4458 - - - OMIM - 172400 - - - Reactome - P06744 - - - SwissProt - P06744 - - - - - 19q13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 206546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206546 - Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers - - Disease - - - Disorder - - - - - - dystrophin - DMD - - BMD - DXS142 - DXS164 - DXS206 - DXS230 - DXS239 - DXS268 - DXS269 - DXS270 - DXS272 - muscular dystrophy, Duchenne and Becker types - - - gene with protein product - - - - Ensembl - ENSG00000198947 - - - Genatlas - DMD - - - HGNC - 2928 - - - OMIM - 300377 - - - Reactome - P11532 - - - SwissProt - P11532 - - - ClinVar - DMD - - - - - Xp21.2-p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 206554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206554 - Fukutin-related limb-girdle muscular dystrophy R13 - - Disease - - - Disorder - - - - 20301582[PMID] - - fukutin - FKTN - - LGMD2M - Ribitol-5-phosphate transferase - - - gene with protein product - - - - ClinVar - FKTN - - - Ensembl - ENSG00000106692 - - - Genatlas - FKTN - - - HGNC - 3622 - - - OMIM - 607440 - - - SwissProt - O75072 - - - - - 9q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 206549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206549 - Anoctamin-5-related limb-girdle muscular dystrophy R12 - - Disease - - - Disorder - - - - 20301582[PMID] - - anoctamin 5 - ANO5 - - GDD1 - - - gene with protein product - - - - Ensembl - ENSG00000171714 - - - Genatlas - ANO5 - - - HGNC - 27337 - - - OMIM - 608662 - - - Reactome - Q75V66 - - - SwissProt - Q75V66 - - - ClinVar - ANO5 - - - - - 11p14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 206564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206564 - POMGNT1-related limb-girdle muscular dystrophy R15 - - Disease - - - Disorder - - - - 20301582[PMID]_18195152[PMID] - - protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) - POMGNT1 - - FLJ20277 - LGMD2O - MGAT1.2 - protein O-mannose beta-1,2-N-acetylglucosaminyltransferase - - - gene with protein product - - - - Reactome - Q8WZA1 - - - Ensembl - ENSG00000085998 - - - Genatlas - POMGNT1 - - - HGNC - 19139 - - - OMIM - 606822 - - - SwissProt - Q8WZA1 - - - ClinVar - POMGNT1 - - - - - 1p34.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 206559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206559 - POMT2-related limb-girdle muscular dystrophy R14 - - Disease - - - Disorder - - - - 20301582[PMID] - - protein O-mannosyltransferase 2 - POMT2 - - Dolichyl-phosphate-mannose--protein mannosyltransferase - LGMD2N - - - gene with protein product - - - - Reactome - Q9UKY4 - - - ClinVar - POMT2 - - - Ensembl - ENSG00000009830 - - - Genatlas - POMT2 - - - HGNC - 19743 - - - OMIM - 607439 - - - SwissProt - Q9UKY4 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 206580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206580 - Autosomal recessive lower motor neuron disease with childhood onset - - Disease - - - Disorder - - - - 17564964[PMID] - - pleckstrin homology and RhoGEF domain containing G5 - PLEKHG5 - - GEF720 - KIAA0720 - Syx - Tech - synectin-binding guanine exchange factor - ARHGEF45 - - - gene with protein product - - - - Ensembl - ENSG00000171680 - - - Genatlas - PLEKHG5 - - - HGNC - 29105 - - - ClinVar - PLEKHG5 - - - OMIM - 611101 - - - Reactome - O94827 - - - SwissProt - O94827 - - - - - 1p36.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 206443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206443 - Late-infantile/juvenile Krabbe disease - - Clinical subtype - - - Subtype of disorder - - - - 20301416[PMID]_23319190[PMID] - - galactosylceramidase - GALC - - Krabbe disease - - - gene with protein product - - - - ClinVar - GALC - - - SwissProt - P54803 - - - Ensembl - ENSG00000054983 - - - Genatlas - GALC - - - HGNC - 4115 - - - OMIM - 606890 - - - Reactome - P54803 - - - - - 14q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 206448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206448 - Adult Krabbe disease - - Clinical subtype - - - Subtype of disorder - - - - 20301416[PMID]_23319190[PMID] - - galactosylceramidase - GALC - - Krabbe disease - - - gene with protein product - - - - ClinVar - GALC - - - SwissProt - P54803 - - - Ensembl - ENSG00000054983 - - - Genatlas - GALC - - - HGNC - 4115 - - - OMIM - 606890 - - - Reactome - P54803 - - - - - 14q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2680 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2680 - Hypomyelination neuropathy-arthrogryposis syndrome - - Malformation syndrome - - - Disorder - - - - 24319099[PMID] - - contactin associated protein 1 - CNTNAP1 - - CNTNAP - Caspr - neurexin 4 - p190 - - - gene with protein product - - - - Ensembl - ENSG00000108797 - - - Genatlas - CNTNAP1 - - - HGNC - 8011 - - - OMIM - 602346 - - - Reactome - P78357 - - - SwissProt - P78357 - - - ClinVar - CNTNAP1 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24319099[PMID] - - adenylate cyclase 6 - ADCY6 - - AC6 - - - gene with protein product - - - - Reactome - O43306 - - - SwissProt - O43306 - - - Ensembl - ENSG00000174233 - - - Genatlas - ADCY6 - - - HGNC - 237 - - - OMIM - 600294 - - - IUPHAR - 1283 - - - ClinVar - ADCY6 - - - - - 12q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28318499[PMID] - - leucine rich repeat LGI family member 4 - LGI4 - - - - gene with protein product - - - - ClinVar - LGI4 - - - HGNC - 18712 - - - Genatlas - LGI4 - - - Reactome - Q8N135 - - - Ensembl - ENSG00000153902 - - - SwissProt - Q8N135 - - - OMIM - 608303 - - - - - 19q13.12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633 - Laron syndrome - - Disease - - - Disorder - - - - 18406284[PMID]_24664892[PMID] - - growth hormone receptor - GHR - - GHBP - growth hormone binding protein - - - gene with protein product - - - - ClinVar - GHR - - - Ensembl - ENSG00000112964 - - - Genatlas - GHR - - - HGNC - 4263 - - - IUPHAR - 1720 - - - OMIM - 600946 - - - Reactome - P10912 - - - SwissProt - P10912 - - - - - 5p13.1-p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478 - Kallmann syndrome - - Clinical subtype - - - Subtype of disorder - - - - 28324054[PMID] - - coiled-coil domain containing 141 - CCDC141 - - CAMDI - coiled-coil protein associated with myosin II and DISC1 - FLJ39502 - - - gene with protein product - - - - HGNC - 26821 - - - ClinVar - CCDC141 - - - Ensembl - ENSG00000163492 - - - SwissProt - Q6ZP82 - - - OMIM - 616031 - - - Genatlas - CCDC141 - - - - - 2q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18682503[PMID] - - prokineticin 2 - PROK2 - - BV8 - KAL4 - MIT1 - PK2 - protein Bv8 homolog - - - gene with protein product - - - - ClinVar - PROK2 - - - Ensembl - ENSG00000163421 - - - Genatlas - PROK2 - - - HGNC - 18455 - - - OMIM - 607002 - - - Reactome - Q9HC23 - - - SwissProt - Q9HC23 - - - - - 3p13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 18682503[PMID] - - prokineticin receptor 2 - PROKR2 - - GPR73b - GPRg2 - PKR2 - dJ680N4.3 - - - gene with protein product - - - - ClinVar - PROKR2 - - - Ensembl - ENSG00000101292 - - - Genatlas - PROKR2 - - - HGNC - 15836 - - - IUPHAR - 336 - - - OMIM - 607123 - - - Reactome - Q8NFJ6 - - - SwissProt - Q8NFJ6 - - - - - 20p12.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 18834967[PMID] - - chromodomain helicase DNA binding protein 7 - CHD7 - - FLJ20357 - FLJ20361 - KIAA1416 - - - gene with protein product - - - - Ensembl - ENSG00000171316 - - - Genatlas - CHD7 - - - HGNC - 20626 - - - OMIM - 608892 - - - SwissProt - Q9P2D1 - - - ClinVar - CHD7 - - - - - 8q12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23643381[PMID] - - SRY-box transcription factor 10 - SOX10 - - DOM - WS2E - WS4 - dominant megacolon, mouse, human homolog of - SOX-10 - - - gene with protein product - - - - ClinVar - SOX10 - - - Ensembl - ENSG00000100146 - - - Genatlas - SOX10 - - - HGNC - 11190 - - - OMIM - 602229 - - - SwissProt - P56693 - - - Reactome - P56693 - - - - - 22q13.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 17235395[PMID] - - fibroblast growth factor receptor 1 - FGFR1 - - BFGFR - CD331 - CEK - FLG - H2 - H3 - H4 - H5 - N-SAM - Pfeiffer syndrome - - - gene with protein product - - - - Ensembl - ENSG00000077782 - - - Genatlas - FGFR1 - - - HGNC - 3688 - - - IUPHAR - 1808 - - - OMIM - 136350 - - - Reactome - P11362 - - - SwissProt - P11362 - - - ClinVar - FGFR1 - - - - - 8p11.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23465708[PMID] - - HESX homeobox 1 - HESX1 - - Rathke's pouch homeobox - ANF - RPX - - - gene with protein product - - - - Reactome - Q9UBX0 - - - ClinVar - HESX1 - - - Ensembl - ENSG00000163666 - - - Genatlas - HESX1 - - - HGNC - 4877 - - - OMIM - 601802 - - - SwissProt - Q9UBX0 - - - - - 3p14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21168128[PMID] - - anosmin 1 - ANOS1 - - Adhesion molecule-like, X-linked - KALIG-1 - Kallmann syndrome interval gene 1 - WAP four-disulfide core domain 19 - WFDC19 - anosmin-1 - - - gene with protein product - - - - Ensembl - ENSG00000011201 - - - Genatlas - KAL1 - - - HGNC - 6211 - - - OMIM - 300836 - - - Reactome - P23352 - - - SwissProt - P23352 - - - ClinVar - KAL1 - - - - - Xp22.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 18596921[PMID]_20463092[PMID] - - fibroblast growth factor 8 - FGF8 - - AIGF - androgen-induced growth factor - - - gene with protein product - - - - SwissProt - P55075 - - - Ensembl - ENSG00000107831 - - - Genatlas - FGF8 - - - HGNC - 3686 - - - OMIM - 600483 - - - Reactome - P55075 - - - ClinVar - FGF8 - - - - - 10q24.32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20887964[PMID] - - WD repeat domain 11 - WDR11 - - DR11 - FLJ10506 - HH14 - KIAA1351 - WDR15 - SRI1 - sensitization to ricin complex subunit 1 - - - gene with protein product - - - - Ensembl - ENSG00000120008 - - - Genatlas - WDR11 - - - HGNC - 13831 - - - OMIM - 606417 - - - SwissProt - Q9BZH6 - - - ClinVar - WDR11 - - - - - 10q26.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21700882[PMID]_23997646[PMID] - - heparan sulfate 6-O-sulfotransferase 1 - HS6ST1 - - - - gene with protein product - - - - ClinVar - HS6ST1 - - - Ensembl - ENSG00000136720 - - - Genatlas - HS6ST1 - - - HGNC - 5201 - - - OMIM - 604846 - - - Reactome - O60243 - - - SwissProt - O60243 - - - - - 2q14.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22416012[PMID] - - semaphorin 3A - SEMA3A - - Coll-1 - Hsema-I - SEMA1 - SemD - Sema III - sema III - coll-1 - - - gene with protein product - - - - Ensembl - ENSG00000075213 - - - Genatlas - SEMA3A - - - HGNC - 10723 - - - OMIM - 603961 - - - Reactome - Q14563 - - - SwissProt - Q14563 - - - ClinVar - SEMA3A - - - - - 7q21.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23643382[PMID] - - interleukin 17 receptor D - IL17RD - - similar expression to fgf genes - FLJ35755 - IL-17RD - IL17RLM - SEF - - - gene with protein product - - - - ClinVar - IL17RD - - - IUPHAR - 1741 - - - Ensembl - ENSG00000144730 - - - Genatlas - IL17RD - - - HGNC - 17616 - - - OMIM - 606807 - - - Reactome - Q8NFM7 - - - SwissProt - Q8NFM7 - - - - - 3p14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23643382[PMID] - - fibroblast growth factor 17 - FGF17 - - FGF-13 - - - gene with protein product - - - - ClinVar - FGF17 - - - Genatlas - FGF17 - - - HGNC - 3673 - - - OMIM - 603725 - - - Reactome - O60258 - - - SwissProt - O60258 - - - Ensembl - ENSG00000158815 - - - - - 8p21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23643382[PMID] - - dual specificity phosphatase 6 - DUSP6 - - MKP-3 - PYST1 - - - gene with protein product - - - - ClinVar - DUSP6 - - - Ensembl - ENSG00000139318 - - - Genatlas - DUSP6 - - - HGNC - 3072 - - - OMIM - 602748 - - - Reactome - Q16828 - - - SwissProt - Q16828 - - - - - 12q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23643382[PMID] - - sprouty RTK signaling antagonist 4 - SPRY4 - - - - gene with protein product - - - - ClinVar - SPRY4 - - - Reactome - Q9C004 - - - Ensembl - ENSG00000187678 - - - Genatlas - SPRY4 - - - HGNC - 15533 - - - OMIM - 607984 - - - SwissProt - Q9C004 - - - - - 5q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23643382[PMID] - - fibronectin leucine rich transmembrane protein 3 - FLRT3 - - - - gene with protein product - - - - Reactome - Q9NZU0 - - - ClinVar - FLRT3 - - - Ensembl - ENSG00000125848 - - - Genatlas - FLRT3 - - - HGNC - 3762 - - - OMIM - 604808 - - - SwissProt - Q9NZU0 - - - - - 20p12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25192046[PMID] - - FEZ family zinc finger 1 - FEZF1 - - - - gene with protein product - - - - ClinVar - FEZF1 - - - Ensembl - ENSG00000128610 - - - Genatlas - FEZF1 - - - HGNC - 22788 - - - OMIM - 613301 - - - SwissProt - A0PJY2 - - - - - 7q31.32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 29202173[PMID] - - DCC netrin 1 receptor - DCC - - IGDCC1 - NTN1R1 - immunoglobulin superfamily, DCC subclass, member 1 - - - gene with protein product - - - - Ensembl - ENSG00000187323 - - - Genatlas - DCC - - - HGNC - 2701 - - - OMIM - 120470 - - - Reactome - P43146 - - - SwissProt - P43146 - - - ClinVar - DCC - - - - - 18q21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 31883645[PMID] - - neuron derived neurotrophic factor - NDNF - - FLJ23191 - - - gene with protein product - - - - HGNC - 26256 - - - Ensembl - ENSG00000173376 - - - SwissProt - Q8TB73 - - - OMIM - 616506 - - - - - 4q27 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23643382[PMID]_19079066[PMID] - - tachykinin receptor 3 - TACR3 - - neuromedin-K receptor - NK3R - neurokinin beta receptor - NK3 - NK3 receptor - NKR - TAC3R - neurokinin B receptor - - - gene with protein product - - - - Ensembl - ENSG00000169836 - - - Genatlas - TACR3 - - - HGNC - 11528 - - - IUPHAR - 362 - - - OMIM - 162332 - - - Reactome - P29371 - - - SwissProt - P29371 - - - ClinVar - TACR3 - - - - - 4q24 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28324054[PMID] - - coiled-coil domain containing 141 - CCDC141 - - CAMDI - coiled-coil protein associated with myosin II and DISC1 - FLJ39502 - - - gene with protein product - - - - HGNC - 26821 - - - ClinVar - CCDC141 - - - Ensembl - ENSG00000163492 - - - SwissProt - Q6ZP82 - - - OMIM - 616031 - - - Genatlas - CCDC141 - - - - - 2q31.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=822 - Hereditary spherocytosis - - Disease - - - Disorder - - - - 23664421[PMID] - - solute carrier family 4 member 1 (Diego blood group) - SLC4A1 - - CD233 - FR - Froese blood group - RTA1A - SW - Swann blood group - WR - Wright blood group - EMPB3 - Band 3 anion transport protein - - - gene with protein product - - - - ClinVar - SLC4A1 - - - IUPHAR - 904 - - - OMIM - 109270 - - - Reactome - P02730 - - - SwissProt - P02730 - - - Ensembl - ENSG00000004939 - - - Genatlas - SLC4A1 - - - HGNC - 11027 - - - - - 17q21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23664421[PMID] - - spectrin alpha, erythrocytic 1 - SPTA1 - - EL2 - elliptocytosis 2 - - - gene with protein product - - - - Ensembl - ENSG00000163554 - - - Genatlas - SPTA1 - - - HGNC - 11272 - - - OMIM - 182860 - - - Reactome - P02549 - - - SwissProt - P02549 - - - ClinVar - SPTA1 - - - - - 1q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23664421[PMID] - - spectrin beta, erythrocytic - SPTB - - spherocytosis, clinical type I - - - gene with protein product - - - - Ensembl - ENSG00000070182 - - - Genatlas - SPTB - - - HGNC - 11274 - - - OMIM - 182870 - - - Reactome - P11277 - - - SwissProt - P11277 - - - ClinVar - SPTB - - - - - 14q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23664421[PMID] - - ankyrin 1 - ANK1 - - SPH1 - - - gene with protein product - - - - ClinVar - ANK1 - - - Ensembl - ENSG00000029534 - - - Genatlas - ANK1 - - - HGNC - 492 - - - OMIM - 612641 - - - Reactome - P16157 - - - SwissProt - P16157 - - - - - 8p11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23664421[PMID] - - erythrocyte membrane protein band 4.2 - EPB42 - - Erythrocyte surface protein band 4.2 - MGC116735 - MGC116737 - PA - - - gene with protein product - - - - ClinVar - EPB42 - - - Ensembl - ENSG00000166947 - - - Genatlas - EPB42 - - - HGNC - 3381 - - - OMIM - 177070 - - - SwissProt - P16452 - - - - - 15q15.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910 - Xeroderma pigmentosum - - Disease - - - Disorder - - - - 20301571[PMID] - - XPA, DNA damage recognition and repair factor - XPA - - XP1 - XPAC - - - gene with protein product - - - - ClinVar - XPA - - - Ensembl - ENSG00000136936 - - - Genatlas - XPA - - - HGNC - 12814 - - - OMIM - 611153 - - - Reactome - P23025 - - - SwissProt - P23025 - - - - - 9q22.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301571[PMID] - - ERCC excision repair 3, TFIIH core complex helicase subunit - ERCC3 - - BTF2 - GTF2H - RAD25 - TFIIH - XPB - xeroderma pigmentosum group B complementing - Ssl2 - - - gene with protein product - - - - Ensembl - ENSG00000163161 - - - Genatlas - ERCC3 - - - HGNC - 3435 - - - OMIM - 133510 - - - Reactome - P19447 - - - SwissProt - P19447 - - - ClinVar - ERCC3 - - - - - 2q14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301571[PMID] - - XPC complex subunit, DNA damage recognition and repair factor - XPC - - RAD4 - XPCC - xeroderma pigmentosum group C protein - - - gene with protein product - - - - ClinVar - XPC - - - Ensembl - ENSG00000154767 - - - Genatlas - XPC - - - HGNC - 12816 - - - OMIM - 613208 - - - Reactome - Q01831 - - - SwissProt - Q01831 - - - - - 3p25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301571[PMID] - - damage specific DNA binding protein 2 - DDB2 - - DDB p48 subunit - DDBB - FLJ34321 - UV-DDB2 - UV-damaged DNA-binding protein 2 - XPE - xeroderma pigmentosum group E protein - - - gene with protein product - - - - Ensembl - ENSG00000134574 - - - ClinVar - DDB2 - - - Genatlas - DDB2 - - - HGNC - 2718 - - - OMIM - 600811 - - - Reactome - Q92466 - - - SwissProt - Q92466 - - - - - 11p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301571[PMID] - - ERCC excision repair 4, endonuclease catalytic subunit - ERCC4 - - FANCQ - RAD1 - xeroderma pigmentosum, complementation group F - - - gene with protein product - - - - ClinVar - ERCC4 - - - HGNC - 3436 - - - OMIM - 133520 - - - Reactome - Q92889 - - - SwissProt - Q92889 - - - Ensembl - ENSG00000175595 - - - Genatlas - ERCC4 - - - - - 16p13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301571[PMID] - - ERCC excision repair 5, endonuclease - ERCC5 - - Cockayne syndrome - - - gene with protein product - - - - Genatlas - ERCC5 - - - HGNC - 3437 - - - OMIM - 133530 - - - Reactome - P28715 - - - SwissProt - P28715 - - - Ensembl - ENSG00000134899 - - - ClinVar - ERCC5 - - - - - 13q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301571[PMID] - - ERCC excision repair 2, TFIIH core complex helicase subunit - ERCC2 - - EM9 - MAG - MGC102762 - MGC126218 - MGC126219 - TFIIH - TFIIH basal transcription factor complex helicase XPB subunit - excision repair cross-complementing rodent repair deficiency, complementation group 2 protein - - - gene with protein product - - - - ClinVar - ERCC2 - - - Ensembl - ENSG00000104884 - - - Genatlas - ERCC2 - - - HGNC - 3434 - - - OMIM - 126340 - - - Reactome - P18074 - - - SwissProt - P18074 - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=229 - Familial aortic dissection - - Disease - - - Disorder - - - - - - myosin heavy chain 11 - MYH11 - - SMHC - SMMHC - SMMS-1 - - - gene with protein product - - - - ClinVar - MYH11 - - - Ensembl - ENSG00000133392 - - - Genatlas - MYH11 - - - HGNC - 7569 - - - OMIM - 160745 - - - Reactome - P35749 - - - SwissProt - P35749 - - - - - 16p13.11 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=777 - X-linked non-syndromic intellectual disability - - Etiological subtype - - - Subtype of disorder - - - - 29374277[PMID] - - STING1 ER exit protein 1 - STEEP1 - - FLJ22965 - - - gene with protein product - - - - ClinVar - CXorf56 - - - HGNC - 26239 - - - Ensembl - ENSG00000018610 - - - SwissProt - Q9H5V9 - - - OMIM - 301012 - - - Genatlas - CXorf56 - - - Reactome - Q9H5V9 - - - - - Xq24 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25886057[PMID]_24278995[PMID] - - calcium/calmodulin dependent serine protein kinase - CASK - - CAGH39 - FGS4 - LIN2 - - - gene with protein product - - - - ClinVar - CASK - - - Ensembl - ENSG00000147044 - - - Genatlas - CASK - - - HGNC - 1497 - - - IUPHAR - 1959 - - - OMIM - 300172 - - - Reactome - O14936 - - - SwissProt - O14936 - - - - - Xp11.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17100996[PMID] - - ribosomal protein S6 kinase A3 - RPS6KA3 - - HU-3 - RSK - RSK2 - - - gene with protein product - - - - ClinVar - RPS6KA3 - - - HGNC - 10432 - - - IUPHAR - 1528 - - - OMIM - 300075 - - - Reactome - P51812 - - - SwissProt - P51812 - - - Ensembl - ENSG00000177189 - - - Genatlas - RPS6KA3 - - - - - Xp22.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15850492[PMID] - - aristaless related homeobox - ARX - - CT121 - EIEE1 - ISSX - cancer/testis antigen 121 - - - gene with protein product - - - - ClinVar - ARX - - - SwissProt - Q96QS3 - - - Ensembl - ENSG00000004848 - - - Genatlas - ARX - - - HGNC - 18060 - - - OMIM - 300382 - - - - - Xp21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23900271[PMID] - - dystrophin - DMD - - BMD - DXS142 - DXS164 - DXS206 - DXS230 - DXS239 - DXS268 - DXS269 - DXS270 - DXS272 - muscular dystrophy, Duchenne and Becker types - - - gene with protein product - - - - Ensembl - ENSG00000198947 - - - Genatlas - DMD - - - HGNC - 2928 - - - OMIM - 300377 - - - Reactome - P11532 - - - SwissProt - P11532 - - - ClinVar - DMD - - - - - Xp21.2-p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18081026[PMID] - - FtsJ RNA 2'-O-methyltransferase 1 - FTSJ1 - - CDLIV - JM23 - SPB1 - TRM7 - TRMT7 - tRNA methyltransferase 7 homolog (S. cerevisiae) - - - gene with protein product - - - - ClinVar - FTSJ1 - - - Reactome - Q9UET6 - - - Ensembl - ENSG00000068438 - - - Genatlas - FTSJ1 - - - HGNC - 13254 - - - OMIM - 300499 - - - SwissProt - Q9UET6 - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22002931[PMID] - - GDP dissociation inhibitor 1 - GDI1 - - FLJ41411 - OPHN2 - RABGDIA - XAP-4 - mental retardation, X-linked 41 - mental retardation, X-linked 48 - rab GDP-dissociation inhibitor, alpha - oligophrenin-2 - - - gene with protein product - - - - ClinVar - GDI1 - - - Ensembl - ENSG00000203879 - - - Genatlas - GDI1 - - - HGNC - 4226 - - - OMIM - 300104 - - - Reactome - P31150 - - - SwissProt - P31150 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - mediator complex subunit 12 - MED12 - - CAGH45 - HOPA - KIAA0192 - OKS - OPA1 - TRAP230 - ARC240 - Kto - Kohtalo homolog - - - gene with protein product - - - - Ensembl - ENSG00000184634 - - - Genatlas - MED12 - - - HGNC - 11957 - - - OMIM - 300188 - - - Reactome - Q93074 - - - SwissProt - Q93074 - - - ClinVar - MED12 - - - - - Xq13.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 17704778[PMID]_19238151[PMID] - - UPF3B regulator of nonsense mediated mRNA decay - UPF3B - - HUPF3B - RENT3B - UPF3X - MRX82 - - - gene with protein product - - - - Ensembl - ENSG00000125351 - - - Genatlas - UPF3B - - - HGNC - 20439 - - - OMIM - 300298 - - - Reactome - Q9BZI7 - - - SwissProt - Q9BZI7 - - - ClinVar - UPF3B - - - - - Xq24 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 14598163[PMID] - - angiotensin II receptor type 2 - AGTR2 - - AT2 - MRX88 - - - gene with protein product - - - - Ensembl - ENSG00000180772 - - - Genatlas - AGTR2 - - - HGNC - 338 - - - IUPHAR - 35 - - - OMIM - 300034 - - - Reactome - P50052 - - - SwissProt - P50052 - - - ClinVar - AGTR2 - - - - - Xq23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15185169[PMID] - - discs large MAGUK scaffold protein 3 - DLG3 - - KIAA1232 - MRX90 - NE-Dlg - NEDLG - PPP1R82 - SAP-102 - SAP102 - neuroendocrine-dlg - protein phosphatase 1, regulatory subunit 82 - synapse associated protein 102 - - - gene with protein product - - - - Ensembl - ENSG00000082458 - - - Genatlas - DLG3 - - - HGNC - 2902 - - - ClinVar - DLG3 - - - OMIM - 300189 - - - Reactome - Q92796 - - - SwissProt - Q92796 - - - - - Xq13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16470793[PMID]_19012350[PMID] - - interleukin 1 receptor accessory protein like 1 - IL1RAPL1 - - Three immunoglobulin domain-containing IL-1 receptor-related 2 - IL1R8 - OPHN4 - TIGIRR-2 - IL1RAPL-1 - - - gene with protein product - - - - ClinVar - IL1RAPL1 - - - Reactome - Q9NZN1 - - - Ensembl - ENSG00000169306 - - - Genatlas - IL1RAPL1 - - - HGNC - 5996 - - - OMIM - 300206 - - - SwissProt - Q9NZN1 - - - - - Xp21.3-p21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 10655063[PMID]_12070254[PMID] - - tetraspanin 7 - TSPAN7 - - A15 - CD231 - DXS1692E - TALLA-1 - - - gene with protein product - - - - Reactome - P41732 - - - Ensembl - ENSG00000156298 - - - Genatlas - TSPAN7 - - - HGNC - 11854 - - - OMIM - 300096 - - - SwissProt - P41732 - - - ClinVar - TSPAN7 - - - - - Xp11.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11017088[PMID] - - Rac/Cdc42 guanine nucleotide exchange factor 6 - ARHGEF6 - - Cool-2 - Cool2 - KIAA0006 - PAK-interacting exchange factor, alpha - Rac/Cdc42 guanine exchange factor (GEF) 6 - alpha-PIX - alphaPIX - rho guanine nucleotide exchange factor 6 - αPix - aPix - - - gene with protein product - - - - ClinVar - ARHGEF6 - - - Ensembl - ENSG00000129675 - - - Genatlas - ARHGEF6 - - - HGNC - 685 - - - OMIM - 300267 - - - Reactome - Q15052 - - - SwissProt - Q15052 - - - - - Xq26.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15121780[PMID] - - zinc finger protein 81 - ZNF81 - - HFZ20 - - - gene with protein product - - - - ClinVar - ZNF81 - - - Ensembl - ENSG00000197779 - - - Genatlas - ZNF81 - - - HGNC - 13156 - - - OMIM - 314998 - - - SwissProt - P51508 - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19377476[PMID] - - synaptophysin - SYP - - MRX96 - - - gene with protein product - - - - Reactome - P08247 - - - Ensembl - ENSG00000102003 - - - Genatlas - SYP - - - HGNC - 11506 - - - OMIM - 313475 - - - SwissProt - P08247 - - - ClinVar - SYP - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19377476[PMID] - - zinc finger protein 711 - ZNF711 - - CMPX1 - MRX97 - ZNF4 - ZNF5 - Zfp711 - dJ75N13.1 - - - gene with protein product - - - - Ensembl - ENSG00000147180 - - - Genatlas - ZNF711 - - - HGNC - 13128 - - - OMIM - 314990 - - - Reactome - Q9Y462 - - - SwissProt - Q9Y462 - - - ClinVar - ZNF711 - - - - - Xq21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20159109[PMID] - - RAB39B, member RAS oncogene family - RAB39B - - - - gene with protein product - - - - Reactome - Q96DA2 - - - Genatlas - RAB39B - - - HGNC - 16499 - - - OMIM - 300774 - - - SwissProt - Q96DA2 - - - Ensembl - ENSG00000155961 - - - ClinVar - RAB39B - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23000143[PMID] - - host cell factor C1 - HCFC1 - - CFF - HCF-1 - HCF1 - MGC70925 - PPP1R89 - VCAF - VP16-accessory protein - protein phosphatase 1, regulatory subunit 89 - - - gene with protein product - - - - Ensembl - ENSG00000172534 - - - Genatlas - HCFC1 - - - HGNC - 4839 - - - OMIM - 300019 - - - Reactome - P51610 - - - SwissProt - P51610 - - - ClinVar - HCFC1 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24501762[PMID] - - ALG13 UDP-N-acetylglucosaminyltransferase subunit - ALG13 - - FLJ23018 - MDS031 - N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase - TDRD13 - YGL047W - tudor domain containing 13 - CDG1S - - - gene with protein product - - - - Ensembl - ENSG00000101901 - - - Genatlas - ALG13 - - - HGNC - 30881 - - - OMIM - 300776 - - - Reactome - Q9NP73 - - - SwissProt - Q9NP73 - - - ClinVar - ALG13 - - - - - Xq23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24115387[PMID] - - midline 2 - MID2 - - FXY2 - MRX101 - RNF60 - TRIM1 - - - gene with protein product - - - - ClinVar - MID2 - - - Ensembl - ENSG00000080561 - - - Genatlas - MID2 - - - HGNC - 7096 - - - OMIM - 300204 - - - SwissProt - Q9UJV3 - - - - - Xq22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20844286[PMID]_21091464[PMID] - - patched domain containing 1 - PTCHD1 - - SLC65C1 - FLJ30296 - - - gene with protein product - - - - ClinVar - PTCHD1 - - - SwissProt - Q96NR3 - - - Ensembl - ENSG00000165186 - - - Genatlas - PTCHD1 - - - HGNC - 26392 - - - OMIM - 300828 - - - - - Xp22.11 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 24607389[PMID] - - ubiquitin specific peptidase 9 X-linked - USP9X - - DFFRX - FAF - MRX99 - fat facets-like, X-linked - FAF-X - - - gene with protein product - - - - ClinVar - USP9X - - - Ensembl - ENSG00000124486 - - - Genatlas - USP9X - - - HGNC - 12632 - - - OMIM - 300072 - - - Reactome - Q93008 - - - SwissProt - Q93008 - - - - - Xp11.4 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 11889465[PMID] - - acyl-CoA synthetase long chain family member 4 - ACSL4 - - ACS4 - LACS4 - lignoceroyl-CoA synthase - long-chain fatty-acid-Coenzyme A ligase 4 - - - gene with protein product - - - - ClinVar - ACSL4 - - - Ensembl - ENSG00000068366 - - - Genatlas - ACSL4 - - - HGNC - 3571 - - - OMIM - 300157 - - - Reactome - O60488 - - - SwissProt - O60488 - - - - - Xq23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11309367[PMID] - - methyl-CpG binding protein 2 - MECP2 - - - - gene with protein product - - - - HGNC - 6990 - - - OMIM - 300005 - - - SwissProt - P51608 - - - Ensembl - ENSG00000169057 - - - Genatlas - MECP2 - - - ClinVar - MECP2 - - - Reactome - P51608 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20473311[PMID] - - IQ motif and Sec7 domain ArfGEF 2 - IQSEC2 - - brefeldin A resistant Arf-guanine nucleotide exchange factor 1 - KIAA0522 - BRAG1 - IQ-ArfGEF - - - gene with protein product - - - - Ensembl - ENSG00000124313 - - - Genatlas - IQSEC2 - - - HGNC - 29059 - - - OMIM - 300522 - - - SwissProt - Q5JU85 - - - ClinVar - IQSEC2 - - - - - Xp11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30335141[PMID] - - solute carrier family 9 member A7 - SLC9A7 - - NHE7 - NHE-7 - Sodium/hydrogen exchanger 7 - - - gene with protein product - - - - ClinVar - SLC9A7 - - - HGNC - 17123 - - - Ensembl - ENSG00000065923 - - - SwissProt - Q96T83 - - - OMIM - 300368 - - - Genatlas - SLC9A7 - - - Reactome - Q96T83 - - - IUPHAR - 954 - - - - - Xp11.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25644381[PMID] - - connector enhancer of kinase suppressor of Ras 2 - CNKSR2 - - CNK2 - KIAA0902 - KSR2 - - - gene with protein product - - - - HGNC - 19701 - - - OMIM - 300724 - - - Reactome - Q8WXI2 - - - SwissProt - Q8WXI2 - - - Ensembl - ENSG00000149970 - - - Genatlas - CNKSR2 - - - ClinVar - CNKSR2 - - - - - Xp22.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25644381[PMID] - - FERM and PDZ domain containing 4 - FRMPD4 - - KIAA0316 - - - gene with protein product - - - - ClinVar - FRMPD4 - - - HGNC - 29007 - - - OMIM - 300838 - - - Genatlas - FRMPD4 - - - SwissProt - Q14CM0 - - - Ensembl - ENSG00000169933 - - - - - Xp22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25644381[PMID] - - ubiquitin specific peptidase 27 X-linked - USP27X - - USP27 - - - gene with protein product - - - - ClinVar - USP27X - - - HGNC - 13486 - - - OMIM - 300975 - - - Genatlas - USP27X - - - SwissProt - A6NNY8 - - - Ensembl - ENSG00000273820 - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25644381[PMID] - - chloride voltage-gated channel 4 - CLCN4 - - ClC-4 - CLC4 - - - gene with protein product - - - - SwissProt - P51793 - - - HGNC - 2022 - - - OMIM - 302910 - - - Genatlas - CLCN4 - - - Reactome - P51793 - - - Ensembl - ENSG00000073464 - - - IUPHAR - 703 - - - ClinVar - CLCN4 - - - - - Xp22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=766 - Hemolytic anemia due to red cell pyruvate kinase deficiency - - Disease - - - Disorder - - - - 15953013[PMID]_16704447[PMID] - - pyruvate kinase L/R - PKLR - - - - gene with protein product - - - - IUPHAR - 3007 - - - ClinVar - PKLR - - - Ensembl - ENSG00000143627 - - - Genatlas - PKLR - - - HGNC - 9020 - - - OMIM - 609712 - - - Reactome - P30613 - - - SwissProt - P30613 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 206599 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206599 - Isolated asymptomatic elevation of creatine phosphokinase - - Biological anomaly - - - Disorder - - - - 31517061[PMID]_22402862[PMID] - - anoctamin 5 - ANO5 - - GDD1 - - - gene with protein product - - - - Ensembl - ENSG00000171714 - - - Genatlas - ANO5 - - - HGNC - 27337 - - - OMIM - 608662 - - - Reactome - Q75V66 - - - SwissProt - Q75V66 - - - ClinVar - ANO5 - - - - - 11p14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 38177406[PMID] - - dystroglycan 1 - DAG1 - - 156DAG - A3a - AGRNR - DAG - alpha-dystroglycan - beta-dystroglycan - dystrophin-associated glycoprotein-1 - - - gene with protein product - - - - Ensembl - ENSG00000173402 - - - Genatlas - DAG1 - - - HGNC - 2666 - - - OMIM - 128239 - - - Reactome - Q14118 - - - SwissProt - Q14118 - - - ClinVar - DAG1 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 10746614[PMID] - - caveolin 3 - CAV3 - - LGMD1C - LQT9 - M-caveolin - VIP-21 - VIP21 - - - gene with protein product - - - - Ensembl - ENSG00000182533 - - - Genatlas - CAV3 - - - HGNC - 1529 - - - OMIM - 601253 - - - Reactome - P56539 - - - SwissProt - P56539 - - - ClinVar - CAV3 - - - - - 3p25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3206 - Stüve-Wiedemann syndrome - - Malformation syndrome - - - Disorder - - - - 24618404[PMID] - - LIF receptor subunit alpha - LIFR - - CD118 - - - gene with protein product - - - - ClinVar - LIFR - - - Ensembl - ENSG00000113594 - - - Genatlas - LIFR - - - HGNC - 6597 - - - OMIM - 151443 - - - Reactome - P42702 - - - SwissProt - P42702 - - - IUPHAR - 1713 - - - - - 5p13.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 206583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206583 - Adult polyglucosan body disease - - Clinical subtype - - - Subtype of disorder - - - - 10762170[PMID] - - 1,4-alpha-glucan branching enzyme 1 - GBE1 - - Andersen disease - glycogen branching enzyme - glycogen storage disease type IV - - - gene with protein product - - - - ClinVar - GBE1 - - - OMIM - 607839 - - - Reactome - Q04446 - - - SwissProt - Q04446 - - - Ensembl - ENSG00000114480 - - - Genatlas - GBE1 - - - HGNC - 4180 - - - - - 3p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 65 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65 - Leber congenital amaurosis - - Disease - - - Disorder - - - - 30573563[PMID] - - ubiquitin specific peptidase 45 - USP45 - - MGC14793 - - - gene with protein product - - - - HGNC - 20080 - - - Ensembl - ENSG00000123552 - - - SwissProt - Q70EL2 - - - Reactome - Q70EL2 - - - OMIM - 618439 - - - - - 6q16.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35240325[PMID] - - tubulin beta 4B class IVb - TUBB4B - - Beta2 - class IVb beta-tubulin - - - gene with protein product - - - - HGNC - 20771 - - - Ensembl - ENSG00000188229 - - - SwissProt - P68371 - - - Reactome - P68371 - - - IUPHAR - 2641 - - - OMIM - 602660 - - - - - 9q34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19268277[PMID]_25685757[PMID]_20301475[PMID] - - spermatogenesis associated 7 - SPATA7 - - HSD3 - - - gene with protein product - - - - Ensembl - ENSG00000042317 - - - Genatlas - SPATA7 - - - HGNC - 20423 - - - OMIM - 609868 - - - SwissProt - Q9P0W8 - - - ClinVar - SPATA7 - - - - - 14q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23307924[PMID]_25685757[PMID] - - growth differentiation factor 6 - GDF6 - - BMP13 - KFS - KFS1 - - - gene with protein product - - - - ClinVar - GDF6 - - - Ensembl - ENSG00000156466 - - - Genatlas - GDF6 - - - HGNC - 4221 - - - OMIM - 601147 - - - SwissProt - Q6KF10 - - - - - 8q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26216056[PMID] - - intraflagellar transport 140 - IFT140 - - KIAA0590 - gs114 - - - gene with protein product - - - - Ensembl - ENSG00000187535 - - - Genatlas - IFT140 - - - HGNC - 29077 - - - OMIM - 614620 - - - Reactome - Q96RY7 - - - SwissProt - Q96RY7 - - - ClinVar - IFT140 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22842227[PMID]_25685757[PMID]_20301475[PMID] - - nicotinamide nucleotide adenylyltransferase 1 - NMNAT1 - - NMNAT - PNAT1 - nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 - - - gene with protein product - - - - ClinVar - NMNAT1 - - - Ensembl - ENSG00000173614 - - - Genatlas - NMNAT1 - - - HGNC - 17877 - - - OMIM - 608700 - - - Reactome - Q9HAN9 - - - SwissProt - Q9HAN9 - - - - - 1p36.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17186464[PMID]_25685757[PMID]_20301475[PMID] - - RD3 regulator of GUCY2D - RD3 - - LCA12 - - - gene with protein product - - - - ClinVar - RD3 - - - Ensembl - ENSG00000198570 - - - Genatlas - RD3 - - - HGNC - 19689 - - - OMIM - 180040 - - - SwissProt - Q7Z3Z2 - - - Reactome - Q7Z3Z2 - - - - - 1q32.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15322982[PMID]_25685757[PMID]_20301475[PMID] - - retinol dehydrogenase 12 - RDH12 - - FLJ30273 - LCA13 - RP53 - SDR7C2 - short chain dehydrogenase/reductase family 7C, member 2 - - - gene with protein product - - - - ClinVar - RDH12 - - - Ensembl - ENSG00000139988 - - - Genatlas - RDH12 - - - HGNC - 19977 - - - OMIM - 608830 - - - Reactome - Q96NR8 - - - SwissProt - Q96NR8 - - - - - 14q24.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25495949[PMID]_25685757[PMID]_20301475[PMID] - - retinoid isomerohydrolase RPE65 - RPE65 - - BCO family, member 3 - BCO3 - LCA2 - all-trans-retinyl-palmitate hydrolase - rd12 - retinol isomerase - - - gene with protein product - - - - Ensembl - ENSG00000116745 - - - Genatlas - RPE65 - - - HGNC - 10294 - - - OMIM - 180069 - - - Reactome - Q16518 - - - SwissProt - Q16518 - - - ClinVar - RPE65 - - - - - 1p31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11528500[PMID]_25685757[PMID]_20301475[PMID] - - RPGR interacting protein 1 - RPGRIP1 - - CORD13 - LCA6 - RGI1 - - - gene with protein product - - - - Reactome - Q96KN7 - - - Ensembl - ENSG00000092200 - - - Genatlas - RPGRIP1 - - - HGNC - 13436 - - - OMIM - 605446 - - - SwissProt - Q96KN7 - - - ClinVar - RPGRIP1 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25685757[PMID]_20301475[PMID] - - centrosomal protein 290 - CEP290 - - Bardet-Biedl syndrome 14 - cancer/testis antigen 87 - nephrocystin-6 - rd16 - 3H11Ag - BBS14 - CT87 - FLJ13615 - JBTS5 - Joubert syndrome 5 - KIAA0373 - LCA10 - MKS4 - Meckel syndrome, type 4 - NPHP6 - POC3 - POC3 centriolar protein homolog (Chlamydomonas) - SLSN6 - - - gene with protein product - - - - ClinVar - CEP290 - - - Ensembl - ENSG00000198707 - - - Genatlas - CEP290 - - - HGNC - 29021 - - - OMIM - 610142 - - - Reactome - O15078 - - - SwissProt - O15078 - - - - - 12q21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25685757[PMID]_20301475[PMID] - - AIP like 1 HSP90 co-chaperone - AIPL1 - - - - gene with protein product - - - - Ensembl - ENSG00000129221 - - - Genatlas - AIPL1 - - - HGNC - 359 - - - OMIM - 604392 - - - SwissProt - Q9NZN9 - - - Reactome - Q9NZN9 - - - ClinVar - AIPL1 - - - - - 17p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17962469[PMID]_25685757[PMID]_20301475[PMID] - - TUB like protein 1 - TULP1 - - LCA15 - TUBL1 - - - gene with protein product - - - - Reactome - O00294 - - - Ensembl - ENSG00000112041 - - - Genatlas - TULP1 - - - HGNC - 12423 - - - OMIM - 602280 - - - SwissProt - O00294 - - - ClinVar - TULP1 - - - - - 6p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25685757[PMID]_20301475[PMID] - - crumbs cell polarity complex component 1 - CRB1 - - LCA8 - - - gene with protein product - - - - Ensembl - ENSG00000134376 - - - Genatlas - CRB1 - - - HGNC - 2343 - - - OMIM - 604210 - - - SwissProt - P82279 - - - Reactome - P82279 - - - ClinVar - CRB1 - - - - - 1q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 9931337[PMID]_25685757[PMID]_20301475[PMID] - - cone-rod homeobox - CRX - - CRD - LCA7 - OTX3 - orthodenticle homeobox 3 - - - gene with protein product - - - - Reactome - O43186 - - - ClinVar - CRX - - - Ensembl - ENSG00000105392 - - - Genatlas - CRX - - - HGNC - 2383 - - - OMIM - 602225 - - - SwissProt - O43186 - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25685757[PMID]_20301475[PMID] - - guanylate cyclase 2D, retinal - GUCY2D - - ROS-GC - Leber congenital amaurosis 1 - CYGD - LCA1 - RETGC-1 - ROS-GC1 - retGC - retinal guanylate cyclase 1 - rod outer segment membrane guanylate cyclase - - - gene with protein product - - - - ClinVar - GUCY2D - - - Ensembl - ENSG00000132518 - - - Genatlas - GUCY2D - - - HGNC - 4689 - - - IUPHAR - 2031 - - - OMIM - 600179 - - - Reactome - Q02846 - - - SwissProt - Q02846 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 16384941[PMID]_25685757[PMID]_20301475[PMID] - - inosine monophosphate dehydrogenase 1 - IMPDH1 - - LCA11 - sWSS2608 - - - gene with protein product - - - - ClinVar - IMPDH1 - - - Ensembl - ENSG00000106348 - - - Genatlas - IMPDH1 - - - HGNC - 6052 - - - IUPHAR - 2624 - - - OMIM - 146690 - - - Reactome - P20839 - - - SwissProt - P20839 - - - - - 7q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20881296[PMID]_21901789[PMID] - - IQ motif containing B1 - IQCB1 - - KIAA0036 - NPHP5 - SLSN5 - nephrocystin-5 - - - gene with protein product - - - - ClinVar - IQCB1 - - - Ensembl - ENSG00000173226 - - - Genatlas - IQCB1 - - - HGNC - 28949 - - - OMIM - 609237 - - - Reactome - Q15051 - - - SwissProt - Q15051 - - - - - 3q13.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 17546029[PMID]_25685757[PMID]_20301475[PMID] - - lebercilin LCA5 - LCA5 - - - - gene with protein product - - - - Reactome - Q86VQ0 - - - ClinVar - LCA5 - - - SwissProt - Q86VQ0 - - - Ensembl - ENSG00000135338 - - - Genatlas - LCA5 - - - HGNC - 31923 - - - OMIM - 611408 - - - - - 6q14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21763485[PMID]_25685757[PMID]_20301475[PMID] - - potassium inwardly rectifying channel subfamily J member 13 - KCNJ13 - - Kir1.4 - Kir7.1 - LCA16 - - - gene with protein product - - - - Ensembl - ENSG00000115474 - - - Genatlas - KCNJ13 - - - HGNC - 6259 - - - IUPHAR - 443 - - - OMIM - 603208 - - - SwissProt - O60928 - - - ClinVar - KCNJ13 - - - - - 2q37.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17011878[PMID]_25685757[PMID]_20301475[PMID] - - lecithin retinol acyltransferase - LRAT - - LCA14 - phosphatidylcholine--retinol O-acyltransferase - - - gene with protein product - - - - ClinVar - LRAT - - - Ensembl - ENSG00000121207 - - - Genatlas - LRAT - - - HGNC - 6685 - - - OMIM - 604863 - - - Reactome - O95237 - - - SwissProt - O95237 - - - - - 4q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28272537[PMID] - - phosphate cytidylyltransferase 1A, choline - PCYT1A - - CT - CTPCT - CCTalpha - choline-phosphate cytidylyltransferase alpha - CTP:phosphocholine cytidylyltransferase-alpha - phosphorylcholine transferase alpha - - - gene with protein product - - - - Ensembl - ENSG00000161217 - - - Genatlas - PCYT1A - - - HGNC - 8754 - - - OMIM - 123695 - - - Reactome - P49585 - - - SwissProt - P49585 - - - ClinVar - PCYT1A - - - - - 3q29 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=321 - Multiple osteochondromas - - Disease - - - Disorder - - - - 20301413[PMID] - - exostosin glycosyltransferase 1 - EXT1 - - Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase - N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase - ttv - - - gene with protein product - - - - ClinVar - EXT1 - - - HGNC - 3512 - - - OMIM - 608177 - - - Reactome - Q16394 - - - SwissProt - Q16394 - - - Ensembl - ENSG00000182197 - - - Genatlas - EXT1 - - - - - 8q24.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301413[PMID] - - exostosin glycosyltransferase 2 - EXT2 - - Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase - N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase - SOTV - - - gene with protein product - - - - ClinVar - EXT2 - - - Ensembl - ENSG00000151348 - - - Genatlas - EXT2 - - - HGNC - 3513 - - - OMIM - 608210 - - - Reactome - Q93063 - - - SwissProt - Q93063 - - - - - 11p11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=144 - Lynch syndrome - - Disease - - - Disorder - - - - 25318681[PMID]_20301390[PMID] - - mutS homolog 6 - MSH6 - - MSH-6 - - - gene with protein product - - - - ClinVar - MSH6 - - - Ensembl - ENSG00000116062 - - - Genatlas - MSH6 - - - HGNC - 7329 - - - OMIM - 600678 - - - Reactome - P52701 - - - SwissProt - P52701 - - - - - 2p16.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19731079[PMID] - - KRAS proto-oncogene, GTPase - KRAS - - KRAS1 - K-Ras4B - - - gene with protein product - - - - IUPHAR - 2824 - - - ClinVar - KRAS - - - Ensembl - ENSG00000133703 - - - Genatlas - KRAS - - - HGNC - 6407 - - - OMIM - 190070 - - - Reactome - P01116 - - - SwissProt - P01116 - - - - - 12p12.1 - 1 - - - - - Biomarker tested in - - - Assessed - - - - - - PMS1 homolog 1, mismatch repair system component - PMS1 - - MLH2 - - - gene with protein product - - - - Ensembl - ENSG00000064933 - - - Genatlas - PMS1 - - - HGNC - 9121 - - - OMIM - 600258 - - - SwissProt - P54277 - - - ClinVar - PMS1 - - - - - 2q32.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - transforming growth factor beta receptor 2 - TGFBR2 - - TBRII - TBR-ii - - - gene with protein product - - - - ClinVar - TGFBR2 - - - Ensembl - ENSG00000163513 - - - Genatlas - TGFBR2 - - - HGNC - 11773 - - - IUPHAR - 1795 - - - OMIM - 190182 - - - Reactome - P37173 - - - SwissProt - P37173 - - - - - 3p24.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 22234272[PMID]_26076155[PMID]_20301390[PMID] - - mutS homolog 2 - MSH2 - - MSH-2 - HNPCC - HNPCC1 - DNA mismatch repair protein Msh2 - - - gene with protein product - - - - ClinVar - MSH2 - - - Ensembl - ENSG00000095002 - - - Genatlas - MSH2 - - - HGNC - 7325 - - - OMIM - 609309 - - - Reactome - P43246 - - - SwissProt - P43246 - - - - - 2p21-p16.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21769135[PMID]_23938213[PMID]_20301390[PMID] - - epithelial cell adhesion molecule - EPCAM - - BerEp4 - 17-1A - 323/A3 - CD326 - CO-17A - EGP-2 - EGP34 - EGP40 - ESA - Ep-CAM - GA733-2 - HEA125 - KS1/4 - KSA - Ly74 - MH99 - MK-1 - MOC31 - TACST-1 - TROP1 - trophoblast cell surface antigen 1 - Ber-Ep4 - MOC-31 - - - gene with protein product - - - - Reactome - P16422 - - - Ensembl - ENSG00000119888 - - - Genatlas - EPCAM - - - HGNC - 11529 - - - OMIM - 185535 - - - SwissProt - P16422 - - - ClinVar - EPCAM - - - - - 2p21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19731079[PMID] - - phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha - PIK3CA - - PI3K - - - gene with protein product - - - - Reactome - P42336 - - - SwissProt - P42336 - - - Ensembl - ENSG00000121879 - - - Genatlas - PIK3CA - - - HGNC - 8975 - - - IUPHAR - 2153 - - - OMIM - 171834 - - - ClinVar - PIK3CA - - - - - 3q26.32 - 1 - - - - - Biomarker tested in - - - Assessed - - - - 18602922[PMID]_20301390[PMID] - - PMS1 homolog 2, mismatch repair system component - PMS2 - - HNPCC4 - H_DJ0042M02.9 - MLH4 - PMS-2 - - - gene with protein product - - - - Ensembl - ENSG00000122512 - - - Genatlas - PMS2 - - - HGNC - 9122 - - - OMIM - 600259 - - - Reactome - P54278 - - - SwissProt - P54278 - - - ClinVar - PMS2 - - - - - 7p22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23100212[PMID]_26149658[PMID]_20301390[PMID] - - mutL homolog 1 - MLH1 - - MLH-1 - FCC2 - HNPCC - HNPCC2 - - - gene with protein product - - - - ClinVar - MLH1 - - - Ensembl - ENSG00000076242 - - - Genatlas - MLH1 - - - HGNC - 7127 - - - OMIM - 120436 - - - Reactome - P40692 - - - SwissProt - P40692 - - - - - 3p22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110 - Bardet-Biedl syndrome - - Disease - - - Disorder - - - - 20301537[PMID] - - Bardet-Biedl syndrome 1 - BBS1 - - FLJ23590 - - - gene with protein product - - - - ClinVar - BBS1 - - - Ensembl - ENSG00000174483 - - - Genatlas - BBS1 - - - HGNC - 966 - - - OMIM - 209901 - - - Reactome - Q8NFJ9 - - - SwissProt - Q8NFJ9 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23219996[PMID]_23403234[PMID]_20301537[PMID] - - Bardet-Biedl syndrome 10 - BBS10 - - FLJ23560 - - - gene with protein product - - - - ClinVar - BBS10 - - - Ensembl - ENSG00000179941 - - - Genatlas - BBS10 - - - HGNC - 26291 - - - OMIM - 610148 - - - Reactome - Q8TAM1 - - - SwissProt - Q8TAM1 - - - - - 12q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301537[PMID] - - Bardet-Biedl syndrome 2 - BBS2 - - - - gene with protein product - - - - ClinVar - BBS2 - - - Ensembl - ENSG00000125124 - - - Genatlas - BBS2 - - - HGNC - 967 - - - OMIM - 606151 - - - Reactome - Q9BXC9 - - - SwissProt - Q9BXC9 - - - - - 16q13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301537[PMID] - - Bardet-Biedl syndrome 4 - BBS4 - - - - gene with protein product - - - - ClinVar - BBS4 - - - Ensembl - ENSG00000140463 - - - Genatlas - BBS4 - - - HGNC - 969 - - - OMIM - 600374 - - - Reactome - Q96RK4 - - - SwissProt - Q96RK4 - - - - - 15q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301537[PMID] - - Bardet-Biedl syndrome 5 - BBS5 - - DKFZp762I194 - - - gene with protein product - - - - ClinVar - BBS5 - - - OMIM - 603650 - - - Reactome - Q8N3I7 - - - SwissProt - Q8N3I7 - - - Ensembl - ENSG00000163093 - - - Genatlas - BBS5 - - - HGNC - 970 - - - - - 2q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301537[PMID] - - Bardet-Biedl syndrome 7 - BBS7 - - BBS2L1 - FLJ10715 - - - gene with protein product - - - - ClinVar - BBS7 - - - Ensembl - ENSG00000138686 - - - Genatlas - BBS7 - - - HGNC - 18758 - - - OMIM - 607590 - - - Reactome - Q8IWZ6 - - - SwissProt - Q8IWZ6 - - - - - 4q27 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301537[PMID] - - Bardet-Biedl syndrome 9 - BBS9 - - B1 - PTHB1 - parathyroid hormone responsive B1 gene - - - gene with protein product - - - - ClinVar - BBS9 - - - Ensembl - ENSG00000122507 - - - Genatlas - BBS9 - - - HGNC - 30000 - - - OMIM - 607968 - - - Reactome - Q3SYG4 - - - SwissProt - Q3SYG4 - - - - - 7p14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301537[PMID] - - centrosomal protein 290 - CEP290 - - Bardet-Biedl syndrome 14 - cancer/testis antigen 87 - nephrocystin-6 - rd16 - 3H11Ag - BBS14 - CT87 - FLJ13615 - JBTS5 - Joubert syndrome 5 - KIAA0373 - LCA10 - MKS4 - Meckel syndrome, type 4 - NPHP6 - POC3 - POC3 centriolar protein homolog (Chlamydomonas) - SLSN6 - - - gene with protein product - - - - ClinVar - CEP290 - - - Ensembl - ENSG00000198707 - - - Genatlas - CEP290 - - - HGNC - 29021 - - - OMIM - 610142 - - - Reactome - O15078 - - - SwissProt - O15078 - - - - - 12q21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301537[PMID] - - tripartite motif containing 32 - TRIM32 - - BBS11 - HT2A - TATIP - - - gene with protein product - - - - Ensembl - ENSG00000119401 - - - Genatlas - TRIM32 - - - HGNC - 16380 - - - OMIM - 602290 - - - Reactome - Q13049 - - - SwissProt - Q13049 - - - ClinVar - TRIM32 - - - - - 9q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301537[PMID] - - tetratricopeptide repeat domain 8 - TTC8 - - BBS8 - RP51 - - - gene with protein product - - - - Ensembl - ENSG00000165533 - - - Genatlas - TTC8 - - - HGNC - 20087 - - - ClinVar - TTC8 - - - OMIM - 608132 - - - Reactome - Q8TAM2 - - - SwissProt - Q8TAM2 - - - - - 14q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301537[PMID] - - ARF like GTPase 6 - ARL6 - - RP55 - - - gene with protein product - - - - ClinVar - ARL6 - - - Ensembl - ENSG00000113966 - - - Genatlas - ARL6 - - - HGNC - 13210 - - - OMIM - 608845 - - - Reactome - Q9H0F7 - - - SwissProt - Q9H0F7 - - - - - 3q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301537[PMID] - - MKKS centrosomal shuttling protein - MKKS - - - - gene with protein product - - - - Ensembl - ENSG00000125863 - - - Genatlas - MKKS - - - HGNC - 7108 - - - OMIM - 604896 - - - Reactome - Q9NPJ1 - - - SwissProt - Q9NPJ1 - - - ClinVar - MKKS - - - - - 20p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18327255[PMID]_20301537[PMID] - - MKS transition zone complex subunit 1 - MKS1 - - BBS13 - FLJ20345 - POC12 - POC12 centriolar protein homolog (Chlamydomonas) - - - gene with protein product - - - - Ensembl - ENSG00000011143 - - - ClinVar - MKS1 - - - Genatlas - MKS1 - - - HGNC - 7121 - - - OMIM - 609883 - - - Reactome - Q9NXB0 - - - SwissProt - Q9NXB0 - - - - - 17q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24746959[PMID] - - nephrocystin 1 - NPHP1 - - JBTS4 - SLSN1 - - - gene with protein product - - - - ClinVar - NPHP1 - - - Ensembl - ENSG00000144061 - - - Genatlas - NPHP1 - - - HGNC - 7905 - - - OMIM - 607100 - - - Reactome - O15259 - - - SwissProt - O15259 - - - - - 2q13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301537[PMID] - - Bardet-Biedl syndrome 12 - BBS12 - - FLJ35630 - FLJ41559 - - - gene with protein product - - - - ClinVar - BBS12 - - - Ensembl - ENSG00000181004 - - - Genatlas - BBS12 - - - HGNC - 26648 - - - OMIM - 610683 - - - Reactome - Q6ZW61 - - - SwissProt - Q6ZW61 - - - - - 4q27 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20835237[PMID]_20301537[PMID] - - SHH signaling and ciliogenesis regulator SDCCAG8 - SDCCAG8 - - BBS16 - CCCAP - NPHP10 - NY-CO-8 - SLSN7 - nephrocystin 10 - Senior-Loken syndrome 7 - centrosomal colon cancer autoantigen protein - Bardet-Biedl syndrome 16 - - - gene with protein product - - - - HGNC - 10671 - - - OMIM - 613524 - - - Reactome - Q86SQ7 - - - SwissProt - Q86SQ7 - - - Ensembl - ENSG00000054282 - - - Genatlas - SDCCAG8 - - - ClinVar - SDCCAG8 - - - - - 1q43-q44 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301537[PMID] - - WD repeat containing planar cell polarity effector - WDPCP - - BBS15 - fritz - hFrtz - CPLANE5 - ciliogenesis and planar polarity effector complex subunit 5 - - - gene with protein product - - - - Ensembl - ENSG00000143951 - - - Genatlas - WDPCP - - - HGNC - 28027 - - - OMIM - 613580 - - - SwissProt - O95876 - - - ClinVar - WDPCP - - - - - 2p15 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22510444[PMID]_20301537[PMID] - - leucine zipper transcription factor like 1 - LZTFL1 - - BBS17 - - - gene with protein product - - - - ClinVar - LZTFL1 - - - Ensembl - ENSG00000163818 - - - Genatlas - LZTFL1 - - - HGNC - 6741 - - - OMIM - 606568 - - - Reactome - Q9NQ48 - - - SwissProt - Q9NQ48 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25168386[PMID] - - intraflagellar transport 172 - IFT172 - - NPHP17 - SLB - osm-1 - wim - wimple homolog - BBS20 - - - gene with protein product - - - - OMIM - 607386 - - - Reactome - Q9UG01 - - - SwissProt - Q9UG01 - - - ClinVar - IFT172 - - - Ensembl - ENSG00000138002 - - - Genatlas - IFT172 - - - HGNC - 30391 - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24026985[PMID]_20301537[PMID] - - BBSome interacting protein 1 - BBIP1 - - BBIP10 - BBS18 - bA348N5.3 - - - gene with protein product - - - - Ensembl - ENSG00000214413 - - - HGNC - 28093 - - - OMIM - 613605 - - - Reactome - A8MTZ0 - - - SwissProt - A8MTZ0 - - - - - 10q25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24488770[PMID] - - intraflagellar transport 27 - IFT27 - - CFAP156 - BBS19 - RAYL - FAP156 - - - gene with protein product - - - - ClinVar - RABL4 - - - Ensembl - ENSG00000100360 - - - Genatlas - RABL4 - - - HGNC - 18626 - - - OMIM - 615870 - - - Reactome - Q9BW83 - - - SwissProt - Q9BW83 - - - - - 22q12.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 27486776[PMID] - - intraflagellar transport 74 - IFT74 - - capillary morphogenesis protein 1 - CMG1 - CMG-1 - FLJ22621 - - - gene with protein product - - - - HGNC - 21424 - - - Reactome - Q96LB3 - - - Genatlas - IFT74 - - - Ensembl - ENSG00000096872 - - - ClinVar - IFT74 - - - OMIM - 608040 - - - SwissProt - Q96LB3 - - - - - 9p21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 29127258[PMID] - - centrosomal protein 19 - CEP19 - - MGC14126 - - - gene with protein product - - - - Reactome - Q96LK0 - - - Ensembl - ENSG00000174007 - - - Genatlas - CEP19 - - - HGNC - 28209 - - - OMIM - 615586 - - - SwissProt - Q96LK0 - - - ClinVar - CEP19 - - - - - 3q29 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 30723319[PMID] - - S-phase cyclin A associated protein in the ER - SCAPER - - Zfp291 - - - gene with protein product - - - - HGNC - 13081 - - - Ensembl - ENSG00000140386 - - - SwissProt - Q9BY12 - - - OMIM - 611611 - - - Genatlas - SCAPER - - - ClinVar - SCAPER - - - - - 15q24.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 27008867[PMID] - - cilia and flagella associated protein 418 - CFAP418 - - Bardet-Biedl syndrome 21 - CORD16 - FLJ30600 - RP64 - cone-rod dystrophy 16 - BBS21 - MOT25. - MOT25 - FAP418 - SMALLTALK - - - gene with protein product - - - - Ensembl - ENSG00000156172 - - - Genatlas - C8orf37 - - - HGNC - 27232 - - - OMIM - 614477 - - - SwissProt - Q96NL8 - - - ClinVar - C8orf37 - - - - - 8q22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 32253632[PMID] - - sodium channel and clathrin linker 1 - SCLT1 - - hCAP-1A - FLJ30655 - - - gene with protein product - - - - OMIM - 611399 - - - Genatlas - SCLT1 - - - Ensembl - ENSG00000151466 - - - Reactome - Q96NL6 - - - ClinVar - SCLT1 - - - HGNC - 26406 - - - SwissProt - Q96NL6 - - - - - 4q28.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3095 - Atypical Rett syndrome - - Disease - - - Disorder - - - - 20301670[PMID] - - methyl-CpG binding protein 2 - MECP2 - - - - gene with protein product - - - - HGNC - 6990 - - - OMIM - 300005 - - - SwissProt - P51608 - - - Ensembl - ENSG00000169057 - - - Genatlas - MECP2 - - - ClinVar - MECP2 - - - Reactome - P51608 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17903671[PMID] - - netrin G1 - NTNG1 - - KIAA0976 - Lmnt1 - Netrin-G1 - netrin G1f - NetrinG1 - NetG1 - laminet-1 - - - gene with protein product - - - - Reactome - Q9Y2I2 - - - ClinVar - NTNG1 - - - Ensembl - ENSG00000162631 - - - Genatlas - NTNG1 - - - HGNC - 23319 - - - OMIM - 608818 - - - SwissProt - Q9Y2I2 - - - - - 1p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22196487[PMID]_22787626[PMID] - - cyclin dependent kinase like 5 - CDKL5 - - CFAP247 - EIEE2 - - - gene with protein product - - - - Reactome - O76039 - - - SwissProt - O76039 - - - Ensembl - ENSG00000008086 - - - Genatlas - CDKL5 - - - HGNC - 11411 - - - IUPHAR - 1986 - - - OMIM - 300203 - - - ClinVar - CDKL5 - - - - - Xp22.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32222533[PMID] - - structural maintenance of chromosomes 1A - SMC1A - - DXS423E - KIAA0178 - SB1.8 - Smcb - - - gene with protein product - - - - ClinVar - SMC1A - - - Ensembl - ENSG00000072501 - - - Genatlas - SMC1A - - - HGNC - 11111 - - - OMIM - 300040 - - - Reactome - Q14683 - - - SwissProt - Q14683 - - - - - Xp11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28856709[PMID] - - gamma-aminobutyric acid type B receptor subunit 2 - GABBR2 - - HG20 - GPRC3B - GABABR2 - - - gene with protein product - - - - HGNC - 4507 - - - Reactome - O75899 - - - SwissProt - O75899 - - - ClinVar - GABBR2 - - - OMIM - 607340 - - - IUPHAR - 241 - - - Ensembl - ENSG00000136928 - - - Genatlas - GABBR2 - - - - - 9q22.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1114 - Aplasia cutis congenita - - Malformation syndrome - - - Disorder - - - - 31184804[PMID] - - plectin - PLEC - - PCN - PLTN - - - gene with protein product - - - - Ensembl - ENSG00000178209 - - - Genatlas - PLEC - - - HGNC - 9069 - - - OMIM - 601282 - - - Reactome - Q15149 - - - SwissProt - Q15149 - - - ClinVar - PLEC - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31184804[PMID] - - integrin subunit beta 4 - ITGB4 - - CD104 - - - gene with protein product - - - - ClinVar - ITGB4 - - - Ensembl - ENSG00000132470 - - - Genatlas - ITGB4 - - - HGNC - 6158 - - - OMIM - 147557 - - - Reactome - P16144 - - - SwissProt - P16144 - - - IUPHAR - 2458 - - - - - 17q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23785305[PMID] - - BMS1 ribosome biogenesis factor - BMS1 - - KIAA0187 - - - gene with protein product - - - - Reactome - Q14692 - - - ClinVar - BMS1 - - - Ensembl - ENSG00000165733 - - - Genatlas - BMS1 - - - HGNC - 23505 - - - OMIM - 611448 - - - SwissProt - Q14692 - - - - - 10q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26299364[PMID] - - delta like canonical Notch ligand 4 - DLL4 - - - - gene with protein product - - - - Ensembl - ENSG00000128917 - - - Genatlas - DLL4 - - - HGNC - 2910 - - - OMIM - 605185 - - - Reactome - Q9NR61 - - - SwissProt - Q9NR61 - - - ClinVar - DLL4 - - - - - 15q15.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 32758660[PMID] - - ubiquitin like modifier activating enzyme 2 - UBA2 - - FLJ13058 - UBA2, ubiquitin-activating enzyme E1 homolog (yeast) - HRIHFB2115 - - - gene with protein product - - - - OMIM - 613295 - - - SwissProt - Q9UBT2 - - - Ensembl - ENSG00000126261 - - - HGNC - 30661 - - - - - 19q13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1272 - Aymé-Gripp syndrome - - Malformation syndrome - - - Disorder - - - - 25865493[PMID]_8867660[PMID]_8834052[PMID] - - MAF bZIP transcription factor - MAF - - c-MAF - - - gene with protein product - - - - ClinVar - MAF - - - Ensembl - ENSG00000178573 - - - Genatlas - MAF - - - HGNC - 6776 - - - OMIM - 177075 - - - SwissProt - O75444 - - - - - 16q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 208513 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208513 - Spinocerebellar ataxia type 29 - - Disease - - - Disorder - - - - 22986007[PMID] - - inositol 1,4,5-trisphosphate receptor type 1 - ITPR1 - - ACV - IP3R1 - Insp3r1 - PPP1R94 - protein phosphatase 1, regulatory subunit 94 - - - gene with protein product - - - - Ensembl - ENSG00000150995 - - - Genatlas - ITPR1 - - - HGNC - 6180 - - - OMIM - 147265 - - - Reactome - Q14643 - - - SwissProt - Q14643 - - - ClinVar - ITPR1 - - - IUPHAR - 743 - - - - - 3p26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 208447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208447 - Bilateral generalized polymicrogyria - - Clinical subtype - - - Subtype of disorder - - - - 29365063[PMID] - - glutamate ionotropic receptor NMDA type subunit 1 - GRIN1 - - GluN1 - NR1 - - - gene with protein product - - - - Ensembl - ENSG00000176884 - - - Genatlas - GRIN1 - - - HGNC - 4584 - - - IUPHAR - 455 - - - OMIM - 138249 - - - Reactome - Q05586 - - - SwissProt - Q05586 - - - ClinVar - GRIN1 - - - - - 9q34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3051 - Nicolaides-Baraitser syndrome - - Malformation syndrome - - - Disorder - - - - 22366787[PMID] - - SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 - SMARCA2 - - brahma homolog - BAF190 - BRM - SNF2 - SNF2LA - SWI2 - Sth1p - hBRM - hSNF2a - - - gene with protein product - - - - Ensembl - ENSG00000080503 - - - Genatlas - SMARCA2 - - - HGNC - 11098 - - - IUPHAR - 2739 - - - OMIM - 600014 - - - Reactome - P51531 - - - SwissProt - P51531 - - - ClinVar - SMARCA2 - - - - - 9p24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 208441 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208441 - Bilateral parasagittal parieto-occipital polymicrogyria - - Clinical subtype - - - Subtype of disorder - - - - 24598713[PMID] - - FIG4 phosphoinositide 5-phosphatase - FIG4 - - ALS11 - CMT4J - SAC3 - dJ249I4.1 - hSac3 - - - gene with protein product - - - - ClinVar - FIG4 - - - Ensembl - ENSG00000112367 - - - Genatlas - FIG4 - - - HGNC - 16873 - - - OMIM - 609390 - - - Reactome - Q92562 - - - SwissProt - Q92562 - - - - - 6q21 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2963 - Progeroid syndrome, Petty type - - Clinical subtype - - - Subtype of disorder - - - - 29100094[PMID] - - solute carrier family 25 member 24 - SLC25A24 - - ATP-Mg/P(i) co-transporter 1 - small calcium-binding mitochondrial carrier protein 1 - SCAMC1 - APC1 - DKFZp586G0123 - Calcium-binding mitochondrial carrier protein SCaMC-1 - SCAMC-1 - - - gene with protein product - - - - ClinVar - SLC25A24 - - - Ensembl - ENSG00000085491 - - - OMIM - 608744 - - - Genatlas - SLC25A24 - - - IUPHAR - 1077 - - - HGNC - 20662 - - - SwissProt - Q6NUK1 - - - - - 1p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1541 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1541 - Craniosynostosis, Boston type - - Malformation syndrome - - - Disorder - - - - 23918290[PMID]_23949913[PMID] - - msh homeobox 2 - MSX2 - - CRS2 - FPP - HOX8 - MSH - PFM - craniosynostosis, type 2 - - - gene with protein product - - - - Reactome - P35548 - - - ClinVar - MSX2 - - - Ensembl - ENSG00000120149 - - - Genatlas - MSX2 - - - HGNC - 7392 - - - OMIM - 123101 - - - SwissProt - P35548 - - - - - 5q35.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1415 - Hardikar syndrome - - Malformation syndrome - - - Disorder - - - - 33244166[PMID]_35385210[PMID] - - mediator complex subunit 12 - MED12 - - CAGH45 - HOPA - KIAA0192 - OKS - OPA1 - TRAP230 - ARC240 - Kto - Kohtalo homolog - - - gene with protein product - - - - Ensembl - ENSG00000184634 - - - Genatlas - MED12 - - - HGNC - 11957 - - - OMIM - 300188 - - - Reactome - Q93074 - - - SwissProt - Q93074 - - - ClinVar - MED12 - - - - - Xq13.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2151 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2151 - Hirschsprung disease-ganglioneuroblastoma syndrome - - Malformation syndrome - - - Disorder - - - - 15024693[PMID]_26011159[PMID]_28371199[PMID] - - paired like homeobox 2B - PHOX2B - - NBPhox - Phox2b - - - gene with protein product - - - - ClinVar - PHOX2B - - - Genatlas - PHOX2B - - - HGNC - 9143 - - - OMIM - 603851 - - - SwissProt - Q99453 - - - Ensembl - ENSG00000109132 - - - - - 4p13 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 209335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209335 - Autosomal dominant adult-onset proximal spinal muscular atrophy - - Disease - - - Disorder - - - - 15372378[PMID]_24212516[PMID] - - VAMP associated protein B and C - VAPB - - ALS8 - VAP-B - VAP-C - - - gene with protein product - - - - ClinVar - VAPB - - - Ensembl - ENSG00000124164 - - - Genatlas - VAPB - - - HGNC - 12649 - - - OMIM - 605704 - - - Reactome - O95292 - - - SwissProt - O95292 - - - - - 20q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 209341 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209341 - DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy - - Etiological subtype - - - Subtype of disorder - - - - 22459677[PMID] - - dynein cytoplasmic 1 heavy chain 1 - DYNC1H1 - - CMT2O - DHC1 - Dnchc1 - HL-3 - p22 - - - gene with protein product - - - - Ensembl - ENSG00000197102 - - - Genatlas - DYNC1H1 - - - HGNC - 2961 - - - OMIM - 600112 - - - Reactome - Q14204 - - - SwissProt - Q14204 - - - ClinVar - DYNC1H1 - - - - - 14q32.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 210110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210110 - Intermediate osteopetrosis - - Malformation syndrome - - - Disorder - - - - 24535816[PMID]_25829125[PMID] - - T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 - TCIRG1 - - ATP6N1C - ATP6V0A3 - Atp6i - OC-116 - OC116 - T-cell immune response cDNA 7 - TIRC7 - a3 - V-ATPase subunit a3 - - - gene with protein product - - - - Ensembl - ENSG00000110719 - - - Genatlas - TCIRG1 - - - HGNC - 11647 - - - OMIM - 604592 - - - Reactome - Q13488 - - - SwissProt - Q13488 - - - ClinVar - TCIRG1 - - - IUPHAR - 825 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12522560[PMID]_20301306[PMID] - - chloride voltage-gated channel 7 - CLCN7 - - CLC-7 - CLC7 - OPTA2 - PPP1R63 - protein phosphatase 1, regulatory subunit 63 - ClC-7 - - - gene with protein product - - - - OMIM - 602727 - - - Reactome - P51798 - - - SwissProt - P51798 - - - Ensembl - ENSG00000103249 - - - Genatlas - CLCN7 - - - HGNC - 2025 - - - IUPHAR - 706 - - - ClinVar - CLCN7 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17404618[PMID] - - pleckstrin homology and RUN domain containing M1 - PLEKHM1 - - KIAA0356 - - - gene with protein product - - - - Ensembl - ENSG00000225190 - - - Genatlas - PLEKHM1 - - - HGNC - 29017 - - - OMIM - 611466 - - - SwissProt - Q9Y4G2 - - - ClinVar - PLEKHM1 - - - - - 17q21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 210115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210115 - Sterile multifocal osteomyelitis with periostitis and pustulosis - - Disease - - - Disorder - - - - 19494218[PMID] - - interleukin 1 receptor antagonist - IL1RN - - ICIL-1RA - IL-1RN - IL1F3 - IL1RA - IRAP - MGC10430 - interleukin-1 receptor antagonist protein - intracellular interleukin-1 receptor antagonist - - - gene with protein product - - - - Ensembl - ENSG00000136689 - - - Genatlas - IL1RN - - - HGNC - 6000 - - - OMIM - 147679 - - - Reactome - P18510 - - - SwissProt - P18510 - - - ClinVar - IL1RN - - - - - 2q14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 209981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209981 - IRIDA syndrome - - Disease - - - Disorder - - - - 19357398[PMID]_20232450[PMID]_25252070[PMID] - - transmembrane serine protease 6 - TMPRSS6 - - FLJ30744 - MT2 - matriptase-2 - - - gene with protein product - - - - Ensembl - ENSG00000187045 - - - Genatlas - TMPRSS6 - - - HGNC - 16517 - - - IUPHAR - 2422 - - - OMIM - 609862 - - - SwissProt - Q8IU80 - - - Reactome - Q8IU80 - - - ClinVar - TMPRSS6 - - - - - 22q12.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 210122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210122 - Congenital alveolar capillary dysplasia - - Disease - - - Disorder - - - - 19500772[PMID]_23505205[PMID] - - forkhead box F1 - FOXF1 - - FREAC1 - - - gene with protein product - - - - Ensembl - ENSG00000103241 - - - Genatlas - FOXF1 - - - HGNC - 3809 - - - OMIM - 601089 - - - SwissProt - Q12946 - - - ClinVar - FOXF1 - - - - - 16q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 210128 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210128 - Urocanic aciduria - - Disease - - - Disorder - - - - 19304569[PMID] - - urocanate hydratase 1 - UROC1 - - FLJ31300 - HMFN0320 - urocanase 1 - - - gene with protein product - - - - ClinVar - UROC1 - - - HGNC - 26444 - - - OMIM - 613012 - - - Reactome - Q96N76 - - - SwissProt - Q96N76 - - - Ensembl - ENSG00000159650 - - - Genatlas - UROC1 - - - - - 3q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2254 - Pontocerebellar hypoplasia type 1 - - Malformation syndrome - - - Disorder - - - - 30976113[PMID] - - ATP/GTP binding carboxypeptidase 1 - AGTPBP1 - - KIAA1035 - Nna1 - CCP1 - cytosolic carboxypeptidase 1 - tubulinyl-Tyr carboxypeptidase - carboxypeptidase-tubulin - tyrosine carboxypeptidase - soluble carboxypeptidase - - - gene with protein product - - - - HGNC - 17258 - - - Ensembl - ENSG00000135049 - - - SwissProt - Q9UPW5 - - - Reactome - Q9UPW5 - - - OMIM - 606830 - - - - - 9q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19646678[PMID] - - VRK serine/threonine kinase 1 - VRK1 - - - - gene with protein product - - - - Ensembl - ENSG00000100749 - - - Genatlas - VRK1 - - - HGNC - 12718 - - - IUPHAR - 2275 - - - OMIM - 602168 - - - Reactome - Q99986 - - - SwissProt - Q99986 - - - ClinVar - VRK1 - - - - - 14q32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22544365[PMID]_25144110[PMID] - - exosome component 3 - EXOSC3 - - CGI-102 - CGI-102 protein - Exosome component Rrp40 - RRP40 - Rrp40p - hRrp-40 - hRrp40p - p10 - exosome component Rrp40 - - - gene with protein product - - - - Ensembl - ENSG00000107371 - - - Genatlas - EXOSC3 - - - HGNC - 17944 - - - OMIM - 606489 - - - Reactome - Q9NQT5 - - - SwissProt - Q9NQT5 - - - ClinVar - EXOSC3 - - - - - 9p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24989451[PMID] - - exosome component 8 - EXOSC8 - - CBP-interacting protein 3 - CIP3 - EAP2 - OIP2 - Opa interacting protein 2 - RRP43 - Rrp43p - bA421P11.3 - p9 - - - gene with protein product - - - - ClinVar - EXOSC8 - - - Reactome - Q96B26 - - - SwissProt - Q96B26 - - - Ensembl - ENSG00000120699 - - - Genatlas - EXOSC8 - - - HGNC - 17035 - - - OMIM - 606019 - - - - - 13q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28637197[PMID] - - solute carrier family 25 member 46 - SLC25A46 - - Mitochondrial outer membrane protein - - - gene with protein product - - - - Reactome - Q96AG3 - - - HGNC - 25198 - - - IUPHAR - 1096 - - - OMIM - 610826 - - - SwissProt - Q96AG3 - - - Ensembl - ENSG00000164209 - - - Genatlas - SLC25A46 - - - ClinVar - SLC25A46 - - - - - 5q22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 29727687[PMID] - - exosome component 9 - EXOSC9 - - p5 - p6 - PM/Scl-75 - polymyositis/scleroderma autoantigen 1 (75kD) - RRP45 - Rrp45p - - - gene with protein product - - - - HGNC - 9137 - - - Ensembl - ENSG00000123737 - - - SwissProt - Q06265 - - - OMIM - 606180 - - - Genatlas - EXOSC9 - - - Reactome - Q06265 - - - ClinVar - EXOSC9 - - - - - 4q27 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 209951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209951 - Autosomal spastic paraplegia type 18 - - Disease - - - Disorder - - - - 21330303[PMID] - - ER lipid raft associated 2 - ERLIN2 - - Erlin-2 - NET32 - - - gene with protein product - - - - Reactome - O94905 - - - ClinVar - ERLIN2 - - - Ensembl - ENSG00000147475 - - - Genatlas - ERLIN2 - - - HGNC - 1356 - - - OMIM - 611605 - - - SwissProt - O94905 - - - - - 8p11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 209967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209967 - Episodic ataxia type 6 - - Disease - - - Disorder - - - - 19139306[PMID] - - solute carrier family 1 member 3 - SLC1A3 - - excitatory amino acid transporter 1 - glutamate/aspartate transporter 1 - GLAST-1 - GLAST1 - EA6 - EAAT1 - GLAST - - - gene with protein product - - - - ClinVar - SLC1A3 - - - Reactome - P43003 - - - SwissProt - P43003 - - - IUPHAR - 868 - - - Ensembl - ENSG00000079215 - - - Genatlas - SLC1A3 - - - HGNC - 10941 - - - OMIM - 600111 - - - - - 5p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 209908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209908 - Isolated childhood apraxia of speech - - Disease - - - Disorder - - - - 11586359[PMID]_15877281[PMID] - - forkhead box P2 - FOXP2 - - CAG repeat protein 44 - CAGH44 - forkhead/winged-helix transcription factor - speech and language disorder 1 - trinucleotide repeat containing 10 - - - gene with protein product - - - - ClinVar - FOXP2 - - - Ensembl - ENSG00000128573 - - - Genatlas - FOXP2 - - - HGNC - 13875 - - - OMIM - 605317 - - - SwissProt - O15409 - - - Reactome - O15409 - - - - - 7q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 209905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209905 - Brain-lung-thyroid syndrome - - Disease - - - Disorder - - - - 24129101[PMID]_24555207[PMID] - - NK2 homeobox 1 - NKX2-1 - - TTF-1 - TTF1 - - - gene with protein product - - - - ClinVar - NKX2-1 - - - Reactome - P43699 - - - Ensembl - ENSG00000136352 - - - Genatlas - NKX2-1 - - - HGNC - 11825 - - - OMIM - 600635 - - - SwissProt - P43699 - - - - - 14q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 209902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209902 - Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency - - Disease - - - Disorder - - - - 12093894[PMID] - - cytochrome P450 family 7 subfamily A member 1 - CYP7A1 - - cholesterol 7 alpha-monooxygenase - cholesterol 7a-hydroxylase - cholesterol 7α-hydroxylase - - - gene with protein product - - - - ClinVar - CYP7A1 - - - IUPHAR - 1354 - - - Ensembl - ENSG00000167910 - - - Genatlas - CYP7A1 - - - HGNC - 2651 - - - OMIM - 118455 - - - Reactome - P22680 - - - SwissProt - P22680 - - - - - 8q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 209932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209932 - Cone dystrophy with supernormal rod response - - Disease - - - Disorder - - - - 16909397[PMID]_18235024[PMID]_18400204[PMID] - - potassium voltage-gated channel modifier subfamily V member 2 - KCNV2 - - Kv8.2 - - - gene with protein product - - - - ClinVar - KCNV2 - - - Ensembl - ENSG00000168263 - - - Genatlas - KCNV2 - - - HGNC - 19698 - - - IUPHAR - 566 - - - OMIM - 607604 - - - Reactome - Q8TDN2 - - - SwissProt - Q8TDN2 - - - - - 9p24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 209916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209916 - Extraskeletal myxoid chondrosarcoma - - Disease - - - Disorder - - - - 22581839[PMID] - - trafficking from ER to golgi regulator - TFG - - FLJ36137 - SPG57 - TF6 - - - gene with protein product - - - - ClinVar - TFG - - - Ensembl - ENSG00000114354 - - - Genatlas - TFG - - - HGNC - 11758 - - - OMIM - 602498 - - - Reactome - Q92734 - - - SwissProt - Q92734 - - - - - 3q12.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 18855877[PMID] - - EWS RNA binding protein 1 - EWSR1 - - EWS - - - gene with protein product - - - - Reactome - Q01844 - - - Ensembl - ENSG00000182944 - - - Genatlas - EWSR1 - - - HGNC - 3508 - - - OMIM - 133450 - - - SwissProt - Q01844 - - - ClinVar - EWSR1 - - - - - 22q12.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 11156374[PMID] - - transcription factor 12 - TCF12 - - p64 - HEB - HTF4 - Helix-loop-helix transcription factor 4 - HsT17266 - bHLHb20 - helix-loop-helix transcription factor 4 - - - gene with protein product - - - - ClinVar - TCF12 - - - Ensembl - ENSG00000140262 - - - Genatlas - TCF12 - - - HGNC - 11623 - - - OMIM - 600480 - - - Reactome - Q99081 - - - SwissProt - Q99081 - - - - - 15q21.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 18855877[PMID] - - nuclear receptor subfamily 4 group A member 3 - NR4A3 - - CHN - CSMF - MINOR - NOR1 - - - gene with protein product - - - - Ensembl - ENSG00000119508 - - - Genatlas - NR4A3 - - - HGNC - 7982 - - - IUPHAR - 631 - - - OMIM - 600542 - - - Reactome - Q92570 - - - SwissProt - Q92570 - - - ClinVar - NR4A3 - - - - - 9q31.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 18330903[PMID] - - TATA-box binding protein associated factor 15 - TAF15 - - Npl3 - RBP56 - hTAFII68 - - - gene with protein product - - - - Genatlas - TAF15 - - - HGNC - 11547 - - - OMIM - 601574 - - - SwissProt - Q92804 - - - Ensembl - ENSG00000270647 - - - Reactome - Q92804 - - - ClinVar - TAF15 - - - - - 17q12 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 209370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209370 - MECP2-related severe neonatal encephalopathy - - Disease - - - Disorder - - - - 18477000[PMID]_20301670[PMID] - - methyl-CpG binding protein 2 - MECP2 - - - - gene with protein product - - - - HGNC - 6990 - - - OMIM - 300005 - - - SwissProt - P51608 - - - Ensembl - ENSG00000169057 - - - Genatlas - MECP2 - - - ClinVar - MECP2 - - - Reactome - P51608 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 209867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209867 - Autosomal dominant rhegmatogenous retinal detachment - - Disease - - - Disorder - - - - 15671297[PMID] - - collagen type II alpha 1 chain - COL2A1 - - STL1 - - - gene with protein product - - - - ClinVar - COL2A1 - - - Ensembl - ENSG00000139219 - - - Genatlas - COL2A1 - - - HGNC - 2200 - - - OMIM - 120140 - - - Reactome - P02458 - - - SwissProt - P02458 - - - - - 12q13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 210571 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210571 - Dystonia 16 - - Disease - - - Disorder - - - - 18243799[PMID] - - protein activator of interferon induced protein kinase EIF2AK2 - PRKRA - - DYT16 - HSD14 - PACT - RAX - protein activator of the interferon-induced protein kinase - PKR-associated protein X - - - gene with protein product - - - - Ensembl - ENSG00000180228 - - - Genatlas - PRKRA - - - HGNC - 9438 - - - OMIM - 603424 - - - Reactome - O75569 - - - SwissProt - O75569 - - - ClinVar - PRKRA - - - - - 2q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3286 - Catecholaminergic polymorphic ventricular tachycardia - - Disease - - - Disorder - - - - 20301466[PMID] - - calsequestrin 2 - CASQ2 - - PDIB2 - - - gene with protein product - - - - SwissProt - O14958 - - - Ensembl - ENSG00000118729 - - - Genatlas - CASQ2 - - - HGNC - 1513 - - - OMIM - 114251 - - - Reactome - O14958 - - - ClinVar - CASQ2 - - - - - 1p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22422768[PMID]_20301466[PMID] - - triadin - TRDN - - triadin in skeletal muscle - TRISK - - - gene with protein product - - - - Ensembl - ENSG00000186439 - - - Genatlas - TRDN - - - HGNC - 12261 - - - OMIM - 603283 - - - Reactome - Q13061 - - - SwissProt - Q13061 - - - ClinVar - TRDN - - - - - 6q22.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301466[PMID] - - ryanodine receptor 2 - RYR2 - - ARVC2 - VTSIP - - - gene with protein product - - - - IUPHAR - 748 - - - ClinVar - RYR2 - - - Ensembl - ENSG00000198626 - - - Genatlas - RYR2 - - - HGNC - 10484 - - - OMIM - 180902 - - - Reactome - Q92736 - - - SwissProt - Q92736 - - - - - 1q43 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23040497[PMID]_20301466[PMID] - - calmodulin 1 - CALM1 - - CAMI - DD132 - PHKD - prepro-calmodulin 1 - phosphorylase kinase subunit delta - PHKD1 - phosphorylase kinase subunit delta 1 - - - gene with protein product - - - - Ensembl - ENSG00000198668 - - - Genatlas - CALM1 - - - HGNC - 1442 - - - OMIM - 114180 - - - Reactome - P62158 - - - SwissProt - P0DP23 - - - ClinVar - CALM1 - - - - - 14q32.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24917665[PMID] - - calmodulin 2 - CALM2 - - CAMII - PHKD - prepro-calmodulin 2 - PHKD2 - phosphorylase kinase subunit delta 2 - phosphorylase kinase subunit delta - - - gene with protein product - - - - Ensembl - ENSG00000143933 - - - Genatlas - CALM2 - - - HGNC - 1445 - - - OMIM - 114182 - - - SwissProt - P0DP24 - - - ClinVar - CALM2 - - - - - 2p21 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - calmodulin 3 - CALM3 - - phosphorylase kinase subunit delta - phosphorylase kinase subunit delta 3 - PHKD - prepro-calmodulin 3 - PHKD3 - - - gene with protein product - - - - Ensembl - ENSG00000160014 - - - Genatlas - CALM3 - - - HGNC - 1449 - - - OMIM - 114183 - - - SwissProt - P0DP25 - - - ClinVar - CALM3 - - - - - 19q13.32 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 27861123[PMID] - - trans-2,3-enoyl-CoA reductase like - TECRL - - DKFZp313B2333 - DKFZp313D0829 - glycoprotein, synaptic 2-like - GPSN2L - SRD5A2L2 - TERL - - - gene with protein product - - - - HGNC - 27365 - - - OMIM - 617242 - - - SwissProt - Q5HYJ1 - - - Reactome - Q5HYJ1 - - - Ensembl - ENSG00000205678 - - - - - 4q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 210548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210548 - Macrocephaly-intellectual disability-autism syndrome - - Disease - - - Disorder - - - - 15805158[PMID]_17286265[PMID]_19265751[PMID] - - phosphatase and tensin homolog - PTEN - - MMAC1 - PTEN1 - TEP1 - mutated in multiple advanced cancers 1 - Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN - - - gene with protein product - - - - IUPHAR - 2497 - - - ClinVar - PTEN - - - HGNC - 9588 - - - OMIM - 601728 - - - Reactome - P60484 - - - SwissProt - P60484 - - - Ensembl - ENSG00000171862 - - - Genatlas - PTEN - - - - - 10q23.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21419380[PMID] - - hepatic and glial cell adhesion molecule - HEPACAM - - FLJ25530 - GLIALCAM - glial cell adhesion molecule - hepaCAM - - - gene with protein product - - - - Ensembl - ENSG00000165478 - - - Genatlas - HEPACAM - - - HGNC - 26361 - - - OMIM - 611642 - - - SwissProt - Q14CZ8 - - - ClinVar - HEPACAM - - - - - 11q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 210159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210159 - Adult hepatocellular carcinoma - - Disease - - - Disorder - - - - 10700176[PMID] - - axin 1 - AXIN1 - - protein phosphatase 1, regulatory subunit 49 - PPP1R49 - - - gene with protein product - - - - ClinVar - AXIN1 - - - Ensembl - ENSG00000103126 - - - OMIM - 603816 - - - HGNC - 903 - - - Genatlas - AXIN1 - - - SwissProt - O15169 - - - Reactome - O15169 - - - - - 16p13.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 15608678[PMID] - - phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha - PIK3CA - - PI3K - - - gene with protein product - - - - Reactome - P42336 - - - SwissProt - P42336 - - - Ensembl - ENSG00000121879 - - - Genatlas - PIK3CA - - - HGNC - 8975 - - - IUPHAR - 2153 - - - OMIM - 171834 - - - ClinVar - PIK3CA - - - - - 3q26.32 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 15531912[PMID] - - caspase 8 - CASP8 - - Casp-8 - FLICE - MACH - MCH5 - - - gene with protein product - - - - Ensembl - ENSG00000064012 - - - Genatlas - CASP8 - - - HGNC - 1509 - - - IUPHAR - 1624 - - - OMIM - 601763 - - - Reactome - Q14790 - - - SwissProt - Q14790 - - - ClinVar - CASP8 - - - - - 2q33.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 8191284[PMID] - - tumor protein p53 - TP53 - - LFS1 - Li-Fraumeni syndrome - P53 - p53 - - - gene with protein product - - - - Ensembl - ENSG00000141510 - - - Genatlas - TP53 - - - HGNC - 11998 - - - OMIM - 191170 - - - Reactome - P04637 - - - SwissProt - P04637 - - - ClinVar - TP53 - - - - - 17p13.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 7898930[PMID]_12653892[PMID] - - platelet derived growth factor receptor like - PDGFRL - - PRLTS - - - gene with protein product - - - - Ensembl - ENSG00000104213 - - - OMIM - 604584 - - - HGNC - 8805 - - - Genatlas - PDGFRL - - - SwissProt - Q15198 - - - ClinVar - PDGFRL - - - - - 8p22 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 10435629[PMID] - - catenin beta 1 - CTNNB1 - - armadillo - beta-catenin - - - gene with protein product - - - - ClinVar - CTNNB1 - - - Ensembl - ENSG00000168036 - - - Genatlas - CTNNB1 - - - HGNC - 2514 - - - OMIM - 116806 - - - Reactome - P35222 - - - SwissProt - P35222 - - - - - 3p22.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 27974549[PMID] - - TSC complex subunit 2 - TSC2 - - LAM - PPP1R160 - protein phosphatase 1, regulatory subunit 160 - tuberin - - - gene with protein product - - - - OMIM - 191092 - - - Reactome - P49815 - - - SwissProt - P49815 - - - ClinVar - TSC2 - - - Ensembl - ENSG00000103197 - - - Genatlas - TSC2 - - - HGNC - 12363 - - - - - 16p13.3 - 1 - - - - - Candidate gene tested in - - - Assessed - - - - 27974549[PMID] - - TSC complex subunit 1 - TSC1 - - KIAA0243 - LAM - hamartin - - - gene with protein product - - - - ClinVar - TSC1 - - - Ensembl - ENSG00000165699 - - - Genatlas - TSC1 - - - HGNC - 12362 - - - OMIM - 605284 - - - Reactome - Q92574 - - - SwissProt - Q92574 - - - - - 9q34.13 - 1 - - - - - Candidate gene tested in - - - Assessed - - - - 21440548[PMID] - - epidermal growth factor - EGF - - Pro-epidermal growth factor - - - gene with protein product - - - - ClinVar - EGF - - - Ensembl - ENSG00000138798 - - - Genatlas - EGF - - - HGNC - 3229 - - - OMIM - 131530 - - - Reactome - P01133 - - - SwissProt - P01133 - - - - - 4q25 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 210163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210163 - Congenital lethal myopathy, Compton-North type - - Disease - - - Disorder - - - - 19026398[PMID] - - contactin 1 - CNTN1 - - F3 - GP135 - glycoprotein gP135 - - - gene with protein product - - - - Ensembl - ENSG00000018236 - - - Genatlas - CNTN1 - - - HGNC - 2171 - - - OMIM - 600016 - - - Reactome - Q12860 - - - SwissProt - Q12860 - - - ClinVar - CNTN1 - - - - - 12q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3240 - Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome - - Disease - - - Disorder - - - - 28887846[PMID] - - lysyl-tRNA synthetase 1 - KARS1 - - KARS1 - KARS2 - lysine tRNA ligase - - - gene with protein product - - - - ClinVar - KARS - - - Ensembl - ENSG00000065427 - - - Genatlas - KARS - - - HGNC - 6215 - - - OMIM - 601421 - - - Reactome - Q15046 - - - SwissProt - Q15046 - - - - - 16q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 210141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210141 - Inherited congenital spastic tetraplegia - - Disease - - - Disorder - - - - 16301218[PMID] - - KN motif and ankyrin repeat domains 1 - KANK1 - - Kidney ankyrin repeat-containing protein - KANK - KIAA0172 - - - gene with protein product - - - - Ensembl - ENSG00000107104 - - - Genatlas - KANK1 - - - HGNC - 19309 - - - OMIM - 607704 - - - SwissProt - Q14678 - - - ClinVar - KANK1 - - - Reactome - Q14678 - - - - - 9p24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15571623[PMID] - - glutamate decarboxylase 1 - GAD1 - - - - gene with protein product - - - - Ensembl - ENSG00000128683 - - - Genatlas - GAD1 - - - HGNC - 4092 - - - OMIM - 605363 - - - Reactome - Q99259 - - - SwissProt - Q99259 - - - ClinVar - GAD1 - - - IUPHAR - 1272 - - - - - 2q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23836506[PMID] - - adducin 3 - ADD3 - - gamma-adducin - - - gene with protein product - - - - ClinVar - ADD3 - - - Ensembl - ENSG00000148700 - - - Genatlas - ADD3 - - - HGNC - 245 - - - OMIM - 601568 - - - Reactome - Q9UEY8 - - - SwissProt - Q9UEY8 - - - - - 10q25.1-q25.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 210144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210144 - Lethal polymalformative syndrome, Boissel type - - Malformation syndrome - - - Disorder - - - - 19559399[PMID] - - FTO alpha-ketoglutarate dependent dioxygenase - FTO - - ALKBH9 - AlkB homolog 9 - KIAA1752 - MGC5149 - alpha-ketoglutarate-dependent dioxygenase - alkB homolog 9 - intragenic FTO exon 9 containing transcript - IFEX9 - - - gene with protein product - - - - ClinVar - FTO - - - Reactome - Q9C0B1 - - - Ensembl - ENSG00000140718 - - - Genatlas - FTO - - - HGNC - 24678 - - - OMIM - 610966 - - - SwissProt - Q9C0B1 - - - - - 16q12.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 1063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1063 - Tufted angioma - - Disease - - - Disorder - - - - 27476652[PMID] - - G protein subunit alpha 14 - GNA14 - - - - gene with protein product - - - - HGNC - 4382 - - - OMIM - 604397 - - - Genatlas - GNA14 - - - SwissProt - O95837 - - - Reactome - O95837 - - - Ensembl - ENSG00000156049 - - - ClinVar - GNA14 - - - - - 9q21.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 211067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211067 - Episodic ataxia type 5 - - Disease - - - Disorder - - - - 10762541[PMID] - - calcium voltage-gated channel auxiliary subunit beta 4 - CACNB4 - - EJM4 - - - gene with protein product - - - - HGNC - 1404 - - - OMIM - 601949 - - - Reactome - O00305 - - - SwissProt - O00305 - - - Ensembl - ENSG00000182389 - - - Genatlas - CACNB4 - - - ClinVar - CACNB4 - - - - - 2q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 211017 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211017 - Spinocerebellar ataxia type 30 - - Disease - - - Disorder - - - - 18996908[PMID] - - spinocerebellar ataxia 30 - SCA30 - - - - Disorder-associated locus - - - - OMIM - - - - SwissProt - - - - Ensembl - - - - HGNC - 33445 - - - - - 4q34.3-q35.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 656 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656 - Hereditary steroid-resistant nephrotic syndrome - - Disease - - - Disorder - - - - 29773874{PMID] - - membrane associated guanylate kinase, WW and PDZ domain containing 2 - MAGI2 - - AIP1 - ARIP1 - MAGI-2 - KIAA0705 - ACVRIP1 - activin receptor-interacting protein 1 - - - gene with protein product - - - - Genatlas - MAGI2 - - - HGNC - 18957 - - - Reactome - Q86UL8 - - - ClinVar - MAGI2 - - - OMIM - 606382 - - - SwissProt - Q86UL8 - - - Ensembl - ENSG00000187391 - - - - - 7q21.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29058690[PMID] - - advillin - AVIL - - DOC6 - FLJ12386 - p92 - ADVIL - - - gene with protein product - - - - Ensembl - ENSG00000135407 - - - HGNC - 14188 - - - OMIM - 613397 - - - SwissProt - O75366 - - - - - 12q14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33232676[PMID] - - dishevelled associated activator of morphogenesis 2 - DAAM2 - - KIAA0381 - NPHS24 - - - gene with protein product - - - - SwissProt - Q86T65 - - - Ensembl - ENSG00000146122 - - - OMIM - 606627 - - - HGNC - 18143 - - - - - 6p21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25961457[PMID] - - KN motif and ankyrin repeat domains 2 - KANK2 - - KIAA1518 - SIP - steroid receptor coactivator interacting protein - - - gene with protein product - - - - Reactome - Q63ZY3 - - - ClinVar - KANK2 - - - Ensembl - ENSG00000197256 - - - Genatlas - KANK2 - - - HGNC - 29300 - - - OMIM - 614610 - - - SwissProt - Q63ZY3 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29534211[PMID] - - laminin subunit alpha 5 - LAMA5 - - laminin alpha5-chain - - - gene with protein product - - - - HGNC - 6485 - - - ClinVar - LAMA5 - - - Reactome - O15230 - - - SwissProt - O15230 - - - OMIM - 601033 - - - Genatlas - LAMA5 - - - Ensembl - ENSG00000130702 - - - - - 20q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 10700177[PMID] - - actinin alpha 4 - ACTN4 - - - - gene with protein product - - - - ClinVar - ACTN4 - - - Ensembl - ENSG00000130402 - - - Genatlas - ACTN4 - - - HGNC - 166 - - - OMIM - 604638 - - - Reactome - O43707 - - - SwissProt - O43707 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15879175[PMID]_15924139[PMID] - - transient receptor potential cation channel subfamily C member 6 - TRPC6 - - TRP6 - - - gene with protein product - - - - ClinVar - TRPC6 - - - Ensembl - ENSG00000137672 - - - Genatlas - TRPC6 - - - HGNC - 12338 - - - IUPHAR - 491 - - - OMIM - 603652 - - - Reactome - Q9Y210 - - - SwissProt - Q9Y210 - - - - - 11q22.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 20150449[PMID] - - WT1 transcription factor - WT1 - - AWT1 - NPHS4 - WAGR - WIT-2 - WT-1 - - - gene with protein product - - - - ClinVar - WT1 - - - Ensembl - ENSG00000184937 - - - Genatlas - WT1 - - - HGNC - 12796 - - - OMIM - 607102 - - - SwissProt - P19544 - - - Reactome - P19544 - - - - - 11p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25407002[PMID] - - collagen type IV alpha 3 chain - COL4A3 - - tumstatin - - - gene with protein product - - - - ClinVar - COL4A3 - - - Ensembl - ENSG00000169031 - - - Genatlas - COL4A3 - - - HGNC - 2204 - - - OMIM - 120070 - - - Reactome - Q01955 - - - SwissProt - Q01955 - - - - - 2q36.3 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 11854170[PMID]_19812541[PMID]_18614772[PMID] - - NPHS1 adhesion molecule, nephrin - NPHS1 - - CNF - NPHN - - - gene with protein product - - - - ClinVar - NPHS1 - - - Ensembl - ENSG00000161270 - - - Genatlas - NPHS1 - - - HGNC - 7908 - - - OMIM - 602716 - - - Reactome - O60500 - - - SwissProt - O60500 - - - - - 19q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11805166[PMID] - - NPHS2 stomatin family member, podocin - NPHS2 - - PDCN - SRN1 - - - gene with protein product - - - - ClinVar - NPHS2 - - - Ensembl - ENSG00000116218 - - - Genatlas - NPHS2 - - - HGNC - 13394 - - - OMIM - 604766 - - - Reactome - Q9NP85 - - - SwissProt - Q9NP85 - - - - - 1q25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24676634[PMID] - - paired box 2 - PAX2 - - PAX-2 - - - gene with protein product - - - - Ensembl - ENSG00000075891 - - - Genatlas - PAX2 - - - HGNC - 8616 - - - OMIM - 167409 - - - SwissProt - Q02962 - - - ClinVar - PAX2 - - - - - 10q24.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20591883[PMID] - - phospholipase C epsilon 1 - PLCE1 - - KIAA1516 - NPHS3 - Nephrosis type 3 - PLCE - phosphoinositide phospholipase C - nephrosis type 3 - - - gene with protein product - - - - ClinVar - PLCE1 - - - IUPHAR - 1412 - - - Ensembl - ENSG00000138193 - - - Genatlas - PLCE1 - - - HGNC - 17175 - - - OMIM - 608414 - - - Reactome - Q9P212 - - - SwissProt - Q9P212 - - - - - 10q23.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20023659[PMID] - - inverted formin, FH2 and WH2 domain containing - INF2 - - MGC13251 - inverted formin 2 - - - gene with protein product - - - - Ensembl - ENSG00000203485 - - - Genatlas - INF2 - - - HGNC - 23791 - - - OMIM - 610982 - - - SwissProt - Q27J81 - - - ClinVar - INF2 - - - - - 14q32.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17713465[PMID] - - CD2 associated protein - CD2AP - - Cas ligand with multiple Src homology (SH) 3 domains - CMS - - - gene with protein product - - - - HGNC - 14258 - - - OMIM - 604241 - - - Reactome - Q9Y5K6 - - - SwissProt - Q9Y5K6 - - - ClinVar - CD2AP - - - Ensembl - ENSG00000198087 - - - Genatlas - CD2AP - - - - - 6p12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21756023[PMID] - - myosin IE - MYO1E - - HuncM-IC - MGC104638 - MYO1C - myosin-IC - - - gene with protein product - - - - Reactome - Q12965 - - - ClinVar - MYO1E - - - SwissProt - Q12965 - - - Ensembl - ENSG00000157483 - - - Genatlas - MYO1E - - - HGNC - 7599 - - - OMIM - 601479 - - - - - 15q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21722858[PMID] - - protein tyrosine phosphatase receptor type O - PTPRO - - GLEPP1 - NPHS6 - PTP-U2 - PTP-oc - PTPU2 - osteoclastic transmembrane protein-tyrosine phosphatase - - - gene with protein product - - - - Reactome - Q16827 - - - ClinVar - PTPRO - - - Ensembl - ENSG00000151490 - - - Genatlas - PTPRO - - - HGNC - 9678 - - - OMIM - 600579 - - - SwissProt - Q16827 - - - IUPHAR - 1863 - - - - - 12p12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21911940[PMID] - - Rho GTPase activating protein 24 - ARHGAP24 - - DKFZP564B1162 - FLJ33877 - FilGAP - - - gene with protein product - - - - Ensembl - ENSG00000138639 - - - Genatlas - ARHGAP24 - - - HGNC - 25361 - - - OMIM - 610586 - - - Reactome - Q8N264 - - - SwissProt - Q8N264 - - - ClinVar - ARHGAP24 - - - - - 4q21.23-q21.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24270420[PMID] - - coenzyme Q8B - COQ8B - - COQ8 - FLJ12229 - - - gene with protein product - - - - ClinVar - ADCK4 - - - Ensembl - ENSG00000123815 - - - Genatlas - ADCK4 - - - HGNC - 19041 - - - IUPHAR - 1928 - - - OMIM - 615567 - - - SwissProt - Q96D53 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24676636[PMID] - - anillin, actin binding protein - ANLN - - ANILLIN - Scraps - scra - - - gene with protein product - - - - Ensembl - ENSG00000011426 - - - Genatlas - ANLN - - - HGNC - 14082 - - - OMIM - 616027 - - - SwissProt - Q9NQW6 - - - ClinVar - ANLN - - - - - 7p14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25557779[PMID] - - crumbs cell polarity complex component 2 - CRB2 - - FLJ16786 - FLJ38464 - - - gene with protein product - - - - Ensembl - ENSG00000148204 - - - Genatlas - CRB2 - - - HGNC - 18688 - - - OMIM - 609720 - - - SwissProt - Q5IJ48 - - - ClinVar - CRB2 - - - - - 9q33.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 26411495[PMID] - - nucleoporin 107 - NUP107 - - NUP84 - nuclear pore complex protein Nup107 - - - gene with protein product - - - - Ensembl - ENSG00000111581 - - - Genatlas - NUP107 - - - HGNC - 29914 - - - OMIM - 607617 - - - Reactome - P57740 - - - SwissProt - P57740 - - - ClinVar - NUP107 - - - - - 12q15 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26878725[PMID] - - nucleoporin 93 - NUP93 - - KIAA0095 - nuclear pore complex protein Nup93 - - - gene with protein product - - - - HGNC - 28958 - - - OMIM - 614351 - - - Genatlas - NUP93 - - - SwissProt - Q8N1F7 - - - Reactome - Q8N1F7 - - - Ensembl - ENSG00000102900 - - - ClinVar - NUP93 - - - - - 16q13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 26878725[PMID] - - nucleoporin 205 - NUP205 - - KIAA0225 - nuclear pore complex protein Nup205 - - - gene with protein product - - - - SwissProt - Q92621 - - - Reactome - Q92621 - - - Ensembl - ENSG00000155561 - - - HGNC - 18658 - - - OMIM - 614352 - - - Genatlas - NUP205 - - - ClinVar - NUP205 - - - - - 7q33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29959197[PMID] - - GTPase activating protein and VPS9 domains 1 - GAPVD1 - - DKFZP434C212 - KIAA1521 - - - gene with protein product - - - - HGNC - 23375 - - - Ensembl - ENSG00000165219 - - - SwissProt - Q14C86 - - - OMIM - 611714 - - - Genatlas - GAPVD1 - - - Reactome - Q14C86 - - - ClinVar - GAPVD1 - - - - - 9q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30179222[PMID] - - nucleoporin 85 - NUP85 - - NUP75 - FLJ12549 - - - gene with protein product - - - - HGNC - 8734 - - - OMIM - 170285 - - - Ensembl - ENSG00000125450 - - - SwissProt - Q9BW27 - - - Reactome - Q9BW27 - - - - - 17q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30179222[PMID] - - nucleoporin 37 - NUP37 - - MGC5585 - FLJ22618 - - - gene with protein product - - - - HGNC - 29929 - - - Ensembl - ENSG00000075188 - - - SwissProt - Q8NFH4 - - - Reactome - Q8NFH4 - - - OMIM - 609264 - - - - - 12q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30179222[PMID] - - nucleoporin 160 - NUP160 - - Nuclear pore complex protein Nup160 - KIAA0197 - FLJ22583 - - - gene with protein product - - - - HGNC - 18017 - - - Ensembl - ENSG00000030066 - - - Reactome - Q12769 - - - OMIM - 607614 - - - SwissProt - Q12769 - - - - - 11p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30179222[PMID] - - nucleoporin 133 - NUP133 - - FLJ10814 - - - gene with protein product - - - - Ensembl - ENSG00000069248 - - - SwissProt - Q8WUM0 - - - Reactome - Q8WUM0 - - - OMIM - 607613 - - - HGNC - 18016 - - - - - 1q42.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30661770[PMID] - - TBC1 domain family member 8B - TBC1D8B - - FLJ20298 - RP11-321G1.1 - GRAMD8B - - - gene with protein product - - - - HGNC - 24715 - - - Ensembl - ENSG00000133138 - - - SwissProt - Q0IIM8 - - - Reactome - Q0IIM8 - - - OMIM - 301027 - - - - - Xq22.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 29959197[PMID] - - ankyrin repeat and FYVE domain containing 1 - ANKFY1 - - ANKHZN - BTBD23 - KIAA1255 - rabankyrin-5 - RANK-5 - ZFYVE14 - - - gene with protein product - - - - HGNC - 20763 - - - Ensembl - ENSG00000185722 - - - SwissProt - Q9P2R3 - - - OMIM - 607927 - - - Genatlas - ANKFY1 - - - Reactome - Q9P2R3 - - - ClinVar - ANKFY1 - - - - - 17p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24814193[PMID] - - epithelial membrane protein 2 - EMP2 - - XMP - - - gene with protein product - - - - Ensembl - ENSG00000213853 - - - Genatlas - EMP2 - - - HGNC - 3334 - - - OMIM - 602334 - - - SwissProt - P54851 - - - ClinVar - EMP2 - - - - - 16p13.13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23434736[PMID] - - Rho GDP dissociation inhibitor alpha - ARHGDIA - - RHOGDI - - - gene with protein product - - - - ClinVar - ARHGDIA - - - HGNC - 678 - - - OMIM - 601925 - - - Reactome - P52565 - - - SwissProt - P52565 - - - Ensembl - ENSG00000141522 - - - Genatlas - ARHGDIA - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20668430[PMID]_26901816[PMID] - - apolipoprotein L1 - APOL1 - - - - gene with protein product - - - - ClinVar - APOL1 - - - HGNC - 618 - - - OMIM - 603743 - - - Reactome - O14791 - - - SwissProt - O14791 - - - Ensembl - ENSG00000100342 - - - Genatlas - APOL1 - - - - - 22q12.3 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - 2122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2122 - Kaposiform hemangioendothelioma - - Disease - - - Disorder - - - - 27476652[PMID] - - G protein subunit alpha 14 - GNA14 - - - - gene with protein product - - - - HGNC - 4382 - - - OMIM - 604397 - - - Genatlas - GNA14 - - - SwissProt - O95837 - - - Reactome - O95837 - - - Ensembl - ENSG00000156049 - - - ClinVar - GNA14 - - - - - 9q21.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 2591 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2591 - Infantile myofibromatosis - - Disease - - - Disorder - - - - 23731542[PMID] - - notch receptor 3 - NOTCH3 - - CASIL - - - gene with protein product - - - - Ensembl - ENSG00000074181 - - - Genatlas - NOTCH3 - - - HGNC - 7883 - - - OMIM - 600276 - - - Reactome - Q9UM47 - - - SwissProt - Q9UM47 - - - ClinVar - NOTCH3 - - - IUPHAR - 2860 - - - - - 19p13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23731537[PMID]_23731542[PMID] - - platelet derived growth factor receptor beta - PDGFRB - - CD140b - JTK12 - PDGFR1 - - - gene with protein product - - - - ClinVar - PDGFRB - - - Ensembl - ENSG00000113721 - - - Genatlas - PDGFRB - - - HGNC - 8804 - - - IUPHAR - 1804 - - - OMIM - 173410 - - - Reactome - P09619 - - - SwissProt - P09619 - - - - - 5q32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 35 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35 - Propionic acidemia - - Disease - - - Disorder - - - - 22593918[PMID] - - propionyl-CoA carboxylase subunit alpha - PCCA - - - - gene with protein product - - - - IUPHAR - 1266 - - - Ensembl - ENSG00000175198 - - - Genatlas - PCCA - - - HGNC - 8653 - - - OMIM - 232000 - - - Reactome - P05165 - - - SwissProt - P05165 - - - ClinVar - PCCA - - - - - 13q32.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22593918[PMID] - - propionyl-CoA carboxylase subunit beta - PCCB - - - - gene with protein product - - - - Ensembl - ENSG00000114054 - - - Genatlas - PCCB - - - HGNC - 8654 - - - OMIM - 232050 - - - Reactome - P05166 - - - SwissProt - P05166 - - - IUPHAR - 1267 - - - ClinVar - PCCB - - - - - 3q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=663 - Mitochondrial DNA-related progressive external ophthalmoplegia - - Disease - - - Disorder - - - - 23696415[PMID] - - mitochondrially encoded tRNA-Ser (UCN) 1 - MT-TS1 - - TRNS1 - - - Non-coding RNA - - - - Ensembl - ENSG00000210151 - - - Genatlas - MT-TS1 - - - HGNC - 7497 - - - OMIM - 590080 - - - ClinVar - MT-TS1 - - - SwissProt - - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23696415[PMID] - - mitochondrially encoded tRNA-Leu (CUN) 2 - MT-TL2 - - TRNL2 - - - Non-coding RNA - - - - SwissProt - - - - ClinVar - MT-TL2 - - - Ensembl - ENSG00000210191 - - - Genatlas - MT-TL2 - - - HGNC - 7491 - - - OMIM - 590055 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23696415[PMID] - - mitochondrially encoded tRNA-Asn (AAU/C) - MT-TN - - trnN - - - Non-coding RNA - - - - Ensembl - ENSG00000210135 - - - Genatlas - MT-TN - - - HGNC - 7493 - - - OMIM - 590010 - - - ClinVar - MT-TN - - - SwissProt - - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - mitochondrially encoded tRNA-Leu (UUA/G) 1 - MT-TL1 - - TRNL1 - - - Non-coding RNA - - - - SwissProt - - - - Ensembl - ENSG00000209082 - - - Genatlas - MT-TL1 - - - HGNC - 7490 - - - OMIM - 590050 - - - ClinVar - MT-TL1 - - - - - mitochondria - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220 - Denys-Drash syndrome - - Disease - - - Disorder - - - - 1655284[PMID] - - WT1 transcription factor - WT1 - - AWT1 - NPHS4 - WAGR - WIT-2 - WT-1 - - - gene with protein product - - - - ClinVar - WT1 - - - Ensembl - ENSG00000184937 - - - Genatlas - WT1 - - - HGNC - 12796 - - - OMIM - 607102 - - - SwissProt - P19544 - - - Reactome - P19544 - - - - - 11p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 5 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=5 - Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency - - Disease - - - Disorder - - - - - - hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha - HADHA - - LCHAD - MTPA - gastrin-binding protein - long-chain 2-enoyl-CoA hydratase - long-chain-3-hydroxyacyl-CoA dehydrogenase - mitochondrial trifunctional protein, alpha subunit - GBP - LCEH - - - gene with protein product - - - - Ensembl - ENSG00000084754 - - - Genatlas - HADHA - - - HGNC - 4801 - - - OMIM - 600890 - - - Reactome - P40939 - - - SwissProt - P40939 - - - ClinVar - HADHA - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 25 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25 - Glutaryl-CoA dehydrogenase deficiency - - Disease - - - Disorder - - - - 18775954[PMID] - - glutaryl-CoA dehydrogenase - GCDH - - ACAD5 - GCD - - - gene with protein product - - - - ClinVar - GCDH - - - Ensembl - ENSG00000105607 - - - Genatlas - GCDH - - - HGNC - 4189 - - - OMIM - 608801 - - - Reactome - Q92947 - - - SwissProt - Q92947 - - - - - 19p13.13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618 - Familial melanoma - - Disease - - - Disorder - - - - 19585149[PMID] - - cyclin dependent kinase 4 - CDK4 - - PSK-J3 - - - gene with protein product - - - - Ensembl - ENSG00000135446 - - - Genatlas - CDK4 - - - HGNC - 1773 - - - IUPHAR - 1976 - - - OMIM - 123829 - - - Reactome - P11802 - - - SwissProt - P11802 - - - ClinVar - CDK4 - - - - - 12q14.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 19585149[PMID] - - cyclin dependent kinase inhibitor 2A - CDKN2A - - ARF - CDK4I - CMM2 - INK4 - INK4a - MTS1 - p14 - p14ARF - p16 - p16INK4a - p19 - p19Arf - inhibitor of cdk4 A - P16-INK4A - CDKN2A/ARF Intron 2 lncRNA - multiple tumour suppressor 1 - cyclin-dependent kinase 4 inhibitor A - p14 alternate open reading frame - p19 alternate open reading frame - CAI2 - - - gene with protein product - - - - Ensembl - ENSG00000147889 - - - Genatlas - CDKN2A - - - HGNC - 1787 - - - OMIM - 600160 - - - Reactome - P42771 - - - SwissProt - P42771 - - - ClinVar - CDKN2A - - - - - 9p21.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 25431349[PMID] - - melanocyte inducing transcription factor - MITF - - MI - bHLHe32 - homolog of mouse microphthalmia - - - gene with protein product - - - - Ensembl - ENSG00000187098 - - - Genatlas - MITF - - - HGNC - 7105 - - - OMIM - 156845 - - - Reactome - O75030 - - - SwissProt - O75030 - - - ClinVar - MITF - - - - - 3p13 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23348503[PMID] - - telomerase reverse transcriptase - TERT - - EST2 - TCS1 - TP2 - TRT - hEST2 - - - gene with protein product - - - - Ensembl - ENSG00000164362 - - - Genatlas - TERT - - - HGNC - 11730 - - - OMIM - 187270 - - - Reactome - O14746 - - - SwissProt - O14746 - - - ClinVar - TERT - - - - - 5p15.33 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 24238329[PMID]_24258989[PMID] - - melanocortin 1 receptor - MC1R - - MSH-R - alpha melanocyte stimulating hormone receptor - - - gene with protein product - - - - Ensembl - ENSG00000258839 - - - Genatlas - MC1R - - - HGNC - 6929 - - - IUPHAR - 282 - - - OMIM - 155555 - - - Reactome - Q01726 - - - SwissProt - Q01726 - - - ClinVar - MC1R - - - - - 16q24.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 25431349[PMID] - - BRCA1 associated deubiquitinase 1 - BAP1 - - KIAA0272 - UCHL2 - hucep-6 - ubiquitin carboxy-terminal hydrolase L2 - - - gene with protein product - - - - Reactome - Q92560 - - - Ensembl - ENSG00000163930 - - - Genatlas - BAP1 - - - HGNC - 950 - - - IUPHAR - 2332 - - - OMIM - 603089 - - - SwissProt - Q92560 - - - ClinVar - BAP1 - - - - - 3p21.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - cyclin dependent kinase inhibitor 2B - CDKN2B - - CDK4I - INK4B - MTS2 - P15 - TP15 - p15INK4b - - - gene with protein product - - - - ClinVar - CDKN2B - - - Ensembl - ENSG00000147883 - - - Genatlas - CDKN2B - - - HGNC - 1788 - - - OMIM - 600431 - - - Reactome - P42772 - - - SwissProt - P42772 - - - - - 9p21.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 24801985[PMID] - - O-6-methylguanine-DNA methyltransferase - MGMT - - methylated-DNA--protein-cysteine methyltransferase - - - gene with protein product - - - - Ensembl - ENSG00000170430 - - - Genatlas - MGMT - - - HGNC - 7059 - - - OMIM - 156569 - - - Reactome - P16455 - - - SwissProt - P16455 - - - ClinVar - MGMT - - - - - 10q26.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 24686846[PMID]_24686849[PMID] - - protection of telomeres 1 - POT1 - - DKFZp586D211 - hPot1 - - - gene with protein product - - - - Ensembl - ENSG00000128513 - - - Genatlas - POT1 - - - HGNC - 17284 - - - OMIM - 606478 - - - Reactome - Q9NUX5 - - - SwissProt - Q9NUX5 - - - ClinVar - POT1 - - - - - 7q31.33 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 25431349[PMID] - - ACD shelterin complex subunit and telomerase recruitment factor - ACD - - POT1 and TIN2 organizing protein - Pip1 - Ptop - TIN2 interacting protein 1 - Tint1 - Tpp1 - - - gene with protein product - - - - ClinVar - ACD - - - Ensembl - ENSG00000102977 - - - Genatlas - ACD - - - HGNC - 25070 - - - OMIM - 609377 - - - Reactome - Q96AP0 - - - SwissProt - Q96AP0 - - - - - 16q22.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 25431349[PMID] - - TERF2 interacting protein - TERF2IP - - RAP1 - - - gene with protein product - - - - ClinVar - TERF2IP - - - Ensembl - ENSG00000166848 - - - Genatlas - TERF2IP - - - HGNC - 19246 - - - OMIM - 605061 - - - Reactome - Q9NYB0 - - - SwissProt - Q9NYB0 - - - - - 16q23.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 - Smith-Lemli-Opitz syndrome - - Malformation syndrome - - - Disorder - - - - 20301322[PMID] - - 7-dehydrocholesterol reductase - DHCR7 - - - - gene with protein product - - - - ClinVar - DHCR7 - - - Ensembl - ENSG00000172893 - - - Genatlas - DHCR7 - - - HGNC - 2860 - - - OMIM - 602858 - - - Reactome - Q9UBM7 - - - SwissProt - Q9UBM7 - - - - - 11q13.4 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 213504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213504 - Adenocarcinoma of ovary - - Disease - - - Disorder - - - - 24302632[PMID] - - inhibin subunit beta A - INHBA - - - - gene with protein product - - - - ClinVar - INHBA - - - Ensembl - ENSG00000122641 - - - Genatlas - INHBA - - - HGNC - 6066 - - - OMIM - 147290 - - - Reactome - P08476 - - - SwissProt - P08476 - - - - - 7p14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=175 - Cartilage-hair hypoplasia - - Disease - - - Disorder - - - - 22420014[PMID] - - RNA component of mitochondrial RNA processing endoribonuclease - RMRP - - NME1 - RMRPR - RRP2 - RNase MRP RNA - - - Non-coding RNA - - - - ClinVar - RMRP - - - Ensembl - ENSG00000277027 - - - Genatlas - RMRP - - - HGNC - 10031 - - - OMIM - 157660 - - - SwissProt - - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 42 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42 - Medium chain acyl-CoA dehydrogenase deficiency - - Disease - - - Disorder - - - - 20301597[PMID] - - acyl-CoA dehydrogenase medium chain - ACADM - - medium-chain acyl-CoA dehydrogenase - ACAD1 - MCAD - MCADH - - - gene with protein product - - - - ClinVar - ACADM - - - Ensembl - ENSG00000117054 - - - Genatlas - ACADM - - - HGNC - 89 - - - OMIM - 607008 - - - Reactome - P11310 - - - SwissProt - P11310 - - - - - 1p31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2066 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2066 - Gamma-aminobutyric acid transaminase deficiency - - Disease - - - Disorder - - - - 9746906[PMID]_10407778[PMID] - - 4-aminobutyrate aminotransferase - ABAT - - 4-aminobutyrate transaminase - GABAT - GABA-T - GABA transaminase - gamma-aminobutyrate aminotransferase - - - gene with protein product - - - - Ensembl - ENSG00000183044 - - - Genatlas - ABAT - - - HGNC - 23 - - - IUPHAR - 2464 - - - OMIM - 137150 - - - Reactome - P80404 - - - SwissProt - P80404 - - - ClinVar - ABAT - - - - - 16p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300 - Bifunctional enzyme deficiency - - Disease - - - Disorder - - - - 9915948[PMID]_24553428[PMID]_25967389[PMID] - - hydroxysteroid 17-beta dehydrogenase 4 - HSD17B4 - - 17-beta-HSD IV - 17-beta-hydroxysteroid dehydrogenase 4 - 17beta-estradiol dehydrogenase type IV - 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase - D-3-hydroxyacyl-CoA dehydratase - D-bifunctional protein, peroxisomal - DBP - MFE-2 - SDR8C1 - beta-hydroxyacyl dehydrogenase - beta-keto-reductase - peroxisomal multifunctional protein 2 - short chain dehydrogenase/reductase family 8C, member 1 - - - gene with protein product - - - - Ensembl - ENSG00000133835 - - - Genatlas - HSD17B4 - - - HGNC - 5213 - - - OMIM - 601860 - - - Reactome - P51659 - - - SwissProt - P51659 - - - ClinVar - HSD17B4 - - - - - 5q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 9501266[PMID] - - enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase - EHHADH - - - - gene with protein product - - - - Reactome - Q08426 - - - ClinVar - EHHADH - - - Ensembl - ENSG00000113790 - - - Genatlas - EHHADH - - - HGNC - 3247 - - - OMIM - 607037 - - - SwissProt - Q08426 - - - - - 3q27.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 213726 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213726 - Serous carcinoma of the corpus uteri - - Disease - - - Disorder - - - - 38443321[PMID] - - erb-b2 receptor tyrosine kinase 2 - ERBB2 - - HER2 - NEU - HER-2 - CD340 - neuro/glioblastoma derived oncogene homolog - human epidermal growth factor receptor 2 - metastatic lymph node gene 19 - c-ERB-2 - p185(erbB2) - MLN-19 - c-ERB2 - - - gene with protein product - - - - SwissProt - P04626 - - - ClinVar - ERBB2 - - - OMIM - 164870 - - - IUPHAR - 2019 - - - Ensembl - ENSG00000141736 - - - Genatlas - ERBB2 - - - HGNC - 3430 - - - - - 17q12 - 1 - - - - - Biomarker tested in - - - Assessed - - - - - - 213711 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213711 - Endometrial stromal sarcoma - - Disease - - - Disorder - - - - 25299308[PMID]_22223660[PMID] - - tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon - YWHAE - - 14-3-3 epsilon - FLJ45465 - - - gene with protein product - - - - ClinVar - YWHAE - - - Ensembl - ENSG00000108953 - - - Genatlas - YWHAE - - - HGNC - 12851 - - - OMIM - 605066 - - - Reactome - P62258 - - - SwissProt - P62258 - - - - - 17p13.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 25299308[PMID] - - JAZF zinc finger 1 - JAZF1 - - DKFZp761K2222 - TIP27 - ZNF802 - - - gene with protein product - - - - HGNC - 28917 - - - OMIM - 606246 - - - SwissProt - Q86VZ6 - - - Ensembl - ENSG00000153814 - - - Genatlas - JAZF1 - - - ClinVar - JAZF1 - - - - - 7p15.2-p15.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 25299308[PMID] - - SUZ12 polycomb repressive complex 2 subunit - SUZ12 - - JJAZ1 - KIAA0160 - CHET9 - - - gene with protein product - - - - ClinVar - SUZ12 - - - Ensembl - ENSG00000178691 - - - Genatlas - SUZ12 - - - HGNC - 17101 - - - OMIM - 606245 - - - Reactome - Q15022 - - - SwissProt - Q15022 - - - - - 17q11.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 25299308[PMID]_22223660[PMID] - - NUT family member 2A - NUTM2A - - - - gene with protein product - - - - ClinVar - FAM22A - - - Ensembl - ENSG00000184923 - - - Genatlas - FAM22A - - - HGNC - 23438 - - - SwissProt - Q8IVF1 - - - OMIM - - - - - - 10q23.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 25299308[PMID]_22223660[PMID] - - NUT family member 2B - NUTM2B - - bA119F19.1 - - - gene with protein product - - - - OMIM - - - - ClinVar - FAM22B - - - Ensembl - ENSG00000188199 - - - Genatlas - FAM22B - - - HGNC - 23445 - - - SwissProt - A6NNL0 - - - - - 10q22.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 3261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3261 - Autoimmune lymphoproliferative syndrome - - Disease - - - Disorder - - - - 20301287[PMID]_10412980[PMID]_17999750[PMID] - - caspase 10 - CASP10 - - MCH4 - FAS-associated death domain protein interleukin-1B-converting enzyme 2 - FLICE-2 - - - gene with protein product - - - - Ensembl - ENSG00000003400 - - - Genatlas - CASP10 - - - HGNC - 1500 - - - IUPHAR - 1626 - - - OMIM - 601762 - - - Reactome - Q92851 - - - SwissProt - Q92851 - - - ClinVar - CASP10 - - - - - 2q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22983577[PMID]_21885602[PMID]_20301287[PMID] - - Fas cell surface death receptor - FAS - - APO-1 - CD95 - TNF receptor superfamily member 6 - - - gene with protein product - - - - ClinVar - FAS - - - IUPHAR - 1875 - - - Ensembl - ENSG00000026103 - - - Genatlas - FAS - - - HGNC - 11920 - - - OMIM - 134637 - - - Reactome - P25445 - - - SwissProt - P25445 - - - - - 10q23.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22983577[PMID]_21885602[PMID]_20301287[PMID] - - Fas cell surface death receptor - FAS - - APO-1 - CD95 - TNF receptor superfamily member 6 - - - gene with protein product - - - - ClinVar - FAS - - - IUPHAR - 1875 - - - Ensembl - ENSG00000026103 - - - Genatlas - FAS - - - HGNC - 11920 - - - OMIM - 134637 - - - Reactome - P25445 - - - SwissProt - P25445 - - - - - 10q23.31 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 20301287[PMID]_16627752[PMID]_17605793[PMID] - - Fas ligand - FASLG - - CD178 - FasL - - - gene with protein product - - - - SwissProt - P48023 - - - ClinVar - FASLG - - - Ensembl - ENSG00000117560 - - - Genatlas - FASLG - - - HGNC - 11936 - - - OMIM - 134638 - - - Reactome - P48023 - - - - - 1q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2849 - Perlman syndrome - - Malformation syndrome - - - Disorder - - - - 22306653[PMID] - - DIS3 like 3'-5' exoribonuclease 2 - DIS3L2 - - FLJ36974 - MGC42174 - - - gene with protein product - - - - Ensembl - ENSG00000144535 - - - Genatlas - DIS3L2 - - - HGNC - 28648 - - - OMIM - 614184 - - - SwissProt - Q8IYB7 - - - ClinVar - DIS3L2 - - - - - 2q37.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 747 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=747 - Autoimmune pulmonary alveolar proteinosis - - Disease - - - Disorder - - - - 33589587[PMID] - - major histocompatibility complex, class II, DR beta 1 - HLA-DRB1 - - - - gene with protein product - - - - ClinVar - HLA-DRB1 - - - Ensembl - ENSG00000196126 - - - Genatlas - HLA-DRB1 - - - HGNC - 4948 - - - OMIM - 142857 - - - Reactome - P04229 - - - SwissProt - P01911 - - - - - 6p21.32 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 2953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953 - Musculocontractural Ehlers-Danlos syndrome - - Disease - - - Disorder - - - - 22581468[PMID]_20533528[PMID] - - carbohydrate sulfotransferase 14 - CHST14 - - D4ST-1 - HD4ST - - - gene with protein product - - - - ClinVar - CHST14 - - - Ensembl - ENSG00000169105 - - - Genatlas - CHST14 - - - HGNC - 24464 - - - OMIM - 608429 - - - Reactome - Q8NCH0 - - - SwissProt - Q8NCH0 - - - - - 15q15.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23704329[PMID] - - dermatan sulfate epimerase - DSE - - DSEPI - DS-Epi1 - - - gene with protein product - - - - Ensembl - ENSG00000111817 - - - Genatlas - DSE - - - HGNC - 21144 - - - OMIM - 605942 - - - Reactome - Q9UL01 - - - SwissProt - Q9UL01 - - - ClinVar - DSE - - - - - 6q22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=782 - Axenfeld-Rieger syndrome - - Malformation syndrome - - - Disorder - - - - 19513095[PMID] - - paired like homeodomain 2 - PITX2 - - ARP1 - Brx1 - IGDS - Otlx2 - RS - - - gene with protein product - - - - Ensembl - ENSG00000164093 - - - Genatlas - PITX2 - - - HGNC - 9005 - - - OMIM - 601542 - - - SwissProt - Q99697 - - - ClinVar - PITX2 - - - Reactome - Q99697 - - - - - 4q25 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 19513095[PMID] - - paired like homeodomain 2 - PITX2 - - ARP1 - Brx1 - IGDS - Otlx2 - RS - - - gene with protein product - - - - Ensembl - ENSG00000164093 - - - Genatlas - PITX2 - - - HGNC - 9005 - - - OMIM - 601542 - - - SwissProt - Q99697 - - - ClinVar - PITX2 - - - Reactome - Q99697 - - - - - 4q25 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 19513095[PMID] - - forkhead box C1 - FOXC1 - - ARA - FREAC3 - IGDA - IHG1 - - - gene with protein product - - - - OMIM - 601090 - - - SwissProt - Q12948 - - - Ensembl - ENSG00000054598 - - - Genatlas - FOXC1 - - - HGNC - 3800 - - - ClinVar - FOXC1 - - - Reactome - Q12948 - - - - - 6p25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 216718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216718 - Isolated congenitally uncorrected transposition of the great arteries - - Clinical subtype - - - Subtype of disorder - - - - 23427188[PMID] - - Zic family member 3 - ZIC3 - - HTX - ZNF203 - - - gene with protein product - - - - ClinVar - ZIC3 - - - Ensembl - ENSG00000156925 - - - Genatlas - ZIC3 - - - HGNC - 12874 - - - OMIM - 300265 - - - Reactome - O60481 - - - SwissProt - O60481 - - - - - Xq26.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - growth differentiation factor 1 - GDF1 - - - - gene with protein product - - - - ClinVar - GDF1 - - - SwissProt - P27539 - - - Ensembl - ENSG00000130283 - - - Genatlas - GDF1 - - - HGNC - 4214 - - - OMIM - 602880 - - - Reactome - P27539 - - - - - 19p13.11 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - mediator complex subunit 13L - MED13L - - KIAA1025 - TRAP240L - - - gene with protein product - - - - ClinVar - MED13L - - - Ensembl - ENSG00000123066 - - - Genatlas - MED13L - - - HGNC - 22962 - - - OMIM - 608771 - - - Reactome - Q71F56 - - - SwissProt - Q71F56 - - - - - 12q24.21 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - 11799476[PMID] - - cryptic, EGF-CFC family member 1 - CFC1 - - CRYPTIC - - - gene with protein product - - - - ClinVar - CFC1 - - - Ensembl - ENSG00000136698 - - - Genatlas - CFC1 - - - HGNC - 18292 - - - OMIM - 605194 - - - Reactome - P0CG37 - - - SwissProt - P0CG37 - - - - - 2q21.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 216729 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216729 - Congenitally uncorrected transposition of the great arteries with cardiac malformation - - Clinical subtype - - - Subtype of disorder - - - - 11799476[PMID] - - cryptic, EGF-CFC family member 1 - CFC1 - - CRYPTIC - - - gene with protein product - - - - ClinVar - CFC1 - - - Ensembl - ENSG00000136698 - - - Genatlas - CFC1 - - - HGNC - 18292 - - - OMIM - 605194 - - - Reactome - P0CG37 - - - SwissProt - P0CG37 - - - - - 2q21.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=882 - Tyrosinemia type 1 - - Disease - - - Disorder - - - - 20301688[PMID] - - fumarylacetoacetate hydrolase - FAH - - fumarylacetoacetase - - - gene with protein product - - - - Ensembl - ENSG00000103876 - - - Genatlas - FAH - - - HGNC - 3579 - - - OMIM - 613871 - - - Reactome - P16930 - - - SwissProt - P16930 - - - ClinVar - FAH - - - - - 15q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 216796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216796 - Osteogenesis imperfecta type 1 - - Clinical subtype - - - Subtype of disorder - - - - 30913006[PMID]_30948499[PMID] - - prolyl 4-hydroxylase subunit beta - P4HB - - DSI - GIT - P4Hbeta - PDI - PDIA1 - PO4HB - PROHB - collagen prolyl 4-hydroxylase beta - protein disulfide isomerase family A, member 1 - protein disulfide isomerase-associated 1 - - - gene with protein product - - - - ClinVar - P4HB - - - Ensembl - ENSG00000185624 - - - Genatlas - P4HB - - - HGNC - 8548 - - - OMIM - 176790 - - - Reactome - P07237 - - - SwissProt - P07237 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25683121[PMID] - - SEC24 homolog D, COPII coat complex component - SEC24D - - KIAA0755 - - - gene with protein product - - - - Ensembl - ENSG00000150961 - - - Genatlas - SEC24D - - - HGNC - 10706 - - - OMIM - 607186 - - - Reactome - O94855 - - - SwissProt - O94855 - - - ClinVar - SEC24D - - - - - 4q26 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21438135[PMID]_20301472[PMID] - - collagen type I alpha 1 chain - COL1A1 - - OI4 - - - gene with protein product - - - - ClinVar - COL1A1 - - - Ensembl - ENSG00000108821 - - - Genatlas - COL1A1 - - - HGNC - 2197 - - - OMIM - 120150 - - - Reactome - P02452 - - - SwissProt - P02452 - - - - - 17q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21438135[PMID]_20301472[PMID] - - collagen type I alpha 2 chain - COL1A2 - - alpha 2(I)-collagen - alpha-2 collagen type I - collagen I, alpha-2 polypeptide - collagen of skin, tendon and bone, alpha-2 chain - type I procollagen - - - gene with protein product - - - - ClinVar - COL1A2 - - - OMIM - 120160 - - - Reactome - P08123 - - - SwissProt - P08123 - - - Ensembl - ENSG00000164692 - - - Genatlas - COL1A2 - - - HGNC - 2198 - - - - - 7q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27380894[PMID] - - membrane bound transcription factor peptidase, site 2 - MBTPS2 - - sterol regulatory element-binding proteins intramembrane protease - S2P - site-2 protease - - - gene with protein product - - - - Ensembl - ENSG00000012174 - - - Genatlas - MBTPS2 - - - HGNC - 15455 - - - OMIM - 300294 - - - Reactome - O43462 - - - SwissProt - O43462 - - - ClinVar - MBTPS2 - - - - - Xp22.12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 216804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216804 - Osteogenesis imperfecta type 2 - - Clinical subtype - - - Subtype of disorder - - - - 21438135[PMID]_20301472[PMID] - - collagen type I alpha 1 chain - COL1A1 - - OI4 - - - gene with protein product - - - - ClinVar - COL1A1 - - - Ensembl - ENSG00000108821 - - - Genatlas - COL1A1 - - - HGNC - 2197 - - - OMIM - 120150 - - - Reactome - P02452 - - - SwissProt - P02452 - - - - - 17q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21438135[PMID]_20301472[PMID] - - collagen type I alpha 2 chain - COL1A2 - - alpha 2(I)-collagen - alpha-2 collagen type I - collagen I, alpha-2 polypeptide - collagen of skin, tendon and bone, alpha-2 chain - type I procollagen - - - gene with protein product - - - - ClinVar - COL1A2 - - - OMIM - 120160 - - - Reactome - P08123 - - - SwissProt - P08123 - - - Ensembl - ENSG00000164692 - - - Genatlas - COL1A2 - - - HGNC - 2198 - - - - - 7q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21438135[PMID] - - prolyl 3-hydroxylase 1 - P3H1 - - LEPRECAN - MGC117314 - growth suppressor 1 - procollagen-proline 3-dioxygenase - GROS1 - - - gene with protein product - - - - ClinVar - LEPRE1 - - - Ensembl - ENSG00000117385 - - - Genatlas - LEPRE1 - - - HGNC - 19316 - - - OMIM - 610339 - - - Reactome - Q32P28 - - - SwissProt - Q32P28 - - - - - 1p34.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21438135[PMID] - - cartilage associated protein - CRTAP - - CASP - LEPREL3 - P3H5 - leprecan-like 3 - prolyl 3-hydroxylase family member 5 (non-enzymatic) - - - gene with protein product - - - - ClinVar - CRTAP - - - Ensembl - ENSG00000170275 - - - Genatlas - CRTAP - - - HGNC - 2379 - - - OMIM - 605497 - - - Reactome - O75718 - - - SwissProt - O75718 - - - - - 3p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21438135[PMID] - - peptidylprolyl isomerase B - PPIB - - rotamase B - S-cyclophilin - SCYLP - PPIase - B - CYP-S1 - CYPB - OI9 - cyclophilin B - peptidyl-prolyl cis-trans isomerase B - - - gene with protein product - - - - ClinVar - PPIB - - - SwissProt - P23284 - - - Ensembl - ENSG00000166794 - - - Genatlas - PPIB - - - HGNC - 9255 - - - OMIM - 123841 - - - Reactome - P23284 - - - - - 15q22.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33596325[PMID]_31564437[PMID] - - mesoderm development LRP chaperone - MESD - - KIAA0081 - BOCA - - - gene with protein product - - - - Ensembl - ENSG00000117899 - - - HGNC - 13520 - - - SwissProt - Q14696 - - - OMIM - 607783 - - - - - 15q25.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 216812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216812 - Osteogenesis imperfecta type 3 - - Clinical subtype - - - Subtype of disorder - - - - 27380894[PMID] - - membrane bound transcription factor peptidase, site 2 - MBTPS2 - - sterol regulatory element-binding proteins intramembrane protease - S2P - site-2 protease - - - gene with protein product - - - - Ensembl - ENSG00000012174 - - - Genatlas - MBTPS2 - - - HGNC - 15455 - - - OMIM - 300294 - - - Reactome - O43462 - - - SwissProt - O43462 - - - ClinVar - MBTPS2 - - - - - Xp22.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21438135[PMID]_20301472[PMID] - - collagen type I alpha 1 chain - COL1A1 - - OI4 - - - gene with protein product - - - - ClinVar - COL1A1 - - - Ensembl - ENSG00000108821 - - - Genatlas - COL1A1 - - - HGNC - 2197 - - - OMIM - 120150 - - - Reactome - P02452 - - - SwissProt - P02452 - - - - - 17q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21438135[PMID]_20301472[PMID] - - collagen type I alpha 2 chain - COL1A2 - - alpha 2(I)-collagen - alpha-2 collagen type I - collagen I, alpha-2 polypeptide - collagen of skin, tendon and bone, alpha-2 chain - type I procollagen - - - gene with protein product - - - - ClinVar - COL1A2 - - - OMIM - 120160 - - - Reactome - P08123 - - - SwissProt - P08123 - - - Ensembl - ENSG00000164692 - - - Genatlas - COL1A2 - - - HGNC - 2198 - - - - - 7q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21438135[PMID] - - prolyl 3-hydroxylase 1 - P3H1 - - LEPRECAN - MGC117314 - growth suppressor 1 - procollagen-proline 3-dioxygenase - GROS1 - - - gene with protein product - - - - ClinVar - LEPRE1 - - - Ensembl - ENSG00000117385 - - - Genatlas - LEPRE1 - - - HGNC - 19316 - - - OMIM - 610339 - - - Reactome - Q32P28 - - - SwissProt - Q32P28 - - - - - 1p34.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21438135[PMID] - - cartilage associated protein - CRTAP - - CASP - LEPREL3 - P3H5 - leprecan-like 3 - prolyl 3-hydroxylase family member 5 (non-enzymatic) - - - gene with protein product - - - - ClinVar - CRTAP - - - Ensembl - ENSG00000170275 - - - Genatlas - CRTAP - - - HGNC - 2379 - - - OMIM - 605497 - - - Reactome - O75718 - - - SwissProt - O75718 - - - - - 3p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24079343[PMID] - - cAMP responsive element binding protein 3 like 1 - CREB3L1 - - BBF-2 homolog (drosophila) - OASIS - old astrocyte specifically induced substance - - - gene with protein product - - - - Reactome - Q96BA8 - - - ClinVar - CREB3L1 - - - Ensembl - ENSG00000157613 - - - Genatlas - CREB3L1 - - - HGNC - 18856 - - - OMIM - 616215 - - - SwissProt - Q96BA8 - - - - - 11p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21438135[PMID] - - peptidylprolyl isomerase B - PPIB - - rotamase B - S-cyclophilin - SCYLP - PPIase - B - CYP-S1 - CYPB - OI9 - cyclophilin B - peptidyl-prolyl cis-trans isomerase B - - - gene with protein product - - - - ClinVar - PPIB - - - SwissProt - P23284 - - - Ensembl - ENSG00000166794 - - - Genatlas - PPIB - - - HGNC - 9255 - - - OMIM - 123841 - - - Reactome - P23284 - - - - - 15q22.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21438135[PMID] - - serpin family H member 1 - SERPINH1 - - HSP47 - colligen - collagen binding protein 1 - heat shock protein 47 - colligin - - - gene with protein product - - - - Ensembl - ENSG00000149257 - - - Genatlas - SERPINH1 - - - HGNC - 1546 - - - OMIM - 600943 - - - Reactome - P50454 - - - SwissProt - P50454 - - - ClinVar - SERPINH1 - - - - - 11q13.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21438135[PMID]_25046257[PMID] - - FKBP prolyl isomerase 10 - FKBP10 - - FKBP6 - FLJ20683 - FLJ22041 - FLJ23833 - hFKBP65 - FKBP65 - - - gene with protein product - - - - OMIM - 607063 - - - SwissProt - Q96AY3 - - - Ensembl - ENSG00000141756 - - - Genatlas - FKBP10 - - - HGNC - 18169 - - - ClinVar - FKBP10 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21353196[PMID]_25046257[PMID] - - serpin family F member 1 - SERPINF1 - - EPC-1 - PIG35 - pigment epithelium-derived factor - proliferation-inducing protein 35 - alpha-2 antiplasmin - - - gene with protein product - - - - ClinVar - SERPINF1 - - - Genatlas - SERPINF1 - - - HGNC - 8824 - - - OMIM - 172860 - - - SwissProt - P36955 - - - Ensembl - ENSG00000132386 - - - - - 17p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23499310[PMID]_25046257[PMID] - - Wnt family member 1 - WNT1 - - - - gene with protein product - - - - ClinVar - WNT1 - - - Ensembl - ENSG00000125084 - - - Genatlas - WNT1 - - - HGNC - 12774 - - - OMIM - 164820 - - - Reactome - P04628 - - - SwissProt - P04628 - - - - - 12q13.12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 29358272[PMID] - - terminal nucleotidyltransferase 5A - TENT5A - - FLJ20037 - - - gene with protein product - - - - HGNC - 18345 - - - Ensembl - ENSG00000112773 - - - SwissProt - Q96IP4 - - - Reactome - Q96IP4 - - - OMIM - 611357 - - - - - 6q14.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22052668[PMID] - - bone morphogenetic protein 1 - BMP1 - - BMP-1 - tolloid-like - - - gene with protein product - - - - Ensembl - ENSG00000168487 - - - Genatlas - BMP1 - - - HGNC - 1067 - - - IUPHAR - 2333 - - - OMIM - 112264 - - - Reactome - P13497 - - - SwissProt - P13497 - - - ClinVar - BMP1 - - - - - 8p21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 216820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216820 - Osteogenesis imperfecta type 4 - - Clinical subtype - - - Subtype of disorder - - - - 27380894[PMID] - - membrane bound transcription factor peptidase, site 2 - MBTPS2 - - sterol regulatory element-binding proteins intramembrane protease - S2P - site-2 protease - - - gene with protein product - - - - Ensembl - ENSG00000012174 - - - Genatlas - MBTPS2 - - - HGNC - 15455 - - - OMIM - 300294 - - - Reactome - O43462 - - - SwissProt - O43462 - - - ClinVar - MBTPS2 - - - - - Xp22.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23313006[PMID]_25046257[PMID] - - transmembrane protein 38B - TMEM38B - - D4Ertd89e - FLJ10493 - TRIC-B - bA219P18.1 - - - gene with protein product - - - - ClinVar - TMEM38B - - - Genatlas - TMEM38B - - - HGNC - 25535 - - - OMIM - 611236 - - - SwissProt - Q9NVV0 - - - Ensembl - ENSG00000095209 - - - - - 9q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21438135[PMID]_20301472[PMID] - - collagen type I alpha 1 chain - COL1A1 - - OI4 - - - gene with protein product - - - - ClinVar - COL1A1 - - - Ensembl - ENSG00000108821 - - - Genatlas - COL1A1 - - - HGNC - 2197 - - - OMIM - 120150 - - - Reactome - P02452 - - - SwissProt - P02452 - - - - - 17q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21438135[PMID]_20301472[PMID] - - collagen type I alpha 2 chain - COL1A2 - - alpha 2(I)-collagen - alpha-2 collagen type I - collagen I, alpha-2 polypeptide - collagen of skin, tendon and bone, alpha-2 chain - type I procollagen - - - gene with protein product - - - - ClinVar - COL1A2 - - - OMIM - 120160 - - - Reactome - P08123 - - - SwissProt - P08123 - - - Ensembl - ENSG00000164692 - - - Genatlas - COL1A2 - - - HGNC - 2198 - - - - - 7q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21438135[PMID] - - cartilage associated protein - CRTAP - - CASP - LEPREL3 - P3H5 - leprecan-like 3 - prolyl 3-hydroxylase family member 5 (non-enzymatic) - - - gene with protein product - - - - ClinVar - CRTAP - - - Ensembl - ENSG00000170275 - - - Genatlas - CRTAP - - - HGNC - 2379 - - - OMIM - 605497 - - - Reactome - O75718 - - - SwissProt - O75718 - - - - - 3p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21282188[PMID] - - peptidylprolyl isomerase B - PPIB - - rotamase B - S-cyclophilin - SCYLP - PPIase - B - CYP-S1 - CYPB - OI9 - cyclophilin B - peptidyl-prolyl cis-trans isomerase B - - - gene with protein product - - - - ClinVar - PPIB - - - SwissProt - P23284 - - - Ensembl - ENSG00000166794 - - - Genatlas - PPIB - - - HGNC - 9255 - - - OMIM - 123841 - - - Reactome - P23284 - - - - - 15q22.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21438135[PMID]_25046257[PMID] - - FKBP prolyl isomerase 10 - FKBP10 - - FKBP6 - FLJ20683 - FLJ22041 - FLJ23833 - hFKBP65 - FKBP65 - - - gene with protein product - - - - OMIM - 607063 - - - SwissProt - Q96AY3 - - - Ensembl - ENSG00000141756 - - - Genatlas - FKBP10 - - - HGNC - 18169 - - - ClinVar - FKBP10 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21438135[PMID] - - Sp7 transcription factor - SP7 - - OSX - osterix - - - gene with protein product - - - - ClinVar - SP7 - - - Ensembl - ENSG00000170374 - - - Genatlas - SP7 - - - HGNC - 17321 - - - OMIM - 606633 - - - SwissProt - Q8TDD2 - - - Reactome - Q8TDD2 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25046257[PMID] - - serpin family F member 1 - SERPINF1 - - EPC-1 - PIG35 - pigment epithelium-derived factor - proliferation-inducing protein 35 - alpha-2 antiplasmin - - - gene with protein product - - - - ClinVar - SERPINF1 - - - Genatlas - SERPINF1 - - - HGNC - 8824 - - - OMIM - 172860 - - - SwissProt - P36955 - - - Ensembl - ENSG00000132386 - - - - - 17p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23434763[PMID]_25046257[PMID] - - Wnt family member 1 - WNT1 - - - - gene with protein product - - - - ClinVar - WNT1 - - - Ensembl - ENSG00000125084 - - - Genatlas - WNT1 - - - HGNC - 12774 - - - OMIM - 164820 - - - Reactome - P04628 - - - SwissProt - P04628 - - - - - 12q13.12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 26027498[PMID] - - secreted protein acidic and cysteine rich - SPARC - - cysteine-rich protein - secreted protein acidic and rich in cysteine - ONT - BM-40 - - - gene with protein product - - - - Ensembl - ENSG00000113140 - - - Genatlas - SPARC - - - HGNC - 11219 - - - OMIM - 182120 - - - Reactome - P09486 - - - SwissProt - P09486 - - - ClinVar - SPARC - - - - - 5q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 216828 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216828 - Osteogenesis imperfecta type 5 - - Clinical subtype - - - Subtype of disorder - - - - 22863190[PMID]_22863195[PMID]_25046257[PMID] - - interferon induced transmembrane protein 5 - IFITM5 - - DSPA1 - fragilis4 - dispanin subfamily A member 1 - BRIL - Fragilis4 - Hrmp1 - - - gene with protein product - - - - ClinVar - IFITM5 - - - Ensembl - ENSG00000206013 - - - Genatlas - IFITM5 - - - HGNC - 16644 - - - OMIM - 614757 - - - SwissProt - A6NNB3 - - - - - 11p15.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474 - CHIME syndrome - - Malformation syndrome - - - Disorder - - - - 22444671[PMID] - - phosphatidylinositol glycan anchor biosynthesis class L - PIGL - - PIG-L - N-acetylglucosaminylphosphatidylinositol deacetylase - N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase - - - gene with protein product - - - - Ensembl - ENSG00000108474 - - - Genatlas - PIGL - - - HGNC - 8966 - - - OMIM - 605947 - - - Reactome - Q9Y2B2 - - - SwissProt - Q9Y2B2 - - - ClinVar - PIGL - - - - - 17p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 216866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866 - Classic pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - Subtype of disorder - - - - - - pantothenate kinase 2 - PANK2 - - FLJ11729 - HARP - HSS - Hallervorden-Spatz syndrome - PKAN - pantothenate kinase-associated neurodegeneration - - - gene with protein product - - - - OMIM - 606157 - - - Reactome - Q9BZ23 - - - SwissProt - Q9BZ23 - - - Ensembl - ENSG00000125779 - - - Genatlas - PANK2 - - - HGNC - 15894 - - - ClinVar - PANK2 - - - - - 20p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 216873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873 - Atypical pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - Subtype of disorder - - - - - - pantothenate kinase 2 - PANK2 - - FLJ11729 - HARP - HSS - Hallervorden-Spatz syndrome - PKAN - pantothenate kinase-associated neurodegeneration - - - gene with protein product - - - - OMIM - 606157 - - - Reactome - Q9BZ23 - - - SwissProt - Q9BZ23 - - - Ensembl - ENSG00000125779 - - - Genatlas - PANK2 - - - HGNC - 15894 - - - ClinVar - PANK2 - - - - - 20p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 216972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216972 - Niemann-Pick disease type C, severe perinatal form - - Clinical subtype - - - Subtype of disorder - - - - 20301473[PMID] - - NPC intracellular cholesterol transporter 1 - NPC1 - - SLC65A1 - - - gene with protein product - - - - Ensembl - ENSG00000141458 - - - Genatlas - NPC1 - - - HGNC - 7897 - - - OMIM - 607623 - - - SwissProt - O15118 - - - Reactome - O15118 - - - ClinVar - NPC1 - - - IUPHAR - 3051 - - - - - 18q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301473[PMID] - - NPC intracellular cholesterol transporter 2 - NPC2 - - EDDM1 - HE1 - NP-C2 - epididymal protein 1 - - - gene with protein product - - - - Ensembl - ENSG00000119655 - - - Genatlas - NPC2 - - - HGNC - 14537 - - - Reactome - P61916 - - - ClinVar - NPC2 - - - OMIM - 601015 - - - SwissProt - P61916 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 216978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216978 - Niemann-Pick disease type C, late infantile neurologic onset - - Clinical subtype - - - Subtype of disorder - - - - 20301473[PMID] - - NPC intracellular cholesterol transporter 1 - NPC1 - - SLC65A1 - - - gene with protein product - - - - Ensembl - ENSG00000141458 - - - Genatlas - NPC1 - - - HGNC - 7897 - - - OMIM - 607623 - - - SwissProt - O15118 - - - Reactome - O15118 - - - ClinVar - NPC1 - - - IUPHAR - 3051 - - - - - 18q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301473[PMID] - - NPC intracellular cholesterol transporter 2 - NPC2 - - EDDM1 - HE1 - NP-C2 - epididymal protein 1 - - - gene with protein product - - - - Ensembl - ENSG00000119655 - - - Genatlas - NPC2 - - - HGNC - 14537 - - - Reactome - P61916 - - - ClinVar - NPC2 - - - OMIM - 601015 - - - SwissProt - P61916 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=361 - Familial glucocorticoid deficiency - - Disease - - - Disorder - - - - 19773404[PMID] - - steroidogenic acute regulatory protein - STAR - - STARD1 - StAR - StAR related lipid transfer (START) domain containing 1 - - - gene with protein product - - - - SwissProt - P49675 - - - Ensembl - ENSG00000147465 - - - Genatlas - STAR - - - HGNC - 11359 - - - OMIM - 600617 - - - Reactome - P49675 - - - ClinVar - STAR - - - - - 8p11.23 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 8069303[PMID]_17128564[PMID]_18492762[PMID] - - melanocortin 2 receptor - MC2R - - ACTHR - adrenocorticotropic hormone receptor - - - gene with protein product - - - - Ensembl - ENSG00000185231 - - - Genatlas - MC2R - - - HGNC - 6930 - - - IUPHAR - 283 - - - OMIM - 607397 - - - Reactome - Q01718 - - - SwissProt - Q01718 - - - ClinVar - MC2R - - - - - 18p11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15654338[PMID]_17893271[PMID]_20427498[PMID] - - melanocortin 2 receptor accessory protein - MRAP - - B27 - FALP - MRAP1 - - - gene with protein product - - - - ClinVar - MRAP - - - Ensembl - ENSG00000170262 - - - Genatlas - MRAP - - - HGNC - 1304 - - - OMIM - 609196 - - - SwissProt - Q8TCY5 - - - - - 21q22.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24601690[PMID] - - thioredoxin reductase 2 - TXNRD2 - - TXNR2 - Selenoprotein Z - TR - TR3 - TRXR2 - Thioredoxin reductase beta - selenoprotein Z - thioredoxin reductase beta - SELZ - - - gene with protein product - - - - Ensembl - ENSG00000184470 - - - Genatlas - TXNRD2 - - - HGNC - 18155 - - - OMIM - 606448 - - - Reactome - Q9NNW7 - - - SwissProt - Q9NNW7 - - - ClinVar - TXNRD2 - - - - - 22q11.21 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22634753[PMID] - - nicotinamide nucleotide transhydrogenase - NNT - - - - gene with protein product - - - - Ensembl - ENSG00000112992 - - - Genatlas - NNT - - - HGNC - 7863 - - - OMIM - 607878 - - - Reactome - Q13423 - - - SwissProt - Q13423 - - - ClinVar - NNT - - - - - 5p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 216975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216975 - Niemann-Pick disease type C, severe early infantile neurologic onset - - Clinical subtype - - - Subtype of disorder - - - - 20301473[PMID] - - NPC intracellular cholesterol transporter 1 - NPC1 - - SLC65A1 - - - gene with protein product - - - - Ensembl - ENSG00000141458 - - - Genatlas - NPC1 - - - HGNC - 7897 - - - OMIM - 607623 - - - SwissProt - O15118 - - - Reactome - O15118 - - - ClinVar - NPC1 - - - IUPHAR - 3051 - - - - - 18q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301473[PMID] - - NPC intracellular cholesterol transporter 2 - NPC2 - - EDDM1 - HE1 - NP-C2 - epididymal protein 1 - - - gene with protein product - - - - Ensembl - ENSG00000119655 - - - Genatlas - NPC2 - - - HGNC - 14537 - - - Reactome - P61916 - - - ClinVar - NPC2 - - - OMIM - 601015 - - - SwissProt - P61916 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 216986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216986 - Niemann-Pick disease type C, adult neurologic onset - - Clinical subtype - - - Subtype of disorder - - - - 20301473[PMID] - - NPC intracellular cholesterol transporter 1 - NPC1 - - SLC65A1 - - - gene with protein product - - - - Ensembl - ENSG00000141458 - - - Genatlas - NPC1 - - - HGNC - 7897 - - - OMIM - 607623 - - - SwissProt - O15118 - - - Reactome - O15118 - - - ClinVar - NPC1 - - - IUPHAR - 3051 - - - - - 18q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301473[PMID] - - NPC intracellular cholesterol transporter 2 - NPC2 - - EDDM1 - HE1 - NP-C2 - epididymal protein 1 - - - gene with protein product - - - - Ensembl - ENSG00000119655 - - - Genatlas - NPC2 - - - HGNC - 14537 - - - Reactome - P61916 - - - ClinVar - NPC2 - - - OMIM - 601015 - - - SwissProt - P61916 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 216981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216981 - Niemann-Pick disease type C, juvenile neurologic onset - - Clinical subtype - - - Subtype of disorder - - - - 20301473[PMID] - - NPC intracellular cholesterol transporter 1 - NPC1 - - SLC65A1 - - - gene with protein product - - - - Ensembl - ENSG00000141458 - - - Genatlas - NPC1 - - - HGNC - 7897 - - - OMIM - 607623 - - - SwissProt - O15118 - - - Reactome - O15118 - - - ClinVar - NPC1 - - - IUPHAR - 3051 - - - - - 18q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301473[PMID] - - NPC intracellular cholesterol transporter 2 - NPC2 - - EDDM1 - HE1 - NP-C2 - epididymal protein 1 - - - gene with protein product - - - - Ensembl - ENSG00000119655 - - - Genatlas - NPC2 - - - HGNC - 14537 - - - Reactome - P61916 - - - ClinVar - NPC2 - - - OMIM - 601015 - - - SwissProt - P61916 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 217012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217012 - Spinocerebellar ataxia type 31 - - Disease - - - Disorder - - - - 17611710[PMID]_19878914[PMID]_22992774[PMID]_20301317[PMID] - - brain expressed associated with NEDD4 1 - BEAN1 - - - - gene with protein product - - - - Ensembl - ENSG00000166546 - - - Genatlas - BEAN1 - - - HGNC - 24160 - - - OMIM - 612051 - - - SwissProt - Q3B7T3 - - - ClinVar - BEAN1 - - - - - 16q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2088 - Fanconi-Bickel syndrome - - Disease - - - Disorder - - - - 21327337[PMID]_22865906[PMID] - - solute carrier family 2 member 2 - SLC2A2 - - GLUT-2 - - - gene with protein product - - - - IUPHAR - 876 - - - Ensembl - ENSG00000163581 - - - Genatlas - SLC2A2 - - - HGNC - 11006 - - - OMIM - 138160 - - - Reactome - P11168 - - - SwissProt - P11168 - - - ClinVar - SLC2A2 - - - - - 3q26.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 217266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217266 - BNAR syndrome - - Malformation syndrome - - - Disorder - - - - 19732862[PMID]_23401257[PMID] - - FRAS1 related extracellular matrix 1 - FREM1 - - C9orf143 - C9orf145 - DKFZp686M16108 - FLJ25461 - TILRR - - - gene with protein product - - - - Ensembl - ENSG00000164946 - - - Genatlas - FREM1 - - - HGNC - 23399 - - - OMIM - 608944 - - - SwissProt - Q5H8C1 - - - ClinVar - FREM1 - - - - - 9p22.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179 - Birdshot chorioretinopathy - - Disease - - - Disorder - - - - 24474930[PMID] - - major histocompatibility complex, class I, A - HLA-A - - - - gene with protein product - - - - HGNC - 4931 - - - OMIM - 142800 - - - SwissProt - P04439 - - - Ensembl - ENSG00000206503 - - - Genatlas - HLA-A - - - Reactome - P04439 - - - ClinVar - HLA-A - - - - - 6p22.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 2584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2584 - Classic mycosis fungoides - - Disease - - - Disorder - - - - 26258847[PMID] - - cytotoxic T-lymphocyte associated protein 4 - CTLA4 - - CD - CD152 - GSE - gluten-sensitive enteropathy - celiac disease - CTLA-4 - - - gene with protein product - - - - IUPHAR - 2743 - - - ClinVar - CTLA4 - - - Ensembl - ENSG00000163599 - - - Genatlas - CTLA4 - - - HGNC - 2505 - - - OMIM - 123890 - - - Reactome - P16410 - - - SwissProt - P16410 - - - - - 2q33.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 26258847[PMID] - - TNF receptor superfamily member 1B - TNFRSF1B - - CD120b - TNF-R-II - TNF-R75 - TNFBR - TNFR80 - p75 - - - gene with protein product - - - - SwissProt - P20333 - - - Ensembl - ENSG00000028137 - - - Genatlas - TNFRSF1B - - - HGNC - 11917 - - - ClinVar - TNFRSF1B - - - IUPHAR - 1871 - - - OMIM - 191191 - - - Reactome - P20333 - - - - - 1p36.22 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 26258847[PMID] - - CD28 molecule - CD28 - - T-cell-specific surface glycoprotein - - - gene with protein product - - - - Ensembl - ENSG00000178562 - - - Genatlas - CD28 - - - HGNC - 1653 - - - IUPHAR - 2863 - - - OMIM - 186760 - - - Reactome - P10747 - - - SwissProt - P10747 - - - ClinVar - CD28 - - - - - 2q33.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 217093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093 - Mucopolysaccharidosis type 2, attenuated form - - Clinical subtype - - - Subtype of disorder - - - - - - iduronate 2-sulfatase - IDS - - Hunter syndrome - ID2S - - - gene with protein product - - - - ClinVar - IDS - - - Ensembl - ENSG00000010404 - - - Genatlas - IDS - - - HGNC - 5389 - - - OMIM - 300823 - - - Reactome - P22304 - - - SwissProt - P22304 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3162 - Sézary syndrome - - Disease - - - Disorder - - - - 26258847[PMID] - - cytotoxic T-lymphocyte associated protein 4 - CTLA4 - - CD - CD152 - GSE - gluten-sensitive enteropathy - celiac disease - CTLA-4 - - - gene with protein product - - - - IUPHAR - 2743 - - - ClinVar - CTLA4 - - - Ensembl - ENSG00000163599 - - - Genatlas - CTLA4 - - - HGNC - 2505 - - - OMIM - 123890 - - - Reactome - P16410 - - - SwissProt - P16410 - - - - - 2q33.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 26258847[PMID] - - TNF receptor superfamily member 1B - TNFRSF1B - - CD120b - TNF-R-II - TNF-R75 - TNFBR - TNFR80 - p75 - - - gene with protein product - - - - SwissProt - P20333 - - - Ensembl - ENSG00000028137 - - - Genatlas - TNFRSF1B - - - HGNC - 11917 - - - ClinVar - TNFRSF1B - - - IUPHAR - 1871 - - - OMIM - 191191 - - - Reactome - P20333 - - - - - 1p36.22 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 26258847[PMID] - - CD28 molecule - CD28 - - T-cell-specific surface glycoprotein - - - gene with protein product - - - - Ensembl - ENSG00000178562 - - - Genatlas - CD28 - - - HGNC - 1653 - - - IUPHAR - 2863 - - - OMIM - 186760 - - - Reactome - P10747 - - - SwissProt - P10747 - - - ClinVar - CD28 - - - - - 2q33.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 217085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085 - Mucopolysaccharidosis type 2, severe form - - Clinical subtype - - - Subtype of disorder - - - - - - iduronate 2-sulfatase - IDS - - Hunter syndrome - ID2S - - - gene with protein product - - - - ClinVar - IDS - - - Ensembl - ENSG00000010404 - - - Genatlas - IDS - - - HGNC - 5389 - - - OMIM - 300823 - - - Reactome - P22304 - - - SwissProt - P22304 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1451 - CINCA syndrome - - Disease - - - Disorder - - - - 15801036[PMID]_12032915[PMID] - - NLR family pyrin domain containing 3 - NLRP3 - - AGTAVPRL - AII - AVP - CLR1.1 - Cryopyrin - FCAS - FCU - MWS - NALP3 - PYPAF1 - nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3 - - - gene with protein product - - - - Ensembl - ENSG00000162711 - - - Genatlas - NLRP3 - - - HGNC - 16400 - - - OMIM - 606416 - - - Reactome - Q96P20 - - - SwissProt - Q96P20 - - - IUPHAR - 1770 - - - ClinVar - NLRP3 - - - - - 1q44 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 217059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217059 - Isolated nail clubbing - - Morphological anomaly - - - Disorder - - - - 18805827[PMID] - - 15-hydroxyprostaglandin dehydrogenase - HPGD - - SDR36C1 - 15-hydroxyprostaglandin dehydrogenase (NAD(+)) - short chain dehydrogenase/reductase family 36C, member 1 - - - gene with protein product - - - - OMIM - 601688 - - - Reactome - P15428 - - - SwissProt - P15428 - - - ClinVar - HPGD - - - Ensembl - ENSG00000164120 - - - Genatlas - HPGD - - - HGNC - 5154 - - - IUPHAR - 1384 - - - - - 4q34.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 217055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217055 - Autosomal recessive intermediate Charcot-Marie-Tooth disease type A - - Disease - - - Disorder - - - - 12566285[PMID]_12499475[PMID] - - ganglioside induced differentiation associated protein 1 - GDAP1 - - CMT2K - CMT4 - - - gene with protein product - - - - ClinVar - GDAP1 - - - Ensembl - ENSG00000104381 - - - Genatlas - GDAP1 - - - HGNC - 15968 - - - OMIM - 606598 - - - SwissProt - Q8TB36 - - - - - 8q21.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 217335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217335 - RIN2 syndrome - - Malformation syndrome - - - Disorder - - - - 19631308[PMID]_24449201[PMID] - - Ras and Rab interactor 2 - RIN2 - - RASSF4 - - - gene with protein product - - - - Ensembl - ENSG00000132669 - - - Genatlas - RIN2 - - - HGNC - 18750 - - - OMIM - 610222 - - - SwissProt - Q8WYP3 - - - Reactome - Q8WYP3 - - - ClinVar - RIN2 - - - - - 20p11.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745 - Opitz GBBB syndrome - - Malformation syndrome - - - Disorder - - - - 15558842[PMID] - - midline 1 - MID1 - - FXY - OS - Opitz/BBB syndrome - RNF59 - TRIM18 - - - gene with protein product - - - - Ensembl - ENSG00000101871 - - - Genatlas - MID1 - - - HGNC - 7095 - - - OMIM - 300552 - - - Reactome - O15344 - - - SwissProt - O15344 - - - ClinVar - MID1 - - - - - Xp22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 217330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217330 - REN-related autosomal dominant tubulointerstitial kidney disease - - Clinical subtype - - - Subtype of disorder - - - - 21473025[PMID] - - renin - REN - - - - gene with protein product - - - - Ensembl - ENSG00000143839 - - - Genatlas - REN - - - HGNC - 9958 - - - IUPHAR - 2413 - - - OMIM - 179820 - - - Reactome - P00797 - - - SwissProt - P00797 - - - ClinVar - REN - - - - - 1q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1171 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1171 - Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome - - Disease - - - Disorder - - - - 24468074[PMID] - - ATPase Na+/K+ transporting subunit alpha 3 - ATP1A3 - - sodium pump subunit alpha-3 - sodium-potassium ATPase catalytic subunit alpha-3 - sodium/potassium-transporting ATPase subunit alpha-3 - - - gene with protein product - - - - ClinVar - ATP1A3 - - - IUPHAR - 835 - - - Ensembl - ENSG00000105409 - - - Genatlas - ATP1A3 - - - HGNC - 801 - - - OMIM - 182350 - - - Reactome - P13637 - - - SwissProt - P13637 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 217566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217566 - Chronic respiratory distress with surfactant metabolism deficiency - - Disease - - - Disorder - - - - 22018035[PMID]_20403820[PMID] - - surfactant protein C - SFTPC - - BRICD6 - BRICHOS domain containing 6 - PSP-C - SMDP2 - SP-C - - - gene with protein product - - - - ClinVar - SFTPC - - - Ensembl - ENSG00000168484 - - - Genatlas - SFTPC - - - HGNC - 10802 - - - OMIM - 178620 - - - Reactome - P11686 - - - SwissProt - P11686 - - - - - 8p21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 217563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217563 - Neonatal acute respiratory distress syndrome - - Disease - - - Disorder - - - - 23330012[PMID] - - surfactant protein B - SFTPB - - SP-B - - - gene with protein product - - - - ClinVar - SFTPB - - - Ensembl - ENSG00000168878 - - - Genatlas - SFTPB - - - HGNC - 10801 - - - OMIM - 178640 - - - Reactome - P07988 - - - SwissProt - P07988 - - - - - 2p11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 33110422[PMID]_15044640[PMID] - - ATP binding cassette subfamily A member 3 - ABCA3 - - ABC-C - EST111653 - LBM180 - - - gene with protein product - - - - ClinVar - ABCA3 - - - IUPHAR - 758 - - - Ensembl - ENSG00000167972 - - - Genatlas - ABCA3 - - - HGNC - 33 - - - OMIM - 601615 - - - Reactome - Q99758 - - - SwissProt - Q99758 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 217407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217407 - Hereditary hypotrichosis with recurrent skin vesicles - - Disease - - - Disorder - - - - 19765682[PMID] - - desmocollin 3 - DSC3 - - CDHF3 - DSC - DSC1 - DSC2 - - - gene with protein product - - - - Ensembl - ENSG00000134762 - - - Genatlas - DSC3 - - - HGNC - 3037 - - - OMIM - 600271 - - - SwissProt - Q14574 - - - Reactome - Q14574 - - - ClinVar - DSC3 - - - - - 18q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 217467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217467 - Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency - - Disease - - - Disorder - - - - 9414276[PMID] - - histidine rich glycoprotein - HRG - - HPRG - HRGP - histidine-proline rich glycoprotein - thrombophilia due to elevated HRG - - - gene with protein product - - - - Ensembl - ENSG00000113905 - - - Genatlas - HRG - - - HGNC - 5181 - - - OMIM - 142640 - - - Reactome - P04196 - - - SwissProt - P04196 - - - ClinVar - HRG - - - - - 3q27.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 217390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217390 - Combined immunodeficiency due to DOCK8 deficiency - - Disease - - - Disorder - - - - - - dedicator of cytokinesis 8 - DOCK8 - - FLJ00026 - FLJ00152 - FLJ00346 - ZIR8 - - - gene with protein product - - - - Ensembl - ENSG00000107099 - - - Genatlas - DOCK8 - - - HGNC - 19191 - - - OMIM - 611432 - - - Reactome - Q8NF50 - - - SwissProt - Q8NF50 - - - ClinVar - DOCK8 - - - - - 9p24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 217385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217385 - 17p13.3 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - 21195811[PMID] - - platelet activating factor acetylhydrolase 1b regulatory subunit 1 - PAFAH1B1 - - LIS1 - PAFAH - lissencephaly-1 - NudF - - - gene with protein product - - - - Ensembl - ENSG00000007168 - - - Genatlas - PAFAH1B1 - - - HGNC - 8574 - - - OMIM - 601545 - - - Reactome - P43034 - - - SwissProt - P43034 - - - ClinVar - PAFAH1B1 - - - - - 17p13.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 21195811[PMID] - - tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon - YWHAE - - 14-3-3 epsilon - FLJ45465 - - - gene with protein product - - - - ClinVar - YWHAE - - - Ensembl - ENSG00000108953 - - - Genatlas - YWHAE - - - HGNC - 12851 - - - OMIM - 605066 - - - Reactome - P62258 - - - SwissProt - P62258 - - - - - 17p13.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 217396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217396 - Progressive polyneuropathy with bilateral striatal necrosis - - Disease - - - Disorder - - - - 19798730[PMID] - - solute carrier family 25 member 19 - SLC25A19 - - DNC - MUP1 - TPC - Mitochondrial thiamine pyrophosphate carrier - mitochondrial uncoupling protein 1 - Deoxynucleotide carrier - - - gene with protein product - - - - Genatlas - SLC25A19 - - - HGNC - 14409 - - - OMIM - 606521 - - - SwissProt - Q9HC21 - - - ClinVar - SLC25A19 - - - Ensembl - ENSG00000125454 - - - IUPHAR - 1073 - - - Reactome - Q9HC21 - - - - - 17q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 217371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217371 - Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins - - Disease - - - Disorder - - - - 19732863[PMID] - - tRNA mitochondrial 2-thiouridylase - TRMU - - FLJ10140 - MTO2 - MTU1 - mitochondrial tRNA-specific 2-thiouridylase 1 - - - gene with protein product - - - - ClinVar - TRMU - - - Ensembl - ENSG00000100416 - - - Genatlas - TRMU - - - HGNC - 25481 - - - OMIM - 610230 - - - Reactome - O75648 - - - SwissProt - O75648 - - - - - 22q13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 217382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217382 - Neurodegenerative syndrome due to cerebral folate transport deficiency - - Disease - - - Disorder - - - - 19732866[PMID] - - folate receptor 1 - FOLR1 - - FRa - folate receptor alpha - - - gene with protein product - - - - Reactome - P15328 - - - SwissProt - P15328 - - - Ensembl - ENSG00000110195 - - - Genatlas - FOLR1 - - - HGNC - 3791 - - - OMIM - 136430 - - - IUPHAR - 3212 - - - ClinVar - FOLR1 - - - - - 11q13.4 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 217377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217377 - Microduplication Xp11.22p11.23 syndrome - - Malformation syndrome - - - Disorder - - - - 26059843[PMID] - - IQ motif and Sec7 domain ArfGEF 2 - IQSEC2 - - brefeldin A resistant Arf-guanine nucleotide exchange factor 1 - KIAA0522 - BRAG1 - IQ-ArfGEF - - - gene with protein product - - - - Ensembl - ENSG00000124313 - - - Genatlas - IQSEC2 - - - HGNC - 29059 - - - OMIM - 300522 - - - SwissProt - Q5JU85 - - - ClinVar - IQSEC2 - - - - - Xp11.22 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 217622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217622 - Sensorineural deafness with dilated cardiomyopathy - - Disease - - - Disorder - - - - 15735644[PMID] - - EYA transcriptional coactivator and phosphatase 4 - EYA4 - - - - gene with protein product - - - - ClinVar - EYA4 - - - Ensembl - ENSG00000112319 - - - Genatlas - EYA4 - - - HGNC - 3522 - - - OMIM - 603550 - - - Reactome - O95677 - - - SwissProt - O95677 - - - - - 6q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 331 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331 - Congenital factor XIII deficiency - - Disease - - - Disorder - - - - 21738029[PMID] - - coagulation factor XIII A chain - F13A1 - - - - gene with protein product - - - - ClinVar - F13A1 - - - Ensembl - ENSG00000124491 - - - Genatlas - F13A1 - - - HGNC - 3531 - - - OMIM - 134570 - - - Reactome - P00488 - - - SwissProt - P00488 - - - - - 6p25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21738029[PMID] - - coagulation factor XIII B chain - F13B - - FXIIIB - - - gene with protein product - - - - ClinVar - F13B - - - Ensembl - ENSG00000143278 - - - Genatlas - F13B - - - HGNC - 3534 - - - OMIM - 134580 - - - Reactome - P05160 - - - SwissProt - P05160 - - - - - 1q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=159 - Carnitine-acylcarnitine translocase deficiency - - Disease - - - Disorder - - - - - - solute carrier family 25 member 20 - SLC25A20 - - CAC - carnitine-acylcarnitine carrier - carnitine/acylcarnitine translocase - Mitochondrial carnitine/acylcarnitine carrier protein - - - gene with protein product - - - - IUPHAR - 1076 - - - Ensembl - ENSG00000178537 - - - Genatlas - SLC25A20 - - - HGNC - 1421 - - - OMIM - 613698 - - - Reactome - O43772 - - - SwissProt - O43772 - - - ClinVar - SLC25A20 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79 - Congenital alpha2-antiplasmin deficiency - - Disease - - - Disorder - - - - 17961166[PMID]_11472338[PMID] - - serpin family F member 2 - SERPINF2 - - A2AP - AAP - ALPHA-2-PI - API - alpha-2-antiplasmin - alpha-2-plasmin inhibitor - alpha2AP - - - gene with protein product - - - - ClinVar - SERPINF2 - - - Ensembl - ENSG00000167711 - - - Genatlas - SERPINF2 - - - HGNC - 9075 - - - OMIM - 613168 - - - Reactome - P08697 - - - SwissProt - P08697 - - - - - 17p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2157 - Histidinemia - - Disease - - - Disorder - - - - 15806399[PMID] - - histidine ammonia-lyase - HAL - - - - gene with protein product - - - - ClinVar - HAL - - - Ensembl - ENSG00000084110 - - - Genatlas - HAL - - - HGNC - 4806 - - - OMIM - 609457 - - - Reactome - P42357 - - - SwissProt - P42357 - - - - - 12q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 220402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220402 - Limited cutaneous systemic sclerosis - - Clinical subtype - - - Subtype of disorder - - - - 22402147[PMID] - - caveolin 1 - CAV1 - - - - gene with protein product - - - - Ensembl - ENSG00000105974 - - - Genatlas - CAV1 - - - HGNC - 1527 - - - OMIM - 601047 - - - Reactome - Q03135 - - - SwissProt - Q03135 - - - ClinVar - CAV1 - - - - - 7q31.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - major histocompatibility complex, class II, DR beta 1 - HLA-DRB1 - - - - gene with protein product - - - - ClinVar - HLA-DRB1 - - - Ensembl - ENSG00000196126 - - - Genatlas - HLA-DRB1 - - - HGNC - 4948 - - - OMIM - 142857 - - - Reactome - P04229 - - - SwissProt - P01911 - - - - - 6p21.32 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - cellular communication network factor 2 - CCN2 - - CCN2 - IGFBP8 - - - gene with protein product - - - - ClinVar - CTGF - - - Ensembl - ENSG00000118523 - - - Genatlas - CTGF - - - HGNC - 2500 - - - OMIM - 121009 - - - Reactome - P29279 - - - SwissProt - P29279 - - - - - 6q23.2 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - 23372721[PMID] - - interferon regulatory factor 5 - IRF5 - - IRF-5 - - - gene with protein product - - - - ClinVar - IRF5 - - - Ensembl - ENSG00000128604 - - - Genatlas - IRF5 - - - HGNC - 6120 - - - OMIM - 607218 - - - Reactome - Q13568 - - - SwissProt - Q13568 - - - - - 7q32.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23740937[PMID] - - KIAA0319 like - KIAA0319L - - AAVR - AAV receptor - KIAA1837 - - - gene with protein product - - - - Reactome - Q8IZA0 - - - ClinVar - KIAA0319L - - - Ensembl - ENSG00000142687 - - - Genatlas - KIAA0319L - - - HGNC - 30071 - - - OMIM - 613535 - - - SwissProt - Q8IZA0 - - - - - 1p34.3 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - 23983073[PMID] - - C-C motif chemokine receptor 6 - CCR6 - - BN-1 - CD196 - CKR-L3 - CMKBR6 - DCR2 - DRY-6 - GPR-CY4 - GPR29 - - - gene with protein product - - - - ClinVar - CCR6 - - - Reactome - P51684 - - - SwissProt - P51684 - - - Ensembl - ENSG00000112486 - - - Genatlas - CCR6 - - - HGNC - 1607 - - - IUPHAR - 63 - - - OMIM - 601835 - - - - - 6q27 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 3124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3124 - Saccharopinuria - - Disease - - - Disorder - - - - 10775527[PMID]_23570448[PMID] - - aminoadipate-semialdehyde synthase - AASS - - saccharopine dehydrogenase (NADP(+), L-lysine-forming) - saccharopine dehydrogenase (NAD(+), L-glutamate-forming) - LKR/SDH - LKRSDH - LORSDH - lysine ketoglutarate reductase/saccharopine dehydrogenase - alpha-aminoadipic semialdehyde synthase - - - gene with protein product - - - - Ensembl - ENSG00000008311 - - - Genatlas - AASS - - - HGNC - 17366 - - - OMIM - 605113 - - - Reactome - Q9UDR5 - - - SwissProt - Q9UDR5 - - - ClinVar - AASS - - - - - 7q31.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 220407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220407 - Limited systemic sclerosis - - Clinical subtype - - - Subtype of disorder - - - - - - major histocompatibility complex, class II, DR beta 1 - HLA-DRB1 - - - - gene with protein product - - - - ClinVar - HLA-DRB1 - - - Ensembl - ENSG00000196126 - - - Genatlas - HLA-DRB1 - - - HGNC - 4948 - - - OMIM - 142857 - - - Reactome - P04229 - - - SwissProt - P01911 - - - - - 6p21.32 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - 220386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220386 - Semilobar holoprosencephaly - - Clinical subtype - - - Subtype of disorder - - - - 31334757[PMID] - - STAG2 cohesin complex component - STAG2 - - sister chromatid cohesion 3 homolog (S. cerevisiae) B - SA2 stromalin - SA2 - SCC3B - SA-2 - Cohesin subunit SA-2 - - - gene with protein product - - - - Genatlas - STAG2 - - - OMIM - 300826 - - - SwissProt - Q8N3U4 - - - ClinVar - STAG2 - - - Ensembl - ENSG00000101972 - - - Reactome - Q8N3U4 - - - HGNC - 11355 - - - - - Xq25 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 27363716[PMID] - - fibroblast growth factor receptor 1 - FGFR1 - - BFGFR - CD331 - CEK - FLG - H2 - H3 - H4 - H5 - N-SAM - Pfeiffer syndrome - - - gene with protein product - - - - Ensembl - ENSG00000077782 - - - Genatlas - FGFR1 - - - HGNC - 3688 - - - IUPHAR - 1808 - - - OMIM - 136350 - - - Reactome - P11362 - - - SwissProt - P11362 - - - ClinVar - FGFR1 - - - - - 8p11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31334757[PMID] - - structural maintenance of chromosomes 1A - SMC1A - - DXS423E - KIAA0178 - SB1.8 - Smcb - - - gene with protein product - - - - ClinVar - SMC1A - - - Ensembl - ENSG00000072501 - - - Genatlas - SMC1A - - - HGNC - 11111 - - - OMIM - 300040 - - - Reactome - Q14683 - - - SwissProt - Q14683 - - - - - Xp11.22 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 29785796[PMID] - - STIL centriolar assembly protein - STIL - - MCPH7 - - - gene with protein product - - - - ClinVar - STIL - - - Reactome - Q15468 - - - Ensembl - ENSG00000123473 - - - Genatlas - STIL - - - HGNC - 10879 - - - OMIM - 181590 - - - SwissProt - Q15468 - - - - - 1p33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - patched 1 - PTCH1 - - BCNS - SLC65B1 - - - gene with protein product - - - - ClinVar - PTCH1 - - - Ensembl - ENSG00000185920 - - - Genatlas - PTCH1 - - - HGNC - 9585 - - - OMIM - 601309 - - - Reactome - Q13635 - - - SwissProt - Q13635 - - - - - 9q22.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - sonic hedgehog signaling molecule - SHH - - HHG1 - MCOPCB5 - SMMCI - TPT - TPTPS - - - gene with protein product - - - - ClinVar - SHH - - - Ensembl - ENSG00000164690 - - - Genatlas - SHH - - - HGNC - 10848 - - - OMIM - 600725 - - - Reactome - Q15465 - - - SwissProt - Q15465 - - - - - 7q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - SIX homeobox 3 - SIX3 - - - - gene with protein product - - - - Ensembl - ENSG00000138083 - - - Genatlas - SIX3 - - - HGNC - 10889 - - - OMIM - 603714 - - - SwissProt - O95343 - - - ClinVar - SIX3 - - - Reactome - O95343 - - - - - 2p21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - TGFB induced factor homeobox 1 - TGIF1 - - - - gene with protein product - - - - ClinVar - TGIF1 - - - Ensembl - ENSG00000177426 - - - Genatlas - TGIF1 - - - HGNC - 11776 - - - OMIM - 602630 - - - Reactome - Q15583 - - - SwissProt - Q15583 - - - - - 18p11.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - Zic family member 2 - ZIC2 - - HPE5 - Zinc finger protein of the cerebellum 2 - - - gene with protein product - - - - ClinVar - ZIC2 - - - Ensembl - ENSG00000043355 - - - Genatlas - ZIC2 - - - HGNC - 12873 - - - OMIM - 603073 - - - SwissProt - O95409 - - - - - 13q32.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - GLI family zinc finger 2 - GLI2 - - HPE9 - THP1 - THP2 - tax helper protein 1 - tax helper protein 2 - tax-responsive element-2 holding protein - - - gene with protein product - - - - Ensembl - ENSG00000074047 - - - Genatlas - GLI2 - - - HGNC - 4318 - - - OMIM - 165230 - - - Reactome - P10070 - - - SwissProt - P10070 - - - ClinVar - GLI2 - - - - - 2q14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - cripto, EGF-CFC family member - CRIPTO - - CR - Cripto-1 - CR-1 - - - gene with protein product - - - - Reactome - P13385 - - - SwissProt - P13385 - - - Ensembl - ENSG00000241186 - - - Genatlas - TDGF1 - - - HGNC - 11701 - - - OMIM - 187395 - - - ClinVar - TDGF1 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - forkhead box H1 - FOXH1 - - FAST1 - forkhead activin signal transducer-1 - - - gene with protein product - - - - ClinVar - FOXH1 - - - Ensembl - ENSG00000160973 - - - Genatlas - FOXH1 - - - HGNC - 3814 - - - OMIM - 603621 - - - Reactome - O75593 - - - SwissProt - O75593 - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - fibroblast growth factor 8 - FGF8 - - AIGF - androgen-induced growth factor - - - gene with protein product - - - - SwissProt - P55075 - - - Ensembl - ENSG00000107831 - - - Genatlas - FGF8 - - - HGNC - 3686 - - - OMIM - 600483 - - - Reactome - P55075 - - - ClinVar - FGF8 - - - - - 10q24.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - dispatched RND transporter family member 1 - DISP1 - - DISPA - DKFZP434I0428 - MGC13130 - MGC16796 - - - gene with protein product - - - - Ensembl - ENSG00000154309 - - - Genatlas - DISP1 - - - HGNC - 19711 - - - OMIM - 607502 - - - SwissProt - Q96F81 - - - ClinVar - DISP1 - - - - - 1q41 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - cell adhesion associated, oncogene regulated - CDON - - CDO - CDON1 - ORCAM - cell adhesion molecule-related/down-regulated by oncogenes - Ihog - - - gene with protein product - - - - Ensembl - ENSG00000064309 - - - ClinVar - CDON - - - Genatlas - CDON - - - HGNC - 17104 - - - OMIM - 608707 - - - Reactome - Q4KMG0 - - - SwissProt - Q4KMG0 - - - - - 11q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - nodal growth differentiation factor - NODAL - - - - gene with protein product - - - - ClinVar - NODAL - - - Ensembl - ENSG00000156574 - - - Genatlas - NODAL - - - HGNC - 7865 - - - OMIM - 601265 - - - Reactome - Q96S42 - - - SwissProt - Q96S42 - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - delta like canonical Notch ligand 1 - DLL1 - - - - gene with protein product - - - - ClinVar - DLL1 - - - Ensembl - ENSG00000198719 - - - Genatlas - DLL1 - - - HGNC - 2908 - - - OMIM - 606582 - - - Reactome - O00548 - - - SwissProt - O00548 - - - - - 6q27 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - growth arrest specific 1 - GAS1 - - Growth arrest-specific gene-1 - - - gene with protein product - - - - ClinVar - GAS1 - - - Ensembl - ENSG00000180447 - - - Genatlas - GAS1 - - - HGNC - 4165 - - - OMIM - 139185 - - - Reactome - P54826 - - - SwissProt - P54826 - - - - - 9q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2203 - Hyperlysinemia - - Disease - - - Disorder - - - - 23570448[PMID]_23890588[PMID]_10775527[PMID] - - aminoadipate-semialdehyde synthase - AASS - - saccharopine dehydrogenase (NADP(+), L-lysine-forming) - saccharopine dehydrogenase (NAD(+), L-glutamate-forming) - LKR/SDH - LKRSDH - LORSDH - lysine ketoglutarate reductase/saccharopine dehydrogenase - alpha-aminoadipic semialdehyde synthase - - - gene with protein product - - - - Ensembl - ENSG00000008311 - - - Genatlas - AASS - - - HGNC - 17366 - - - OMIM - 605113 - - - Reactome - Q9UDR5 - - - SwissProt - Q9UDR5 - - - ClinVar - AASS - - - - - 7q31.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 220393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220393 - Diffuse cutaneous systemic sclerosis - - Clinical subtype - - - Subtype of disorder - - - - 22402147[PMID] - - caveolin 1 - CAV1 - - - - gene with protein product - - - - Ensembl - ENSG00000105974 - - - Genatlas - CAV1 - - - HGNC - 1527 - - - OMIM - 601047 - - - Reactome - Q03135 - - - SwissProt - Q03135 - - - ClinVar - CAV1 - - - - - 7q31.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - major histocompatibility complex, class II, DR beta 1 - HLA-DRB1 - - - - gene with protein product - - - - ClinVar - HLA-DRB1 - - - Ensembl - ENSG00000196126 - - - Genatlas - HLA-DRB1 - - - HGNC - 4948 - - - OMIM - 142857 - - - Reactome - P04229 - - - SwissProt - P01911 - - - - - 6p21.32 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - cellular communication network factor 2 - CCN2 - - CCN2 - IGFBP8 - - - gene with protein product - - - - ClinVar - CTGF - - - Ensembl - ENSG00000118523 - - - Genatlas - CTGF - - - HGNC - 2500 - - - OMIM - 121009 - - - Reactome - P29279 - - - SwissProt - P29279 - - - - - 6q23.2 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - 23372721[PMID] - - interferon regulatory factor 5 - IRF5 - - IRF-5 - - - gene with protein product - - - - ClinVar - IRF5 - - - Ensembl - ENSG00000128604 - - - Genatlas - IRF5 - - - HGNC - 6120 - - - OMIM - 607218 - - - Reactome - Q13568 - - - SwissProt - Q13568 - - - - - 7q32.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23983073[PMID] - - C-C motif chemokine receptor 6 - CCR6 - - BN-1 - CD196 - CKR-L3 - CMKBR6 - DCR2 - DRY-6 - GPR-CY4 - GPR29 - - - gene with protein product - - - - ClinVar - CCR6 - - - Reactome - P51684 - - - SwissProt - P51684 - - - Ensembl - ENSG00000112486 - - - Genatlas - CCR6 - - - HGNC - 1607 - - - IUPHAR - 63 - - - OMIM - 601835 - - - - - 6q27 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=332 - Congenital intrinsic factor deficiency - - Disease - - - Disorder - - - - 14695536[PMID] - - cobalamin binding intrinsic factor - CBLIF - - IF - IFMH - INF - TCN3 - - - gene with protein product - - - - ClinVar - GIF - - - OMIM - 609342 - - - Reactome - P27352 - - - SwissProt - P27352 - - - Ensembl - ENSG00000134812 - - - Genatlas - GIF - - - HGNC - 4268 - - - - - 11q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 220436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220436 - Quebec platelet disorder - - Disease - - - Disorder - - - - 20007542[PMID] - - plasminogen activator, urokinase - PLAU - - UPA - URK - - - gene with protein product - - - - Reactome - P00749 - - - SwissProt - P00749 - - - Ensembl - ENSG00000122861 - - - Genatlas - PLAU - - - HGNC - 9052 - - - IUPHAR - 2393 - - - OMIM - 191840 - - - ClinVar - PLAU - - - - - 10q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2195 - Dicarboxylic aminoaciduria - - Disease - - - Disorder - - - - 21123949[PMID] - - solute carrier family 1 member 1 - SLC1A1 - - EAAC1 - EAAT3 - hEAAC1 - Excitatory amino acid transporter 3 - excitatory amino acid carrier 1 - - - gene with protein product - - - - ClinVar - SLC1A1 - - - IUPHAR - 870 - - - Ensembl - ENSG00000106688 - - - Genatlas - SLC1A1 - - - HGNC - 10939 - - - OMIM - 133550 - - - Reactome - P43005 - - - SwissProt - P43005 - - - - - 9p24.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 220443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220443 - Bleeding diathesis due to thromboxane synthesis deficiency - - Disease - - - Disorder - - - - - - thromboxane A2 receptor - TBXA2R - - - - gene with protein product - - - - IUPHAR - 346 - - - OMIM - 188070 - - - Reactome - P21731 - - - SwissProt - P21731 - - - Ensembl - ENSG00000006638 - - - Genatlas - TBXA2R - - - HGNC - 11608 - - - ClinVar - TBXA2R - - - - - 19p13.3 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - 2170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2170 - Methylcobalamin deficiency type cblG - - Clinical subtype - - - Subtype of disorder - - - - 20301503[PMID] - - 5-methyltetrahydrofolate-homocysteine methyltransferase - MTR - - cblG - Methionine synthase - - - gene with protein product - - - - ClinVar - MTR - - - SwissProt - Q99707 - - - IUPHAR - 3099 - - - Ensembl - ENSG00000116984 - - - Genatlas - MTR - - - HGNC - 7468 - - - OMIM - 156570 - - - Reactome - Q99707 - - - - - 1q43 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 220295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295 - Xeroderma pigmentosum-Cockayne syndrome complex - - Disease - - - Disorder - - - - 20301571[PMID] - - ERCC excision repair 5, endonuclease - ERCC5 - - Cockayne syndrome - - - gene with protein product - - - - Genatlas - ERCC5 - - - HGNC - 3437 - - - OMIM - 133530 - - - Reactome - P28715 - - - SwissProt - P28715 - - - Ensembl - ENSG00000134899 - - - ClinVar - ERCC5 - - - - - 13q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301571[PMID] - - ERCC excision repair 4, endonuclease catalytic subunit - ERCC4 - - FANCQ - RAD1 - xeroderma pigmentosum, complementation group F - - - gene with protein product - - - - ClinVar - ERCC4 - - - HGNC - 3436 - - - OMIM - 133520 - - - Reactome - Q92889 - - - SwissProt - Q92889 - - - Ensembl - ENSG00000175595 - - - Genatlas - ERCC4 - - - - - 16p13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301571[PMID] - - ERCC excision repair 2, TFIIH core complex helicase subunit - ERCC2 - - EM9 - MAG - MGC102762 - MGC126218 - MGC126219 - TFIIH - TFIIH basal transcription factor complex helicase XPB subunit - excision repair cross-complementing rodent repair deficiency, complementation group 2 protein - - - gene with protein product - - - - ClinVar - ERCC2 - - - Ensembl - ENSG00000104884 - - - Genatlas - ERCC2 - - - HGNC - 3434 - - - OMIM - 126340 - - - Reactome - P18074 - - - SwissProt - P18074 - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301571[PMID] - - ERCC excision repair 3, TFIIH core complex helicase subunit - ERCC3 - - BTF2 - GTF2H - RAD25 - TFIIH - XPB - xeroderma pigmentosum group B complementing - Ssl2 - - - gene with protein product - - - - Ensembl - ENSG00000163161 - - - Genatlas - ERCC3 - - - HGNC - 3435 - - - OMIM - 133510 - - - Reactome - P19447 - - - SwissProt - P19447 - - - ClinVar - ERCC3 - - - - - 2q14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=414 - Gyrate atrophy of choroid and retina - - Disease - - - Disorder - - - - 23076989[PMID] - - ornithine aminotransferase - OAT - - HOGA - Ornithine aminotransferase - gyrate atrophy - ornithine aminotransferase precursor - - - gene with protein product - - - - ClinVar - OAT - - - Ensembl - ENSG00000065154 - - - Genatlas - OAT - - - HGNC - 8091 - - - OMIM - 613349 - - - Reactome - P04181 - - - SwissProt - P04181 - - - - - 10q26.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=927 - Hyperammonemia due to N-acetylglutamate synthase deficiency - - Disease - - - Disorder - - - - 20301316[PMID] - - N-acetylglutamate synthase - NAGS - - AGAS - ARGA - NAT7 - - - gene with protein product - - - - SwissProt - Q8N159 - - - Ensembl - ENSG00000161653 - - - Genatlas - NAGS - - - HGNC - 17996 - - - OMIM - 608300 - - - Reactome - Q8N159 - - - ClinVar - NAGS - - - - - 17q21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2880 - Phosphoenolpyruvate carboxykinase deficiency - - Disease - - - Disorder - - - - - - phosphoenolpyruvate carboxykinase 1 - PCK1 - - PEPCK-C - - - gene with protein product - - - - Ensembl - ENSG00000124253 - - - Genatlas - PCK1 - - - HGNC - 8724 - - - OMIM - 614168 - - - Reactome - P35558 - - - SwissProt - P35558 - - - ClinVar - PCK1 - - - - - 20q13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 2044592[PMID] - - phosphoenolpyruvate carboxykinase 2, mitochondrial - PCK2 - - PEPCK - PEPCK2 - - - gene with protein product - - - - Ensembl - ENSG00000100889 - - - Genatlas - PCK2 - - - HGNC - 8725 - - - OMIM - 614095 - - - Reactome - Q16822 - - - SwissProt - Q16822 - - - ClinVar - PCK2 - - - - - 14q11.2-q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=941 - D-glyceric aciduria - - Disease - - - Disorder - - - - 20949620[PMID] - - glycerate kinase - GLYCTK - - HBEBP2 - HBEBP4 - - - gene with protein product - - - - ClinVar - GLYCTK - - - OMIM - 610516 - - - SwissProt - Q8IVS8 - - - Ensembl - ENSG00000168237 - - - Genatlas - GLYCTK - - - HGNC - 24247 - - - Reactome - Q8IVS8 - - - - - 3p21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 220465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220465 - Laron syndrome with immunodeficiency - - Disease - - - Disorder - - - - 22419735[PMID] - - signal transducer and activator of transcription 5B - STAT5B - - - - gene with protein product - - - - Ensembl - ENSG00000173757 - - - Genatlas - STAT5B - - - HGNC - 11367 - - - OMIM - 604260 - - - Reactome - P51692 - - - SwissProt - P51692 - - - ClinVar - STAT5B - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 220460 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220460 - Attenuated familial adenomatous polyposis - - Disease - - - Disorder - - - - 17489848[PMID] - - APC regulator of WNT signaling pathway - APC - - DP2 - DP2.5 - DP3 - PPP1R46 - protein phosphatase 1, regulatory subunit 46 - - - gene with protein product - - - - Ensembl - ENSG00000134982 - - - Genatlas - APC - - - HGNC - 583 - - - OMIM - 611731 - - - Reactome - P25054 - - - SwissProt - P25054 - - - ClinVar - APC - - - - - 5q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2843 - Pentosuria - - Disease - - - Disorder - - - - 22042873[PMID] - - dicarbonyl and L-xylulose reductase - DCXR - - DCR - KIDCR - SDR20C1 - short chain dehydrogenase/reductase family 20C, member 1 - kidney dicarbonyl reductase - sperm surface protein P34H - P34H - human carbonyl reductase 2 - HCR2 - - - gene with protein product - - - - ClinVar - DCXR - - - Ensembl - ENSG00000169738 - - - Genatlas - DCXR - - - HGNC - 18985 - - - OMIM - 608347 - - - Reactome - Q7Z4W1 - - - SwissProt - Q7Z4W1 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 220497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220497 - Joubert syndrome with renal defect - - Malformation syndrome - - - Disorder - - - - 20615230[PMID]_20301500[PMID] - - nephrocystin 1 - NPHP1 - - JBTS4 - SLSN1 - - - gene with protein product - - - - ClinVar - NPHP1 - - - Ensembl - ENSG00000144061 - - - Genatlas - NPHP1 - - - HGNC - 7905 - - - OMIM - 607100 - - - Reactome - O15259 - - - SwissProt - O15259 - - - - - 2q13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20615230[PMID]_20301500[PMID] - - RPGRIP1 like - RPGRIP1L - - CORS3 - FTM - JBTS7 - KIAA1005 - MKS5 - Meckel syndrome, type 5 - NPHP8 - PPP1R134 - fantom homolog - protein phosphatase 1, regulatory subunit 134 - - - gene with protein product - - - - ClinVar - RPGRIP1L - - - Ensembl - ENSG00000103494 - - - Genatlas - RPGRIP1L - - - HGNC - 29168 - - - OMIM - 610937 - - - Reactome - Q68CZ1 - - - SwissProt - Q68CZ1 - - - - - 16q12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301500[PMID]_22152675[PMID] - - transmembrane protein 237 - TMEM237 - - JBTS14 - - - gene with protein product - - - - Ensembl - ENSG00000155755 - - - Genatlas - TMEM237 - - - HGNC - 14432 - - - OMIM - 614423 - - - SwissProt - Q96Q45 - - - ClinVar - TMEM237 - - - - - 2q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=212 - Cystathioninuria - - Disease - - - Disorder - - - - 20584029[PMID]_19428278[PMID] - - cystathionine gamma-lyase - CTH - - CSE - - - gene with protein product - - - - IUPHAR - 1444 - - - ClinVar - CTH - - - Ensembl - ENSG00000116761 - - - Genatlas - CTH - - - HGNC - 2501 - - - OMIM - 607657 - - - Reactome - P32929 - - - SwissProt - P32929 - - - - - 1p31.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 220493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220493 - Joubert syndrome with ocular defect - - Malformation syndrome - - - Disorder - - - - 20615230[PMID]_20301500[PMID] - - Abelson helper integration site 1 - AHI1 - - FLJ20069 - JBTS3 - Jouberin - ORF1 - - - gene with protein product - - - - Ensembl - ENSG00000135541 - - - Genatlas - AHI1 - - - HGNC - 21575 - - - OMIM - 608894 - - - Reactome - Q8N157 - - - SwissProt - Q8N157 - - - ClinVar - AHI1 - - - - - 6q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24886560[PMID] - - MKS transition zone complex subunit 1 - MKS1 - - BBS13 - FLJ20345 - POC12 - POC12 centriolar protein homolog (Chlamydomonas) - - - gene with protein product - - - - Ensembl - ENSG00000011143 - - - ClinVar - MKS1 - - - Genatlas - MKS1 - - - HGNC - 7121 - - - OMIM - 609883 - - - Reactome - Q9NXB0 - - - SwissProt - Q9NXB0 - - - - - 17q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23386033[PMID]_19668216[PMID]_20301500[PMID] - - inositol polyphosphate-5-phosphatase E - INPP5E - - CORS1 - PPI5PIV - pharbin - Phosphatidylinositol polyphosphate 5-phosphatase type IV - - - gene with protein product - - - - Ensembl - ENSG00000148384 - - - Genatlas - INPP5E - - - HGNC - 21474 - - - OMIM - 613037 - - - Reactome - Q9NRR6 - - - SwissProt - Q9NRR6 - - - ClinVar - INPP5E - - - IUPHAR - 1456 - - - - - 9q34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301500[PMID]_22246503[PMID] - - centrosomal protein 41 - CEP41 - - DKFZp762H1311 - FLJ22445 - JBTS15 - - - gene with protein product - - - - Ensembl - ENSG00000106477 - - - Genatlas - CEP41 - - - HGNC - 12370 - - - OMIM - 610523 - - - Reactome - Q9BYV8 - - - SwissProt - Q9BYV8 - - - ClinVar - CEP41 - - - - - 7q32.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 27208211[PMID] - - centrosomal protein 120 - CEP120 - - FLJ36090 - - - gene with protein product - - - - ClinVar - CEP120 - - - Ensembl - ENSG00000168944 - - - Genatlas - CEP120 - - - HGNC - 26690 - - - OMIM - 613446 - - - SwissProt - Q8N960 - - - - - 5q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=470 - Lysinuric protein intolerance - - Disease - - - Disorder - - - - 20301535[PMID] - - solute carrier family 7 member 7 - SLC7A7 - - y+LAT-1 - Y+LAT1 - Y+L amino acid transporter 1 - - - gene with protein product - - - - ClinVar - SLC7A7 - - - IUPHAR - 898 - - - Ensembl - ENSG00000155465 - - - Genatlas - SLC7A7 - - - HGNC - 11065 - - - OMIM - 603593 - - - Reactome - Q9UM01 - - - SwissProt - Q9UM01 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=145 - Hereditary breast and/or ovarian cancer syndrome - - Disease - - - Disorder - - - - 23779253[PMID] - - phosphatase and tensin homolog - PTEN - - MMAC1 - PTEN1 - TEP1 - mutated in multiple advanced cancers 1 - Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN - - - gene with protein product - - - - IUPHAR - 2497 - - - ClinVar - PTEN - - - HGNC - 9588 - - - OMIM - 601728 - - - Reactome - P60484 - - - SwissProt - P60484 - - - Ensembl - ENSG00000171862 - - - Genatlas - PTEN - - - - - 10q23.31 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 10807537[PMID]_24114315[PMID] - - RAD51 recombinase - RAD51 - - BRCA1/BRCA2-containing complex, subunit 5 - BRCC5 - FANCR - HsRad51 - HsT16930 - - - gene with protein product - - - - ClinVar - RAD51 - - - Ensembl - ENSG00000051180 - - - Genatlas - RAD51 - - - HGNC - 9817 - - - OMIM - 179617 - - - Reactome - Q06609 - - - SwissProt - Q06609 - - - - - 15q15.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 16112002[PMID]_20301425[PMID] - - BRCA2 DNA repair associated - BRCA2 - - BRCA1/BRCA2-containing complex, subunit 2 - BRCC2 - FAD - FAD1 - XRCC11 - - - gene with protein product - - - - SwissProt - P51587 - - - Ensembl - ENSG00000139618 - - - Genatlas - BRCA2 - - - HGNC - 1101 - - - OMIM - 600185 - - - Reactome - P51587 - - - ClinVar - BRCA2 - - - - - 13q13.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 17033622[PMID] - - BRCA1 interacting DNA helicase 1 - BRIP1 - - BACH1 - BRCA1/BRCA2-associated helicase 1 - FANCJ - OF - FANCJ helicase - BRCA1 interacting protein 1 - BRCA1-associated C-terminal helicase - - - gene with protein product - - - - Ensembl - ENSG00000136492 - - - Genatlas - BRIP1 - - - HGNC - 20473 - - - OMIM - 605882 - - - Reactome - Q9BX63 - - - SwissProt - Q9BX63 - - - ClinVar - BRIP1 - - - - - 17q23.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 21562711[PMID] - - checkpoint kinase 2 - CHEK2 - - CDS1 - CHK2 - HuCds1 - PP1425 - bA444G7 - - - gene with protein product - - - - Ensembl - ENSG00000183765 - - - Genatlas - CHEK2 - - - HGNC - 16627 - - - IUPHAR - 1988 - - - OMIM - 604373 - - - Reactome - O96017 - - - SwissProt - O96017 - - - ClinVar - CHEK2 - - - - - 22q12.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 24884479[PMID]_23779253[PMID] - - tumor protein p53 - TP53 - - LFS1 - Li-Fraumeni syndrome - P53 - p53 - - - gene with protein product - - - - Ensembl - ENSG00000141510 - - - Genatlas - TP53 - - - HGNC - 11998 - - - OMIM - 191170 - - - Reactome - P04637 - - - SwissProt - P04637 - - - ClinVar - TP53 - - - - - 17p13.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 22006311[PMID]_14684699[PMID] - - MRE11 homolog, double strand break repair nuclease - MRE11 - - AT-like disease - ATLD - - - gene with protein product - - - - ClinVar - MRE11A - - - Ensembl - ENSG00000020922 - - - Genatlas - MRE11A - - - HGNC - 7230 - - - OMIM - 600814 - - - Reactome - P49959 - - - SwissProt - P49959 - - - - - 11q21 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 22006311[PMID]_14684699[PMID] - - nibrin - NBN - - AT-V1 - AT-V2 - ATV - - - gene with protein product - - - - Ensembl - ENSG00000104320 - - - Genatlas - NBN - - - HGNC - 7652 - - - OMIM - 602667 - - - Reactome - O60934 - - - SwissProt - O60934 - - - ClinVar - NBN - - - - - 8q21.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 23779253[PMID] - - partner and localizer of BRCA2 - PALB2 - - Fanconi anemia, complementation group N - FANCN - FLJ21816 - - - gene with protein product - - - - ClinVar - PALB2 - - - Ensembl - ENSG00000083093 - - - Genatlas - PALB2 - - - HGNC - 26144 - - - OMIM - 610355 - - - Reactome - Q86YC2 - - - SwissProt - Q86YC2 - - - - - 16p12.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 15342711[PMID] - - BRCA1 associated RING domain 1 - BARD1 - - - - gene with protein product - - - - ClinVar - BARD1 - - - Ensembl - ENSG00000138376 - - - Genatlas - BARD1 - - - HGNC - 952 - - - OMIM - 601593 - - - Reactome - Q99728 - - - SwissProt - Q99728 - - - - - 2q35 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 20400964[PMID]_21990120[PMID] - - RAD51 paralog C - RAD51C - - FANCO - RAD51L2 - - - gene with protein product - - - - ClinVar - RAD51C - - - Ensembl - ENSG00000108384 - - - Genatlas - RAD51C - - - HGNC - 9820 - - - OMIM - 602774 - - - Reactome - O43502 - - - SwissProt - O43502 - - - - - 17q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22006311[PMID]_14684699[PMID] - - RAD50 double strand break repair protein - RAD50 - - RAD50-2 - hRad50 - - - gene with protein product - - - - Reactome - Q92878 - - - SwissProt - Q92878 - - - Ensembl - ENSG00000113522 - - - Genatlas - RAD50 - - - HGNC - 9816 - - - OMIM - 604040 - - - ClinVar - RAD50 - - - - - 5q31.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 21822267[PMID] - - RAD51 paralog D - RAD51D - - DNA repair protein RAD51 homolog 4 - HsTRAD - R51H3 - Recombination repair protein - Trad - recombination repair protein - - - gene with protein product - - - - Ensembl - ENSG00000185379 - - - Genatlas - RAD51D - - - HGNC - 9823 - - - OMIM - 602954 - - - Reactome - O75771 - - - SwissProt - O75771 - - - ClinVar - RAD51D - - - - - 17q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16112002[PMID]_20301425[PMID] - - BRCA1 DNA repair associated - BRCA1 - - BRCA1/BRCA2-containing complex, subunit 1 - BRCC1 - FANCS - Fanconi anemia, complementation group S - PPP1R53 - RNF53 - protein phosphatase 1, regulatory subunit 53 - - - gene with protein product - - - - Ensembl - ENSG00000012048 - - - Genatlas - BRCA1 - - - HGNC - 1100 - - - OMIM - 113705 - - - Reactome - P38398 - - - SwissProt - P38398 - - - ClinVar - BRCA1 - - - - - 17q21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2965 - Prolactinoma - - Disease - - - Disorder - - - - 28413019[PMID] - - cadherin related 23 - CDH23 - - CDHR23 - cadherin-related family member 23 - - - gene with protein product - - - - Ensembl - ENSG00000107736 - - - Genatlas - CDH23 - - - HGNC - 13733 - - - OMIM - 605516 - - - SwissProt - Q9H251 - - - ClinVar - CDH23 - - - - - 10q22.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23321498[PMID] - - menin 1 - MEN1 - - menin - - - gene with protein product - - - - Ensembl - ENSG00000133895 - - - Genatlas - MEN1 - - - HGNC - 7010 - - - OMIM - 613733 - - - Reactome - O00255 - - - SwissProt - O00255 - - - ClinVar - MEN1 - - - - - 11q13 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22319033[PMID]_23321498[PMID] - - AHR interacting HSP90 co-chaperone - AIP - - ARA9 - FKBP16 - XAP2 - aryl hydrocarbon receptor-associated protein 9 - X-associated protein-2 - hepatitis B virus X-associated cellular protein 2 - FKBP37 - FKBP prolyl isomerase 16 - FK506-binding protein 37 - Ah receptor activated 9 - - - gene with protein product - - - - ClinVar - AIP - - - Reactome - O00170 - - - Ensembl - ENSG00000110711 - - - Genatlas - AIP - - - HGNC - 358 - - - OMIM - 605555 - - - SwissProt - O00170 - - - - - 11q13.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538 - Lymphangioleiomyomatosis - - Disease - - - Disorder - - - - 17541983[PMID] - - TSC complex subunit 1 - TSC1 - - KIAA0243 - LAM - hamartin - - - gene with protein product - - - - ClinVar - TSC1 - - - Ensembl - ENSG00000165699 - - - Genatlas - TSC1 - - - HGNC - 12362 - - - OMIM - 605284 - - - Reactome - Q92574 - - - SwissProt - Q92574 - - - - - 9q34.13 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 17541983[PMID] - - TSC complex subunit 2 - TSC2 - - LAM - PPP1R160 - protein phosphatase 1, regulatory subunit 160 - tuberin - - - gene with protein product - - - - OMIM - 191092 - - - Reactome - P49815 - - - SwissProt - P49815 - - - ClinVar - TSC2 - - - Ensembl - ENSG00000103197 - - - Genatlas - TSC2 - - - HGNC - 12363 - - - - - 16p13.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 1578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1578 - Pterin-4 alpha-carbinolamine dehydratase deficiency - - Clinical subtype - - - Subtype of disorder - - - - 9760199[PMID] - - pterin-4 alpha-carbinolamine dehydratase 1 - PCBD1 - - PCD - Pterin-4a-carbinolamine dehydratase (dimerization cofactor of hepatic nuclear factor 1-alpha) - dimerizing cofactor for HNF1 - pterin-4-alpha carbinolamine dehydratase - - - gene with protein product - - - - OMIM - 126090 - - - Reactome - P61457 - - - SwissProt - P61457 - - - Ensembl - ENSG00000166228 - - - Genatlas - PCBD1 - - - HGNC - 8646 - - - ClinVar - PCBD1 - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3208 - Isolated succinate-CoQ reductase deficiency - - Disease - - - Disorder - - - - 22972948[PMID] - - succinate dehydrogenase complex flavoprotein subunit A - SDHA - - FP - SDHF - flavoprotein subunit of complex II - succinate dehydrogenase [ubiquinone] flavoprotein subunit - - - gene with protein product - - - - ClinVar - SDHA - - - Ensembl - ENSG00000073578 - - - Genatlas - SDHA - - - HGNC - 10680 - - - OMIM - 600857 - - - Reactome - P31040 - - - SwissProt - P31040 - - - - - 5p15.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22972948[PMID] - - succinate dehydrogenase complex iron sulfur subunit B - SDHB - - iron-sulfur subunit of complex II - succinate dehydrogenase [ubiquinone] iron-sulfur subunit - - - gene with protein product - - - - ClinVar - SDHB - - - Reactome - P21912 - - - SwissProt - P21912 - - - Ensembl - ENSG00000117118 - - - Genatlas - SDHB - - - HGNC - 10681 - - - OMIM - 185470 - - - - - 1p36.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24367056[PMID] - - succinate dehydrogenase complex subunit D - SDHD - - cybS - small subunit of cytochrome b - - - gene with protein product - - - - ClinVar - SDHD - - - Ensembl - ENSG00000204370 - - - Genatlas - SDHD - - - HGNC - 10683 - - - OMIM - 602690 - - - Reactome - O14521 - - - SwissProt - O14521 - - - - - 11q23.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 19465911[PMID] - - succinate dehydrogenase complex assembly factor 1 - SDHAF1 - - LYR motif containing 8 - LYRM8 - - - gene with protein product - - - - Reactome - A6NFY7 - - - Ensembl - ENSG00000205138 - - - Genatlas - SDHAF1 - - - HGNC - 33867 - - - OMIM - 612848 - - - SwissProt - A6NFY7 - - - ClinVar - SDHAF1 - - - - - 19q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 221008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221008 - Rothmund-Thomson syndrome type 1 - - Clinical subtype - - - Subtype of disorder - - - - 31303264[PMID] - - anaphase promoting complex subunit 1 - ANAPC1 - - MCPR - TSG24 - APC1 - - - gene with protein product - - - - HGNC - 19988 - - - Ensembl - ENSG00000153107 - - - SwissProt - Q9H1A4 - - - Reactome - Q9H1A4 - - - OMIM - 608473 - - - - - 2q13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 24 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=24 - Fumaric aciduria - - Disease - - - Disorder - - - - 20301679[PMID] - - fumarate hydratase - FH - - fumarase - - - gene with protein product - - - - ClinVar - FH - - - Ensembl - ENSG00000091483 - - - Genatlas - FH - - - HGNC - 3700 - - - OMIM - 136850 - - - Reactome - P07954 - - - SwissProt - P07954 - - - - - 1q43 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 221016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221016 - Rothmund-Thomson syndrome type 2 - - Clinical subtype - - - Subtype of disorder - - - - 20503338[PMID]_20301415[PMID] - - RecQ like helicase 4 - RECQL4 - - RecQ4 - - - gene with protein product - - - - HGNC - 9949 - - - OMIM - 603780 - - - SwissProt - O94761 - - - ClinVar - RECQL4 - - - Ensembl - ENSG00000160957 - - - Genatlas - RECQL4 - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1561 - Fatal infantile cytochrome C oxidase deficiency - - Disease - - - Disorder - - - - 11013136[PMID]_19295170[PMID]_23878101[PMID] - - synthesis of cytochrome C oxidase 1 - SCO1 - - - - gene with protein product - - - - ClinVar - SCO1 - - - Genatlas - SCO1 - - - HGNC - 10603 - - - OMIM - 603644 - - - Reactome - O75880 - - - SwissProt - O75880 - - - Ensembl - ENSG00000133028 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 10545952[PMID] - - synthesis of cytochrome C oxidase 2 - SCO2 - - SCO1L - - - gene with protein product - - - - ClinVar - SCO2 - - - Genatlas - SCO2 - - - HGNC - 10604 - - - Ensembl - ENSG00000284194 - - - OMIM - 604272 - - - Reactome - O43819 - - - SwissProt - O43819 - - - - - 22q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 2175025[PMID]_21412973[PMID] - - cytochrome c oxidase assembly homolog COX15 - COX15 - - CEMCOX2 - - - gene with protein product - - - - ClinVar - COX15 - - - Ensembl - ENSG00000014919 - - - Genatlas - COX15 - - - HGNC - 2263 - - - OMIM - 603646 - - - Reactome - Q7KZN9 - - - SwissProt - Q7KZN9 - - - - - 10q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21457908[PMID] - - cytochrome c oxidase assembly factor 5 - COA5 - - FLJ27524 - MGC52110 - Pet191 - - - gene with protein product - - - - ClinVar - COA5 - - - Ensembl - ENSG00000183513 - - - Genatlas - COA5 - - - HGNC - 33848 - - - OMIM - 613920 - - - SwissProt - Q86WW8 - - - - - 2q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24549041[PMID]_25339201[PMID] - - cytochrome c oxidase assembly factor 6 - COA6 - - - - gene with protein product - - - - ClinVar - C1orf31 - - - Ensembl - ENSG00000168275 - - - Genatlas - C1orf31 - - - HGNC - 18025 - - - OMIM - 614772 - - - SwissProt - Q5JTJ3 - - - Reactome - Q5JTJ3 - - - - - 1q42.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1460 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1460 - Isolated complex III deficiency - - Disease - - - Disorder - - - - 17403714[PMID]_19162478[PMID]_25914718[PMID] - - BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone - BCS1L - - BCS - BJS - Bjornstad syndrome - GRACILE syndrome - Hs.6719 - h-BCS - - - gene with protein product - - - - Ensembl - ENSG00000074582 - - - Genatlas - BCS1L - - - HGNC - 1020 - - - OMIM - 603647 - - - Reactome - Q9Y276 - - - SwissProt - Q9Y276 - - - ClinVar - BCS1L - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20862300[PMID]_25914718[PMID] - - mitochondrially encoded cytochrome b - MT-CYB - - COB - CYTB - UQCR3 - - - gene with protein product - - - - ClinVar - MT-CYB - - - Ensembl - ENSG00000198727 - - - Genatlas - MT-CYB - - - HGNC - 7427 - - - OMIM - 516020 - - - Reactome - P00156 - - - SwissProt - P00156 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18439546[PMID]_25914718[PMID] - - ubiquinol-cytochrome c reductase complex III subunit VII - UQCRQ - - QCR8 - QP-C - UQCR7 - complex III subunit 8 - ubiquinol-cytochrome c reductase, complex III subunit VII - - - gene with protein product - - - - ClinVar - UQCRQ - - - Ensembl - ENSG00000164405 - - - Genatlas - UQCRQ - - - HGNC - 29594 - - - OMIM - 612080 - - - Reactome - O14949 - - - SwissProt - O14949 - - - - - 5q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12709789[PMID]_25914718[PMID] - - ubiquinol-cytochrome c reductase binding protein - UQCRB - - QCR7 - QP-C - UQCR6 - cytochrome b-c1 complex subunit 7 - ubiquinol-cytochrome c reductase, complex III subunit VI - - - gene with protein product - - - - ClinVar - UQCRB - - - Ensembl - ENSG00000156467 - - - Genatlas - UQCRB - - - HGNC - 12582 - - - OMIM - 191330 - - - Reactome - P14927 - - - SwissProt - P14927 - - - - - 8q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21278747[PMID]_25914718[PMID] - - tetratricopeptide repeat domain 19 - TTC19 - - Tetratricopeptide repeat protein 19, mitochondrial - FLJ20343 - MGC19520 - - - gene with protein product - - - - ClinVar - TTC19 - - - Ensembl - ENSG00000011295 - - - Genatlas - TTC19 - - - HGNC - 26006 - - - OMIM - 613814 - - - SwissProt - Q6DKK2 - - - - - 17p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23281071[PMID]_25914718[PMID] - - ubiquinol-cytochrome c reductase core protein 2 - UQCRC2 - - QCR2 - UQCR2 - - - gene with protein product - - - - Ensembl - ENSG00000140740 - - - Genatlas - UQCRC2 - - - HGNC - 12586 - - - OMIM - 191329 - - - Reactome - P22695 - - - SwissProt - P22695 - - - ClinVar - UQCRC2 - - - - - 16p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23910460[PMID]_25914718[PMID] - - cytochrome c1 - CYC1 - - UQCR4 - - - gene with protein product - - - - Ensembl - ENSG00000179091 - - - Genatlas - CYC1 - - - HGNC - 2579 - - - OMIM - 123980 - - - Reactome - P08574 - - - SwissProt - P08574 - - - ClinVar - CYC1 - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24014394[PMID]_25914718[PMID] - - LYR motif containing 7 - LYRM7 - - FLJ20796 - MZM1L - - - gene with protein product - - - - Reactome - Q5U5X0 - - - Ensembl - ENSG00000186687 - - - HGNC - 28072 - - - OMIM - 615831 - - - SwissProt - Q5U5X0 - - - - - 5q23.3-q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24385928[PMID]_25914718[PMID] - - ubiquinol-cytochrome c reductase complex assembly factor 2 - UQCC2 - - Cbp6 - M19 - MGC14833 - bA6B20.2 - cytochrome B protein synthesis 6 homolog (S. cerevisiae) - - - gene with protein product - - - - Reactome - Q9BRT2 - - - ClinVar - C6orf125 - - - Ensembl - ENSG00000137288 - - - Genatlas - C6orf125 - - - HGNC - 21237 - - - OMIM - 614461 - - - SwissProt - Q9BRT2 - - - - - 6p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25008109[PMID]_25914718[PMID] - - ubiquinol-cytochrome c reductase complex assembly factor 3 - UQCC3 - - UNQ655 - - - gene with protein product - - - - Ensembl - ENSG00000204922 - - - HGNC - 34399 - - - OMIM - 616097 - - - SwissProt - Q6UW78 - - - - - 11q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32001716[PMID] - - ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 - UQCRFS1 - - RISP - UQCR5 - RIP1 - RIS1 - cytochrome b-c1 complex subunit 5 - - - gene with protein product - - - - HGNC - 12587 - - - Ensembl - ENSG00000169021 - - - SwissProt - P47985 - - - ClinVar - UQCRFS1 - - - OMIM - 191327 - - - Reactome - P47985 - - - Genatlas - UQCRFS1 - - - - - 19q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=851 - Paris-Trousseau thrombocytopenia - - Disease - - - Disorder - - - - 7703487[PMID]_22775407[PMID] - - Fli-1 proto-oncogene, ETS transcription factor - FLI1 - - EWSR2 - SIC-1 - FLI-1 - - - gene with protein product - - - - Reactome - Q01543 - - - ClinVar - FLI1 - - - Ensembl - ENSG00000151702 - - - Genatlas - FLI1 - - - HGNC - 3749 - - - OMIM - 193067 - - - SwissProt - Q01543 - - - - - 11q24.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 221043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221043 - Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome - - Disease - - - Disorder - - - - 24268661[PMID] - - FAM111 trypsin like peptidase B - FAM111B - - CANP - - - gene with protein product - - - - Ensembl - ENSG00000189057 - - - Genatlas - FAM111B - - - HGNC - 24200 - - - OMIM - 615584 - - - SwissProt - Q6SJ93 - - - Reactome - Q6SJ93 - - - ClinVar - FAM111B - - - - - 11q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 221046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221046 - Poikiloderma with neutropenia - - Disease - - - Disorder - - - - 20004881[PMID]_20503306[PMID] - - U6 snRNA biogenesis phosphodiesterase 1 - USB1 - - FLJ13154 - HVSL motif containing 1 - HVSL1 - Mpn1 - U six biogenesis 1 - mutated in poikiloderma with neutropenia protein 1 - poikiloderma with neutropenia - - - gene with protein product - - - - Ensembl - ENSG00000103005 - - - Genatlas - HVSL1 - - - HGNC - 25792 - - - OMIM - 613276 - - - SwissProt - Q9BQ65 - - - ClinVar - HVSL1 - - - - - 16q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=745 - Severe hereditary thrombophilia due to congenital protein C deficiency - - Disease - - - Disorder - - - - 23521084[PMID] - - protein C, inactivator of coagulation factors Va and VIIIa - PROC - - prepro-protein C - coagulation factor XIV - - - gene with protein product - - - - ClinVar - PROC - - - Ensembl - ENSG00000115718 - - - Genatlas - PROC - - - HGNC - 9451 - - - IUPHAR - 2396 - - - OMIM - 612283 - - - Reactome - P04070 - - - SwissProt - P04070 - - - - - 2q14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 221061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221061 - Familial cerebral cavernous malformation - - Malformation syndrome - - - Disorder - - - - 20301470[PMID] - - CCM2 scaffold protein - CCM2 - - MGC4607 - OSM - malcavernin - osmosensing scaffold for MEKK3 - - - gene with protein product - - - - Ensembl - ENSG00000136280 - - - Genatlas - CCM2 - - - HGNC - 21708 - - - OMIM - 607929 - - - SwissProt - Q9BSQ5 - - - ClinVar - CCM2 - - - - - 7p13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301470[PMID] - - KRIT1 ankyrin repeat containing - KRIT1 - - CAM - Krev interaction trapped 1 - - - gene with protein product - - - - ClinVar - KRIT1 - - - Genatlas - KRIT1 - - - HGNC - 1573 - - - OMIM - 604214 - - - SwissProt - O00522 - - - Ensembl - ENSG00000001631 - - - - - 7q21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301470[PMID] - - programmed cell death 10 - PDCD10 - - TFAR15 - - - gene with protein product - - - - Reactome - Q9BUL8 - - - Ensembl - ENSG00000114209 - - - Genatlas - PDCD10 - - - HGNC - 8761 - - - OMIM - 609118 - - - SwissProt - Q9BUL8 - - - ClinVar - PDCD10 - - - - - 3q26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34496175[PMID] - - phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha - PIK3CA - - PI3K - - - gene with protein product - - - - Reactome - P42336 - - - SwissProt - P42336 - - - Ensembl - ENSG00000121879 - - - Genatlas - PIK3CA - - - HGNC - 8975 - - - IUPHAR - 2153 - - - OMIM - 171834 - - - ClinVar - PIK3CA - - - - - 3q26.32 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=849 - Glanzmann thrombasthenia - - Disease - - - Disorder - - - - 21917754[PMID] - - integrin subunit alpha 2b - ITGA2B - - CD41 - CD41B - PPP1R93 - platelet glycoprotein IIb of IIb/IIIa complex - protein phosphatase 1, regulatory subunit 93 - GPIIb - Integrin alpha-IIb - - - gene with protein product - - - - ClinVar - ITGA2B - - - Ensembl - ENSG00000005961 - - - Genatlas - ITGA2B - - - HGNC - 6138 - - - OMIM - 607759 - - - Reactome - P08514 - - - SwissProt - P08514 - - - IUPHAR - 2441 - - - - - 17q21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21917754[PMID] - - integrin subunit beta 3 - ITGB3 - - CD61 - GPIIIa - antigen CD61 - platelet glycoprotein IIIa - - - gene with protein product - - - - Ensembl - ENSG00000259207 - - - Genatlas - ITGB3 - - - HGNC - 6156 - - - OMIM - 173470 - - - Reactome - P05106 - - - SwissProt - P05106 - - - ClinVar - ITGB3 - - - IUPHAR - 2457 - - - - - 17q21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 225154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225154 - Familial infantile bilateral striatal necrosis - - Disease - - - Disorder - - - - 36333996[PMID] - - nucleoporin 54 - NUP54 - - - - gene with protein product - - - - HGNC - 17359 - - - Ensembl - ENSG00000138750 - - - OMIM - 607607 - - - SwissProt - Q7Z3B4 - - - - - 4q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24262145[PMID] - - adenosine deaminase RNA specific - ADAR - - ADAR1 - DRADA - Double-stranded RNA-specific adenosine deaminase - - - gene with protein product - - - - Ensembl - ENSG00000160710 - - - Genatlas - ADAR - - - HGNC - 225 - - - OMIM - 146920 - - - Reactome - P55265 - - - SwissProt - P55265 - - - ClinVar - ADAR - - - - - 1q21.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - mitochondrially encoded ATP synthase membrane subunit 6 - MT-ATP6 - - ATP6 - ATPase-6 - Su6m - mitochondrially encoded ATP synthase membrane subunit a - - - gene with protein product - - - - ClinVar - MT-ATP6 - - - Ensembl - ENSG00000198899 - - - Genatlas - MT-ATP6 - - - HGNC - 7414 - - - OMIM - 516060 - - - Reactome - P00846 - - - SwissProt - P00846 - - - IUPHAR - 801 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - nucleoporin 62 - NUP62 - - DKFZp547L134 - FLJ20822 - FLJ43869 - IBSN - MGC841 - SNDI - nuclear pore glycoprotein p62 - p62 - - - gene with protein product - - - - Ensembl - ENSG00000213024 - - - Genatlas - NUP62 - - - HGNC - 8066 - - - OMIM - 605815 - - - Reactome - P37198 - - - SwissProt - P37198 - - - ClinVar - NUP62 - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 225123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225123 - TFR2-related hemochromatosis - - Disease - - - Disorder - - - - 26029709[PMID] - - transferrin receptor 2 - TFR2 - - HFE3 - TFRC2 - - - gene with protein product - - - - Reactome - Q9UP52 - - - ClinVar - TFR2 - - - Genatlas - TFR2 - - - HGNC - 11762 - - - OMIM - 604720 - - - SwissProt - Q9UP52 - - - Ensembl - ENSG00000106327 - - - - - 7q22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 221126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221126 - Fowler vasculopathy - - Malformation syndrome - - - Disorder - - - - 20206334[PMID] - - FLVCR choline and putative heme transporter 2 - FLVCR2 - - FLJ20371 - MFSD7C - CCT - SLC49A2 - - - gene with protein product - - - - Ensembl - ENSG00000119686 - - - Genatlas - FLVCR2 - - - HGNC - 20105 - - - OMIM - 610865 - - - SwissProt - Q9UPI3 - - - IUPHAR - 1911 - - - ClinVar - FLVCR2 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 221139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221139 - Combined immunodeficiency with facio-oculo-skeletal anomalies - - Disease - - - Disorder - - - - 29180244[PMID] - - kinetochore localized astrin (SPAG5) binding protein - KNSTRN - - small kinetochore-associated protein - TRAF4 associated factor 1 - TRAF4AF1 - FLJ14502 - kinastrin - kinetochore-localized astrin-binding protein - SKAP - - - gene with protein product - - - - ClinVar - KNSTRN - - - HGNC - 30767 - - - Ensembl - ENSG00000128944 - - - SwissProt - Q9Y448 - - - Genatlas - KNSTRN - - - OMIM - 614718 - - - Reactome - Q9Y448 - - - - - 15q15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29180244[PMID] - - phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta - PIK3CD - - p110D - phosphatidylinositol 3-kinase, catalytic, delta polypeptide - phosphoinositide-3-kinase C - - - gene with protein product - - - - OMIM - 602839 - - - Reactome - O00329 - - - SwissProt - O00329 - - - Ensembl - ENSG00000171608 - - - Genatlas - PIK3CD - - - HGNC - 8977 - - - IUPHAR - 2155 - - - ClinVar - PIK3CD - - - - - 1p36.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 221145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221145 - Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies - - Malformation syndrome - - - Disorder - - - - 19836010[PMID]_22829427[PMID] - - latent transforming growth factor beta binding protein 4 - LTBP4 - - FLJ46318 - FLJ90018 - LTBP-4 - LTBP-4L - - - gene with protein product - - - - Ensembl - ENSG00000090006 - - - Genatlas - LTBP4 - - - HGNC - 6717 - - - OMIM - 604710 - - - Reactome - Q8N2S1 - - - SwissProt - Q8N2S1 - - - ClinVar - LTBP4 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 19836010[PMID]_22829427[PMID] - - latent transforming growth factor beta binding protein 4 - LTBP4 - - FLJ46318 - FLJ90018 - LTBP-4 - LTBP-4L - - - gene with protein product - - - - Ensembl - ENSG00000090006 - - - Genatlas - LTBP4 - - - HGNC - 6717 - - - OMIM - 604710 - - - Reactome - Q8N2S1 - - - SwissProt - Q8N2S1 - - - ClinVar - LTBP4 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 228003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228003 - Severe combined immunodeficiency due to CORO1A deficiency - - Disease - - - Disorder - - - - 23522482[PMID] - - coronin 1A - CORO1A - - Clabp TACO - HCORO1 - coronin-1 - p57 - - - gene with protein product - - - - Reactome - P31146 - - - Ensembl - ENSG00000102879 - - - Genatlas - CORO1A - - - HGNC - 2252 - - - OMIM - 605000 - - - ClinVar - CORO1A - - - SwissProt - P31146 - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 228000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228000 - Idiopathic CD4 lymphocytopenia - - Biological anomaly - - - Disorder - - - - 22184408[PMID] - - unc-119 lipid binding chaperone - UNC119 - - HRG4 - POC7 - POC7 centriolar protein homolog A (Chlamydomonas) - POC7A - - - gene with protein product - - - - IUPHAR - 3011 - - - Ensembl - ENSG00000109103 - - - Genatlas - UNC119 - - - HGNC - 12565 - - - OMIM - 604011 - - - SwissProt - Q13432 - - - Reactome - Q13432 - - - ClinVar - UNC119 - - - - - 17q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 842 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=842 - Testicular seminomatous germ cell tumor - - Disease - - - Disorder - - - - 14695343[PMID] - - KIT proto-oncogene, receptor tyrosine kinase - KIT - - C-Kit - CD117 - SCFR - mast/stem cell growth factor receptor Kit - - - gene with protein product - - - - ClinVar - KIT - - - Ensembl - ENSG00000157404 - - - Genatlas - KIT - - - HGNC - 6342 - - - IUPHAR - 1805 - - - OMIM - 164920 - - - Reactome - P10721 - - - SwissProt - P10721 - - - - - 4q12 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 227976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227976 - Autosomal recessive optic atrophy, OPA7 type - - Disease - - - Disorder - - - - 19327736[PMID]_22815638[PMID] - - transmembrane protein 126A - TMEM126A - - optic atrophy 7 - DKFZp586C1924 - OPA7 - - - gene with protein product - - - - ClinVar - TMEM126A - - - Ensembl - ENSG00000171202 - - - Genatlas - TMEM126A - - - HGNC - 25382 - - - OMIM - 612988 - - - SwissProt - Q9H061 - - - - - 11q14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 227796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227796 - Fundus albipunctatus - - Disease - - - Disorder - - - - - - peripherin 2 - PRPH2 - - CACD2 - TSPAN22 - rd2 - retinal peripherin - tetraspanin-22 - choroidal dystrophy, central areolar 2 - - - gene with protein product - - - - ClinVar - PRPH2 - - - Ensembl - ENSG00000112619 - - - Genatlas - PRPH2 - - - HGNC - 9942 - - - OMIM - 179605 - - - SwissProt - P23942 - - - - - 6p21.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 22736946[PMID]_25820994[PMID] - - retinol dehydrogenase 5 - RDH5 - - HSD17B9 - SDR9C5 - short chain dehydrogenase/reductase family 9C, member 5 - - - gene with protein product - - - - ClinVar - RDH5 - - - Ensembl - ENSG00000135437 - - - Genatlas - RDH5 - - - HGNC - 9940 - - - OMIM - 601617 - - - Reactome - Q92781 - - - SwissProt - Q92781 - - - - - 12q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21447491[PMID] - - retinaldehyde binding protein 1 - RLBP1 - - CRALBP - - - gene with protein product - - - - Ensembl - ENSG00000140522 - - - Genatlas - RLBP1 - - - HGNC - 10024 - - - OMIM - 180090 - - - Reactome - P12271 - - - SwissProt - P12271 - - - IUPHAR - 2545 - - - ClinVar - RLBP1 - - - - - 15q26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=389 - Langerhans cell histiocytosis - - Disease - - - Disorder - - - - 26980021[PMID] - - mitogen-activated protein kinase kinase 1 - MAP2K1 - - MAPKK1 - MEK1 - MKK1 - dual specificity mitogen-activated protein kinase kinase 1 - MAP kinase kinase 1 - MAPK/ERK kinase 1 - - - gene with protein product - - - - Ensembl - ENSG00000169032 - - - Genatlas - MAP2K1 - - - HGNC - 6840 - - - IUPHAR - 2062 - - - OMIM - 176872 - - - Reactome - Q02750 - - - SwissProt - Q02750 - - - ClinVar - MAP2K1 - - - - - 15q22.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27076591[PMID] - - NRAS proto-oncogene, GTPase - NRAS - - N-ras - - - gene with protein product - - - - HGNC - 7989 - - - OMIM - 164790 - - - Reactome - P01111 - - - SwissProt - P01111 - - - Ensembl - ENSG00000213281 - - - Genatlas - NRAS - - - ClinVar - NRAS - - - IUPHAR - 2823 - - - - - 1p13.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 22996177[PMID] - - B-Raf proto-oncogene, serine/threonine kinase - BRAF - - BRAF1 - BRAF-1 - - - gene with protein product - - - - Ensembl - ENSG00000157764 - - - Genatlas - BRAF - - - HGNC - 1097 - - - IUPHAR - 1943 - - - OMIM - 164757 - - - Reactome - P15056 - - - SwissProt - P15056 - - - ClinVar - BRAF - - - - - 7q34 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 228012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228012 - Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome - - Disease - - - Disorder - - - - 15060111[PMID] - - myosin VI - MYO6 - - KIAA0389 - - - gene with protein product - - - - Ensembl - ENSG00000196586 - - - Genatlas - MYO6 - - - HGNC - 7605 - - - OMIM - 600970 - - - Reactome - Q9UM54 - - - SwissProt - Q9UM54 - - - ClinVar - MYO6 - - - - - 6q14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543 - Burkitt lymphoma - - Disease - - - Disorder - - - - - - MYC proto-oncogene, bHLH transcription factor - MYC - - MYCC - bHLHe39 - c-Myc - - - gene with protein product - - - - Ensembl - ENSG00000136997 - - - Genatlas - MYC - - - HGNC - 7553 - - - OMIM - 190080 - - - Reactome - P01106 - - - SwissProt - P01106 - - - ClinVar - MYC - - - - - 8q24.21 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319 - Skeletal Ewing sarcoma - - Disease - - - Disorder - - - - - - ETS transcription factor ERG - ERG - - TMPRSS2-ERG prostate cancer specific - erg-3 - p55 - transcriptional regulator ERG (transforming protein ERG) - v-ets erythroblastosis virus E26 oncogene like - ETS-related gene - - - gene with protein product - - - - Reactome - P11308 - - - ClinVar - ERG - - - Ensembl - ENSG00000157554 - - - Genatlas - ERG - - - HGNC - 3446 - - - OMIM - 165080 - - - SwissProt - P11308 - - - - - 21q22.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - ETS variant transcription factor 1 - ETV1 - - ER81 - - - gene with protein product - - - - Reactome - P50549 - - - SwissProt - P50549 - - - Ensembl - ENSG00000006468 - - - Genatlas - ETV1 - - - HGNC - 3490 - - - OMIM - 600541 - - - ClinVar - ETV1 - - - - - 7p21.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - EWS RNA binding protein 1 - EWSR1 - - EWS - - - gene with protein product - - - - Reactome - Q01844 - - - Ensembl - ENSG00000182944 - - - Genatlas - EWSR1 - - - HGNC - 3508 - - - OMIM - 133450 - - - SwissProt - Q01844 - - - ClinVar - EWSR1 - - - - - 22q12.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - Fli-1 proto-oncogene, ETS transcription factor - FLI1 - - EWSR2 - SIC-1 - FLI-1 - - - gene with protein product - - - - Reactome - Q01543 - - - ClinVar - FLI1 - - - Ensembl - ENSG00000151702 - - - Genatlas - FLI1 - - - HGNC - 3749 - - - OMIM - 193067 - - - SwissProt - Q01543 - - - - - 11q24.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - ETS variant transcription factor 4 - ETV4 - - E1A enhancer binding protein - E1A-F - E1AF - PEA3 - - - gene with protein product - - - - Ensembl - ENSG00000175832 - - - Genatlas - ETV4 - - - HGNC - 3493 - - - OMIM - 600711 - - - Reactome - P43268 - - - SwissProt - P43268 - - - ClinVar - ETV4 - - - - - 17q21.31 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 227535 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227535 - Hereditary breast cancer - - Disease - - - Disorder - - - - 18996184[PMID] - - N-ribosyldihydronicotinamide:quinone dehydrogenase 2 - NQO2 - - DHQV - DIA6 - NRH:quinone oxidoreductase 2 - QR2 - quinone reductase 2 - - - gene with protein product - - - - OMIM - 160998 - - - SwissProt - P16083 - - - Ensembl - ENSG00000124588 - - - HGNC - 7856 - - - - - 6p25.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 33471991[PMID] - - ATM serine/threonine kinase - ATM - - TEL1 - TEL1, telomere maintenance 1, homolog (S. cerevisiae) - TELO1 - - - gene with protein product - - - - ClinVar - ATM - - - SwissProt - Q13315 - - - Ensembl - ENSG00000149311 - - - Genatlas - ATM - - - HGNC - 795 - - - IUPHAR - 1934 - - - OMIM - 607585 - - - Reactome - Q13315 - - - - - 11q22.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 32322110[PMID] - - cadherin 1 - CDH1 - - CD324 - E-Cadherin - uvomorulin - - - gene with protein product - - - - Ensembl - ENSG00000039068 - - - Genatlas - CDH1 - - - HGNC - 1748 - - - OMIM - 192090 - - - Reactome - P12830 - - - SwissProt - P12830 - - - ClinVar - CDH1 - - - - - 16q22.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 9609997[PMID]_10323242[PMID]_12442275[PMID] - - BRCA1 DNA repair associated - BRCA1 - - BRCA1/BRCA2-containing complex, subunit 1 - BRCC1 - FANCS - Fanconi anemia, complementation group S - PPP1R53 - RNF53 - protein phosphatase 1, regulatory subunit 53 - - - gene with protein product - - - - Ensembl - ENSG00000012048 - - - Genatlas - BRCA1 - - - HGNC - 1100 - - - OMIM - 113705 - - - Reactome - P38398 - - - SwissProt - P38398 - - - ClinVar - BRCA1 - - - - - 17q21.31 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 9609997[PMID]_10323242[PMID]_12442275[PMID] - - BRCA2 DNA repair associated - BRCA2 - - BRCA1/BRCA2-containing complex, subunit 2 - BRCC2 - FAD - FAD1 - XRCC11 - - - gene with protein product - - - - SwissProt - P51587 - - - Ensembl - ENSG00000139618 - - - Genatlas - BRCA2 - - - HGNC - 1101 - - - OMIM - 600185 - - - Reactome - P51587 - - - ClinVar - BRCA2 - - - - - 13q13.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 25099575[PMID] - - partner and localizer of BRCA2 - PALB2 - - Fanconi anemia, complementation group N - FANCN - FLJ21816 - - - gene with protein product - - - - ClinVar - PALB2 - - - Ensembl - ENSG00000083093 - - - Genatlas - PALB2 - - - HGNC - 26144 - - - OMIM - 610355 - - - Reactome - Q86YC2 - - - SwissProt - Q86YC2 - - - - - 16p12.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22464251[PMID] - - X-ray repair cross complementing 2 - XRCC2 - - RAD51-like - FANCU - DNA repair protein XRCC2 - - - gene with protein product - - - - Genatlas - XRCC2 - - - HGNC - 12829 - - - OMIM - 600375 - - - Reactome - O43543 - - - SwissProt - O43543 - - - Ensembl - ENSG00000196584 - - - ClinVar - XRCC2 - - - - - 7q36.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23450725[PMID] - - killin, p53 regulated DNA replication inhibitor - KLLN - - killin - - - gene with protein product - - - - Ensembl - ENSG00000227268 - - - Genatlas - KLLN - - - HGNC - 37212 - - - OMIM - 612105 - - - SwissProt - B2CW77 - - - ClinVar - KLLN - - - - - 10q23 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - RAD54 like - RAD54L - - RAD54A - hHR54 - hRAD54 - - - gene with protein product - - - - Ensembl - ENSG00000085999 - - - Genatlas - RAD54L - - - HGNC - 9826 - - - OMIM - 603615 - - - SwissProt - Q92698 - - - ClinVar - RAD54L - - - - - 1p34.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - solute carrier family 67 member 1 - SLC67A1 - - BWR1A - ITM - TSSC5 - organic cation transporter like 2 - imprinted multi-membrane-spanning polyspecific transporter-like gene 1 - - - gene with protein product - - - - Ensembl - ENSG00000110628 - - - Genatlas - SLC22A18 - - - HGNC - 10964 - - - IUPHAR - 1036 - - - OMIM - 602631 - - - Reactome - Q96BI1 - - - SwissProt - Q96BI1 - - - ClinVar - SLC22A18 - - - - - 11p15.4 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 668 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=668 - Osteosarcoma - - Disease - - - Disorder - - - - 11746983[PMID] - - checkpoint kinase 2 - CHEK2 - - CDS1 - CHK2 - HuCds1 - PP1425 - bA444G7 - - - gene with protein product - - - - Ensembl - ENSG00000183765 - - - Genatlas - CHEK2 - - - HGNC - 16627 - - - IUPHAR - 1988 - - - OMIM - 604373 - - - Reactome - O96017 - - - SwissProt - O96017 - - - ClinVar - CHEK2 - - - - - 22q12.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 11449317[PMID] - - RB transcriptional corepressor 1 - RB1 - - PPP1R130 - RB - prepro-retinoblastoma-associated protein - protein phosphatase 1, regulatory subunit 130 - - - gene with protein product - - - - ClinVar - RB1 - - - SwissProt - P06400 - - - Ensembl - ENSG00000139687 - - - Genatlas - RB1 - - - HGNC - 9884 - - - OMIM - 614041 - - - Reactome - P06400 - - - - - 13q14.2 - 1 - - - - - Candidate gene tested in - - - Assessed - - - - 8401536[PMID]_2823272[PMID] - - tumor protein p53 - TP53 - - LFS1 - Li-Fraumeni syndrome - P53 - p53 - - - gene with protein product - - - - Ensembl - ENSG00000141510 - - - Genatlas - TP53 - - - HGNC - 11998 - - - OMIM - 191170 - - - Reactome - P04637 - - - SwissProt - P04637 - - - ClinVar - TP53 - - - - - 17p13.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 2823272[PMID]_1349175[PMID]_8401536[PMID] - - tumor protein p53 - TP53 - - LFS1 - Li-Fraumeni syndrome - P53 - p53 - - - gene with protein product - - - - Ensembl - ENSG00000141510 - - - Genatlas - TP53 - - - HGNC - 11998 - - - OMIM - 191170 - - - Reactome - P04637 - - - SwissProt - P04637 - - - ClinVar - TP53 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 227510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227510 - Multiple system atrophy, cerebellar type - - Clinical subtype - - - Subtype of disorder - - - - 23758206[PMID] - - coenzyme Q2, polyprenyltransferase - COQ2 - - 4-hydroxybenzoate polyprenyltransferase - CL640 - FLJ26072 - - - gene with protein product - - - - ClinVar - COQ2 - - - Ensembl - ENSG00000173085 - - - Genatlas - COQ2 - - - HGNC - 25223 - - - OMIM - 609825 - - - Reactome - Q96H96 - - - SwissProt - Q96H96 - - - - - 4q21.23 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 2030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2030 - Fibrosarcoma - - Disease - - - Disorder - - - - - - ETS variant transcription factor 6 - ETV6 - - TEL - TEL oncogene - - - gene with protein product - - - - Reactome - P41212 - - - Ensembl - ENSG00000139083 - - - Genatlas - ETV6 - - - HGNC - 3495 - - - OMIM - 600618 - - - SwissProt - P41212 - - - ClinVar - ETV6 - - - - - 12p13.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - neurotrophic receptor tyrosine kinase 3 - NTRK3 - - TRKC - - - gene with protein product - - - - Ensembl - ENSG00000140538 - - - Genatlas - NTRK3 - - - HGNC - 8033 - - - IUPHAR - 1819 - - - OMIM - 191316 - - - SwissProt - Q16288 - - - Reactome - Q16288 - - - ClinVar - NTRK3 - - - - - 15q25.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 2126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2126 - Solitary fibrous tumor - - Disease - - - Disorder - - - - 23313952[PMID]_23313954[PMID] - - signal transducer and activator of transcription 6 - STAT6 - - D12S1644 - IL-4-STAT - - - gene with protein product - - - - Ensembl - ENSG00000166888 - - - Genatlas - STAT6 - - - HGNC - 11368 - - - OMIM - 601512 - - - Reactome - P42226 - - - SwissProt - P42226 - - - IUPHAR - 2993 - - - ClinVar - STAT6 - - - - - 12q13.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 23313952[PMID]_23313954[PMID] - - NGFI-A binding protein 2 - NAB2 - - EGR1 binding protein 2 - MADER - - - gene with protein product - - - - Ensembl - ENSG00000166886 - - - Genatlas - NAB2 - - - HGNC - 7627 - - - OMIM - 602381 - - - SwissProt - Q15742 - - - Reactome - Q15742 - - - ClinVar - NAB2 - - - - - 12q13.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=758 - Pseudoxanthoma elasticum - - Disease - - - Disorder - - - - 20032990[PMID]_20301292[PMID] - - ATP binding cassette subfamily C member 6 - ABCC6 - - EST349056 - MLP1 - MRP6 - URG7 - - - gene with protein product - - - - IUPHAR - 784 - - - ClinVar - ABCC6 - - - Ensembl - ENSG00000091262 - - - Genatlas - ABCC6 - - - HGNC - 57 - - - OMIM - 603234 - - - Reactome - O95255 - - - SwissProt - O95255 - - - - - 16p13.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25615550[PMID] - - ectonucleotide pyrophosphatase/phosphodiesterase 1 - ENPP1 - - PC-1 - PCA1 - - - gene with protein product - - - - Ensembl - ENSG00000197594 - - - Genatlas - ENPP1 - - - HGNC - 3356 - - - OMIM - 173335 - - - Reactome - P22413 - - - SwissProt - P22413 - - - ClinVar - ENPP1 - - - - - 6q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 419 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=419 - Hyperprolinemia type 1 - - Disease - - - Disorder - - - - 20524212[PMID]_23462603[PMID] - - proline dehydrogenase 1 - PRODH - - HSPOX2 - PIG6 - PRODH1 - PRODH2 - TP53I6 - proline oxidase - POX - p53 Inducible gene 6 - - - gene with protein product - - - - Ensembl - ENSG00000100033 - - - Genatlas - PRODH - - - HGNC - 9453 - - - OMIM - 606810 - - - Reactome - O43272 - - - SwissProt - O43272 - - - ClinVar - PRODH - - - - - 22q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1501 - Adrenocortical carcinoma - - Disease - - - Disorder - - - - 11600572[PMID] - - tumor protein p53 - TP53 - - LFS1 - Li-Fraumeni syndrome - P53 - p53 - - - gene with protein product - - - - Ensembl - ENSG00000141510 - - - Genatlas - TP53 - - - HGNC - 11998 - - - OMIM - 191170 - - - Reactome - P04637 - - - SwissProt - P04637 - - - ClinVar - TP53 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25490274[PMID] - - tumor protein p53 - TP53 - - LFS1 - Li-Fraumeni syndrome - P53 - p53 - - - gene with protein product - - - - Ensembl - ENSG00000141510 - - - Genatlas - TP53 - - - HGNC - 11998 - - - OMIM - 191170 - - - Reactome - P04637 - - - SwissProt - P04637 - - - ClinVar - TP53 - - - - - 17p13.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 24747642[PMID] - - zinc and ring finger 3 - ZNRF3 - - FLJ22057 - RNF203 - KIAA1133 - BK747E2.3 - - - gene with protein product - - - - SwissProt - Q9ULT6 - - - HGNC - 18126 - - - Ensembl - ENSG00000183579 - - - Genatlas - ZNRF3 - - - OMIM - 612062 - - - ClinVar - ZNRF3 - - - - - 22q12.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 24747642[PMID] - - catenin beta 1 - CTNNB1 - - armadillo - beta-catenin - - - gene with protein product - - - - ClinVar - CTNNB1 - - - Ensembl - ENSG00000168036 - - - Genatlas - CTNNB1 - - - HGNC - 2514 - - - OMIM - 116806 - - - Reactome - P35222 - - - SwissProt - P35222 - - - - - 3p22.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 25490274[PMID] - - cyclin dependent kinase inhibitor 2A - CDKN2A - - ARF - CDK4I - CMM2 - INK4 - INK4a - MTS1 - p14 - p14ARF - p16 - p16INK4a - p19 - p19Arf - inhibitor of cdk4 A - P16-INK4A - CDKN2A/ARF Intron 2 lncRNA - multiple tumour suppressor 1 - cyclin-dependent kinase 4 inhibitor A - p14 alternate open reading frame - p19 alternate open reading frame - CAI2 - - - gene with protein product - - - - Ensembl - ENSG00000147889 - - - Genatlas - CDKN2A - - - HGNC - 1787 - - - OMIM - 600160 - - - Reactome - P42771 - - - SwissProt - P42771 - - - ClinVar - CDKN2A - - - - - 9p21.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 25490274[PMID] - - telomerase reverse transcriptase - TERT - - EST2 - TCS1 - TP2 - TRT - hEST2 - - - gene with protein product - - - - Ensembl - ENSG00000164362 - - - Genatlas - TERT - - - HGNC - 11730 - - - OMIM - 187270 - - - Reactome - O14746 - - - SwissProt - O14746 - - - ClinVar - TERT - - - - - 5p15.33 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 31147626[PMID] - - protein kinase cAMP-dependent type I regulatory subunit alpha - PRKAR1A - - CNC1 - Carney complex type 1 - - - gene with protein product - - - - Ensembl - ENSG00000108946 - - - Genatlas - PRKAR1A - - - HGNC - 9388 - - - IUPHAR - 1472 - - - OMIM - 188830 - - - Reactome - P10644 - - - SwissProt - P10644 - - - ClinVar - PRKAR1A - - - - - 17q24.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 226316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226316 - Genetic transient congenital hypothyroidism - - Disease - - - Disorder - - - - 25248169[PMID] - - dual oxidase 2 - DUOX2 - - LNOX2 - NADH/NADPH thyroid oxidase p138-tox - NADPH oxidase/peroxidase DUOX2 - NADPH thyroid oxidase 2 - P138(TOX) - P138-TOX - THOX2 - dual oxidase-like domains 2 - flavoprotein NADPH oxidase - nicotinamide adenine dinucleotide phosphate oxidase - - - gene with protein product - - - - ClinVar - DUOX2 - - - Ensembl - ENSG00000140279 - - - Genatlas - DUOX2 - - - HGNC - 13273 - - - OMIM - 606759 - - - Reactome - Q9NRD8 - - - SwissProt - Q9NRD8 - - - IUPHAR - 2999 - - - - - 15q21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 226307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226307 - Hypothyroidism due to deficient transcription factors involved in pituitary development or function - - Disease - - - Disorder - - - - 20537182[PMID]_22851492[PMID] - - POU class 1 homeobox 1 - POU1F1 - - pituitary transcript factor 1 - GHF-1 - POU1F1a - growth hormone factor 1 - PIT-1 - - - gene with protein product - - - - ClinVar - POU1F1 - - - Ensembl - ENSG00000064835 - - - Genatlas - POU1F1 - - - HGNC - 9210 - - - OMIM - 173110 - - - SwissProt - P28069 - - - - - 3p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20537182[PMID]_22851492[PMID] - - PROP paired-like homeobox 1 - PROP1 - - - - gene with protein product - - - - ClinVar - PROP1 - - - Reactome - O75360 - - - Ensembl - ENSG00000175325 - - - Genatlas - PROP1 - - - HGNC - 9455 - - - OMIM - 601538 - - - SwissProt - O75360 - - - - - 5q35.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20537182[PMID]_22851492[PMID] - - HESX homeobox 1 - HESX1 - - Rathke's pouch homeobox - ANF - RPX - - - gene with protein product - - - - Reactome - Q9UBX0 - - - ClinVar - HESX1 - - - Ensembl - ENSG00000163666 - - - Genatlas - HESX1 - - - HGNC - 4877 - - - OMIM - 601802 - - - SwissProt - Q9UBX0 - - - - - 3p14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20537182[PMID]_22851492[PMID] - - LIM homeobox 3 - LHX3 - - - - gene with protein product - - - - ClinVar - LHX3 - - - Genatlas - LHX3 - - - HGNC - 6595 - - - OMIM - 600577 - - - SwissProt - Q9UBR4 - - - Ensembl - ENSG00000107187 - - - - - 9q34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20537182[PMID]_22851492[PMID] - - LIM homeobox 4 - LHX4 - - Gsh4 - - - gene with protein product - - - - Reactome - Q969G2 - - - ClinVar - LHX4 - - - Ensembl - ENSG00000121454 - - - Genatlas - LHX4 - - - HGNC - 21734 - - - OMIM - 602146 - - - SwissProt - Q969G2 - - - - - 1q25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3273 - Synovial sarcoma - - Disease - - - Disorder - - - - - - SS18 subunit of BAF chromatin remodeling complex - SS18 - - SYT - SMARCL1 - - - gene with protein product - - - - Ensembl - ENSG00000141380 - - - Genatlas - SS18 - - - HGNC - 11340 - - - OMIM - 600192 - - - SwissProt - Q15532 - - - ClinVar - SS18 - - - - - 18q11.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - SSX family member 1 - SSX1 - - CT5.1 - cancer/testis antigen family 5, member 1 - - - gene with protein product - - - - Ensembl - ENSG00000126752 - - - Genatlas - SSX1 - - - HGNC - 11335 - - - OMIM - 312820 - - - SwissProt - Q16384 - - - ClinVar - SSX1 - - - - - Xp11.23 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - SSX family member 2 - SSX2 - - CT5.2a - HD21 - HOM-MEL-40 - MGC119055 - MGC15364 - MGC3884 - cancer/testis antigen family 5, member 2a - sarcoma, synovial, X-chromosome-related 2 - synovial sarcoma, X breakpoint 2, isoform b - synovial sarcoma, X breakpoint 2B - - - gene with protein product - - - - ClinVar - SSX2 - - - Ensembl - ENSG00000241476 - - - Genatlas - SSX2 - - - HGNC - 11336 - - - OMIM - 300192 - - - SwissProt - Q16385 - - - Reactome - Q16385 - - - - - Xp11.22 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=503 - Larsen syndrome - - Malformation syndrome - - - Disorder - - - - - - filamin B - FLNB - - ABP-278 - FH1 - TABP - TAP - actin binding protein 278 - beta filamin - - - gene with protein product - - - - Ensembl - ENSG00000136068 - - - Genatlas - FLNB - - - HGNC - 3755 - - - OMIM - 603381 - - - Reactome - O75369 - - - SwissProt - O75369 - - - ClinVar - FLNB - - - - - 3p14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2478 - Megalencephalic leukoencephalopathy with subcortical cysts - - Disease - - - Disorder - - - - 20301707[PMID] - - modulator of VRAC current 1 - MLC1 - - KIAA0027 - LVM - MLC - VL - - - gene with protein product - - - - Ensembl - ENSG00000100427 - - - Genatlas - MLC1 - - - HGNC - 17082 - - - OMIM - 605908 - - - SwissProt - Q15049 - - - ClinVar - MLC1 - - - - - 22q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301707[PMID] - - hepatic and glial cell adhesion molecule - HEPACAM - - FLJ25530 - GLIALCAM - glial cell adhesion molecule - hepaCAM - - - gene with protein product - - - - Ensembl - ENSG00000165478 - - - Genatlas - HEPACAM - - - HGNC - 26361 - - - OMIM - 611642 - - - SwissProt - Q14CZ8 - - - ClinVar - HEPACAM - - - - - 11q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3337 - Primary Fanconi renotubular syndrome - - Disease - - - Disorder - - - - 24401050[PMID] - - enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase - EHHADH - - - - gene with protein product - - - - Reactome - Q08426 - - - ClinVar - EHHADH - - - Ensembl - ENSG00000113790 - - - Genatlas - EHHADH - - - HGNC - 3247 - - - OMIM - 607037 - - - SwissProt - Q08426 - - - - - 3q27.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29654216[PMID] - - glycine amidinotransferase - GATM - - L-arginine:glycine amidinotransferase - AGAT - - - gene with protein product - - - - IUPHAR - 1246 - - - ClinVar - GATM - - - Ensembl - ENSG00000171766 - - - Genatlas - GATM - - - HGNC - 4175 - - - OMIM - 602360 - - - Reactome - P50440 - - - SwissProt - P50440 - - - - - 15q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20335586[PMID] - - solute carrier family 34 member 1 - SLC34A1 - - NAPI-3 - NPTIIa - Na+-phosphate cotransporter type II - SLC11 - sodium/phosphate co-transporter - solute carrier family 17 (sodium phosphate), member 2 - - - gene with protein product - - - - IUPHAR - 1135 - - - Ensembl - ENSG00000131183 - - - Genatlas - SLC34A1 - - - HGNC - 11019 - - - OMIM - 182309 - - - Reactome - Q06495 - - - SwissProt - Q06495 - - - ClinVar - SLC34A1 - - - - - 5q35.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 27466185[PMID] - - NADH:ubiquinone oxidoreductase complex assembly factor 6 - NDUFAF6 - - MGC40214 - long non-coding RNA REplication STress - lncREST - - - gene with protein product - - - - Ensembl - ENSG00000156170 - - - Genatlas - NDUFAF6 - - - HGNC - 28625 - - - OMIM - 612392 - - - Reactome - Q330K2 - - - SwissProt - Q330K2 - - - ClinVar - NDUFAF6 - - - - - 8q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223 - Arginine vasopressin resistance - - Disease - - - Disorder - - - - 20301356[PMID] - - arginine vasopressin receptor 2 - AVPR2 - - V2R - nephrogenic diabetes insipidus - - - gene with protein product - - - - ClinVar - AVPR2 - - - HGNC - 897 - - - IUPHAR - 368 - - - OMIM - 300538 - - - Reactome - P30518 - - - SwissProt - P30518 - - - Ensembl - ENSG00000126895 - - - Genatlas - AVPR2 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301356[PMID] - - aquaporin 2 - AQP2 - - - - gene with protein product - - - - IUPHAR - 689 - - - ClinVar - AQP2 - - - Ensembl - ENSG00000167580 - - - Genatlas - AQP2 - - - HGNC - 634 - - - OMIM - 107777 - - - Reactome - P41181 - - - SwissProt - P41181 - - - - - 12q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 228423 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228423 - GATA2 deficiency spectrum - - Disease - - - Disorder - - - - 21765025[PMID]_21670465[PMID] - - GATA binding protein 2 - GATA2 - - NFE1B - - - gene with protein product - - - - Ensembl - ENSG00000179348 - - - Genatlas - GATA2 - - - HGNC - 4171 - - - OMIM - 137295 - - - Reactome - P23769 - - - SwissProt - P23769 - - - ClinVar - GATA2 - - - - - 3q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 521 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521 - Chronic myeloid leukemia - - Disease - - - Disorder - - - - - - BCR activator of RhoGEF and GTPase - BCR - - ALL - CML - D22S662 - PHL - - - gene with protein product - - - - ClinVar - BCR - - - Ensembl - ENSG00000186716 - - - Genatlas - BCR - - - HGNC - 1014 - - - IUPHAR - 2755 - - - OMIM - 151410 - - - Reactome - P11274 - - - SwissProt - P11274 - - - - - 22q11.23 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - ABL proto-oncogene 1, non-receptor tyrosine kinase - ABL1 - - JTK7 - c-ABL - p150 - - - gene with protein product - - - - ClinVar - ABL1 - - - OMIM - 189980 - - - Reactome - P00519 - - - SwissProt - P00519 - - - Ensembl - ENSG00000097007 - - - Genatlas - ABL1 - - - HGNC - 76 - - - IUPHAR - 1923 - - - - - 9q34.12 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 22318203[PMID] - - RUNX family transcription factor 1 - RUNX1 - - AMLCR1 - PEBP2A2 - aml1 oncogene - - - gene with protein product - - - - ClinVar - RUNX1 - - - Ensembl - ENSG00000159216 - - - Genatlas - RUNX1 - - - HGNC - 10471 - - - OMIM - 151385 - - - Reactome - Q01196 - - - SwissProt - Q01196 - - - - - 21q22.12 - 1 - - - - - Biomarker tested in - - - Assessed - - - - - - 228415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228415 - 5q35 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - 24819041[PMID] - - nuclear receptor binding SET domain protein 1 - NSD1 - - ARA267 - FLJ22263 - KMT3B - histone-lysine N-methyltransferase, H3 lysine-36 specific - - - gene with protein product - - - - ClinVar - NSD1 - - - IUPHAR - 2696 - - - Ensembl - ENSG00000165671 - - - Genatlas - NSD1 - - - HGNC - 14234 - - - OMIM - 606681 - - - Reactome - Q96L73 - - - SwissProt - Q96L73 - - - - - 5q35.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=132 - Hereditary butyrylcholinesterase deficiency - - Disease - - - Disorder - - - - 25054547[PMID]_25448037[PMID] - - butyrylcholinesterase - BCHE - - E1 - - - gene with protein product - - - - ClinVar - BCHE - - - SwissProt - P06276 - - - Ensembl - ENSG00000114200 - - - Genatlas - BCHE - - - HGNC - 983 - - - IUPHAR - 2471 - - - OMIM - 177400 - - - Reactome - P06276 - - - - - 3q26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 228426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228426 - Syndromic multisystem autoimmune disease due to Itch deficiency - - Disease - - - Disorder - - - - 20170897[PMID] - - itchy E3 ubiquitin protein ligase - ITCH - - AIP4 - - - gene with protein product - - - - Ensembl - ENSG00000078747 - - - Genatlas - ITCH - - - HGNC - 13890 - - - OMIM - 606409 - - - Reactome - Q96J02 - - - SwissProt - Q96J02 - - - ClinVar - ITCH - - - - - 20q11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2345 - Isolated Klippel-Feil syndrome - - Malformation syndrome - - - Disorder - - - - 19864492[PMID] - - growth differentiation factor 3 - GDF3 - - - - gene with protein product - - - - ClinVar - GDF3 - - - OMIM - 606522 - - - SwissProt - Q9NR23 - - - Ensembl - ENSG00000184344 - - - Genatlas - GDF3 - - - HGNC - 4218 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23290072[PMID] - - mesenchyme homeobox 1 - MEOX1 - - MOX1 - - - gene with protein product - - - - Ensembl - ENSG00000005102 - - - Genatlas - MEOX1 - - - HGNC - 7013 - - - OMIM - 600147 - - - SwissProt - P50221 - - - Reactome - P50221 - - - ClinVar - MEOX1 - - - - - 17q21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18425797[PMID] - - growth differentiation factor 6 - GDF6 - - BMP13 - KFS - KFS1 - - - gene with protein product - - - - ClinVar - GDF6 - - - Ensembl - ENSG00000156466 - - - Genatlas - GDF6 - - - HGNC - 4221 - - - OMIM - 601147 - - - SwissProt - Q6KF10 - - - - - 8q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1333 - Familial pancreatic carcinoma - - Disease - - - Disorder - - - - 18855126[PMID] - - BRCA1 DNA repair associated - BRCA1 - - BRCA1/BRCA2-containing complex, subunit 1 - BRCC1 - FANCS - Fanconi anemia, complementation group S - PPP1R53 - RNF53 - protein phosphatase 1, regulatory subunit 53 - - - gene with protein product - - - - Ensembl - ENSG00000012048 - - - Genatlas - BRCA1 - - - HGNC - 1100 - - - OMIM - 113705 - - - Reactome - P38398 - - - SwissProt - P38398 - - - ClinVar - BRCA1 - - - - - 17q21.31 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 12569143[PMID] - - BRCA2 DNA repair associated - BRCA2 - - BRCA1/BRCA2-containing complex, subunit 2 - BRCC2 - FAD - FAD1 - XRCC11 - - - gene with protein product - - - - SwissProt - P51587 - - - Ensembl - ENSG00000139618 - - - Genatlas - BRCA2 - - - HGNC - 1101 - - - OMIM - 600185 - - - Reactome - P51587 - - - ClinVar - BRCA2 - - - - - 13q13.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 25240578[PMID] - - cyclin dependent kinase inhibitor 2A - CDKN2A - - ARF - CDK4I - CMM2 - INK4 - INK4a - MTS1 - p14 - p14ARF - p16 - p16INK4a - p19 - p19Arf - inhibitor of cdk4 A - P16-INK4A - CDKN2A/ARF Intron 2 lncRNA - multiple tumour suppressor 1 - cyclin-dependent kinase 4 inhibitor A - p14 alternate open reading frame - p19 alternate open reading frame - CAI2 - - - gene with protein product - - - - Ensembl - ENSG00000147889 - - - Genatlas - CDKN2A - - - HGNC - 1787 - - - OMIM - 600160 - - - Reactome - P42771 - - - SwissProt - P42771 - - - ClinVar - CDKN2A - - - - - 9p21.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 25240578[PMID] - - SMAD family member 4 - SMAD4 - - DPC4 - - - gene with protein product - - - - ClinVar - SMAD4 - - - Ensembl - ENSG00000141646 - - - Genatlas - SMAD4 - - - HGNC - 6770 - - - OMIM - 600993 - - - Reactome - Q13485 - - - SwissProt - Q13485 - - - - - 18q21.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 25240578[PMID] - - tumor protein p53 - TP53 - - LFS1 - Li-Fraumeni syndrome - P53 - p53 - - - gene with protein product - - - - Ensembl - ENSG00000141510 - - - Genatlas - TP53 - - - HGNC - 11998 - - - OMIM - 191170 - - - Reactome - P04637 - - - SwissProt - P04637 - - - ClinVar - TP53 - - - - - 17p13.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 25240578[PMID] - - KRAS proto-oncogene, GTPase - KRAS - - KRAS1 - K-Ras4B - - - gene with protein product - - - - IUPHAR - 2824 - - - ClinVar - KRAS - - - Ensembl - ENSG00000133703 - - - Genatlas - KRAS - - - HGNC - 6407 - - - OMIM - 190070 - - - Reactome - P01116 - - - SwissProt - P01116 - - - - - 12p12.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 20412113[PMID]_21365267[PMID] - - partner and localizer of BRCA2 - PALB2 - - Fanconi anemia, complementation group N - FANCN - FLJ21816 - - - gene with protein product - - - - ClinVar - PALB2 - - - Ensembl - ENSG00000083093 - - - Genatlas - PALB2 - - - HGNC - 26144 - - - OMIM - 610355 - - - Reactome - Q86YC2 - - - SwissProt - Q86YC2 - - - - - 16p12.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 17194196[PMID] - - palladin, cytoskeletal associated protein - PALLD - - CGI-151 - KIAA0992 - SIH002 - - - gene with protein product - - - - ClinVar - PALLD - - - Ensembl - ENSG00000129116 - - - Genatlas - PALLD - - - HGNC - 17068 - - - OMIM - 608092 - - - SwissProt - Q8WX93 - - - - - 4q32.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 31406347[PMID] - - RAB, member of RAS oncogene family like 3 - RABL3 - - MGC23920 - - - gene with protein product - - - - HGNC - 18072 - - - Ensembl - ENSG00000144840 - - - OMIM - 618542 - - - SwissProt - Q5HYI8 - - - - - 3q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 228429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228429 - Congenital generalized lipodystrophy type 4 - - Clinical subtype - - - Subtype of disorder - - - - 20684003[PMID]_27894728[PMID] - - caveolae associated protein 1 - CAVIN1 - - cavin-1 - congenital generalized lipodystrophy 4 - CGL4 - - - gene with protein product - - - - Ensembl - ENSG00000177469 - - - Genatlas - PTRF - - - HGNC - 9688 - - - OMIM - 603198 - - - Reactome - Q6NZI2 - - - SwissProt - Q6NZI2 - - - ClinVar - PTRF - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 228387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228387 - Spondylo-megaepiphyseal-metaphyseal dysplasia - - Disease - - - Disorder - - - - 20004766[PMID] - - NK3 homeobox 2 - NKX3-2 - - NKX3.2 - NKX3B - - - gene with protein product - - - - Ensembl - ENSG00000109705 - - - Genatlas - NKX3-2 - - - HGNC - 951 - - - OMIM - 602183 - - - SwissProt - P78367 - - - ClinVar - NKX3-2 - - - - - 4p15.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 228390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228390 - Frontonasal dysplasia-alopecia-genital anomalies syndrome - - Malformation syndrome - - - Disorder - - - - 23401352[PMID] - - ALX homeobox 4 - ALX4 - - FPP - KIAA1788 - PFM - - - gene with protein product - - - - Ensembl - ENSG00000052850 - - - Genatlas - ALX4 - - - HGNC - 450 - - - OMIM - 605420 - - - SwissProt - Q9H161 - - - ClinVar - ALX4 - - - - - 11p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 228402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228402 - 2q23.1 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - 19809484[PMID] - - methyl-CpG binding domain protein 5 - MBD5 - - FLJ11113 - KIAA1461 - - - gene with protein product - - - - Ensembl - ENSG00000204406 - - - Genatlas - MBD5 - - - HGNC - 20444 - - - OMIM - 611472 - - - SwissProt - Q9P267 - - - ClinVar - MBD5 - - - Reactome - Q9P267 - - - - - 2q23.1 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 228366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228366 - CLN7 disease - - Disease - - - Disorder - - - - 34733232[PMID]_27238410[PMID] - - major facilitator superfamily domain containing 8 - MFSD8 - - MGC33302 - SLC74A1 - - - gene with protein product - - - - ClinVar - MFSD8 - - - Ensembl - ENSG00000164073 - - - Genatlas - MFSD8 - - - HGNC - 28486 - - - OMIM - 611124 - - - SwissProt - Q8NHS3 - - - - - 4q28.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 228360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228360 - CLN5 disease - - Disease - - - Disorder - - - - 2412666[PMID]_34733232[PMID]_34684815[PMID] - - CLN5 intracellular trafficking protein - CLN5 - - - - gene with protein product - - - - ClinVar - CLN5 - - - Ensembl - ENSG00000102805 - - - Genatlas - CLN5 - - - HGNC - 2076 - - - OMIM - 608102 - - - SwissProt - O75503 - - - - - 13q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 228384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228384 - 5q14.3 microdeletion syndrome - - Etiological subtype - - - Subtype of disorder - - - - 20513142[PMID] - - myocyte enhancer factor 2C - MEF2C - - - - gene with protein product - - - - Reactome - Q06413 - - - SwissProt - Q06413 - - - Ensembl - ENSG00000081189 - - - Genatlas - MEF2C - - - HGNC - 6996 - - - OMIM - 600662 - - - ClinVar - MEF2C - - - - - 5q14.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 228374 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228374 - Charcot-Marie-Tooth disease type 2B5 - - Disease - - - Disorder - - - - 20039262[PMID] - - neurofilament light chain - NEFL - - CMT1F - CMT2E - NF68 - NFL - PPP1R110 - protein phosphatase 1, regulatory subunit 110 - - - gene with protein product - - - - Ensembl - ENSG00000277586 - - - Genatlas - NEFL - - - HGNC - 7739 - - - OMIM - 162280 - - - Reactome - P07196 - - - SwissProt - P07196 - - - ClinVar - NEFL - - - - - 8p21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 228343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228343 - CLN4 disease - - Disease - - - Disorder - - - - 27629553[PMID] - - DnaJ heat shock protein family (Hsp40) member C5 - DNAJC5 - - DNAJC5A - FLJ00118 - FLJ13070 - - - gene with protein product - - - - ClinVar - DNAJC5 - - - Ensembl - ENSG00000101152 - - - Genatlas - DNAJC5 - - - HGNC - 16235 - - - OMIM - 611203 - - - Reactome - Q9H3Z4 - - - SwissProt - Q9H3Z4 - - - - - 20q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 228302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228302 - Carnitine palmitoyl transferase II deficiency, myopathic form - - Clinical subtype - - - Subtype of disorder - - - - - - carnitine palmitoyltransferase 2 - CPT2 - - CPTASE - - - gene with protein product - - - - Genatlas - CPT2 - - - HGNC - 2330 - - - OMIM - 600650 - - - Reactome - P23786 - - - SwissProt - P23786 - - - Ensembl - ENSG00000157184 - - - IUPHAR - 3252 - - - ClinVar - CPT2 - - - - - 1p32.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 228305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228305 - Carnitine palmitoyl transferase II deficiency, severe infantile form - - Clinical subtype - - - Subtype of disorder - - - - - - carnitine palmitoyltransferase 2 - CPT2 - - CPTASE - - - gene with protein product - - - - Genatlas - CPT2 - - - HGNC - 2330 - - - OMIM - 600650 - - - Reactome - P23786 - - - SwissProt - P23786 - - - Ensembl - ENSG00000157184 - - - IUPHAR - 3252 - - - ClinVar - CPT2 - - - - - 1p32.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 228308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228308 - Carnitine palmitoyl transferase II deficiency, neonatal form - - Clinical subtype - - - Subtype of disorder - - - - - - carnitine palmitoyltransferase 2 - CPT2 - - CPTASE - - - gene with protein product - - - - Genatlas - CPT2 - - - HGNC - 2330 - - - OMIM - 600650 - - - Reactome - P23786 - - - SwissProt - P23786 - - - Ensembl - ENSG00000157184 - - - IUPHAR - 3252 - - - ClinVar - CPT2 - - - - - 1p32.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3203 - Overhydrated hereditary stomatocytosis - - Disease - - - Disorder - - - - 23664421[PMID] - - Rh associated glycoprotein - RHAG - - CD241 - RH50A - SLC42A1 - Ammonium transporter Rh type A - - - gene with protein product - - - - ClinVar - RHAG - - - OMIM - 180297 - - - Reactome - Q02094 - - - SwissProt - Q02094 - - - Ensembl - ENSG00000112077 - - - Genatlas - RHAG - - - HGNC - 10006 - - - IUPHAR - 1198 - - - - - 6p12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3202 - Dehydrated hereditary stomatocytosis - - Disease - - - Disorder - - - - 16227998[PMID] - - solute carrier family 4 member 1 (Diego blood group) - SLC4A1 - - CD233 - FR - Froese blood group - RTA1A - SW - Swann blood group - WR - Wright blood group - EMPB3 - Band 3 anion transport protein - - - gene with protein product - - - - ClinVar - SLC4A1 - - - IUPHAR - 904 - - - OMIM - 109270 - - - Reactome - P02730 - - - SwissProt - P02730 - - - Ensembl - ENSG00000004939 - - - Genatlas - SLC4A1 - - - HGNC - 11027 - - - - - 17q21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22529292[PMID]_23695678[PMID] - - piezo type mechanosensitive ion channel component 1 (Er blood group) - PIEZO1 - - KIAA0233 - - - gene with protein product - - - - IUPHAR - 2945 - - - ClinVar - PIEZO1 - - - Ensembl - ENSG00000103335 - - - Genatlas - PIEZO1 - - - HGNC - 28993 - - - OMIM - 611184 - - - SwissProt - Q92508 - - - - - 16q24.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 26148990[PMID]_26198474[PMID] - - potassium calcium-activated channel subfamily N member 4 - KCNN4 - - IK - KCa3.1 - hIKCa1 - hKCa4 - hSK4 - intermediate conductance calcium-activated potassium channel - small conductance calcium-activated potassium channel 4 - - - gene with protein product - - - - Ensembl - ENSG00000104783 - - - Genatlas - KCNN4 - - - HGNC - 6293 - - - IUPHAR - 384 - - - OMIM - 602754 - - - Reactome - O15554 - - - SwissProt - O15554 - - - ClinVar - KCNN4 - - - - - 19q13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 228140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228140 - Idiopathic ventricular fibrillation - - Disease - - - Disorder - - - - 10940383[PMID] - - sodium voltage-gated channel alpha subunit 5 - SCN5A - - CDCD2 - CMPD2 - HB1 - HB2 - HBBD - HH1 - ICCD - IVF - LQT3 - Nav1.5 - PFHB1 - SSS1 - long QT syndrome 3 - - - gene with protein product - - - - ClinVar - SCN5A - - - Ensembl - ENSG00000183873 - - - Genatlas - SCN5A - - - HGNC - 10593 - - - IUPHAR - 582 - - - OMIM - 600163 - - - Reactome - Q14524 - - - SwissProt - Q14524 - - - - - 3p22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19285295[PMID]_21512816[PMID] - - dipeptidyl peptidase like 6 - DPP6 - - DPL1 - DPPX - - - gene with protein product - - - - Ensembl - ENSG00000130226 - - - Genatlas - DPP6 - - - HGNC - 3010 - - - OMIM - 126141 - - - SwissProt - P42658 - - - ClinVar - DPP6 - - - - - 7q36.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1018 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1018 - X-linked Alport syndrome-diffuse leiomyomatosis - - Clinical subtype - - - Subtype of disorder - - - - 20951201[PMID] - - collagen type IV alpha 6 chain - COL4A6 - - - - gene with protein product - - - - ClinVar - COL4A6 - - - HGNC - 2208 - - - OMIM - 303631 - - - Reactome - Q14031 - - - SwissProt - Q14031 - - - Ensembl - ENSG00000197565 - - - Genatlas - COL4A6 - - - - - Xq22.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 20951201[PMID] - - collagen type IV alpha 5 chain - COL4A5 - - - - gene with protein product - - - - ClinVar - COL4A5 - - - Ensembl - ENSG00000188153 - - - Genatlas - COL4A5 - - - HGNC - 2207 - - - OMIM - 303630 - - - Reactome - P29400 - - - SwissProt - P29400 - - - - - Xq22.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306 - Self-limited infantile epilepsy - - Disease - - - Disorder - - - - 26677014[PMID] - - sodium voltage-gated channel alpha subunit 8 - SCN8A - - CIAT - CerIII - NaCh6 - Nav1.6 - PN4 - - - gene with protein product - - - - Ensembl - ENSG00000196876 - - - Genatlas - SCN8A - - - HGNC - 10596 - - - IUPHAR - 583 - - - OMIM - 600702 - - - Reactome - Q9UQD0 - - - SwissProt - Q9UQD0 - - - ClinVar - SCN8A - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 23360469[PMID] - - sodium voltage-gated channel alpha subunit 2 - SCN2A - - HBSCI - HBSCII - Nav1.2 - - - gene with protein product - - - - ClinVar - SCN2A - - - Ensembl - ENSG00000136531 - - - Genatlas - SCN2A - - - HGNC - 10588 - - - IUPHAR - 579 - - - OMIM - 182390 - - - Reactome - Q99250 - - - SwissProt - Q99250 - - - - - 2q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - potassium voltage-gated channel subfamily Q member 2 - KCNQ2 - - BFNC - ENB1 - HNSPC - KCNA11 - Kv7.2 - - - gene with protein product - - - - ClinVar - KCNQ2 - - - Ensembl - ENSG00000075043 - - - Genatlas - KCNQ2 - - - HGNC - 6296 - - - IUPHAR - 561 - - - OMIM - 602235 - - - Reactome - O43526 - - - SwissProt - O43526 - - - - - 20q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23360469[PMID] - - potassium voltage-gated channel subfamily Q member 3 - KCNQ3 - - Kv7.3 - - - gene with protein product - - - - ClinVar - KCNQ3 - - - Ensembl - ENSG00000184156 - - - Genatlas - KCNQ3 - - - HGNC - 6297 - - - IUPHAR - 562 - - - OMIM - 602232 - - - Reactome - O43525 - - - SwissProt - O43525 - - - - - 8q24.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22243967[PMID]_22399141[PMID]_22623405[PMID] - - proline rich transmembrane protein 2 - PRRT2 - - interferon induced transmembrane protein domain containing 1 - dispanin subfamily B member 3 - DKFZp547J199 - DSPB3 - EKD1 - FICCA - FLJ25513 - IFITMD1 - Interferon induced transmembrane protein domain containing 1 - PKC - Paroxysmal kinesigenic dyskinesia - Episodic kinesigenic dyskinesia 1 - - - gene with protein product - - - - Ensembl - ENSG00000167371 - - - Genatlas - PRRT2 - - - HGNC - 30500 - - - OMIM - 614386 - - - SwissProt - Q7Z6L0 - - - ClinVar - PRRT2 - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=328 - Congenital factor X deficiency - - Disease - - - Disorder - - - - 15892863[PMID]_26222694[PMID]_26309706[PMID] - - coagulation factor X - F10 - - - - gene with protein product - - - - Ensembl - ENSG00000126218 - - - Genatlas - F10 - - - HGNC - 3528 - - - IUPHAR - 2359 - - - OMIM - 613872 - - - Reactome - P00742 - - - SwissProt - P00742 - - - ClinVar - F10 - - - - - 13q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 228174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228174 - Autosomal dominant Charcot-Marie-Tooth disease type 2N - - Disease - - - Disorder - - - - 20301462[PMID] - - alanyl-tRNA synthetase 1 - AARS1 - - AlaRS - CMT2N - alanine tRNA ligase 1, cytoplasmic - - - gene with protein product - - - - Ensembl - ENSG00000090861 - - - Genatlas - AARS - - - HGNC - 20 - - - OMIM - 601065 - - - Reactome - P49588 - - - SwissProt - P49588 - - - ClinVar - AARS - - - - - 16q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 228169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228169 - Autosomal dominant striatal neurodegeneration - - Disease - - - Disorder - - - - 20085714[PMID] - - phosphodiesterase 8B - PDE8B - - High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B - - - gene with protein product - - - - ClinVar - PDE8B - - - Reactome - O95263 - - - SwissProt - O95263 - - - Ensembl - ENSG00000113231 - - - Genatlas - PDE8B - - - HGNC - 8794 - - - OMIM - 603390 - - - IUPHAR - 1308 - - - - - 5q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2132 - Hemoglobin C disease - - Disease - - - Disorder - - - - 21886666[PMID] - - hemoglobin subunit beta - HBB - - CD113t-C - beta-globin - - - gene with protein product - - - - ClinVar - HBB - - - HGNC - 4827 - - - OMIM - 141900 - - - Reactome - P68871 - - - SwissProt - P68871 - - - Ensembl - ENSG00000244734 - - - Genatlas - HBB - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2133 - Hemoglobin E disease - - Disease - - - Disorder - - - - 21886666[PMID] - - hemoglobin subunit beta - HBB - - CD113t-C - beta-globin - - - gene with protein product - - - - ClinVar - HBB - - - HGNC - 4827 - - - OMIM - 141900 - - - Reactome - P68871 - - - SwissProt - P68871 - - - Ensembl - ENSG00000244734 - - - Genatlas - HBB - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 228179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228179 - Autosomal dominant Charcot-Marie-Tooth disease type 2M - - Disease - - - Disorder - - - - 18394888[PMID]_17636067[PMID] - - dynamin 2 - DNM2 - - CMT2M - CMTDI1 - CMTDIB - DI-CMTB - DYN2 - DYNII - cytoskeletal protein - dynamin II - - - gene with protein product - - - - ClinVar - DNM2 - - - Ensembl - ENSG00000079805 - - - Genatlas - DNM2 - - - HGNC - 2974 - - - OMIM - 602378 - - - Reactome - P50570 - - - SwissProt - P50570 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=288 - Hereditary elliptocytosis - - Disease - - - Disorder - - - - 23664421[PMID] - - spectrin alpha, erythrocytic 1 - SPTA1 - - EL2 - elliptocytosis 2 - - - gene with protein product - - - - Ensembl - ENSG00000163554 - - - Genatlas - SPTA1 - - - HGNC - 11272 - - - OMIM - 182860 - - - Reactome - P02549 - - - SwissProt - P02549 - - - ClinVar - SPTA1 - - - - - 1q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23664421[PMID] - - spectrin beta, erythrocytic - SPTB - - spherocytosis, clinical type I - - - gene with protein product - - - - Ensembl - ENSG00000070182 - - - Genatlas - SPTB - - - HGNC - 11274 - - - OMIM - 182870 - - - Reactome - P11277 - - - SwissProt - P11277 - - - ClinVar - SPTB - - - - - 14q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23664421[PMID] - - erythrocyte membrane protein band 4.1 - EPB41 - - 4.1R - - - gene with protein product - - - - Reactome - P11171 - - - HGNC - 3377 - - - OMIM - 130500 - - - SwissProt - P11171 - - - Ensembl - ENSG00000159023 - - - Genatlas - EPB41 - - - ClinVar - EPB41 - - - IUPHAR - 3151 - - - - - 1p35.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 1884026[PMID]_8353290[PMID] - - glycophorin C (Gerbich blood group) - GYPC - - CD236 - CD236R - GPC - GYPD - Ge - glycophorin D - GPD - Gerbich antigen - sialoglycoprotein D - - - gene with protein product - - - - SwissProt - P04921 - - - Ensembl - ENSG00000136732 - - - Genatlas - GYPC - - - HGNC - 4704 - - - OMIM - 110750 - - - Reactome - P04921 - - - ClinVar - GYPC - - - - - 2q14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 231531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231531 - Hermansky-Pudlak syndrome due to BLOC-1 deficiency - - Clinical subtype - - - Subtype of disorder - - - - 12923531[PMID] - - dystrobrevin binding protein 1 - DTNBP1 - - BLOC1S8 - DBND - Dysbindin - HPS7 - My031 - biogenesis of lysosomal organelles complex-1, subunit 8 - dysbindin-1 - - - gene with protein product - - - - ClinVar - DTNBP1 - - - Ensembl - ENSG00000047579 - - - Genatlas - DTNBP1 - - - HGNC - 17328 - - - OMIM - 607145 - - - Reactome - Q96EV8 - - - SwissProt - Q96EV8 - - - - - 6p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16420244[PMID]_27514596[PMID]_20301464[PMID] - - biogenesis of lysosomal organelles complex 1 subunit 5 - BLOC1S5 - - MU - dJ303A1.3 - - - gene with protein product - - - - HGNC - 18561 - - - OMIM - 607289 - - - SwissProt - Q8TDH9 - - - Ensembl - ENSG00000188428 - - - - - 6p24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16420244[PMID]_27514596[PMID]_20301464[PMID] - - biogenesis of lysosomal organelles complex 1 subunit 3 - BLOC1S3 - - BLOC-1 subunit 3 - BLOS3 - Biogenesis of Lysosome-related Organelles complex-1 Subunit 3 - HPS8 - Hermansky-Pudlak syndrome 8 - - - gene with protein product - - - - ClinVar - BLOC1S3 - - - Ensembl - ENSG00000189114 - - - Genatlas - BLOC1S3 - - - HGNC - 20914 - - - OMIM - 609762 - - - Reactome - Q6QNY0 - - - SwissProt - Q6QNY0 - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16420244[PMID]_27514596[PMID]_20301464[PMID] - - biogenesis of lysosomal organelles complex 1 subunit 6 - BLOC1S6 - - HPS9 - BLOC-1 subunit pallidin - - - gene with protein product - - - - ClinVar - PLDN - - - OMIM - 604310 - - - Reactome - Q9UL45 - - - SwissProt - Q9UL45 - - - Ensembl - ENSG00000104164 - - - Genatlas - PLDN - - - HGNC - 8549 - - - - - 15q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 231512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231512 - Hermansky-Pudlak syndrome due to BLOC-2 deficiency - - Clinical subtype - - - Subtype of disorder - - - - - - HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 - HPS3 - - BLOC2S1 - SUTAL - - - gene with protein product - - - - Ensembl - ENSG00000163755 - - - Genatlas - HPS3 - - - HGNC - 15597 - - - OMIM - 606118 - - - SwissProt - Q969F9 - - - ClinVar - HPS3 - - - - - 3q24 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 - HPS5 - - BLOC2S2 - RU2 - AIBP63 - Ruby-eye protein 2 homolog - alpha-integrin-binding protein 63 - - - gene with protein product - - - - Ensembl - ENSG00000110756 - - - Genatlas - HPS5 - - - HGNC - 17022 - - - OMIM - 607521 - - - SwissProt - Q9UPZ3 - - - ClinVar - HPS5 - - - - - 11p15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 - HPS6 - - BLOC2S3 - FLJ22501 - - - gene with protein product - - - - Ensembl - ENSG00000166189 - - - Genatlas - HPS6 - - - HGNC - 18817 - - - OMIM - 607522 - - - SwissProt - Q86YV9 - - - ClinVar - HPS6 - - - - - 10q24.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=256 - Early-onset generalized limb-onset dystonia - - Disease - - - Disorder - - - - 20301665[PMID] - - torsin family 1 member A - TOR1A - - DQ2 - torsin A - torsin-1A - torsinA - - - gene with protein product - - - - Ensembl - ENSG00000136827 - - - Genatlas - TOR1A - - - HGNC - 3098 - - - OMIM - 605204 - - - SwissProt - O14656 - - - ClinVar - TOR1A - - - Reactome - O14656 - - - - - 9q34.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33236446[PMID] - - eukaryotic translation initiation factor 2 alpha kinase 2 - EIF2AK2 - - protein phosphatase 1, regulatory subunit 83 - PKR - Protein Kinase RNA-activated - PPP1R83 - protein kinase RNA-regulated - Protein Kinase R - - - gene with protein product - - - - HGNC - 9437 - - - Ensembl - ENSG00000055332 - - - OMIM - 176871 - - - IUPHAR - 2016 - - - SwissProt - P19525 - - - - - 2p22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34542157[PMID] - - SHQ1, H/ACA ribonucleoprotein assembly factor - SHQ1 - - Shq1p - FLJ10539 - - - gene with protein product - - - - HGNC - 25543 - - - OMIM - 613663 - - - SwissProt - Q6PI26 - - - Ensembl - ENSG00000144736 - - - - - 3p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 231500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231500 - Hermansky-Pudlak syndrome due to BLOC-3 deficiency - - Clinical subtype - - - Subtype of disorder - - - - - - HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 - HPS1 - - BLOC3S1 - - - gene with protein product - - - - Ensembl - ENSG00000107521 - - - Genatlas - HPS1 - - - HGNC - 5163 - - - OMIM - 604982 - - - SwissProt - Q92902 - - - ClinVar - HPS1 - - - Reactome - Q92902 - - - - - 10q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 - HPS4 - - BLOC3S2 - KIAA1667 - LE - - - gene with protein product - - - - HGNC - 15844 - - - OMIM - 606682 - - - SwissProt - Q9NQG7 - - - Ensembl - ENSG00000100099 - - - Genatlas - HPS4 - - - ClinVar - HPS4 - - - Reactome - Q9NQG7 - - - - - 22q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2073 - Narcolepsy type 1 - - Disease - - - Disorder - - - - 10973318[PMID]_23643651[PMID] - - hypocretin neuropeptide precursor - HCRT - - OX - PPOX - prepro-orexin - orexin - - - gene with protein product - - - - ClinVar - HCRT - - - SwissProt - O43612 - - - Ensembl - ENSG00000161610 - - - Genatlas - HCRT - - - HGNC - 4847 - - - OMIM - 602358 - - - Reactome - O43612 - - - - - 17q21.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 18706091[PMID]_19410508[PMID] - - major histocompatibility complex, class II, DR beta 1 - HLA-DRB1 - - - - gene with protein product - - - - ClinVar - HLA-DRB1 - - - Ensembl - ENSG00000196126 - - - Genatlas - HLA-DRB1 - - - HGNC - 4948 - - - OMIM - 142857 - - - Reactome - P04229 - - - SwissProt - P01911 - - - - - 6p21.32 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 18706091[PMID] - - major histocompatibility complex, class II, DQ beta 1 - HLA-DQB1 - - CELIAC1 - IDDM1 - - - gene with protein product - - - - ClinVar - HLA-DQB1 - - - Ensembl - ENSG00000179344 - - - Genatlas - HLA-DQB1 - - - HGNC - 4944 - - - OMIM - 604305 - - - Reactome - P01920 - - - SwissProt - P01920 - - - - - 6p21.32 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 21907016[PMID] - - myelin oligodendrocyte glycoprotein - MOG - - BTN6 - BTNL11 - - - gene with protein product - - - - ClinVar - MOG - - - Ensembl - ENSG00000204655 - - - Genatlas - MOG - - - HGNC - 7197 - - - OMIM - 159465 - - - SwissProt - Q16653 - - - - - 6p22.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23459209[PMID] - - TNF superfamily member 4 - TNFSF4 - - CD252 - OX-40L - gp34 - - - gene with protein product - - - - Ensembl - ENSG00000117586 - - - Genatlas - TNFSF4 - - - HGNC - 11934 - - - OMIM - 603594 - - - Reactome - P23510 - - - SwissProt - P23510 - - - ClinVar - TNFSF4 - - - - - 1q25.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 24204295[PMID] - - purinergic receptor P2Y11 - P2RY11 - - P2Y11 - - - gene with protein product - - - - Ensembl - ENSG00000244165 - - - Genatlas - P2RY11 - - - HGNC - 8540 - - - IUPHAR - 327 - - - OMIM - 602697 - - - Reactome - Q96G91 - - - SwissProt - Q96G91 - - - ClinVar - P2RY11 - - - - - 19p13.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 24204295[PMID] - - zinc finger protein 365 - ZNF365 - - KIAA0844 - Talanin - UAN - Su48 - - - gene with protein product - - - - SwissProt - Q70YC5 - - - Genatlas - ZNF365 - - - HGNC - 18194 - - - OMIM - 607818 - - - SwissProt - Q70YC4 - - - Ensembl - ENSG00000138311 - - - ClinVar - ZNF365 - - - - - 10q21.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23459209[PMID] - - cathepsin H - CTSH - - ACC-4 - ACC-5 - ACC4 - ACC5 - - - gene with protein product - - - - Ensembl - ENSG00000103811 - - - Genatlas - CTSH - - - HGNC - 2535 - - - IUPHAR - 2349 - - - OMIM - 116820 - - - Reactome - P09668 - - - SwissProt - P09668 - - - ClinVar - CTSH - - - - - 15q25.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 231401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231401 - Alpha-thalassemia-myelodysplastic syndrome - - Disease - - - Disorder - - - - - - ATRX chromatin remodeler - ATRX - - RAD54 homolog (S. cerevisiae) - XH2 - XNP - - - gene with protein product - - - - Ensembl - ENSG00000085224 - - - Genatlas - ATRX - - - HGNC - 886 - - - OMIM - 300032 - - - SwissProt - P46100 - - - Reactome - P46100 - - - ClinVar - ATRX - - - - - Xq21.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 231393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231393 - Beta-thalassemia-X-linked thrombocytopenia syndrome - - Disease - - - Disorder - - - - 20301538[PMID] - - GATA binding protein 1 - GATA1 - - ERYF1 - GATA-1 - NF-E1 - NFE1 - nuclear factor, erythroid 1 - - - gene with protein product - - - - ClinVar - GATA1 - - - Ensembl - ENSG00000102145 - - - Genatlas - GATA1 - - - HGNC - 4170 - - - OMIM - 305371 - - - Reactome - P15976 - - - SwissProt - P15976 - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1309 - Medullary sponge kidney - - Morphological anomaly - - - Disorder - - - - 33305128[PMID] - - HNF1 homeobox B - HNF1B - - HNF1beta - LFB3 - MODY5 - VHNF1 - HNF1ß - hepatocyte nuclear factor 1 beta - - - gene with protein product - - - - ClinVar - HNF1B - - - Ensembl - ENSG00000275410 - - - Genatlas - HNF1B - - - HGNC - 11630 - - - OMIM - 189907 - - - Reactome - P35680 - - - SwissProt - P35680 - - - - - 17q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 231249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231249 - Hemoglobin E-beta-thalassemia syndrome - - Disease - - - Disorder - - - - 21886666[PMID] - - hemoglobin subunit beta - HBB - - CD113t-C - beta-globin - - - gene with protein product - - - - ClinVar - HBB - - - HGNC - 4827 - - - OMIM - 141900 - - - Reactome - P68871 - - - SwissProt - P68871 - - - Ensembl - ENSG00000244734 - - - Genatlas - HBB - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 231242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231242 - Hemoglobin C-beta-thalassemia syndrome - - Disease - - - Disorder - - - - 21886666[PMID] - - hemoglobin subunit beta - HBB - - CD113t-C - beta-globin - - - gene with protein product - - - - ClinVar - HBB - - - HGNC - 4827 - - - OMIM - 141900 - - - Reactome - P68871 - - - SwissProt - P68871 - - - Ensembl - ENSG00000244734 - - - Genatlas - HBB - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2197 - Idiopathic hypercalciuria - - Disease - - - Disorder - - - - 11932268[PMID] - - adenylate cyclase 10 - ADCY10 - - RP1-313L4.2 - SAC - SACI - Sacy - soluble adenylyl cyclase - HCA2 - Hypercalciuria, absorptive, 2 - - - gene with protein product - - - - Ensembl - ENSG00000143199 - - - Genatlas - ADCY10 - - - HGNC - 21285 - - - OMIM - 605205 - - - Reactome - Q96PN6 - - - SwissProt - Q96PN6 - - - ClinVar - ADCY10 - - - IUPHAR - 3068 - - - - - 1q24.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 231237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231237 - Delta-beta-thalassemia - - Disease - - - Disorder - - - - 18932066[PMID] - - hemoglobin subunit beta - HBB - - CD113t-C - beta-globin - - - gene with protein product - - - - ClinVar - HBB - - - HGNC - 4827 - - - OMIM - 141900 - - - Reactome - P68871 - - - SwissProt - P68871 - - - Ensembl - ENSG00000244734 - - - Genatlas - HBB - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18932066[PMID] - - hemoglobin subunit gamma 1 - HBG1 - - HBG-T2 - fetal hemoglobin F subunit gamma 1 - - - gene with protein product - - - - Ensembl - ENSG00000213934 - - - Genatlas - HBG1 - - - HGNC - 4831 - - - OMIM - 142200 - - - Reactome - P69891 - - - SwissProt - P69891 - - - ClinVar - HBG1 - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 1301204[PMID] - - hemoglobin subunit delta - HBD - - HBK - - - gene with protein product - - - - Ensembl - ENSG00000223609 - - - Genatlas - HBD - - - HGNC - 4829 - - - OMIM - 142000 - - - Reactome - P02042 - - - SwissProt - P02042 - - - ClinVar - HBD - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 231226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231226 - Dominant beta-thalassemia - - Clinical subtype - - - Subtype of disorder - - - - 21886666[PMID] - - hemoglobin subunit beta - HBB - - CD113t-C - beta-globin - - - gene with protein product - - - - ClinVar - HBB - - - HGNC - 4827 - - - OMIM - 141900 - - - Reactome - P68871 - - - SwissProt - P68871 - - - Ensembl - ENSG00000244734 - - - Genatlas - HBB - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 231222 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231222 - Beta-thalassemia intermedia - - Clinical subtype - - - Subtype of disorder - - - - 21886666[PMID] - - hemoglobin subunit beta - HBB - - CD113t-C - beta-globin - - - gene with protein product - - - - ClinVar - HBB - - - HGNC - 4827 - - - OMIM - 141900 - - - Reactome - P68871 - - - SwissProt - P68871 - - - Ensembl - ENSG00000244734 - - - Genatlas - HBB - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 231214 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231214 - Beta-thalassemia major - - Clinical subtype - - - Subtype of disorder - - - - 21886666[PMID] - - hemoglobin subunit beta - HBB - - CD113t-C - beta-globin - - - gene with protein product - - - - ClinVar - HBB - - - HGNC - 4827 - - - OMIM - 141900 - - - Reactome - P68871 - - - SwissProt - P68871 - - - Ensembl - ENSG00000244734 - - - Genatlas - HBB - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2841 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2841 - Hailey-Hailey disease - - Disease - - - Disorder - - - - 10615129[PMID] - - ATPase secretory pathway Ca2+ transporting 1 - ATP2C1 - - ATP2C1A - KIAA1347 - PMR1 - SPCA1 - calcium-transporting ATPase type 2C member 1 - secretory pathway Ca2+/Mn2+ ATPase 1 - - - gene with protein product - - - - Genatlas - ATP2C1 - - - HGNC - 13211 - - - OMIM - 604384 - - - Reactome - P98194 - - - SwissProt - P98194 - - - Ensembl - ENSG00000017260 - - - ClinVar - ATP2C1 - - - IUPHAR - 847 - - - - - 3q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 231183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231183 - Usher syndrome type 3 - - Clinical subtype - - - Subtype of disorder - - - - 27627988[PMID] - - centrosomal protein 78 - CEP78 - - FLJ12643 - - - gene with protein product - - - - ClinVar - CEP78 - - - SwissProt - Q5JTW2 - - - OMIM - 617110 - - - Genatlas - CEP78 - - - Reactome - Q5JTW2 - - - HGNC - 25740 - - - Ensembl - ENSG00000148019 - - - - - 9q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29300381[PMID] - - arylsulfatase G - ARSG - - KIAA1001 - - - gene with protein product - - - - ClinVar - ARSG - - - SwissProt - Q96EG1 - - - OMIM - 610008 - - - HGNC - 24102 - - - Ensembl - ENSG00000141337 - - - Genatlas - ARSG - - - Reactome - Q96EG1 - - - - - 17q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19753315[PMID] - - clarin 1 - CLRN1 - - - - gene with protein product - - - - ClinVar - CLRN1 - - - Ensembl - ENSG00000163646 - - - Genatlas - CLRN1 - - - HGNC - 12605 - - - OMIM - 606397 - - - SwissProt - P58418 - - - - - 3q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - mitochondrially encoded tRNA-Ser (AGU/C) 2 - MT-TS2 - - RP8 - TRNS2 - - - Non-coding RNA - - - - SwissProt - - - - HGNC - 7498 - - - OMIM - 590085 - - - Ensembl - ENSG00000210184 - - - Genatlas - MT-TS2 - - - ClinVar - MT-TS2 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Not yet assessed - - - - 22279524[PMID] - - histidyl-tRNA synthetase 1 - HARS1 - - histidine tRNA ligase 1, cytoplasmic - Histidine tRNA ligase 1, cytoplasmic - Jo-1 antigen - HisRS - Jo‐1 antigen - - - gene with protein product - - - - Ensembl - ENSG00000170445 - - - Genatlas - HARS - - - HGNC - 4816 - - - OMIM - 142810 - - - Reactome - P12081 - - - SwissProt - P12081 - - - ClinVar - HARS - - - - - 5q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=347 - Frasier syndrome - - Disease - - - Disorder - - - - 25623218[PMID] - - WT1 transcription factor - WT1 - - AWT1 - NPHS4 - WAGR - WIT-2 - WT-1 - - - gene with protein product - - - - ClinVar - WT1 - - - Ensembl - ENSG00000184937 - - - Genatlas - WT1 - - - HGNC - 12796 - - - OMIM - 607102 - - - SwissProt - P19544 - - - Reactome - P19544 - - - - - 11p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 231178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231178 - Usher syndrome type 2 - - Clinical subtype - - - Subtype of disorder - - - - 20301515[PMID] - - usherin - USH2A - - RP39 - - - gene with protein product - - - - ClinVar - USH2A - - - HGNC - 12601 - - - OMIM - 608400 - - - SwissProt - O75445 - - - Ensembl - ENSG00000042781 - - - Genatlas - USH2A - - - - - 1q41 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301515[PMID] - - adhesion G protein-coupled receptor V1 - ADGRV1 - - DKFZp761P0710 - FEB4 - KIAA0686 - VLGR1 - - - gene with protein product - - - - ClinVar - ADGRV1 - - - Ensembl - ENSG00000164199 - - - Genatlas - ADGRV1 - - - HGNC - 17416 - - - IUPHAR - 189 - - - OMIM - 602851 - - - SwissProt - Q8WXG9 - - - - - 5q14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24831256[PMID] - - myosin VIIA - MYO7A - - NSRD2 - - - gene with protein product - - - - Ensembl - ENSG00000137474 - - - ClinVar - MYO7A - - - Genatlas - MYO7A - - - HGNC - 7606 - - - OMIM - 276903 - - - Reactome - Q13402 - - - SwissProt - Q13402 - - - - - 11q13.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301515[PMID] - - whirlin - WHRN - - CIP98 - PDZD7B - USH2D - - - gene with protein product - - - - ClinVar - DFNB31 - - - Ensembl - ENSG00000095397 - - - Genatlas - DFNB31 - - - HGNC - 16361 - - - OMIM - 607928 - - - SwissProt - Q9P202 - - - Reactome - Q9P202 - - - - - 9q32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20440071[PMID] - - PDZ domain containing 7 - PDZD7 - - FLJ23209 - bA108L7.8 - - - gene with protein product - - - - ClinVar - PDZD7 - - - Ensembl - ENSG00000186862 - - - Genatlas - PDZD7 - - - HGNC - 26257 - - - OMIM - 612971 - - - SwissProt - Q9H5P4 - - - - - 10q24.31 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - - - 2596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2596 - Myopathy and diabetes mellitus - - Disease - - - Disorder - - - - 15048886[PMID] - - mitochondrially encoded tRNA-Glu (GAA/G) - MT-TE - - trnE - - - Non-coding RNA - - - - SwissProt - - - - ClinVar - MT-TE - - - Ensembl - ENSG00000210194 - - - Genatlas - MT-TE - - - HGNC - 7479 - - - OMIM - 590025 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 231154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231154 - Combined immunodeficiency due to partial RAG1 deficiency - - Disease - - - Disorder - - - - - - recombination activating 1 - RAG1 - - MGC43321 - RING finger protein 74 - RNF74 - V(D)J recombination-activating protein 1 - recombination activating protein 1 - - - gene with protein product - - - - ClinVar - RAG1 - - - Ensembl - ENSG00000166349 - - - Genatlas - RAG1 - - - HGNC - 9831 - - - OMIM - 179615 - - - Reactome - P15918 - - - SwissProt - P15918 - - - - - 11p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2966 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2966 - Properdin deficiency - - Disease - - - Disorder - - - - 8871668[PMID] - - complement factor properdin - CFP - - - - gene with protein product - - - - ClinVar - CFP - - - Ensembl - ENSG00000126759 - - - Genatlas - CFP - - - HGNC - 8864 - - - OMIM - 300383 - - - Reactome - P27918 - - - SwissProt - P27918 - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 231160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231160 - Familial cerebral saccular aneurysm - - Disease - - - Disorder - - - - 29304371[PMID] - - angiopoietin like 6 - ANGPTL6 - - AGF - angiopoietin-related protein 5 - ARP5 - - - gene with protein product - - - - ClinVar - ANGPTL6 - - - HGNC - 23140 - - - Ensembl - ENSG00000130812 - - - SwissProt - Q8NI99 - - - OMIM - 609336 - - - Genatlas - ANGPTL6 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22241462[PMID] - - collagen type III alpha 1 chain - COL3A1 - - - - gene with protein product - - - - ClinVar - COL3A1 - - - Ensembl - ENSG00000168542 - - - Genatlas - COL3A1 - - - HGNC - 2201 - - - OMIM - 120180 - - - Reactome - P02461 - - - SwissProt - P02461 - - - - - 2q32.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 19299629[PMID] - - endoglin - ENG - - CD105 - END - HHT1 - - - gene with protein product - - - - Reactome - P17813 - - - IUPHAR - 2895 - - - ClinVar - ENG - - - Ensembl - ENSG00000106991 - - - Genatlas - ENG - - - HGNC - 3349 - - - OMIM - 131195 - - - SwissProt - P17813 - - - - - 9q34.11 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 19299629[PMID] - - transforming growth factor beta receptor 3 - TGFBR3 - - BGCAN - betaglycan - betaglycan proteoglycan - - - gene with protein product - - - - ClinVar - TGFBR3 - - - Ensembl - ENSG00000069702 - - - Genatlas - TGFBR3 - - - HGNC - 11774 - - - IUPHAR - 1796 - - - OMIM - 600742 - - - SwissProt - Q03167 - - - - - 1p22.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 27895300[PMID] - - thrombospondin type 1 domain containing 1 - THSD1 - - TMTSP - - - gene with protein product - - - - HGNC - 17754 - - - Ensembl - ENSG00000136114 - - - SwissProt - Q9NS62 - - - Reactome - Q9NS62 - - - OMIM - 616821 - - - - - 13q14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 231169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231169 - Usher syndrome type 1 - - Clinical subtype - - - Subtype of disorder - - - - 20301442[PMID] - - Usher syndrome 1K (autosomal recessive) - USH1K - - - - Disorder-associated locus - - - - HGNC - 43724 - - - Ensembl - - - - OMIM - - - - SwissProt - - - - - - 10p11.21-q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301442[PMID] - - cadherin related 23 - CDH23 - - CDHR23 - cadherin-related family member 23 - - - gene with protein product - - - - Ensembl - ENSG00000107736 - - - Genatlas - CDH23 - - - HGNC - 13733 - - - OMIM - 605516 - - - SwissProt - Q9H251 - - - ClinVar - CDH23 - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301442[PMID] - - USH1 protein network component harmonin - USH1C - - AIE-75 - NY-CO-37 - NY-CO-38 - PDZ-73 - PDZ73 - PDZD7C - harmonin - - - gene with protein product - - - - ClinVar - USH1C - - - Ensembl - ENSG00000006611 - - - Genatlas - USH1C - - - HGNC - 12597 - - - OMIM - 605242 - - - SwissProt - Q9Y6N9 - - - Reactome - Q9Y6N9 - - - - - 11p15.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301442[PMID] - - USH1 protein network component sans - USH1G - - ANKS4A - FLJ33924 - Sans - - - gene with protein product - - - - Reactome - Q495M9 - - - Ensembl - ENSG00000182040 - - - Genatlas - USH1G - - - HGNC - 16356 - - - OMIM - 607696 - - - SwissProt - Q495M9 - - - ClinVar - USH1G - - - - - 17q25.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301442[PMID] - - myosin VIIA - MYO7A - - NSRD2 - - - gene with protein product - - - - Ensembl - ENSG00000137474 - - - ClinVar - MYO7A - - - Genatlas - MYO7A - - - HGNC - 7606 - - - OMIM - 276903 - - - Reactome - Q13402 - - - SwissProt - Q13402 - - - - - 11q13.5 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301442[PMID] - - protocadherin related 15 - PCDH15 - - CDHR15 - cadherin-related family member 15 - - - gene with protein product - - - - Ensembl - ENSG00000150275 - - - Genatlas - PCDH15 - - - HGNC - 14674 - - - OMIM - 605514 - - - SwissProt - Q96QU1 - - - ClinVar - PCDH15 - - - - - 10q21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301442[PMID] - - Usher syndrome 1E (autosomal recessive, severe) - USH1E - - - - Disorder-associated locus - - - - HGNC - 12599 - - - Ensembl - - - - OMIM - - - - SwissProt - - - - - - 21q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301442[PMID] - - Usher syndrome 1H (autosomal recessive) - USH1H - - - - Disorder-associated locus - - - - OMIM - - - - SwissProt - - - - HGNC - 22433 - - - Ensembl - - - - - - 15q22-q23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23023331[PMID]_20301442[PMID] - - calcium and integrin binding family member 2 - CIB2 - - KIP2 - kinase interacting protein 2 - - - gene with protein product - - - - Ensembl - ENSG00000136425 - - - Genatlas - CIB2 - - - HGNC - 24579 - - - OMIM - 605564 - - - SwissProt - O75838 - - - ClinVar - CIB2 - - - - - 15q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29572253[PMID] - - espin - ESPN - - - - gene with protein product - - - - Ensembl - ENSG00000187017 - - - Genatlas - ESPN - - - HGNC - 13281 - - - OMIM - 606351 - - - SwissProt - B1AK53 - - - ClinVar - ESPN - - - - - 1p36.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 231140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231140 - Silver-Russell syndrome due to an imprinting defect of 11p15 - - Etiological subtype - - - Subtype of disorder - - - - 33236057[PMID] - - insulin like growth factor 2 - IGF2 - - FLJ44734 - IGF-II - preptin - somatomedin A - - - gene with protein product - - - - Ensembl - ENSG00000167244 - - - Genatlas - IGF2 - - - HGNC - 5466 - - - OMIM - 147470 - - - Reactome - P01344 - - - SwissProt - P01344 - - - ClinVar - IGF2 - - - - - 11p15.5 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 19675668[PMID] - - H19 imprinted maternally expressed transcript - H19 - - GMRSP - ASM - ASM1 - D11S813E - LINC00008 - NCRNA00008 - long intergenic non-protein coding RNA 8 - non-protein coding RNA 8 - MIR675HG - MIR675 host gene - glucose metabolism regulatory protein - adult skeletal muscle - - - Non-coding RNA - - - - Ensembl - ENSG00000130600 - - - Genatlas - H19 - - - HGNC - 4713 - - - OMIM - 103280 - - - SwissProt - - - - ClinVar - H19 - - - - - 11p15.5 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 231144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231144 - Silver-Russell syndrome due to 11p15 microduplication - - Etiological subtype - - - Subtype of disorder - - - - 28592837[PMID] - - H19 imprinted maternally expressed transcript - H19 - - GMRSP - ASM - ASM1 - D11S813E - LINC00008 - NCRNA00008 - long intergenic non-protein coding RNA 8 - non-protein coding RNA 8 - MIR675HG - MIR675 host gene - glucose metabolism regulatory protein - adult skeletal muscle - - - Non-coding RNA - - - - Ensembl - ENSG00000130600 - - - Genatlas - H19 - - - HGNC - 4713 - - - OMIM - 103280 - - - SwissProt - - - - ClinVar - H19 - - - - - 11p15.5 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 20503324[PMID] - - insulin like growth factor 2 - IGF2 - - FLJ44734 - IGF-II - preptin - somatomedin A - - - gene with protein product - - - - Ensembl - ENSG00000167244 - - - Genatlas - IGF2 - - - HGNC - 5466 - - - OMIM - 147470 - - - Reactome - P01344 - - - SwissProt - P01344 - - - ClinVar - IGF2 - - - - - 11p15.5 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 231120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120 - Beckwith-Wiedemann syndrome due to CDKN1C mutation - - Etiological subtype - - - Subtype of disorder - - - - 26077438[PMID]_20803657[PMID]_20301568[PMID] - - cyclin dependent kinase inhibitor 1C - CDKN1C - - KIP2 - P57 - - - gene with protein product - - - - Ensembl - ENSG00000129757 - - - Genatlas - CDKN1C - - - HGNC - 1786 - - - OMIM - 600856 - - - SwissProt - P49918 - - - Reactome - P49918 - - - ClinVar - CDKN1C - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 231127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127 - Beckwith-Wiedemann syndrome due to 11p15 microdeletion - - Etiological subtype - - - Subtype of disorder - - - - 15314640[PMID] - - H19 imprinted maternally expressed transcript - H19 - - GMRSP - ASM - ASM1 - D11S813E - LINC00008 - NCRNA00008 - long intergenic non-protein coding RNA 8 - non-protein coding RNA 8 - MIR675HG - MIR675 host gene - glucose metabolism regulatory protein - adult skeletal muscle - - - Non-coding RNA - - - - Ensembl - ENSG00000130600 - - - Genatlas - H19 - - - HGNC - 4713 - - - OMIM - 103280 - - - SwissProt - - - - ClinVar - H19 - - - - - 11p15.5 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 231108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231108 - Rhabdoid tumor predisposition syndrome - - Disease - - - Disorder - - - - 10521299[PMID] - - SWI/SNF related BAF chromatin remodeling complex subunit B1 - SMARCB1 - - BAF47 - Ini1 - PPP1R144 - RDT - Sfh1p - Snr1 - hSNFS - integrase interactor 1 - malignant rhabdoid tumor suppressor - protein phosphatase 1, regulatory subunit 144 - sucrose nonfermenting, yeast, homolog-like 1 - INI-1 - SNF5 - - - gene with protein product - - - - ClinVar - SMARCB1 - - - Reactome - Q12824 - - - SwissProt - Q12824 - - - Ensembl - ENSG00000099956 - - - Genatlas - SMARCB1 - - - HGNC - 11103 - - - OMIM - 601607 - - - - - 22q11.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20137775[PMID]_21566516[PMID] - - SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 - SMARCA4 - - ATP-dependent helicase SMARCA4 - BAF190 - BRG1 - BRM/SWI2-related gene 1 - FLJ39786 - SNF2 - SNF2-BETA - SNF2-like 4 - SNF2LB - SWI2 - brahma protein-like 1 - global transcription activator homologous sequence - hSNF2b - homeotic gene regulator - mitotic growth and transcription activator - nuclear protein GRB1 - sucrose nonfermenting-like 4 - - - gene with protein product - - - - Ensembl - ENSG00000127616 - - - Genatlas - SMARCA4 - - - HGNC - 11100 - - - IUPHAR - 2740 - - - OMIM - 603254 - - - Reactome - P51532 - - - SwissProt - P51532 - - - ClinVar - SMARCA4 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 231117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117 - Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 - - Etiological subtype - - - Subtype of disorder - - - - 21863054[PMID]_20803657[PMID]_20301568[PMID] - - H19 imprinted maternally expressed transcript - H19 - - GMRSP - ASM - ASM1 - D11S813E - LINC00008 - NCRNA00008 - long intergenic non-protein coding RNA 8 - non-protein coding RNA 8 - MIR675HG - MIR675 host gene - glucose metabolism regulatory protein - adult skeletal muscle - - - Non-coding RNA - - - - Ensembl - ENSG00000130600 - - - Genatlas - H19 - - - HGNC - 4713 - - - OMIM - 103280 - - - SwissProt - - - - ClinVar - H19 - - - - - 11p15.5 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 12019213[PMID]_20803657[PMID]_20301568[PMID] - - KCNQ1 opposite strand/antisense transcript 1 - KCNQ1OT1 - - KCNQ1 antisense RNA 2 (non-protein coding) - KCNQ1 overlapping transcript 1 (non-protein coding) - KCNQ1-AS2 - KvDMR1 - KvLQT1-AS - LIT1 - NCRNA00012 - non-protein coding RNA 12 - - - Non-coding RNA - - - - ClinVar - KCNQ1OT1 - - - SwissProt - - - - Ensembl - ENSG00000269821 - - - Genatlas - KCNQ1OT1 - - - HGNC - 6295 - - - OMIM - 604115 - - - - - 11p15.5 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 21863054[PMID]_20803657[PMID]_20301568[PMID] - - insulin like growth factor 2 - IGF2 - - FLJ44734 - IGF-II - preptin - somatomedin A - - - gene with protein product - - - - Ensembl - ENSG00000167244 - - - Genatlas - IGF2 - - - HGNC - 5466 - - - OMIM - 147470 - - - Reactome - P01344 - - - SwissProt - P01344 - - - ClinVar - IGF2 - - - - - 11p15.5 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 231040 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231040 - Familial generalized lentiginosis - - Disease - - - Disorder - - - - 26203640[PMID] - - SAM and SH3 domain containing 1 - SASH1 - - KIAA0790 - SH3D6A - dJ323M4.1 - - - gene with protein product - - - - Ensembl - ENSG00000111961 - - - Genatlas - SASH1 - - - HGNC - 19182 - - - OMIM - 607955 - - - SwissProt - O94885 - - - ClinVar - SASH1 - - - - - 6q24.3-q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3318 - Essential thrombocythemia - - Disease - - - Disorder - - - - 19262601[PMID]_23781511[PMID] - - tet methylcytosine dioxygenase 2 - TET2 - - FLJ20032 - ten-eleven translocation 2 - - - gene with protein product - - - - ClinVar - TET2 - - - Ensembl - ENSG00000168769 - - - Genatlas - TET2 - - - HGNC - 25941 - - - OMIM - 612839 - - - Reactome - Q6N021 - - - SwissProt - Q6N021 - - - - - 4q24 - 1 - - - - - Biomarker tested in - - - Assessed - - - - 21653328[PMID]_21825979[PMID] - - Janus kinase 2 - JAK2 - - JTK10 - - - gene with protein product - - - - Ensembl - ENSG00000096968 - - - Genatlas - JAK2 - - - HGNC - 6192 - - - IUPHAR - 2048 - - - OMIM - 147796 - - - Reactome - O60674 - - - SwissProt - O60674 - - - ClinVar - JAK2 - - - - - 9p24.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - MPL proto-oncogene, thrombopoietin receptor - MPL - - CD110 - TPOR - THPOR - - - gene with protein product - - - - ClinVar - MPL - - - Ensembl - ENSG00000117400 - - - Genatlas - MPL - - - HGNC - 7217 - - - IUPHAR - 1722 - - - OMIM - 159530 - - - Reactome - P40238 - - - SwissProt - P40238 - - - - - 1p34.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 24325256[PMID]_24325359[PMID] - - calreticulin - CALR - - calregulin - CALR1 - CRT - FLJ26680 - RO - SSA - Sicca syndrome antigen A (autoantigen Ro; calreticulin) - autoantigen Ro - cC1qR - - - gene with protein product - - - - SwissProt - P27797 - - - Ensembl - ENSG00000179218 - - - Genatlas - CALR - - - HGNC - 1455 - - - OMIM - 109091 - - - Reactome - P27797 - - - ClinVar - CALR - - - - - 19p13.13 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 21653328[PMID]_21825979[PMID] - - SH2B adaptor protein 3 - SH2B3 - - IDDM20 - LNK - lymphocyte adaptor protein - - - gene with protein product - - - - ClinVar - SH2B3 - - - Ensembl - ENSG00000111252 - - - Genatlas - SH2B3 - - - HGNC - 29605 - - - OMIM - 605093 - - - Reactome - Q9UQQ2 - - - SwissProt - Q9UQQ2 - - - - - 12q24.12 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 9258660[PMID]_21653328[PMID]_20068225[PMID] - - tumor protein p53 - TP53 - - LFS1 - Li-Fraumeni syndrome - P53 - p53 - - - gene with protein product - - - - Ensembl - ENSG00000141510 - - - Genatlas - TP53 - - - HGNC - 11998 - - - OMIM - 191170 - - - Reactome - P04637 - - - SwissProt - P04637 - - - ClinVar - TP53 - - - - - 17p13.1 - 1 - - - - - Biomarker tested in - - - Assessed - - - - - - 230857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230857 - Ehlers-Danlos/osteogenesis imperfecta syndrome - - Disease - - - Disorder - - - - 15728585[PMID]_23692737[PMID]_25674388[PMID] - - collagen type I alpha 1 chain - COL1A1 - - OI4 - - - gene with protein product - - - - ClinVar - COL1A1 - - - Ensembl - ENSG00000108821 - - - Genatlas - COL1A1 - - - HGNC - 2197 - - - OMIM - 120150 - - - Reactome - P02452 - - - SwissProt - P02452 - - - - - 17q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23692737[PMID] - - collagen type I alpha 2 chain - COL1A2 - - alpha 2(I)-collagen - alpha-2 collagen type I - collagen I, alpha-2 polypeptide - collagen of skin, tendon and bone, alpha-2 chain - type I procollagen - - - gene with protein product - - - - ClinVar - COL1A2 - - - OMIM - 120160 - - - Reactome - P08123 - - - SwissProt - P08123 - - - Ensembl - ENSG00000164692 - - - Genatlas - COL1A2 - - - HGNC - 2198 - - - - - 7q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 230851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230851 - Cardiac-valvular Ehlers-Danlos syndrome - - Disease - - - Disorder - - - - 15077201[PMID]_16816023[PMID] - - collagen type I alpha 2 chain - COL1A2 - - alpha 2(I)-collagen - alpha-2 collagen type I - collagen I, alpha-2 polypeptide - collagen of skin, tendon and bone, alpha-2 chain - type I procollagen - - - gene with protein product - - - - ClinVar - COL1A2 - - - OMIM - 120160 - - - Reactome - P08123 - - - SwissProt - P08123 - - - Ensembl - ENSG00000164692 - - - Genatlas - COL1A2 - - - HGNC - 2198 - - - - - 7q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 82 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=82 - Hereditary thrombophilia due to congenital antithrombin deficiency - - Disease - - - Disorder - - - - 24684277[PMID] - - serpin family C member 1 - SERPINC1 - - ATIII - MGC22579 - antithrombin (aa 375-432) - antithrombin III - coding sequence signal peptide antithrombin part 1 - signal peptide antithrombin part 1 - - - gene with protein product - - - - ClinVar - SERPINC1 - - - Ensembl - ENSG00000117601 - - - Genatlas - SERPINC1 - - - HGNC - 775 - - - IUPHAR - 2632 - - - OMIM - 107300 - - - Reactome - P01008 - - - SwissProt - P01008 - - - - - 1q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 230839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230839 - Classical-like Ehlers-Danlos syndrome type 1 - - Disease - - - Disorder - - - - 11642233[PMID] - - tenascin XB - TNXB - - TNXBS - XB - XBS - TNX - HXBL - TN-X - Hexabrachion-like protein - tenascin-X - - - gene with protein product - - - - Ensembl - ENSG00000168477 - - - Genatlas - TNXB - - - HGNC - 11976 - - - OMIM - 600985 - - - Reactome - P22105 - - - SwissProt - P22105 - - - ClinVar - TNXB - - - - - 6p21.33-p21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 238269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238269 - AApoAII amyloidosis - - Clinical subtype - - - Subtype of disorder - - - - 11401442[PMID] - - apolipoprotein A2 - APOA2 - - - - gene with protein product - - - - Ensembl - ENSG00000158874 - - - Genatlas - APOA2 - - - HGNC - 601 - - - OMIM - 107670 - - - Reactome - P02652 - - - SwissProt - P02652 - - - ClinVar - APOA2 - - - - - 1q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 238446 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238446 - 15q11q13 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - 25884337[PMID] - - ubiquitin protein ligase E3A - UBE3A - - ANCR - AS - Angelman syndrome - E6-AP - FLJ26981 - - - gene with protein product - - - - ClinVar - UBE3A - - - Ensembl - ENSG00000114062 - - - Genatlas - UBE3A - - - HGNC - 12496 - - - OMIM - 601623 - - - Reactome - Q05086 - - - SwissProt - Q05086 - - - - - 15q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 238329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238329 - Severe X-linked mitochondrial encephalomyopathy - - Disease - - - Disorder - - - - 20362274[PMID] - - apoptosis inducing factor mitochondria associated 1 - AIFM1 - - AIF - CMTX4 - DFNX5 - - - gene with protein product - - - - OMIM - 300169 - - - SwissProt - O95831 - - - Ensembl - ENSG00000156709 - - - Genatlas - AIFM1 - - - HGNC - 8768 - - - Reactome - O95831 - - - ClinVar - AIFM1 - - - - - Xq26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 231568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231568 - Autosomal dominant generalized dystrophic epidermolysis bullosa - - Disease - - - Disorder - - - - - - collagen type VII alpha 1 chain - COL7A1 - - LC collagen - collagen VII, alpha-1 polypeptide - - - gene with protein product - - - - ClinVar - COL7A1 - - - Ensembl - ENSG00000114270 - - - Genatlas - COL7A1 - - - HGNC - 2214 - - - OMIM - 120120 - - - Reactome - Q02388 - - - SwissProt - Q02388 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 1900 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1900 - Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency - - Clinical subtype - - - Subtype of disorder - - - - 15979919[PMID]_20301635[PMID] - - procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 - PLOD1 - - LH1 - lysyl hydroxlase 1 - procollagen lysyl hydroxylase 1 - - - gene with protein product - - - - ClinVar - PLOD1 - - - Ensembl - ENSG00000083444 - - - Genatlas - PLOD1 - - - HGNC - 9081 - - - OMIM - 153454 - - - Reactome - Q02809 - - - SwissProt - Q02809 - - - - - 1p36.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 231671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231671 - Isolated growth hormone deficiency type IB - - Clinical subtype - - - Subtype of disorder - - - - 19762173[PMID]_22139958[PMID] - - growth hormone 1 - GH1 - - GH - GH-N - GHN - hGH-N - pituitary growth hormone - somatotropin - - - gene with protein product - - - - ClinVar - GH1 - - - Ensembl - ENSG00000259384 - - - Genatlas - GH1 - - - HGNC - 4261 - - - OMIM - 139250 - - - Reactome - P01241 - - - SwissProt - P01241 - - - - - 17q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=286 - Vascular Ehlers-Danlos syndrome - - Disease - - - Disorder - - - - 20301667[PMID] - - collagen type III alpha 1 chain - COL3A1 - - - - gene with protein product - - - - ClinVar - COL3A1 - - - Ensembl - ENSG00000168542 - - - Genatlas - COL3A1 - - - HGNC - 2201 - - - OMIM - 120180 - - - Reactome - P02461 - - - SwissProt - P02461 - - - - - 2q32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 231679 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231679 - Isolated growth hormone deficiency type II - - Clinical subtype - - - Subtype of disorder - - - - 19762173[PMID]_22139958[PMID] - - growth hormone 1 - GH1 - - GH - GH-N - GHN - hGH-N - pituitary growth hormone - somatotropin - - - gene with protein product - - - - ClinVar - GH1 - - - Ensembl - ENSG00000259384 - - - Genatlas - GH1 - - - HGNC - 4261 - - - OMIM - 139250 - - - Reactome - P01241 - - - SwissProt - P01241 - - - - - 17q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26612202[PMID] - - POU class 1 homeobox 1 - POU1F1 - - pituitary transcript factor 1 - GHF-1 - POU1F1a - growth hormone factor 1 - PIT-1 - - - gene with protein product - - - - ClinVar - POU1F1 - - - Ensembl - ENSG00000064835 - - - Genatlas - POU1F1 - - - HGNC - 9210 - - - OMIM - 173110 - - - SwissProt - P28069 - - - - - 3p11.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 231662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231662 - Isolated growth hormone deficiency type IA - - Clinical subtype - - - Subtype of disorder - - - - 19762173[PMID]_22139958[PMID] - - growth hormone 1 - GH1 - - GH - GH-N - GHN - hGH-N - pituitary growth hormone - somatotropin - - - gene with protein product - - - - ClinVar - GH1 - - - Ensembl - ENSG00000259384 - - - Genatlas - GH1 - - - HGNC - 4261 - - - OMIM - 139250 - - - Reactome - P01241 - - - SwissProt - P01241 - - - - - 17q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24480542[PMID] - - RNA binding region (RNP1, RRM) containing 3 - RNPC3 - - FLJ20008 - KIAA1839 - RBM40 - SNRNP65 - U11/U12 snRNP 65K - - - gene with protein product - - - - Ensembl - ENSG00000185946 - - - Genatlas - RNPC3 - - - HGNC - 18666 - - - Reactome - Q96LT9 - - - SwissProt - Q96LT9 - - - OMIM - 618016 - - - ClinVar - RNPC3 - - - - - 1p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 257 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=257 - Epidermolysis bullosa simplex with muscular dystrophy - - Disease - - - Disorder - - - - 20052759[PMID] - - plectin - PLEC - - PCN - PLTN - - - gene with protein product - - - - Ensembl - ENSG00000178209 - - - Genatlas - PLEC - - - HGNC - 9069 - - - OMIM - 601282 - - - Reactome - Q15149 - - - SwissProt - Q15149 - - - ClinVar - PLEC - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1901 - Dermatosparaxis Ehlers-Danlos syndrome - - Disease - - - Disorder - - - - 10417273[PMID] - - ADAM metallopeptidase with thrombospondin type 1 motif 2 - ADAMTS2 - - ADAM-TS2 - ADAMTS-3 - NPI - PCINP - hPCPNI - procollagen I N-proteinase - procollagen N-endopeptidase - - - gene with protein product - - - - Ensembl - ENSG00000087116 - - - Genatlas - ADAMTS2 - - - HGNC - 218 - - - OMIM - 604539 - - - Reactome - O95450 - - - SwissProt - O95450 - - - ClinVar - ADAMTS2 - - - IUPHAR - 1675 - - - - - 5q35.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33369194[PMID] - - ADAMTS like 2 - ADAMTSL2 - - KIAA0605 - - - gene with protein product - - - - ClinVar - ADAMTSL2 - - - Ensembl - ENSG00000197859 - - - Genatlas - ADAMTSL2 - - - HGNC - 14631 - - - OMIM - 612277 - - - Reactome - Q86TH1 - - - SwissProt - Q86TH1 - - - - - 9q34.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 231720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231720 - Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome - - Malformation syndrome - - - Disorder - - - - 10835633[PMID]_19762173[PMID] - - LIM homeobox 3 - LHX3 - - - - gene with protein product - - - - ClinVar - LHX3 - - - Genatlas - LHX3 - - - HGNC - 6595 - - - OMIM - 600577 - - - SwissProt - Q9UBR4 - - - Ensembl - ENSG00000107187 - - - - - 9q34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1899 - Arthrochalasia Ehlers-Danlos syndrome - - Disease - - - Disorder - - - - 9295084[PMID]_8071956[PMID] - - collagen type I alpha 2 chain - COL1A2 - - alpha 2(I)-collagen - alpha-2 collagen type I - collagen I, alpha-2 polypeptide - collagen of skin, tendon and bone, alpha-2 chain - type I procollagen - - - gene with protein product - - - - ClinVar - COL1A2 - - - OMIM - 120160 - - - Reactome - P08123 - - - SwissProt - P08123 - - - Ensembl - ENSG00000164692 - - - Genatlas - COL1A2 - - - HGNC - 2198 - - - - - 7q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 9295084[PMID]_1867198[PMID] - - collagen type I alpha 1 chain - COL1A1 - - OI4 - - - gene with protein product - - - - ClinVar - COL1A1 - - - Ensembl - ENSG00000108821 - - - Genatlas - COL1A1 - - - HGNC - 2197 - - - OMIM - 120150 - - - Reactome - P02452 - - - SwissProt - P02452 - - - - - 17q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=839 - Congenital nephrotic syndrome, Finnish type - - Disease - - - Disorder - - - - 9660941[PMID] - - NPHS1 adhesion molecule, nephrin - NPHS1 - - CNF - NPHN - - - gene with protein product - - - - ClinVar - NPHS1 - - - Ensembl - ENSG00000161270 - - - Genatlas - NPHS1 - - - HGNC - 7908 - - - OMIM - 602716 - - - Reactome - O60500 - - - SwissProt - O60500 - - - - - 19q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531 - Miller-Dieker syndrome - - Malformation syndrome - - - Disorder - - - - 10072440[PMID]_10655551[PMID] - - HIC ZBTB transcriptional repressor 1 - HIC1 - - ZBTB29 - ZNF901 - - - gene with protein product - - - - ClinVar - HIC1 - - - Ensembl - ENSG00000177374 - - - Genatlas - HIC1 - - - HGNC - 4909 - - - OMIM - 603825 - - - SwissProt - Q14526 - - - Reactome - Q14526 - - - - - 17p13.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 19584063[PMID] - - tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon - YWHAE - - 14-3-3 epsilon - FLJ45465 - - - gene with protein product - - - - ClinVar - YWHAE - - - Ensembl - ENSG00000108953 - - - Genatlas - YWHAE - - - HGNC - 12851 - - - OMIM - 605066 - - - Reactome - P62258 - - - SwissProt - P62258 - - - - - 17p13.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 12621583[PMID] - - platelet activating factor acetylhydrolase 1b regulatory subunit 1 - PAFAH1B1 - - LIS1 - PAFAH - lissencephaly-1 - NudF - - - gene with protein product - - - - Ensembl - ENSG00000007168 - - - Genatlas - PAFAH1B1 - - - HGNC - 8574 - - - OMIM - 601545 - - - Reactome - P43034 - - - SwissProt - P43034 - - - ClinVar - PAFAH1B1 - - - - - 17p13.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452 - X-linked lissencephaly with abnormal genitalia - - Malformation syndrome - - - Disorder - - - - 12379852[PMID]_12874405[PMID] - - aristaless related homeobox - ARX - - CT121 - EIEE1 - ISSX - cancer/testis antigen 121 - - - gene with protein product - - - - ClinVar - ARX - - - SwissProt - Q96QS3 - - - Ensembl - ENSG00000004848 - - - Genatlas - ARX - - - HGNC - 18060 - - - OMIM - 300382 - - - - - Xp21.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 238763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238763 - Glaucoma secondary to spherophakia/ectopia lentis and megalocornea - - Malformation syndrome - - - Disorder - - - - 20179738[PMID]_22025892[PMID] - - latent transforming growth factor beta binding protein 2 - LTBP2 - - - - gene with protein product - - - - ClinVar - LTBP2 - - - Ensembl - ENSG00000119681 - - - Genatlas - LTBP2 - - - HGNC - 6715 - - - OMIM - 602091 - - - Reactome - Q14767 - - - SwissProt - Q14767 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 238722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238722 - Familial congenital mirror movements - - Disease - - - Disorder - - - - 25098561[PMID] - - dynein axonemal light chain 4 - DNAL4 - - dJ327J16 - PIG27 - - - gene with protein product - - - - SwissProt - O96015 - - - OMIM - 610565 - - - HGNC - 2955 - - - Ensembl - ENSG00000100246 - - - Genatlas - DNAL4 - - - Reactome - O96015 - - - ClinVar - DNAL4 - - - - - 22q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22305526[PMID] - - RAD51 recombinase - RAD51 - - BRCA1/BRCA2-containing complex, subunit 5 - BRCC5 - FANCR - HsRad51 - HsT16930 - - - gene with protein product - - - - ClinVar - RAD51 - - - Ensembl - ENSG00000051180 - - - Genatlas - RAD51 - - - HGNC - 9817 - - - OMIM - 179617 - - - Reactome - Q06609 - - - SwissProt - Q06609 - - - - - 15q15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20431009[PMID] - - DCC netrin 1 receptor - DCC - - IGDCC1 - NTN1R1 - immunoglobulin superfamily, DCC subclass, member 1 - - - gene with protein product - - - - Ensembl - ENSG00000187323 - - - Genatlas - DCC - - - HGNC - 2701 - - - OMIM - 120470 - - - Reactome - P43146 - - - SwissProt - P43146 - - - ClinVar - DCC - - - - - 18q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28945198[PMID] - - netrin 1 - NTN1 - - Netrin-1 - NTN1L - NET1 - - - gene with protein product - - - - Genatlas - NTN1 - - - ClinVar - NTN1 - - - Reactome - O95631 - - - HGNC - 8029 - - - OMIM - 601614 - - - Ensembl - ENSG00000065320 - - - SwissProt - O95631 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 238769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238769 - 1q44 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - 28283832[PMID] - - heterogeneous nuclear ribonucleoprotein U - HNRNPU - - scaffold attachment factor A - FLJ37978 - FLJ30202 - SAF-A - - - gene with protein product - - - - HGNC - 5048 - - - Reactome - Q00839 - - - Genatlas - HNRNPU - - - ClinVar - HNRNPU - - - SwissProt - Q00839 - - - Ensembl - ENSG00000153187 - - - OMIM - 602869 - - - - - 1q44 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 238505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238505 - Combined immunodeficiency due to CD27 deficiency - - Disease - - - Disorder - - - - 22197273[PMID] - - CD27 molecule - CD27 - - S152 - Tp55 - T-cell activation antigen S152 - CD27 antigen - - - gene with protein product - - - - IUPHAR - 1876 - - - ClinVar - CD27 - - - Ensembl - ENSG00000139193 - - - Genatlas - CD27 - - - HGNC - 11922 - - - OMIM - 186711 - - - Reactome - P26842 - - - SwissProt - P26842 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 238475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238475 - Familial hypercholanemia - - Disease - - - Disorder - - - - 12878321[PMID]_25992604[PMID] - - epoxide hydrolase 1 - EPHX1 - - - - gene with protein product - - - - Ensembl - ENSG00000143819 - - - Genatlas - EPHX1 - - - HGNC - 3401 - - - OMIM - 132810 - - - Reactome - P07099 - - - SwissProt - P07099 - - - ClinVar - EPHX1 - - - - - 1q42.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12704386[PMID] - - tight junction protein 2 - TJP2 - - Friedreich ataxia region gene X104 (tight junction protein ZO-2) - X104 - ZO-2 - ZO2 - zona occludens 2 - - - gene with protein product - - - - Ensembl - ENSG00000119139 - - - Genatlas - TJP2 - - - HGNC - 11828 - - - OMIM - 607709 - - - Reactome - Q9UDY2 - - - SwissProt - Q9UDY2 - - - ClinVar - TJP2 - - - - - 9q21.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12704386[PMID] - - bile acid-CoA:amino acid N-acyltransferase - BAAT - - BAT - glycine N-choloyltransferase - BACAT - choloyl-CoA hydrolase - - - gene with protein product - - - - Ensembl - ENSG00000136881 - - - Genatlas - BAAT - - - HGNC - 932 - - - OMIM - 602938 - - - Reactome - Q14032 - - - SwissProt - Q14032 - - - ClinVar - BAAT - - - - - 9q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28835676[PMID] - - solute carrier family 10 member 1 - SLC10A1 - - Na+/taurocholate cotransporting polypeptide - NTCP - NTCP1 - - - gene with protein product - - - - IUPHAR - 959 - - - HGNC - 10905 - - - Ensembl - ENSG00000100652 - - - SwissProt - Q14973 - - - OMIM - 182396 - - - Genatlas - SLC10A1 - - - Reactome - Q14973 - - - ClinVar - SLC10A1 - - - - - 14q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 238455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238455 - Infantile dystonia-parkinsonism - - Disease - - - Disorder - - - - - - solute carrier family 6 member 3 - SLC6A3 - - Sodium-dependent dopamine transporter - DAT - dopamine transporter - - - gene with protein product - - - - Ensembl - ENSG00000142319 - - - Genatlas - SLC6A3 - - - HGNC - 11049 - - - IUPHAR - 927 - - - OMIM - 126455 - - - Reactome - Q01959 - - - SwissProt - Q01959 - - - ClinVar - SLC6A3 - - - - - 5p15.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 238459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238459 - SLC35A1-CDG - - Disease - - - Disorder - - - - 20301507[PMID] - - solute carrier family 35 member A1 - SLC35A1 - - CMPST - hCST - CMP-Sia-Tr - CMP-sialic acid transporter - - - gene with protein product - - - - IUPHAR - 1138 - - - ClinVar - SLC35A1 - - - Ensembl - ENSG00000164414 - - - Genatlas - SLC35A1 - - - HGNC - 11021 - - - OMIM - 605634 - - - Reactome - P78382 - - - SwissProt - P78382 - - - - - 6q15 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 238578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238578 - Familial clubfoot due to 17q23.1q23.2 microduplication - - Etiological subtype - - - Subtype of disorder - - - - 20598276[PMID] - - T-box transcription factor 4 - TBX4 - - - - gene with protein product - - - - Ensembl - ENSG00000121075 - - - Genatlas - TBX4 - - - HGNC - 11603 - - - OMIM - 601719 - - - SwissProt - P57082 - - - ClinVar - TBX4 - - - - - 17q23.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 238557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238557 - Chuvash erythrocytosis - - Disease - - - Disorder - - - - 11987242[PMID]_24115288[PMID] - - von Hippel-Lindau tumor suppressor - VHL - - VHL1 - - - gene with protein product - - - - ClinVar - VHL - - - IUPHAR - 3204 - - - Ensembl - ENSG00000134086 - - - Genatlas - VHL - - - HGNC - 12687 - - - OMIM - 608537 - - - Reactome - P40337 - - - SwissProt - P40337 - - - - - 3p25.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 238569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238569 - Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome - - Disease - - - Disorder - - - - 22549091[PMID] - - interleukin 10 - IL10 - - CSIF - IL-10 - IL10A - T-cell growth inhibitory factor - TGIF - cytokine synthesis inhibitory factor - - - gene with protein product - - - - ClinVar - IL10 - - - Reactome - P22301 - - - Ensembl - ENSG00000136634 - - - Genatlas - IL10 - - - HGNC - 5962 - - - OMIM - 124092 - - - SwissProt - P22301 - - - - - 1q32.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22549091[PMID] - - interleukin 10 receptor subunit alpha - IL10RA - - CD210 - CD210a - CDW210A - HIL-10R - - - gene with protein product - - - - Ensembl - ENSG00000110324 - - - Genatlas - IL10RA - - - HGNC - 5964 - - - OMIM - 146933 - - - SwissProt - Q13651 - - - IUPHAR - 1727 - - - Reactome - Q13651 - - - ClinVar - IL10RA - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22549091[PMID] - - interleukin 10 receptor subunit beta - IL10RB - - CDW210B - CRF2-4 - IL-10R2 - - - gene with protein product - - - - HGNC - 5965 - - - OMIM - 123889 - - - SwissProt - Q08334 - - - Ensembl - ENSG00000243646 - - - Genatlas - IL10RB - - - Reactome - Q08334 - - - IUPHAR - 1728 - - - ClinVar - IL10RB - - - - - 21q22.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 238523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238523 - Atypical hypotonia-cystinuria syndrome - - Disease - - - Disorder - - - - 18234729[PMID] - - solute carrier family 3 member 1 - SLC3A1 - - ATR1 - CSNU1 - D2H - NBAT - RBAT - neutral and basic amino acid transport protein rBAT - amino acid transporter 1 - - - gene with protein product - - - - Ensembl - ENSG00000138079 - - - Genatlas - SLC3A1 - - - HGNC - 11025 - - - OMIM - 104614 - - - Reactome - Q07837 - - - SwissProt - Q07837 - - - ClinVar - SLC3A1 - - - IUPHAR - 889 - - - - - 2p21 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 18234729[PMID] - - prolyl endopeptidase like - PREPL - - KIAA0436 - - - gene with protein product - - - - IUPHAR - 2870 - - - ClinVar - PREPL - - - Ensembl - ENSG00000138078 - - - Genatlas - PREPL - - - HGNC - 30228 - - - OMIM - 609557 - - - SwissProt - Q4J6C6 - - - - - 2p21 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 18234729[PMID] - - calmodulin-lysine N-methyltransferase - CAMKMT - - CLNMT - CaM KMT - - - gene with protein product - - - - Ensembl - ENSG00000143919 - - - Genatlas - C2orf34 - - - HGNC - 26276 - - - OMIM - 609559 - - - Reactome - Q7Z624 - - - SwissProt - Q7Z624 - - - ClinVar - C2orf34 - - - - - 2p21 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 238613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238613 - Beckwith-Wiedemann syndrome due to NSD1 mutation - - Etiological subtype - - - Subtype of disorder - - - - 14997421[PMID] - - nuclear receptor binding SET domain protein 1 - NSD1 - - ARA267 - FLJ22263 - KMT3B - histone-lysine N-methyltransferase, H3 lysine-36 specific - - - gene with protein product - - - - ClinVar - NSD1 - - - IUPHAR - 2696 - - - Ensembl - ENSG00000165671 - - - Genatlas - NSD1 - - - HGNC - 14234 - - - OMIM - 606681 - - - Reactome - Q96L73 - - - SwissProt - Q96L73 - - - - - 5q35.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 238670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238670 - Isolated thyrotropin-releasing hormone deficiency - - Disease - - - Disorder - - - - 20687402[PMID] - - thyrotropin releasing hormone - TRH - - prothyroliberin - - - gene with protein product - - - - Ensembl - ENSG00000170893 - - - Genatlas - TRH - - - HGNC - 12298 - - - OMIM - 613879 - - - Reactome - P20396 - - - SwissProt - P20396 - - - ClinVar - TRH - - - - - 3q22.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 240071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240071 - Classic progressive supranuclear palsy syndrome - - Clinical subtype - - - Subtype of disorder - - - - - - microtubule associated protein tau - MAPT - - FLJ31424 - FTDP-17 - G protein beta1/gamma2 subunit-interacting factor 1 - MGC138549 - MSTD - MTBT1 - MTBT2 - PPND - PPP1R103 - microtubule-associated protein tau, isoform 4 - protein phosphatase 1, regulatory subunit 103 - tau - tau-40 - TAU - Tau-PHF6 - Tau-derived paired helical filament hexapeptide - - - gene with protein product - - - - Ensembl - ENSG00000186868 - - - Genatlas - MAPT - - - HGNC - 6893 - - - OMIM - 157140 - - - Reactome - P10636 - - - SwissProt - P10636 - - - ClinVar - MAPT - - - - - 17q21.31 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 240112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240112 - Progressive supranuclear palsy-progressive non-fluent aphasia syndrome - - Clinical subtype - - - Subtype of disorder - - - - - - microtubule associated protein tau - MAPT - - FLJ31424 - FTDP-17 - G protein beta1/gamma2 subunit-interacting factor 1 - MGC138549 - MSTD - MTBT1 - MTBT2 - PPND - PPP1R103 - microtubule-associated protein tau, isoform 4 - protein phosphatase 1, regulatory subunit 103 - tau - tau-40 - TAU - Tau-PHF6 - Tau-derived paired helical filament hexapeptide - - - gene with protein product - - - - Ensembl - ENSG00000186868 - - - Genatlas - MAPT - - - HGNC - 6893 - - - OMIM - 157140 - - - Reactome - P10636 - - - SwissProt - P10636 - - - ClinVar - MAPT - - - - - 17q21.31 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 240103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240103 - Progressive supranuclear palsy-corticobasal syndrome - - Clinical subtype - - - Subtype of disorder - - - - - - microtubule associated protein tau - MAPT - - FLJ31424 - FTDP-17 - G protein beta1/gamma2 subunit-interacting factor 1 - MGC138549 - MSTD - MTBT1 - MTBT2 - PPND - PPP1R103 - microtubule-associated protein tau, isoform 4 - protein phosphatase 1, regulatory subunit 103 - tau - tau-40 - TAU - Tau-PHF6 - Tau-derived paired helical filament hexapeptide - - - gene with protein product - - - - Ensembl - ENSG00000186868 - - - Genatlas - MAPT - - - HGNC - 6893 - - - OMIM - 157140 - - - Reactome - P10636 - - - SwissProt - P10636 - - - ClinVar - MAPT - - - - - 17q21.31 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 240094 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240094 - Progressive supranuclear palsy-pure akinesia with gait freezing syndrome - - Clinical subtype - - - Subtype of disorder - - - - - - microtubule associated protein tau - MAPT - - FLJ31424 - FTDP-17 - G protein beta1/gamma2 subunit-interacting factor 1 - MGC138549 - MSTD - MTBT1 - MTBT2 - PPND - PPP1R103 - microtubule-associated protein tau, isoform 4 - protein phosphatase 1, regulatory subunit 103 - tau - tau-40 - TAU - Tau-PHF6 - Tau-derived paired helical filament hexapeptide - - - gene with protein product - - - - Ensembl - ENSG00000186868 - - - Genatlas - MAPT - - - HGNC - 6893 - - - OMIM - 157140 - - - Reactome - P10636 - - - SwissProt - P10636 - - - ClinVar - MAPT - - - - - 17q21.31 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 240085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240085 - Progressive supranuclear palsy-predominant parkinsonism syndrome - - Clinical subtype - - - Subtype of disorder - - - - - - microtubule associated protein tau - MAPT - - FLJ31424 - FTDP-17 - G protein beta1/gamma2 subunit-interacting factor 1 - MGC138549 - MSTD - MTBT1 - MTBT2 - PPND - PPP1R103 - microtubule-associated protein tau, isoform 4 - protein phosphatase 1, regulatory subunit 103 - tau - tau-40 - TAU - Tau-PHF6 - Tau-derived paired helical filament hexapeptide - - - gene with protein product - - - - Ensembl - ENSG00000186868 - - - Genatlas - MAPT - - - HGNC - 6893 - - - OMIM - 157140 - - - Reactome - P10636 - - - SwissProt - P10636 - - - ClinVar - MAPT - - - - - 17q21.31 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 240760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240760 - Nijmegen breakage syndrome-like disorder - - Malformation syndrome - - - Disorder - - - - 21227757[PMID] - - MRE11 homolog, double strand break repair nuclease - MRE11 - - AT-like disease - ATLD - - - gene with protein product - - - - ClinVar - MRE11A - - - Ensembl - ENSG00000020922 - - - Genatlas - MRE11A - - - HGNC - 7230 - - - OMIM - 600814 - - - Reactome - P49959 - - - SwissProt - P49959 - - - - - 11q21 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 19409520[PMID] - - RAD50 double strand break repair protein - RAD50 - - RAD50-2 - hRad50 - - - gene with protein product - - - - Reactome - Q92878 - - - SwissProt - Q92878 - - - Ensembl - ENSG00000113522 - - - Genatlas - RAD50 - - - HGNC - 9816 - - - OMIM - 604040 - - - ClinVar - RAD50 - - - - - 5q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 331226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331226 - Susceptibility to infection due to TYK2 deficiency - - Disease - - - Disorder - - - - 17088085[PMID]_17521577[PMID] - - tyrosine kinase 2 - TYK2 - - JTK1 - - - gene with protein product - - - - ClinVar - TYK2 - - - Ensembl - ENSG00000105397 - - - Genatlas - TYK2 - - - HGNC - 12440 - - - IUPHAR - 2269 - - - OMIM - 176941 - - - Reactome - P29597 - - - SwissProt - P29597 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 331176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331176 - Severe congenital neutropenia due to G6PC3 deficiency - - Disease - - - Disorder - - - - 23018568[PMID]_19118303[PMID]_20799326[PMID] - - glucose-6-phosphatase catalytic subunit 3 - G6PC3 - - UGRP - Ubiquitous glucose-6-phosphatase catalytic subunit-related protein - - - gene with protein product - - - - Ensembl - ENSG00000141349 - - - Genatlas - G6PC3 - - - HGNC - 24861 - - - OMIM - 611045 - - - Reactome - Q9BUM1 - - - SwissProt - Q9BUM1 - - - ClinVar - G6PC3 - - - - - 17q21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 331187 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331187 - Immunodeficiency due to MASP-2 deficiency - - Disease - - - Disorder - - - - 12904520[PMID] - - MBL associated serine protease 2 - MASP2 - - mannose-binding lectin associated protein 19 - mannose-binding lectin-associated serine protease 2 - sMAP - MAP-2 - Map19 - - - gene with protein product - - - - ClinVar - MASP2 - - - SwissProt - O00187 - - - Ensembl - ENSG00000009724 - - - Genatlas - MASP2 - - - HGNC - 6902 - - - OMIM - 605102 - - - Reactome - O00187 - - - - - 1p36.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 331190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331190 - Immunodeficiency due to ficolin3 deficiency - - Disease - - - Disorder - - - - 19535802[PMID] - - ficolin 3 - FCN3 - - FCNH - HAKA1 - Hakata antigen - - - gene with protein product - - - - ClinVar - FCN3 - - - Ensembl - ENSG00000142748 - - - Genatlas - FCN3 - - - HGNC - 3625 - - - OMIM - 604973 - - - Reactome - O75636 - - - SwissProt - O75636 - - - - - 1p36.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 331206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331206 - Severe combined immunodeficiency due to complete RAG1/2 deficiency - - Disease - - - Disorder - - - - 8810255[PMID] - - recombination activating 1 - RAG1 - - MGC43321 - RING finger protein 74 - RNF74 - V(D)J recombination-activating protein 1 - recombination activating protein 1 - - - gene with protein product - - - - ClinVar - RAG1 - - - Ensembl - ENSG00000166349 - - - Genatlas - RAG1 - - - HGNC - 9831 - - - OMIM - 179615 - - - Reactome - P15918 - - - SwissProt - P15918 - - - - - 11p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 8810255[PMID] - - recombination activating 2 - RAG2 - - - - gene with protein product - - - - ClinVar - RAG2 - - - Ensembl - ENSG00000175097 - - - Genatlas - RAG2 - - - HGNC - 9832 - - - OMIM - 179616 - - - Reactome - P55895 - - - SwissProt - P55895 - - - - - 11p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 330032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330032 - Hemoglobin Lepore-beta-thalassemia syndrome - - Disease - - - Disorder - - - - 18932069[PMID] - - hemoglobin subunit beta - HBB - - CD113t-C - beta-globin - - - gene with protein product - - - - ClinVar - HBB - - - HGNC - 4827 - - - OMIM - 141900 - - - Reactome - P68871 - - - SwissProt - P68871 - - - Ensembl - ENSG00000244734 - - - Genatlas - HBB - - - - - 11p15.4 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 18932069[PMID] - - hemoglobin subunit delta - HBD - - HBK - - - gene with protein product - - - - Ensembl - ENSG00000223609 - - - Genatlas - HBD - - - HGNC - 4829 - - - OMIM - 142000 - - - Reactome - P02042 - - - SwissProt - P02042 - - - ClinVar - HBD - - - - - 11p15.4 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 330041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330041 - Hemoglobin M disease - - Disease - - - Disorder - - - - 8416301[PMID]_25031065[PMID] - - hemoglobin subunit alpha 2 - HBA2 - - HBA-T2 - - - gene with protein product - - - - ClinVar - HBA2 - - - Ensembl - ENSG00000188536 - - - Genatlas - HBA2 - - - HGNC - 4824 - - - OMIM - 141850 - - - Reactome - P69905 - - - SwissProt - P69905 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 8416301[PMID] - - hemoglobin subunit beta - HBB - - CD113t-C - beta-globin - - - gene with protein product - - - - ClinVar - HBB - - - HGNC - 4827 - - - OMIM - 141900 - - - Reactome - P68871 - - - SwissProt - P68871 - - - Ensembl - ENSG00000244734 - - - Genatlas - HBB - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 8416301[PMID]_3026948[PMID] - - hemoglobin subunit alpha 1 - HBA1 - - HBA-T3 - - - gene with protein product - - - - ClinVar - HBA1 - - - Ensembl - ENSG00000206172 - - - Genatlas - HBA1 - - - HGNC - 4823 - - - OMIM - 141800 - - - Reactome - P69905 - - - SwissProt - P69905 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 330050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330050 - DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect - - Etiological subtype - - - Subtype of disorder - - - - 17460227[PMID] - - dynamin 1 like - DNM1L - - DRP1 - DVLP - DYMPLE - HDYNIV - VPS1 - - - gene with protein product - - - - ClinVar - DNM1L - - - Ensembl - ENSG00000087470 - - - Genatlas - DNM1L - - - HGNC - 2973 - - - OMIM - 603850 - - - Reactome - O00429 - - - SwissProt - O00429 - - - - - 12p11.21 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 330054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330054 - Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome - - Disease - - - Disorder - - - - 19409522[PMID] - - growth factor, augmenter of liver regeneration - GFER - - FAD-linked sulfhydryl oxidase ALR - ALR - ERV1 - ERV1 homolog (S. cerevisiae) - HERV1 - HPO1 - HPO2 - HSS - hepatic regenerative stimulation substance - - - gene with protein product - - - - ClinVar - GFER - - - Ensembl - ENSG00000127554 - - - Genatlas - GFER - - - HGNC - 4236 - - - OMIM - 600924 - - - Reactome - P55789 - - - SwissProt - P55789 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 329802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329802 - 5p13 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - 23085304[PMID] - - NIPBL cohesin loading factor - NIPBL - - DKFZp434L1319 - FLJ11203 - FLJ12597 - FLJ13354 - FLJ13648 - IDN3 - Scc2 - sister chromatid cohesion 2 homolog (yeast) - - - gene with protein product - - - - Ensembl - ENSG00000164190 - - - Genatlas - NIPBL - - - HGNC - 28862 - - - OMIM - 608667 - - - Reactome - Q6KC79 - - - SwissProt - Q6KC79 - - - ClinVar - NIPBL - - - - - 5p13.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 329475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329475 - Spastic paraplegia-Paget disease of bone syndrome - - Disease - - - Disorder - - - - 22991237[PMID] - - valosin containing protein - VCP - - CDC48 - p97 - IBMPFD - TERA - transitional endoplasmic reticulum ATPase - - - gene with protein product - - - - ClinVar - VCP - - - Ensembl - ENSG00000165280 - - - Genatlas - VCP - - - HGNC - 12666 - - - OMIM - 601023 - - - Reactome - P55072 - - - SwissProt - P55072 - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 329481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329481 - Lipoprotein glomerulopathy - - Disease - - - Disorder - - - - 21464714[PMID] - - apolipoprotein E - APOE - - - - gene with protein product - - - - Ensembl - ENSG00000130203 - - - Genatlas - APOE - - - HGNC - 613 - - - OMIM - 107741 - - - Reactome - P02649 - - - SwissProt - P02649 - - - ClinVar - APOE - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 329478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329478 - Adult-onset distal myopathy due to VCP mutation - - Disease - - - Disorder - - - - 21684747[PMID] - - valosin containing protein - VCP - - CDC48 - p97 - IBMPFD - TERA - transitional endoplasmic reticulum ATPase - - - gene with protein product - - - - ClinVar - VCP - - - Ensembl - ENSG00000165280 - - - Genatlas - VCP - - - HGNC - 12666 - - - OMIM - 601023 - - - Reactome - P55072 - - - SwissProt - P55072 - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 329931 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329931 - C3 glomerulonephritis - - Histopathological subtype - - - Subtype of disorder - - - - 23728178[PMID] - - complement factor H related 1 - CFHR1 - - CFHL - FHR1 - H36-1 - H36-2 - - - gene with protein product - - - - ClinVar - CFHR1 - - - Ensembl - ENSG00000244414 - - - Genatlas - CFHR1 - - - HGNC - 4888 - - - OMIM - 134371 - - - SwissProt - Q03591 - - - Reactome - Q03591 - - - - - 1q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20800271[PMID]_22503529[PMID]_23026947[PMID] - - complement factor H related 5 - CFHR5 - - FHR-5 - FHR5 - Factor H related protein 5 - factor H related protein 5 - - - gene with protein product - - - - ClinVar - CFHR5 - - - Ensembl - ENSG00000134389 - - - Genatlas - CFHR5 - - - HGNC - 24668 - - - OMIM - 608593 - - - SwissProt - Q9BXR6 - - - Reactome - Q9BXR6 - - - - - 1q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22626820[PMID] - - complement factor H related 3 - CFHR3 - - DOWN16 - FHR-3 - FHR3 - HLF4 - - - gene with protein product - - - - ClinVar - CFHR3 - - - Ensembl - ENSG00000116785 - - - Genatlas - CFHR3 - - - HGNC - 16980 - - - OMIM - 605336 - - - Reactome - Q02985 - - - SwissProt - Q02985 - - - - - 1q31.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 31980588[PMID] - - complement factor H related 2 - CFHR2 - - FHR2 - - - gene with protein product - - - - HGNC - 4890 - - - Ensembl - ENSG00000080910 - - - SwissProt - P36980 - - - OMIM - 600889 - - - Genatlas - CFHR2 - - - Reactome - P36980 - - - ClinVar - CFHR2 - - - - - 1q31.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 329971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329971 - Generalized juvenile polyposis/juvenile polyposis coli - - Clinical subtype - - - Subtype of disorder - - - - 18823382[PMID] - - bone morphogenetic protein receptor type 1A - BMPR1A - - ALK3 - CD292 - - - gene with protein product - - - - HGNC - 1076 - - - IUPHAR - 1786 - - - OMIM - 601299 - - - Reactome - P36894 - - - SwissProt - P36894 - - - ClinVar - BMPR1A - - - Ensembl - ENSG00000107779 - - - Genatlas - BMPR1A - - - - - 10q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17204053[PMID]_18178612[PMID] - - endoglin - ENG - - CD105 - END - HHT1 - - - gene with protein product - - - - Reactome - P17813 - - - IUPHAR - 2895 - - - ClinVar - ENG - - - Ensembl - ENSG00000106991 - - - Genatlas - ENG - - - HGNC - 3349 - - - OMIM - 131195 - - - SwissProt - P17813 - - - - - 9q34.11 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 18823382[PMID] - - SMAD family member 4 - SMAD4 - - DPC4 - - - gene with protein product - - - - ClinVar - SMAD4 - - - Ensembl - ENSG00000141646 - - - Genatlas - SMAD4 - - - HGNC - 6770 - - - OMIM - 600993 - - - Reactome - Q13485 - - - SwissProt - Q13485 - - - - - 18q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 329967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329967 - Intermittent hydrarthrosis - - Disease - - - Disorder - - - - 16802374[PMID] - - MEFV innate immunity regulator, pyrin - MEFV - - FMF - TRIM20 - marenostrin - - - gene with protein product - - - - Ensembl - ENSG00000103313 - - - Genatlas - MEFV - - - HGNC - 6998 - - - OMIM - 608107 - - - Reactome - O15553 - - - SwissProt - O15553 - - - ClinVar - MEFV - - - - - 16p13.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 22887853[PMID] - - TNF receptor superfamily member 1A - TNFRSF1A - - CD120a - TNF-R - TNF-R-I - TNF-R55 - TNFAR - TNFR60 - - - gene with protein product - - - - IUPHAR - 1870 - - - Ensembl - ENSG00000067182 - - - Genatlas - TNFRSF1A - - - HGNC - 11916 - - - OMIM - 191190 - - - Reactome - P19438 - - - SwissProt - P19438 - - - ClinVar - TNFRSF1A - - - - - 12p13.31 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 329903 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329903 - Immunoglobulin-mediated membranoproliferative glomerulonephritis - - Clinical subtype - - - Subtype of disorder - - - - 21396679[PMID] - - complement factor H - CFH - - ARMD4 - ARMS1 - FHL1 - H factor 2 (complement) - HUS - age-related maculopathy susceptibility 1 - beta-1H - - - gene with protein product - - - - Ensembl - ENSG00000000971 - - - Genatlas - CFH - - - HGNC - 4883 - - - OMIM - 134370 - - - Reactome - P08603 - - - SwissProt - P08603 - - - ClinVar - CFH - - - - - 1q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23274426[PMID] - - diacylglycerol kinase epsilon - DGKE - - DAGK6 - DGK - - - gene with protein product - - - - ClinVar - DGKE - - - Ensembl - ENSG00000153933 - - - Genatlas - DGKE - - - HGNC - 2852 - - - OMIM - 601440 - - - Reactome - P52429 - - - SwissProt - P52429 - - - - - 17q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 329308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329308 - Fatty acid hydroxylase-associated neurodegeneration - - Disease - - - Disorder - - - - 20853438[PMID] - - fatty acid 2-hydroxylase - FA2H - - FAAH - FLJ25287 - fatty acid hydroxylase - Fatty acid alpha-hydroxylase - - - gene with protein product - - - - Ensembl - ENSG00000103089 - - - Genatlas - FA2H - - - HGNC - 21197 - - - OMIM - 611026 - - - Reactome - Q7L5A8 - - - SwissProt - Q7L5A8 - - - ClinVar - FA2H - - - - - 16q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 329314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329314 - Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency - - Disease - - - Disorder - - - - 23043144[PMID] - - deoxyguanosine kinase - DGUOK - - dGK - - - gene with protein product - - - - ClinVar - DGUOK - - - Ensembl - ENSG00000114956 - - - Genatlas - DGUOK - - - HGNC - 2858 - - - OMIM - 601465 - - - Reactome - Q16854 - - - SwissProt - Q16854 - - - - - 2p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 329319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329319 - Thrombocythemia with distal limb defects - - Disease - - - Disorder - - - - 19553636[PMID] - - thrombopoietin - THPO - - MPL ligand - MPLLG - TPO - c-mpl ligand - megakaryocyte colony-stimulating factor - megakaryocyte growth and development factor - megakaryocyte stimulating factor - myeloproliferative leukemia virus oncogene ligand - prepro-thrombopoietin - thrombopoietin nirs - - - gene with protein product - - - - ClinVar - THPO - - - Ensembl - ENSG00000090534 - - - Genatlas - THPO - - - HGNC - 11795 - - - OMIM - 600044 - - - Reactome - P40225 - - - SwissProt - P40225 - - - - - 3q27.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 329284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329284 - Beta-propeller protein-associated neurodegeneration - - Disease - - - Disorder - - - - 23435086[PMID] - - WD repeat domain 45 - WDR45 - - JM5 - NBIA5 - WIPI4 - neurodegeneration with brain iron accumulation 5 - - - gene with protein product - - - - ClinVar - WDR45 - - - Genatlas - WDR45 - - - HGNC - 28912 - - - OMIM - 300526 - - - Reactome - Q9Y484 - - - SwissProt - Q9Y484 - - - Ensembl - ENSG00000196998 - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 329457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329457 - Distal arthrogryposis type 5D - - Disease - - - Disorder - - - - 23261301[PMID] - - endothelin converting enzyme like 1 - ECEL1 - - DINE - Damage induced neuronal endopeptidase - XCE - damage induced neuronal endopeptidase - - - gene with protein product - - - - Ensembl - ENSG00000171551 - - - Genatlas - ECEL1 - - - HGNC - 3147 - - - OMIM - 605896 - - - SwissProt - O95672 - - - ClinVar - ECEL1 - - - - - 2q37.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 329466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329466 - Autosomal dominant focal dystonia, DYT25 type - - Disease - - - Disorder - - - - 23222958[PMID] - - G protein subunit alpha L - GNAL - - - - gene with protein product - - - - Ensembl - ENSG00000141404 - - - Genatlas - GNAL - - - HGNC - 4388 - - - OMIM - 139312 - - - Reactome - P38405 - - - SwissProt - P38405 - - - ClinVar - GNAL - - - - - 18p11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 329469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329469 - Acute megakaryoblastic leukemia in children without Down syndrome - - Clinical subtype - - - Subtype of disorder - - - - 23153540[PMID] - - GLIS family zinc finger 2 - GLIS2 - - NPHP7 - nephrocystin-7 - Gli-similar 2 - - - gene with protein product - - - - Reactome - Q9BZE0 - - - ClinVar - GLIS2 - - - Ensembl - ENSG00000126603 - - - Genatlas - GLIS2 - - - HGNC - 29450 - - - OMIM - 608539 - - - SwissProt - Q9BZE0 - - - - - 16p13.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 23153540[PMID] - - CBFA2/RUNX1 partner transcriptional co-repressor 3 - CBFA2T3 - - ETO2 - MTG16 - MTGR2 - Myeloid translocation gene 8 and 16b - RUNX1T3 - ZMYND4 - myeloid translocation gene 8 and 16b - - - gene with protein product - - - - Ensembl - ENSG00000129993 - - - Genatlas - CBFA2T3 - - - HGNC - 1537 - - - OMIM - 603870 - - - SwissProt - O75081 - - - ClinVar - CBFA2T3 - - - - - 16q24.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 329336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329336 - Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy - - Disease - - - Disorder - - - - 23107649[PMID] - - ribonucleotide reductase regulatory TP53 inducible subunit M2B - RRM2B - - p53R2 - - - gene with protein product - - - - Ensembl - ENSG00000048392 - - - Genatlas - RRM2B - - - HGNC - 17296 - - - IUPHAR - 2754 - - - OMIM - 604712 - - - Reactome - Q7LG56 - - - SwissProt - Q7LG56 - - - ClinVar - RRM2B - - - - - 8q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26094573[PMID] - - ribonuclease H1 - RNASEH1 - - RNase H1 - - - gene with protein product - - - - Ensembl - ENSG00000171865 - - - Genatlas - RNASEH1 - - - HGNC - 18466 - - - OMIM - 604123 - - - SwissProt - O60930 - - - ClinVar - RNASEH1 - - - - - 2p25.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 329228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329228 - Microcephalic primordial dwarfism due to ZNF335 deficiency - - Malformation syndrome - - - Disorder - - - - 23178126[PMID] - - zinc finger protein 335 - ZNF335 - - NRC-interacting factor 1 - bA465L10.2 - NIF-1 - - - gene with protein product - - - - Ensembl - ENSG00000198026 - - - Genatlas - ZNF335 - - - HGNC - 15807 - - - OMIM - 610827 - - - Reactome - Q9H4Z2 - - - SwissProt - Q9H4Z2 - - - ClinVar - ZNF335 - - - - - 20q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 329224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329224 - Schuurs-Hoeijmakers syndrome - - Malformation syndrome - - - Disorder - - - - 23159249[PMID] - - phosphofurin acidic cluster sorting protein 1 - PACS1 - - FLJ10209 - KIAA1175 - - - gene with protein product - - - - SwissProt - Q6VY07 - - - Ensembl - ENSG00000175115 - - - Genatlas - PACS1 - - - HGNC - 30032 - - - OMIM - 607492 - - - Reactome - Q6VY07 - - - ClinVar - PACS1 - - - - - 11q13.1-q13.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 329217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329217 - Cerebral sinovenous thrombosis - - Disease - - - Disorder - - - - 23073861[PMID]_22645618[PMID]_21350198[PMID]_16175009[PMID]_23927452[PMID]_22716977[PMID] - - coagulation factor II, thrombin - F2 - - prepro-coagulation factor II - - - gene with protein product - - - - ClinVar - F2 - - - Ensembl - ENSG00000180210 - - - Genatlas - F2 - - - HGNC - 3535 - - - IUPHAR - 2362 - - - OMIM - 176930 - - - Reactome - P00734 - - - SwissProt - P00734 - - - - - 11p11.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23073861[PMID]_22721898[PMID]_21350198[PMID]_10519989[PMID] - - coagulation factor V - F5 - - - - gene with protein product - - - - ClinVar - F5 - - - Ensembl - ENSG00000198734 - - - Genatlas - F5 - - - HGNC - 3542 - - - IUPHAR - 2606 - - - OMIM - 612309 - - - Reactome - P12259 - - - SwissProt - P12259 - - - - - 1q24.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 21350198[PMID]_18677630[PMID]_20416992[PMID] - - protein Z, vitamin K dependent plasma glycoprotein - PROZ - - PZ - - - gene with protein product - - - - Ensembl - ENSG00000126231 - - - Genatlas - PROZ - - - HGNC - 9460 - - - OMIM - 176895 - - - Reactome - P22891 - - - SwissProt - P22891 - - - ClinVar - PROZ - - - - - 13q34 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 329211 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329211 - Autosomal dominant neovascular inflammatory vitreoretinopathy - - Disease - - - Disorder - - - - 23055945[PMID] - - calpain 5 - CAPN5 - - ADNIV - HTRA3 - nCL-3 - - - gene with protein product - - - - Reactome - O15484 - - - Ensembl - ENSG00000149260 - - - Genatlas - CAPN5 - - - HGNC - 1482 - - - OMIM - 602537 - - - SwissProt - O15484 - - - ClinVar - CAPN5 - - - - - 11q13.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 329195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329195 - Developmental delay with autism spectrum disorder and gait instability - - Disease - - - Disorder - - - - 23065719[PMID]_23243086[PMID] - - HECT and RLD domain containing E3 ubiquitin protein ligase 2 - HERC2 - - D15F37S1 - jdf2 - p528 - - - gene with protein product - - - - Ensembl - ENSG00000128731 - - - Genatlas - HERC2 - - - HGNC - 4868 - - - OMIM - 605837 - - - Reactome - O95714 - - - SwissProt - O95714 - - - ClinVar - HERC2 - - - - - 15q13.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 329191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329191 - Tall stature-long halluces-multiple extra-epiphyses syndrome - - Disease - - - Disorder - - - - 22870295[PMID] - - natriuretic peptide receptor 2 - NPR2 - - ANPb - GUCY2B - guanylate cyclase 2B - guanylyl cyclase B - GC-B - - - gene with protein product - - - - ClinVar - NPR2 - - - IUPHAR - 1748 - - - Ensembl - ENSG00000159899 - - - Genatlas - NPR2 - - - HGNC - 7944 - - - OMIM - 108961 - - - Reactome - P20594 - - - SwissProt - P20594 - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 329178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329178 - Congenital muscular dystrophy with intellectual disability and severe epilepsy - - Disease - - - Disorder - - - - 23109149[PMID] - - dolichyl-phosphate mannosyltransferase subunit 2, regulatory - DPM2 - - DPM synthase complex subunit - MGC111193 - MGC21559 - - - gene with protein product - - - - Genatlas - DPM2 - - - HGNC - 3006 - - - OMIM - 603564 - - - Reactome - O94777 - - - SwissProt - O94777 - - - ClinVar - DPM2 - - - Ensembl - ENSG00000136908 - - - - - 9q34.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 329258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329258 - Autosomal dominant Charcot-Marie-Tooth disease type 2Q - - Disease - - - Disorder - - - - 23141294[PMID] - - dehydrogenase E1 and transketolase domain containing 1 - DHTKD1 - - OADH-E1 - 2-oxoadipate dehydrogenase complex component E1 - E1a - CMT2Q - DKFZP762M115 - KIAA1630 - MGC3090 - OADC-E1 - - - gene with protein product - - - - Ensembl - ENSG00000181192 - - - Genatlas - DHTKD1 - - - HGNC - 23537 - - - OMIM - 614984 - - - Reactome - Q96HY7 - - - SwissProt - Q96HY7 - - - ClinVar - DHTKD1 - - - - - 10p14 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 329249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329249 - Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency - - Etiological subtype - - - Subtype of disorder - - - - 23160192[PMID] - - SH2B adaptor protein 1 - SH2B1 - - FLJ30542 - SH2-B homolog - SH2B - - - gene with protein product - - - - HGNC - 30417 - - - OMIM - 608937 - - - Reactome - Q9NRF2 - - - SwissProt - Q9NRF2 - - - ClinVar - SH2B1 - - - Ensembl - ENSG00000178188 - - - Genatlas - SH2B1 - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 329242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329242 - Congenital chronic diarrhea with protein-losing enteropathy - - Disease - - - Disorder - - - - 29661969[PMID] - - plasmalemma vesicle associated protein - PLVAP - - FELS - fenestrated-endothelial linked structure protein; PV-1 protein - gp68 - PV-1 - PV1 - - - gene with protein product - - - - HGNC - 13635 - - - Ensembl - ENSG00000130300 - - - SwissProt - Q9BX97 - - - OMIM - 607647 - - - Genatlas - PLVAP - - - ClinVar - PLVAP - - - - - 19p13.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23114594[PMID] - - diacylglycerol O-acyltransferase 1 - DGAT1 - - ARGP1 - DGAT - - - gene with protein product - - - - Ensembl - ENSG00000185000 - - - Genatlas - DGAT1 - - - HGNC - 2843 - - - OMIM - 604900 - - - Reactome - O75907 - - - SwissProt - O75907 - - - IUPHAR - 2821 - - - ClinVar - DGAT1 - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 329235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329235 - X-linked central congenital hypothyroidism with late-onset testicular enlargement - - Disease - - - Disorder - - - - 23143598[PMID] - - immunoglobulin superfamily member 1 - IGSF1 - - IGCD1 - IGDC1 - INHBP - KIAA0364 - MGC75490 - PGSF2 - - - gene with protein product - - - - Ensembl - ENSG00000147255 - - - Genatlas - IGSF1 - - - ClinVar - IGSF1 - - - HGNC - 5948 - - - OMIM - 300137 - - - SwissProt - Q8N6C5 - - - - - Xq26.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 329173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329173 - Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis - - Disease - - - Disorder - - - - 23104095[PMID] - - RANBP2-type and C3HC4-type zinc finger containing 1 - RBCK1 - - HOIL1 - RBCK2 - RNF54 - UBCE7IP3 - XAP4 - ZRANB4 - heme-oxidized IRP2 ubiquitin ligase 1 - - - gene with protein product - - - - ClinVar - RBCK1 - - - Ensembl - ENSG00000125826 - - - Genatlas - RBCK1 - - - HGNC - 15864 - - - OMIM - 610924 - - - Reactome - Q9BYM8 - - - SwissProt - Q9BYM8 - - - - - 20p13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 26008899[PMID] - - ring finger protein 31 - RNF31 - - FLJ10111 - FLJ23501 - HOIL-1-interacting protein - HOIP - ZIBRA - Paul - - - gene with protein product - - - - Ensembl - ENSG00000092098 - - - Genatlas - RNF31 - - - HGNC - 16031 - - - OMIM - 612487 - - - Reactome - Q96EP0 - - - SwissProt - Q96EP0 - - - ClinVar - RNF31 - - - - - 14q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329 - Congenital factor XI deficiency - - Disease - - - Disorder - - - - 18312365[PMID]_22159456[PMID] - - coagulation factor XI - F11 - - FXI - plasma thromboplastin antecedent - - - gene with protein product - - - - Ensembl - ENSG00000088926 - - - Genatlas - F11 - - - HGNC - 3529 - - - IUPHAR - 2360 - - - OMIM - 264900 - - - Reactome - P03951 - - - SwissProt - P03951 - - - ClinVar - F11 - - - - - 4q35.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1243 - Best vitelliform macular dystrophy - - Disease - - - Disorder - - - - 20301346[PMID]_16754206[PMID] - - bestrophin 1 - BEST1 - - BEST - BMD - Best disease - RP50 - - - gene with protein product - - - - ClinVar - BEST1 - - - Ensembl - ENSG00000167995 - - - Genatlas - BEST1 - - - HGNC - 12703 - - - OMIM - 607854 - - - Reactome - O76090 - - - SwissProt - O76090 - - - - - 11q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 325524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325524 - Classic congenital lipoid adrenal hyperplasia due to STAR deficency - - Clinical subtype - - - Subtype of disorder - - - - 20444910[PMID] - - steroidogenic acute regulatory protein - STAR - - STARD1 - StAR - StAR related lipid transfer (START) domain containing 1 - - - gene with protein product - - - - SwissProt - P49675 - - - Ensembl - ENSG00000147465 - - - Genatlas - STAR - - - HGNC - 11359 - - - OMIM - 600617 - - - Reactome - P49675 - - - ClinVar - STAR - - - - - 8p11.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 325448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325448 - Leydig cell hypoplasia due to LHB deficiency - - Clinical subtype - - - Subtype of disorder - - - - - - luteinizing hormone subunit beta - LHB - - CGB4 - LSH-B - hLHB - interstitial cell stimulating hormone, beta chain - luteinizing hormone beta subunit - lutropin, beta chain - - - gene with protein product - - - - ClinVar - LHB - - - Ensembl - ENSG00000104826 - - - Genatlas - LHB - - - HGNC - 6584 - - - OMIM - 152780 - - - Reactome - P01229 - - - SwissProt - P01229 - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 325529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325529 - Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency - - Clinical subtype - - - Subtype of disorder - - - - 20444910[PMID] - - steroidogenic acute regulatory protein - STAR - - STARD1 - StAR - StAR related lipid transfer (START) domain containing 1 - - - gene with protein product - - - - SwissProt - P49675 - - - Ensembl - ENSG00000147465 - - - Genatlas - STAR - - - HGNC - 11359 - - - OMIM - 600617 - - - Reactome - P49675 - - - ClinVar - STAR - - - - - 8p11.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 324977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324977 - Proteasome-associated autoinflammatory syndrome - - Disease - - - Disorder - - - - 21852578[PMID]_21129723[PMID]_21953331[PMID] - - proteasome 20S subunit beta 8 - PSMB8 - - D6S216E - PSMB5i - RING10 - beta5i - - - gene with protein product - - - - ClinVar - PSMB8 - - - Ensembl - ENSG00000204264 - - - Genatlas - PSMB8 - - - HGNC - 9545 - - - IUPHAR - 2408 - - - OMIM - 177046 - - - Reactome - P28062 - - - SwissProt - P28062 - - - - - 6p21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 324718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324718 - ABetaA21G amyloidosis - - Clinical subtype - - - Subtype of disorder - - - - 1303239[PMID] - - amyloid beta precursor protein - APP - - peptidase nexin-II - alpha-sAPP - - - gene with protein product - - - - Ensembl - ENSG00000142192 - - - Genatlas - APP - - - HGNC - 620 - - - OMIM - 104760 - - - Reactome - P05067 - - - SwissProt - P05067 - - - ClinVar - APP - - - - - 21q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 324713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324713 - ABeta amyloidosis, Italian type - - Clinical subtype - - - Subtype of disorder - - - - 20697050[PMID] - - amyloid beta precursor protein - APP - - peptidase nexin-II - alpha-sAPP - - - gene with protein product - - - - Ensembl - ENSG00000142192 - - - Genatlas - APP - - - HGNC - 620 - - - OMIM - 104760 - - - Reactome - P05067 - - - SwissProt - P05067 - - - ClinVar - APP - - - - - 21q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 324737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324737 - SRD5A3-CDG - - Disease - - - Disorder - - - - 20637498[PMID] - - steroid 5 alpha-reductase 3 - SRD5A3 - - FLJ13352 - SRD5A2L - SRD5A2L1 - polyprenol reductase - 3-oxo-5-alpha-steroid 4-dehydrogenase (NADP(+)) - - - gene with protein product - - - - HGNC - 25812 - - - OMIM - 611715 - - - Reactome - Q9H8P0 - - - SwissProt - Q9H8P0 - - - Ensembl - ENSG00000128039 - - - Genatlas - SRD5A3 - - - ClinVar - SRD5A3 - - - - - 4q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 324723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324723 - ABeta amyloidosis, Arctic type - - Clinical subtype - - - Subtype of disorder - - - - 18413473[PMID] - - amyloid beta precursor protein - APP - - peptidase nexin-II - alpha-sAPP - - - gene with protein product - - - - Ensembl - ENSG00000142192 - - - Genatlas - APP - - - HGNC - 620 - - - OMIM - 104760 - - - Reactome - P05067 - - - SwissProt - P05067 - - - ClinVar - APP - - - - - 21q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 324708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324708 - ABeta amyloidosis, Iowa type - - Clinical subtype - - - Subtype of disorder - - - - 12557012[PMID] - - amyloid beta precursor protein - APP - - peptidase nexin-II - alpha-sAPP - - - gene with protein product - - - - Ensembl - ENSG00000142192 - - - Genatlas - APP - - - HGNC - 620 - - - OMIM - 104760 - - - Reactome - P05067 - - - SwissProt - P05067 - - - ClinVar - APP - - - - - 21q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 324703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324703 - ABetaL34V amyloidosis - - Clinical subtype - - - Subtype of disorder - - - - 16178030[PMID] - - amyloid beta precursor protein - APP - - peptidase nexin-II - alpha-sAPP - - - gene with protein product - - - - Ensembl - ENSG00000142192 - - - Genatlas - APP - - - HGNC - 620 - - - OMIM - 104760 - - - Reactome - P05067 - - - SwissProt - P05067 - - - ClinVar - APP - - - - - 21q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 324611 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324611 - Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation - - Disease - - - Disorder - - - - 21623771[PMID] - - kinesin family member 5A - KIF5A - - D12S1889 - MY050 - NKHC - neuron-specific kinesin heavy chain - - - gene with protein product - - - - ClinVar - KIF5A - - - Reactome - Q12840 - - - SwissProt - Q12840 - - - Ensembl - ENSG00000155980 - - - Genatlas - KIF5A - - - HGNC - 6323 - - - OMIM - 602821 - - - - - 12q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 324604 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324604 - Classic multiminicore myopathy - - Clinical subtype - - - Subtype of disorder - - - - 12192640[PMID] - - selenoprotein N - SELENON - - RSS - SELN - - - gene with protein product - - - - ClinVar - SEPN1 - - - Ensembl - ENSG00000162430 - - - Genatlas - SEPN1 - - - HGNC - 15999 - - - OMIM - 606210 - - - SwissProt - Q9NZV5 - - - - - 1p36.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24105469[PMID] - - titin - TTN - - CMH9 - CMPD4 - FLJ32040 - LGMD2J - MYLK5 - TMD - - - gene with protein product - - - - Reactome - Q8WZ42 - - - SwissProt - Q8WZ42 - - - ClinVar - TTN - - - Ensembl - ENSG00000155657 - - - Genatlas - TTN - - - HGNC - 12403 - - - IUPHAR - 2265 - - - OMIM - 188840 - - - - - 2q31.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22784669[PMID] - - myosin heavy chain 7 - MYH7 - - CMD1S - - - gene with protein product - - - - ClinVar - MYH7 - - - OMIM - 160760 - - - Reactome - P12883 - - - SwissProt - P12883 - - - Ensembl - ENSG00000092054 - - - Genatlas - MYH7 - - - HGNC - 7577 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 324588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324588 - Familial dyskinesia and facial myokymia - - Disease - - - Disorder - - - - 22782511[PMID] - - adenylate cyclase 5 - ADCY5 - - AC5 - - - gene with protein product - - - - IUPHAR - 1282 - - - Ensembl - ENSG00000173175 - - - Genatlas - ADCY5 - - - HGNC - 236 - - - OMIM - 600293 - - - Reactome - O95622 - - - SwissProt - O95622 - - - ClinVar - ADCY5 - - - - - 3q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 324601 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324601 - X-linked cleft palate and ankyloglossia - - Malformation syndrome - - - Disorder - - - - 11559848[PMID]_12374769[PMID]_14729838[PMID] - - T-box transcription factor 22 - TBX22 - - - - gene with protein product - - - - Ensembl - ENSG00000122145 - - - Genatlas - TBX22 - - - HGNC - 11600 - - - OMIM - 300307 - - - SwissProt - Q9Y458 - - - ClinVar - TBX22 - - - - - Xq21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 324581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324581 - Benign Samaritan congenital myopathy - - Disease - - - Disorder - - - - 22752422[PMID] - - ryanodine receptor 1 - RYR1 - - PPP1R137 - RYR - protein phosphatase 1, regulatory subunit 137 - - - gene with protein product - - - - ClinVar - RYR1 - - - Ensembl - ENSG00000196218 - - - Genatlas - RYR1 - - - HGNC - 10483 - - - IUPHAR - 747 - - - OMIM - 180901 - - - Reactome - P21817 - - - SwissProt - P21817 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 324585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324585 - Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain - - Disease - - - Disorder - - - - 22704856[PMID] - - myelin protein zero - MPZ - - CMT2I - CMT2J - HMSNIB - P0 - - - gene with protein product - - - - ClinVar - MPZ - - - Ensembl - ENSG00000158887 - - - Genatlas - MPZ - - - HGNC - 7225 - - - OMIM - 159440 - - - SwissProt - P25189 - - - - - 1q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 324569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324569 - Pontocerebellar hypoplasia type 8 - - Malformation syndrome - - - Disorder - - - - 23023333[PMID] - - charged multivesicular body protein 1A - CHMP1A - - VPS46 homolog A (S. cerevisiae) - CHMP1 - KIAA0047 - Vps46A - - - gene with protein product - - - - Ensembl - ENSG00000131165 - - - Genatlas - CHMP1A - - - HGNC - 8740 - - - OMIM - 164010 - - - SwissProt - Q9HD42 - - - Reactome - Q9HD42 - - - ClinVar - CHMP1A - - - - - 16q24.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 324575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324575 - Hyperinsulinism due to HNF1A deficiency - - Disease - - - Disorder - - - - 22802087[PMID]_25733449[PMID] - - HNF1 homeobox A - HNF1A - - HNF1 - LFB1 - HNF1a - HNF1α - - - gene with protein product - - - - ClinVar - HNF1A - - - Genatlas - HNF1A - - - HGNC - 11621 - - - OMIM - 142410 - - - Reactome - P20823 - - - SwissProt - P20823 - - - Ensembl - ENSG00000135100 - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 324561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324561 - Hypopigmentation-punctate palmoplantar keratoderma syndrome - - Disease - - - Disorder - - - - 24075184[PMID] - - ectonucleotide pyrophosphatase/phosphodiesterase 1 - ENPP1 - - PC-1 - PCA1 - - - gene with protein product - - - - Ensembl - ENSG00000197594 - - - Genatlas - ENPP1 - - - HGNC - 3356 - - - OMIM - 173335 - - - Reactome - P22413 - - - SwissProt - P22413 - - - ClinVar - ENPP1 - - - - - 6q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 324530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324530 - Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation - - Disease - - - Disorder - - - - 23000145[PMID] - - phospholipase C gamma 2 - PLCG2 - - - - gene with protein product - - - - IUPHAR - 1408 - - - Ensembl - ENSG00000197943 - - - Genatlas - PLCG2 - - - HGNC - 9066 - - - OMIM - 600220 - - - Reactome - P16885 - - - SwissProt - P16885 - - - ClinVar - PLCG2 - - - - - 16q24.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 324535 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324535 - Combined oxidative phosphorylation defect type 11 - - Disease - - - Disorder - - - - 23022098[PMID]_23022099[PMID] - - required for meiotic nuclear division 1 homolog - RMND1 - - FLJ20627 - RMD1 - bA351K16.3 - - - gene with protein product - - - - OMIM - 614917 - - - SwissProt - Q9NWS8 - - - Ensembl - ENSG00000155906 - - - Genatlas - RMND1 - - - HGNC - 21176 - - - ClinVar - RMND1 - - - - - 6q25.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 324525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324525 - Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation - - Disease - - - Disorder - - - - 22781753[PMID] - - mitochondrially encoded tRNA-Leu (UUA/G) 1 - MT-TL1 - - TRNL1 - - - Non-coding RNA - - - - SwissProt - - - - Ensembl - ENSG00000209082 - - - Genatlas - MT-TL1 - - - HGNC - 7490 - - - OMIM - 590050 - - - ClinVar - MT-TL1 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 324442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324442 - Autosomal recessive axonal neuropathy with neuromyotonia - - Disease - - - Disorder - - - - 22961002[PMID] - - histidine triad nucleotide binding protein 1 - HINT1 - - PKCI-1 - - - gene with protein product - - - - Ensembl - ENSG00000169567 - - - Genatlas - HINT1 - - - HGNC - 4912 - - - OMIM - 601314 - - - SwissProt - P49773 - - - ClinVar - HINT1 - - - - - 5q23.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 324422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324422 - ALG13-CDG - - Disease - - - Disorder - - - - 22492991[PMID] - - ALG13 UDP-N-acetylglucosaminyltransferase subunit - ALG13 - - FLJ23018 - MDS031 - N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase - TDRD13 - YGL047W - tudor domain containing 13 - CDG1S - - - gene with protein product - - - - Ensembl - ENSG00000101901 - - - Genatlas - ALG13 - - - HGNC - 30881 - - - OMIM - 300776 - - - Reactome - Q9NP73 - - - SwissProt - Q9NP73 - - - ClinVar - ALG13 - - - - - Xq23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 324410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324410 - X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome - - Disease - - - Disorder - - - - 22814392[PMID] - - chloride intracellular channel 2 - CLIC2 - - XAP121 - CLCNL2 - - - gene with protein product - - - - Ensembl - ENSG00000155962 - - - Genatlas - CLIC2 - - - HGNC - 2063 - - - OMIM - 300138 - - - Reactome - O15247 - - - SwissProt - O15247 - - - ClinVar - CLIC2 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 324321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324321 - Sinoatrial node dysfunction and deafness - - Disease - - - Disorder - - - - 21131953[PMID] - - calcium voltage-gated channel subunit alpha1 D - CACNA1D - - CACH3 - CACN4 - Cav1.3 - - - gene with protein product - - - - Ensembl - ENSG00000157388 - - - Genatlas - CACNA1D - - - HGNC - 1391 - - - IUPHAR - 530 - - - OMIM - 114206 - - - Reactome - Q01668 - - - SwissProt - Q01668 - - - ClinVar - CACNA1D - - - - - 3p21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 324299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324299 - Multiple paragangliomas associated with polycythemia - - Disease - - - Disorder - - - - 22931260[PMID] - - endothelial PAS domain protein 1 - EPAS1 - - HIF-1 alpha-like factor - HIF2A - HLF - MOP2 - PASD2 - bHLHe73 - - - gene with protein product - - - - IUPHAR - 3148 - - - ClinVar - EPAS1 - - - OMIM - 603349 - - - Reactome - Q99814 - - - SwissProt - Q99814 - - - Ensembl - ENSG00000116016 - - - Genatlas - EPAS1 - - - HGNC - 3374 - - - - - 2p21 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 324294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324294 - T-cell immunodeficiency with epidermodysplasia verruciformis - - Disease - - - Disorder - - - - 22850876[PMID] - - ras homolog family member H - RHOH - - RhoH - TTF - - - gene with protein product - - - - Ensembl - ENSG00000168421 - - - Genatlas - RHOH - - - HGNC - 686 - - - OMIM - 602037 - - - Reactome - Q15669 - - - SwissProt - Q15669 - - - ClinVar - RHOH - - - - - 4p14 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 324290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324290 - PRDM8-related progressive myoclonus epilepsy - - Disease - - - Disorder - - - - 22961547[PMID] - - PR/SET domain 8 - PRDM8 - - KMT8D - - - gene with protein product - - - - Ensembl - ENSG00000152784 - - - Genatlas - PRDM8 - - - HGNC - 13993 - - - OMIM - 616639 - - - SwissProt - Q9NQV8 - - - ClinVar - PRDM8 - - - - - 4q21.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 324262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324262 - Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency - - Clinical subtype - - - Subtype of disorder - - - - 22901947[PMID] - - glutamate metabotropic receptor 1 - GRM1 - - GPRC1A - MGLUR1 - PPP1R85 - mGlu1 - protein phosphatase 1, regulatory subunit 85 - - - gene with protein product - - - - Ensembl - ENSG00000152822 - - - Genatlas - GRM1 - - - HGNC - 4593 - - - IUPHAR - 289 - - - OMIM - 604473 - - - Reactome - Q13255 - - - SwissProt - Q13255 - - - ClinVar - GRM1 - - - - - 6q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 320360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320360 - MT-ATP6-related mitochondrial spastic paraplegia - - Disease - - - Disorder - - - - 20656066[PMID] - - mitochondrially encoded ATP synthase membrane subunit 6 - MT-ATP6 - - ATP6 - ATPase-6 - Su6m - mitochondrially encoded ATP synthase membrane subunit a - - - gene with protein product - - - - ClinVar - MT-ATP6 - - - Ensembl - ENSG00000198899 - - - Genatlas - MT-ATP6 - - - HGNC - 7414 - - - OMIM - 516060 - - - Reactome - P00846 - - - SwissProt - P00846 - - - IUPHAR - 801 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 320355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320355 - Autosomal dominant spastic paraplegia type 41 - - Disease - - - Disorder - - - - 18364116[PMID] - - spastic paraplegia 41 (autosomal dominant) - SPG41 - - - - Disorder-associated locus - - - - SwissProt - - - - Ensembl - - - - HGNC - 34382 - - - OMIM - 613364 - - - - - 11p14.1-p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 320370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320370 - Autosomal recessive spastic paraplegia type 43 - - Disease - - - Disorder - - - - 23857908[PMID] - - chromosome 19 open reading frame 12 - C19ORF12 - - membrane protein-associated neurodegeneration - DKFZP762D096 - MGC10922 - NBIA4 - neurodegeneration with brain iron accumulation 4 - MPAN - - - gene with protein product - - - - Ensembl - ENSG00000131943 - - - Genatlas - C19orf12 - - - HGNC - 25443 - - - OMIM - 614297 - - - SwissProt - Q9NSK7 - - - ClinVar - C19orf12 - - - - - 19q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 320365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320365 - Autosomal dominant spastic paraplegia type 36 - - Disease - - - Disorder - - - - 19357379[PMID] - - spastic paraplegia 36 (autosomal dominant) - SPG36 - - - - Disorder-associated locus - - - - OMIM - - - - SwissProt - - - - Ensembl - - - - HGNC - 33240 - - - - - 12q23-q24 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 320380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320380 - Autosomal recessive spastic paraplegia type 54 - - Disease - - - Disorder - - - - 23176823[PMID] - - DDHD domain containing 2 - DDHD2 - - iPLA1gamma - p125B - KIAA0725 - SPG54 - iPLA1γ - iPLA1? - intracellular phospholipase A1 gamma - - - gene with protein product - - - - Reactome - O94830 - - - SwissProt - O94830 - - - Ensembl - ENSG00000085788 - - - Genatlas - DDHD2 - - - HGNC - 29106 - - - OMIM - 615003 - - - ClinVar - DDHD2 - - - - - 8p11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 320375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320375 - Autosomal recessive spastic paraplegia type 55 - - Disease - - - Disorder - - - - 23188110[PMID] - - mitochondrial translation release factor in rescue - MTRFR - - FLJ38663 - SPG55 - mtRF-R - COXPD7 - - - gene with protein product - - - - Ensembl - ENSG00000130921 - - - Genatlas - C12orf65 - - - HGNC - 26784 - - - OMIM - 613541 - - - SwissProt - Q9H3J6 - - - ClinVar - C12orf65 - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 320391 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320391 - Autosomal recessive spastic paraplegia type 46 - - Disease - - - Disorder - - - - 23332916[PMID] - - glucosylceramidase beta 2 - GBA2 - - AD035 - Bile acid beta-glucosidase - DKFZp762K054 - KIAA1605 - Non-lysosomal glucosylceramidase - bile acid beta-glucosidase - non-lysosomal glucosylceramidase - glucocerebrosidase 2 - - - gene with protein product - - - - HGNC - 18986 - - - OMIM - 609471 - - - Reactome - Q9HCG7 - - - SwissProt - Q9HCG7 - - - Ensembl - ENSG00000070610 - - - Genatlas - GBA2 - - - ClinVar - GBA2 - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 320385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320385 - Hereditary sensory and autonomic neuropathy due to TECPR2 mutation - - Disease - - - Disorder - - - - 23176824[PMID] - - tectonin beta-propeller repeat containing 2 - TECPR2 - - - - gene with protein product - - - - Ensembl - ENSG00000196663 - - - Genatlas - TECPR2 - - - HGNC - 19957 - - - OMIM - 615000 - - - SwissProt - O15040 - - - ClinVar - TECPR2 - - - - - 14q32.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 320401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320401 - Autosomal recessive spastic paraplegia type 44 - - Disease - - - Disorder - - - - 19056803[PMID] - - gap junction protein gamma 2 - GJC2 - - CX46.6 - CX47 - SPG44 - connexin 47 - - - gene with protein product - - - - ClinVar - GJC2 - - - Ensembl - ENSG00000198835 - - - Genatlas - GJC2 - - - HGNC - 17494 - - - OMIM - 608803 - - - Reactome - Q5T442 - - - SwissProt - Q5T442 - - - IUPHAR - 731 - - - - - 1q42.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 320396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320396 - Autosomal recessive spastic paraplegia type 45 - - Disease - - - Disorder - - - - 24482476[PMID] - - 5'-nucleotidase, cytosolic II - NT5C2 - - GMP - PNT5 - SPG65 - cN-II - purine 5' nucleotidase - - - gene with protein product - - - - ClinVar - NT5C2 - - - Ensembl - ENSG00000076685 - - - Genatlas - NT5C2 - - - HGNC - 8022 - - - OMIM - 600417 - - - Reactome - P49902 - - - SwissProt - P49902 - - - IUPHAR - 1236 - - - - - 10q24.32-q24.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 320411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320411 - Autosomal recessive spastic paraplegia type 56 - - Disease - - - Disorder - - - - 23176821[PMID] - - cytochrome P450 family 2 subfamily U member 1 - CYP2U1 - - SPG49 - spastic paraplegia 49 - - - gene with protein product - - - - Ensembl - ENSG00000155016 - - - Genatlas - CYP2U1 - - - HGNC - 20582 - - - OMIM - 610670 - - - Reactome - Q7Z449 - - - SwissProt - Q7Z449 - - - IUPHAR - 1335 - - - ClinVar - CYP2U1 - - - - - 4q25 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 320406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320406 - Spastic paraplegia-optic atrophy-neuropathy syndrome - - Disease - - - Disorder - - - - 24482476[PMID] - - fibronectin leucine rich transmembrane protein 1 - FLRT1 - - MGC21624 - SPG68 - - - gene with protein product - - - - Reactome - Q9NZU1 - - - Ensembl - ENSG00000126500 - - - Genatlas - FLRT1 - - - HGNC - 3760 - - - OMIM - 604806 - - - SwissProt - Q9NZU1 - - - ClinVar - FLRT1 - - - - - 11q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26385635[PMID] - - kinesin light chain 2 - KLC2 - - FLJ12387 - - - gene with protein product - - - - Ensembl - ENSG00000174996 - - - Genatlas - KLC2 - - - HGNC - 20716 - - - OMIM - 611729 - - - Reactome - Q9H0B6 - - - SwissProt - Q9H0B6 - - - ClinVar - KLC2 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 319547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319547 - Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency - - Disease - - - Disorder - - - - - - interferon gamma receptor 2 - IFNGR2 - - AF-1 - - - gene with protein product - - - - ClinVar - IFNGR2 - - - HGNC - 5440 - - - OMIM - 147569 - - - Reactome - P38484 - - - SwissProt - P38484 - - - IUPHAR - 1726 - - - Ensembl - ENSG00000159128 - - - Genatlas - IFNGR2 - - - - - 21q22.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 319519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319519 - Combined oxidative phosphorylation defect type 14 - - Disease - - - Disorder - - - - 22499341[PMID] - - phenylalanyl-tRNA synthetase 2, mitochondrial - FARS2 - - mtPheRS - phenylalanine tRNA ligase 2, mitochondrial - Phenylalanine tRNA ligase 2, mitochondrial - dJ236A3.1 - - - gene with protein product - - - - Ensembl - ENSG00000145982 - - - Genatlas - FARS2 - - - HGNC - 21062 - - - OMIM - 611592 - - - Reactome - O95363 - - - SwissProt - O95363 - - - ClinVar - FARS2 - - - - - 6p25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 319524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319524 - Combined oxidative phosphorylation defect type 15 - - Disease - - - Disorder - - - - 21907147[PMID] - - mitochondrial methionyl-tRNA formyltransferase - MTFMT - - FMT1 - - - gene with protein product - - - - Ensembl - ENSG00000103707 - - - Genatlas - MTFMT - - - HGNC - 29666 - - - OMIM - 611766 - - - Reactome - Q96DP5 - - - SwissProt - Q96DP5 - - - ClinVar - MTFMT - - - - - 15q22.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 319509 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319509 - Combined oxidative phosphorylation defect type 9 - - Disease - - - Disorder - - - - 21786366[PMID] - - mitochondrial ribosomal protein L3 - MRPL3 - - MRL3 - uL3m - - - gene with protein product - - - - Ensembl - ENSG00000114686 - - - Genatlas - MRPL3 - - - HGNC - 10379 - - - OMIM - 607118 - - - Reactome - P09001 - - - SwissProt - P09001 - - - ClinVar - MRPL3 - - - - - 3q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 319514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319514 - Combined oxidative phosphorylation defect type 13 - - Disease - - - Disorder - - - - 23084291[PMID] - - polyribonucleotide nucleotidyltransferase 1 - PNPT1 - - 3'-5' RNA exonuclease - OLD35 - PNPase - Polynucleotide phosphorylase - old-35 - polynucleotide phosphorylase - - - gene with protein product - - - - ClinVar - PNPT1 - - - Ensembl - ENSG00000138035 - - - Genatlas - PNPT1 - - - HGNC - 23166 - - - OMIM - 610316 - - - SwissProt - Q8TCS8 - - - - - 2p16.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 319589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319589 - Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency - - Disease - - - Disorder - - - - - - interferon gamma receptor 2 - IFNGR2 - - AF-1 - - - gene with protein product - - - - ClinVar - IFNGR2 - - - HGNC - 5440 - - - OMIM - 147569 - - - Reactome - P38484 - - - SwissProt - P38484 - - - IUPHAR - 1726 - - - Ensembl - ENSG00000159128 - - - Genatlas - IFNGR2 - - - - - 21q22.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 319595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319595 - Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency - - Disease - - - Disorder - - - - - - signal transducer and activator of transcription 1 - STAT1 - - ISGF-3 - STAT91 - transcription factor ISGF-3 components p91/p84 - - - gene with protein product - - - - Ensembl - ENSG00000115415 - - - Genatlas - STAT1 - - - HGNC - 11362 - - - OMIM - 600555 - - - Reactome - P42224 - - - SwissProt - P42224 - - - ClinVar - STAT1 - - - - - 2q32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 319574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319574 - Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency - - Disease - - - Disorder - - - - - - interferon gamma receptor 2 - IFNGR2 - - AF-1 - - - gene with protein product - - - - ClinVar - IFNGR2 - - - HGNC - 5440 - - - OMIM - 147569 - - - Reactome - P38484 - - - SwissProt - P38484 - - - IUPHAR - 1726 - - - Ensembl - ENSG00000159128 - - - Genatlas - IFNGR2 - - - - - 21q22.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 319581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319581 - Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency - - Disease - - - Disorder - - - - - - interferon gamma receptor 1 - IFNGR1 - - CD119 - - - gene with protein product - - - - ClinVar - IFNGR1 - - - IUPHAR - 1725 - - - Ensembl - ENSG00000027697 - - - Genatlas - IFNGR1 - - - HGNC - 5439 - - - OMIM - 107470 - - - Reactome - P15260 - - - SwissProt - P15260 - - - - - 6q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 319563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319563 - Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency - - Disease - - - Disorder - - - - 22859821[PMID] - - ISG15 ubiquitin like modifier - ISG15 - - IFI15 - UCRP - - - gene with protein product - - - - Ensembl - ENSG00000187608 - - - Genatlas - ISG15 - - - HGNC - 4053 - - - OMIM - 147571 - - - Reactome - P05161 - - - SwissProt - P05161 - - - ClinVar - ISG15 - - - - - 1p36.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 319569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319569 - Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency - - Disease - - - Disorder - - - - - - interferon gamma receptor 1 - IFNGR1 - - CD119 - - - gene with protein product - - - - ClinVar - IFNGR1 - - - IUPHAR - 1725 - - - Ensembl - ENSG00000027697 - - - Genatlas - IFNGR1 - - - HGNC - 5439 - - - OMIM - 107470 - - - Reactome - P15260 - - - SwissProt - P15260 - - - - - 6q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 319552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319552 - Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency - - Disease - - - Disorder - - - - - - interleukin 12 receptor subunit beta 1 - IL12RB1 - - CD212 - - - gene with protein product - - - - Reactome - P42701 - - - ClinVar - IL12RB1 - - - Ensembl - ENSG00000096996 - - - Genatlas - IL12RB1 - - - HGNC - 5971 - - - OMIM - 601604 - - - SwissProt - P42701 - - - IUPHAR - 1715 - - - - - 19p13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 319558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319558 - Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency - - Disease - - - Disorder - - - - - - interleukin 12B - IL12B - - CLMF - CLMF2 - IL-12B - IL12, subunit p40 - NKSF - cytotoxic lymphocyte maturation factor 2, p40 - interleukin 12, p40 - interleukin-12 beta chain - natural killer cell stimulatory factor, 40 kD subunit - natural killer cell stimulatory factor-2 - - - gene with protein product - - - - Reactome - P29460 - - - ClinVar - IL12B - - - Genatlas - IL12B - - - HGNC - 5970 - - - OMIM - 161561 - - - SwissProt - P29460 - - - Ensembl - ENSG00000113302 - - - - - 5q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 319651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319651 - Constitutional megaloblastic anemia with severe neurologic disease - - Disease - - - Disorder - - - - 21310276[PMID]_21310277[PMID] - - dihydrofolate reductase - DHFR - - DHFR1 - - - gene with protein product - - - - ClinVar - DHFR - - - HGNC - 2861 - - - IUPHAR - 2603 - - - OMIM - 126060 - - - Reactome - P00374 - - - SwissProt - P00374 - - - Ensembl - ENSG00000228716 - - - Genatlas - DHFR - - - - - 5q14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 319646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319646 - PGM1-CDG - - Disease - - - Disorder - - - - 22492991[PMID]_24499211[PMID]_19625727[PMID] - - phosphoglucomutase 1 - PGM1 - - - - gene with protein product - - - - SwissProt - P36871 - - - Ensembl - ENSG00000079739 - - - Genatlas - PGM1 - - - HGNC - 8905 - - - OMIM - 171900 - - - Reactome - P36871 - - - ClinVar - PGM1 - - - - - 1p31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 319640 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319640 - Retinal macular dystrophy type 2 - - Disease - - - Disorder - - - - 20393116[PMID] - - prominin 1 - PROM1 - - AC133 - CD133 - CORD12 - RP41 - AC133 antigen - Retinitis pigmentosa 41, Cone-rod dystrophy 12 - - - gene with protein product - - - - ClinVar - PROM1 - - - Ensembl - ENSG00000007062 - - - Genatlas - PROM1 - - - HGNC - 9454 - - - OMIM - 604365 - - - SwissProt - O43490 - - - - - 4p15.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 319635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319635 - Amyloidosis cutis dyschromia - - Disease - - - Disorder - - - - 29336782[PMID] - - glycoprotein nmb - GPNMB - - glycoprotein NMB - glycoprotein nmb-like protein - glycoprotein nonmetastatic melanoma protein B - hematopoietic growth factor inducible neurokinin-1 - HGFIN - NMB - osteoactivin - transmembrane glycoprotein - - - gene with protein product - - - - ClinVar - GPNMB - - - HGNC - 4462 - - - Ensembl - ENSG00000136235 - - - SwissProt - Q14956 - - - OMIM - 604368 - - - Genatlas - GPNMB - - - Reactome - Q14956 - - - - - 7p15.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 319605 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319605 - X-linked mendelian susceptibility to mycobacterial diseases - - Disease - - - Disorder - - - - 21278736[PMID] - - cytochrome b-245 beta chain - CYBB - - NADPH oxidase 2 - GP91-PHOX - NOX2 - GP91PHOX - p91-PHOX - Cytochrome b-245 heavy chain - Cytochrome b558 subunit beta - - - gene with protein product - - - - Ensembl - ENSG00000165168 - - - IUPHAR - 3002 - - - Genatlas - CYBB - - - HGNC - 2578 - - - OMIM - 300481 - - - Reactome - P04839 - - - SwissProt - P04839 - - - ClinVar - CYBB - - - - - Xp21.1-p11.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 319600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319600 - Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency - - Disease - - - Disorder - - - - - - interferon regulatory factor 8 - IRF8 - - ICSBP - IRF-8 - - - gene with protein product - - - - Ensembl - ENSG00000140968 - - - Genatlas - IRF8 - - - HGNC - 5358 - - - OMIM - 601565 - - - Reactome - Q02556 - - - SwissProt - Q02556 - - - ClinVar - IRF8 - - - - - 16q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 319678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319678 - Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome - - Disease - - - Disorder - - - - 19375058[PMID] - - coenzyme Q9 - COQ9 - - DKFZP434K046 - - - gene with protein product - - - - Reactome - O75208 - - - ClinVar - COQ9 - - - Ensembl - ENSG00000088682 - - - Genatlas - COQ9 - - - HGNC - 25302 - - - OMIM - 612837 - - - SwissProt - O75208 - - - - - 16q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31240163[PMID]_28409910[PMID]_26084283[PMID] - - coenzyme Q7, hydroxylase - COQ7 - - CAT5 - CLK-1 - 5-demethoxyubiquinone hydroxylase - - - gene with protein product - - - - OMIM - 601683 - - - Ensembl - ENSG00000167186 - - - SwissProt - Q99807 - - - HGNC - 2244 - - - Genatlas - COQ7 - - - Reactome - Q99807 - - - ClinVar - COQ7 - - - - - 16p12.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 319675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319675 - Microcephalic primordial dwarfism, Dauber type - - Malformation syndrome - - - Disorder - - - - 22933543[PMID] - - ninein - NIN - - - - gene with protein product - - - - Reactome - Q8N4C6 - - - Ensembl - ENSG00000100503 - - - Genatlas - NIN - - - HGNC - 14906 - - - OMIM - 608684 - - - SwissProt - Q8N4C6 - - - ClinVar - NIN - - - - - 14q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 319671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319671 - Alazami syndrome - - Malformation syndrome - - - Disorder - - - - 22865833[PMID] - - La ribonucleoprotein 7, transcriptional regulator - LARP7 - - DKFZP564K112 - HDCMA18P - P-TEFb-interaction protein for 7SK stability - PIP7S - - - gene with protein product - - - - Ensembl - ENSG00000174720 - - - Genatlas - LARP7 - - - HGNC - 24912 - - - OMIM - 612026 - - - SwissProt - Q4G0J3 - - - Reactome - Q4G0J3 - - - ClinVar - LARP7 - - - - - 4q25 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 319298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319298 - Papillary renal cell carcinoma - - Disease - - - Disorder - - - - 26536169[PMID] - - MET proto-oncogene, receptor tyrosine kinase - MET - - DFNB97 - HGFR - RCCP2 - hepatocyte growth factor receptor - - - gene with protein product - - - - Ensembl - ENSG00000105976 - - - Genatlas - MET - - - HGNC - 7029 - - - IUPHAR - 1815 - - - OMIM - 164860 - - - Reactome - P08581 - - - SwissProt - P08581 - - - ClinVar - MET - - - - - 7q31.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 22012259[PMID] - - melanocyte inducing transcription factor - MITF - - MI - bHLHe32 - homolog of mouse microphthalmia - - - gene with protein product - - - - Ensembl - ENSG00000187098 - - - Genatlas - MITF - - - HGNC - 7105 - - - OMIM - 156845 - - - Reactome - O75030 - - - SwissProt - O75030 - - - ClinVar - MITF - - - - - 3p13 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 319303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319303 - Chromophobe renal cell carcinoma - - Disease - - - Disorder - - - - 8620471[PMID]_15649945[PMID] - - HNF1 homeobox A - HNF1A - - HNF1 - LFB1 - HNF1a - HNF1α - - - gene with protein product - - - - ClinVar - HNF1A - - - Genatlas - HNF1A - - - HGNC - 11621 - - - OMIM - 142410 - - - Reactome - P20823 - - - SwissProt - P20823 - - - Ensembl - ENSG00000135100 - - - - - 12q24.31 - 1 - - - - - Biomarker tested in - - - Not yet assessed - - - - - - 319308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319308 - MiT family translocation renal cell carcinoma - - Disease - - - Disorder - - - - 8872474[PMID]_22207547[PMID]_20073616[PMID] - - proline rich mitotic checkpoint control factor - PRCC - - RCCP1 - - - gene with protein product - - - - ClinVar - PRCC - - - Reactome - Q92733 - - - SwissProt - Q92733 - - - Ensembl - ENSG00000143294 - - - Genatlas - PRCC - - - HGNC - 9343 - - - OMIM - 179755 - - - - - 1q23.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 23426439[PMID]_22207547[PMID] - - transcription factor binding to IGHM enhancer 3 - TFE3 - - TFEA - bHLHe33 - transcription factor E family, member A - - - gene with protein product - - - - Reactome - P19532 - - - ClinVar - TFE3 - - - Ensembl - ENSG00000068323 - - - Genatlas - TFE3 - - - HGNC - 11752 - - - OMIM - 314310 - - - SwissProt - P19532 - - - - - Xp11.23 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 15992428[PMID]_22207547[PMID]_20073616[PMID] - - ASPSCR1 tether for SLC2A4, UBX domain containing - ASPSCR1 - - Tether containing UBX domain for GLUT4 - TUG - ASPL - ASPS - UBX domain protein 9 - UBXD9 - UBXN9 - - - gene with protein product - - - - OMIM - 606236 - - - Reactome - Q9BZE9 - - - SwissProt - Q9BZE9 - - - ClinVar - ASPSCR1 - - - Ensembl - ENSG00000169696 - - - Genatlas - ASPSCR1 - - - HGNC - 13825 - - - - - 17q25.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 12837690[PMID]_23426439[PMID] - - transcription factor EB - TFEB - - TCFEB - bHLHe35 - - - gene with protein product - - - - ClinVar - TFEB - - - Ensembl - ENSG00000112561 - - - Genatlas - TFEB - - - HGNC - 11753 - - - OMIM - 600744 - - - SwissProt - P19484 - - - - - 6p21.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 12917640[PMID]_20073616[PMID] - - clathrin heavy chain - CLTC - - Hc - - - gene with protein product - - - - ClinVar - CLTC - - - Ensembl - ENSG00000141367 - - - Genatlas - CLTC - - - HGNC - 2092 - - - OMIM - 118955 - - - Reactome - Q00610 - - - SwissProt - Q00610 - - - - - 17q23.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 9393982[PMID]_20073616[PMID] - - splicing factor proline and glutamine rich - SFPQ - - PPP1R140 - PSF - Polypyrimidine tract binding protein associated - protein phosphatase 1, regulatory subunit 140 - polypyrimidine tract binding protein associated - - - gene with protein product - - - - Reactome - P23246 - - - Ensembl - ENSG00000116560 - - - Genatlas - SFPQ - - - HGNC - 10774 - - - OMIM - 605199 - - - SwissProt - P23246 - - - ClinVar - SFPQ - - - - - 1p34.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 9393982[PMID]_20073616[PMID] - - non-POU domain containing octamer binding - NONO - - NMT55 - NRB54 - Nuclear RNA-binding protein, 54-kD - P54 - P54NRB - PPP1R114 - non-Pou domain-containing octamer (ATGCAAAT) binding protein - protein phosphatase 1, regulatory subunit 114 - - - gene with protein product - - - - Reactome - Q15233 - - - Ensembl - ENSG00000147140 - - - Genatlas - NONO - - - HGNC - 7871 - - - OMIM - 300084 - - - SwissProt - Q15233 - - - ClinVar - NONO - - - - - Xq13.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 319332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319332 - Autosomal recessive myogenic arthrogryposis multiplex congenita - - Disease - - - Disorder - - - - 19542096[PMID] - - spectrin repeat containing nuclear envelope protein 1 - SYNE1 - - 8B - ARCA1 - CPG2 - Enaptin - KIAA0796 - MYNE1 - Nesp1 - Nesprin-1 - SCAR8 - SYNE-1B - dJ45H2.2 - myocyte nuclear envelope protein 1 - nuclear envelope spectrin repeat-1 - enaptin - - - gene with protein product - - - - ClinVar - SYNE1 - - - Ensembl - ENSG00000131018 - - - Genatlas - SYNE1 - - - HGNC - 17089 - - - OMIM - 608441 - - - Reactome - Q8NF91 - - - SwissProt - Q8NF91 - - - - - 6q25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 319340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319340 - Carney complex-trismus-pseudocamptodactyly syndrome - - Disease - - - Disorder - - - - 15282353[PMID] - - myosin heavy chain 8 - MYH8 - - MyHC-peri - MyHC-pn - - - gene with protein product - - - - ClinVar - MYH8 - - - Ensembl - ENSG00000133020 - - - Genatlas - MYH8 - - - HGNC - 7578 - - - OMIM - 160741 - - - Reactome - P13535 - - - SwissProt - P13535 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 319487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319487 - Familial papillary or follicular thyroid carcinoma - - Disease - - - Disorder - - - - 11297621[PMID] - - multiple inositol-polyphosphate phosphatase 1 - MINPP1 - - MIPP - - - gene with protein product - - - - HGNC - 7102 - - - Ensembl - ENSG00000107789 - - - OMIM - 605391 - - - Genatlas - MINPP1 - - - Reactome - Q9UNW1 - - - SwissProt - Q9UNW1 - - - ClinVar - MINPP1 - - - - - 10q23.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 25381600[PMID] - - forkhead box E1 - FOXE1 - - HFKH4 - TTF-2 - thyroid transcription factor 2 - - - gene with protein product - - - - Ensembl - ENSG00000178919 - - - Genatlas - FOXE1 - - - HGNC - 3806 - - - OMIM - 602617 - - - SwissProt - O00358 - - - ClinVar - FOXE1 - - - - - 9q22.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26222560[PMID] - - hyaluronan binding protein 2 - HABP2 - - FSAP - HABP - HGFAL - PHBP - factor VII activating protein - plasma hyaluronan binding protein - - - gene with protein product - - - - Ensembl - ENSG00000148702 - - - Genatlas - HABP2 - - - HGNC - 4798 - - - OMIM - 603924 - - - SwissProt - Q14520 - - - ClinVar - HABP2 - - - - - 10q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 319480 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319480 - Acute myeloid leukemia with CEBPA somatic mutations - - Disease - - - Disorder - - - - 19357394[PMID]_22649106[PMID] - - CCAAT enhancer binding protein alpha - CEBPA - - C/EBP-alpha - - - gene with protein product - - - - Genatlas - CEBPA - - - HGNC - 1833 - - - OMIM - 116897 - - - Reactome - P49715 - - - SwissProt - P49715 - - - Ensembl - ENSG00000245848 - - - ClinVar - CEBPA - - - - - 19q13.11 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 319504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319504 - Combined oxidative phosphorylation defect type 8 - - Disease - - - Disorder - - - - 21549344[PMID] - - alanyl-tRNA synthetase 2, mitochondrial - AARS2 - - bA444E17.1 - KIAA1270 - alanine tRNA ligase 2, mitochondrial - - - gene with protein product - - - - Ensembl - ENSG00000124608 - - - Genatlas - AARS2 - - - HGNC - 21022 - - - OMIM - 612035 - - - Reactome - Q5JTZ9 - - - SwissProt - Q5JTZ9 - - - ClinVar - AARS2 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 319465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319465 - Inherited acute myeloid leukemia - - Disease - - - Disorder - - - - 22649106[PMID] - - CCAAT enhancer binding protein alpha - CEBPA - - C/EBP-alpha - - - gene with protein product - - - - Genatlas - CEBPA - - - HGNC - 1833 - - - OMIM - 116897 - - - Reactome - P49715 - - - SwissProt - P49715 - - - Ensembl - ENSG00000245848 - - - ClinVar - CEBPA - - - - - 19q13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24755948[PMID] - - transglutaminase 6 - TGM6 - - SCA35 - TGY - dJ734P14.3 - spinocerebellar ataxia 35 - protein-glutamine gamma-glutamyltransferase 6 - - - gene with protein product - - - - Genatlas - TGM6 - - - HGNC - 16255 - - - OMIM - 613900 - - - SwissProt - O95932 - - - ClinVar - TGM6 - - - Ensembl - ENSG00000166948 - - - - - 20p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30936069[PMID] - - ERCC excision repair 6 like 2 - ERCC6L2 - - FLJ37706 - RAD26L - HEBO - - - gene with protein product - - - - Ensembl - ENSG00000182150 - - - Genatlas - ERCC6L2 - - - HGNC - 26922 - - - OMIM - 615667 - - - SwissProt - Q5T890 - - - ClinVar - ERCC6L2 - - - - - 9q22.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 319462 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319462 - Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations - - Disease - - - Disorder - - - - 15689453[PMID]_16825431[PMID]_14670928[PMID] - - BRCA2 DNA repair associated - BRCA2 - - BRCA1/BRCA2-containing complex, subunit 2 - BRCC2 - FAD - FAD1 - XRCC11 - - - gene with protein product - - - - SwissProt - P51587 - - - Ensembl - ENSG00000139618 - - - Genatlas - BRCA2 - - - HGNC - 1101 - - - OMIM - 600185 - - - Reactome - P51587 - - - ClinVar - BRCA2 - - - - - 13q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 319199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319199 - Autosomal recessive spastic paraplegia type 53 - - Disease - - - Disorder - - - - 22717650[PMID] - - VPS37A subunit of ESCRT-I - VPS37A - - FLJ32642 - HCRP1 - SPG53 - hepatocellular carcinoma related protein 1 - - - gene with protein product - - - - Ensembl - ENSG00000155975 - - - Genatlas - VPS37A - - - HGNC - 24928 - - - OMIM - 609927 - - - Reactome - Q8NEZ2 - - - SwissProt - Q8NEZ2 - - - ClinVar - VPS37A - - - - - 8p22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 319160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319160 - Congenital myopathy with internal nuclei and atypical cores - - Disease - - - Disorder - - - - 22818856[PMID] - - coiled-coil domain containing 78 - CCDC78 - - FLJ34512 - sarcoplasmin - - - gene with protein product - - - - ClinVar - CCDC78 - - - Ensembl - ENSG00000162004 - - - Genatlas - CCDC78 - - - HGNC - 14153 - - - OMIM - 614666 - - - SwissProt - A2IDD5 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 319189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319189 - Familial cortical myoclonus - - Disease - - - Disorder - - - - 22926851[PMID] - - nucleolar protein 3 - NOL3 - - ARC - CARD2 - MYP - NOP30 - - - gene with protein product - - - - ClinVar - NOL3 - - - Reactome - O60936 - - - Genatlas - NOL3 - - - HGNC - 7869 - - - OMIM - 605235 - - - SwissProt - O60936 - - - Ensembl - ENSG00000140939 - - - - - 16q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 319192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319192 - Diencephalic-mesencephalic junction dysplasia - - Morphological anomaly - - - Disorder - - - - 31412107[PMID] - - GS homeobox 2 - GSX2 - - Gsh2 - - - gene with protein product - - - - HGNC - 24959 - - - OMIM - 616253 - - - Ensembl - ENSG00000180613 - - - SwissProt - Q9BZM3 - - - - - 4q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30178464[PMID] - - protocadherin 12 - PCDH12 - - VE-cadherin-2 - - - gene with protein product - - - - HGNC - 8657 - - - Ensembl - ENSG00000113555 - - - SwissProt - Q9NPG4 - - - OMIM - 605622 - - - - - 5q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 319182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319182 - Wiedemann-Steiner syndrome - - Malformation syndrome - - - Disorder - - - - 22795537[PMID] - - lysine methyltransferase 2A - KMT2A - - HTRX - ALL1 - ALL-1 - CXXC7 - HRX - HTRX1 - MLL1A - TRX1 - MLL1 - Histone-lysine N-methyltransferase 2A - - - gene with protein product - - - - ClinVar - KMT2A - - - IUPHAR - 2688 - - - Ensembl - ENSG00000118058 - - - Genatlas - KMT2A - - - HGNC - 7132 - - - OMIM - 159555 - - - Reactome - Q03164 - - - SwissProt - Q03164 - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 317428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317428 - Combined immunodeficiency due to ORAI1 deficiency - - Clinical subtype - - - Subtype of disorder - - - - - - ORAI calcium release-activated calcium modulator 1 - ORAI1 - - CRACM1 - FLJ14466 - calcium release-activated calcium modulator 1 - - - gene with protein product - - - - Ensembl - ENSG00000276045 - - - Genatlas - ORAI1 - - - HGNC - 25896 - - - OMIM - 610277 - - - Reactome - Q96D31 - - - SwissProt - Q96D31 - - - IUPHAR - 2964 - - - ClinVar - ORAI1 - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 317425 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317425 - Severe combined immunodeficiency due to DNA-PKcs deficiency - - Disease - - - Disorder - - - - 19823081[PMID] - - protein kinase, DNA-activated, catalytic subunit - PRKDC - - DNA-dependent protein kinase - DNA-PKcs - DNAPK - DNPK1 - XRCC7 - p350 - p460 - DNAPKc - DNA-PKC - DNA-dependent protein kinase catalytic subunit - - - gene with protein product - - - - Ensembl - ENSG00000253729 - - - Genatlas - PRKDC - - - HGNC - 9413 - - - OMIM - 600899 - - - Reactome - P78527 - - - SwissProt - P78527 - - - IUPHAR - 2800 - - - ClinVar - PRKDC - - - - - 8q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 317430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317430 - Combined immunodeficiency due to STIM1 deficiency - - Clinical subtype - - - Subtype of disorder - - - - - - stromal interaction molecule 1 - STIM1 - - D11S4896E - GOK - - - gene with protein product - - - - Genatlas - STIM1 - - - HGNC - 11386 - - - OMIM - 605921 - - - Reactome - Q13586 - - - SwissProt - Q13586 - - - Ensembl - ENSG00000167323 - - - ClinVar - STIM1 - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 317473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317473 - Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency - - Disease - - - Disorder - - - - 21548011[PMID]_26981933[PMID] - - IKAROS family zinc finger 1 - IKZF1 - - Hs.54452 - IKAROS - LyF-1 - PPP1R92 - hIk-1 - protein phosphatase 1, regulatory subunit 92 - - - gene with protein product - - - - OMIM - 603023 - - - SwissProt - Q13422 - - - Ensembl - ENSG00000185811 - - - Genatlas - IKZF1 - - - HGNC - 13176 - - - Reactome - Q13422 - - - ClinVar - IKZF1 - - - - - 7p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 317476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317476 - XMEN - - Disease - - - Disorder - - - - - - magnesium transporter 1 - MAGT1 - - SLC58A1 - DKFZp564K142 - IAP - MRX95 - OST3B - oligosaccharyltransferase 3 homolog B (S. cerevisiae) - - - gene with protein product - - - - IUPHAR - 3039 - - - Ensembl - ENSG00000102158 - - - Genatlas - MAGT1 - - - HGNC - 28880 - - - OMIM - 300715 - - - Reactome - Q9H0U3 - - - SwissProt - Q9H0U3 - - - ClinVar - MAGT1 - - - - - Xq21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 315311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315311 - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form - - Clinical subtype - - - Subtype of disorder - - - - - - cytochrome P450 family 21 subfamily A member 2 - CYP21A2 - - CA21H - CAH1 - CPS1 - P450c21B - Steroid 21-monooxygenase - - - gene with protein product - - - - ClinVar - CYP21A2 - - - IUPHAR - 1364 - - - Ensembl - ENSG00000231852 - - - Genatlas - CYP21A2 - - - HGNC - 2600 - - - OMIM - 613815 - - - Reactome - P08686 - - - SwissProt - P08686 - - - - - 6p21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 315306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315306 - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form - - Clinical subtype - - - Subtype of disorder - - - - - - cytochrome P450 family 21 subfamily A member 2 - CYP21A2 - - CA21H - CAH1 - CPS1 - P450c21B - Steroid 21-monooxygenase - - - gene with protein product - - - - ClinVar - CYP21A2 - - - IUPHAR - 1364 - - - Ensembl - ENSG00000231852 - - - Genatlas - CYP21A2 - - - HGNC - 2600 - - - OMIM - 613815 - - - Reactome - P08686 - - - SwissProt - P08686 - - - - - 6p21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 314978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314978 - X-linked non progressive cerebellar ataxia - - Disease - - - Disorder - - - - - - ATPase plasma membrane Ca2+ transporting 3 - ATP2B3 - - CFAP39 - PMCA3 - Plasma membrane calcium-transporting ATPase 3 - cilia and flagella associated protein 39 - plasma membrane calcium-transporting ATPase 3 - - - gene with protein product - - - - Ensembl - ENSG00000067842 - - - Genatlas - ATP2B3 - - - HGNC - 816 - - - OMIM - 300014 - - - Reactome - Q16720 - - - SwissProt - Q16720 - - - IUPHAR - 845 - - - ClinVar - ATP2B3 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 314950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314950 - Primary hypereosinophilic syndrome - - Disease - - - Disorder - - - - 22460074[PMID]_24577808[PMID] - - fibroblast growth factor receptor 1 - FGFR1 - - BFGFR - CD331 - CEK - FLG - H2 - H3 - H4 - H5 - N-SAM - Pfeiffer syndrome - - - gene with protein product - - - - Ensembl - ENSG00000077782 - - - Genatlas - FGFR1 - - - HGNC - 3688 - - - IUPHAR - 1808 - - - OMIM - 136350 - - - Reactome - P11362 - - - SwissProt - P11362 - - - ClinVar - FGFR1 - - - - - 8p11.23 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 22460074[PMID]_24577808[PMID] - - factor interacting with PAPOLA and CPSF1 - FIP1L1 - - DKFZp586K0717 - FIP1 - hFip1 - - - gene with protein product - - - - ClinVar - FIP1L1 - - - Ensembl - ENSG00000145216 - - - Genatlas - FIP1L1 - - - HGNC - 19124 - - - OMIM - 607686 - - - Reactome - Q6UN15 - - - SwissProt - Q6UN15 - - - - - 4q12 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 22460074[PMID]_24577808[PMID] - - platelet derived growth factor receptor alpha - PDGFRA - - CD140a - GAS9 - PDGFR2 - - - gene with protein product - - - - Ensembl - ENSG00000134853 - - - Genatlas - PDGFRA - - - HGNC - 8803 - - - IUPHAR - 1803 - - - OMIM - 173490 - - - Reactome - P16234 - - - SwissProt - P16234 - - - ClinVar - PDGFRA - - - - - 4q12 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 22460074[PMID]_24577808[PMID] - - platelet derived growth factor receptor beta - PDGFRB - - CD140b - JTK12 - PDGFR1 - - - gene with protein product - - - - ClinVar - PDGFRB - - - Ensembl - ENSG00000113721 - - - Genatlas - PDGFRB - - - HGNC - 8804 - - - IUPHAR - 1804 - - - OMIM - 173410 - - - Reactome - P09619 - - - SwissProt - P09619 - - - - - 5q32 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 22460074[PMID]_24577808[PMID] - - ETS variant transcription factor 6 - ETV6 - - TEL - TEL oncogene - - - gene with protein product - - - - Reactome - P41212 - - - Ensembl - ENSG00000139083 - - - Genatlas - ETV6 - - - HGNC - 3495 - - - OMIM - 600618 - - - SwissProt - P41212 - - - ClinVar - ETV6 - - - - - 12p13.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 314918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314918 - Mild Canavan disease - - Clinical subtype - - - Subtype of disorder - - - - 20301412[PMID]_21625469[PMID] - - aspartoacylase - ASPA - - ACY2 - ASP - Canavan disease - aminoacylase 2 - “cytosolic aspartoacylase” - “cytosolic aspartoacylase” - - - gene with protein product - - - - ClinVar - ASPA - - - Ensembl - ENSG00000108381 - - - Genatlas - ASPA - - - HGNC - 756 - - - OMIM - 608034 - - - Reactome - P45381 - - - SwissProt - P45381 - - - - - 17p13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 314911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314911 - Severe Canavan disease - - Clinical subtype - - - Subtype of disorder - - - - 20301412[PMID]_21625469[PMID] - - aspartoacylase - ASPA - - ACY2 - ASP - Canavan disease - aminoacylase 2 - “cytosolic aspartoacylase” - “cytosolic aspartoacylase” - - - gene with protein product - - - - ClinVar - ASPA - - - Ensembl - ENSG00000108381 - - - Genatlas - ASPA - - - HGNC - 756 - - - OMIM - 608034 - - - Reactome - P45381 - - - SwissProt - P45381 - - - - - 17p13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 314679 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314679 - Cerebrofacioarticular syndrome - - Malformation syndrome - - - Disorder - - - - 24056717[PMID] - - dachsous cadherin-related 1 - DCHS1 - - CDHR6 - FIB1 - FLJ11790 - KIAA1773 - cadherin-related family member 6 - - - gene with protein product - - - - Ensembl - ENSG00000166341 - - - Genatlas - DCHS1 - - - HGNC - 13681 - - - OMIM - 603057 - - - SwissProt - Q96JQ0 - - - ClinVar - DCHS1 - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24056717[PMID] - - FAT atypical cadherin 4 - FAT4 - - CDHF14 - CDHR11 - FAT-J - cadherin-related family member 11 - - - gene with protein product - - - - HGNC - 23109 - - - OMIM - 612411 - - - SwissProt - Q6V0I7 - - - Ensembl - ENSG00000196159 - - - Genatlas - FAT4 - - - ClinVar - FAT4 - - - - - 4q28.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 314667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314667 - TMEM165-CDG - - Disease - - - Disorder - - - - 22683087[PMID] - - transmembrane protein 165 - TMEM165 - - GDT1 - TMPT27 - TPA regulated locus - TPARL - SLC64A1 - - - gene with protein product - - - - Ensembl - ENSG00000134851 - - - Genatlas - TMEM165 - - - HGNC - 30760 - - - OMIM - 614726 - - - SwissProt - Q9HC07 - - - ClinVar - TMEM165 - - - IUPHAR - 3050 - - - - - 4q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 314689 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314689 - Combined immunodeficiency due to STK4 deficiency - - Disease - - - Disorder - - - - 22294732[PMID]_22174160[PMID] - - serine/threonine kinase 4 - STK4 - - KRS2 - Kinase responsive to stress 2 - MST1 - Mammalian sterile 20-like 1 - YSK3 - Yeast Ste20-like - yeast Ste20-like - hippo (Drosophila) homolog - kinase responsive to stress 2 - mammalian sterile 20-like 1 - - - gene with protein product - - - - Ensembl - ENSG00000101109 - - - Genatlas - STK4 - - - HGNC - 11408 - - - IUPHAR - 2225 - - - OMIM - 604965 - - - Reactome - Q13043 - - - SwissProt - Q13043 - - - ClinVar - STK4 - - - - - 20q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 314652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314652 - Variant ABeta2M amyloidosis - - Disease - - - Disorder - - - - 22693999[PMID] - - beta-2-microglobulin - B2M - - - - gene with protein product - - - - Ensembl - ENSG00000166710 - - - Genatlas - B2M - - - HGNC - 914 - - - OMIM - 109700 - - - Reactome - P61769 - - - SwissProt - P61769 - - - ClinVar - B2M - - - - - 15q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 314647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314647 - Non-progressive cerebellar ataxia with intellectual disability - - Disease - - - Disorder - - - - 22693284[PMID] - - calmodulin binding transcription activator 1 - CAMTA1 - - KIAA0833 - - - gene with protein product - - - - Ensembl - ENSG00000171735 - - - Genatlas - CAMTA1 - - - HGNC - 18806 - - - OMIM - 611501 - - - SwissProt - Q9Y6Y1 - - - ClinVar - CAMTA1 - - - - - 1p36.31-p36.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 33783914[PMID] - - POU class 4 homeobox 1 - POU4F1 - - RDC-1 - - - gene with protein product - - - - Ensembl - ENSG00000152192 - - - OMIM - 601632 - - - SwissProt - Q01851 - - - HGNC - 9218 - - - - - 13q31.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 314662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314662 - Segmental progressive overgrowth syndrome with fibroadipose hyperplasia - - Disease - - - Disorder - - - - 22729222[PMID] - - phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha - PIK3CA - - PI3K - - - gene with protein product - - - - Reactome - P42336 - - - SwissProt - P42336 - - - Ensembl - ENSG00000121879 - - - Genatlas - PIK3CA - - - HGNC - 8975 - - - IUPHAR - 2153 - - - OMIM - 171834 - - - ClinVar - PIK3CA - - - - - 3q26.32 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 314655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314655 - Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion - - Etiological subtype - - - Subtype of disorder - - - - 23950017[PMID] - - purine rich element binding protein A - PURA - - PUR1 - PURALPHA - PUR-ALPHA - - - gene with protein product - - - - Reactome - Q00577 - - - ClinVar - PURA - - - Ensembl - ENSG00000185129 - - - Genatlas - PURA - - - HGNC - 9701 - - - OMIM - 600473 - - - SwissProt - Q00577 - - - - - 5q31.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 314629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314629 - CLN11 disease - - Disease - - - Disorder - - - - 32412666[PMID]_34733232[PMID]_34684815[PMID] - - granulin precursor - GRN - - CLN11 - PCDGF - PGRN - progranulin - - - gene with protein product - - - - Reactome - P28799 - - - ClinVar - GRN - - - Ensembl - ENSG00000030582 - - - Genatlas - GRN - - - HGNC - 4601 - - - OMIM - 138945 - - - SwissProt - P28799 - - - - - 17q21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 314637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314637 - Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency - - Disease - - - Disorder - - - - - - mitochondrial tRNA translation optimization 1 - MTO1 - - - - gene with protein product - - - - Ensembl - ENSG00000135297 - - - Genatlas - MTO1 - - - HGNC - 19261 - - - OMIM - 614667 - - - Reactome - Q9Y2Z2 - - - SwissProt - Q9Y2Z2 - - - ClinVar - MTO1 - - - - - 6q13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 314632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314632 - CLN12 disease - - Disease - - - Disorder - - - - 22388936[PMID] - - ATPase cation transporting 13A2 - ATP13A2 - - CLN12 - HSA9947 - - - gene with protein product - - - - IUPHAR - 3156 - - - ClinVar - ATP13A2 - - - Ensembl - ENSG00000159363 - - - Genatlas - ATP13A2 - - - HGNC - 30213 - - - OMIM - 610513 - - - Reactome - Q9NQ11 - - - SwissProt - Q9NQ11 - - - - - 1p36.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 314802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314802 - Short stature due to partial GHR deficiency - - Disease - - - Disorder - - - - - - growth hormone receptor - GHR - - GHBP - growth hormone binding protein - - - gene with protein product - - - - ClinVar - GHR - - - Ensembl - ENSG00000112964 - - - Genatlas - GHR - - - HGNC - 4263 - - - IUPHAR - 1720 - - - OMIM - 600946 - - - Reactome - P10912 - - - SwissProt - P10912 - - - - - 5p13.1-p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 314811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314811 - Short stature due to GHSR deficiency - - Disease - - - Disorder - - - - - - growth hormone secretagogue receptor - GHSR - - GHS-R1a - GHS-R - GHSR-1a - ghrelin receptor - - - gene with protein product - - - - ClinVar - GHSR - - - Ensembl - ENSG00000121853 - - - Genatlas - GHSR - - - HGNC - 4267 - - - IUPHAR - 246 - - - OMIM - 601898 - - - Reactome - Q92847 - - - SwissProt - Q92847 - - - - - 3q26.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 314777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314777 - Familial isolated pituitary adenoma - - Disease - - - Disorder - - - - 28413019[PMID] - - cadherin related 23 - CDH23 - - CDHR23 - cadherin-related family member 23 - - - gene with protein product - - - - Ensembl - ENSG00000107736 - - - Genatlas - CDH23 - - - HGNC - 13733 - - - OMIM - 605516 - - - SwissProt - Q9H251 - - - ClinVar - CDH23 - - - - - 10q22.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22720333[PMID] - - AHR interacting HSP90 co-chaperone - AIP - - ARA9 - FKBP16 - XAP2 - aryl hydrocarbon receptor-associated protein 9 - X-associated protein-2 - hepatitis B virus X-associated cellular protein 2 - FKBP37 - FKBP prolyl isomerase 16 - FK506-binding protein 37 - Ah receptor activated 9 - - - gene with protein product - - - - ClinVar - AIP - - - Reactome - O00170 - - - Ensembl - ENSG00000110711 - - - Genatlas - AIP - - - HGNC - 358 - - - OMIM - 605555 - - - SwissProt - O00170 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 314786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314786 - Silent pituitary adenoma - - Histopathological subtype - - - Subtype of disorder - - - - 23321498[PMID] - - menin 1 - MEN1 - - menin - - - gene with protein product - - - - Ensembl - ENSG00000133895 - - - Genatlas - MEN1 - - - HGNC - 7010 - - - OMIM - 613733 - - - Reactome - O00255 - - - SwissProt - O00255 - - - ClinVar - MEN1 - - - - - 11q13 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23321498[PMID] - - AHR interacting HSP90 co-chaperone - AIP - - ARA9 - FKBP16 - XAP2 - aryl hydrocarbon receptor-associated protein 9 - X-associated protein-2 - hepatitis B virus X-associated cellular protein 2 - FKBP37 - FKBP prolyl isomerase 16 - FK506-binding protein 37 - Ah receptor activated 9 - - - gene with protein product - - - - ClinVar - AIP - - - Reactome - O00170 - - - Ensembl - ENSG00000110711 - - - Genatlas - AIP - - - HGNC - 358 - - - OMIM - 605555 - - - SwissProt - O00170 - - - - - 11q13.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 314790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314790 - Null pituitary adenoma - - Histopathological subtype - - - Subtype of disorder - - - - 23321498[PMID] - - menin 1 - MEN1 - - menin - - - gene with protein product - - - - Ensembl - ENSG00000133895 - - - Genatlas - MEN1 - - - HGNC - 7010 - - - OMIM - 613733 - - - Reactome - O00255 - - - SwissProt - O00255 - - - ClinVar - MEN1 - - - - - 11q13 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23321498[PMID] - - AHR interacting HSP90 co-chaperone - AIP - - ARA9 - FKBP16 - XAP2 - aryl hydrocarbon receptor-associated protein 9 - X-associated protein-2 - hepatitis B virus X-associated cellular protein 2 - FKBP37 - FKBP prolyl isomerase 16 - FK506-binding protein 37 - Ah receptor activated 9 - - - gene with protein product - - - - ClinVar - AIP - - - Reactome - O00170 - - - Ensembl - ENSG00000110711 - - - Genatlas - AIP - - - HGNC - 358 - - - OMIM - 605555 - - - SwissProt - O00170 - - - - - 11q13.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 314795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314795 - SHOX-related short stature - - Disease - - - Disorder - - - - 26698168[PMID] - - SHOX homeobox - SHOX - - GCFX - PHOG - SHOXY - SS - SHOX1 - pseudoautosomal homeobox-containing osteogenic gene - - - gene with protein product - - - - ClinVar - SHOX - - - OMIM - 312865 - - - OMIM - 400020 - - - SwissProt - O15266 - - - Ensembl - ENSG00000185960 - - - Genatlas - SHOX - - - HGNC - 10853 - - - - - Xp22.33 and Yp11.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 314718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314718 - Lethal arteriopathy syndrome due to fibulin-4 deficiency - - Disease - - - Disorder - - - - 22943132[PMID] - - EGF containing fibulin extracellular matrix protein 2 - EFEMP2 - - FBLN4 - UPH1 - fibulin 4 - - - gene with protein product - - - - Ensembl - ENSG00000172638 - - - Genatlas - EFEMP2 - - - HGNC - 3219 - - - OMIM - 604633 - - - Reactome - O95967 - - - SwissProt - O95967 - - - ClinVar - EFEMP2 - - - - - 11q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 314721 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314721 - Atypical dentin dysplasia due to SMOC2 deficiency - - Clinical subtype - - - Subtype of disorder - - - - 22152679[PMID] - - SPARC related modular calcium binding 2 - SMOC2 - - SMAP2 - - - gene with protein product - - - - ClinVar - SMOC2 - - - Ensembl - ENSG00000112562 - - - Genatlas - SMOC2 - - - HGNC - 20323 - - - OMIM - 607223 - - - SwissProt - Q9H3U7 - - - - - 6q27 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 370109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370109 - Ataxia-telangiectasia variant - - Disease - - - Disorder - - - - 23946315[PMID] - - ATM serine/threonine kinase - ATM - - TEL1 - TEL1, telomere maintenance 1, homolog (S. cerevisiae) - TELO1 - - - gene with protein product - - - - ClinVar - ATM - - - SwissProt - Q13315 - - - Ensembl - ENSG00000149311 - - - Genatlas - ATM - - - HGNC - 795 - - - IUPHAR - 1934 - - - OMIM - 607585 - - - Reactome - Q13315 - - - - - 11q22.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 370103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370103 - Primary dystonia, DYT17 type - - Disease - - - Disorder - - - - 18688663[PMID] - - dystonia 17 - DYT17 - - - - Disorder-associated locus - - - - Ensembl - - - - OMIM - - - - SwissProt - - - - HGNC - 35416 - - - - - 20p11.22-q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 370097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370097 - Oculocutaneous albinism type 6 - - Disease - - - Disorder - - - - 23364476[PMID] - - solute carrier family 24 member 5 - SLC24A5 - - JSX - OCA6 - oculocutaneous albinism 6 (autosomal recessive) - Na/Ca-K exchanger 5 - NCKX5 - - - gene with protein product - - - - Ensembl - ENSG00000188467 - - - Genatlas - SLC24A5 - - - HGNC - 20611 - - - OMIM - 609802 - - - Reactome - Q71RS6 - - - SwissProt - Q71RS6 - - - IUPHAR - 1049 - - - ClinVar - SLC24A5 - - - - - 15q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 370396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370396 - Small cell carcinoma of the ovary - - Disease - - - Disorder - - - - 24658002[PMID]_24658004[PMID]_24658001[PMID] - - SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 - SMARCA4 - - ATP-dependent helicase SMARCA4 - BAF190 - BRG1 - BRM/SWI2-related gene 1 - FLJ39786 - SNF2 - SNF2-BETA - SNF2-like 4 - SNF2LB - SWI2 - brahma protein-like 1 - global transcription activator homologous sequence - hSNF2b - homeotic gene regulator - mitotic growth and transcription activator - nuclear protein GRB1 - sucrose nonfermenting-like 4 - - - gene with protein product - - - - Ensembl - ENSG00000127616 - - - Genatlas - SMARCA4 - - - HGNC - 11100 - - - IUPHAR - 2740 - - - OMIM - 603254 - - - Reactome - P51532 - - - SwissProt - P51532 - - - ClinVar - SMARCA4 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 370348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370348 - Peripheral primitive neuroectodermal tumor - - Disease - - - Disorder - - - - 7506981[PMID]_8644855[PMID] - - Fli-1 proto-oncogene, ETS transcription factor - FLI1 - - EWSR2 - SIC-1 - FLI-1 - - - gene with protein product - - - - Reactome - Q01543 - - - ClinVar - FLI1 - - - Ensembl - ENSG00000151702 - - - Genatlas - FLI1 - - - HGNC - 3749 - - - OMIM - 193067 - - - SwissProt - Q01543 - - - - - 11q24.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 370334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370334 - Extraskeletal Ewing sarcoma - - Disease - - - Disorder - - - - 11823984[PMID] - - ETS transcription factor ERG - ERG - - TMPRSS2-ERG prostate cancer specific - erg-3 - p55 - transcriptional regulator ERG (transforming protein ERG) - v-ets erythroblastosis virus E26 oncogene like - ETS-related gene - - - gene with protein product - - - - Reactome - P11308 - - - ClinVar - ERG - - - Ensembl - ENSG00000157554 - - - Genatlas - ERG - - - HGNC - 3446 - - - OMIM - 165080 - - - SwissProt - P11308 - - - - - 21q22.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 21113140[PMID] - - EWS RNA binding protein 1 - EWSR1 - - EWS - - - gene with protein product - - - - Reactome - Q01844 - - - Ensembl - ENSG00000182944 - - - Genatlas - EWSR1 - - - HGNC - 3508 - - - OMIM - 133450 - - - SwissProt - Q01844 - - - ClinVar - EWSR1 - - - - - 22q12.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 9072004[PMID]_18769338[PMID]_16517542[PMID]_11570916[PMID] - - Fli-1 proto-oncogene, ETS transcription factor - FLI1 - - EWSR2 - SIC-1 - FLI-1 - - - gene with protein product - - - - Reactome - Q01543 - - - ClinVar - FLI1 - - - Ensembl - ENSG00000151702 - - - Genatlas - FLI1 - - - HGNC - 3749 - - - OMIM - 193067 - - - SwissProt - Q01543 - - - - - 11q24.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 21113140[PMID] - - SNF2 related chromatin remodeling ATPase 5 - SMARCA5 - - ISWI - hISWI - hSNF2H - - - gene with protein product - - - - ClinVar - SMARCA5 - - - Ensembl - ENSG00000153147 - - - Genatlas - SMARCA5 - - - HGNC - 11101 - - - OMIM - 603375 - - - Reactome - O60264 - - - SwissProt - O60264 - - - - - 4q31.21 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 370022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370022 - Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome - - Disease - - - Disorder - - - - 25105227[PMID] - - laminin subunit alpha 1 - LAMA1 - - - - gene with protein product - - - - Ensembl - ENSG00000101680 - - - Genatlas - LAMA1 - - - HGNC - 6481 - - - OMIM - 150320 - - - Reactome - P25391 - - - SwissProt - P25391 - - - ClinVar - LAMA1 - - - - - 18p11.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 370026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370026 - Acute myeloid leukemia with t(8;16)(p11;p13) translocation - - Disease - - - Disorder - - - - 23974201[PMID]_18698081[PMID] - - CREB binding lysine acetyltransferase - CREBBP - - CBP - KAT3A - RTS - - - gene with protein product - - - - Ensembl - ENSG00000005339 - - - Genatlas - CREBBP - - - HGNC - 2348 - - - IUPHAR - 2734 - - - OMIM - 600140 - - - Reactome - Q92793 - - - ClinVar - CREBBP - - - SwissProt - Q92793 - - - - - 16p13.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 23974201[PMID]_18698081[PMID] - - lysine acetyltransferase 6A - KAT6A - - MOZ - Monocytic leukemia zinc finger protein - ZC2HC6A - - - gene with protein product - - - - Ensembl - ENSG00000083168 - - - Genatlas - KAT6A - - - HGNC - 13013 - - - OMIM - 601408 - - - Reactome - Q92794 - - - SwissProt - Q92794 - - - IUPHAR - 2665 - - - ClinVar - KAT6A - - - - - 8p11.21 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 370015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370015 - Spondyloepimetaphyseal dysplasia, Isidor-Toutain type - - Disease - - - Disorder - - - - 31630789[PMID] - - ribosomal protein L13 - RPL13 - - D16S444E - BBC1 - L13 - breast basic conserved 1 - eL13 - - - gene with protein product - - - - Ensembl - ENSG00000167526 - - - HGNC - 10303 - - - OMIM - 113703 - - - SwissProt - P26373 - - - Reactome - P26373 - - - - - 16q24.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 370088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370088 - Acute infantile liver failure-multisystemic involvement syndrome - - Disease - - - Disorder - - - - 22607940[PMID] - - leucyl-tRNA synthetase 1 - LARS1 - - FLJ10595 - FLJ21788 - HSPC192 - LARS1 - LEUS - RNTLS - leucine tRNA ligase 1, cytoplasmic - - - gene with protein product - - - - ClinVar - LARS - - - Ensembl - ENSG00000133706 - - - Genatlas - LARS - - - HGNC - 6512 - - - OMIM - 151350 - - - Reactome - Q9P2J5 - - - SwissProt - Q9P2J5 - - - - - 5q32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 370997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370997 - Muscle-eye-brain disease with bilateral multicystic leucodystrophy - - Disease - - - Disorder - - - - 24052401[PMID] - - dystroglycan 1 - DAG1 - - 156DAG - A3a - AGRNR - DAG - alpha-dystroglycan - beta-dystroglycan - dystrophin-associated glycoprotein-1 - - - gene with protein product - - - - Ensembl - ENSG00000173402 - - - Genatlas - DAG1 - - - HGNC - 2666 - - - OMIM - 128239 - - - Reactome - Q14118 - - - SwissProt - Q14118 - - - ClinVar - DAG1 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 370921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370921 - STT3A-CDG - - Disease - - - Disorder - - - - 23842455[PMID] - - STT3 oligosaccharyltransferase complex catalytic subunit A - STT3A - - MGC9042 - STT3-A - TMC - dolichyl-diphosphooligosaccharide protein glycotransferase - - - gene with protein product - - - - ClinVar - STT3A - - - Ensembl - ENSG00000134910 - - - Genatlas - STT3A - - - HGNC - 6172 - - - OMIM - 601134 - - - Reactome - P46977 - - - SwissProt - P46977 - - - - - 11q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 370924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370924 - STT3B-CDG - - Disease - - - Disorder - - - - 23842455[PMID] - - STT3 oligosaccharyltransferase complex catalytic subunit B - STT3B - - FLJ90106 - SIMP - STT3-B - dolichyl-diphosphooligosaccharide protein glycotransferase - source of immunodominant MHC associated peptides - Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B - - - gene with protein product - - - - ClinVar - STT3B - - - Ensembl - ENSG00000163527 - - - Genatlas - STT3B - - - HGNC - 30611 - - - OMIM - 608605 - - - SwissProt - Q8TCJ2 - - - - - 3p23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 370927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370927 - SSR4-CDG - - Disease - - - Disorder - - - - 24218363[PMID] - - signal sequence receptor subunit 4 - SSR4 - - TRAPD - translocon-associated protein delta - - - gene with protein product - - - - ClinVar - SSR4 - - - Ensembl - ENSG00000180879 - - - Genatlas - SSR4 - - - HGNC - 11326 - - - OMIM - 300090 - - - Reactome - P51571 - - - SwissProt - P51571 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 370930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370930 - XYLT1-CDG - - Disease - - - Disorder - - - - 23982343[PMID] - - xylosyltransferase 1 - XYLT1 - - PXYLT1 - XT-I - protein xylosyltransferase 1 - - - gene with protein product - - - - ClinVar - XYLT1 - - - Ensembl - ENSG00000103489 - - - Genatlas - XYLT1 - - - HGNC - 15516 - - - OMIM - 608124 - - - SwissProt - Q86Y38 - - - Reactome - Q86Y38 - - - - - 16p12.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 370959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370959 - Congenital muscular dystrophy with cerebellar involvement - - Disease - - - Disorder - - - - 21397493[PMID] - - protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) - POMGNT1 - - FLJ20277 - LGMD2O - MGAT1.2 - protein O-mannose beta-1,2-N-acetylglucosaminyltransferase - - - gene with protein product - - - - Reactome - Q8WZA1 - - - Ensembl - ENSG00000085998 - - - Genatlas - POMGNT1 - - - HGNC - 19139 - - - OMIM - 606822 - - - SwissProt - Q8WZA1 - - - ClinVar - POMGNT1 - - - - - 1p34.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21397493[PMID] - - protein O-mannosyltransferase 1 - POMT1 - - LGMD2K - dolichyl-phosphate-mannose-protein mannosyltransferase - - - gene with protein product - - - - Reactome - Q9Y6A1 - - - ClinVar - POMT1 - - - Ensembl - ENSG00000130714 - - - Genatlas - POMT1 - - - HGNC - 9202 - - - OMIM - 607423 - - - SwissProt - Q9Y6A1 - - - - - 9q34.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21397493[PMID] - - protein O-mannosyltransferase 2 - POMT2 - - Dolichyl-phosphate-mannose--protein mannosyltransferase - LGMD2N - - - gene with protein product - - - - Reactome - Q9UKY4 - - - ClinVar - POMT2 - - - Ensembl - ENSG00000009830 - - - Genatlas - POMT2 - - - HGNC - 19743 - - - OMIM - 607439 - - - SwissProt - Q9UKY4 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21397493[PMID] - - fukutin related protein - FKRP - - LGMD2I - MDC1C - Ribitol 5-phosphate transferase - FKTR - - - gene with protein product - - - - ClinVar - FKRP - - - OMIM - 606596 - - - SwissProt - Q9H9S5 - - - Ensembl - ENSG00000181027 - - - Genatlas - FKRP - - - HGNC - 17997 - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24925318[PMID] - - protein O-mannose kinase - POMK - - FLJ23356 - SGK196 - SgK196 - - - gene with protein product - - - - Ensembl - ENSG00000185900 - - - HGNC - 26267 - - - OMIM - 615247 - - - SwissProt - Q9H5K3 - - - Reactome - Q9H5K3 - - - - - 8p11.21 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23768512[PMID]_21397493[PMID] - - GDP-mannose pyrophosphorylase B - GMPPB - - KIAA1851 - mannose-1-phosphate guanyltransferase beta - - - gene with protein product - - - - Ensembl - ENSG00000173540 - - - Genatlas - GMPPB - - - HGNC - 22932 - - - OMIM - 615320 - - - Reactome - Q9Y5P6 - - - SwissProt - Q9Y5P6 - - - ClinVar - GMPPB - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 370968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370968 - Congenital muscular dystrophy with intellectual disability - - Disease - - - Disorder - - - - 21397493[PMID] - - protein O-mannosyltransferase 1 - POMT1 - - LGMD2K - dolichyl-phosphate-mannose-protein mannosyltransferase - - - gene with protein product - - - - Reactome - Q9Y6A1 - - - ClinVar - POMT1 - - - Ensembl - ENSG00000130714 - - - Genatlas - POMT1 - - - HGNC - 9202 - - - OMIM - 607423 - - - SwissProt - Q9Y6A1 - - - - - 9q34.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21397493[PMID] - - protein O-mannosyltransferase 2 - POMT2 - - Dolichyl-phosphate-mannose--protein mannosyltransferase - LGMD2N - - - gene with protein product - - - - Reactome - Q9UKY4 - - - ClinVar - POMT2 - - - Ensembl - ENSG00000009830 - - - Genatlas - POMT2 - - - HGNC - 19743 - - - OMIM - 607439 - - - SwissProt - Q9UKY4 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21397493[PMID] - - fukutin related protein - FKRP - - LGMD2I - MDC1C - Ribitol 5-phosphate transferase - FKTR - - - gene with protein product - - - - ClinVar - FKRP - - - OMIM - 606596 - - - SwissProt - Q9H9S5 - - - Ensembl - ENSG00000181027 - - - Genatlas - FKRP - - - HGNC - 17997 - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21397493[PMID] - - LARGE xylosyl- and glucuronyltransferase 1 - LARGE1 - - like-acetylglucosaminyltransferase - KIAA0609 - - - gene with protein product - - - - Reactome - O95461 - - - ClinVar - LARGE - - - Ensembl - ENSG00000133424 - - - Genatlas - LARGE - - - HGNC - 6511 - - - OMIM - 603590 - - - SwissProt - O95461 - - - - - 22q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23768512[PMID]_21397493[PMID] - - GDP-mannose pyrophosphorylase B - GMPPB - - KIAA1851 - mannose-1-phosphate guanyltransferase beta - - - gene with protein product - - - - Ensembl - ENSG00000173540 - - - Genatlas - GMPPB - - - HGNC - 22932 - - - OMIM - 615320 - - - Reactome - Q9Y5P6 - - - SwissProt - Q9Y5P6 - - - ClinVar - GMPPB - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 370980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370980 - Congenital muscular dystrophy without intellectual disability - - Disease - - - Disorder - - - - 21397493[PMID] - - protein O-mannosyltransferase 1 - POMT1 - - LGMD2K - dolichyl-phosphate-mannose-protein mannosyltransferase - - - gene with protein product - - - - Reactome - Q9Y6A1 - - - ClinVar - POMT1 - - - Ensembl - ENSG00000130714 - - - Genatlas - POMT1 - - - HGNC - 9202 - - - OMIM - 607423 - - - SwissProt - Q9Y6A1 - - - - - 9q34.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21397493[PMID] - - fukutin - FKTN - - LGMD2M - Ribitol-5-phosphate transferase - - - gene with protein product - - - - ClinVar - FKTN - - - Ensembl - ENSG00000106692 - - - Genatlas - FKTN - - - HGNC - 3622 - - - OMIM - 607440 - - - SwissProt - O75072 - - - - - 9q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21397493[PMID] - - fukutin related protein - FKRP - - LGMD2I - MDC1C - Ribitol 5-phosphate transferase - FKTR - - - gene with protein product - - - - ClinVar - FKRP - - - OMIM - 606596 - - - SwissProt - Q9H9S5 - - - Ensembl - ENSG00000181027 - - - Genatlas - FKRP - - - HGNC - 17997 - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23288328[PMID] - - CDP-L-ribitol pyrophosphorylase A - CRPPA - - 4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis) - IspD - Nip - Notch1-induced protein - hCG_1745121 - D-ribitol-5-phosphate cytidylyltransferase - notch1-induced protein - - - gene with protein product - - - - ClinVar - ISPD - - - OMIM - 614631 - - - SwissProt - A4D126 - - - Ensembl - ENSG00000214960 - - - Genatlas - ISPD - - - HGNC - 37276 - - - - - 7p21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 370933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370933 - GM3 synthase deficiency - - Disease - - - Disorder - - - - 24026681[PMID]_15502825[PMID] - - ST3 beta-galactoside alpha-2,3-sialyltransferase 5 - ST3GAL5 - - ST3GalV - SIATGM3S - lactosylceramide alpha-2,3-sialyltransferase - ganglioside GM3 synthase - - - gene with protein product - - - - ClinVar - ST3GAL5 - - - Ensembl - ENSG00000115525 - - - Genatlas - ST3GAL5 - - - HGNC - 10872 - - - OMIM - 604402 - - - Reactome - Q9UNP4 - - - SwissProt - Q9UNP4 - - - - - 2p11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 370943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370943 - Autism spectrum disorder-epilepsy-arthrogryposis syndrome - - Disease - - - Disorder - - - - 24031089[PMID] - - solute carrier family 35 member A3 - SLC35A3 - - UDP-N-acetylglucosamine transporter - - - gene with protein product - - - - IUPHAR - 1140 - - - Ensembl - ENSG00000117620 - - - Genatlas - SLC35A3 - - - HGNC - 11023 - - - OMIM - 605632 - - - Reactome - Q9Y2D2 - - - SwissProt - Q9Y2D2 - - - ClinVar - SLC35A3 - - - - - 1p21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 369929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369929 - Primary hyperaldosteronism-seizures-neurological abnormalities syndrome - - Disease - - - Disorder - - - - 23913001[PMID] - - calcium voltage-gated channel subunit alpha1 D - CACNA1D - - CACH3 - CACN4 - Cav1.3 - - - gene with protein product - - - - Ensembl - ENSG00000157388 - - - Genatlas - CACNA1D - - - HGNC - 1391 - - - IUPHAR - 530 - - - OMIM - 114206 - - - Reactome - Q01668 - - - SwissProt - Q01668 - - - ClinVar - CACNA1D - - - - - 3p21.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 369920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369920 - Pontocerebellar hypoplasia type 9 - - Malformation syndrome - - - Disorder - - - - 23911318[PMID] - - adenosine monophosphate deaminase 2 - AMPD2 - - AMPD isoform L - SPG63 - - - gene with protein product - - - - Ensembl - ENSG00000116337 - - - Genatlas - AMPD2 - - - HGNC - 469 - - - OMIM - 102771 - - - Reactome - Q01433 - - - SwissProt - Q01433 - - - ClinVar - AMPD2 - - - - - 1p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 369942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369942 - CADDS - - Disease - - - Disorder - - - - 11992258[PMID]_22994209[PMID] - - ATP binding cassette subfamily D member 1 - ABCD1 - - ALDP - AMN - adrenoleukodystrophy - - - gene with protein product - - - - IUPHAR - 788 - - - ClinVar - ABCD1 - - - Ensembl - ENSG00000101986 - - - Genatlas - ABCD1 - - - HGNC - 61 - - - OMIM - 300371 - - - Reactome - P33897 - - - SwissProt - P33897 - - - - - Xq28 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 22994209[PMID] - - B cell receptor associated protein 31 - BCAP31 - - 6C6-Ag - BAP31 - CDM - DXS1357E - - - gene with protein product - - - - Ensembl - ENSG00000185825 - - - Genatlas - BCAP31 - - - HGNC - 16695 - - - OMIM - 300398 - - - Reactome - P51572 - - - SwissProt - P51572 - - - ClinVar - BCAP31 - - - - - Xq28 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 369939 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369939 - Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome - - Malformation syndrome - - - Disorder - - - - 24011989[PMID] - - B cell receptor associated protein 31 - BCAP31 - - 6C6-Ag - BAP31 - CDM - DXS1357E - - - gene with protein product - - - - Ensembl - ENSG00000185825 - - - Genatlas - BCAP31 - - - HGNC - 16695 - - - OMIM - 300398 - - - Reactome - P51572 - - - SwissProt - P51572 - - - ClinVar - BCAP31 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 369955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369955 - Methylmalonic acidemia with homocystinuria, type cblJ - - Clinical subtype - - - Subtype of disorder - - - - 22922874[PMID] - - ATP binding cassette subfamily D member 4 - ABCD4 - - Lysosomal cobalamin transporter ABCD4 - EST352188 - P70R - PMP69 - - - gene with protein product - - - - Ensembl - ENSG00000119688 - - - Genatlas - ABCD4 - - - HGNC - 68 - - - OMIM - 603214 - - - Reactome - O14678 - - - SwissProt - O14678 - - - ClinVar - ABCD4 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 369970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369970 - Microcornea-myopic chorioretinal atrophy-telecanthus syndrome - - Disease - - - Disorder - - - - 23818446[PMID] - - ADAM metallopeptidase with thrombospondin type 1 motif 18 - ADAMTS18 - - - - gene with protein product - - - - IUPHAR - 1690 - - - ClinVar - ADAMTS18 - - - Ensembl - ENSG00000140873 - - - Genatlas - ADAMTS18 - - - HGNC - 17110 - - - OMIM - 607512 - - - Reactome - Q8TE60 - - - SwissProt - Q8TE60 - - - - - 16q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 369962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369962 - Methylmalonic acidemia with homocystinuria, type cblX - - Clinical subtype - - - Subtype of disorder - - - - 24011988[PMID] - - host cell factor C1 - HCFC1 - - CFF - HCF-1 - HCF1 - MGC70925 - PPP1R89 - VCAF - VP16-accessory protein - protein phosphatase 1, regulatory subunit 89 - - - gene with protein product - - - - Ensembl - ENSG00000172534 - - - Genatlas - HCFC1 - - - HGNC - 4839 - - - OMIM - 300019 - - - Reactome - P51610 - - - SwissProt - P51610 - - - ClinVar - HCFC1 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 369992 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369992 - Severe dermatitis-multiple allergies-metabolic wasting syndrome - - Disease - - - Disorder - - - - 26073755[PMID] - - desmoplakin - DSP - - DPI - DPII - KPPS2 - PPKS2 - - - gene with protein product - - - - ClinVar - DSP - - - Ensembl - ENSG00000096696 - - - Genatlas - DSP - - - HGNC - 3052 - - - OMIM - 125647 - - - Reactome - P15924 - - - SwissProt - P15924 - - - - - 6p24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23974871[PMID] - - desmoglein 1 - DSG1 - - CDHF4 - - - gene with protein product - - - - ClinVar - DSG1 - - - Ensembl - ENSG00000134760 - - - Genatlas - DSG1 - - - HGNC - 3048 - - - OMIM - 125670 - - - Reactome - Q02413 - - - SwissProt - Q02413 - - - - - 18q12.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 370002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370002 - Focal palmoplantar keratoderma with joint keratoses - - Disease - - - Disorder - - - - 16484817[PMID] - - desmoglein 1 - DSG1 - - CDHF4 - - - gene with protein product - - - - ClinVar - DSG1 - - - Ensembl - ENSG00000134760 - - - Genatlas - DSG1 - - - HGNC - 3048 - - - OMIM - 125670 - - - Reactome - Q02413 - - - SwissProt - Q02413 - - - - - 18q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 369999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369999 - Diffuse palmoplantar keratoderma with painful fissures - - Disease - - - Disorder - - - - 15897387[PMID] - - desmoglein 1 - DSG1 - - CDHF4 - - - gene with protein product - - - - ClinVar - DSG1 - - - Ensembl - ENSG00000134760 - - - Genatlas - DSG1 - - - HGNC - 3048 - - - OMIM - 125670 - - - Reactome - Q02413 - - - SwissProt - Q02413 - - - - - 18q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 369837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369837 - Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome - - Malformation syndrome - - - Disorder - - - - 23636107[PMID] - - phosphatidylinositol glycan anchor biosynthesis class T - PIGT - - GPI transamidase subunit - PIG-T - GPI transamidase component PIG-T - - - gene with protein product - - - - Ensembl - ENSG00000124155 - - - Genatlas - PIGT - - - HGNC - 14938 - - - OMIM - 610272 - - - Reactome - Q969N2 - - - SwissProt - Q969N2 - - - ClinVar - PIGT - - - - - 20q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 369840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369840 - TRAPPC11-related limb-girdle muscular dystrophy R18 - - Disease - - - Disorder - - - - 23830518[PMID] - - trafficking protein particle complex subunit 11 - TRAPPC11 - - FLJ12716 - foie gras homolog (zebrafish) - foigr - gry - gryzun homolog (Drosophila) - - - gene with protein product - - - - ClinVar - TRAPPC11 - - - Ensembl - ENSG00000168538 - - - Genatlas - TRAPPC11 - - - HGNC - 25751 - - - OMIM - 614138 - - - SwissProt - Q7Z392 - - - Reactome - Q7Z392 - - - - - 4q35.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 369847 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369847 - Intellectual disability-hyperkinetic movement-truncal ataxia syndrome - - Disease - - - Disorder - - - - 23830518[PMID] - - trafficking protein particle complex subunit 11 - TRAPPC11 - - FLJ12716 - foie gras homolog (zebrafish) - foigr - gry - gryzun homolog (Drosophila) - - - gene with protein product - - - - ClinVar - TRAPPC11 - - - Ensembl - ENSG00000168538 - - - Genatlas - TRAPPC11 - - - HGNC - 25751 - - - OMIM - 614138 - - - SwissProt - Q7Z392 - - - Reactome - Q7Z392 - - - - - 4q35.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 369852 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369852 - Congenital neutropenia-myelofibrosis-nephromegaly syndrome - - Disease - - - Disorder - - - - 23738510[PMID] - - vacuolar protein sorting 45 homolog - VPS45 - - H1 - h-vps45 - - - gene with protein product - - - - ClinVar - VPS45 - - - Ensembl - ENSG00000136631 - - - Genatlas - VPS45 - - - HGNC - 14579 - - - OMIM - 610035 - - - Reactome - Q9NRW7 - - - SwissProt - Q9NRW7 - - - - - 1q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 369861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369861 - Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome - - Disease - - - Disorder - - - - 25193871[PMID] - - tRNA nucleotidyl transferase 1 - TRNT1 - - CCA1 - CGI-47 - MtCCA - CCA-adding enzyme - ATP(CTP):tRNA nucleotidyltransferase - - - gene with protein product - - - - Ensembl - ENSG00000072756 - - - Genatlas - TRNT1 - - - HGNC - 17341 - - - OMIM - 612907 - - - Reactome - Q96Q11 - - - SwissProt - Q96Q11 - - - ClinVar - TRNT1 - - - - - 3p26.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 369867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369867 - Autosomal recessive intermediate Charcot-Marie-Tooth disease type C - - Disease - - - Disorder - - - - 23844677[PMID]_23777631[PMID] - - pleckstrin homology and RhoGEF domain containing G5 - PLEKHG5 - - GEF720 - KIAA0720 - Syx - Tech - synectin-binding guanine exchange factor - ARHGEF45 - - - gene with protein product - - - - Ensembl - ENSG00000171680 - - - Genatlas - PLEKHG5 - - - HGNC - 29105 - - - ClinVar - PLEKHG5 - - - OMIM - 611101 - - - Reactome - O94827 - - - SwissProt - O94827 - - - - - 1p36.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 369873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369873 - Obesity due to SIM1 deficiency - - Etiological subtype - - - Subtype of disorder - - - - 23778136[PMID]_23778139[PMID] - - SIM bHLH transcription factor 1 - SIM1 - - bHLHe14 - - - gene with protein product - - - - ClinVar - SIM1 - - - Ensembl - ENSG00000112246 - - - Genatlas - SIM1 - - - HGNC - 10882 - - - OMIM - 603128 - - - SwissProt - P81133 - - - - - 6q16.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 369881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369881 - 2p21 microdeletion syndrome without cystinuria - - Malformation syndrome - - - Disorder - - - - 23794250[PMID] - - prolyl endopeptidase like - PREPL - - KIAA0436 - - - gene with protein product - - - - IUPHAR - 2870 - - - ClinVar - PREPL - - - Ensembl - ENSG00000138078 - - - Genatlas - PREPL - - - HGNC - 30228 - - - OMIM - 609557 - - - SwissProt - Q4J6C6 - - - - - 2p21 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 23794250[PMID] - - calmodulin-lysine N-methyltransferase - CAMKMT - - CLNMT - CaM KMT - - - gene with protein product - - - - Ensembl - ENSG00000143919 - - - Genatlas - C2orf34 - - - HGNC - 26276 - - - OMIM - 609559 - - - Reactome - Q7Z624 - - - SwissProt - Q7Z624 - - - ClinVar - C2orf34 - - - - - 2p21 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 369891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369891 - Developmental delay-facial dysmorphism syndrome due to MED13L deficiency - - Malformation syndrome - - - Disorder - - - - 23403903[PMID]_25712080[PMID] - - mediator complex subunit 13L - MED13L - - KIAA1025 - TRAP240L - - - gene with protein product - - - - ClinVar - MED13L - - - Ensembl - ENSG00000123066 - - - Genatlas - MED13L - - - HGNC - 22962 - - - OMIM - 608771 - - - Reactome - Q71F56 - - - SwissProt - Q71F56 - - - - - 12q24.21 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 369897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369897 - Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies - - Disease - - - Disorder - - - - 23993193[PMID]_23993194[PMID] - - F-box and leucine rich repeat protein 4 - FBXL4 - - FBL4 - FBL5 - - - gene with protein product - - - - Reactome - Q9UKA2 - - - ClinVar - FBXL4 - - - Ensembl - ENSG00000112234 - - - Genatlas - FBXL4 - - - HGNC - 13601 - - - OMIM - 605654 - - - SwissProt - Q9UKA2 - - - - - 6q16.1-q16.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 369913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369913 - Combined oxidative phosphorylation defect type 17 - - Disease - - - Disorder - - - - 23849775[PMID] - - elaC ribonuclease Z 2 - ELAC2 - - FLJ10530 - HPC2 - tRNase Z (long form) - - - gene with protein product - - - - ClinVar - ELAC2 - - - Reactome - Q9BQ52 - - - SwissProt - Q9BQ52 - - - Ensembl - ENSG00000006744 - - - Genatlas - ELAC2 - - - HGNC - 14198 - - - OMIM - 605367 - - - - - 17p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 364063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364063 - Infantile epileptic-dyskinetic encephalopathy - - Disease - - - Disorder - - - - 17664401[PMID] - - aristaless related homeobox - ARX - - CT121 - EIEE1 - ISSX - cancer/testis antigen 121 - - - gene with protein product - - - - ClinVar - ARX - - - SwissProt - Q96QS3 - - - Ensembl - ENSG00000004848 - - - Genatlas - ARX - - - HGNC - 18060 - - - OMIM - 300382 - - - - - Xp21.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 364055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364055 - Severe early-childhood-onset retinal dystrophy - - Disease - - - Disorder - - - - - - retinoid isomerohydrolase RPE65 - RPE65 - - BCO family, member 3 - BCO3 - LCA2 - all-trans-retinyl-palmitate hydrolase - rd12 - retinol isomerase - - - gene with protein product - - - - Ensembl - ENSG00000116745 - - - Genatlas - RPE65 - - - HGNC - 10294 - - - OMIM - 180069 - - - Reactome - Q16518 - - - SwissProt - Q16518 - - - ClinVar - RPE65 - - - - - 1p31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23946133[PMID] - - lebercilin LCA5 - LCA5 - - - - gene with protein product - - - - Reactome - Q86VQ0 - - - ClinVar - LCA5 - - - SwissProt - Q86VQ0 - - - Ensembl - ENSG00000135338 - - - Genatlas - LCA5 - - - HGNC - 31923 - - - OMIM - 611408 - - - - - 6q14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22570351[PMID] - - lecithin retinol acyltransferase - LRAT - - LCA14 - phosphatidylcholine--retinol O-acyltransferase - - - gene with protein product - - - - ClinVar - LRAT - - - Ensembl - ENSG00000121207 - - - Genatlas - LRAT - - - HGNC - 6685 - - - OMIM - 604863 - - - Reactome - O95237 - - - SwissProt - O95237 - - - - - 4q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21310915[PMID] - - spermatogenesis associated 7 - SPATA7 - - HSD3 - - - gene with protein product - - - - Ensembl - ENSG00000042317 - - - Genatlas - SPATA7 - - - HGNC - 20423 - - - OMIM - 609868 - - - SwissProt - Q9P0W8 - - - ClinVar - SPATA7 - - - - - 14q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 364043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364043 - ALK-positive large B-cell lymphoma - - Disease - - - Disorder - - - - - - ALK receptor tyrosine kinase - ALK - - ALK1 - CD246 - - - gene with protein product - - - - Reactome - Q9UM73 - - - ClinVar - ALK - - - Ensembl - ENSG00000171094 - - - Genatlas - ALK - - - HGNC - 427 - - - IUPHAR - 1839 - - - OMIM - 105590 - - - SwissProt - Q9UM73 - - - - - 2p23.2-p23.1 - 1 - - - - - Part of a fusion gene in - - - Not yet assessed - - - - - - 364028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364028 - X-linked intellectual disability due to GRIA3 mutations - - Disease - - - Disorder - - - - 17989220[PMID] - - glutamate ionotropic receptor AMPA type subunit 3 - GRIA3 - - Glutamate receptor 3 - GLURC - GluA3 - MRX94 - GluR-3 - GluR-K3 - GluR-C - iGluR3 - AMPA receptor subunit GluA3 - - - gene with protein product - - - - ClinVar - GRIA3 - - - Ensembl - ENSG00000125675 - - - Genatlas - GRIA3 - - - HGNC - 4573 - - - IUPHAR - 446 - - - OMIM - 305915 - - - Reactome - P42263 - - - SwissProt - P42263 - - - - - Xq25 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772 - Infantile Refsum disease - - Disease - - - Disorder - - - - - - peroxisomal biogenesis factor 2 - PEX2 - - PAF-1 - PMP35 - RNF72 - ZWS3 - Zellweger syndrome - peroxin 2 - - - gene with protein product - - - - ClinVar - PEX2 - - - ClinVar - - - - Reactome - P28328 - - - Ensembl - ENSG00000164751 - - - Genatlas - PXMP3 - - - HGNC - 9717 - - - OMIM - 170993 - - - SwissProt - P28328 - - - - - 8q21.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - peroxisomal biogenesis factor 1 - PEX1 - - - - gene with protein product - - - - Ensembl - ENSG00000127980 - - - Genatlas - PEX1 - - - HGNC - 8850 - - - OMIM - 602136 - - - SwissProt - O43933 - - - ClinVar - PEX1 - - - - - 7q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - peroxisomal biogenesis factor 10 - PEX10 - - RNF69 - - - gene with protein product - - - - Reactome - O60683 - - - Ensembl - ENSG00000157911 - - - Genatlas - PEX10 - - - HGNC - 8851 - - - OMIM - 602859 - - - SwissProt - O60683 - - - ClinVar - PEX10 - - - - - 1p36.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - peroxisomal biogenesis factor 12 - PEX12 - - - - gene with protein product - - - - Reactome - O00623 - - - ClinVar - PEX12 - - - Ensembl - ENSG00000108733 - - - Genatlas - PEX12 - - - HGNC - 8854 - - - OMIM - 601758 - - - SwissProt - O00623 - - - - - 17q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - peroxisomal biogenesis factor 13 - PEX13 - - - - gene with protein product - - - - OMIM - 601789 - - - SwissProt - Q92968 - - - Reactome - Q92968 - - - Ensembl - ENSG00000162928 - - - Genatlas - PEX13 - - - HGNC - 8855 - - - ClinVar - PEX13 - - - - - 2p15 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - peroxisomal biogenesis factor 14 - PEX14 - - - - gene with protein product - - - - Ensembl - ENSG00000142655 - - - Genatlas - PEX14 - - - HGNC - 8856 - - - OMIM - 601791 - - - SwissProt - O75381 - - - Reactome - O75381 - - - ClinVar - PEX14 - - - - - 1p36.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - peroxisomal biogenesis factor 16 - PEX16 - - - - gene with protein product - - - - Ensembl - ENSG00000121680 - - - Genatlas - PEX16 - - - HGNC - 8857 - - - OMIM - 603360 - - - SwissProt - Q9Y5Y5 - - - ClinVar - PEX16 - - - Reactome - Q9Y5Y5 - - - - - 11p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - peroxisomal biogenesis factor 19 - PEX19 - - D1S2223E - HK33 - PMP1 - PMPI - PXMP1 - housekeeping gene, 33kD - - - gene with protein product - - - - Ensembl - ENSG00000162735 - - - Genatlas - PEX19 - - - HGNC - 9713 - - - OMIM - 600279 - - - Reactome - P40855 - - - SwissProt - P40855 - - - ClinVar - PEX19 - - - - - 1q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - peroxisomal biogenesis factor 26 - PEX26 - - FLJ20695 - - - gene with protein product - - - - Reactome - Q7Z412 - - - HGNC - 22965 - - - OMIM - 608666 - - - SwissProt - Q7Z412 - - - Ensembl - ENSG00000215193 - - - Genatlas - PEX26 - - - ClinVar - PEX26 - - - - - 22q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - peroxisomal biogenesis factor 3 - PEX3 - - - - gene with protein product - - - - Ensembl - ENSG00000034693 - - - Genatlas - PEX3 - - - HGNC - 8858 - - - OMIM - 603164 - - - Reactome - P56589 - - - SwissProt - P56589 - - - ClinVar - PEX3 - - - - - 6q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - peroxisomal biogenesis factor 5 - PEX5 - - peroxisomal import receptor 5 - peroxisomal targeting signal 1 receptor - PTS1R - - - gene with protein product - - - - Reactome - P50542 - - - Ensembl - ENSG00000139197 - - - Genatlas - PEX5 - - - HGNC - 9719 - - - OMIM - 600414 - - - SwissProt - P50542 - - - ClinVar - PEX5 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - peroxisomal biogenesis factor 6 - PEX6 - - PAF-2 - PXAAA1 - - - gene with protein product - - - - Ensembl - ENSG00000124587 - - - Genatlas - PEX6 - - - HGNC - 8859 - - - OMIM - 601498 - - - SwissProt - Q13608 - - - ClinVar - PEX6 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - peroxisomal biogenesis factor 11 beta - PEX11B - - PEX11ß - Peroxisomal membrane protein 11B - PEX11beta - - - gene with protein product - - - - Reactome - O96011 - - - Ensembl - ENSG00000131779 - - - Genatlas - PEX11B - - - HGNC - 8853 - - - OMIM - 603867 - - - SwissProt - O96011 - - - ClinVar - PEX11B - - - - - 1q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1194 - TMEM70-related mitochondrial encephalo-cardio-myopathy - - Disease - - - Disorder - - - - 21147908[PMID] - - transmembrane protein 70 - TMEM70 - - FLJ20533 - MC5DN2 - mitochondrial complex V deficiency, nuclear type 1 - - - gene with protein product - - - - ClinVar - TMEM70 - - - Ensembl - ENSG00000175606 - - - Genatlas - TMEM70 - - - HGNC - 26050 - - - OMIM - 612418 - - - SwissProt - Q9BUB7 - - - - - 8q21.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 363999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363999 - Non-immune hydrops fetalis - - Clinical subtype - - - Subtype of disorder - - - - 34876502[PMID] - - angiopoietin 2 - ANGPT2 - - Ang2 - - - gene with protein product - - - - HGNC - 485 - - - Ensembl - ENSG00000091879 - - - SwissProt - O15123 - - - Reactome - O15123 - - - IUPHAR - 5316 - - - OMIM - 601922 - - - - - 8p23.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 30055085[PMID] - - thrombospondin type 1 domain containing 1 - THSD1 - - TMTSP - - - gene with protein product - - - - HGNC - 17754 - - - Ensembl - ENSG00000136114 - - - SwissProt - Q9NS62 - - - Reactome - Q9NS62 - - - OMIM - 616821 - - - - - 13q14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30115739[PMID] - - calcitonin receptor like receptor - CALCRL - - CGRPR - CRLR - - - gene with protein product - - - - HGNC - 16709 - - - Ensembl - ENSG00000064989 - - - OMIM - 114190 - - - IUPHAR - 47 - - - SwissProt - Q16602 - - - - - 2q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 363989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363989 - Familial benign flecked retina - - Disease - - - Disorder - - - - 22137173[PMID] - - phospholipase A2 group V - PLA2G5 - - - - gene with protein product - - - - Reactome - P39877 - - - SwissProt - P39877 - - - Ensembl - ENSG00000127472 - - - Genatlas - PLA2G5 - - - HGNC - 9038 - - - OMIM - 601192 - - - IUPHAR - 1430 - - - ClinVar - PLA2G5 - - - - - 1p36.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 363992 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363992 - Ichthyosis-short stature-brachydactyly-microspherophakia syndrome - - Disease - - - Disorder - - - - 23754960[PMID] - - ADAM metallopeptidase with thrombospondin type 1 motif 17 - ADAMTS17 - - FLJ16363 - FLJ32769 - - - gene with protein product - - - - IUPHAR - 1689 - - - Ensembl - ENSG00000140470 - - - Genatlas - ADAMTS17 - - - HGNC - 17109 - - - OMIM - 607511 - - - Reactome - Q8TE56 - - - SwissProt - Q8TE56 - - - ClinVar - ADAMTS17 - - - - - 15q26.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 23754960[PMID] - - ceramide synthase 3 - CERS3 - - MGC27091 - - - gene with protein product - - - - HGNC - 23752 - - - OMIM - 615276 - - - Reactome - Q8IU89 - - - SwissProt - Q8IU89 - - - ClinVar - CERS3 - - - Ensembl - ENSG00000154227 - - - Genatlas - CERS3 - - - IUPHAR - 2476 - - - - - 15q26.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 363981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363981 - Charcot-Marie-Tooth disease type 4B3 - - Disease - - - Disorder - - - - 23749797[PMID] - - SET binding factor 1 - SBF1 - - DENN/MADD domain containing 7A - DENND7A - MTMR5 - myotubularin related 5 - - - gene with protein product - - - - Reactome - O95248 - - - Ensembl - ENSG00000100241 - - - Genatlas - SBF1 - - - HGNC - 10542 - - - OMIM - 603560 - - - SwissProt - O95248 - - - ClinVar - SBF1 - - - - - 22q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 363969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363969 - Autosomal recessive cerebral atrophy - - Disease - - - Disorder - - - - 23957953[PMID] - - transmembrane serine protease 4 - TMPRSS4 - - MT-SP2 - Membrane-type serine protease 2 - TMPRSS3 - Transmembrane serine protease 3 - Type II membrane serine protease - CAP2 - channel-activating serine protease 2 - type II membrane serine protease - membrane-type serine protease 2 - transmembrane serine protease 3 - - - gene with protein product - - - - Ensembl - ENSG00000137648 - - - Genatlas - TMPRSS4 - - - HGNC - 11878 - - - OMIM - 606565 - - - SwissProt - Q9NRS4 - - - ClinVar - TMPRSS4 - - - Reactome - Q9NRS4 - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 363972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363972 - Noonan syndrome-like disorder with juvenile myelomonocytic leukemia - - Malformation syndrome - - - Disorder - - - - 20543203[PMID]_20619386[PMID] - - Cbl proto-oncogene - CBL - - RNF55 - c-Cbl - oncogene CBL2 - - - gene with protein product - - - - Ensembl - ENSG00000110395 - - - Genatlas - CBL - - - HGNC - 1541 - - - OMIM - 165360 - - - Reactome - P22681 - - - SwissProt - P22681 - - - ClinVar - CBL - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 363965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363965 - Koolen-De Vries syndrome due to a point mutation - - Etiological subtype - - - Subtype of disorder - - - - 22544363[PMID]_22544367[PMID]_20301783[PMID] - - KAT8 regulatory NSL complex subunit 1 - KANSL1 - - CENP-36 - Centromere protein 36 - DKFZP727C091 - MSL1v1 - NSL1 - centromere protein 36 - - - gene with protein product - - - - OMIM - 612452 - - - Reactome - Q7Z3B3 - - - SwissProt - Q7Z3B3 - - - ClinVar - KANSL1 - - - Ensembl - ENSG00000120071 - - - Genatlas - KANSL1 - - - HGNC - 24565 - - - - - 17q21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 363958 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363958 - 17q21.31 microdeletion syndrome - - Etiological subtype - - - Subtype of disorder - - - - 19447831[PMID] - - KAT8 regulatory NSL complex subunit 1 - KANSL1 - - CENP-36 - Centromere protein 36 - DKFZP727C091 - MSL1v1 - NSL1 - centromere protein 36 - - - gene with protein product - - - - OMIM - 612452 - - - Reactome - Q7Z3B3 - - - SwissProt - Q7Z3B3 - - - ClinVar - KANSL1 - - - Ensembl - ENSG00000120071 - - - Genatlas - KANSL1 - - - HGNC - 24565 - - - - - 17q21.31 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 363727 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363727 - X-linked dyserythropoietic anemia with abnormal platelets and neutropenia - - Disease - - - Disorder - - - - 16783379[PMID] - - GATA binding protein 1 - GATA1 - - ERYF1 - GATA-1 - NF-E1 - NFE1 - nuclear factor, erythroid 1 - - - gene with protein product - - - - ClinVar - GATA1 - - - Ensembl - ENSG00000102145 - - - Genatlas - GATA1 - - - HGNC - 4170 - - - OMIM - 305371 - - - Reactome - P15976 - - - SwissProt - P15976 - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 363722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363722 - Alexander disease type II - - Clinical subtype - - - Subtype of disorder - - - - 20301351[PMID] - - glial fibrillary acidic protein - GFAP - - FLJ45472 - intermediate filament protein - - - gene with protein product - - - - ClinVar - GFAP - - - Ensembl - ENSG00000131095 - - - Genatlas - GFAP - - - HGNC - 4235 - - - OMIM - 137780 - - - Reactome - P14136 - - - SwissProt - P14136 - - - - - 17q21.31 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 363717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363717 - Alexander disease type I - - Clinical subtype - - - Subtype of disorder - - - - 20301351[PMID] - - glial fibrillary acidic protein - GFAP - - FLJ45472 - intermediate filament protein - - - gene with protein product - - - - ClinVar - GFAP - - - Ensembl - ENSG00000131095 - - - Genatlas - GFAP - - - HGNC - 4235 - - - OMIM - 137780 - - - Reactome - P14136 - - - SwissProt - P14136 - - - - - 17q21.31 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 363710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363710 - Spinocerebellar ataxia type 37 - - Disease - - - Disorder - - - - 28686858[PMID] - - DAB adaptor protein 1 - DAB1 - - yotari - - - gene with protein product - - - - ClinVar - DAB1 - - - HGNC - 2661 - - - Ensembl - ENSG00000173406 - - - SwissProt - O75553 - - - OMIM - 603448 - - - Genatlas - DAB1 - - - Reactome - O75553 - - - - - 1p32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23700170[PMID] - - spinocerebellar ataxia 37 - SCA37 - - - - Disorder-associated locus - - - - HGNC - 43726 - - - Ensembl - - - - OMIM - - - - SwissProt - - - - - - 1p32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 363700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700 - Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion - - Etiological subtype - - - Subtype of disorder - - - - 20301288[PMID] - - neurofibromin 1 - NF1 - - Watson disease - neurofibromatosis - von Recklinghausen disease - - - gene with protein product - - - - Ensembl - ENSG00000196712 - - - Genatlas - NF1 - - - HGNC - 7765 - - - OMIM - 613113 - - - ClinVar - NF1 - - - Reactome - P21359 - - - SwissProt - P21359 - - - - - 17q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 363694 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363694 - Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome - - Disease - - - Disorder - - - - 21255763[PMID] - - seryl-tRNA synthetase 2, mitochondrial - SARS2 - - FLJ20450 - SARS - SERS - SYS - SerRSmt - mtSerRS - serine tRNA ligase 2, mitochondrial - - - gene with protein product - - - - Ensembl - ENSG00000104835 - - - Genatlas - SARS2 - - - HGNC - 17697 - - - OMIM - 612804 - - - Reactome - Q9NP81 - - - SwissProt - Q9NP81 - - - ClinVar - SARS2 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 363686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363686 - Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome - - Disease - - - Disorder - - - - 23644463[PMID] - - GATA zinc finger domain containing 2B - GATAD2B - - P66beta - Transcription repressor p66 beta component of the MeCP1 complex - transcription repressor p66 beta component of the MeCP1 complex - - - gene with protein product - - - - Ensembl - ENSG00000143614 - - - Genatlas - GATAD2B - - - HGNC - 30778 - - - OMIM - 614998 - - - Reactome - Q8WXI9 - - - SwissProt - Q8WXI9 - - - ClinVar - GATAD2B - - - - - 1q21.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 363677 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363677 - Childhood-onset autosomal recessive myopathy with external ophthalmoplegia - - Disease - - - Disorder - - - - 23388406[PMID] - - myosin heavy chain 2 - MYH2 - - MYH2A - MYHSA2 - MYHas8 - MyHC-2A - MyHC-IIa - - - gene with protein product - - - - ClinVar - MYH2 - - - Ensembl - ENSG00000125414 - - - Genatlas - MYH2 - - - HGNC - 7572 - - - OMIM - 160740 - - - Reactome - Q9UKX2 - - - SwissProt - Q9UKX2 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 363417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417 - Temtamy preaxial brachydactyly syndrome - - Malformation syndrome - - - Disorder - - - - 21129728[PMID] - - chondroitin sulfate synthase 1 - CHSY1 - - CSS1 - KIAA0990 - - - gene with protein product - - - - Ensembl - ENSG00000131873 - - - Genatlas - CHSY1 - - - HGNC - 17198 - - - OMIM - 608183 - - - Reactome - Q86X52 - - - SwissProt - Q86X52 - - - ClinVar - CHSY1 - - - - - 15q26.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 363409 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363409 - Fetal akinesia-cerebral and retinal hemorrhage syndrome - - Disease - - - Disorder - - - - 23092955[PMID] - - dynamin 2 - DNM2 - - CMT2M - CMTDI1 - CMTDIB - DI-CMTB - DYN2 - DYNII - cytoskeletal protein - dynamin II - - - gene with protein product - - - - ClinVar - DNM2 - - - Ensembl - ENSG00000079805 - - - Genatlas - DNM2 - - - HGNC - 2974 - - - OMIM - 602378 - - - Reactome - P50570 - - - SwissProt - P50570 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 363412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363412 - Hypomyelination with brain stem and spinal cord involvement and leg spasticity - - Disease - - - Disorder - - - - 23643384[PMID] - - aspartyl-tRNA synthetase 1 - DARS1 - - aspartate tRNA ligase 1, cytoplasmic - - - gene with protein product - - - - Ensembl - ENSG00000115866 - - - Genatlas - DARS - - - HGNC - 2678 - - - OMIM - 603084 - - - Reactome - P14868 - - - SwissProt - P14868 - - - ClinVar - DARS - - - - - 2q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 363432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363432 - Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency - - Clinical subtype - - - Subtype of disorder - - - - 23611888[PMID] - - glutamate ionotropic receptor delta type subunit 2 - GRID2 - - GluD2 - GluR-delta-2 - - - gene with protein product - - - - Ensembl - ENSG00000152208 - - - Genatlas - GRID2 - - - HGNC - 4576 - - - IUPHAR - 449 - - - OMIM - 602368 - - - SwissProt - O43424 - - - ClinVar - GRID2 - - - - - 4q22.1-q22.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 363424 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363424 - Multiple mitochondrial dysfunctions syndrome type 3 - - Disease - - - Disorder - - - - 23462291[PMID] - - iron-sulfur cluster assembly factor IBA57 - IBA57 - - FLJ12734 - iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa - - - gene with protein product - - - - Ensembl - ENSG00000181873 - - - Genatlas - IBA57 - - - HGNC - 27302 - - - OMIM - 615316 - - - SwissProt - Q5T440 - - - ClinVar - IBA57 - - - - - 1q42.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 363396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363396 - High myopia-sensorineural deafness syndrome - - Disease - - - Disorder - - - - 23543054[PMID] - - SLIT and NTRK like family member 6 - SLITRK6 - - FLJ22774 - - - gene with protein product - - - - Reactome - Q9H5Y7 - - - ClinVar - SLITRK6 - - - Ensembl - ENSG00000184564 - - - Genatlas - SLITRK6 - - - HGNC - 23503 - - - OMIM - 609681 - - - SwissProt - Q9H5Y7 - - - - - 13q31.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 363400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363400 - Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome - - Disease - - - Disorder - - - - 23564749[PMID] - - BSCL2 lipid droplet biogenesis associated, seipin - BSCL2 - - seipin - - - gene with protein product - - - - Ensembl - ENSG00000168000 - - - Genatlas - BSCL2 - - - HGNC - 15832 - - - OMIM - 606158 - - - SwissProt - Q96G97 - - - ClinVar - BSCL2 - - - - - 11q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 363618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363618 - LMNA-related cardiocutaneous progeria syndrome - - Disease - - - Disorder - - - - 23666920[PMID] - - lamin A/C - LMNA - - HGPS - MADA - mandibuloacral dysplasia type A - progerin - - - gene with protein product - - - - ClinVar - LMNA - - - Ensembl - ENSG00000160789 - - - Genatlas - LMNA - - - HGNC - 6636 - - - OMIM - 150330 - - - Reactome - P02545 - - - SwissProt - P02545 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 363623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363623 - GMPPB-related limb-girdle muscular dystrophy R19 - - Disease - - - Disorder - - - - 23768512[PMID] - - GDP-mannose pyrophosphorylase B - GMPPB - - KIAA1851 - mannose-1-phosphate guanyltransferase beta - - - gene with protein product - - - - Ensembl - ENSG00000173540 - - - Genatlas - GMPPB - - - HGNC - 22932 - - - OMIM - 615320 - - - Reactome - Q9Y5P6 - - - SwissProt - Q9Y5P6 - - - ClinVar - GMPPB - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 363649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363649 - Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome - - Disease - - - Disorder - - - - 23770608[PMID] - - DNA polymerase delta 1, catalytic subunit - POLD1 - - CDC2 - CDC2 homolog (S. cerevisiae) - - - gene with protein product - - - - Ensembl - ENSG00000062822 - - - Genatlas - POLD1 - - - HGNC - 9175 - - - OMIM - 174761 - - - Reactome - P28340 - - - SwissProt - P28340 - - - ClinVar - POLD1 - - - - - 19q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 363654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363654 - X-linked parkinsonism-spasticity syndrome - - Disease - - - Disorder - - - - 23595882[PMID] - - ATPase H+ transporting accessory protein 2 - ATP6AP2 - - APT6M8-9 - ATP6M8-9 - M8-9 - PRR - RENR - prorenin receptor - renin receptor - (P)RR - V-ATPase M8.9 subunit - - - gene with protein product - - - - Ensembl - ENSG00000182220 - - - Genatlas - ATP6AP2 - - - HGNC - 18305 - - - OMIM - 300556 - - - Reactome - O75787 - - - SwissProt - O75787 - - - ClinVar - ATP6AP2 - - - - - Xp11.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 363665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363665 - Acroosteolysis-keloid-like lesions-premature aging syndrome - - Disease - - - Disorder - - - - 26279204[PMID] - - platelet derived growth factor receptor beta - PDGFRB - - CD140b - JTK12 - PDGFR1 - - - gene with protein product - - - - ClinVar - PDGFRB - - - Ensembl - ENSG00000113721 - - - Genatlas - PDGFRB - - - HGNC - 8804 - - - IUPHAR - 1804 - - - OMIM - 173410 - - - Reactome - P09619 - - - SwissProt - P09619 - - - - - 5q32 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 363540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363540 - Leukoencephalopathy with mild cerebellar ataxia and white matter edema - - Disease - - - Disorder - - - - 23707145[PMID] - - chloride voltage-gated channel 2 - CLCN2 - - CLC2 - ClC-2 - EJM6 - - - gene with protein product - - - - Ensembl - ENSG00000114859 - - - Genatlas - CLCN2 - - - HGNC - 2020 - - - IUPHAR - 699 - - - OMIM - 600570 - - - Reactome - P51788 - - - SwissProt - P51788 - - - ClinVar - CLCN2 - - - - - 3q27.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 363549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363549 - Acute encephalopathy with biphasic seizures and late reduced diffusion - - Disease - - - Disorder - - - - 23535492[PMID] - - adenosine A2a receptor - ADORA2A - - RDC8 - - - gene with protein product - - - - Ensembl - ENSG00000128271 - - - Genatlas - ADORA2A - - - HGNC - 263 - - - IUPHAR - 19 - - - OMIM - 102776 - - - Reactome - P29274 - - - SwissProt - P29274 - - - ClinVar - ADORA2A - - - - - 22q11.23 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 363611 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363611 - CTCF-related neurodevelopmental disorder - - Disease - - - Disorder - - - - 23746550[PMID] - - CCCTC-binding factor - CTCF - - 11 zinc finger transcriptional repressor - CFAP108 - FAP108 - - - gene with protein product - - - - Ensembl - ENSG00000102974 - - - Genatlas - CTCF - - - HGNC - 13723 - - - OMIM - 604167 - - - Reactome - P49711 - - - SwissProt - P49711 - - - ClinVar - CTCF - - - - - 16q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 363494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363494 - Non-seminomatous germ cell tumor of testis - - Disease - - - Disorder - - - - 19483682[PMID]_20228134[PMID]_23640991[PMID] - - KIT ligand - KITLG - - SLF - FPH2 - KL-1 - Kitl - SCF - SF - familial progressive hyperpigmentation 2 - mast cell growth factor - steel factor - stem cell factor - DFNA69 - - - gene with protein product - - - - Ensembl - ENSG00000049130 - - - Genatlas - KITLG - - - HGNC - 6343 - - - OMIM - 184745 - - - Reactome - P21583 - - - SwissProt - P21583 - - - ClinVar - KITLG - - - - - 12q21.32 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 19483682[PMID]_23640991[PMID] - - sprouty RTK signaling antagonist 4 - SPRY4 - - - - gene with protein product - - - - ClinVar - SPRY4 - - - Reactome - Q9C004 - - - Ensembl - ENSG00000187678 - - - Genatlas - SPRY4 - - - HGNC - 15533 - - - OMIM - 607984 - - - SwissProt - Q9C004 - - - - - 5q31.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 363523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363523 - Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome - - Disease - - - Disorder - - - - 23606727[PMID] - - component of oligomeric golgi complex 6 - COG6 - - COD2 - KIAA1134 - - - gene with protein product - - - - Ensembl - ENSG00000133103 - - - Genatlas - COG6 - - - HGNC - 18621 - - - OMIM - 606977 - - - Reactome - Q9Y2V7 - - - SwissProt - Q9Y2V7 - - - ClinVar - COG6 - - - - - 13q14.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 363534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363534 - Mitochondrial DNA depletion syndrome, hepatocerebrorenal form - - Disease - - - Disorder - - - - 23375728[PMID] - - twinkle mtDNA helicase - TWNK - - FLJ21832 - PEO - PEO1 - T7 helicase-related protein with intramitochondrial nucleoid localization - TWINKLE - TWINL - - - gene with protein product - - - - Ensembl - ENSG00000107815 - - - Genatlas - C10orf2 - - - HGNC - 1160 - - - OMIM - 606075 - - - Reactome - Q96RR1 - - - SwissProt - Q96RR1 - - - ClinVar - C10orf2 - - - - - 10q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 363528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363528 - Intellectual disability-strabismus syndrome - - Disease - - - Disorder - - - - 23620220[PMID] - - adenosine deaminase tRNA specific 3 - ADAT3 - - TAD3 - tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae) - - - gene with protein product - - - - Reactome - Q96EY9 - - - SwissProt - Q96EY9 - - - Ensembl - ENSG00000213638 - - - Genatlas - ADAT3 - - - HGNC - 25151 - - - OMIM - 615302 - - - ClinVar - ADAT3 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 363444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363444 - THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - 23621916[PMID] - - THO complex subunit 6 - THOC6 - - MGC2655 - fSAP35 - functional spliceosome-associated protein 35 - - - gene with protein product - - - - Reactome - Q86W42 - - - ClinVar - THOC6 - - - Ensembl - ENSG00000131652 - - - Genatlas - THOC6 - - - HGNC - 28369 - - - OMIM - 615403 - - - SwissProt - Q86W42 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 363454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363454 - BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy - - Etiological subtype - - - Subtype of disorder - - - - 23664119[PMID] - - BICD cargo adaptor 2 - BICD2 - - KIAA0699 - - - gene with protein product - - - - Reactome - Q8TD16 - - - Ensembl - ENSG00000185963 - - - Genatlas - BICD2 - - - HGNC - 17208 - - - OMIM - 609797 - - - SwissProt - Q8TD16 - - - ClinVar - BICD2 - - - - - 9q22.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 357329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357329 - Combined immunodeficiency due to IL21R deficiency - - Disease - - - Disorder - - - - 23440042[PMID] - - interleukin 21 receptor - IL21R - - CD360 - - - gene with protein product - - - - IUPHAR - 1703 - - - Ensembl - ENSG00000103522 - - - Genatlas - IL21R - - - HGNC - 6006 - - - OMIM - 605383 - - - SwissProt - Q9HBE5 - - - ClinVar - IL21R - - - - - 16p12.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 357237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357237 - Combined immunodeficiency due to CARD11 deficiency - - Disease - - - Disorder - - - - 23561803[PMID]_23374270[PMID] - - caspase recruitment domain family member 11 - CARD11 - - BIMP3 - CARMA1 - bcl10-interacting maguk protein 3 - card-maguk protein 1 - - - gene with protein product - - - - ClinVar - CARD11 - - - Ensembl - ENSG00000198286 - - - Genatlas - CARD11 - - - HGNC - 16393 - - - OMIM - 607210 - - - Reactome - Q9BXL7 - - - SwissProt - Q9BXL7 - - - - - 7p22.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 356978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356978 - D,L-2-hydroxyglutaric aciduria - - Disease - - - Disorder - - - - 23561848[PMID]_23393310[PMID] - - solute carrier family 25 member 1 - SLC25A1 - - Tricarboxylate transport protein, mitochondrial - citrate transport protein - CTP - CIC - citrate isocitrate carrier - - - gene with protein product - - - - Genatlas - SLC25A1 - - - HGNC - 10979 - - - OMIM - 190315 - - - Reactome - P53007 - - - SwissProt - P53007 - - - ClinVar - SLC25A1 - - - IUPHAR - 1051 - - - Ensembl - ENSG00000100075 - - - - - 22q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 356961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356961 - SLC35A2-CDG - - Disease - - - Disorder - - - - 23561849[PMID] - - solute carrier family 35 member A2 - SLC35A2 - - UGAT - UGT - UGT1 - UGT2 - UGTL - UDP-Gal-Tr - UDP-galactose translocator - - - gene with protein product - - - - ClinVar - SLC35A2 - - - IUPHAR - 1139 - - - Ensembl - ENSG00000102100 - - - Genatlas - SLC35A2 - - - HGNC - 11022 - - - OMIM - 314375 - - - Reactome - P78381 - - - SwissProt - P78381 - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 357008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357008 - Hemolytic uremic syndrome with DGKE deficiency - - Disease - - - Disorder - - - - 23542698[PMID]_20301541[PMID] - - diacylglycerol kinase epsilon - DGKE - - DAGK6 - DGK - - - gene with protein product - - - - ClinVar - DGKE - - - Ensembl - ENSG00000153933 - - - Genatlas - DGKE - - - HGNC - 2852 - - - OMIM - 601440 - - - Reactome - P52429 - - - SwissProt - P52429 - - - - - 17q22 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 356996 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356996 - ANK3-related intellectual disability-sleep disturbance syndrome - - Disease - - - Disorder - - - - 23390136[PMID] - - ankyrin 3 - ANK3 - - ankyrin-3, node of Ranvier - ankyrin-G - - - gene with protein product - - - - Ensembl - ENSG00000151150 - - - Genatlas - ANK3 - - - HGNC - 494 - - - OMIM - 600465 - - - Reactome - Q12955 - - - SwissProt - Q12955 - - - ClinVar - ANK3 - - - - - 10q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 357043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357043 - Amyotrophic lateral sclerosis type 4 - - Disease - - - Disorder - - - - 15106121[PMID]_15478096[PMID] - - senataxin - SETX - - Sen1 - AOA2 - KIAA0625 - STEX - - - gene with protein product - - - - ClinVar - SETX - - - OMIM - 608465 - - - SwissProt - Q7Z333 - - - Ensembl - ENSG00000107290 - - - Genatlas - SETX - - - HGNC - 445 - - - Reactome - Q7Z333 - - - - - 9q34.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 357034 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357034 - Non-hereditary retinoblastoma - - Clinical subtype - - - Subtype of disorder - - - - 23498719[PMID]_23498780[PMID]_16934146[PMID] - - RB transcriptional corepressor 1 - RB1 - - PPP1R130 - RB - prepro-retinoblastoma-associated protein - protein phosphatase 1, regulatory subunit 130 - - - gene with protein product - - - - ClinVar - RB1 - - - SwissProt - P06400 - - - Ensembl - ENSG00000139687 - - - Genatlas - RB1 - - - HGNC - 9884 - - - OMIM - 614041 - - - Reactome - P06400 - - - - - 13q14.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 23498719[PMID]_23498720[PMID] - - MYCN proto-oncogene, bHLH transcription factor - MYCN - - MYCNOT - N-myc - bHLHe37 - - - gene with protein product - - - - Reactome - P04198 - - - ClinVar - MYCN - - - OMIM - 164840 - - - SwissProt - P04198 - - - Ensembl - ENSG00000134323 - - - Genatlas - MYCN - - - HGNC - 7559 - - - - - 2p24.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 357027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357027 - Hereditary retinoblastoma - - Clinical subtype - - - Subtype of disorder - - - - 20301625[PMID]_23498719[PMID]_23498780[PMID]_16934146[PMID] - - RB transcriptional corepressor 1 - RB1 - - PPP1R130 - RB - prepro-retinoblastoma-associated protein - protein phosphatase 1, regulatory subunit 130 - - - gene with protein product - - - - ClinVar - RB1 - - - SwissProt - P06400 - - - Ensembl - ENSG00000139687 - - - Genatlas - RB1 - - - HGNC - 9884 - - - OMIM - 614041 - - - Reactome - P06400 - - - - - 13q14.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23498719[PMID]_23498720[PMID] - - MYCN proto-oncogene, bHLH transcription factor - MYCN - - MYCNOT - N-myc - bHLHe37 - - - gene with protein product - - - - Reactome - P04198 - - - ClinVar - MYCN - - - OMIM - 164840 - - - SwissProt - P04198 - - - Ensembl - ENSG00000134323 - - - Genatlas - MYCN - - - HGNC - 7559 - - - - - 2p24.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 357074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074 - Autosomal recessive cutis laxa type 2, classic type - - Clinical subtype - - - Subtype of disorder - - - - 28065471[PMID] - - ATPase H+ transporting V1 subunit E1 - ATP6V1E1 - - ATP6E2 - P31 - Vma4 - V-ATPase subunit E1 - - - gene with protein product - - - - IUPHAR - 816 - - - ClinVar - ATP6V1E1 - - - HGNC - 857 - - - Ensembl - ENSG00000131100 - - - SwissProt - P36543 - - - OMIM - 108746 - - - Genatlas - ATP6V1E1 - - - Reactome - R-HSA-912606 - - - - - 22q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28065471[PMID] - - ATPase H+ transporting V1 subunit A - ATP6V1A - - VA68 - Vma1 - V-ATPase subunit A - V-type proton ATPase (V-ATPase) catalytic subunit A - - - gene with protein product - - - - HGNC - 851 - - - Ensembl - ENSG00000114573 - - - OMIM - 607027 - - - Genatlas - ATP6V1A - - - Reactome - P38606 - - - SwissProt - P38606 - - - IUPHAR - 810 - - - ClinVar - ATP6V1A - - - - - 3q13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301755[PMID]_19321599[PMID]_18157129[PMID] - - ATPase H+ transporting V0 subunit a2 - ATP6V0A2 - - ATP6N1D - ATP6a2 - J6B7 - Stv1 - TJ6 - TJ6M - TJ6s - Vph1 - a2 - V-ATPase subunit a2 - V-type proton ATPase 116 kDa subunit a2 - regeneration and tolerance factor - a2V - RTF - - - gene with protein product - - - - ClinVar - ATP6V0A2 - - - Reactome - Q9Y487 - - - SwissProt - Q9Y487 - - - Ensembl - ENSG00000185344 - - - Genatlas - ATP6V0A2 - - - HGNC - 18481 - - - OMIM - 611716 - - - IUPHAR - 824 - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 357064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357064 - Autosomal recessive cutis laxa type 2B - - Disease - - - Disorder - - - - 19576563[PMID] - - pyrroline-5-carboxylate reductase 1 - PYCR1 - - P5C - - - gene with protein product - - - - Ensembl - ENSG00000183010 - - - Genatlas - PYCR1 - - - HGNC - 9721 - - - OMIM - 179035 - - - Reactome - P32322 - - - SwissProt - P32322 - - - ClinVar - PYCR1 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 352654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352654 - Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome - - Disease - - - Disorder - - - - 23359680[PMID] - - ubiquitin C-terminal hydrolase L1 - UCHL1 - - PGP9.5 - Uch-L1 - ubiquitin thiolesterase - UCHL-1 - - - gene with protein product - - - - Reactome - P09936 - - - Ensembl - ENSG00000154277 - - - Genatlas - UCHL1 - - - HGNC - 12513 - - - IUPHAR - 2426 - - - OMIM - 191342 - - - SwissProt - P09936 - - - ClinVar - UCHL1 - - - - - 4p13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 352662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352662 - Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome - - Disease - - - Disorder - - - - 23349227[PMID] - - NLR family pyrin domain containing 1 - NLRP1 - - CARD7 - CLR17.1 - DEFCAP - DKFZp586O1822 - KIAA0926 - NAC - VAMAS1 - nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1 - - - gene with protein product - - - - IUPHAR - 1768 - - - ClinVar - NLRP1 - - - Ensembl - ENSG00000091592 - - - Genatlas - NLRP1 - - - HGNC - 14374 - - - OMIM - 606636 - - - Reactome - Q9C000 - - - SwissProt - Q9C000 - - - - - 17p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 352641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352641 - Autosomal recessive cerebellar ataxia with late-onset spasticity - - Disease - - - Disorder - - - - 23332917[PMID] - - glucosylceramidase beta 2 - GBA2 - - AD035 - Bile acid beta-glucosidase - DKFZp762K054 - KIAA1605 - Non-lysosomal glucosylceramidase - bile acid beta-glucosidase - non-lysosomal glucosylceramidase - glucocerebrosidase 2 - - - gene with protein product - - - - HGNC - 18986 - - - OMIM - 609471 - - - Reactome - Q9HCG7 - - - SwissProt - Q9HCG7 - - - Ensembl - ENSG00000070610 - - - Genatlas - GBA2 - - - ClinVar - GBA2 - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 352649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352649 - Brain dopamine-serotonin vesicular transport disease - - Disease - - - Disorder - - - - 23363473[PMID] - - solute carrier family 18 member A2 - SLC18A2 - - VAT2 - SVAT - SVMT - Synaptic vesicular amine transporter - - - gene with protein product - - - - ClinVar - SLC18A2 - - - Ensembl - ENSG00000165646 - - - Genatlas - SLC18A2 - - - HGNC - 10935 - - - IUPHAR - 1012 - - - OMIM - 193001 - - - Reactome - Q05940 - - - SwissProt - Q05940 - - - - - 10q25.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 352596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352596 - Progressive myoclonic epilepsy with dystonia - - Disease - - - Disorder - - - - 21087195[PMID]_23343562[PMID] - - TBC1 domain family member 24 - TBC1D24 - - DFNA65 - KIAA1171 - TBC/LysM-associated domain containing 6 - TLDC6 - skywalker homolog (Drosophila) - deafness, autosomal dominant 65 - - - gene with protein product - - - - ClinVar - TBC1D24 - - - Reactome - Q9ULP9 - - - Ensembl - ENSG00000162065 - - - Genatlas - TBC1D24 - - - HGNC - 29203 - - - OMIM - 613577 - - - SwissProt - Q9ULP9 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 352577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352577 - Bainbridge-Ropers syndrome - - Disease - - - Disorder - - - - 23383720[PMID] - - ASXL transcriptional regulator 3 - ASXL3 - - - - gene with protein product - - - - ClinVar - ASXL3 - - - Ensembl - ENSG00000141431 - - - Genatlas - ASXL3 - - - HGNC - 29357 - - - OMIM - 615115 - - - SwissProt - Q9C0F0 - - - - - 18q12.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 352587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352587 - Focal epilepsy-intellectual disability-cerebro-cerebellar malformation - - Disease - - - Disorder - - - - 23517570[PMID] - - TBC1 domain family member 24 - TBC1D24 - - DFNA65 - KIAA1171 - TBC/LysM-associated domain containing 6 - TLDC6 - skywalker homolog (Drosophila) - deafness, autosomal dominant 65 - - - gene with protein product - - - - ClinVar - TBC1D24 - - - Reactome - Q9ULP9 - - - Ensembl - ENSG00000162065 - - - Genatlas - TBC1D24 - - - HGNC - 29203 - - - OMIM - 613577 - - - SwissProt - Q9ULP9 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 352582 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352582 - Familial infantile myoclonic epilepsy - - Disease - - - Disorder - - - - 28422131[PMID] - - complexin 1 - CPLX1 - - CPX-I - - - gene with protein product - - - - HGNC - 2309 - - - Ensembl - ENSG00000168993 - - - SwissProt - O14810 - - - OMIM - 605032 - - - Genatlas - CPLX1 - - - Reactome - O14810 - - - ClinVar - CPLX1 - - - - - 4p16.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20727515[PMID] - - TBC1 domain family member 24 - TBC1D24 - - DFNA65 - KIAA1171 - TBC/LysM-associated domain containing 6 - TLDC6 - skywalker homolog (Drosophila) - deafness, autosomal dominant 65 - - - gene with protein product - - - - ClinVar - TBC1D24 - - - Reactome - Q9ULP9 - - - Ensembl - ENSG00000162065 - - - Genatlas - TBC1D24 - - - HGNC - 29203 - - - OMIM - 613577 - - - SwissProt - Q9ULP9 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 352734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352734 - Minimal pigment oculocutaneous albinism type 1 - - Clinical subtype - - - Subtype of disorder - - - - 20301345[PMID] - - tyrosinase - TYR - - OCA1 - OCA1A - OCAIA - oculocutaneous albinism IA - - - gene with protein product - - - - Ensembl - ENSG00000077498 - - - Genatlas - TYR - - - HGNC - 12442 - - - IUPHAR - 2643 - - - OMIM - 606933 - - - Reactome - P14679 - - - SwissProt - P14679 - - - ClinVar - TYR - - - - - 11q14.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 352737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352737 - Temperature-sensitive oculocutaneous albinism type 1 - - Clinical subtype - - - Subtype of disorder - - - - 20301345[PMID] - - tyrosinase - TYR - - OCA1 - OCA1A - OCAIA - oculocutaneous albinism IA - - - gene with protein product - - - - Ensembl - ENSG00000077498 - - - Genatlas - TYR - - - HGNC - 12442 - - - IUPHAR - 2643 - - - OMIM - 606933 - - - Reactome - P14679 - - - SwissProt - P14679 - - - ClinVar - TYR - - - - - 11q14.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 352709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352709 - CLN13 disease - - Disease - - - Disorder - - - - 21990111[PMID]_22778232[PMID] - - cathepsin F - CTSF - - CLN13 - CATSF - - - gene with protein product - - - - ClinVar - CTSF - - - Ensembl - ENSG00000174080 - - - Genatlas - CTSF - - - HGNC - 2531 - - - IUPHAR - 2347 - - - OMIM - 603539 - - - Reactome - Q9UBX1 - - - SwissProt - Q9UBX1 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 352712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352712 - Facial dysmorphism-immunodeficiency-livedo-short stature syndrome - - Disease - - - Disorder - - - - 23230001[PMID] - - DNA polymerase epsilon, catalytic subunit - POLE - - DNA polymerase epsilon catalytic subunit A - POLE1 - - - gene with protein product - - - - ClinVar - POLE - - - OMIM - 174762 - - - Reactome - Q07864 - - - SwissProt - Q07864 - - - Ensembl - ENSG00000177084 - - - Genatlas - POLE - - - HGNC - 9177 - - - - - 12q24.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 352718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352718 - Progressive retinal dystrophy due to retinol transport defect - - Disease - - - Disorder - - - - 23189188[PMID] - - retinol binding protein 4 - RBP4 - - - - gene with protein product - - - - IUPHAR - 2549 - - - ClinVar - RBP4 - - - Ensembl - ENSG00000138207 - - - Genatlas - RBP4 - - - HGNC - 9922 - - - OMIM - 180250 - - - Reactome - P02753 - - - SwissProt - P02753 - - - - - 10q23.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 352723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352723 - Attenuated Chédiak-Higashi syndrome - - Disease - - - Disorder - - - - 23521865[PMID] - - lysosomal trafficking regulator - LYST - - CHS - Mauve - - - gene with protein product - - - - ClinVar - LYST - - - Ensembl - ENSG00000143669 - - - Genatlas - LYST - - - HGNC - 1968 - - - OMIM - 606897 - - - SwissProt - Q99698 - - - - - 1q42.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 352665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352665 - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion - - Etiological subtype - - - Subtype of disorder - - - - 26173930[PMID]_24501764[PMID]_25348648[PMID] - - heterogeneous nuclear ribonucleoprotein K - HNRNPK - - CSBP - transformation upregulated nuclear protein - TUNP - - - gene with protein product - - - - HGNC - 5044 - - - OMIM - 600712 - - - Genatlas - HNRNPK - - - SwissProt - P61978 - - - Reactome - P61978 - - - Ensembl - ENSG00000165119 - - - ClinVar - HNRNPK - - - - - 9q21.32 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 352670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352670 - Autosomal dominant intermediate Charcot-Marie-Tooth disease type F - - Disease - - - Disorder - - - - 23434117[PMID] - - G protein subunit beta 4 - GNB4 - - Guanine nucleotide-binding protein subunit beta-4 - transducin beta chain 4 - - - gene with protein product - - - - ClinVar - GNB4 - - - Ensembl - ENSG00000114450 - - - Genatlas - GNB4 - - - HGNC - 20731 - - - OMIM - 610863 - - - Reactome - Q9HAV0 - - - SwissProt - Q9HAV0 - - - - - 3q26.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 352675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352675 - X-linked Charcot-Marie-Tooth disease type 6 - - Disease - - - Disorder - - - - 23297365[PMID] - - pyruvate dehydrogenase kinase 3 - PDK3 - - - - gene with protein product - - - - ClinVar - PDK3 - - - HGNC - 8811 - - - IUPHAR - 2143 - - - OMIM - 300906 - - - Reactome - Q15120 - - - SwissProt - Q15120 - - - Ensembl - ENSG00000067992 - - - Genatlas - PDK3 - - - - - Xp22.11 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 352682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352682 - Cobblestone lissencephaly without muscular or ocular involvement - - Disease - - - Disorder - - - - 23472759[PMID] - - laminin subunit beta 1 - LAMB1 - - - - gene with protein product - - - - ClinVar - LAMB1 - - - Ensembl - ENSG00000091136 - - - Genatlas - LAMB1 - - - HGNC - 6486 - - - OMIM - 150240 - - - Reactome - P07942 - - - SwissProt - P07942 - - - - - 7q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 353277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277 - Rubinstein-Taybi syndrome due to CREBBP mutations - - Etiological subtype - - - Subtype of disorder - - - - 20301699[PMID] - - CREB binding lysine acetyltransferase - CREBBP - - CBP - KAT3A - RTS - - - gene with protein product - - - - Ensembl - ENSG00000005339 - - - Genatlas - CREBBP - - - HGNC - 2348 - - - IUPHAR - 2734 - - - OMIM - 600140 - - - Reactome - Q92793 - - - ClinVar - CREBBP - - - SwissProt - Q92793 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 353220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353220 - Familial primary localized cutaneous amyloidosis - - Disease - - - Disorder - - - - 20507362[PMID] - - oncostatin M receptor - OSMR - - OSMRbeta - OSMRB - Oncostatin-M-specific receptor subunit beta - - - gene with protein product - - - - Reactome - Q99650 - - - SwissProt - Q99650 - - - Ensembl - ENSG00000145623 - - - Genatlas - OSMR - - - HGNC - 8507 - - - OMIM - 601743 - - - ClinVar - OSMR - - - IUPHAR - 1714 - - - - - 5p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19690585[PMID] - - interleukin 31 receptor A - IL31RA - - CRL - CRL3 - GLM-R - Glmr - IL-31RA - - - gene with protein product - - - - Reactome - Q8NI17 - - - ClinVar - IL31RA - - - Genatlas - IL31RA - - - HGNC - 18969 - - - OMIM - 609510 - - - SwissProt - Q8NI17 - - - IUPHAR - 1710 - - - Ensembl - ENSG00000164509 - - - - - 5q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 353217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353217 - Epileptic encephalopathy with global cerebral demyelination - - Disease - - - Disorder - - - - 19641205[PMID] - - solute carrier family 25 member 12 - SLC25A12 - - AGC1 - aspartate/glutamate carrier 1 - Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial - Aralar - aralar1 - - - gene with protein product - - - - ClinVar - SLC25A12 - - - Ensembl - ENSG00000115840 - - - Genatlas - SLC25A12 - - - HGNC - 10982 - - - OMIM - 603667 - - - Reactome - O75746 - - - SwissProt - O75746 - - - IUPHAR - 1054 - - - - - 2q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 352745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352745 - Oculocutaneous albinism type 7 - - Disease - - - Disorder - - - - 23395477[PMID] - - leucine rich melanocyte differentiation associated - LRMDA - - CDA017 - OCA7 - oculocutaneous albinism 7, autosomal recessive - - - gene with protein product - - - - ClinVar - C10orf11 - - - Ensembl - ENSG00000148655 - - - Genatlas - C10orf11 - - - HGNC - 23405 - - - OMIM - 614537 - - - SwissProt - Q9H2I8 - - - - - 10q22.2-q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 353320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353320 - Pyruvate carboxylase deficiency, benign type - - Clinical subtype - - - Subtype of disorder - - - - 20301764[PMID] - - pyruvate carboxylase - PC - - PCB - - - gene with protein product - - - - Ensembl - ENSG00000173599 - - - Genatlas - PC - - - HGNC - 8636 - - - OMIM - 608786 - - - Reactome - P11498 - - - SwissProt - P11498 - - - ClinVar - PC - - - IUPHAR - 1262 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 353327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353327 - Congenital myasthenic syndromes with glycosylation defect - - Etiological subtype - - - Subtype of disorder - - - - 23404334[PMID] - - ALG2 alpha-1,3/1,6-mannosyltransferase - ALG2 - - CDGIi - FLJ14511 - NET38 - hALPG2 - CDG1I - - - gene with protein product - - - - Ensembl - ENSG00000119523 - - - Genatlas - ALG2 - - - HGNC - 23159 - - - OMIM - 607905 - - - Reactome - Q9H553 - - - SwissProt - Q9H553 - - - ClinVar - ALG2 - - - - - 9q22.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23404334[PMID]_22742743[PMID] - - dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 - DPAGT1 - - ALG7 - CDG-Ij - D11S366 - DGPT - GPT - GlcNAc-1-P transferase 1 - UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 - - - gene with protein product - - - - ClinVar - DPAGT1 - - - Genatlas - DPAGT1 - - - HGNC - 2995 - - - OMIM - 191350 - - - Reactome - Q9H3H5 - - - SwissProt - Q9H3H5 - - - Ensembl - ENSG00000172269 - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23404334[PMID]_21310273[PMID] - - glutamine--fructose-6-phosphate transaminase 1 - GFPT1 - - GFA - GFAT - GFAT1 - - - gene with protein product - - - - Ensembl - ENSG00000198380 - - - Genatlas - GFPT1 - - - HGNC - 4241 - - - OMIM - 138292 - - - Reactome - Q06210 - - - SwissProt - Q06210 - - - ClinVar - GFPT1 - - - - - 2p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23404334[PMID] - - ALG14 UDP-N-acetylglucosaminyltransferase subunit - ALG14 - - MGC19780 - - - gene with protein product - - - - ClinVar - ALG14 - - - Ensembl - ENSG00000172339 - - - Genatlas - ALG14 - - - HGNC - 28287 - - - OMIM - 612866 - - - Reactome - Q96F25 - - - SwissProt - Q96F25 - - - - - 1p21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26133662[PMID] - - GDP-mannose pyrophosphorylase B - GMPPB - - KIAA1851 - mannose-1-phosphate guanyltransferase beta - - - gene with protein product - - - - Ensembl - ENSG00000173540 - - - Genatlas - GMPPB - - - HGNC - 22932 - - - OMIM - 615320 - - - Reactome - Q9Y5P6 - - - SwissProt - Q9Y5P6 - - - ClinVar - GMPPB - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 353308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353308 - Pyruvate carboxylase deficiency, infantile type - - Clinical subtype - - - Subtype of disorder - - - - 20301764[PMID] - - pyruvate carboxylase - PC - - PCB - - - gene with protein product - - - - Ensembl - ENSG00000173599 - - - Genatlas - PC - - - HGNC - 8636 - - - OMIM - 608786 - - - Reactome - P11498 - - - SwissProt - P11498 - - - ClinVar - PC - - - IUPHAR - 1262 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 353314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353314 - Pyruvate carboxylase deficiency, severe neonatal type - - Clinical subtype - - - Subtype of disorder - - - - 20301764[PMID] - - pyruvate carboxylase - PC - - PCB - - - gene with protein product - - - - Ensembl - ENSG00000173599 - - - Genatlas - PC - - - HGNC - 8636 - - - OMIM - 608786 - - - Reactome - P11498 - - - SwissProt - P11498 - - - ClinVar - PC - - - IUPHAR - 1262 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 353298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353298 - Roifman syndrome - - Disease - - - Disorder - - - - 26522830[PMID] - - RNA, U4atac small nuclear - RNU4ATAC - - U4atac snRNA - U4atac - RNU4ATAC1 - - - Non-coding RNA - - - - ClinVar - RNU4ATAC - - - Ensembl - ENSG00000264229 - - - Genatlas - RNU4ATAC - - - HGNC - 34016 - - - OMIM - 601428 - - - SwissProt - - - - - - 2q14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 353281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281 - Rubinstein-Taybi syndrome due to 16p13.3 microdeletion - - Etiological subtype - - - Subtype of disorder - - - - 20301699[PMID] - - CREB binding lysine acetyltransferase - CREBBP - - CBP - KAT3A - RTS - - - gene with protein product - - - - Ensembl - ENSG00000005339 - - - Genatlas - CREBBP - - - HGNC - 2348 - - - IUPHAR - 2734 - - - OMIM - 600140 - - - Reactome - Q92793 - - - ClinVar - CREBBP - - - SwissProt - Q92793 - - - - - 16p13.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 353284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284 - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency - - Etiological subtype - - - Subtype of disorder - - - - 20301699[PMID] - - EP300 lysine acetyltransferase - EP300 - - KAT3B - histone acetyltransferase p300 - p300 - - - gene with protein product - - - - Ensembl - ENSG00000100393 - - - Genatlas - EP300 - - - HGNC - 3373 - - - IUPHAR - 2735 - - - OMIM - 602700 - - - Reactome - Q09472 - - - SwissProt - Q09472 - - - ClinVar - EP300 - - - - - 22q13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 352403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352403 - Spectrin-associated autosomal recessive cerebellar ataxia - - Disease - - - Disorder - - - - 23236289[PMID] - - spectrin beta, non-erythrocytic 2 - SPTBN2 - - - - gene with protein product - - - - Reactome - O15020 - - - SwissProt - O15020 - - - Ensembl - ENSG00000173898 - - - Genatlas - SPTBN2 - - - HGNC - 11276 - - - OMIM - 604985 - - - ClinVar - SPTBN2 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 352333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352333 - Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome - - Disease - - - Disorder - - - - 22100072[PMID] - - ELOVL fatty acid elongase 4 - ELOVL4 - - CT118 - cancer/testis antigen 118 - - - gene with protein product - - - - ClinVar - ELOVL4 - - - Ensembl - ENSG00000118402 - - - Genatlas - ELOVL4 - - - HGNC - 14415 - - - OMIM - 605512 - - - Reactome - Q9GZR5 - - - SwissProt - Q9GZR5 - - - - - 6q14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 352328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352328 - MEGDEL syndrome - - Disease - - - Disorder - - - - 22683713[PMID] - - serine active site containing 1 - SERAC1 - - FLJ14917 - - - gene with protein product - - - - ClinVar - SERAC1 - - - Ensembl - ENSG00000122335 - - - Genatlas - SERAC1 - - - HGNC - 21061 - - - OMIM - 614725 - - - SwissProt - Q96JX3 - - - - - 6q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 352447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352447 - Progressive external ophthalmoplegia-myopathy-emaciation syndrome - - Disease - - - Disorder - - - - 23313956[PMID] - - mitochondrial genome maintenance exonuclease 1 - MGME1 - - DDK1 - bA504H3.4 - - - gene with protein product - - - - ClinVar - MGME1 - - - Reactome - Q9BQP7 - - - Ensembl - ENSG00000125871 - - - Genatlas - MGME1 - - - HGNC - 16205 - - - OMIM - 615076 - - - SwissProt - Q9BQP7 - - - - - 20p11.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 352530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352530 - Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome - - Disease - - - Disorder - - - - 22549410[PMID] - - trafficking protein particle complex subunit 9 - TRAPPC9 - - IKBKBBP - KIAA1882 - MRT13 - NIBP - T1 - TRAPP 120 kDa subunit - TRS120 - tularik gene 1 - - - gene with protein product - - - - Ensembl - ENSG00000167632 - - - Genatlas - TRAPPC9 - - - HGNC - 30832 - - - OMIM - 611966 - - - Reactome - Q96Q05 - - - SwissProt - Q96Q05 - - - ClinVar - TRAPPC9 - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 352563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352563 - Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency - - Disease - - - Disorder - - - - 23315540[PMID] - - mitochondrial ribosomal protein L44 - MRPL44 - - mL44 - 39S ribosomal protein L44, mitochondrial - FLJ12701 - FLJ13990 - - - gene with protein product - - - - ClinVar - MRPL44 - - - Ensembl - ENSG00000135900 - - - Genatlas - MRPL44 - - - HGNC - 16650 - - - OMIM - 611849 - - - Reactome - Q9H9J2 - - - SwissProt - Q9H9J2 - - - - - 2q36.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 352479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352479 - ISPD-related limb-girdle muscular dystrophy R20 - - Disease - - - Disorder - - - - 23288328[PMID] - - CDP-L-ribitol pyrophosphorylase A - CRPPA - - 4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis) - IspD - Nip - Notch1-induced protein - hCG_1745121 - D-ribitol-5-phosphate cytidylyltransferase - notch1-induced protein - - - gene with protein product - - - - ClinVar - ISPD - - - OMIM - 614631 - - - SwissProt - A4D126 - - - Ensembl - ENSG00000214960 - - - Genatlas - ISPD - - - HGNC - 37276 - - - - - 7p21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 352470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352470 - DNA2-related mitochondrial DNA deletion syndrome - - Disease - - - Disorder - - - - 23352259[PMID] - - DNA replication helicase/nuclease 2 - DNA2 - - KIAA0083 - - - gene with protein product - - - - ClinVar - DNA2 - - - Genatlas - DNA2 - - - HGNC - 2939 - - - OMIM - 601810 - - - Reactome - P51530 - - - SwissProt - P51530 - - - Ensembl - ENSG00000138346 - - - - - 10q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 352490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352490 - Autism spectrum disorder due to AUTS2 deficiency - - Disease - - - Disorder - - - - 23332918[PMID] - - activator of transcription and developmental regulator AUTS2 - AUTS2 - - FBRSL2 - KIAA0442 - - - gene with protein product - - - - ClinVar - AUTS2 - - - Ensembl - ENSG00000158321 - - - Genatlas - AUTS2 - - - HGNC - 14262 - - - OMIM - 607270 - - - SwissProt - Q8WXX7 - - - Reactome - Q8WXX7 - - - - - 7q11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 294415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294415 - Renal-hepatic-pancreatic dysplasia - - Malformation syndrome - - - Disorder - - - - 20007846[PMID]_18371931[PMID] - - nephrocystin 3 - NPHP3 - - CFAP31 - FLJ30691 - FLJ36696 - KIAA2000 - MKS7 - Meckel syndrome, type 7 - NPH3 - SLSN3 - cilia and flagella associated protein 31 - - - gene with protein product - - - - ClinVar - NPHP3 - - - Ensembl - ENSG00000113971 - - - Genatlas - NPHP3 - - - HGNC - 7907 - - - OMIM - 608002 - - - Reactome - Q7Z494 - - - SwissProt - Q7Z494 - - - - - 3q22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23418306[PMID] - - NIMA related kinase 8 - NEK8 - - NPHP9 - - - gene with protein product - - - - ClinVar - NEK8 - - - Reactome - Q86SG6 - - - Ensembl - ENSG00000160602 - - - Genatlas - NEK8 - - - HGNC - 13387 - - - IUPHAR - 2123 - - - OMIM - 609799 - - - SwissProt - Q86SG6 - - - - - 17q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 294016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294016 - Microcephaly-capillary malformation syndrome - - Malformation syndrome - - - Disorder - - - - 23542699[PMID] - - STAM binding protein - STAMBP - - AMSH - - - gene with protein product - - - - Ensembl - ENSG00000124356 - - - Genatlas - STAMBP - - - HGNC - 16950 - - - OMIM - 606247 - - - SwissProt - O95630 - - - Reactome - O95630 - - - ClinVar - STAMBP - - - - - 2p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 294023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294023 - Neonatal inflammatory skin and bowel disease - - Disease - - - Disorder - - - - 24691054[PMID] - - epidermal growth factor receptor - EGFR - - ERBB1 - erb-b2 receptor tyrosine kinase 1 - erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian) - ERRP - - - gene with protein product - - - - ClinVar - EGFR - - - Ensembl - ENSG00000146648 - - - Genatlas - EGFR - - - HGNC - 3236 - - - IUPHAR - 1797 - - - OMIM - 131550 - - - Reactome - P00533 - - - SwissProt - P00533 - - - - - 7p11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22010916[PMID] - - ADAM metallopeptidase domain 17 - ADAM17 - - CD156B - cSVP - cartilage snake venom-like protease - TNF-alpha convertase enzyme - a disintegrin and metalloproteinase 17 - - - gene with protein product - - - - Genatlas - ADAM17 - - - HGNC - 195 - - - IUPHAR - 1662 - - - OMIM - 603639 - - - Reactome - P78536 - - - SwissProt - P78536 - - - Ensembl - ENSG00000151694 - - - ClinVar - ADAM17 - - - - - 2p25.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 293964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293964 - Hypoinsulinemic hypoglycemia and body hemihypertrophy - - Disease - - - Disorder - - - - 21979934[PMID]_24285683[PMID] - - AKT serine/threonine kinase 2 - AKT2 - - PKBß - - - gene with protein product - - - - ClinVar - AKT2 - - - Ensembl - ENSG00000105221 - - - Genatlas - AKT2 - - - HGNC - 392 - - - IUPHAR - 1480 - - - OMIM - 164731 - - - Reactome - P31751 - - - SwissProt - P31751 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 293978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293978 - Deficiency in anterior pituitary function-variable immunodeficiency syndrome - - Disease - - - Disorder - - - - 25524009[PMID]_24140114[PMID] - - nuclear factor kappa B subunit 2 - NFKB2 - - LYT-10 - NF-kB2 - p105 - p49/p100 - p52 - - - gene with protein product - - - - IUPHAR - 3282 - - - Ensembl - ENSG00000077150 - - - Genatlas - NFKB2 - - - HGNC - 7795 - - - OMIM - 164012 - - - Reactome - Q00653 - - - SwissProt - Q00653 - - - ClinVar - NFKB2 - - - - - 10q24.32 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 293955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293955 - Childhood encephalopathy due to thiamine pyrophosphokinase deficiency - - Disease - - - Disorder - - - - 22152682[PMID] - - thiamin pyrophosphokinase 1 - TPK1 - - HTPK1 - PP20 - Placental protein 20 - Thiamine diphosphokinase - Thiamine kinase - Thiamine pyrophosphokinase 1 - thiamine pyrophosphokinase 1 - thiamine kinase - placental protein 20 - thiamine diphosphokinase - - - gene with protein product - - - - Ensembl - ENSG00000196511 - - - Genatlas - TPK1 - - - HGNC - 17358 - - - OMIM - 606370 - - - Reactome - Q9H3S4 - - - SwissProt - Q9H3S4 - - - ClinVar - TPK1 - - - - - 7q35 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 293948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293948 - 1p21.3 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - 22003227[PMID]_21114665[PMID] - - dihydropyrimidine dehydrogenase - DPYD - - DPD - DHPDHase - Dihydrouracil dehydrogenase - Dihydrothymine dehydrogenase - - - gene with protein product - - - - ClinVar - DPYD - - - Ensembl - ENSG00000188641 - - - Genatlas - DPYD - - - HGNC - 3012 - - - OMIM - 612779 - - - Reactome - Q12882 - - - SwissProt - Q12882 - - - IUPHAR - 3102 - - - - - 1p21.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 293936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293936 - EDICT syndrome - - Disease - - - Disorder - - - - 21996275[PMID] - - microRNA 184 - MIR184 - - hsa-mir-184 - - - Non-coding RNA - - - - Ensembl - ENSG00000207695 - - - Genatlas - MIR184 - - - HGNC - 31555 - - - OMIM - 613146 - - - ClinVar - MIR184 - - - SwissProt - - - - - - 15q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 293925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293925 - Lethal occipital encephalocele-skeletal dysplasia syndrome - - Malformation syndrome - - - Disorder - - - - 22019272[PMID] - - cytochrome P450 family 26 subfamily B member 1 - CYP26B1 - - P450RAI-2 - - - gene with protein product - - - - IUPHAR - 1367 - - - Ensembl - ENSG00000003137 - - - Genatlas - CYP26B1 - - - HGNC - 20581 - - - OMIM - 605207 - - - Reactome - Q9NR63 - - - SwissProt - Q9NR63 - - - ClinVar - CYP26B1 - - - - - 2p13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 293910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293910 - Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant - - Clinical subtype - - - Subtype of disorder - - - - 21810661[PMID] - - titin - TTN - - CMH9 - CMPD4 - FLJ32040 - LGMD2J - MYLK5 - TMD - - - gene with protein product - - - - Reactome - Q8WZ42 - - - SwissProt - Q8WZ42 - - - ClinVar - TTN - - - Ensembl - ENSG00000155657 - - - Genatlas - TTN - - - HGNC - 12403 - - - IUPHAR - 2265 - - - OMIM - 188840 - - - - - 2q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301310[PMID] - - plakophilin 2 - PKP2 - - - - gene with protein product - - - - ClinVar - PKP2 - - - Ensembl - ENSG00000057294 - - - Genatlas - PKP2 - - - HGNC - 9024 - - - OMIM - 602861 - - - SwissProt - Q99959 - - - Reactome - Q99959 - - - - - 12p11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301310[PMID] - - ryanodine receptor 2 - RYR2 - - ARVC2 - VTSIP - - - gene with protein product - - - - IUPHAR - 748 - - - ClinVar - RYR2 - - - Ensembl - ENSG00000198626 - - - Genatlas - RYR2 - - - HGNC - 10484 - - - OMIM - 180902 - - - Reactome - Q92736 - - - SwissProt - Q92736 - - - - - 1q43 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301310[PMID] - - transforming growth factor beta 3 - TGFB3 - - prepro-transforming growth factor beta-3 - - - gene with protein product - - - - ClinVar - TGFB3 - - - SwissProt - P10600 - - - Ensembl - ENSG00000119699 - - - Genatlas - TGFB3 - - - HGNC - 11769 - - - OMIM - 190230 - - - Reactome - P10600 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301310[PMID] - - desmocollin 2 - DSC2 - - CDHF2 - - - gene with protein product - - - - Ensembl - ENSG00000134755 - - - Genatlas - DSC2 - - - HGNC - 3036 - - - OMIM - 125645 - - - SwissProt - Q02487 - - - ClinVar - DSC2 - - - Reactome - Q02487 - - - - - 18q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301310[PMID] - - desmoglein 2 - DSG2 - - CDHF5 - - - gene with protein product - - - - ClinVar - DSG2 - - - Ensembl - ENSG00000046604 - - - Genatlas - DSG2 - - - HGNC - 3049 - - - OMIM - 125671 - - - Reactome - Q14126 - - - SwissProt - Q14126 - - - - - 18q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301310[PMID] - - desmoplakin - DSP - - DPI - DPII - KPPS2 - PPKS2 - - - gene with protein product - - - - ClinVar - DSP - - - Ensembl - ENSG00000096696 - - - Genatlas - DSP - - - HGNC - 3052 - - - OMIM - 125647 - - - Reactome - P15924 - - - SwissProt - P15924 - - - - - 6p24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301310[PMID] - - junction plakoglobin - JUP - - DP3 - DPIII - PDGB - PKGB - PG - desmosomal protein 3 - - - gene with protein product - - - - HGNC - 6207 - - - OMIM - 173325 - - - Reactome - P14923 - - - SwissProt - P14923 - - - Ensembl - ENSG00000173801 - - - Genatlas - JUP - - - ClinVar - JUP - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25041374[PMID] - - LIM domain binding 3 - LDB3 - - KIAA0613 - PDLIM6 - Z-band alternatively spliced PDZ motif protein - ZASP - cypher - oracle - - - gene with protein product - - - - Ensembl - ENSG00000122367 - - - Genatlas - LDB3 - - - HGNC - 15710 - - - OMIM - 605906 - - - SwissProt - O75112 - - - ClinVar - LDB3 - - - - - 10q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23736219[PMID]_22199124[PMID] - - lamin A/C - LMNA - - HGPS - MADA - mandibuloacral dysplasia type A - progerin - - - gene with protein product - - - - ClinVar - LMNA - - - Ensembl - ENSG00000160789 - - - Genatlas - LMNA - - - HGNC - 6636 - - - OMIM - 150330 - - - Reactome - P02545 - - - SwissProt - P02545 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Not yet assessed - - - - 20301310[PMID] - - transmembrane protein 43 - TMEM43 - - DKFZp586G1919 - LUMA - MGC3222 - - - gene with protein product - - - - Reactome - Q9BTV4 - - - ClinVar - TMEM43 - - - Ensembl - ENSG00000170876 - - - Genatlas - TMEM43 - - - HGNC - 28472 - - - OMIM - 612048 - - - SwissProt - Q9BTV4 - - - - - 3p25.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23136403[PMID] - - catenin alpha 3 - CTNNA3 - - alpha-T-catenin - MGC26194 - VR22 - - - gene with protein product - - - - SwissProt - Q9UI47 - - - Ensembl - ENSG00000183230 - - - Genatlas - CTNNA3 - - - HGNC - 2511 - - - OMIM - 607667 - - - ClinVar - CTNNA3 - - - - - 10q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25820315[PMID] - - phospholamban - PLN - - CMD1P - - - gene with protein product - - - - ClinVar - PLN - - - Ensembl - ENSG00000198523 - - - Genatlas - PLN - - - HGNC - 9080 - - - OMIM - 172405 - - - Reactome - P26678 - - - SwissProt - P26678 - - - - - 6q22.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28280076[PMID] - - cadherin 2 - CDH2 - - CD325 - CDHN - N-cadherin - - - gene with protein product - - - - ClinVar - CDH2 - - - Ensembl - ENSG00000170558 - - - Genatlas - CDH2 - - - SwissProt - P19022 - - - OMIM - 114020 - - - HGNC - 1759 - - - - - 18q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 293899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293899 - Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant - - Clinical subtype - - - Subtype of disorder - - - - 21810661[PMID] - - titin - TTN - - CMH9 - CMPD4 - FLJ32040 - LGMD2J - MYLK5 - TMD - - - gene with protein product - - - - Reactome - Q8WZ42 - - - SwissProt - Q8WZ42 - - - ClinVar - TTN - - - Ensembl - ENSG00000155657 - - - Genatlas - TTN - - - HGNC - 12403 - - - IUPHAR - 2265 - - - OMIM - 188840 - - - - - 2q31.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301310[PMID] - - transmembrane protein 43 - TMEM43 - - DKFZp586G1919 - LUMA - MGC3222 - - - gene with protein product - - - - Reactome - Q9BTV4 - - - ClinVar - TMEM43 - - - Ensembl - ENSG00000170876 - - - Genatlas - TMEM43 - - - HGNC - 28472 - - - OMIM - 612048 - - - SwissProt - Q9BTV4 - - - - - 3p25.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23136403[PMID] - - catenin alpha 3 - CTNNA3 - - alpha-T-catenin - MGC26194 - VR22 - - - gene with protein product - - - - SwissProt - Q9UI47 - - - Ensembl - ENSG00000183230 - - - Genatlas - CTNNA3 - - - HGNC - 2511 - - - OMIM - 607667 - - - ClinVar - CTNNA3 - - - - - 10q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301310[PMID] - - desmoglein 2 - DSG2 - - CDHF5 - - - gene with protein product - - - - ClinVar - DSG2 - - - Ensembl - ENSG00000046604 - - - Genatlas - DSG2 - - - HGNC - 3049 - - - OMIM - 125671 - - - Reactome - Q14126 - - - SwissProt - Q14126 - - - - - 18q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301310[PMID] - - plakophilin 2 - PKP2 - - - - gene with protein product - - - - ClinVar - PKP2 - - - Ensembl - ENSG00000057294 - - - Genatlas - PKP2 - - - HGNC - 9024 - - - OMIM - 602861 - - - SwissProt - Q99959 - - - Reactome - Q99959 - - - - - 12p11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301310[PMID] - - ryanodine receptor 2 - RYR2 - - ARVC2 - VTSIP - - - gene with protein product - - - - IUPHAR - 748 - - - ClinVar - RYR2 - - - Ensembl - ENSG00000198626 - - - Genatlas - RYR2 - - - HGNC - 10484 - - - OMIM - 180902 - - - Reactome - Q92736 - - - SwissProt - Q92736 - - - - - 1q43 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301310[PMID] - - transforming growth factor beta 3 - TGFB3 - - prepro-transforming growth factor beta-3 - - - gene with protein product - - - - ClinVar - TGFB3 - - - SwissProt - P10600 - - - Ensembl - ENSG00000119699 - - - Genatlas - TGFB3 - - - HGNC - 11769 - - - OMIM - 190230 - - - Reactome - P10600 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301310[PMID] - - desmocollin 2 - DSC2 - - CDHF2 - - - gene with protein product - - - - Ensembl - ENSG00000134755 - - - Genatlas - DSC2 - - - HGNC - 3036 - - - OMIM - 125645 - - - SwissProt - Q02487 - - - ClinVar - DSC2 - - - Reactome - Q02487 - - - - - 18q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301310[PMID] - - desmoplakin - DSP - - DPI - DPII - KPPS2 - PPKS2 - - - gene with protein product - - - - ClinVar - DSP - - - Ensembl - ENSG00000096696 - - - Genatlas - DSP - - - HGNC - 3052 - - - OMIM - 125647 - - - Reactome - P15924 - - - SwissProt - P15924 - - - - - 6p24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301310[PMID] - - junction plakoglobin - JUP - - DP3 - DPIII - PDGB - PKGB - PG - desmosomal protein 3 - - - gene with protein product - - - - HGNC - 6207 - - - OMIM - 173325 - - - Reactome - P14923 - - - SwissProt - P14923 - - - Ensembl - ENSG00000173801 - - - Genatlas - JUP - - - ClinVar - JUP - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25041374[PMID] - - LIM domain binding 3 - LDB3 - - KIAA0613 - PDLIM6 - Z-band alternatively spliced PDZ motif protein - ZASP - cypher - oracle - - - gene with protein product - - - - Ensembl - ENSG00000122367 - - - Genatlas - LDB3 - - - HGNC - 15710 - - - OMIM - 605906 - - - SwissProt - O75112 - - - ClinVar - LDB3 - - - - - 10q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23736219[PMID]_22199124[PMID] - - lamin A/C - LMNA - - HGPS - MADA - mandibuloacral dysplasia type A - progerin - - - gene with protein product - - - - ClinVar - LMNA - - - Ensembl - ENSG00000160789 - - - Genatlas - LMNA - - - HGNC - 6636 - - - OMIM - 150330 - - - Reactome - P02545 - - - SwissProt - P02545 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Not yet assessed - - - - - - 293888 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293888 - Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant - - Clinical subtype - - - Subtype of disorder - - - - 20301310[PMID] - - plakophilin 2 - PKP2 - - - - gene with protein product - - - - ClinVar - PKP2 - - - Ensembl - ENSG00000057294 - - - Genatlas - PKP2 - - - HGNC - 9024 - - - OMIM - 602861 - - - SwissProt - Q99959 - - - Reactome - Q99959 - - - - - 12p11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301310[PMID] - - desmocollin 2 - DSC2 - - CDHF2 - - - gene with protein product - - - - Ensembl - ENSG00000134755 - - - Genatlas - DSC2 - - - HGNC - 3036 - - - OMIM - 125645 - - - SwissProt - Q02487 - - - ClinVar - DSC2 - - - Reactome - Q02487 - - - - - 18q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21810661[PMID] - - titin - TTN - - CMH9 - CMPD4 - FLJ32040 - LGMD2J - MYLK5 - TMD - - - gene with protein product - - - - Reactome - Q8WZ42 - - - SwissProt - Q8WZ42 - - - ClinVar - TTN - - - Ensembl - ENSG00000155657 - - - Genatlas - TTN - - - HGNC - 12403 - - - IUPHAR - 2265 - - - OMIM - 188840 - - - - - 2q31.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301310[PMID] - - transmembrane protein 43 - TMEM43 - - DKFZp586G1919 - LUMA - MGC3222 - - - gene with protein product - - - - Reactome - Q9BTV4 - - - ClinVar - TMEM43 - - - Ensembl - ENSG00000170876 - - - Genatlas - TMEM43 - - - HGNC - 28472 - - - OMIM - 612048 - - - SwissProt - Q9BTV4 - - - - - 3p25.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301310[PMID] - - ryanodine receptor 2 - RYR2 - - ARVC2 - VTSIP - - - gene with protein product - - - - IUPHAR - 748 - - - ClinVar - RYR2 - - - Ensembl - ENSG00000198626 - - - Genatlas - RYR2 - - - HGNC - 10484 - - - OMIM - 180902 - - - Reactome - Q92736 - - - SwissProt - Q92736 - - - - - 1q43 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301310[PMID] - - transforming growth factor beta 3 - TGFB3 - - prepro-transforming growth factor beta-3 - - - gene with protein product - - - - ClinVar - TGFB3 - - - SwissProt - P10600 - - - Ensembl - ENSG00000119699 - - - Genatlas - TGFB3 - - - HGNC - 11769 - - - OMIM - 190230 - - - Reactome - P10600 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301310[PMID] - - desmoglein 2 - DSG2 - - CDHF5 - - - gene with protein product - - - - ClinVar - DSG2 - - - Ensembl - ENSG00000046604 - - - Genatlas - DSG2 - - - HGNC - 3049 - - - OMIM - 125671 - - - Reactome - Q14126 - - - SwissProt - Q14126 - - - - - 18q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301310[PMID] - - desmoplakin - DSP - - DPI - DPII - KPPS2 - PPKS2 - - - gene with protein product - - - - ClinVar - DSP - - - Ensembl - ENSG00000096696 - - - Genatlas - DSP - - - HGNC - 3052 - - - OMIM - 125647 - - - Reactome - P15924 - - - SwissProt - P15924 - - - - - 6p24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301310[PMID] - - junction plakoglobin - JUP - - DP3 - DPIII - PDGB - PKGB - PG - desmosomal protein 3 - - - gene with protein product - - - - HGNC - 6207 - - - OMIM - 173325 - - - Reactome - P14923 - - - SwissProt - P14923 - - - Ensembl - ENSG00000173801 - - - Genatlas - JUP - - - ClinVar - JUP - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25041374[PMID] - - LIM domain binding 3 - LDB3 - - KIAA0613 - PDLIM6 - Z-band alternatively spliced PDZ motif protein - ZASP - cypher - oracle - - - gene with protein product - - - - Ensembl - ENSG00000122367 - - - Genatlas - LDB3 - - - HGNC - 15710 - - - OMIM - 605906 - - - SwissProt - O75112 - - - ClinVar - LDB3 - - - - - 10q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23736219[PMID]_22199124[PMID] - - lamin A/C - LMNA - - HGPS - MADA - mandibuloacral dysplasia type A - progerin - - - gene with protein product - - - - ClinVar - LMNA - - - Ensembl - ENSG00000160789 - - - Genatlas - LMNA - - - HGNC - 6636 - - - OMIM - 150330 - - - Reactome - P02545 - - - SwissProt - P02545 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Not yet assessed - - - - 23136403[PMID] - - catenin alpha 3 - CTNNA3 - - alpha-T-catenin - MGC26194 - VR22 - - - gene with protein product - - - - SwissProt - Q9UI47 - - - Ensembl - ENSG00000183230 - - - Genatlas - CTNNA3 - - - HGNC - 2511 - - - OMIM - 607667 - - - ClinVar - CTNNA3 - - - - - 10q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 293864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293864 - Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome - - Malformation syndrome - - - Disorder - - - - 21965172[PMID] - - regulatory factor X6 - RFX6 - - DNA-binding protein RFX6 - MGC33442 - dJ955L16.1 - - - gene with protein product - - - - HGNC - 21478 - - - OMIM - 612659 - - - SwissProt - Q8HWS3 - - - Ensembl - ENSG00000185002 - - - Genatlas - RFX6 - - - ClinVar - RFX6 - - - Reactome - Q8HWS3 - - - - - 6q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 293843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293843 - 3MC syndrome - - Malformation syndrome - - - Disorder - - - - 28301481[PMID] - - collectin subfamily member 10 - COLEC10 - - CL-L1 - CL-10 - - - gene with protein product - - - - HGNC - 2220 - - - Ensembl - ENSG00000184374 - - - OMIM - 607620 - - - SwissProt - Q9Y6Z7 - - - Genatlas - COLEC10 - - - Reactome - R-HSA-8852492 - - - ClinVar - COLEC10 - - - - - 8q24.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21258343[PMID] - - MBL associated serine protease 1 - MASP1 - - C4/C2 activating component of Ra-reactive factor - MASP - MAP-1 - Map44 - MASP-3 - mannose-binding lectin-associated serine protease 1 - - - gene with protein product - - - - ClinVar - MASP1 - - - SwissProt - P48740 - - - Ensembl - ENSG00000127241 - - - Genatlas - MASP1 - - - HGNC - 6901 - - - OMIM - 600521 - - - Reactome - P48740 - - - - - 3q27.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 21258343[PMID] - - collectin subfamily member 11 - COLEC11 - - CL-K1 - Collectin K1 - MGC3279 - CL-11 - - - gene with protein product - - - - ClinVar - COLEC11 - - - Ensembl - ENSG00000118004 - - - Genatlas - COLEC11 - - - HGNC - 17213 - - - OMIM - 612502 - - - Reactome - Q9BWP8 - - - SwissProt - Q9BWP8 - - - - - 2p25.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 293822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293822 - MITF-related melanoma and renal cell carcinoma predisposition syndrome - - Disease - - - Disorder - - - - 22480646[PMID]_22012259[PMID] - - melanocyte inducing transcription factor - MITF - - MI - bHLHe32 - homolog of mouse microphthalmia - - - gene with protein product - - - - Ensembl - ENSG00000187098 - - - Genatlas - MITF - - - HGNC - 7105 - - - OMIM - 156845 - - - Reactome - O75030 - - - SwissProt - O75030 - - - ClinVar - MITF - - - - - 3p13 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 293825 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293825 - Congenital dyserythropoietic anemia type IV - - Disease - - - Disorder - - - - - - KLF transcription factor 1 - KLF1 - - EKLF - erythroid Kruppel-like factor - - - gene with protein product - - - - Ensembl - ENSG00000105610 - - - Genatlas - KLF1 - - - HGNC - 6345 - - - OMIM - 600599 - - - SwissProt - Q13351 - - - ClinVar - KLF1 - - - - - 19p13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 293707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293707 - Blepharophimosis-intellectual disability syndrome, MKB type - - Malformation syndrome - - - Disorder - - - - 23395478[PMID] - - mediator complex subunit 12 - MED12 - - CAGH45 - HOPA - KIAA0192 - OKS - OPA1 - TRAP230 - ARC240 - Kto - Kohtalo homolog - - - gene with protein product - - - - Ensembl - ENSG00000184634 - - - Genatlas - MED12 - - - HGNC - 11957 - - - OMIM - 300188 - - - Reactome - Q93074 - - - SwissProt - Q93074 - - - ClinVar - MED12 - - - - - Xq13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 293633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633 - PYCR1-related De Barsy syndrome - - Etiological subtype - - - Subtype of disorder - - - - 22052856[PMID] - - pyrroline-5-carboxylate reductase 1 - PYCR1 - - P5C - - - gene with protein product - - - - Ensembl - ENSG00000183010 - - - Genatlas - PYCR1 - - - HGNC - 9721 - - - OMIM - 179035 - - - Reactome - P32322 - - - SwissProt - P32322 - - - ClinVar - PYCR1 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 289891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289891 - Hypermethioninemia due to glycine N-methyltransferase deficiency - - Disease - - - Disorder - - - - 19585268[PMID] - - glycine N-methyltransferase - GNMT - - - - gene with protein product - - - - Ensembl - ENSG00000124713 - - - Genatlas - GNMT - - - HGNC - 4415 - - - OMIM - 606628 - - - Reactome - Q14749 - - - SwissProt - Q14749 - - - ClinVar - GNMT - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 289863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289863 - Atypical glycine encephalopathy - - Clinical subtype - - - Subtype of disorder - - - - 27773429[PMID] - - solute carrier family 6 member 9 - SLC6A9 - - GlyT-1 - GLYT1 - Sodium- and chloride-dependent glycine transporter 1 - - - gene with protein product - - - - Genatlas - SLC6A9 - - - SwissProt - P48067 - - - HGNC - 11056 - - - Ensembl - ENSG00000196517 - - - OMIM - 601019 - - - IUPHAR - 935 - - - Reactome - P48067 - - - ClinVar - SLC6A9 - - - - - 1p34.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301531[PMID] - - aminomethyltransferase - AMT - - GCST - NKH - glycine cleavage system protein T - nonketotic hyperglycinemia - - - gene with protein product - - - - ClinVar - AMT - - - Ensembl - ENSG00000145020 - - - Genatlas - AMT - - - HGNC - 473 - - - OMIM - 238310 - - - Reactome - P48728 - - - SwissProt - P48728 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301531[PMID] - - glycine cleavage system protein H - GCSH - - lipoic acid-containing protein - - - gene with protein product - - - - ClinVar - GCSH - - - IUPHAR - 3098 - - - Ensembl - ENSG00000140905 - - - Genatlas - GCSH - - - HGNC - 4208 - - - OMIM - 238330 - - - Reactome - P23434 - - - SwissProt - P23434 - - - - - 16q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301531[PMID] - - glycine decarboxylase - GLDC - - GCSP - NKH - glycine cleavage system protein P - glycine dehydrogenase - nonketotic hyperglycinemia - - - gene with protein product - - - - Ensembl - ENSG00000178445 - - - Genatlas - GLDC - - - HGNC - 4313 - - - OMIM - 238300 - - - Reactome - P23378 - - - SwissProt - P23378 - - - ClinVar - GLDC - - - - - 9p24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 289916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289916 - Vitamin B12-unresponsive methylmalonic acidemia type mut0 - - Clinical subtype - - - Subtype of disorder - - - - 20301409[PMID] - - methylmalonyl-CoA mutase - MMUT - - Methylmalonyl-CoA mutase, mitochondrial - MCM - - - gene with protein product - - - - Ensembl - ENSG00000146085 - - - Genatlas - MUT - - - HGNC - 7526 - - - OMIM - 609058 - - - Reactome - P22033 - - - ClinVar - MUT - - - SwissProt - P22033 - - - - - 6p12.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 289857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289857 - Neonatal glycine encephalopathy - - Clinical subtype - - - Subtype of disorder - - - - 20301531[PMID] - - aminomethyltransferase - AMT - - GCST - NKH - glycine cleavage system protein T - nonketotic hyperglycinemia - - - gene with protein product - - - - ClinVar - AMT - - - Ensembl - ENSG00000145020 - - - Genatlas - AMT - - - HGNC - 473 - - - OMIM - 238310 - - - Reactome - P48728 - - - SwissProt - P48728 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301531[PMID] - - glycine cleavage system protein H - GCSH - - lipoic acid-containing protein - - - gene with protein product - - - - ClinVar - GCSH - - - IUPHAR - 3098 - - - Ensembl - ENSG00000140905 - - - Genatlas - GCSH - - - HGNC - 4208 - - - OMIM - 238330 - - - Reactome - P23434 - - - SwissProt - P23434 - - - - - 16q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301531[PMID] - - glycine decarboxylase - GLDC - - GCSP - NKH - glycine cleavage system protein P - glycine dehydrogenase - nonketotic hyperglycinemia - - - gene with protein product - - - - Ensembl - ENSG00000178445 - - - Genatlas - GLDC - - - HGNC - 4313 - - - OMIM - 238300 - - - Reactome - P23378 - - - SwissProt - P23378 - - - ClinVar - GLDC - - - - - 9p24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 289860 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289860 - Infantile glycine encephalopathy - - Clinical subtype - - - Subtype of disorder - - - - 27481395[PMID] - - solute carrier family 6 member 9 - SLC6A9 - - GlyT-1 - GLYT1 - Sodium- and chloride-dependent glycine transporter 1 - - - gene with protein product - - - - Genatlas - SLC6A9 - - - SwissProt - P48067 - - - HGNC - 11056 - - - Ensembl - ENSG00000196517 - - - OMIM - 601019 - - - IUPHAR - 935 - - - Reactome - P48067 - - - ClinVar - SLC6A9 - - - - - 1p34.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301531[PMID] - - aminomethyltransferase - AMT - - GCST - NKH - glycine cleavage system protein T - nonketotic hyperglycinemia - - - gene with protein product - - - - ClinVar - AMT - - - Ensembl - ENSG00000145020 - - - Genatlas - AMT - - - HGNC - 473 - - - OMIM - 238310 - - - Reactome - P48728 - - - SwissProt - P48728 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301531[PMID] - - glycine cleavage system protein H - GCSH - - lipoic acid-containing protein - - - gene with protein product - - - - ClinVar - GCSH - - - IUPHAR - 3098 - - - Ensembl - ENSG00000140905 - - - Genatlas - GCSH - - - HGNC - 4208 - - - OMIM - 238330 - - - Reactome - P23434 - - - SwissProt - P23434 - - - - - 16q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301531[PMID] - - glycine decarboxylase - GLDC - - GCSP - NKH - glycine cleavage system protein P - glycine dehydrogenase - nonketotic hyperglycinemia - - - gene with protein product - - - - Ensembl - ENSG00000178445 - - - Genatlas - GLDC - - - HGNC - 4313 - - - OMIM - 238300 - - - Reactome - P23378 - - - SwissProt - P23378 - - - ClinVar - GLDC - - - - - 9p24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 289846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289846 - Glutathione synthetase deficiency with 5-oxoprolinuria - - Clinical subtype - - - Subtype of disorder - - - - - - glutathione synthetase - GSS - - - - gene with protein product - - - - ClinVar - GSS - - - Ensembl - ENSG00000100983 - - - Genatlas - GSS - - - HGNC - 4624 - - - OMIM - 601002 - - - Reactome - P48637 - - - SwissProt - P48637 - - - - - 20q11.22 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 289849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289849 - Glutathione synthetase deficiency without 5-oxoprolinuria - - Clinical subtype - - - Subtype of disorder - - - - - - glutathione synthetase - GSS - - - - gene with protein product - - - - ClinVar - GSS - - - Ensembl - ENSG00000100983 - - - Genatlas - GSS - - - HGNC - 4624 - - - OMIM - 601002 - - - Reactome - P48637 - - - SwissProt - P48637 - - - - - 20q11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 289560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289560 - Mitochondrial membrane protein-associated neurodegeneration - - Disease - - - Disorder - - - - 21981780[PMID] - - chromosome 19 open reading frame 12 - C19ORF12 - - membrane protein-associated neurodegeneration - DKFZP762D096 - MGC10922 - NBIA4 - neurodegeneration with brain iron accumulation 4 - MPAN - - - gene with protein product - - - - Ensembl - ENSG00000131943 - - - Genatlas - C19orf12 - - - HGNC - 25443 - - - OMIM - 614297 - - - SwissProt - Q9NSK7 - - - ClinVar - C19orf12 - - - - - 19q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 289548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289548 - Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency - - Disease - - - Disorder - - - - 21880796[PMID] - - cytochrome P450 family 11 subfamily A member 1 - CYP11A1 - - P450SCC - cholesterol monooxygenase (side-chain-cleaving) - - - gene with protein product - - - - ClinVar - CYP11A1 - - - Ensembl - ENSG00000140459 - - - Genatlas - CYP11A1 - - - HGNC - 2590 - - - IUPHAR - 1358 - - - OMIM - 118485 - - - Reactome - P05108 - - - SwissProt - P05108 - - - - - 15q24.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 289539 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289539 - BAP1-related tumor predisposition syndrome - - Disease - - - Disorder - - - - 21956388[PMID] - - BRCA1 associated deubiquitinase 1 - BAP1 - - KIAA0272 - UCHL2 - hucep-6 - ubiquitin carboxy-terminal hydrolase L2 - - - gene with protein product - - - - Reactome - Q92560 - - - Ensembl - ENSG00000163930 - - - Genatlas - BAP1 - - - HGNC - 950 - - - IUPHAR - 2332 - - - OMIM - 603089 - - - SwissProt - Q92560 - - - ClinVar - BAP1 - - - - - 3p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 289601 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289601 - Hereditary arterial and articular multiple calcification syndrome - - Disease - - - Disorder - - - - 21288095[PMID] - - 5'-nucleotidase ecto - NT5E - - CALJA - CD73 - eN - eNT - - - gene with protein product - - - - Ensembl - ENSG00000135318 - - - Genatlas - NT5E - - - HGNC - 8021 - - - OMIM - 129190 - - - Reactome - P21589 - - - SwissProt - P21589 - - - IUPHAR - 1232 - - - ClinVar - NT5E - - - - - 6q14.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 289586 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289586 - Exfoliative ichthyosis - - Disease - - - Disorder - - - - 27476651[PMID] - - serpin family B member 8 - SERPINB8 - - CAP2 - cytoplasmic antiproteinase 2 - - - gene with protein product - - - - OMIM - 601697 - - - Genatlas - SERPINB8 - - - SwissProt - P50452 - - - Reactome - P50452 - - - Ensembl - ENSG00000166401 - - - HGNC - 8952 - - - ClinVar - SERPINB8 - - - - - 18q22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 21944047[PMID] - - cystatin A - CSTA - - stefin A - - - gene with protein product - - - - Reactome - P01040 - - - Ensembl - ENSG00000121552 - - - Genatlas - CSTA - - - HGNC - 2481 - - - OMIM - 184600 - - - SwissProt - P01040 - - - ClinVar - CSTA - - - - - 3q21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 293381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293381 - Epithelial recurrent erosion dystrophy - - Disease - - - Disorder - - - - 25676728[PMID] - - collagen type XVII alpha 1 chain - COL17A1 - - BP180 - - - gene with protein product - - - - ClinVar - COL17A1 - - - Ensembl - ENSG00000065618 - - - Genatlas - COL17A1 - - - HGNC - 2194 - - - OMIM - 113811 - - - Reactome - Q9UMD9 - - - SwissProt - Q9UMD9 - - - - - 10q25.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 293603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293603 - Congenital hereditary endothelial dystrophy type II - - Disease - - - Disorder - - - - 16767101[PMID]_24351571[PMID] - - solute carrier family 4 member 11 - SLC4A11 - - NaBC1 - dJ794I6.2 - BTR1 - FECD4 - sodium-coupled borate cotransporter 1 - bicarbonate transporter related protein 1 - - - gene with protein product - - - - Ensembl - ENSG00000088836 - - - Genatlas - SLC4A11 - - - HGNC - 16438 - - - OMIM - 610206 - - - SwissProt - Q8NBS3 - - - IUPHAR - 913 - - - ClinVar - SLC4A11 - - - - - 20p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811 - Shwachman-Diamond syndrome - - Disease - - - Disorder - - - - 20301722[PMID] - - SBDS ribosome maturation factor - SBDS - - CGI-97 - FLJ10917 - SDS - SWDS - SDO1 - - - gene with protein product - - - - ClinVar - SBDS - - - Ensembl - ENSG00000126524 - - - Genatlas - SBDS - - - HGNC - 19440 - - - OMIM - 607444 - - - SwissProt - Q9Y3A5 - - - - - 7q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28331068[PMID] - - elongation factor like GTPase 1 - EFL1 - - FAM42A - FLJ13119 - HsT19294 - RIA1 - ribosome assembly 1 homolog (yeast) - - - gene with protein product - - - - HGNC - 25789 - - - Ensembl - ENSG00000140598 - - - SwissProt - Q7Z2Z2 - - - OMIM - 617538 - - - - - 15q25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28062395[PMID] - - DnaJ heat shock protein family (Hsp40) member C21 - DNAJC21 - - DNAJA5 - GS3 - JJJ1 - JJJ1 DnaJ domain protein homolog (S. cerevisiae) - - - gene with protein product - - - - ClinVar - DNAJC21 - - - HGNC - 27030 - - - Ensembl - ENSG00000168724 - - - OMIM - 617048 - - - SwissProt - Q5F1R6 - - - Genatlas - DNAJC21 - - - - - 5p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 293150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293150 - Familial clubfoot due to PITX1 point mutation - - Etiological subtype - - - Subtype of disorder - - - - 18950742[PMID] - - paired like homeodomain 1 - PITX1 - - POTX - PTX1 - - - gene with protein product - - - - Reactome - P78337 - - - Ensembl - ENSG00000069011 - - - Genatlas - PITX1 - - - HGNC - 9004 - - - OMIM - 602149 - - - SwissProt - P78337 - - - ClinVar - PITX1 - - - - - 5q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=741 - Familial mitral valve prolapse - - Morphological anomaly - - - Disorder - - - - 26258302[PMID] - - dachsous cadherin-related 1 - DCHS1 - - CDHR6 - FIB1 - FLJ11790 - KIAA1773 - cadherin-related family member 6 - - - gene with protein product - - - - Ensembl - ENSG00000166341 - - - Genatlas - DCHS1 - - - HGNC - 13681 - - - OMIM - 603057 - - - SwissProt - Q96JQ0 - - - ClinVar - DCHS1 - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 293144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293144 - Familial clubfoot due to 5q31 microdeletion - - Etiological subtype - - - Subtype of disorder - - - - 21775501[PMID] - - paired like homeodomain 1 - PITX1 - - POTX - PTX1 - - - gene with protein product - - - - Reactome - P78337 - - - Ensembl - ENSG00000069011 - - - Genatlas - PITX1 - - - HGNC - 9004 - - - OMIM - 602149 - - - SwissProt - P78337 - - - ClinVar - PITX1 - - - - - 5q31.1 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 293168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293168 - Infantile-onset ascending hereditary spastic paralysis - - Disease - - - Disorder - - - - 24315819[PMID] - - alsin Rho guanine nucleotide exchange factor ALS2 - ALS2 - - alsin - - - gene with protein product - - - - Ensembl - ENSG00000003393 - - - Genatlas - ALS2 - - - HGNC - 443 - - - OMIM - 606352 - - - SwissProt - Q96Q42 - - - Reactome - Q96Q42 - - - ClinVar - ALS2 - - - - - 2q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 293165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293165 - Skin fragility-woolly hair-palmoplantar keratoderma syndrome - - Disease - - - Disorder - - - - 11841538[PMID] - - desmoplakin - DSP - - DPI - DPII - KPPS2 - PPKS2 - - - gene with protein product - - - - ClinVar - DSP - - - Ensembl - ENSG00000096696 - - - Genatlas - DSP - - - HGNC - 3052 - - - OMIM - 125647 - - - Reactome - P15924 - - - SwissProt - P15924 - - - - - 6p24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=428 - Autosomal dominant hypocalcemia - - Clinical subtype - - - Subtype of disorder - - - - 9920108[PMID]_12733714[PMID]_22789683[PMID] - - calcium sensing receptor - CASR - - FHH - GPRC2A - NSHPT - severe neonatal hyperparathyroidism - - - gene with protein product - - - - Ensembl - ENSG00000036828 - - - Genatlas - CASR - - - HGNC - 1514 - - - IUPHAR - 54 - - - OMIM - 601199 - - - Reactome - P41180 - - - SwissProt - P41180 - - - ClinVar - CASR - - - - - 3q13.33-q21.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 23802516[PMID] - - G protein subunit alpha 11 - GNA11 - - FBH - FBH2 - FHH2 - - - gene with protein product - - - - Reactome - P29992 - - - SwissProt - P29992 - - - Ensembl - ENSG00000088256 - - - Genatlas - GNA11 - - - HGNC - 4379 - - - OMIM - 139313 - - - ClinVar - GNA11 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 293181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293181 - Epilepsy of infancy with migrating focal seizures - - Disease - - - Disorder - - - - 31618474[PMID] - - sodium voltage-gated channel alpha subunit 2 - SCN2A - - HBSCI - HBSCII - Nav1.2 - - - gene with protein product - - - - ClinVar - SCN2A - - - Ensembl - ENSG00000136531 - - - Genatlas - SCN2A - - - HGNC - 10588 - - - IUPHAR - 579 - - - OMIM - 182390 - - - Reactome - Q99250 - - - SwissProt - Q99250 - - - - - 2q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31618474[PMID] - - potassium voltage-gated channel subfamily Q member 2 - KCNQ2 - - BFNC - ENB1 - HNSPC - KCNA11 - Kv7.2 - - - gene with protein product - - - - ClinVar - KCNQ2 - - - Ensembl - ENSG00000075043 - - - Genatlas - KCNQ2 - - - HGNC - 6296 - - - IUPHAR - 561 - - - OMIM - 602235 - - - Reactome - O43526 - - - SwissProt - O43526 - - - - - 20q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31618474[PMID] - - phosphatidylinositol glycan anchor biosynthesis class A - PIGA - - GPI3 (SPT14) homolog (S. cerevisiae) - PIG-A - Phosphatidylinositol N-acetylglucosaminyltransferase subunit A - GPI3 - paroxysmal nocturnal hemoglobinuria - - - gene with protein product - - - - Ensembl - ENSG00000165195 - - - Genatlas - PIGA - - - HGNC - 8957 - - - OMIM - 311770 - - - Reactome - P37287 - - - SwissProt - P37287 - - - ClinVar - PIGA - - - - - Xp22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21555645[PMID]_20301494[PMID] - - sodium voltage-gated channel alpha subunit 1 - SCN1A - - GEFSP2 - HBSCI - NAC1 - Nav1.1 - SMEI - - - gene with protein product - - - - ClinVar - SCN1A - - - Ensembl - ENSG00000144285 - - - Genatlas - SCN1A - - - HGNC - 10585 - - - IUPHAR - 578 - - - OMIM - 182389 - - - Reactome - P35498 - - - SwissProt - P35498 - - - - - 2q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24596948[PMID] - - solute carrier family 25 member 22 - SLC25A22 - - EIEE3 - FLJ13044 - GC1 - NET44 - GC-1 - Early infantile epileptic encephalopathy 3 - - - gene with protein product - - - - Reactome - Q9H936 - - - IUPHAR - 1058 - - - Ensembl - ENSG00000177542 - - - Genatlas - SLC25A22 - - - HGNC - 19954 - - - OMIM - 609302 - - - SwissProt - Q9H936 - - - ClinVar - SLC25A22 - - - - - 11p15.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23526554[PMID] - - TBC1 domain family member 24 - TBC1D24 - - DFNA65 - KIAA1171 - TBC/LysM-associated domain containing 6 - TLDC6 - skywalker homolog (Drosophila) - deafness, autosomal dominant 65 - - - gene with protein product - - - - ClinVar - TBC1D24 - - - Reactome - Q9ULP9 - - - Ensembl - ENSG00000162065 - - - Genatlas - TBC1D24 - - - HGNC - 29203 - - - OMIM - 613577 - - - SwissProt - Q9ULP9 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22690784[PMID] - - phospholipase C beta 1 - PLCB1 - - PLC-I - PLC154 - phosphoinositide phospholipase C - KIAA0581 - - - gene with protein product - - - - IUPHAR - 1403 - - - Ensembl - ENSG00000182621 - - - Genatlas - PLCB1 - - - HGNC - 15917 - - - OMIM - 607120 - - - Reactome - Q9NQ66 - - - SwissProt - Q9NQ66 - - - ClinVar - PLCB1 - - - - - 20p12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23086397[PMID] - - potassium sodium-activated channel subfamily T member 1 - KCNT1 - - KCa4.1 - KIAA1422 - SLACK - Sequence like a calcium-activated K+ channel - Slo2.2 - - - gene with protein product - - - - Ensembl - ENSG00000107147 - - - Genatlas - KCNT1 - - - HGNC - 18865 - - - IUPHAR - 385 - - - OMIM - 608167 - - - SwissProt - Q5JUK3 - - - ClinVar - KCNT1 - - - - - 9q34.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 26333769[PMID] - - solute carrier family 12 member 5 - SLC12A5 - - KCC2 - KIAA1176 - hKCC2 - K-Cl cotransporter 2 - - - gene with protein product - - - - ClinVar - SLC12A5 - - - Ensembl - ENSG00000124140 - - - Genatlas - SLC12A5 - - - HGNC - 13818 - - - IUPHAR - 972 - - - OMIM - 606726 - - - Reactome - Q9H2X9 - - - SwissProt - Q9H2X9 - - - - - 20q13.12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 293199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293199 - Pleomorphic rhabdomyosarcoma - - Clinical subtype - - - Subtype of disorder - - - - 7706467[PMID] - - tumor protein p53 - TP53 - - LFS1 - Li-Fraumeni syndrome - P53 - p53 - - - gene with protein product - - - - Ensembl - ENSG00000141510 - - - Genatlas - TP53 - - - HGNC - 11998 - - - OMIM - 191170 - - - Reactome - P04637 - - - SwissProt - P04637 - - - ClinVar - TP53 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34166060[PMID] - - neurofibromin 1 - NF1 - - Watson disease - neurofibromatosis - von Recklinghausen disease - - - gene with protein product - - - - Ensembl - ENSG00000196712 - - - Genatlas - NF1 - - - HGNC - 7765 - - - OMIM - 613113 - - - ClinVar - NF1 - - - Reactome - P21359 - - - SwissProt - P21359 - - - - - 17q11.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=393 - 46,XX testicular difference of sex development - - Malformation syndrome - - - Disorder - - - - 24140641[PMID] - - SRY-box transcription factor 9 - SOX9 - - SRA1 - - - gene with protein product - - - - Ensembl - ENSG00000125398 - - - Genatlas - SOX9 - - - HGNC - 11204 - - - OMIM - 608160 - - - Reactome - P48436 - - - SwissProt - P48436 - - - ClinVar - SOX9 - - - - - 17q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301589[PMID] - - sex determining region Y - SRY - - TDF - testis-determining factor - - - gene with protein product - - - - Ensembl - ENSG00000184895 - - - Genatlas - SRY - - - HGNC - 11311 - - - OMIM - 480000 - - - Reactome - Q05066 - - - SwissProt - Q05066 - - - ClinVar - SRY - - - - - Yp11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21183788[PMID]_22678921[PMID] - - SRY-box transcription factor 3 - SOX3 - - - - gene with protein product - - - - ClinVar - SOX3 - - - Ensembl - ENSG00000134595 - - - Genatlas - SOX3 - - - HGNC - 11199 - - - OMIM - 313430 - - - Reactome - P41225 - - - SwissProt - P41225 - - - - - Xq27.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 28483799[PMID] - - nuclear receptor subfamily 0 group B member 1 - NR0B1 - - AHCH - DAX1 - - - gene with protein product - - - - ClinVar - NR0B1 - - - IUPHAR - 635 - - - OMIM - 300473 - - - Reactome - P51843 - - - SwissProt - P51843 - - - Ensembl - ENSG00000169297 - - - Genatlas - NR0B1 - - - HGNC - 7960 - - - - - Xp21.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 27490115[PMID] - - nuclear receptor subfamily 5 group A member 1 - NR5A1 - - AD4BP - ELP - FTZ1 - SF-1 - hSF-1 - steroidogenic factor 1 - SF1 - - - gene with protein product - - - - ClinVar - NR5A1 - - - Ensembl - ENSG00000136931 - - - Genatlas - NR5A1 - - - HGNC - 7983 - - - IUPHAR - 632 - - - OMIM - 184757 - - - Reactome - Q13285 - - - SwissProt - Q13285 - - - - - 9q33.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 293284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293284 - Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria - - Clinical subtype - - - Subtype of disorder - - - - 12409276[PMID] - - phenylalanine hydroxylase - PAH - - PH - phenylalanine 4-monooxygenase - - - gene with protein product - - - - Ensembl - ENSG00000171759 - - - Genatlas - PAH - - - HGNC - 8582 - - - IUPHAR - 1240 - - - OMIM - 612349 - - - Reactome - P00439 - - - SwissProt - P00439 - - - ClinVar - PAH - - - - - 12q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2394 - Pyruvate dehydrogenase E3 deficiency - - Clinical subtype - - - Subtype of disorder - - - - 24777537[PMID] - - dihydrolipoamide dehydrogenase - DLD - - DLDH - E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex - E3 - pyruvate dehydrogenase complex subunit E3, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex, glycine cleavage system protein L - OGDC-E3 - - - gene with protein product - - - - Ensembl - ENSG00000091140 - - - Genatlas - DLD - - - HGNC - 2898 - - - OMIM - 238331 - - - Reactome - P09622 - - - SwissProt - P09622 - - - ClinVar - DLD - - - - - 7q31.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 2686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2686 - Cyclic neutropenia - - Disease - - - Disorder - - - - 14673143[PMID]_10581030[PMID] - - elastase, neutrophil expressed - ELANE - - HLE - HNE - NE - leukocyte elastase - medullasin - neutrophil elastase - polymorphonuclear leukocyte elastase - PMN Elastase - PMN-E - - - gene with protein product - - - - ClinVar - ELANE - - - Ensembl - ENSG00000197561 - - - Genatlas - ELANE - - - HGNC - 3309 - - - IUPHAR - 2358 - - - OMIM - 130130 - - - Reactome - P08246 - - - SwissProt - P08246 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 284414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284414 - Glycerol kinase deficiency, adult form - - Clinical subtype - - - Subtype of disorder - - - - 8651297[PMID] - - glycerol kinase - GK - - GK1 - GKD - - - gene with protein product - - - - SwissProt - P32189 - - - ClinVar - GK - - - Ensembl - ENSG00000198814 - - - Genatlas - GK - - - HGNC - 4289 - - - OMIM - 300474 - - - Reactome - P32189 - - - - - Xp21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 284417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417 - Phosphoserine aminotransferase deficiency, infantile/juvenile form - - Etiological subtype - - - Subtype of disorder - - - - 17436247[PMID] - - phosphoserine aminotransferase 1 - PSAT1 - - PSAT - PSA - phosphoserine transaminase - - - gene with protein product - - - - Ensembl - ENSG00000135069 - - - Genatlas - PSAT1 - - - HGNC - 19129 - - - OMIM - 610936 - - - Reactome - Q9Y617 - - - SwissProt - Q9Y617 - - - ClinVar - PSAT1 - - - - - 9q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 284426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284426 - Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency - - Clinical subtype - - - Subtype of disorder - - - - - - lactate dehydrogenase A - LDHA - - - - gene with protein product - - - - Ensembl - ENSG00000134333 - - - Genatlas - LDHA - - - HGNC - 6535 - - - OMIM - 150000 - - - Reactome - P00338 - - - SwissProt - P00338 - - - ClinVar - LDHA - - - - - 11p15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 284435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284435 - Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency - - Clinical subtype - - - Subtype of disorder - - - - - - lactate dehydrogenase B - LDHB - - - - gene with protein product - - - - Ensembl - ENSG00000111716 - - - Genatlas - LDHB - - - HGNC - 6541 - - - OMIM - 150100 - - - Reactome - P07195 - - - SwissProt - P07195 - - - ClinVar - LDHB - - - - - 12p12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 284973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284973 - Marfan syndrome type 2 - - Clinical subtype - - - Subtype of disorder - - - - 16799921[PMID]_18781618[PMID]_ - - transforming growth factor beta receptor 1 - TGFBR1 - - ALK5 - TBRI - TBR-i - ACVRLK4 - ALK-5 - activin A receptor type II-like kinase, 53kDa - - - gene with protein product - - - - ClinVar - TGFBR1 - - - Ensembl - ENSG00000106799 - - - Genatlas - TGFBR1 - - - HGNC - 11772 - - - IUPHAR - 1788 - - - OMIM - 190181 - - - Reactome - P36897 - - - SwissProt - P36897 - - - - - 9q22.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - transforming growth factor beta receptor 2 - TGFBR2 - - TBRII - TBR-ii - - - gene with protein product - - - - ClinVar - TGFBR2 - - - Ensembl - ENSG00000163513 - - - Genatlas - TGFBR2 - - - HGNC - 11773 - - - IUPHAR - 1795 - - - OMIM - 190182 - - - Reactome - P37173 - - - SwissProt - P37173 - - - - - 3p24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 284963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284963 - Marfan syndrome type 1 - - Clinical subtype - - - Subtype of disorder - - - - - - fibrillin 1 - FBN1 - - MASS - Marfan syndrome - OCTD - SGS - asprosin - - - gene with protein product - - - - ClinVar - FBN1 - - - Ensembl - ENSG00000166147 - - - Genatlas - FBN1 - - - HGNC - 3603 - - - OMIM - 134797 - - - Reactome - P35555 - - - SwissProt - P35555 - - - - - 15q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 284984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284984 - Aneurysm-osteoarthritis syndrome - - Disease - - - Disorder - - - - 22167769[PMID] - - SMAD family member 3 - SMAD3 - - HsT17436 - JV15-2 - - - gene with protein product - - - - Ensembl - ENSG00000166949 - - - Genatlas - SMAD3 - - - HGNC - 6769 - - - OMIM - 603109 - - - Reactome - P84022 - - - SwissProt - P84022 - - - ClinVar - SMAD3 - - - - - 15q22.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 284979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284979 - Neonatal Marfan syndrome - - Disease - - - Disorder - - - - 20132243[PMID] - - fibrillin 1 - FBN1 - - MASS - Marfan syndrome - OCTD - SGS - asprosin - - - gene with protein product - - - - ClinVar - FBN1 - - - Ensembl - ENSG00000166147 - - - Genatlas - FBN1 - - - HGNC - 3603 - - - OMIM - 134797 - - - Reactome - P35555 - - - SwissProt - P35555 - - - - - 15q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 289365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289365 - Familial vesicoureteral reflux - - Malformation syndrome - - - Disorder - - - - 23620400[PMID] - - tenascin XB - TNXB - - TNXBS - XB - XBS - TNX - HXBL - TN-X - Hexabrachion-like protein - tenascin-X - - - gene with protein product - - - - Ensembl - ENSG00000168477 - - - Genatlas - TNXB - - - HGNC - 11976 - - - OMIM - 600985 - - - Reactome - P22105 - - - SwissProt - P22105 - - - ClinVar - TNXB - - - - - 6p21.33-p21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17357069[PMID] - - roundabout guidance receptor 2 - ROBO2 - - KIAA1568 - - - gene with protein product - - - - Ensembl - ENSG00000185008 - - - Genatlas - ROBO2 - - - HGNC - 10250 - - - OMIM - 602431 - - - Reactome - Q9HCK4 - - - SwissProt - Q9HCK4 - - - ClinVar - ROBO2 - - - - - 3p12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20960469[PMID] - - SRY-box transcription factor 17 - SOX17 - - - - gene with protein product - - - - Genatlas - SOX17 - - - HGNC - 18122 - - - OMIM - 610928 - - - Reactome - Q9H6I2 - - - SwissProt - Q9H6I2 - - - Ensembl - ENSG00000164736 - - - ClinVar - SOX17 - - - - - 8q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 289377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289377 - Early-onset myopathy with fatal cardiomyopathy - - Disease - - - Disorder - - - - 17444505[PMID]_22238790[PMID] - - titin - TTN - - CMH9 - CMPD4 - FLJ32040 - LGMD2J - MYLK5 - TMD - - - gene with protein product - - - - Reactome - Q8WZ42 - - - SwissProt - Q8WZ42 - - - ClinVar - TTN - - - Ensembl - ENSG00000155657 - - - Genatlas - TTN - - - HGNC - 12403 - - - IUPHAR - 2265 - - - OMIM - 188840 - - - - - 2q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 289380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289380 - Myosclerosis - - Disease - - - Disorder - - - - 18852439[PMID] - - collagen type VI alpha 2 chain - COL6A2 - - - - gene with protein product - - - - ClinVar - COL6A2 - - - Ensembl - ENSG00000142173 - - - Genatlas - COL6A2 - - - HGNC - 2212 - - - OMIM - 120240 - - - Reactome - P12110 - - - SwissProt - P12110 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 289290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289290 - Hypermethioninemia encephalopathy due to adenosine kinase deficiency - - Disease - - - Disorder - - - - 21963049[PMID] - - adenosine kinase - ADK - - AK - Adenosine 5'-phosphotransferase - adenosine 5'-phosphotransferase - - - gene with protein product - - - - Reactome - P55263 - - - SwissProt - P55263 - - - ClinVar - ADK - - - Ensembl - ENSG00000156110 - - - Genatlas - ADK - - - HGNC - 257 - - - OMIM - 102750 - - - IUPHAR - 1231 - - - - - 10q22.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 289266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289266 - Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation - - Disease - - - Disorder - - - - 20890276[PMID] - - glutamate ionotropic receptor NMDA type subunit 2A - GRIN2A - - GluN2A - NR2A - - - gene with protein product - - - - ClinVar - GRIN2A - - - Ensembl - ENSG00000183454 - - - Genatlas - GRIN2A - - - HGNC - 4585 - - - IUPHAR - 456 - - - OMIM - 138253 - - - Reactome - Q12879 - - - SwissProt - Q12879 - - - - - 16p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 289307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289307 - Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency - - Disease - - - Disorder - - - - 21863277[PMID]_10971205[PMID] - - aldehyde dehydrogenase 6 family member A1 - ALDH6A1 - - malonate-semialdehyde dehydrogenase (acetylating) - - - gene with protein product - - - - Ensembl - ENSG00000119711 - - - Genatlas - ALDH6A1 - - - HGNC - 7179 - - - OMIM - 603178 - - - Reactome - Q02252 - - - SwissProt - Q02252 - - - ClinVar - ALDH6A1 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 289504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289504 - Combined malonic and methylmalonic acidemia - - Disease - - - Disorder - - - - 21841779[PMID] - - acyl-CoA synthetase family member 3 - ACSF3 - - malonyl-CoA synthetase - - - gene with protein product - - - - Ensembl - ENSG00000176715 - - - Genatlas - ACSF3 - - - HGNC - 27288 - - - OMIM - 614245 - - - Reactome - Q4G176 - - - SwissProt - Q4G176 - - - ClinVar - ACSF3 - - - - - 16q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 289499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289499 - Congenital cataract microcornea with corneal opacity - - Malformation syndrome - - - Disorder - - - - 21907015[PMID]_24939590[PMID] - - peroxidasin - PXDN - - D2S448 - D2S448E - KIAA0230 - MG50 - PRG2 - PXN - - - gene with protein product - - - - ClinVar - PXDN - - - Ensembl - ENSG00000130508 - - - Genatlas - PXDN - - - HGNC - 14966 - - - OMIM - 605158 - - - SwissProt - Q92626 - - - Reactome - Q92626 - - - - - 2p25.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22068589[PMID] - - atonal bHLH transcription factor 7 - ATOH7 - - Math5 - bHLHa13 - - - gene with protein product - - - - ClinVar - ATOH7 - - - Ensembl - ENSG00000179774 - - - Genatlas - ATOH7 - - - HGNC - 13907 - - - OMIM - 609875 - - - SwissProt - Q8N100 - - - - - 10q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 289513 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289513 - 12q15q21 microdeletion syndrome - - Etiological subtype - - - Subtype of disorder - - - - 31145527[PMID] - - CCR4-NOT transcription complex subunit 2 - CNOT2 - - CDC36 - NOT2H - CC chemokine receptor 4-negative regulator of transcription 2 - - - gene with protein product - - - - HGNC - 7878 - - - Ensembl - ENSG00000111596 - - - SwissProt - Q9NZN8 - - - Reactome - Q9NZN8 - - - OMIM - 604909 - - - - - 12q15 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 289465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289465 - Isolated congenital adermatoglyphia - - Disease - - - Disorder - - - - 21820097[PMID] - - SNF2 related chromatin remodeling ATPase with DExD box 1 - SMARCAD1 - - DKFZP762K2015 - DKFZp762K2015 - ETL1 - KIAA1122 - - - gene with protein product - - - - ClinVar - SMARCAD1 - - - Ensembl - ENSG00000163104 - - - Genatlas - SMARCAD1 - - - HGNC - 18398 - - - OMIM - 612761 - - - SwissProt - Q9H4L7 - - - - - 4q22.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 289478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289478 - PASH syndrome - - Disease - - - Disorder - - - - 25601011[PMID] - - nicastrin - NCSTN - - APH2 - KIAA0253 - - - gene with protein product - - - - Ensembl - ENSG00000162736 - - - Genatlas - NCSTN - - - HGNC - 17091 - - - OMIM - 605254 - - - Reactome - Q92542 - - - SwissProt - Q92542 - - - ClinVar - NCSTN - - - - - 1q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 289176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289176 - Autosomal recessive hypophosphatemic rickets - - Disease - - - Disorder - - - - - - dentin matrix acidic phosphoprotein 1 - DMP1 - - - - gene with protein product - - - - Ensembl - ENSG00000152592 - - - Genatlas - DMP1 - - - HGNC - 2932 - - - OMIM - 600980 - - - Reactome - Q13316 - - - SwissProt - Q13316 - - - ClinVar - DMP1 - - - - - 4q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - ectonucleotide pyrophosphatase/phosphodiesterase 1 - ENPP1 - - PC-1 - PCA1 - - - gene with protein product - - - - Ensembl - ENSG00000197594 - - - Genatlas - ENPP1 - - - HGNC - 3356 - - - OMIM - 173335 - - - Reactome - P22413 - - - SwissProt - P22413 - - - ClinVar - ENPP1 - - - - - 6q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 289157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289157 - Hypocalcemic vitamin D-dependent rickets - - Disease - - - Disorder - - - - - - cytochrome P450 family 27 subfamily B member 1 - CYP27B1 - - Calcidiol 1-monooxygenase - 1alpha(OH)ase - 25-Hydroxyvitamin D3 1alpha-hydroxylase - CYP1 - P450c1 - VDDR I - - - gene with protein product - - - - ClinVar - CYP27B1 - - - IUPHAR - 1370 - - - Ensembl - ENSG00000111012 - - - Genatlas - CYP27B1 - - - HGNC - 2606 - - - OMIM - 609506 - - - Reactome - O15528 - - - SwissProt - O15528 - - - - - 12q14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - cytochrome P450 family 2 subfamily R member 1 - CYP2R1 - - Vitamin D 25-hydroxylase - - - gene with protein product - - - - ClinVar - CYP2R1 - - - IUPHAR - 1333 - - - Ensembl - ENSG00000186104 - - - Genatlas - CYP2R1 - - - HGNC - 20580 - - - OMIM - 608713 - - - Reactome - Q6VVX0 - - - SwissProt - Q6VVX0 - - - - - 11p15.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 281090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281090 - Syndromic recessive X-linked ichthyosis - - Disease - - - Disorder - - - - 3165728[PMID]_10692123[PMID]_15888481[PMID]_18076704[PMID] - - steroid sulfatase - STS - - steryl-sulfatase - ARSC - arylsulfatase C - - - gene with protein product - - - - Ensembl - ENSG00000101846 - - - Genatlas - STS - - - HGNC - 11425 - - - OMIM - 300747 - - - Reactome - P08842 - - - SwissProt - P08842 - - - ClinVar - STS - - - - - Xp22.31 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 281190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281190 - Congenital reticular ichthyosiform erythroderma - - Disease - - - Disorder - - - - 25774499[PMID] - - keratin 1 - KRT1 - - KRT1A - - - gene with protein product - - - - Ensembl - ENSG00000167768 - - - Genatlas - KRT1 - - - HGNC - 6412 - - - OMIM - 139350 - - - SwissProt - P04264 - - - ClinVar - KRT1 - - - Reactome - P04264 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20798280[PMID] - - keratin 10 - KRT10 - - CK10 - K10 - cytokeratin 10 - epidermolytic hyperkeratosis - - - gene with protein product - - - - Ensembl - ENSG00000186395 - - - Genatlas - KRT10 - - - HGNC - 6413 - - - OMIM - 148080 - - - SwissProt - P13645 - - - Reactome - P13645 - - - ClinVar - KRT10 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 281201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281201 - Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome - - Disease - - - Disorder - - - - 20226437[PMID] - - proteasome maturation protein - POMP - - HSPC014 - UMP1 - proteassemblin - - - gene with protein product - - - - ClinVar - POMP - - - Ensembl - ENSG00000132963 - - - Genatlas - POMP - - - HGNC - 20330 - - - OMIM - 613386 - - - SwissProt - Q9Y244 - - - - - 13q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 281139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281139 - Annular epidermolytic ichthyosis - - Disease - - - Disorder - - - - 9856845[PMID]_9036939[PMID] - - keratin 10 - KRT10 - - CK10 - K10 - cytokeratin 10 - epidermolytic hyperkeratosis - - - gene with protein product - - - - Ensembl - ENSG00000186395 - - - Genatlas - KRT10 - - - HGNC - 6413 - - - OMIM - 148080 - - - SwissProt - P13645 - - - Reactome - P13645 - - - ClinVar - KRT10 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 10053007[PMID] - - keratin 1 - KRT1 - - KRT1A - - - gene with protein product - - - - Ensembl - ENSG00000167768 - - - Genatlas - KRT1 - - - HGNC - 6412 - - - OMIM - 139350 - - - SwissProt - P04264 - - - ClinVar - KRT1 - - - Reactome - P04264 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 281122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281122 - Self-improving collodion baby - - Disease - - - Disorder - - - - 19890349[PMID] - - arachidonate 12-lipoxygenase, 12R type - ALOX12B - - 12R-LOX - 12R-lipoxygenase - - - gene with protein product - - - - ClinVar - ALOX12B - - - Ensembl - ENSG00000179477 - - - Genatlas - ALOX12B - - - HGNC - 430 - - - OMIM - 603741 - - - Reactome - O75342 - - - SwissProt - O75342 - - - IUPHAR - 1386 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19890349[PMID] - - arachidonate epidermal lipoxygenase 3 - ALOXE3 - - E-LOX - eLOX3 - Epidermal lipoxygenase-3 - hydroperoxy icosatetraenoate isomerase - hydroperoxy icosatetraenoate dehydratase - hydroperoxide isomerase - - - gene with protein product - - - - Reactome - Q9BYJ1 - - - Ensembl - ENSG00000179148 - - - Genatlas - ALOXE3 - - - HGNC - 13743 - - - OMIM - 607206 - - - SwissProt - Q9BYJ1 - - - IUPHAR - 1390 - - - ClinVar - ALOXE3 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12542526[PMID]_19890349[PMID] - - transglutaminase 1 - TGM1 - - K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase - LI - LI1 - TGASE - TGK - - - gene with protein product - - - - ClinVar - TGM1 - - - Reactome - P22735 - - - Ensembl - ENSG00000092295 - - - Genatlas - TGM1 - - - HGNC - 11777 - - - OMIM - 190195 - - - SwissProt - P22735 - - - - - 14q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 281127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281127 - Acral self-healing collodion baby - - Disease - - - Disorder - - - - 19500103[PMID] - - transglutaminase 1 - TGM1 - - K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase - LI - LI1 - TGASE - TGK - - - gene with protein product - - - - ClinVar - TGM1 - - - Reactome - P22735 - - - Ensembl - ENSG00000092295 - - - Genatlas - TGM1 - - - HGNC - 11777 - - - OMIM - 190195 - - - SwissProt - P22735 - - - - - 14q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280628 - Familial progressive hyper- and hypopigmentation - - Disease - - - Disorder - - - - 21368769[PMID] - - KIT ligand - KITLG - - SLF - FPH2 - KL-1 - Kitl - SCF - SF - familial progressive hyperpigmentation 2 - mast cell growth factor - steel factor - stem cell factor - DFNA69 - - - gene with protein product - - - - Ensembl - ENSG00000049130 - - - Genatlas - KITLG - - - HGNC - 6343 - - - OMIM - 184745 - - - Reactome - P21583 - - - SwissProt - P21583 - - - ClinVar - KITLG - - - - - 12q21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280633 - Multiple congenital anomalies-hypotonia-seizures syndrome - - Malformation syndrome - - - Disorder - - - - 21493957[PMID] - - phosphatidylinositol glycan anchor biosynthesis class N - PIGN - - MDC4 - PIG-N - MCD4 - GPI ethanolamine phosphate transferase 1 - - - gene with protein product - - - - ClinVar - PIGN - - - Ensembl - ENSG00000197563 - - - Genatlas - PIGN - - - HGNC - 8967 - - - OMIM - 606097 - - - Reactome - O95427 - - - SwissProt - O95427 - - - - - 18q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280615 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280615 - Hemoglobinopathy Toms River - - Disease - - - Disorder - - - - 21561349[PMID] - - hemoglobin subunit gamma 2 - HBG2 - - HBG-T1 - fetal hemoglobin F subunit gamma 2 - - - gene with protein product - - - - Ensembl - ENSG00000196565 - - - Genatlas - HBG2 - - - HGNC - 4832 - - - OMIM - 142250 - - - Reactome - P69892 - - - SwissProt - P69892 - - - ClinVar - HBG2 - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280598 - Hereditary sensorimotor neuropathy with hyperelastic skin - - Disease - - - Disorder - - - - 21576112[PMID] - - fibulin 5 - FBLN5 - - ARMD3 - DANCE - EVEC - UP50 - developmental arteries and neural crest EGF-like - embryonic vascular EGF-like repeat-containing protein - - - gene with protein product - - - - ClinVar - FBLN5 - - - Ensembl - ENSG00000140092 - - - Genatlas - FBLN5 - - - HGNC - 3602 - - - OMIM - 604580 - - - Reactome - Q9UBX5 - - - SwissProt - Q9UBX5 - - - - - 14q32.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280620 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280620 - Progressive myoclonic epilepsy type 6 - - Disease - - - Disorder - - - - 21549339[PMID] - - golgi SNAP receptor complex member 2 - GOSR2 - - Bos1 - GS27 - - - gene with protein product - - - - ClinVar - GOSR2 - - - Ensembl - ENSG00000108433 - - - Genatlas - GOSR2 - - - HGNC - 4431 - - - OMIM - 604027 - - - Reactome - O14653 - - - SwissProt - O14653 - - - - - 17q21.32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 280671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280671 - Megaconial congenital muscular dystrophy - - Disease - - - Disorder - - - - 21665002[PMID]_22782513[PMID] - - choline kinase beta - CHKB - - CHETK - - - gene with protein product - - - - ClinVar - CHKB - - - Ensembl - ENSG00000100288 - - - Genatlas - CHKB - - - HGNC - 1938 - - - OMIM - 612395 - - - Reactome - Q9Y259 - - - SwissProt - Q9Y259 - - - - - 22q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280640 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280640 - Occipital pachygyria and polymicrogyria - - Malformation syndrome - - - Disorder - - - - 21572413[PMID] - - laminin subunit gamma 3 - LAMC3 - - DKFZp434E202 - - - gene with protein product - - - - ClinVar - LAMC3 - - - Ensembl - ENSG00000050555 - - - Genatlas - LAMC3 - - - HGNC - 6494 - - - OMIM - 604349 - - - Reactome - Q9Y6N6 - - - SwissProt - Q9Y6N6 - - - - - 9q34.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280654 - Autosomal recessive nail dysplasia - - Disease - - - Disorder - - - - 21665003[PMID] - - frizzled class receptor 6 - FZD6 - - Hfz6 - - - gene with protein product - - - - ClinVar - FZD6 - - - Ensembl - ENSG00000164930 - - - Genatlas - FZD6 - - - HGNC - 4044 - - - IUPHAR - 234 - - - OMIM - 603409 - - - Reactome - O60353 - - - SwissProt - O60353 - - - - - 8q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280785 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280785 - Bullous diffuse cutaneous mastocytosis - - Clinical subtype - - - Subtype of disorder - - - - 15173254[PMID] - - KIT proto-oncogene, receptor tyrosine kinase - KIT - - C-Kit - CD117 - SCFR - mast/stem cell growth factor receptor Kit - - - gene with protein product - - - - ClinVar - KIT - - - Ensembl - ENSG00000157404 - - - Genatlas - KIT - - - HGNC - 6342 - - - IUPHAR - 1805 - - - OMIM - 164920 - - - Reactome - P10721 - - - SwissProt - P10721 - - - - - 4q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280794 - Pseudoxanthomatous diffuse cutaneous mastocytosis - - Clinical subtype - - - Subtype of disorder - - - - 15173254[PMID] - - KIT proto-oncogene, receptor tyrosine kinase - KIT - - C-Kit - CD117 - SCFR - mast/stem cell growth factor receptor Kit - - - gene with protein product - - - - ClinVar - KIT - - - Ensembl - ENSG00000157404 - - - Genatlas - KIT - - - HGNC - 6342 - - - IUPHAR - 1805 - - - OMIM - 164920 - - - Reactome - P10721 - - - SwissProt - P10721 - - - - - 4q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 280679 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280679 - Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome - - Disease - - - Disorder - - - - 21596366[PMID] - - BRCA1/BRCA2-containing complex subunit 3 - BRCC3 - - BRCC36 - C6.1A - Lys-63-specific deubiquitinase - - - gene with protein product - - - - Ensembl - ENSG00000185515 - - - Genatlas - BRCC3 - - - HGNC - 24185 - - - OMIM - 300617 - - - Reactome - P46736 - - - SwissProt - P46736 - - - ClinVar - BRCC3 - - - - - Xq28 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 280763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280763 - Severe intellectual disability and progressive spastic paraplegia - - Disease - - - Disorder - - - - 19559397[PMID] - - adaptor related protein complex 4 subunit mu 1 - AP4M1 - - AP-4 adapter complex mu subunit - MU-4 - MU-ARP2 - SPG50 - adaptor-related protein complex AP-4 mu4 subunit - mu subunit of AP-4 - mu-adaptin-related protein-2 - - - gene with protein product - - - - ClinVar - AP4M1 - - - Ensembl - ENSG00000221838 - - - Genatlas - AP4M1 - - - HGNC - 574 - - - OMIM - 602296 - - - Reactome - O00189 - - - SwissProt - O00189 - - - - - 7q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20972249[PMID]_21620353[PMID] - - adaptor related protein complex 4 subunit epsilon 1 - AP4E1 - - AP-4-EPSILON - SPG51 - - - gene with protein product - - - - ClinVar - AP4E1 - - - Ensembl - ENSG00000081014 - - - Genatlas - AP4E1 - - - HGNC - 573 - - - OMIM - 607244 - - - Reactome - Q9UPM8 - - - SwissProt - Q9UPM8 - - - - - 15q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22290197[PMID]_21620353[PMID] - - adaptor related protein complex 4 subunit beta 1 - AP4B1 - - AP-4 complex subunit beta-1 - BETA-4 - beta 4 subunit of AP-4 - - - gene with protein product - - - - Ensembl - ENSG00000134262 - - - Genatlas - AP4B1 - - - HGNC - 572 - - - OMIM - 607245 - - - Reactome - Q9Y6B7 - - - SwissProt - Q9Y6B7 - - - ClinVar - AP4B1 - - - - - 1p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21620353[PMID] - - adaptor related protein complex 4 subunit sigma 1 - AP4S1 - - AP47B - CLA20 - SPG52 - - - gene with protein product - - - - ClinVar - AP4S1 - - - Genatlas - AP4S1 - - - HGNC - 575 - - - OMIM - 607243 - - - Reactome - Q9Y587 - - - SwissProt - Q9Y587 - - - Ensembl - ENSG00000100478 - - - - - 14q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 284149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284149 - Craniosynostosis-dental anomalies - - Malformation syndrome - - - Disorder - - - - 21741611[PMID] - - interleukin 11 receptor subunit alpha - IL11RA - - - - gene with protein product - - - - ClinVar - IL11RA - - - Ensembl - ENSG00000137070 - - - Genatlas - IL11RA - - - HGNC - 5967 - - - IUPHAR - 1709 - - - OMIM - 600939 - - - Reactome - Q14626 - - - SwissProt - Q14626 - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 284139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284139 - Larsen-like syndrome, B3GAT3 type - - Malformation syndrome - - - Disorder - - - - 21763480[PMID] - - beta-1,3-glucuronyltransferase 3 - B3GAT3 - - GlcAT-I - galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 - glucuronosyltransferase I - - - gene with protein product - - - - Ensembl - ENSG00000149541 - - - Genatlas - B3GAT3 - - - HGNC - 923 - - - OMIM - 606374 - - - Reactome - O94766 - - - SwissProt - O94766 - - - ClinVar - B3GAT3 - - - - - 11q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 284169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284169 - Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion - - Clinical subtype - - - Subtype of disorder - - - - 21522184[PMID]_26264232[PMID] - - WW domain containing adaptor with coiled-coil - WAC - - MGC10753 - Wwp4 - FLJ31290 - BM-016 - PRO1741 - - - gene with protein product - - - - Ensembl - ENSG00000095787 - - - Reactome - Q9BTA9 - - - HGNC - 17327 - - - SwissProt - Q9BTA9 - - - ClinVar - WAC - - - OMIM - 615049 - - - Genatlas - WAC - - - - - 10p12.1 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 284247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284247 - Familial retinal arterial macroaneurysm - - Malformation syndrome - - - Disorder - - - - 21835307[PMID] - - insulin like growth factor binding protein 7 - IGFBP7 - - FSTL2 - IGFBP-7 - MAC25 - PSF - - - gene with protein product - - - - ClinVar - IGFBP7 - - - Ensembl - ENSG00000163453 - - - Genatlas - IGFBP7 - - - HGNC - 5476 - - - OMIM - 602867 - - - Reactome - Q16270 - - - SwissProt - Q16270 - - - - - 4q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 284232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284232 - Autosomal dominant Charcot-Marie-Tooth disease type 2O - - Disease - - - Disorder - - - - 20301462[PMID]_21820100[PMID] - - dynein cytoplasmic 1 heavy chain 1 - DYNC1H1 - - CMT2O - DHC1 - Dnchc1 - HL-3 - p22 - - - gene with protein product - - - - Ensembl - ENSG00000197102 - - - Genatlas - DYNC1H1 - - - HGNC - 2961 - - - OMIM - 600112 - - - Reactome - Q14204 - - - SwissProt - Q14204 - - - ClinVar - DYNC1H1 - - - - - 14q32.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 284271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284271 - Autosomal recessive cerebellar ataxia-psychomotor delay syndrome - - Disease - - - Disorder - - - - 21835308[PMID] - - synaptotagmin 14 - SYT14 - - FLJ34198 - sytXIV - - - gene with protein product - - - - ClinVar - SYT14 - - - Ensembl - ENSG00000143469 - - - Genatlas - SYT14 - - - HGNC - 23143 - - - OMIM - 610949 - - - SwissProt - Q8NB59 - - - - - 1q32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 284324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284324 - Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia - - Disease - - - Disorder - - - - 23418007[PMID] - - tripeptidyl peptidase 1 - TPP1 - - TPP I - LPIC - lysosomal pepstatin-insensitive carboxypeptidase - TPP-1 - - - gene with protein product - - - - SwissProt - O14773 - - - Ensembl - ENSG00000166340 - - - Genatlas - TPP1 - - - HGNC - 2073 - - - OMIM - 607998 - - - Reactome - O14773 - - - ClinVar - TPP1 - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 284282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284282 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency - - Disease - - - Disorder - - - - 24369382[PMID] - - WW domain containing oxidoreductase - WWOX - - WOX1 - short chain dehydrogenase/reductase family 41C, member 1 - FOR - SDR41C1 - - - gene with protein product - - - - Ensembl - ENSG00000186153 - - - Genatlas - WWOX - - - HGNC - 12799 - - - OMIM - 605131 - - - Reactome - Q9NZC7 - - - SwissProt - Q9NZC7 - - - ClinVar - WWOX - - - - - 16q23.1-q23.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 284289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284289 - Adult-onset autosomal recessive cerebellar ataxia - - Disease - - - Disorder - - - - 21092923[PMID] - - anoctamin 10 - ANO10 - - FLJ10375 - MGC47890 - SCAR10 - - - gene with protein product - - - - ClinVar - ANO10 - - - HGNC - 25519 - - - OMIM - 613726 - - - Reactome - Q9NW15 - - - SwissProt - Q9NW15 - - - Ensembl - ENSG00000160746 - - - Genatlas - ANO10 - - - - - 3p22.1-p21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 284343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284343 - DICER1 tumor-predisposition syndrome - - Disease - - - Disorder - - - - 21266384[PMID]_24761742[PMID] - - dicer 1, ribonuclease III - DICER1 - - Dicer - HERNA - K12H4.8-LIKE - KIAA0928 - dicer 1, double-stranded RNA-specific endoribonuclease - - - gene with protein product - - - - ClinVar - DICER1 - - - Ensembl - ENSG00000100697 - - - Genatlas - DICER1 - - - HGNC - 17098 - - - OMIM - 606241 - - - Reactome - Q9UPY3 - - - SwissProt - Q9UPY3 - - - - - 14q32.13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 284339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284339 - Pontocerebellar hypoplasia type 7 - - Malformation syndrome - - - Disorder - - - - 28092684[PMID] - - target of EGR1, exonuclease - TOE1 - - hCaf1z - TOE-1 - - - gene with protein product - - - - Reactome - Q96GM8 - - - HGNC - 15954 - - - Ensembl - ENSG00000132773 - - - SwissProt - Q96GM8 - - - OMIM - 613931 - - - Genatlas - TOE1 - - - ClinVar - TOE1 - - - - - 1p34.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 33168985[PMID] - - multiple inositol-polyphosphate phosphatase 1 - MINPP1 - - MIPP - - - gene with protein product - - - - HGNC - 7102 - - - Ensembl - ENSG00000107789 - - - OMIM - 605391 - - - Genatlas - MINPP1 - - - Reactome - Q9UNW1 - - - SwissProt - Q9UNW1 - - - ClinVar - MINPP1 - - - - - 10q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 284411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284411 - Glycerol kinase deficiency, juvenile form - - Clinical subtype - - - Subtype of disorder - - - - 8651297[PMID] - - glycerol kinase - GK - - GK1 - GKD - - - gene with protein product - - - - SwissProt - P32189 - - - ClinVar - GK - - - Ensembl - ENSG00000198814 - - - Genatlas - GK - - - HGNC - 4289 - - - OMIM - 300474 - - - Reactome - P32189 - - - - - Xp21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 282166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282166 - Inherited Creutzfeldt-Jakob disease - - Disease - - - Disorder - - - - 10790216[PMID]_20301407[PMID] - - prion protein (Kanno blood group) - PRNP - - AltPrP - CD230 - Creutzfeldt-Jakob disease - Gerstmann-Strausler-Scheinker syndrome - PRP - fatal familial insomnia - p27-30 - - - gene with protein product - - - - ClinVar - PRNP - - - Ensembl - ENSG00000171867 - - - Genatlas - PRNP - - - HGNC - 9449 - - - OMIM - 176640 - - - Reactome - P04156 - - - SwissProt - P04156 - - - - - 20p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 309854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309854 - Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome - - Disease - - - Disorder - - - - 22341972[PMID] - - solute carrier family 30 member 10 - SLC30A10 - - DKFZp547M236 - ZNT8 - ZRC1 - Zinc transporter 8 - ZnT-10 - zinc resistance conferring homolog (S. cerevisiae) - zinc transporter 10 - ZNT10 - zinc transporter 8 - - - gene with protein product - - - - ClinVar - SLC30A10 - - - Ensembl - ENSG00000196660 - - - Genatlas - SLC30A10 - - - HGNC - 25355 - - - OMIM - 611146 - - - SwissProt - Q6XR72 - - - Reactome - Q6XR72 - - - IUPHAR - 1130 - - - - - 1q41 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 309803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309803 - Rhizomelic chondrodysplasia punctata type 3 - - Etiological subtype - - - Subtype of disorder - - - - 21990100[PMID] - - alkylglycerone phosphate synthase - AGPS - - ADAP-S - ADAS - ADHAPS - ADPS - ALDHPSY - Alkyldihydroxyacetonephosphate synthase, peroxisomal - - - gene with protein product - - - - Ensembl - ENSG00000018510 - - - Genatlas - AGPS - - - HGNC - 327 - - - OMIM - 603051 - - - Reactome - O00116 - - - SwissProt - O00116 - - - ClinVar - AGPS - - - - - 2q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 309789 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309789 - Rhizomelic chondrodysplasia punctata type 1 - - Etiological subtype - - - Subtype of disorder - - - - 21990100[PMID] - - peroxisomal biogenesis factor 7 - PEX7 - - PTS2R - RD - Refsum disease - - - gene with protein product - - - - Genatlas - PEX7 - - - HGNC - 8860 - - - OMIM - 601757 - - - SwissProt - O00628 - - - Ensembl - ENSG00000112357 - - - ClinVar - PEX7 - - - - - 6q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 309796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309796 - Rhizomelic chondrodysplasia punctata type 2 - - Etiological subtype - - - Subtype of disorder - - - - 21990100[PMID] - - glyceronephosphate O-acyltransferase - GNPAT - - DAP-AT - DAPAT - DHAPAT - dihydroxyacetone phosphate acyltransferase - glycerone-phosphate O-acyltransferase - - - gene with protein product - - - - ClinVar - GNPAT - - - Ensembl - ENSG00000116906 - - - Genatlas - GNPAT - - - HGNC - 4416 - - - OMIM - 602744 - - - Reactome - O15228 - - - SwissProt - O15228 - - - - - 1q42.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 314029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314029 - High bone mass osteogenesis imperfecta - - Disease - - - Disorder - - - - 21344539[PMID] - - collagen type I alpha 1 chain - COL1A1 - - OI4 - - - gene with protein product - - - - ClinVar - COL1A1 - - - Ensembl - ENSG00000108821 - - - Genatlas - COL1A1 - - - HGNC - 2197 - - - OMIM - 120150 - - - Reactome - P02452 - - - SwissProt - P02452 - - - - - 17q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21344539[PMID] - - collagen type I alpha 2 chain - COL1A2 - - alpha 2(I)-collagen - alpha-2 collagen type I - collagen I, alpha-2 polypeptide - collagen of skin, tendon and bone, alpha-2 chain - type I procollagen - - - gene with protein product - - - - ClinVar - COL1A2 - - - OMIM - 120160 - - - Reactome - P08123 - - - SwissProt - P08123 - - - Ensembl - ENSG00000164692 - - - Genatlas - COL1A2 - - - HGNC - 2198 - - - - - 7q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27264419[PMID]_22482805[PMID - - bone morphogenetic protein 1 - BMP1 - - BMP-1 - tolloid-like - - - gene with protein product - - - - Ensembl - ENSG00000168487 - - - Genatlas - BMP1 - - - HGNC - 1067 - - - IUPHAR - 2333 - - - OMIM - 112264 - - - Reactome - P13497 - - - SwissProt - P13497 - - - ClinVar - BMP1 - - - - - 8p21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 314022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314022 - Gastric adenocarcinoma and proximal polyposis of the stomach - - Disease - - - Disorder - - - - 27087319[PMID] - - APC regulator of WNT signaling pathway - APC - - DP2 - DP2.5 - DP3 - PPP1R46 - protein phosphatase 1, regulatory subunit 46 - - - gene with protein product - - - - Ensembl - ENSG00000134982 - - - Genatlas - APC - - - HGNC - 583 - - - OMIM - 611731 - - - Reactome - P25054 - - - SwissProt - P25054 - - - ClinVar - APC - - - - - 5q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 313892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313892 - Developmental and speech delay due to SOX5 deficiency - - Clinical subtype - - - Subtype of disorder - - - - 22290657[PMID] - - SRY-box transcription factor 5 - SOX5 - - L-SOX5 - MGC35153 - - - gene with protein product - - - - Reactome - P35711 - - - Ensembl - ENSG00000134532 - - - Genatlas - SOX5 - - - HGNC - 11201 - - - OMIM - 604975 - - - SwissProt - P35711 - - - ClinVar - SOX5 - - - - - 12p12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 313884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313884 - 12p12.1 microdeletion syndrome - - Clinical subtype - - - Subtype of disorder - - - - 22290657[PMID] - - SRY-box transcription factor 5 - SOX5 - - L-SOX5 - MGC35153 - - - gene with protein product - - - - Reactome - P35711 - - - Ensembl - ENSG00000134532 - - - Genatlas - SOX5 - - - HGNC - 11201 - - - OMIM - 604975 - - - SwissProt - P35711 - - - ClinVar - SOX5 - - - - - 12p12.1 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 313855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313855 - FGFR2-related bent bone dysplasia - - Disease - - - Disorder - - - - 22387015[PMID] - - fibroblast growth factor receptor 2 - FGFR2 - - CD332 - CEK3 - Crouzon syndrome - ECT1 - K-SAM - Pfeiffer syndrome - TK14 - TK25 - - - gene with protein product - - - - Ensembl - ENSG00000066468 - - - Genatlas - FGFR2 - - - HGNC - 3689 - - - IUPHAR - 1809 - - - OMIM - 176943 - - - Reactome - P21802 - - - SwissProt - P21802 - - - ClinVar - FGFR2 - - - - - 10q26.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 313850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850 - Infantile cerebellar-retinal degeneration - - Disease - - - Disorder - - - - 22405087[PMID] - - aconitase 2 - ACO2 - - ACONM - aconitate hydratase, mitochondrial - mitochondrial aconitase - - - gene with protein product - - - - Ensembl - ENSG00000100412 - - - Genatlas - ACO2 - - - HGNC - 118 - - - OMIM - 100850 - - - Reactome - Q99798 - - - SwissProt - Q99798 - - - ClinVar - ACO2 - - - - - 22q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 313846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313846 - Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome - - Disease - - - Disorder - - - - 22341969[PMID] - - ATR checkpoint kinase - ATR - - FRP1 - MEC1 - MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae) - SCKL - SCKL1 - - - gene with protein product - - - - Ensembl - ENSG00000175054 - - - Genatlas - ATR - - - HGNC - 882 - - - IUPHAR - 1935 - - - OMIM - 601215 - - - Reactome - Q13535 - - - SwissProt - Q13535 - - - ClinVar - ATR - - - - - 3q23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 313838 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313838 - Coats plus syndrome - - Disease - - - Disorder - - - - 22267198[PMID] - - CST telomere replication complex component 1 - CTC1 - - conserved telomere maintenance component 1 - conserved telomere capping protein 1 - AAF132 - FLJ22170 - alpha accessory factor 132 - - - gene with protein product - - - - Ensembl - ENSG00000178971 - - - Genatlas - CTC1 - - - HGNC - 26169 - - - OMIM - 613129 - - - SwissProt - Q2NKJ3 - - - ClinVar - CTC1 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25957586[PMID] - - STN1 subunit of CST complex - STN1 - - FLJ22559 - bA541N10.2 - - - gene with protein product - - - - Reactome - Q9H668 - - - ClinVar - OBFC1 - - - Ensembl - ENSG00000107960 - - - Genatlas - OBFC1 - - - HGNC - 26200 - - - OMIM - 613128 - - - SwissProt - Q9H668 - - - - - 10q24.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 313800 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313800 - Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome - - Disease - - - Disorder - - - - 30967659[PMID] - - alpha kinase 1 - ALPK1 - - lymphocyte alpha-kinase - FLJ22670 - KIAA1527 - Lak - - - gene with protein product - - - - HGNC - 20917 - - - Ensembl - ENSG00000073331 - - - OMIM - 607347 - - - SwissProt - Q96QP1 - - - IUPHAR - 1930 - - - - - 4q25 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 313808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313808 - Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia - - Disease - - - Disorder - - - - 27749956[PMID] - - alanyl-tRNA synthetase 2, mitochondrial - AARS2 - - bA444E17.1 - KIAA1270 - alanine tRNA ligase 2, mitochondrial - - - gene with protein product - - - - Ensembl - ENSG00000124608 - - - Genatlas - AARS2 - - - HGNC - 21022 - - - OMIM - 612035 - - - Reactome - Q5JTZ9 - - - SwissProt - Q5JTZ9 - - - ClinVar - AARS2 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22197934[PMID] - - colony stimulating factor 1 receptor - CSF1R - - C-FMS - CD115 - CSFR - - - gene with protein product - - - - Reactome - P07333 - - - Ensembl - ENSG00000182578 - - - Genatlas - CSF1R - - - HGNC - 2433 - - - IUPHAR - 1806 - - - OMIM - 164770 - - - SwissProt - P07333 - - - ClinVar - CSF1R - - - - - 5q32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 313795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313795 - Jawad syndrome - - Malformation syndrome - - - Disorder - - - - - - RB binding protein 8, endonuclease - RBBP8 - - COM1 - CTBP-interacting protein - CtIP - RIM - - - gene with protein product - - - - SwissProt - Q99708 - - - Ensembl - ENSG00000101773 - - - Genatlas - RBBP8 - - - HGNC - 9891 - - - OMIM - 604124 - - - Reactome - Q99708 - - - ClinVar - RBBP8 - - - - - 18q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 313772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313772 - Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome - - Disease - - - Disorder - - - - 22022284[PMID] - - AFG3 like matrix AAA peptidase subunit 2 - AFG3L2 - - SPAX5 - - - gene with protein product - - - - Reactome - Q9Y4W6 - - - Ensembl - ENSG00000141385 - - - Genatlas - AFG3L2 - - - HGNC - 315 - - - OMIM - 604581 - - - SwissProt - Q9Y4W6 - - - ClinVar - AFG3L2 - - - - - 18p11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 314603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314603 - Autosomal recessive spastic ataxia with leukoencephalopathy - - Disease - - - Disorder - - - - 22448145[PMID] - - methionyl-tRNA synthetase 2, mitochondrial - MARS2 - - Methionine tRNA ligase 2, mitochondrial - SPAX3 - mtMetRS - methionine tRNA ligase 2, mitochondrial - - - gene with protein product - - - - Ensembl - ENSG00000247626 - - - Genatlas - MARS2 - - - HGNC - 25133 - - - OMIM - 609728 - - - Reactome - Q96GW9 - - - SwissProt - Q96GW9 - - - ClinVar - mars-02 - - - - - 2q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 314597 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314597 - Chudley-McCullough syndrome - - Malformation syndrome - - - Disorder - - - - 22578326[PMID] - - G protein signaling modulator 2 - GPSM2 - - LGN - Pins - - - gene with protein product - - - - Reactome - P81274 - - - ClinVar - GPSM2 - - - SwissProt - P81274 - - - Ensembl - ENSG00000121957 - - - Genatlas - GPSM2 - - - HGNC - 29501 - - - OMIM - 609245 - - - - - 1p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 314485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314485 - Young adult-onset distal hereditary motor neuropathy - - Disease - - - Disorder - - - - 22522442[PMID] - - DnaJ heat shock protein family (Hsp40) member B2 - DNAJB2 - - CMT2T - HSPF3 - - - gene with protein product - - - - Ensembl - ENSG00000135924 - - - Genatlas - DNAJB2 - - - HGNC - 5228 - - - OMIM - 604139 - - - SwissProt - P25686 - - - ClinVar - DNAJB2 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 33559681[PMID] - - von Willebrand factor A domain containing 1 - VWA1 - - WARP - VWA-1 - FLJ22215 - - - gene with protein product - - - - SwissProt - Q6PCB0 - - - OMIM - 611901 - - - Ensembl - ENSG00000179403 - - - HGNC - 30910 - - - - - 1p36.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 314555 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314555 - Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome - - Malformation syndrome - - - Disorder - - - - 22581230[PMID] - - iroquois homeobox 5 - IRX5 - - IRX-2a - - - gene with protein product - - - - Genatlas - IRX5 - - - HGNC - 14361 - - - OMIM - 606195 - - - SwissProt - P78411 - - - Ensembl - ENSG00000176842 - - - ClinVar - IRX5 - - - - - 16q12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 314394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314394 - Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome - - Disease - - - Disorder - - - - 22840363[PMID]_22840364[PMID] - - POC1 centriolar protein A - POC1A - - DKFZP434C245 - - - gene with protein product - - - - Ensembl - ENSG00000164087 - - - Genatlas - POC1A - - - HGNC - 24488 - - - OMIM - 614783 - - - SwissProt - Q8NBT0 - - - ClinVar - POC1A - - - Reactome - Q8NBT0 - - - - - 3p21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 314399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314399 - Autosomal dominant aplasia and myelodysplasia - - Disease - - - Disorder - - - - 22541560[PMID] - - signal recognition particle 72 - SRP72 - - - - gene with protein product - - - - Ensembl - ENSG00000174780 - - - Genatlas - SRP72 - - - HGNC - 11303 - - - OMIM - 602122 - - - Reactome - O76094 - - - SwissProt - O76094 - - - ClinVar - SRP72 - - - - - 4q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 314404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314404 - Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome - - Disease - - - Disorder - - - - 22328086[PMID] - - DNA methyltransferase 1 - DNMT1 - - CXXC9 - MCMT - - - gene with protein product - - - - ClinVar - DNMT1 - - - Ensembl - ENSG00000130816 - - - Genatlas - DNMT1 - - - HGNC - 2976 - - - IUPHAR - 2605 - - - OMIM - 126375 - - - Reactome - P26358 - - - SwissProt - P26358 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 314373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314373 - Chronic infantile diarrhea due to guanylate cyclase 2C overactivity - - Disease - - - Disorder - - - - 22436048[PMID] - - guanylate cyclase 2C - GUCY2C - - HSER - Guanylyl cyclase C - GCC - GC-C - STA receptor - STAR - heat stable enterotoxin receptor - - - gene with protein product - - - - Ensembl - ENSG00000070019 - - - Genatlas - GUCY2C - - - HGNC - 4688 - - - IUPHAR - 1750 - - - OMIM - 601330 - - - SwissProt - P25092 - - - ClinVar - GUCY2C - - - Reactome - P25092 - - - - - 12p12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 314376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314376 - Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency - - Disease - - - Disorder - - - - 22521417[PMID] - - guanylate cyclase 2C - GUCY2C - - HSER - Guanylyl cyclase C - GCC - GC-C - STA receptor - STAR - heat stable enterotoxin receptor - - - gene with protein product - - - - Ensembl - ENSG00000070019 - - - Genatlas - GUCY2C - - - HGNC - 4688 - - - IUPHAR - 1750 - - - OMIM - 601330 - - - SwissProt - P25092 - - - ClinVar - GUCY2C - - - Reactome - P25092 - - - - - 12p12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 314381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314381 - Hereditary sensory and autonomic neuropathy type 6 - - Disease - - - Disorder - - - - 22522446[PMID] - - dystonin - DST - - BP240 - BPA - CATX-15 - FLJ13425 - FLJ21489 - FLJ30627 - FLJ32235 - KIAA0728 - MACF2 - - - gene with protein product - - - - Ensembl - ENSG00000151914 - - - Genatlas - DST - - - HGNC - 1090 - - - OMIM - 113810 - - - Reactome - Q03001 - - - SwissProt - Q03001 - - - ClinVar - DST - - - - - 6p12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 314051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314051 - Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome - - Disease - - - Disorder - - - - 22492562[PMID]_24501781[PMID] - - glutamyl-tRNA synthetase 2, mitochondrial - EARS2 - - KIAA1970 - MSE1 - glutamate tRNA ligase 2, mitochondrial - mtGlnRS - - - gene with protein product - - - - Reactome - Q5JPH6 - - - SwissProt - Q5JPH6 - - - Ensembl - ENSG00000103356 - - - Genatlas - EARS2 - - - HGNC - 29419 - - - OMIM - 612799 - - - ClinVar - EARS2 - - - - - 16p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 306674 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306674 - Kufor-Rakeb syndrome - - Disease - - - Disorder - - - - 2276817[PMID]_22166458[PMID] - - ATPase cation transporting 13A2 - ATP13A2 - - CLN12 - HSA9947 - - - gene with protein product - - - - IUPHAR - 3156 - - - ClinVar - ATP13A2 - - - Ensembl - ENSG00000159363 - - - Genatlas - ATP13A2 - - - HGNC - 30213 - - - OMIM - 610513 - - - Reactome - Q9NQ11 - - - SwissProt - Q9NQ11 - - - - - 1p36.13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 306734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306734 - Primary dystonia, DYT21 type - - Disease - - - Disorder - - - - 21301909[PMID] - - dystonia 21, torsion (autosomal dominant) - DYT21 - - - - Disorder-associated locus - - - - HGNC - 39436 - - - Ensembl - - - - OMIM - - - - SwissProt - - - - - - 2q14.3-q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 308380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308380 - Methylcobalamin deficiency type cblDv1 - - Clinical subtype - - - Subtype of disorder - - - - 18385497[PMID] - - metabolism of cobalamin associated D - MMADHC - - CL25022 - cblD - - - gene with protein product - - - - Ensembl - ENSG00000168288 - - - Genatlas - MMADHC - - - HGNC - 25221 - - - OMIM - 611935 - - - Reactome - Q9H3L0 - - - SwissProt - Q9H3L0 - - - ClinVar - MMADHC - - - - - 2q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 308386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308386 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A - - Etiological subtype - - - Subtype of disorder - - - - - - molybdenum cofactor synthesis 1 - MOCS1 - - MOCOD - MOCS1A - MOCS1B - - - gene with protein product - - - - Ensembl - ENSG00000124615 - - - Genatlas - MOCS1 - - - HGNC - 7190 - - - OMIM - 603707 - - - Reactome - Q9NZB8 - - - SwissProt - Q9NZB8 - - - ClinVar - MOCS1 - - - - - 6p21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 308393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308393 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B - - Etiological subtype - - - Subtype of disorder - - - - - - molybdenum cofactor synthesis 2 - MOCS2 - - MOCO1 - MOCS2B - MOCS2A - molybdopterin synthase large subunit - molybdopterin synthase small subunit - molybdopterin synthase catalytic subunit - - - gene with protein product - - - - SwissProt - O96007 - - - Ensembl - ENSG00000164172 - - - Genatlas - MOCS2 - - - HGNC - 7193 - - - OMIM - 603708 - - - Reactome - O96007 - - - ClinVar - MOCS2 - - - Reactome - O96033 - - - SwissProt - O96033 - - - - - 5q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 308400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308400 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C - - Etiological subtype - - - Subtype of disorder - - - - - - gephyrin - GPHN - - GEPH - KIAA1385 - GPH - - - gene with protein product - - - - ClinVar - GPHN - - - OMIM - 603930 - - - Reactome - Q9NQX3 - - - SwissProt - Q9NQX3 - - - Ensembl - ENSG00000171723 - - - Genatlas - GPHN - - - HGNC - 15465 - - - - - 14q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 308410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308410 - Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency - - Disease - - - Disorder - - - - 22956686[PMID] - - branched chain keto acid dehydrogenase kinase - BCKDK - - - - gene with protein product - - - - ClinVar - BCKDK - - - Ensembl - ENSG00000103507 - - - Genatlas - BCKDK - - - HGNC - 16902 - - - IUPHAR - 1939 - - - OMIM - 614901 - - - Reactome - O14874 - - - SwissProt - O14874 - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 308425 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308425 - Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency - - Disease - - - Disorder - - - - - - methylmalonyl-CoA epimerase - MCEE - - GLOD2 - glyoxalase domain containing 2 - MMCE - MCE - methylmalonyl CoA isomerase - - - gene with protein product - - - - Ensembl - ENSG00000124370 - - - Genatlas - MCEE - - - HGNC - 16732 - - - OMIM - 608419 - - - Reactome - Q96PE7 - - - SwissProt - Q96PE7 - - - ClinVar - MCEE - - - - - 2p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 308698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308698 - Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form - - Clinical subtype - - - Subtype of disorder - - - - - - 1,4-alpha-glucan branching enzyme 1 - GBE1 - - Andersen disease - glycogen branching enzyme - glycogen storage disease type IV - - - gene with protein product - - - - ClinVar - GBE1 - - - OMIM - 607839 - - - Reactome - Q04446 - - - SwissProt - Q04446 - - - Ensembl - ENSG00000114480 - - - Genatlas - GBE1 - - - HGNC - 4180 - - - - - 3p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 308712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308712 - Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form - - Clinical subtype - - - Subtype of disorder - - - - - - 1,4-alpha-glucan branching enzyme 1 - GBE1 - - Andersen disease - glycogen branching enzyme - glycogen storage disease type IV - - - gene with protein product - - - - ClinVar - GBE1 - - - OMIM - 607839 - - - Reactome - Q04446 - - - SwissProt - Q04446 - - - Ensembl - ENSG00000114480 - - - Genatlas - GBE1 - - - HGNC - 4180 - - - - - 3p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 308670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308670 - Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form - - Clinical subtype - - - Subtype of disorder - - - - - - 1,4-alpha-glucan branching enzyme 1 - GBE1 - - Andersen disease - glycogen branching enzyme - glycogen storage disease type IV - - - gene with protein product - - - - ClinVar - GBE1 - - - OMIM - 607839 - - - Reactome - Q04446 - - - SwissProt - Q04446 - - - Ensembl - ENSG00000114480 - - - Genatlas - GBE1 - - - HGNC - 4180 - - - - - 3p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 308684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308684 - Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form - - Clinical subtype - - - Subtype of disorder - - - - - - 1,4-alpha-glucan branching enzyme 1 - GBE1 - - Andersen disease - glycogen branching enzyme - glycogen storage disease type IV - - - gene with protein product - - - - ClinVar - GBE1 - - - OMIM - 607839 - - - Reactome - Q04446 - - - SwissProt - Q04446 - - - Ensembl - ENSG00000114480 - - - Genatlas - GBE1 - - - HGNC - 4180 - - - - - 3p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 309015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309015 - Familial lipoprotein lipase deficiency - - Etiological subtype - - - Subtype of disorder - - - - 24589565[PMID] - - lipoprotein lipase - LPL - - - - gene with protein product - - - - ClinVar - LPL - - - Reactome - P06858 - - - SwissProt - P06858 - - - Ensembl - ENSG00000175445 - - - Genatlas - LPL - - - HGNC - 6677 - - - OMIM - 609708 - - - - - 8p21.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 309020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309020 - Familial apolipoprotein C-II deficiency - - Etiological subtype - - - Subtype of disorder - - - - 24589565[PMID] - - apolipoprotein C2 - APOC2 - - - - gene with protein product - - - - OMIM - 608083 - - - Reactome - P02655 - - - SwissProt - P02655 - - - Ensembl - ENSG00000234906 - - - Genatlas - APOC2 - - - HGNC - 609 - - - ClinVar - APOC2 - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 308487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308487 - Generalized galactose epimerase deficiency - - Clinical subtype - - - Subtype of disorder - - - - - - UDP-galactose-4-epimerase - GALE - - SDR1E1 - UDP-glucose 4-epimerase - short chain dehydrogenase/reductase family 1E, member 1 - - - gene with protein product - - - - ClinVar - GALE - - - Ensembl - ENSG00000117308 - - - Genatlas - GALE - - - HGNC - 4116 - - - OMIM - 606953 - - - Reactome - Q14376 - - - SwissProt - Q14376 - - - - - 1p36.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178 - Chordoma - - Disease - - - Disorder - - - - 35762214[PMID] - - partner and localizer of BRCA2 - PALB2 - - Fanconi anemia, complementation group N - FANCN - FLJ21816 - - - gene with protein product - - - - ClinVar - PALB2 - - - Ensembl - ENSG00000083093 - - - Genatlas - PALB2 - - - HGNC - 26144 - - - OMIM - 610355 - - - Reactome - Q86YC2 - - - SwissProt - Q86YC2 - - - - - 16p12.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 35762214[PMID] - - BRCA2 DNA repair associated - BRCA2 - - BRCA1/BRCA2-containing complex, subunit 2 - BRCC2 - FAD - FAD1 - XRCC11 - - - gene with protein product - - - - SwissProt - P51587 - - - Ensembl - ENSG00000139618 - - - Genatlas - BRCA2 - - - HGNC - 1101 - - - OMIM - 600185 - - - Reactome - P51587 - - - ClinVar - BRCA2 - - - - - 13q13.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 19801981[PMID]_23064415[PMID] - - T-box transcription factor T - TBXT - - - - gene with protein product - - - - IUPHAR - 3304 - - - Ensembl - ENSG00000164458 - - - Genatlas - T - - - HGNC - 11515 - - - OMIM - 601397 - - - SwissProt - O15178 - - - ClinVar - T - - - - - 6q27 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 308473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308473 - Erythrocyte galactose epimerase deficiency - - Clinical subtype - - - Subtype of disorder - - - - - - UDP-galactose-4-epimerase - GALE - - SDR1E1 - UDP-glucose 4-epimerase - short chain dehydrogenase/reductase family 1E, member 1 - - - gene with protein product - - - - ClinVar - GALE - - - Ensembl - ENSG00000117308 - - - Genatlas - GALE - - - HGNC - 4116 - - - OMIM - 606953 - - - Reactome - Q14376 - - - SwissProt - Q14376 - - - - - 1p36.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2637 - Microcephalic osteodysplastic primordial dwarfism type II - - Malformation syndrome - - - Disorder - - - - 18174396[PMID] - - pericentrin - PCNT - - KEN - KIAA0402 - PCN - PCNTB - SCKL4 - Seckel syndrome 4 - kendrin - - - gene with protein product - - - - ClinVar - PCNT - - - Ensembl - ENSG00000160299 - - - Genatlas - PCNT - - - HGNC - 16068 - - - OMIM - 605925 - - - Reactome - O95613 - - - SwissProt - O95613 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 308442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308442 - Vitamin B12-responsive methylmalonic acidemia, type cblDv2 - - Clinical subtype - - - Subtype of disorder - - - - - - metabolism of cobalamin associated D - MMADHC - - CL25022 - cblD - - - gene with protein product - - - - Ensembl - ENSG00000168288 - - - Genatlas - MMADHC - - - HGNC - 25221 - - - OMIM - 611935 - - - Reactome - Q9H3L0 - - - SwissProt - Q9H3L0 - - - ClinVar - MMADHC - - - - - 2q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 308655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308655 - Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form - - Clinical subtype - - - Subtype of disorder - - - - - - 1,4-alpha-glucan branching enzyme 1 - GBE1 - - Andersen disease - glycogen branching enzyme - glycogen storage disease type IV - - - gene with protein product - - - - ClinVar - GBE1 - - - OMIM - 607839 - - - Reactome - Q04446 - - - SwissProt - Q04446 - - - Ensembl - ENSG00000114480 - - - Genatlas - GBE1 - - - HGNC - 4180 - - - - - 3p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 308638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308638 - Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form - - Clinical subtype - - - Subtype of disorder - - - - - - 1,4-alpha-glucan branching enzyme 1 - GBE1 - - Andersen disease - glycogen branching enzyme - glycogen storage disease type IV - - - gene with protein product - - - - ClinVar - GBE1 - - - OMIM - 607839 - - - Reactome - Q04446 - - - SwissProt - Q04446 - - - Ensembl - ENSG00000114480 - - - Genatlas - GBE1 - - - HGNC - 4180 - - - - - 3p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 308621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308621 - Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form - - Clinical subtype - - - Subtype of disorder - - - - - - 1,4-alpha-glucan branching enzyme 1 - GBE1 - - Andersen disease - glycogen branching enzyme - glycogen storage disease type IV - - - gene with protein product - - - - ClinVar - GBE1 - - - OMIM - 607839 - - - Reactome - Q04446 - - - SwissProt - Q04446 - - - Ensembl - ENSG00000114480 - - - Genatlas - GBE1 - - - HGNC - 4180 - - - - - 3p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 308552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308552 - Glycogen storage disease due to acid maltase deficiency, infantile onset - - Clinical subtype - - - Subtype of disorder - - - - - - alpha glucosidase - GAA - - Pompe disease - glycogen storage disease type II - - - gene with protein product - - - - ClinVar - GAA - - - Ensembl - ENSG00000171298 - - - Genatlas - GAA - - - HGNC - 4065 - - - IUPHAR - 2611 - - - OMIM - 606800 - - - Reactome - P10253 - - - SwissProt - P10253 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 309271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309271 - Metachromatic leukodystrophy, adult form - - Clinical subtype - - - Subtype of disorder - - - - 24478108[PMID] - - prosaposin - PSAP - - variant Gaucher disease and variant metachromatic leukodystrophy - precursor of saposins - saposin-A - saposin-B - saposin-D - saposin-C - - - gene with protein product - - - - SwissProt - P07602 - - - Ensembl - ENSG00000197746 - - - Genatlas - PSAP - - - HGNC - 9498 - - - OMIM - 176801 - - - Reactome - P07602 - - - ClinVar - PSAP - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301309[PMID] - - arylsulfatase A - ARSA - - metachromatic leucodystrophy - ASA - - - gene with protein product - - - - ClinVar - ARSA - - - Ensembl - ENSG00000100299 - - - Genatlas - ARSA - - - HGNC - 713 - - - OMIM - 607574 - - - Reactome - P15289 - - - SwissProt - P15289 - - - - - 22q13.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 309282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309282 - Alpha-mannosidosis, infantile form - - Clinical subtype - - - Subtype of disorder - - - - 19958498[PMID] - - mannosidase alpha class 2B member 1 - MAN2B1 - - LAMAN - lysosomal alpha-mannosidase - - - gene with protein product - - - - Reactome - O00754 - - - Ensembl - ENSG00000104774 - - - Genatlas - MAN2B1 - - - HGNC - 6826 - - - OMIM - 609458 - - - SwissProt - O00754 - - - ClinVar - MAN2B1 - - - - - 19p13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 309288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309288 - Alpha-mannosidosis, adult form - - Clinical subtype - - - Subtype of disorder - - - - 19958498[PMID] - - mannosidase alpha class 2B member 1 - MAN2B1 - - LAMAN - lysosomal alpha-mannosidase - - - gene with protein product - - - - Reactome - O00754 - - - Ensembl - ENSG00000104774 - - - Genatlas - MAN2B1 - - - HGNC - 6826 - - - OMIM - 609458 - - - SwissProt - O00754 - - - ClinVar - MAN2B1 - - - - - 19p13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 309246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309246 - GM2 gangliosidosis, AB variant - - Disease - - - Disorder - - - - 8900233[PMID] - - ganglioside GM2 activator - GM2A - - SAP-3 - cerebroside sulfate activator protein - sphingolipid activator protein 3 - GM2-AP - GM2-activator protein - GM2AP - - - gene with protein product - - - - ClinVar - GM2A - - - Ensembl - ENSG00000196743 - - - Genatlas - GM2A - - - HGNC - 4367 - - - OMIM - 613109 - - - Reactome - P17900 - - - SwissProt - P17900 - - - - - 5q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 309252 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309252 - Atypical Gaucher disease due to saposin C deficiency - - Clinical subtype - - - Subtype of disorder - - - - - - prosaposin - PSAP - - variant Gaucher disease and variant metachromatic leukodystrophy - precursor of saposins - saposin-A - saposin-B - saposin-D - saposin-C - - - gene with protein product - - - - SwissProt - P07602 - - - Ensembl - ENSG00000197746 - - - Genatlas - PSAP - - - HGNC - 9498 - - - OMIM - 176801 - - - Reactome - P07602 - - - ClinVar - PSAP - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 309256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309256 - Metachromatic leukodystrophy, late infantile form - - Clinical subtype - - - Subtype of disorder - - - - 24478108[PMID] - - prosaposin - PSAP - - variant Gaucher disease and variant metachromatic leukodystrophy - precursor of saposins - saposin-A - saposin-B - saposin-D - saposin-C - - - gene with protein product - - - - SwissProt - P07602 - - - Ensembl - ENSG00000197746 - - - Genatlas - PSAP - - - HGNC - 9498 - - - OMIM - 176801 - - - Reactome - P07602 - - - ClinVar - PSAP - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301309[PMID] - - arylsulfatase A - ARSA - - metachromatic leucodystrophy - ASA - - - gene with protein product - - - - ClinVar - ARSA - - - Ensembl - ENSG00000100299 - - - Genatlas - ARSA - - - HGNC - 713 - - - OMIM - 607574 - - - Reactome - P15289 - - - SwissProt - P15289 - - - - - 22q13.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 309263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309263 - Metachromatic leukodystrophy, juvenile form - - Clinical subtype - - - Subtype of disorder - - - - 24478108[PMID] - - prosaposin - PSAP - - variant Gaucher disease and variant metachromatic leukodystrophy - precursor of saposins - saposin-A - saposin-B - saposin-D - saposin-C - - - gene with protein product - - - - SwissProt - P07602 - - - Ensembl - ENSG00000197746 - - - Genatlas - PSAP - - - HGNC - 9498 - - - OMIM - 176801 - - - Reactome - P07602 - - - ClinVar - PSAP - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301309[PMID] - - arylsulfatase A - ARSA - - metachromatic leucodystrophy - ASA - - - gene with protein product - - - - ClinVar - ARSA - - - Ensembl - ENSG00000100299 - - - Genatlas - ARSA - - - HGNC - 713 - - - OMIM - 607574 - - - Reactome - P15289 - - - SwissProt - P15289 - - - - - 22q13.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 309324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309324 - Free sialic acid storage disease, infantile form - - Clinical subtype - - - Subtype of disorder - - - - 20301643[PMID] - - solute carrier family 17 member 5 - SLC17A5 - - AST - ISSD - NSD - SD - SIALIN - SLD - Salla disease - acidic sugar transporter - infantile sialic acid storage disorder - - - gene with protein product - - - - ClinVar - SLC17A5 - - - Ensembl - ENSG00000119899 - - - Genatlas - SLC17A5 - - - HGNC - 10933 - - - OMIM - 604322 - - - Reactome - Q9NRA2 - - - SwissProt - Q9NRA2 - - - IUPHAR - 1006 - - - - - 6q13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 309331 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309331 - Intermediate severe Salla disease - - Clinical subtype - - - Subtype of disorder - - - - 20301643[PMID] - - solute carrier family 17 member 5 - SLC17A5 - - AST - ISSD - NSD - SD - SIALIN - SLD - Salla disease - acidic sugar transporter - infantile sialic acid storage disorder - - - gene with protein product - - - - ClinVar - SLC17A5 - - - Ensembl - ENSG00000119899 - - - Genatlas - SLC17A5 - - - HGNC - 10933 - - - OMIM - 604322 - - - Reactome - Q9NRA2 - - - SwissProt - Q9NRA2 - - - IUPHAR - 1006 - - - - - 6q13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 309334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309334 - Salla disease - - Clinical subtype - - - Subtype of disorder - - - - 20301643[PMID] - - solute carrier family 17 member 5 - SLC17A5 - - AST - ISSD - NSD - SD - SIALIN - SLD - Salla disease - acidic sugar transporter - infantile sialic acid storage disorder - - - gene with protein product - - - - ClinVar - SLC17A5 - - - Ensembl - ENSG00000119899 - - - Genatlas - SLC17A5 - - - HGNC - 10933 - - - OMIM - 604322 - - - Reactome - Q9NRA2 - - - SwissProt - Q9NRA2 - - - IUPHAR - 1006 - - - - - 6q13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 309297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297 - Mucopolysaccharidosis type 4A - - Clinical subtype - - - Subtype of disorder - - - - 23844448[PMID] - - galactosamine (N-acetyl)-6-sulfatase - GALNS - - GALNAC6S - GAS - Morquio syndrome - mucopolysaccharidosis type IVA - N-acetylgalactosamine-6-sulfatase - galactose-6-sulfate sulfatase - chondroitinase - GalN6S - chondroitinsulfatase - - - gene with protein product - - - - ClinVar - GALNS - - - IUPHAR - 2765 - - - Ensembl - ENSG00000141012 - - - Genatlas - GALNS - - - HGNC - 4122 - - - OMIM - 612222 - - - Reactome - P34059 - - - SwissProt - P34059 - - - - - 16q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 309310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309310 - Mucopolysaccharidosis type 4B - - Clinical subtype - - - Subtype of disorder - - - - 24156116[PMID] - - galactosidase beta 1 - GLB1 - - EBP - elastin binding protein - - - gene with protein product - - - - Ensembl - ENSG00000170266 - - - Genatlas - GLB1 - - - HGNC - 4298 - - - OMIM - 611458 - - - Reactome - P16278 - - - SwissProt - P16278 - - - ClinVar - GLB1 - - - - - 3p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 309185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309185 - Tay-Sachs disease, juvenile form - - Clinical subtype - - - Subtype of disorder - - - - - - hexosaminidase subunit alpha - HEXA - - GM2 gangliosidosis - Tay Sachs disease - beta-hexosaminidase subunit alpha - - - gene with protein product - - - - ClinVar - HEXA - - - HGNC - 4878 - - - OMIM - 606869 - - - Reactome - P06865 - - - SwissProt - P06865 - - - Ensembl - ENSG00000213614 - - - Genatlas - HEXA - - - - - 15q23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 309178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309178 - Tay-Sachs disease, infantile form - - Clinical subtype - - - Subtype of disorder - - - - - - hexosaminidase subunit alpha - HEXA - - GM2 gangliosidosis - Tay Sachs disease - beta-hexosaminidase subunit alpha - - - gene with protein product - - - - ClinVar - HEXA - - - HGNC - 4878 - - - OMIM - 606869 - - - Reactome - P06865 - - - SwissProt - P06865 - - - Ensembl - ENSG00000213614 - - - Genatlas - HEXA - - - - - 15q23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 309192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309192 - Tay-Sachs disease, adult form - - Clinical subtype - - - Subtype of disorder - - - - - - hexosaminidase subunit alpha - HEXA - - GM2 gangliosidosis - Tay Sachs disease - beta-hexosaminidase subunit alpha - - - gene with protein product - - - - ClinVar - HEXA - - - HGNC - 4878 - - - OMIM - 606869 - - - Reactome - P06865 - - - SwissProt - P06865 - - - Ensembl - ENSG00000213614 - - - Genatlas - HEXA - - - - - 15q23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 309155 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309155 - Sandhoff disease, infantile form - - Clinical subtype - - - Subtype of disorder - - - - 20798201[PMID] - - hexosaminidase subunit beta - HEXB - - beta-hexosaminidase subunit beta - - - gene with protein product - - - - ClinVar - HEXB - - - Ensembl - ENSG00000049860 - - - Genatlas - HEXB - - - HGNC - 4879 - - - OMIM - 606873 - - - Reactome - P07686 - - - SwissProt - P07686 - - - - - 5q13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 309169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309169 - Sandhoff disease, adult form - - Clinical subtype - - - Subtype of disorder - - - - 20798201[PMID] - - hexosaminidase subunit beta - HEXB - - beta-hexosaminidase subunit beta - - - gene with protein product - - - - ClinVar - HEXB - - - Ensembl - ENSG00000049860 - - - Genatlas - HEXB - - - HGNC - 4879 - - - OMIM - 606873 - - - Reactome - P07686 - - - SwissProt - P07686 - - - - - 5q13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 309162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309162 - Sandhoff disease, juvenile form - - Clinical subtype - - - Subtype of disorder - - - - 20798201[PMID] - - hexosaminidase subunit beta - HEXB - - beta-hexosaminidase subunit beta - - - gene with protein product - - - - ClinVar - HEXB - - - Ensembl - ENSG00000049860 - - - Genatlas - HEXB - - - HGNC - 4879 - - - OMIM - 606873 - - - Reactome - P07686 - - - SwissProt - P07686 - - - - - 5q13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 300547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300547 - Autosomal recessive infantile hypercalcemia - - Disease - - - Disorder - - - - 21675912[PMID] - - cytochrome P450 family 24 subfamily A member 1 - CYP24A1 - - CP24 - P450-CC24 - lncBCAS1-4_1 - - - gene with protein product - - - - IUPHAR - 1365 - - - ClinVar - CYP24A1 - - - Ensembl - ENSG00000019186 - - - Genatlas - CYP24A1 - - - HGNC - 2602 - - - OMIM - 126065 - - - Reactome - Q07973 - - - SwissProt - Q07973 - - - - - 20q13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 26047794[PMID] - - solute carrier family 34 member 1 - SLC34A1 - - NAPI-3 - NPTIIa - Na+-phosphate cotransporter type II - SLC11 - sodium/phosphate co-transporter - solute carrier family 17 (sodium phosphate), member 2 - - - gene with protein product - - - - IUPHAR - 1135 - - - Ensembl - ENSG00000131183 - - - Genatlas - SLC34A1 - - - HGNC - 11019 - - - OMIM - 182309 - - - Reactome - Q06495 - - - SwissProt - Q06495 - - - ClinVar - SLC34A1 - - - - - 5q35.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 300570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300570 - Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation - - Disease - - - Disorder - - - - 20829227[PMID] - - tubulin beta 3 class III - TUBB3 - - CFEOM3 - CFEOM3A - beta-4 - class III beta-tubulin - - - gene with protein product - - - - Ensembl - ENSG00000258947 - - - Genatlas - TUBB3 - - - HGNC - 20772 - - - IUPHAR - 2752 - - - OMIM - 602661 - - - Reactome - Q13509 - - - SwissProt - Q13509 - - - ClinVar - TUBB3 - - - - - 16q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 300573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300573 - Polymicrogyria due to TUBB2B mutation - - Malformation syndrome - - - Disorder - - - - 19465910[PMID] - - tubulin beta 2B class IIb - TUBB2B - - DKFZp566F223 - MGC8685 - bA506K6.1 - class IIb beta-tubulin - - - gene with protein product - - - - Ensembl - ENSG00000137285 - - - Genatlas - TUBB2B - - - HGNC - 30829 - - - OMIM - 612850 - - - Reactome - Q9BVA1 - - - SwissProt - Q9BVA1 - - - ClinVar - TUBB2B - - - - - 6p25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 300496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300496 - Multiple congenital anomalies-hypotonia-seizures syndrome type 2 - - Malformation syndrome - - - Disorder - - - - - - phosphatidylinositol glycan anchor biosynthesis class A - PIGA - - GPI3 (SPT14) homolog (S. cerevisiae) - PIG-A - Phosphatidylinositol N-acetylglucosaminyltransferase subunit A - GPI3 - paroxysmal nocturnal hemoglobinuria - - - gene with protein product - - - - Ensembl - ENSG00000165195 - - - Genatlas - PIGA - - - HGNC - 8957 - - - OMIM - 311770 - - - Reactome - P37287 - - - SwissProt - P37287 - - - ClinVar - PIGA - - - - - Xp22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 300525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300525 - Pseudohypoaldosteronism type 2D - - Etiological subtype - - - Subtype of disorder - - - - 22073419[PMID] - - kelch like family member 3 - KLHL3 - - KIAA1129 - - - gene with protein product - - - - Reactome - Q9UH77 - - - Ensembl - ENSG00000146021 - - - Genatlas - KLHL3 - - - HGNC - 6354 - - - OMIM - 605775 - - - SwissProt - Q9UH77 - - - ClinVar - KLHL3 - - - - - 5q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 300530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300530 - Pseudohypoaldosteronism type 2E - - Etiological subtype - - - Subtype of disorder - - - - 22073419[PMID] - - cullin 3 - CUL3 - - - - gene with protein product - - - - Genatlas - CUL3 - - - HGNC - 2553 - - - OMIM - 603136 - - - Reactome - Q13618 - - - SwissProt - Q13618 - - - ClinVar - CUL3 - - - Ensembl - ENSG00000036257 - - - - - 2q36.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 300536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300536 - DDOST-CDG - - Disease - - - Disorder - - - - 22305527[PMID] - - dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit - DDOST - - GATD6 - KIAA0115 - OST - OST48 - WBP1 - advanced glycation end-product receptor 1 - oligosaccharyltransferase subunit 48 - - - gene with protein product - - - - Ensembl - ENSG00000244038 - - - Genatlas - DDOST - - - HGNC - 2728 - - - OMIM - 602202 - - - Reactome - P39656 - - - SwissProt - P39656 - - - ClinVar - DDOST - - - - - 1p36.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 300865 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300865 - Primary cutaneous anaplastic large cell lymphoma - - Disease - - - Disorder - - - - 25349176[PMID] - - tyrosine kinase 2 - TYK2 - - JTK1 - - - gene with protein product - - - - ClinVar - TYK2 - - - Ensembl - ENSG00000105397 - - - Genatlas - TYK2 - - - HGNC - 12440 - - - IUPHAR - 2269 - - - OMIM - 176941 - - - Reactome - P29597 - - - SwissProt - P29597 - - - - - 19p13.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 25349176[PMID] - - nucleophosmin 1 - NPM1 - - B23 - NPM - Nucleophosmin/nucleoplasmin family, member 1 - Numatrin - nucleolar phosphoprotein B23 - numatrin - nucleophosmin/nucleoplasmin family, member 1 - - - gene with protein product - - - - Ensembl - ENSG00000181163 - - - Genatlas - NPM1 - - - HGNC - 7910 - - - OMIM - 164040 - - - Reactome - P06748 - - - SwissProt - P06748 - - - ClinVar - NPM1 - - - - - 5q35.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 300878 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300878 - Hairy cell leukemia variant - - Disease - - - Disorder - - - - 21599610[PMID]_19745070[PMID] - - immunoglobulin heavy variable 4-34 - IGHV4-34 - - - - gene with protein product - - - - SwissProt - P06331 - - - Reactome - P06331 - - - ClinVar - IGHV4-34 - - - Ensembl - ENSG00000211956 - - - Genatlas - IGHV4-34 - - - HGNC - 5650 - - - OMIM - - - - - - 14q32.33 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 300895 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300895 - ALK-positive anaplastic large cell lymphoma - - Histopathological subtype - - - Subtype of disorder - - - - 12112524[PMID] - - ALK receptor tyrosine kinase - ALK - - ALK1 - CD246 - - - gene with protein product - - - - Reactome - Q9UM73 - - - ClinVar - ALK - - - Ensembl - ENSG00000171094 - - - Genatlas - ALK - - - HGNC - 427 - - - IUPHAR - 1839 - - - OMIM - 105590 - - - SwissProt - Q9UM73 - - - - - 2p23.2-p23.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 300605 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300605 - Juvenile amyotrophic lateral sclerosis - - Disease - - - Disorder - - - - 23282280[PMID] - - alsin Rho guanine nucleotide exchange factor ALS2 - ALS2 - - alsin - - - gene with protein product - - - - Ensembl - ENSG00000003393 - - - Genatlas - ALS2 - - - HGNC - 443 - - - OMIM - 606352 - - - SwissProt - Q96Q42 - - - Reactome - Q96Q42 - - - ClinVar - ALS2 - - - - - 2q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24085347[PMID]_22154821[PMID]_20110243[PMID] - - SPG11 vesicle trafficking associated, spatacsin - SPG11 - - FLJ21439 - spatacsin - - - gene with protein product - - - - ClinVar - SPG11 - - - Ensembl - ENSG00000104133 - - - Genatlas - SPG11 - - - HGNC - 11226 - - - OMIM - 610844 - - - SwissProt - Q96JI7 - - - - - 15q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21842496[PMID]_24085347[PMID] - - sigma non-opioid intracellular receptor 1 - SIGMAR1 - - SR-BP1 - - - gene with protein product - - - - Ensembl - ENSG00000147955 - - - Genatlas - SIGMAR1 - - - HGNC - 8157 - - - IUPHAR - 2552 - - - OMIM - 601978 - - - SwissProt - Q99720 - - - ClinVar - SIGMAR1 - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20579074[PMID]_23046859[PMID]_22248478[PMID] - - FUS RNA binding protein - FUS - - FUS1 - HNRNPP2 - TLS - heterogeneous nuclear ribonucleoprotein P2 - hnRNP-P2 - translocated in liposarcoma - - - gene with protein product - - - - ClinVar - FUS - - - Ensembl - ENSG00000089280 - - - Genatlas - FUS - - - HGNC - 4010 - - - OMIM - 137070 - - - Reactome - P35637 - - - SwissProt - P35637 - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34459874[PMID] - - serine palmitoyltransferase long chain base subunit 1 - SPTLC1 - - HSAN1 - LCB1 - SPTI - hLCB1 - - - gene with protein product - - - - IUPHAR - 2509 - - - ClinVar - SPTLC1 - - - Ensembl - ENSG00000090054 - - - Genatlas - SPTLC1 - - - HGNC - 11277 - - - OMIM - 605712 - - - Reactome - O15269 - - - SwissProt - O15269 - - - - - 9q22.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 300751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300751 - Familial dilated cardiomyopathy with conduction defect due to LMNA mutation - - Disease - - - Disorder - - - - 20301717[PMID] - - lamin A/C - LMNA - - HGPS - MADA - mandibuloacral dysplasia type A - progerin - - - gene with protein product - - - - ClinVar - LMNA - - - Ensembl - ENSG00000160789 - - - Genatlas - LMNA - - - HGNC - 6636 - - - OMIM - 150330 - - - Reactome - P02545 - - - SwissProt - P02545 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 306550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306550 - FADD-related immunodeficiency - - Disease - - - Disorder - - - - 21109225[PMID] - - Fas associated via death domain - FADD - - Fas-associating death domain-containing protein - Fas-associating protein with death domain - GIG3 - Growth-inhibiting gene 3 protein - MORT1 - Mediator of receptor-induced toxicity - growth-inhibiting gene 3 protein - mediator of receptor-induced toxicity - - - gene with protein product - - - - Ensembl - ENSG00000168040 - - - Genatlas - FADD - - - HGNC - 3573 - - - OMIM - 602457 - - - Reactome - Q13158 - - - SwissProt - Q13158 - - - ClinVar - FADD - - - - - 11q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 306542 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306542 - Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome - - Malformation syndrome - - - Disorder - - - - 20451171[PMID] - - ALX homeobox 1 - ALX1 - - - - gene with protein product - - - - Reactome - Q15699 - - - OMIM - 601527 - - - SwissProt - Q15699 - - - Ensembl - ENSG00000180318 - - - Genatlas - ALX1 - - - HGNC - 1494 - - - ClinVar - ALX1 - - - - - 12q21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 306547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306547 - Porencephaly-microcephaly-bilateral congenital cataract syndrome - - Malformation syndrome - - - Disorder - - - - 21109224[PMID] - - junctional adhesion molecule 3 - JAM3 - - JAM-3 - junctional adhesion molecule C - JAM-C - JAMC - - - gene with protein product - - - - Ensembl - ENSG00000166086 - - - Genatlas - JAM3 - - - HGNC - 15532 - - - OMIM - 606871 - - - Reactome - Q9BX67 - - - SwissProt - Q9BX67 - - - ClinVar - JAM3 - - - - - 11q25 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 306530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306530 - Congenital hereditary facial paralysis-variable hearing loss syndrome - - Morphological anomaly - - - Disorder - - - - 22770981[PMID] - - homeobox B1 - HOXB1 - - - - gene with protein product - - - - Ensembl - ENSG00000120094 - - - Genatlas - HOXB1 - - - HGNC - 5111 - - - OMIM - 142968 - - - Reactome - P14653 - - - SwissProt - P14653 - - - ClinVar - HOXB1 - - - - - 17q21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 306511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306511 - Autosomal recessive spastic paraplegia type 48 - - Disease - - - Disorder - - - - 20613862[PMID] - - adaptor related protein complex 5 subunit zeta 1 - AP5Z1 - - SPG48 - zeta - - - gene with protein product - - - - ClinVar - AP5Z1 - - - Ensembl - ENSG00000242802 - - - Genatlas - AP5Z1 - - - HGNC - 22197 - - - OMIM - 613653 - - - SwissProt - O43299 - - - - - 7p22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 306504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306504 - Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome - - Disease - - - Disorder - - - - 22512183[PMID] - - integrin subunit alpha 3 - ITGA3 - - CD49c - GAP-B3 - VCA-2 - VLA3a - alpha 3 subunit of VLA-3 receptor - antigen CD49C - galactoprotein b3 - very late activation receptor subunit alpha-3 - - - gene with protein product - - - - ClinVar - ITGA3 - - - SwissProt - P26006 - - - Ensembl - ENSG00000005884 - - - Genatlas - ITGA3 - - - HGNC - 6139 - - - OMIM - 605025 - - - Reactome - P26006 - - - IUPHAR - 2442 - - - - - 17q21.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 306661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306661 - Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome - - Clinical subtype - - - Subtype of disorder - - - - 15590700[PMID]_22142751[PMID]_19188744[PMID] - - fibroblast growth factor 23 - FGF23 - - - - gene with protein product - - - - SwissProt - Q9GZV9 - - - Ensembl - ENSG00000118972 - - - Genatlas - FGF23 - - - HGNC - 3680 - - - OMIM - 605380 - - - Reactome - Q9GZV9 - - - ClinVar - FGF23 - - - - - 12p13.32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 15133511[PMID]_21347749[PMID] - - polypeptide N-acetylgalactosaminyltransferase 3 - GALNT3 - - GalNAc-T3 - HFTC - HHS - polypeptide GalNAc transferase 3 - - - gene with protein product - - - - ClinVar - GALNT3 - - - Genatlas - GALNT3 - - - HGNC - 4125 - - - OMIM - 601756 - - - Reactome - Q14435 - - - SwissProt - Q14435 - - - Ensembl - ENSG00000115339 - - - - - 2q24.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 17710231[PMID]_22142751[PMID] - - klotho - KL - - alpha-klotho - KLA - - - gene with protein product - - - - ClinVar - KL - - - IUPHAR - 3146 - - - Ensembl - ENSG00000133116 - - - Genatlas - KL - - - HGNC - 6344 - - - OMIM - 604824 - - - Reactome - Q9UEF7 - - - SwissProt - Q9UEF7 - - - - - 13q13.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 306658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306658 - Familial normophosphatemic tumoral calcinosis - - Clinical subtype - - - Subtype of disorder - - - - 16960814[PMID]_18094730[PMID] - - sterile alpha motif domain containing 9 - SAMD9 - - FLJ20073 - KIAA2004 - - - gene with protein product - - - - ClinVar - SAMD9 - - - Ensembl - ENSG00000205413 - - - Genatlas - SAMD9 - - - HGNC - 1348 - - - OMIM - 610456 - - - SwissProt - Q5K651 - - - - - 7q21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 306617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306617 - X-linked complicated spastic paraplegia type 1 - - Clinical subtype - - - Subtype of disorder - - - - 20301657[PMID] - - L1 cell adhesion molecule - L1CAM - - neural cell adhesion molecule L1 - CD171 - CAML1 - NCAM-L1 - - - gene with protein product - - - - ClinVar - L1CAM - - - Ensembl - ENSG00000198910 - - - Genatlas - L1CAM - - - HGNC - 6470 - - - OMIM - 308840 - - - Reactome - P32004 - - - SwissProt - P32004 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 306577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306577 - Hereditary sodium channelopathy-related small fibers neuropathy - - Disease - - - Disorder - - - - 21698661[PMID] - - sodium voltage-gated channel alpha subunit 9 - SCN9A - - ETHA - NE-NA - NENA - Nav1.7 - PN1 - - - gene with protein product - - - - ClinVar - SCN9A - - - Ensembl - ENSG00000169432 - - - Genatlas - SCN9A - - - HGNC - 10597 - - - IUPHAR - 584 - - - OMIM - 603415 - - - Reactome - Q15858 - - - SwissProt - Q15858 - - - - - 2q24.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 23115331[PMID] - - sodium voltage-gated channel alpha subunit 10 - SCN10A - - Nav1.8 - PN3 - SNS - hPN3 - peripheral nerve sodium channel 3 - sensory neuron sodium channel - - - gene with protein product - - - - Ensembl - ENSG00000185313 - - - Genatlas - SCN10A - - - HGNC - 10582 - - - IUPHAR - 585 - - - OMIM - 604427 - - - Reactome - Q9Y5Y9 - - - SwissProt - Q9Y5Y9 - - - ClinVar - SCN10A - - - - - 3p22.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 24776970[PMID] - - sodium voltage-gated channel alpha subunit 11 - SCN11A - - NaN - Nav1.9 - SNS-2 - - - gene with protein product - - - - Ensembl - ENSG00000168356 - - - Genatlas - SCN11A - - - HGNC - 10583 - - - IUPHAR - 586 - - - OMIM - 604385 - - - Reactome - Q9UI33 - - - SwissProt - Q9UI33 - - - ClinVar - SCN11A - - - - - 3p22.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 306558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306558 - Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome - - Disease - - - Disorder - - - - 21835305[PMID] - - immediate early response 3 interacting protein 1 - IER3IP1 - - - - gene with protein product - - - - Ensembl - ENSG00000134049 - - - Genatlas - IER3IP1 - - - HGNC - 18550 - - - OMIM - 609382 - - - SwissProt - Q9Y5U9 - - - Reactome - Q9Y5U9 - - - ClinVar - IER3IP1 - - - - - 18q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33164987[PMID] - - Yip1 domain family member 5 - YIPF5 - - YIPFalpha1A - Yip1a - SMAP-5 - FinGER5 - - - gene with protein product - - - - SwissProt - Q969M3 - - - OMIM - 611483 - - - Ensembl - ENSG00000145817 - - - HGNC - 24877 - - - - - 5q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 295195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295195 - Synpolydactyly type 1 - - Clinical subtype - - - Subtype of disorder - - - - 22448207[PMID] - - homeobox D13 - HOXD13 - - synpolydactyly - - - gene with protein product - - - - Reactome - P35453 - - - ClinVar - HOXD13 - - - Ensembl - ENSG00000128714 - - - Genatlas - HOXD13 - - - HGNC - 5136 - - - OMIM - 142989 - - - SwissProt - P35453 - - - - - 2q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 295191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295191 - Zygodactyly type 3 - - Clinical subtype - - - Subtype of disorder - - - - 24789103[PMID] - - homeobox D13 - HOXD13 - - synpolydactyly - - - gene with protein product - - - - Reactome - P35453 - - - ClinVar - HOXD13 - - - Ensembl - ENSG00000128714 - - - Genatlas - HOXD13 - - - HGNC - 5136 - - - OMIM - 142989 - - - SwissProt - P35453 - - - - - 2q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 295201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295201 - Congenital vertical talus, unilateral - - Clinical subtype - - - Subtype of disorder - - - - - - homeobox D10 - HOXD10 - - - - gene with protein product - - - - OMIM - 142984 - - - SwissProt - P28358 - - - Ensembl - ENSG00000128710 - - - Genatlas - HOXD10 - - - HGNC - 5133 - - - ClinVar - HOXD10 - - - - - 2q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 295203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295203 - Congenital vertical talus, bilateral - - Clinical subtype - - - Subtype of disorder - - - - 15146389[PMID]_16450407[PMID] - - homeobox D10 - HOXD10 - - - - gene with protein product - - - - OMIM - 142984 - - - SwissProt - P28358 - - - Ensembl - ENSG00000128710 - - - Genatlas - HOXD10 - - - HGNC - 5133 - - - ClinVar - HOXD10 - - - - - 2q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 295197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295197 - Synpolydactyly type 2 - - Clinical subtype - - - Subtype of disorder - - - - 22448207[PMID]_11836357[PMID] - - fibulin 1 - FBLN1 - - FBLN - - - gene with protein product - - - - Genatlas - FBLN1 - - - HGNC - 3600 - - - OMIM - 135820 - - - Reactome - P23142 - - - SwissProt - P23142 - - - Ensembl - ENSG00000077942 - - - ClinVar - FBLN1 - - - - - 22q13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 295239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295239 - Macrodactyly of fingers, unilateral - - Clinical subtype - - - Subtype of disorder - - - - 23100325[PMID] - - phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha - PIK3CA - - PI3K - - - gene with protein product - - - - Reactome - P42336 - - - SwissProt - P42336 - - - Ensembl - ENSG00000121879 - - - Genatlas - PIK3CA - - - HGNC - 8975 - - - IUPHAR - 2153 - - - OMIM - 171834 - - - ClinVar - PIK3CA - - - - - 3q26.32 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 295243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295243 - Macrodactyly of toes, unilateral - - Clinical subtype - - - Subtype of disorder - - - - 24782230[PMID] - - phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha - PIK3CA - - PI3K - - - gene with protein product - - - - Reactome - P42336 - - - SwissProt - P42336 - - - Ensembl - ENSG00000121879 - - - Genatlas - PIK3CA - - - HGNC - 8975 - - - IUPHAR - 2153 - - - OMIM - 171834 - - - ClinVar - PIK3CA - - - - - 3q26.32 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 300179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300179 - Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency - - Clinical subtype - - - Subtype of disorder - - - - 22265013[PMID] - - FKBP prolyl isomerase 14 - FKBP14 - - FKBP22 - FLJ20731 - - - gene with protein product - - - - ClinVar - FKBP14 - - - Ensembl - ENSG00000106080 - - - Genatlas - FKBP14 - - - HGNC - 18625 - - - OMIM - 614505 - - - Reactome - Q9NWM8 - - - SwissProt - Q9NWM8 - - - - - 7p14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 300319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300319 - Autosomal dominant Charcot-Marie-Tooth disease type 2P - - Disease - - - Disorder - - - - 20301462[PMID] - - leucine rich repeat and sterile alpha motif containing 1 - LRSAM1 - - E3 ubiquitin-protein ligase LRSAM1 - CMT2P - FLJ31641 - TSG 101-associated ligase - RIFLE - RING finger leucine repeat rich - TAL - - - gene with protein product - - - - ClinVar - LRSAM1 - - - Ensembl - ENSG00000148356 - - - Genatlas - LRSAM1 - - - HGNC - 25135 - - - OMIM - 610933 - - - Reactome - Q6UWE0 - - - SwissProt - Q6UWE0 - - - - - 9q33.3-q34.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 300324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300324 - Persistent polyclonal B-cell lymphocytosis - - Disease - - - Disorder - - - - 25352053[PMID] - - caspase recruitment domain family member 11 - CARD11 - - BIMP3 - CARMA1 - bcl10-interacting maguk protein 3 - card-maguk protein 1 - - - gene with protein product - - - - ClinVar - CARD11 - - - Ensembl - ENSG00000198286 - - - Genatlas - CARD11 - - - HGNC - 16393 - - - OMIM - 607210 - - - Reactome - Q9BXL7 - - - SwissProt - Q9BXL7 - - - - - 7p22.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 300313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300313 - Congenital cataract-hearing loss-severe developmental delay syndrome - - Disease - - - Disorder - - - - 22243965[PMID] - - solute carrier family 33 member 1 - SLC33A1 - - Acetyl-CoA transporter 1 - AT-1 - AT1 - - - gene with protein product - - - - IUPHAR - 1134 - - - Ensembl - ENSG00000169359 - - - Genatlas - SLC33A1 - - - HGNC - 95 - - - OMIM - 603690 - - - Reactome - O00400 - - - SwissProt - O00400 - - - ClinVar - SLC33A1 - - - - - 3q25.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 300298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300298 - Severe congenital hypochromic anemia with ringed sideroblasts - - Disease - - - Disorder - - - - 22031863[PMID] - - STEAP3 metalloreductase - STEAP3 - - STMP3 - TSAP6 - dudlin-2 - ferrireductase - - - gene with protein product - - - - ClinVar - STEAP3 - - - Ensembl - ENSG00000115107 - - - Genatlas - STEAP3 - - - HGNC - 24592 - - - OMIM - 609671 - - - Reactome - Q658P3 - - - SwissProt - Q658P3 - - - - - 2q14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 300284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300284 - Connective tissue disorder due to lysyl hydroxylase-3 deficiency - - Disease - - - Disorder - - - - 18834968[PMID] - - procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 - PLOD3 - - LH3 - Lysyl hydroxlase 3 - Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 - lysyl hydroxlase 3 - - - gene with protein product - - - - Ensembl - ENSG00000106397 - - - Genatlas - PLOD3 - - - HGNC - 9083 - - - OMIM - 603066 - - - Reactome - O60568 - - - SwissProt - O60568 - - - ClinVar - PLOD3 - - - - - 7q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 300293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300293 - Transient infantile hypertriglyceridemia and hepatosteatosis - - Disease - - - Disorder - - - - 22226083[PMID] - - glycerol-3-phosphate dehydrogenase 1 - GPD1 - - - - gene with protein product - - - - Ensembl - ENSG00000167588 - - - Genatlas - GPD1 - - - HGNC - 4455 - - - OMIM - 138420 - - - Reactome - P21695 - - - SwissProt - P21695 - - - ClinVar - GPD1 - - - - - 12q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26427795[PMID] - - cAMP responsive element binding protein 3 like 3 - CREB3L3 - - CREB-H - CREBH - cAMP-responsive element-binding protein, hepatic-specific - - - gene with protein product - - - - Ensembl - ENSG00000060566 - - - Genatlas - CREB3L3 - - - HGNC - 18855 - - - OMIM - 611998 - - - SwissProt - Q68CJ9 - - - Reactome - Q68CJ9 - - - ClinVar - CREB3L3 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 300382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300382 - Progeroid and marfanoid aspect-lipodystrophy syndrome - - Disease - - - Disorder - - - - 21594992[PMID]_21594993[PMID] - - fibrillin 1 - FBN1 - - MASS - Marfan syndrome - OCTD - SGS - asprosin - - - gene with protein product - - - - ClinVar - FBN1 - - - Ensembl - ENSG00000166147 - - - Genatlas - FBN1 - - - HGNC - 3603 - - - OMIM - 134797 - - - Reactome - P35555 - - - SwissProt - P35555 - - - - - 15q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 300345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300345 - Autosomal systemic lupus erythematosus - - Disease - - - Disorder - - - - 15032584[PMID] - - complement C1q A chain - C1QA - - - - gene with protein product - - - - Ensembl - ENSG00000173372 - - - Genatlas - C1QA - - - HGNC - 1241 - - - OMIM - 120550 - - - Reactome - P02745 - - - SwissProt - P02745 - - - ClinVar - C1QA - - - - - 1p36.12 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 15032584[PMID] - - complement C4A (Chido/Rodgers blood group) - C4A - - C4 - C4A2 - C4A3 - C4A4 - C4A6 - C4B - C4S - CO4 - CPAMD2 - RG - - - gene with protein product - - - - ClinVar - C4A - - - Ensembl - ENSG00000244731 - - - Genatlas - C4A - - - HGNC - 1323 - - - OMIM - 120810 - - - Reactome - P0C0L4 - - - SwissProt - P0C0L4 - - - - - 6p21.33 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22019780[PMID] - - deoxyribonuclease 1L3 - DNASE1L3 - - DNaseY - LS-DNase - DNAS1L3 - DNase gamma - LSD - D3 - - - gene with protein product - - - - Ensembl - ENSG00000163687 - - - Genatlas - DNASE1L3 - - - HGNC - 2959 - - - OMIM - 602244 - - - SwissProt - Q13609 - - - ClinVar - DNASE1L3 - - - - - 3p14.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 28544690[PMID] - - complement C1r - C1R - - - - gene with protein product - - - - Ensembl - ENSG00000159403 - - - Genatlas - C1R - - - HGNC - 1246 - - - IUPHAR - 2334 - - - OMIM - 613785 - - - Reactome - P00736 - - - SwissProt - P00736 - - - ClinVar - C1R - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 11479590[PMID] - - deoxyribonuclease 1 - DNASE1 - - - - gene with protein product - - - - ClinVar - DNASE1 - - - Ensembl - ENSG00000213918 - - - Genatlas - DNASE1 - - - HGNC - 2956 - - - OMIM - 125505 - - - SwissProt - P24855 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 300359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300359 - PLCG2-associated antibody deficiency and immune dysregulation - - Disease - - - Disorder - - - - 22236196[PMID]_23000145[PMID] - - phospholipase C gamma 2 - PLCG2 - - - - gene with protein product - - - - IUPHAR - 1408 - - - Ensembl - ENSG00000197943 - - - Genatlas - PLCG2 - - - HGNC - 9066 - - - OMIM - 600220 - - - Reactome - P16885 - - - SwissProt - P16885 - - - ClinVar - PLCG2 - - - - - 16q24.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 300333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300333 - Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome - - Disease - - - Disorder - - - - 15265795[PMID] - - CD151 molecule (Raph blood group) - CD151 - - PETA-3 - RAPH - SFA-1 - TSPAN24 - - - gene with protein product - - - - SwissProt - P48509 - - - Ensembl - ENSG00000177697 - - - Genatlas - CD151 - - - HGNC - 1630 - - - OMIM - 602243 - - - Reactome - P48509 - - - ClinVar - CD151 - - - - - 11p15.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 464724 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464724 - Fever-associated acute infantile liver failure syndrome - - Disease - - - Disorder - - - - 26073778[PMID] - - NBAS subunit of NRZ tethering complex - NBAS - - NAG - - - gene with protein product - - - - Reactome - A2RRP1 - - - ClinVar - NBAS - - - HGNC - 15625 - - - OMIM - 608025 - - - SwissProt - A2RRP1 - - - Ensembl - ENSG00000151779 - - - Genatlas - NBAS - - - - - 2p24.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 31204009[PMID] - - RAD50 interactor 1 - RINT1 - - FLJ11785 - RINT-1 - - - gene with protein product - - - - HGNC - 21876 - - - SwissProt - Q6NUQ1 - - - Ensembl - ENSG00000135249 - - - Genatlas - RINT1 - - - ClinVar - RINT1 - - - OMIM - 610089 - - - - - 7q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 464738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464738 - Basel-Vanagaite-Smirin-Yosef syndrome - - Malformation syndrome - - - Disorder - - - - 25792360[PMID] - - mediator complex subunit 25 - MED25 - - ACID1 - ARC92 - DKFZp434K0512 - TCBAP0758 - - - gene with protein product - - - - ClinVar - MED25 - - - Ensembl - ENSG00000104973 - - - Genatlas - MED25 - - - HGNC - 28845 - - - OMIM - 610197 - - - Reactome - Q71SY5 - - - SwissProt - Q71SY5 - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 464760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464760 - Familial cavitary optic disc anomaly - - Morphological anomaly - - - Disorder - - - - 25581579[PMID] - - matrix metallopeptidase 19 - MMP19 - - RASI-1 - - - gene with protein product - - - - HGNC - 7165 - - - OMIM - 601807 - - - Genatlas - MMP19 - - - SwissProt - Q99542 - - - Reactome - Q99542 - - - Ensembl - ENSG00000123342 - - - IUPHAR - 1642 - - - ClinVar - MMP19 - - - - - 12q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 464756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464756 - Familial gastric type 1 neuroendocrine tumor - - Disease - - - Disorder - - - - 25678551[PMID] - - ATPase H+/K+ transporting subunit alpha - ATP4A - - ATP6A - gastric H,K-ATPase alpha subunit - H(+)-K(+)-ATPase alpha subunit - proton pump - - - gene with protein product - - - - ClinVar - ATP4A - - - HGNC - 819 - - - OMIM - 137216 - - - Genatlas - ATP4A - - - SwissProt - P20648 - - - Reactome - P20648 - - - Ensembl - ENSG00000105675 - - - IUPHAR - 849 - - - - - 19q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 465508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465508 - Symptomatic form of HFE-related hemochromatosis - - Disease - - - Disorder - - - - 20301613[PMID] - - homeostatic iron regulator - HFE - - HLA-H - high Fe - HFE1 - - - gene with protein product - - - - OMIM - 613609 - - - SwissProt - Q30201 - - - Ensembl - ENSG00000010704 - - - Genatlas - HFE - - - HGNC - 4886 - - - Reactome - Q30201 - - - ClinVar - HFE - - - - - 6p22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28335084[PMID] - - bone morphogenetic protein 6 - BMP6 - - VGR1 - - - gene with protein product - - - - Ensembl - ENSG00000153162 - - - HGNC - 1073 - - - ClinVar - BMP6 - - - OMIM - 112266 - - - Genatlas - BMP6 - - - SwissProt - P22004 - - - - - 6p24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 464282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464282 - Spastic paraplegia-severe developmental delay-epilepsy syndrome - - Disease - - - Disorder - - - - 26424145[PMID]_26437029[PMID] - - HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 - HACE1 - - KIAA1320 - - - gene with protein product - - - - Reactome - Q8IYU2 - - - HGNC - 21033 - - - OMIM - 610876 - - - SwissProt - Q8IYU2 - - - Ensembl - ENSG00000085382 - - - Genatlas - HACE1 - - - ClinVar - HACE1 - - - - - 6q16.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 464288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464288 - Short stature-brachydactyly-obesity-global developmental delay syndrome - - Malformation syndrome - - - Disorder - - - - 26437029[PMID] - - protein arginine methyltransferase 7 - PRMT7 - - FLJ10640 - KIAA1933 - - - gene with protein product - - - - ClinVar - PRMT7 - - - HGNC - 25557 - - - OMIM - 610087 - - - Genatlas - PRMT7 - - - SwissProt - Q9NVM4 - - - Reactome - Q9NVM4 - - - Ensembl - ENSG00000132600 - - - IUPHAR - 1258 - - - - - 16q22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 464311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464311 - Intellectual disability syndrome due to a DYRK1A point mutation - - Etiological subtype - - - Subtype of disorder - - - - 25944381[PMID]_25641759[PMID]_26677511[PMID] - - dual specificity tyrosine phosphorylation regulated kinase 1A - DYRK1A - - - - gene with protein product - - - - ClinVar - DYRK1A - - - IUPHAR - 2009 - - - OMIM - 600855 - - - Reactome - Q13627 - - - SwissProt - Q13627 - - - Ensembl - ENSG00000157540 - - - Genatlas - DYRK1A - - - HGNC - 3091 - - - - - 21q22.13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 464366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464366 - NEK9-related lethal skeletal dysplasia - - Malformation syndrome - - - Disorder - - - - 26908619[PMID] - - NIMA related kinase 9 - NEK9 - - DKFZp434D0935 - MGC16714 - Nek8 - NERCC - NERCC1 - - - gene with protein product - - - - HGNC - 18591 - - - OMIM - 609798 - - - Genatlas - NEK9 - - - SwissProt - Q8TD19 - - - Reactome - Q8TD19 - - - Ensembl - ENSG00000119638 - - - IUPHAR - 2124 - - - ClinVar - NEK9 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 464336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464336 - BENTA disease - - Disease - - - Disorder - - - - 23129749[PMID]_25352053[PMID]_25930198[PMID] - - caspase recruitment domain family member 11 - CARD11 - - BIMP3 - CARMA1 - bcl10-interacting maguk protein 3 - card-maguk protein 1 - - - gene with protein product - - - - ClinVar - CARD11 - - - Ensembl - ENSG00000198286 - - - Genatlas - CARD11 - - - HGNC - 16393 - - - OMIM - 607210 - - - Reactome - Q9BXL7 - - - SwissProt - Q9BXL7 - - - - - 7p22.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 464443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464443 - COG6-CGD - - Disease - - - Disorder - - - - 23430903[PMID]_26260076[PMID] - - component of oligomeric golgi complex 6 - COG6 - - COD2 - KIAA1134 - - - gene with protein product - - - - Ensembl - ENSG00000133103 - - - Genatlas - COG6 - - - HGNC - 18621 - - - OMIM - 606977 - - - Reactome - Q9Y2V7 - - - SwissProt - Q9Y2V7 - - - ClinVar - COG6 - - - - - 13q14.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 464440 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464440 - Primary dystonia, DYT27 type - - Disease - - - Disorder - - - - 26004199[PMID] - - collagen type VI alpha 3 chain - COL6A3 - - - - gene with protein product - - - - ClinVar - COL6A3 - - - Ensembl - ENSG00000163359 - - - Genatlas - COL6A3 - - - HGNC - 2213 - - - OMIM - 120250 - - - Reactome - P12111 - - - SwissProt - P12111 - - - - - 2q37.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 464370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464370 - Neonatal alloimmune neutropenia - - Disease - - - Disorder - - - - - - Fc fragment of IgG receptor IIIb - FCGR3B - - CD16 - CD16b - Fc gamma receptor IIIb - FcRIIIb - FcgammaRIIIb - - - gene with protein product - - - - ClinVar - FCGR3B - - - Ensembl - ENSG00000162747 - - - Genatlas - FCGR3B - - - HGNC - 3620 - - - OMIM - 610665 - - - SwissProt - O75015 - - - Reactome - O75015 - - - - - 1q23.3 - 1 - - - - - Biomarker tested in - - - Assessed - - - - - - 456328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456328 - X-linked myotubular myopathy-abnormal genitalia syndrome - - Disease - - - Disorder - - - - 9169146[PMID]_26580071[PMID] - - mastermind like domain containing 1 - MAMLD1 - - CG1 - F18 - - - gene with protein product - - - - ClinVar - MAMLD1 - - - Ensembl - ENSG00000013619 - - - Genatlas - MAMLD1 - - - HGNC - 2568 - - - OMIM - 300120 - - - Reactome - Q13495 - - - SwissProt - Q13495 - - - - - Xq28 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 8789451[PMID] - - myotubularin 1 - MTM1 - - - - gene with protein product - - - - ClinVar - MTM1 - - - Ensembl - ENSG00000171100 - - - Genatlas - MTM1 - - - HGNC - 7448 - - - OMIM - 300415 - - - Reactome - Q13496 - - - SwissProt - Q13496 - - - - - Xq28 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 456333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456333 - Hereditary neuroendocrine tumor of small intestine - - Disease - - - Disorder - - - - 25865046[PMID] - - inositol polyphosphate multikinase - IPMK - - - - gene with protein product - - - - HGNC - 20739 - - - OMIM - 609851 - - - Genatlas - IPMK - - - SwissProt - Q8NFU5 - - - Reactome - Q8NFU5 - - - Ensembl - ENSG00000151151 - - - ClinVar - IPMK - - - - - 10q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 456312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456312 - Infantile multisystem neurologic-endocrine-pancreatic disease - - Disease - - - Disorder - - - - 25574476[PMID] - - peptidyl-tRNA hydrolase 2 - PTRH2 - - Bcl-2 inhibitor of transcription - BIT1 - CFAP37 - CGI-147 - cilia and flagella associated protein 37 - PTH2 - - - gene with protein product - - - - HGNC - 24265 - - - OMIM - 608625 - - - Genatlas - PTRH2 - - - SwissProt - Q9Y3E5 - - - Ensembl - ENSG00000141378 - - - ClinVar - PTRH2 - - - Reactome - Q9Y3E5 - - - - - 17q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 456318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456318 - Hereditary sensory neuropathy-deafness-dementia syndrome - - Disease - - - Disorder - - - - 21532572[PMID]_23365052[PMID] - - DNA methyltransferase 1 - DNMT1 - - CXXC9 - MCMT - - - gene with protein product - - - - ClinVar - DNMT1 - - - Ensembl - ENSG00000130816 - - - Genatlas - DNMT1 - - - HGNC - 2976 - - - IUPHAR - 2605 - - - OMIM - 126375 - - - Reactome - P26358 - - - SwissProt - P26358 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 454840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454840 - NTHL1-related polyposis - - Disease - - - Disorder - - - - 25938944[PMID]_26559593[PMID] - - nth like DNA glycosylase 1 - NTHL1 - - OCTS3 - NTH1 - - - gene with protein product - - - - ClinVar - NTHL1 - - - HGNC - 8028 - - - OMIM - 602656 - - - Genatlas - NTHL1 - - - SwissProt - P78549 - - - Reactome - P78549 - - - Ensembl - ENSG00000065057 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 454745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454745 - Kuru - - Disease - - - Disorder - - - - 11120925[PMID] - - prion protein (Kanno blood group) - PRNP - - AltPrP - CD230 - Creutzfeldt-Jakob disease - Gerstmann-Strausler-Scheinker syndrome - PRP - fatal familial insomnia - p27-30 - - - gene with protein product - - - - ClinVar - PRNP - - - Ensembl - ENSG00000171867 - - - Genatlas - PRNP - - - HGNC - 9449 - - - OMIM - 176640 - - - Reactome - P04156 - - - SwissProt - P04156 - - - - - 20p13 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 453533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453533 - Polyendocrine-polyneuropathy syndrome - - Disease - - - Disorder - - - - 25248098[PMID] - - Dmx like 2 - DMXL2 - - DFNA71 - KIAA0856 - rabconnectin 3 - RC3 - - - gene with protein product - - - - HGNC - 2938 - - - OMIM - 612186 - - - Genatlas - DMXL2 - - - SwissProt - Q8TDJ6 - - - Ensembl - ENSG00000104093 - - - ClinVar - DMXL2 - - - - - 15q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 453521 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453521 - Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency - - Disease - - - Disorder - - - - 25361784[PMID] - - CWF19 like cell cycle control factor 1 - CWF19L1 - - human Dbr1 associated ribonuclease 1 - FLJ10998 - hDrn1 - - - gene with protein product - - - - SwissProt - Q69YN2 - - - Ensembl - ENSG00000095485 - - - HGNC - 25613 - - - OMIM - 616120 - - - Genatlas - CWF19L1 - - - ClinVar - CWF19L1 - - - - - 10q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 451612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451612 - Familial congenital nasolacrimal duct obstruction - - Morphological anomaly - - - Disorder - - - - 24372406[PMID] - - immunoglobulin superfamily member 3 - IGSF3 - - EWI-3 - MGC117164 - V8 - - - gene with protein product - - - - Ensembl - ENSG00000143061 - - - Genatlas - IGSF3 - - - HGNC - 5950 - - - OMIM - 603491 - - - SwissProt - O75054 - - - ClinVar - IGSF3 - - - - - 1p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 453504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453504 - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation - - Etiological subtype - - - Subtype of disorder - - - - 26173930[PMID] - - heterogeneous nuclear ribonucleoprotein K - HNRNPK - - CSBP - transformation upregulated nuclear protein - TUNP - - - gene with protein product - - - - HGNC - 5044 - - - OMIM - 600712 - - - Genatlas - HNRNPK - - - SwissProt - P61978 - - - Reactome - P61978 - - - Ensembl - ENSG00000165119 - - - ClinVar - HNRNPK - - - - - 9q21.32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 453510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453510 - Congenital insensitivity to pain with severe intellectual disability - - Disease - - - Disorder - - - - 26068709[PMID] - - clathrin heavy chain like 1 - CLTCL1 - - CHC22 - CLH22 - CLTD - - - gene with protein product - - - - HGNC - 2093 - - - OMIM - 601273 - - - Genatlas - CLTCL1 - - - SwissProt - P53675 - - - Reactome - P53675 - - - Ensembl - ENSG00000070371 - - - ClinVar - CLTCL1 - - - - - 22q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 448264 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448264 - Isolated focal non-epidermolytic palmoplantar keratoderma - - Disease - - - Disorder - - - - 25285920[PMID] - - transient receptor potential cation channel subfamily V member 3 - TRPV3 - - VRL3 - - - gene with protein product - - - - Ensembl - ENSG00000167723 - - - Genatlas - TRPV3 - - - HGNC - 18084 - - - IUPHAR - 509 - - - OMIM - 607066 - - - Reactome - Q8NET8 - - - SwissProt - Q8NET8 - - - ClinVar - TRPV3 - - - - - 17p13.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 8595410[PMID] - - keratin 16 - KRT16 - - NEPPK - focal non-epidermolytic palmoplantar keratoderma - - - gene with protein product - - - - ClinVar - KRT16 - - - Ensembl - ENSG00000186832 - - - Genatlas - KRT16 - - - HGNC - 6423 - - - OMIM - 148067 - - - SwissProt - P08779 - - - Reactome - P08779 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 448251 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448251 - Progressive autosomal recessive ataxia-deafness syndrome - - Disease - - - Disorder - - - - 25205112[PMID] - - solute carrier family 9 member A1 - SLC9A1 - - PPP1R143 - protein phosphatase 1, regulatory subunit 143 - Sodium/hydrogen exchanger 1 - - - gene with protein product - - - - ClinVar - SLC9A1 - - - HGNC - 11071 - - - OMIM - 107310 - - - Genatlas - SLC9A1 - - - SwissProt - P19634 - - - Reactome - P19634 - - - Ensembl - ENSG00000090020 - - - IUPHAR - 948 - - - - - 1p36.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 448267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448267 - Regressive spondylometaphyseal dysplasia - - Malformation syndrome - - - Disorder - - - - 25348816[PMID]_23824842[PMID] - - lamin B receptor - LBR - - DHCR14B - TDRD18 - tudor domain containing 18 - - - gene with protein product - - - - ClinVar - LBR - - - OMIM - 600024 - - - Reactome - Q14739 - - - SwissProt - Q14739 - - - Ensembl - ENSG00000143815 - - - Genatlas - LBR - - - HGNC - 6518 - - - - - 1q42.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 448010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448010 - CAD-CDG - - Disease - - - Disorder - - - - 25678555[PMID] - - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase - CAD - - GATD4 - - - gene with protein product - - - - ClinVar - CAD - - - Genatlas - CAD - - - Ensembl - ENSG00000084774 - - - HGNC - 1424 - - - OMIM - 114010 - - - SwissProt - P27708 - - - Reactome - P27708 - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 447997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447997 - Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome - - Disease - - - Disorder - - - - 25930971[PMID]_26041762[PMID]_26138499[PMID] - - solute carrier family 1 member 4 - SLC1A4 - - ASCT-1 - neutral amino acid transporter A - alanine/serine/cysteine/threonine transporter - ASCT1 - SATT - - - gene with protein product - - - - ClinVar - SLC1A4 - - - HGNC - 10942 - - - OMIM - 600229 - - - Genatlas - SLC1A4 - - - SwissProt - P43007 - - - Reactome - P43007 - - - Ensembl - ENSG00000115902 - - - IUPHAR - 873 - - - - - 2p14 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 448242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448242 - Autosomal recessive brachyolmia - - Malformation syndrome - - - Disorder - - - - 22791835[PMID] - - 3'-phosphoadenosine 5'-phosphosulfate synthase 2 - PAPSS2 - - bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 - sulfate adenylyltransferase - ATPSK2 - adenylyl-sulfate kinase - adenosine 5'-phosphosulfate kinase - PAPS synthase 2 - - - gene with protein product - - - - Ensembl - ENSG00000198682 - - - Genatlas - PAPSS2 - - - HGNC - 8604 - - - OMIM - 603005 - - - Reactome - O95340 - - - SwissProt - O95340 - - - ClinVar - PAPSS2 - - - - - 10q23.2-q23.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 447977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447977 - Progressive scapulohumeroperoneal distal myopathy - - Disease - - - Disorder - - - - 25938801[PMID] - - actin alpha 1, skeletal muscle - ACTA1 - - NEM3 - nemaline myopathy type 3 - - - gene with protein product - - - - ClinVar - ACTA1 - - - OMIM - 102610 - - - Reactome - P68133 - - - SwissProt - P68133 - - - Ensembl - ENSG00000143632 - - - Genatlas - ACTA1 - - - HGNC - 129 - - - - - 1q42.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 447974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447974 - Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - 25748484[PMID] - - myosin XVIIIB - MYO18B - - BK125H2.1 - - - gene with protein product - - - - HGNC - 18150 - - - OMIM - 607295 - - - Genatlas - MYO18B - - - SwissProt - Q8IUG5 - - - Ensembl - ENSG00000133454 - - - ClinVar - MYO18B - - - - - 22q12.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 447980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447980 - 19p13.3 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - 29184170[PMID] - - nuclear factor I X - NFIX - - NF1A - CCAAT-binding transcription factor - - - gene with protein product - - - - ClinVar - NFIX - - - Ensembl - ENSG00000008441 - - - Genatlas - NFIX - - - HGNC - 7788 - - - OMIM - 164005 - - - Reactome - Q14938 - - - SwissProt - Q14938 - - - - - 19p13.13 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 447954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447954 - Combined oxidative phosphorylation defect type 25 - - Disease - - - Disorder - - - - 25754315[PMID] - - methionyl-tRNA synthetase 2, mitochondrial - MARS2 - - Methionine tRNA ligase 2, mitochondrial - SPAX3 - mtMetRS - methionine tRNA ligase 2, mitochondrial - - - gene with protein product - - - - Ensembl - ENSG00000247626 - - - Genatlas - MARS2 - - - HGNC - 25133 - - - OMIM - 609728 - - - Reactome - Q96GW9 - - - SwissProt - Q96GW9 - - - ClinVar - mars-02 - - - - - 2q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 447964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447964 - Autosomal dominant Charcot-Marie-Tooth disease type 2V - - Disease - - - Disorder - - - - 25818867[PMID] - - N-acetyl-alpha-glucosaminidase - NAGLU - - NAG - Sanfilippo disease IIIB - - - gene with protein product - - - - Ensembl - ENSG00000108784 - - - Genatlas - NAGLU - - - HGNC - 7632 - - - OMIM - 609701 - - - Reactome - P54802 - - - SwissProt - P54802 - - - ClinVar - NAGLU - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 447961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447961 - Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome - - Disease - - - Disorder - - - - 25315659[PMID] - - SAM and SH3 domain containing 1 - SASH1 - - KIAA0790 - SH3D6A - dJ323M4.1 - - - gene with protein product - - - - Ensembl - ENSG00000111961 - - - Genatlas - SASH1 - - - HGNC - 19182 - - - OMIM - 607955 - - - SwissProt - O94885 - - - ClinVar - SASH1 - - - - - 6q24.3-q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 459033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459033 - Ataxia-oculomotor apraxia type 4 - - Disease - - - Disorder - - - - 25728773[PMID] - - polynucleotide kinase 3'-phosphatase - PNKP - - PNK - - - gene with protein product - - - - Ensembl - ENSG00000039650 - - - Genatlas - PNKP - - - HGNC - 9154 - - - OMIM - 605610 - - - Reactome - Q96T60 - - - SwissProt - Q96T60 - - - ClinVar - PNKP - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 459051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459051 - Spondyloepiphyseal dysplasia, Stanescu type - - Disease - - - Disorder - - - - 26183434[PMID] - - collagen type II alpha 1 chain - COL2A1 - - STL1 - - - gene with protein product - - - - ClinVar - COL2A1 - - - Ensembl - ENSG00000139219 - - - Genatlas - COL2A1 - - - HGNC - 2200 - - - OMIM - 120140 - - - Reactome - P02458 - - - SwissProt - P02458 - - - - - 12q13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 459061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459061 - Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - 26220823[PMID] - - diphthamide biosynthesis 1 - DPH1 - - ovarian tumor suppressor candidate 1 - OVCA1 - - - gene with protein product - - - - ClinVar - DPH1 - - - HGNC - 3003 - - - OMIM - 603527 - - - Genatlas - DPH1 - - - SwissProt - Q9BZG8 - - - Reactome - Q9BZG8 - - - Ensembl - ENSG00000108963 - - - - - 17p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32576952[PMID] - - diphthamide biosynthesis 2 - DPH2 - - 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 - - - gene with protein product - - - - HGNC - 3004 - - - OMIM - 603456 - - - SwissProt - Q9BQC3 - - - Ensembl - ENSG00000132768 - - - - - 1p34.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 459056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459056 - Autosomal recessive spastic paraplegia type 75 - - Disease - - - Disorder - - - - 26179919[PMID] - - myelin associated glycoprotein - MAG - - S-MAG - sialic acid binding Ig-like lectin 4A - SIGLEC-4A - SIGLEC4A - SIGLEC4 - - - gene with protein product - - - - ClinVar - MAG - - - HGNC - 6783 - - - OMIM - 159460 - - - Genatlas - MAG - - - SwissProt - P20916 - - - Reactome - P20916 - - - Ensembl - ENSG00000105695 - - - - - 19q13.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 459070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459070 - X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome - - Malformation syndrome - - - Disorder - - - - 26290468[PMID] - - ribosomal protein L10 - RPL10 - - DXS648 - DXS648E - FLJ23544 - L10 - NOV - QM - uL16 - - - gene with protein product - - - - ClinVar - RPL10 - - - Ensembl - ENSG00000147403 - - - Genatlas - RPL10 - - - HGNC - 10298 - - - OMIM - 312173 - - - Reactome - P27635 - - - SwissProt - P27635 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 458798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458798 - Spinocerebellar ataxia type 41 - - Disease - - - Disorder - - - - 25477146[PMID] - - transient receptor potential cation channel subfamily C member 3 - TRPC3 - - - - gene with protein product - - - - OMIM - 602345 - - - Genatlas - TRPC3 - - - HGNC - 12335 - - - SwissProt - Q13507 - - - Reactome - Q13507 - - - Ensembl - ENSG00000138741 - - - IUPHAR - 488 - - - ClinVar - TRPC3 - - - - - 4q27 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 458803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458803 - Spinocerebellar ataxia type 42 - - Disease - - - Disorder - - - - 26456284[PMID]_26715324[PMID] - - calcium voltage-gated channel subunit alpha1 G - CACNA1G - - Cav3.1 - NBR13 - - - gene with protein product - - - - ClinVar - CACNA1G - - - HGNC - 1394 - - - OMIM - 604065 - - - Genatlas - CACNA1G - - - SwissProt - O43497 - - - Reactome - O43497 - - - Ensembl - ENSG00000006283 - - - IUPHAR - 535 - - - - - 17q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 457485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457485 - Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome - - Malformation syndrome - - - Disorder - - - - 25851998[PMID]_26542245[PMID] - - mechanistic target of rapamycin kinase - MTOR - - FK506 binding protein 12-rapamycin associated protein 2 - FKBP-rapamycin associated protein - FKBP12-rapamycin complex-associated protein 1 - FLJ44809 - RAFT1 - RAPT1 - dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1) - mammalian target of rapamycin - rapamycin and FKBP12 target 1 - rapamycin associated protein FRAP2 - rapamycin target protein - - - gene with protein product - - - - Ensembl - ENSG00000198793 - - - Genatlas - MTOR - - - HGNC - 3942 - - - IUPHAR - 2109 - - - OMIM - 601231 - - - Reactome - P42345 - - - SwissProt - P42345 - - - ClinVar - MTOR - - - - - 1p36.22 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 457265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457265 - Progressive myoclonic epilepsy type 9 - - Disease - - - Disorder - - - - 25954030[PMID] - - lamin B2 - LMNB2 - - - - gene with protein product - - - - Ensembl - ENSG00000176619 - - - Genatlas - LMNB2 - - - HGNC - 6638 - - - OMIM - 150341 - - - SwissProt - Q03252 - - - Reactome - Q03252 - - - ClinVar - LMNB2 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 457279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457279 - Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome - - Malformation syndrome - - - Disorder - - - - 26168268[PMID] - - protein phosphatase 2 regulatory subunit B'delta - PPP2R5D - - B56delta - B56D - Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform - - - gene with protein product - - - - ClinVar - PPP2R5D - - - HGNC - 9312 - - - OMIM - 601646 - - - Genatlas - PPP2R5D - - - SwissProt - Q14738 - - - Reactome - Q14738 - - - Ensembl - ENSG00000112640 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 457260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457260 - X-linked intellectual disability-hypotonia-movement disorder syndrome - - Disease - - - Disorder - - - - 26235985[PMID] - - DEAD-box helicase 3 X-linked - DDX3X - - DBX - DDX14 - HLP2 - Helicase-like protein 2 - CAP-Rf - - - gene with protein product - - - - Ensembl - ENSG00000215301 - - - Genatlas - DDX3X - - - HGNC - 2745 - - - OMIM - 300160 - - - SwissProt - O00571 - - - Reactome - O00571 - - - ClinVar - DDX3X - - - - - Xp11.4 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 457240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457240 - X-linked intellectual disability-short stature-overweight syndrome - - Malformation syndrome - - - Disorder - - - - 26166480[PMID] - - THO complex subunit 2 - THOC2 - - dJ506G2.1 - THO2 - - - gene with protein product - - - - ClinVar - THOC2 - - - HGNC - 19073 - - - OMIM - 300395 - - - Genatlas - THOC2 - - - SwissProt - Q8NI27 - - - Reactome - Q8NI27 - - - Ensembl - ENSG00000125676 - - - - - Xq25 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 457246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457246 - Clear cell sarcoma of kidney - - Disease - - - Disorder - - - - 26098867[PMID] - - BCL6 corepressor - BCOR - - BCL-6 coreceptor - BCL6 interacting corepressor - FLJ20285 - KIAA1575 - - - gene with protein product - - - - Reactome - Q6W2J9 - - - ClinVar - BCOR - - - Genatlas - BCOR - - - HGNC - 20893 - - - OMIM - 300485 - - - SwissProt - Q6W2J9 - - - Ensembl - ENSG00000183337 - - - - - Xp11.4 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 22294382[PMID] - - tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon - YWHAE - - 14-3-3 epsilon - FLJ45465 - - - gene with protein product - - - - ClinVar - YWHAE - - - Ensembl - ENSG00000108953 - - - Genatlas - YWHAE - - - HGNC - 12851 - - - OMIM - 605066 - - - Reactome - P62258 - - - SwissProt - P62258 - - - - - 17p13.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 22294382[PMID] - - NUT family member 2B - NUTM2B - - bA119F19.1 - - - gene with protein product - - - - OMIM - - - - ClinVar - FAM22B - - - Ensembl - ENSG00000188199 - - - Genatlas - FAM22B - - - HGNC - 23445 - - - SwissProt - A6NNL0 - - - - - 10q22.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 22294382[PMID] - - NUT family member 2E - NUTM2E - - - - gene with protein product - - - - ClinVar - FAM22E - - - OMIM - - - - SwissProt - B1AL46 - - - Ensembl - ENSG00000228570 - - - HGNC - 23448 - - - Genatlas - FAM22E - - - - - 10q22.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 25481751[PMID]_26493387[PMID] - - telomerase reverse transcriptase - TERT - - EST2 - TCS1 - TP2 - TRT - hEST2 - - - gene with protein product - - - - Ensembl - ENSG00000164362 - - - Genatlas - TERT - - - HGNC - 11730 - - - OMIM - 187270 - - - Reactome - O14746 - - - SwissProt - O14746 - - - ClinVar - TERT - - - - - 5p15.33 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 25481751[PMID]_26493387[PMID] - - iroquois homeobox 2 - IRX2 - - - - gene with protein product - - - - ClinVar - IRX2 - - - HGNC - 14359 - - - OMIM - 606198 - - - Genatlas - IRX2 - - - SwissProt - Q9BZI1 - - - Ensembl - ENSG00000170561 - - - - - 5p15.33 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 457395 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457395 - Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - 26365341[PMID] - - ring finger and SPRY domain containing 1 - RSPRY1 - - KIAA1972 - - - gene with protein product - - - - ClinVar - RSPRY1 - - - HGNC - 29420 - - - OMIM - 616585 - - - Genatlas - RSPRY1 - - - SwissProt - Q96DX4 - - - Ensembl - ENSG00000159579 - - - - - 16q13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 457406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457406 - Multiple mitochondrial dysfunctions syndrome type 4 - - Disease - - - Disorder - - - - 25539947[PMID] - - iron-sulfur cluster assembly 2 - ISCA2 - - ISA2 - - - gene with protein product - - - - HGNC - 19857 - - - OMIM - 615317 - - - Genatlas - ISCA2 - - - SwissProt - Q86U28 - - - Ensembl - ENSG00000165898 - - - Reactome - Q86U28 - - - ClinVar - ISCA2 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 457375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457375 - ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement - - Disease - - - Disorder - - - - 26224535[PMID] - - inosine triphosphatase - ITPA - - HLC14-06-P - dJ794I6.3 - nucleoside-triphosphate diphosphatase - - - gene with protein product - - - - ClinVar - ITPA - - - Ensembl - ENSG00000125877 - - - Genatlas - ITPA - - - HGNC - 6176 - - - OMIM - 147520 - - - Reactome - Q9BY32 - - - SwissProt - Q9BY32 - - - - - 20p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 457378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457378 - Complex lethal osteochondrodysplasia - - Malformation syndrome - - - Disorder - - - - 26365339[PMID] - - transmembrane anterior posterior transformation 1 - TAPT1 - - FLJ90013 - - - gene with protein product - - - - ClinVar - TAPT1 - - - HGNC - 26887 - - - OMIM - 612758 - - - Genatlas - TAPT1 - - - SwissProt - Q6NXT6 - - - Ensembl - ENSG00000169762 - - - - - 4p15.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 457359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457359 - Megalencephaly-severe kyphoscoliosis-overgrowth syndrome - - Malformation syndrome - - - Disorder - - - - 26138117[PMID]_27108999[PMID] - - HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 - HERC1 - - p532 - p619 - - - gene with protein product - - - - HGNC - 4867 - - - OMIM - 605109 - - - Genatlas - HERC1 - - - SwissProt - Q15751 - - - Reactome - Q15751 - - - Ensembl - ENSG00000103657 - - - ClinVar - HERC1 - - - - - 15q22.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 457284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457284 - Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - 26168268[PMID] - - protein phosphatase 2 scaffold subunit Aalpha - PPP2R1A - - PP2AA - PP2A-Aalpha - PR65A - protein phosphatase 2, 65kDa regulatory subunit A - protein phosphatase 2A, regulatory subunit A, alpha isoform - Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform - protein phosphatase 2A structural subunit A, alpha isoform - - - gene with protein product - - - - ClinVar - PPP2R1A - - - HGNC - 9302 - - - OMIM - 605983 - - - Genatlas - PPP2R1A - - - SwissProt - P30153 - - - Reactome - P30153 - - - Ensembl - ENSG00000105568 - - - - - 19q13.41 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 457351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457351 - Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome - - Malformation syndrome - - - Disorder - - - - 26299366[PMID] - - AFG2 AAA ATPase homolog A - AFG2A - - AFG2 - ATPase family gene 2 homolog (S. cerevisiae) - SPAF - - - gene with protein product - - - - HGNC - 18119 - - - OMIM - 613940 - - - Genatlas - SPATA5 - - - SwissProt - Q8NB90 - - - Ensembl - ENSG00000145375 - - - ClinVar - SPATA5 - - - - - 4q28.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 457185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457185 - Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome - - Disease - - - Disorder - - - - 25658047[PMID]_26185144[PMID] - - coenzyme Q4 - COQ4 - - CGI-92 - - - gene with protein product - - - - OMIM - 612898 - - - HGNC - 19693 - - - Genatlas - COQ4 - - - SwissProt - Q9Y3A0 - - - Ensembl - ENSG00000167113 - - - ClinVar - COQ4 - - - - - 9q34.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 457088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457088 - Predisposition to invasive fungal disease due to CARD9 deficiency - - Disease - - - Disorder - - - - 19864672[PMID]_24131138[PMID] - - caspase recruitment domain family member 9 - CARD9 - - - - gene with protein product - - - - Ensembl - ENSG00000187796 - - - Genatlas - CARD9 - - - HGNC - 16391 - - - OMIM - 607212 - - - Reactome - Q9H257 - - - SwissProt - Q9H257 - - - ClinVar - CARD9 - - - - - 9q34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 457223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457223 - Syndromic sensorineural deafness due to combined oxidative phosphorylation defect - - Disease - - - Disorder - - - - 25556185[PMID] - - mitochondrial ribosomal protein S7 - MRPS7 - - MRP-S - RP-S7 - RPMS7 - uS7m - - - gene with protein product - - - - ClinVar - MRPS7 - - - HGNC - 14499 - - - OMIM - 611974 - - - Genatlas - MRPS7 - - - SwissProt - Q9Y2R9 - - - Reactome - Q9Y2R9 - - - Ensembl - ENSG00000125445 - - - - - 17q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 457212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457212 - Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome - - Disease - - - Disorder - - - - 25704603[PMID] - - solute carrier family 6 member 17 - SLC6A17 - - neurotransmitter transporter 4 - NTT4 - Sodium-dependent neutral amino acid transporter SLC6A17 - - - gene with protein product - - - - ClinVar - SLC6A17 - - - Ensembl - ENSG00000197106 - - - Genatlas - SLC6A17 - - - HGNC - 31399 - - - IUPHAR - 943 - - - OMIM - 610299 - - - SwissProt - Q9H1V8 - - - - - 1p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 457193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457193 - KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome - - Malformation syndrome - - - Disorder - - - - 25728775[PMID]_25728777[PMID] - - lysine acetyltransferase 6A - KAT6A - - MOZ - Monocytic leukemia zinc finger protein - ZC2HC6A - - - gene with protein product - - - - Ensembl - ENSG00000083168 - - - Genatlas - KAT6A - - - HGNC - 13013 - - - OMIM - 601408 - - - Reactome - Q92794 - - - SwissProt - Q92794 - - - IUPHAR - 2665 - - - ClinVar - KAT6A - - - - - 8p11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 456369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456369 - Polyglucosan body myopathy type 2 - - Disease - - - Disorder - - - - 25272951[PMID] - - glycogenin 1 - GYG1 - - glycogenin glucosyltransferase - - - gene with protein product - - - - ClinVar - GYG1 - - - Ensembl - ENSG00000163754 - - - Genatlas - GYG1 - - - HGNC - 4699 - - - OMIM - 603942 - - - Reactome - P46976 - - - SwissProt - P46976 - - - - - 3q24 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 457050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457050 - Autosomal dominant mitochondrial myopathy with exercise intolerance - - Disease - - - Disorder - - - - 25193783[PMID] - - coiled-coil-helix-coiled-coil-helix domain containing 10 - CHCHD10 - - MIX17 homolog A - MIX17A - N27C7-4 - - - gene with protein product - - - - Reactome - Q8WYQ3 - - - ClinVar - CHCHD10 - - - Ensembl - ENSG00000250479 - - - Genatlas - CHCHD10 - - - HGNC - 15559 - - - OMIM - 615903 - - - SwissProt - Q8WYQ3 - - - - - 22q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 317 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317 - Erythrokeratodermia variabilis - - Disease - - - Disorder - - - - 25398053[PMID] - - gap junction protein alpha 1 - GJA1 - - CX43 - ODD - ODOD - SDTY3 - connexin 43 - oculodentodigital dysplasia (syndactyly type III) - - - gene with protein product - - - - ClinVar - GJA1 - - - Ensembl - ENSG00000152661 - - - Genatlas - GJA1 - - - HGNC - 4274 - - - OMIM - 121014 - - - Reactome - P17302 - - - SwissProt - P17302 - - - IUPHAR - 728 - - - - - 6q22.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23037955[PMID] - - gap junction protein beta 4 - GJB4 - - CX30.3 - connexin 30.3 - - - gene with protein product - - - - Ensembl - ENSG00000189433 - - - Genatlas - GJB4 - - - HGNC - 4286 - - - OMIM - 605425 - - - Reactome - Q9NTQ9 - - - SwissProt - Q9NTQ9 - - - ClinVar - GJB4 - - - IUPHAR - 719 - - - - - 1p34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21564177[PMID] - - gap junction protein beta 3 - GJB3 - - CX31 - connexin 31 - - - gene with protein product - - - - HGNC - 4285 - - - OMIM - 603324 - - - Reactome - O75712 - - - SwissProt - O75712 - - - ClinVar - GJB3 - - - Ensembl - ENSG00000188910 - - - Genatlas - GJB3 - - - IUPHAR - 720 - - - - - 1p34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28575652[PMID] - - 3-ketodihydrosphingosine reductase - KDSR - - 3-dehydrosphinganine reductase - DHSR - SDR35C1 - short chain dehydrogenase/reductase family 35C, member 1 - - - gene with protein product - - - - ClinVar - KDSR - - - Ensembl - ENSG00000119537 - - - OMIM - 136440 - - - SwissProt - Q06136 - - - IUPHAR - 2463 - - - HGNC - 4021 - - - Genatlas - KDSR - - - Reactome - R-HSA-428134 - - - - - 18q21.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=629 - Short stature due to growth hormone qualitative anomaly - - Clinical subtype - - - Subtype of disorder - - - - 8552145[PMID]_9276733[PMID]_15713716[PMID] - - growth hormone 1 - GH1 - - GH - GH-N - GHN - hGH-N - pituitary growth hormone - somatotropin - - - gene with protein product - - - - ClinVar - GH1 - - - Ensembl - ENSG00000259384 - - - Genatlas - GH1 - - - HGNC - 4261 - - - OMIM - 139250 - - - Reactome - P01241 - - - SwissProt - P01241 - - - - - 17q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=632 - Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia - - Clinical subtype - - - Subtype of disorder - - - - 8013627[PMID]_9554752[PMID]_22139958[PMID] - - Bruton tyrosine kinase - BTK - - XLA - ATK - Bruton's tyrosine kinase - PSCTK1 - - - gene with protein product - - - - Ensembl - ENSG00000010671 - - - Genatlas - BTK - - - HGNC - 1133 - - - IUPHAR - 1948 - - - OMIM - 300300 - - - Reactome - Q06187 - - - SwissProt - Q06187 - - - ClinVar - BTK - - - - - Xq22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18180883[PMID] - - E74 like ETS transcription factor 4 - ELF4 - - ELFR - MEF - - - gene with protein product - - - - Ensembl - ENSG00000102034 - - - Genatlas - ELF4 - - - HGNC - 3319 - - - OMIM - 300775 - - - SwissProt - Q99607 - - - ClinVar - ELF4 - - - - - Xq26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248 - Autosomal recessive hypohidrotic ectodermal dysplasia - - Etiological subtype - - - Subtype of disorder - - - - - - ectodysplasin A receptor - EDAR - - ED1R - ED5 - EDA1R - EDA3 - Edar - ectodysplasin A1 receptor - Tumor necrosis factor receptor superfamily member EDAR - - - gene with protein product - - - - HGNC - 2895 - - - OMIM - 604095 - - - Reactome - Q9UNE0 - - - SwissProt - Q9UNE0 - - - IUPHAR - 2325 - - - Ensembl - ENSG00000135960 - - - Genatlas - EDAR - - - ClinVar - EDAR - - - - - 2q13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - EDAR associated via death domain - EDARADD - - crinkled - Ectodysplasin-A receptor-associated adapter protein - CR - - - gene with protein product - - - - Ensembl - ENSG00000186197 - - - Genatlas - EDARADD - - - HGNC - 14341 - - - OMIM - 606603 - - - Reactome - Q8WWZ3 - - - SwissProt - Q8WWZ3 - - - ClinVar - EDARADD - - - - - 1q42.3-q43 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - Wnt family member 10A - WNT10A - - - - gene with protein product - - - - ClinVar - WNT10A - - - HGNC - 13829 - - - OMIM - 606268 - - - Reactome - Q9GZT5 - - - SwissProt - Q9GZT5 - - - Ensembl - ENSG00000135925 - - - Genatlas - WNT10A - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30425301[PMID] - - cystatin B - CSTB - - CST6 - PME - stefin B - Epilepsy, progressive myoclonic 1 - - - gene with protein product - - - - ClinVar - CSTB - - - Reactome - P04080 - - - Ensembl - ENSG00000160213 - - - Genatlas - CSTB - - - HGNC - 2482 - - - OMIM - 601145 - - - SwissProt - P04080 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 1810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1810 - Autosomal dominant hypohidrotic ectodermal dysplasia - - Etiological subtype - - - Subtype of disorder - - - - - - ectodysplasin A receptor - EDAR - - ED1R - ED5 - EDA1R - EDA3 - Edar - ectodysplasin A1 receptor - Tumor necrosis factor receptor superfamily member EDAR - - - gene with protein product - - - - HGNC - 2895 - - - OMIM - 604095 - - - Reactome - Q9UNE0 - - - SwissProt - Q9UNE0 - - - IUPHAR - 2325 - - - Ensembl - ENSG00000135960 - - - Genatlas - EDAR - - - ClinVar - EDAR - - - - - 2q13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - EDAR associated via death domain - EDARADD - - crinkled - Ectodysplasin-A receptor-associated adapter protein - CR - - - gene with protein product - - - - Ensembl - ENSG00000186197 - - - Genatlas - EDARADD - - - HGNC - 14341 - - - OMIM - 606603 - - - Reactome - Q8WWZ3 - - - SwissProt - Q8WWZ3 - - - ClinVar - EDARADD - - - - - 1q42.3-q43 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - TNF receptor associated factor 6 - TRAF6 - - RNF85 - RING finger protein 85 - - - gene with protein product - - - - Ensembl - ENSG00000175104 - - - Genatlas - TRAF6 - - - HGNC - 12036 - - - OMIM - 602355 - - - Reactome - Q9Y4K3 - - - SwissProt - Q9Y4K3 - - - ClinVar - TRAF6 - - - - - 11p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27838789[PMID] - - keratinocyte differentiation factor 1 - KDF1 - - FLJ34633 - RP11-344H11.3 - - - gene with protein product - - - - Reactome - Q8NAX2 - - - HGNC - 26624 - - - Ensembl - ENSG00000175707 - - - OMIM - 616758 - - - SwissProt - Q8NAX2 - - - - - 1p36.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 3437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3437 - Vogt-Koyanagi-Harada disease - - Disease - - - Disorder - - - - 25382027[PMID] - - major histocompatibility complex, class II, DR beta 1 - HLA-DRB1 - - - - gene with protein product - - - - ClinVar - HLA-DRB1 - - - Ensembl - ENSG00000196126 - - - Genatlas - HLA-DRB1 - - - HGNC - 4948 - - - OMIM - 142857 - - - Reactome - P04229 - - - SwissProt - P01911 - - - - - 6p21.32 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 26136352[PMID] - - Fas cell surface death receptor - FAS - - APO-1 - CD95 - TNF receptor superfamily member 6 - - - gene with protein product - - - - ClinVar - FAS - - - IUPHAR - 1875 - - - Ensembl - ENSG00000026103 - - - Genatlas - FAS - - - HGNC - 11920 - - - OMIM - 134637 - - - Reactome - P25445 - - - SwissProt - P25445 - - - - - 10q23.31 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 24816862[PMID] - - protein tyrosine phosphatase non-receptor type 22 - PTPN22 - - Lyp - Lyp1 - Lyp2 - - - gene with protein product - - - - Ensembl - ENSG00000134242 - - - Genatlas - PTPN22 - - - HGNC - 9652 - - - OMIM - 600716 - - - SwissProt - Q9Y2R2 - - - IUPHAR - 3084 - - - Reactome - Q9Y2R2 - - - ClinVar - PTPN22 - - - - - 1p13.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 2032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2032 - Idiopathic pulmonary fibrosis - - Disease - - - Disorder - - - - 13680361[PMID] - - surfactant protein A1 - SFTPA1 - - COLEC4 - SP-A - SP-A1 - surfactant, pulmonary-associated protein A1A - - - gene with protein product - - - - ClinVar - SFTPA1 - - - Ensembl - ENSG00000122852 - - - Genatlas - SFTPA1 - - - HGNC - 10798 - - - OMIM - 178630 - - - Reactome - Q8IWL2 - - - SwissProt - Q8IWL2 - - - - - 10q22.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23583980[PMID] - - desmoplakin - DSP - - DPI - DPII - KPPS2 - PPKS2 - - - gene with protein product - - - - ClinVar - DSP - - - Ensembl - ENSG00000096696 - - - Genatlas - DSP - - - HGNC - 3052 - - - OMIM - 125647 - - - Reactome - P15924 - - - SwissProt - P15924 - - - - - 6p24.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 17460043[PMID] - - telomerase reverse transcriptase - TERT - - EST2 - TCS1 - TP2 - TRT - hEST2 - - - gene with protein product - - - - Ensembl - ENSG00000164362 - - - Genatlas - TERT - - - HGNC - 11730 - - - OMIM - 187270 - - - Reactome - O14746 - - - SwissProt - O14746 - - - ClinVar - TERT - - - - - 5p15.33 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 17392301[PMID]_18753630[PMID] - - telomerase RNA component - TERC - - TER - SCARNA19 - TR - TRC3 - hTR - small Cajal body-specific RNA 19 - - - Non-coding RNA - - - - SwissProt - - - - Ensembl - ENSG00000270141 - - - Genatlas - TERC - - - ClinVar - TERC - - - HGNC - 11727 - - - OMIM - 602322 - - - - - 3q26.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 21506741[PMID]_21506748[PMID] - - mucin 5B, oligomeric mucus/gel-forming - MUC5B - - MG1 - mucin MG1 - MUC-5B - - - gene with protein product - - - - Ensembl - ENSG00000117983 - - - Genatlas - MUC5B - - - HGNC - 7516 - - - OMIM - 600770 - - - Reactome - Q9HC84 - - - SwissProt - Q9HC84 - - - ClinVar - MUC5B - - - - - 11p15.5 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 19100526[PMID] - - surfactant protein A2 - SFTPA2 - - COLEC5 - SP-A2 - surfactant, pulmonary-associated protein A2A - - - gene with protein product - - - - ClinVar - SFTPA2 - - - Ensembl - ENSG00000185303 - - - Genatlas - SFTPA2 - - - HGNC - 10799 - - - OMIM - 178642 - - - Reactome - Q8IWL1 - - - SwissProt - Q8IWL1 - - - - - 10q22.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 25848748[PMID] - - regulator of telomere elongation helicase 1 - RTEL1 - - DKFZP434C013 - KIAA1088 - NHL - RTEL - bK3184A7.3 - - - gene with protein product - - - - ClinVar - RTEL1 - - - Ensembl - ENSG00000258366 - - - Genatlas - RTEL1 - - - HGNC - 15888 - - - OMIM - 608833 - - - Reactome - Q9NZ71 - - - SwissProt - Q9NZ71 - - - - - 20q13.33 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23583980[PMID] - - family with sequence similarity 13 member A - FAM13A - - ARHGAP48 - KIAA0914 - - - gene with protein product - - - - ClinVar - FAM13A - - - Ensembl - ENSG00000138640 - - - Genatlas - FAM13A - - - HGNC - 19367 - - - OMIM - 613299 - - - Reactome - O94988 - - - SwissProt - O94988 - - - - - 4q22.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23583980[PMID] - - STN1 subunit of CST complex - STN1 - - FLJ22559 - bA541N10.2 - - - gene with protein product - - - - Reactome - Q9H668 - - - ClinVar - OBFC1 - - - Ensembl - ENSG00000107960 - - - Genatlas - OBFC1 - - - HGNC - 26200 - - - OMIM - 613128 - - - SwissProt - Q9H668 - - - - - 10q24.33 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23583980[PMID] - - ATPase phospholipid transporting 11A - ATP11A - - ATPIH - ATPIS - KIAA1021 - Phospholipid-translocating ATPase - Potential phospholipid-transporting ATPase IH - phospholipid-translocating ATPase - potential phospholipid-transporting ATPase IH - - - gene with protein product - - - - IUPHAR - 865 - - - ClinVar - ATP11A - - - Ensembl - ENSG00000068650 - - - Genatlas - ATP11A - - - HGNC - 13552 - - - OMIM - 605868 - - - Reactome - P98196 - - - SwissProt - P98196 - - - - - 13q34 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23583980[PMID] - - dipeptidyl peptidase 9 - DPP9 - - - - gene with protein product - - - - ClinVar - DPP9 - - - Ensembl - ENSG00000142002 - - - Genatlas - DPP9 - - - HGNC - 18648 - - - IUPHAR - 2357 - - - OMIM - 608258 - - - SwissProt - Q86TI2 - - - - - 19p13.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 25848748[PMID] - - poly(A)-specific ribonuclease - PARN - - DAN - deadenylation nuclease - - - gene with protein product - - - - Ensembl - ENSG00000140694 - - - Genatlas - PARN - - - HGNC - 8609 - - - OMIM - 604212 - - - Reactome - O95453 - - - SwissProt - O95453 - - - ClinVar - PARN - - - - - 16p13.12 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 15516475[PMID] - - surfactant protein C - SFTPC - - BRICD6 - BRICHOS domain containing 6 - PSP-C - SMDP2 - SP-C - - - gene with protein product - - - - ClinVar - SFTPC - - - Ensembl - ENSG00000168484 - - - Genatlas - SFTPC - - - HGNC - 10802 - - - OMIM - 178620 - - - Reactome - P11686 - - - SwissProt - P11686 - - - - - 8p21.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 25553246[PMID] - - ATP binding cassette subfamily A member 3 - ABCA3 - - ABC-C - EST111653 - LBM180 - - - gene with protein product - - - - ClinVar - ABCA3 - - - IUPHAR - 758 - - - Ensembl - ENSG00000167972 - - - Genatlas - ABCA3 - - - HGNC - 33 - - - OMIM - 601615 - - - Reactome - Q99758 - - - SwissProt - Q99758 - - - - - 16p13.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=198 - Occipital horn syndrome - - Disease - - - Disorder - - - - 20301586[PMID] - - ATPase copper transporting alpha - ATP7A - - copper pump 1 - copper-transporting ATPase 1 - - - gene with protein product - - - - IUPHAR - 852 - - - Ensembl - ENSG00000165240 - - - Genatlas - ATP7A - - - HGNC - 869 - - - OMIM - 300011 - - - Reactome - Q04656 - - - SwissProt - Q04656 - - - ClinVar - ATP7A - - - - - Xq21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=891 - Familial exudative vitreoretinopathy - - Disease - - - Disorder - - - - 28575650[PMID] - - catenin beta 1 - CTNNB1 - - armadillo - beta-catenin - - - gene with protein product - - - - ClinVar - CTNNB1 - - - Ensembl - ENSG00000168036 - - - Genatlas - CTNNB1 - - - HGNC - 2514 - - - OMIM - 116806 - - - Reactome - P35222 - - - SwissProt - P35222 - - - - - 3p22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301326[PMID] - - frizzled class receptor 4 - FZD4 - - CD344 - - - gene with protein product - - - - ClinVar - FZD4 - - - Ensembl - ENSG00000174804 - - - Genatlas - FZD4 - - - HGNC - 4042 - - - IUPHAR - 232 - - - OMIM - 604579 - - - Reactome - Q9ULV1 - - - SwissProt - Q9ULV1 - - - - - 11q14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301326[PMID] - - LDL receptor related protein 5 - LRP5 - - BMND1 - EVR4 - HBM - LR3 - OPS - OPTA1 - VBCH2 - - - gene with protein product - - - - ClinVar - LRP5 - - - Ensembl - ENSG00000162337 - - - Genatlas - LRP5 - - - HGNC - 6697 - - - OMIM - 603506 - - - Reactome - O75197 - - - SwissProt - O75197 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301506[PMID] - - norrin cystine knot growth factor NDP - NDP - - norrin - - - gene with protein product - - - - Reactome - Q00604 - - - ClinVar - NDP - - - Ensembl - ENSG00000124479 - - - Genatlas - NDP - - - HGNC - 7678 - - - OMIM - 300658 - - - SwissProt - Q00604 - - - - - Xp11.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301326[PMID] - - tetraspanin 12 - TSPAN12 - - NET-2 - - - gene with protein product - - - - ClinVar - TSPAN12 - - - Ensembl - ENSG00000106025 - - - Genatlas - TSPAN12 - - - HGNC - 21641 - - - OMIM - 613138 - - - SwissProt - O95859 - - - - - 7q31.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23716659[PMID] - - zinc finger protein 408 - ZNF408 - - FLJ12827 - PRDM17 - PR/SET domain 17 - - - gene with protein product - - - - Ensembl - ENSG00000175213 - - - Genatlas - ZNF408 - - - HGNC - 20041 - - - OMIM - 616454 - - - SwissProt - Q9H9D4 - - - Reactome - Q9H9D4 - - - ClinVar - ZNF408 - - - - - 11p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 466688 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466688 - Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome - - Malformation syndrome - - - Disorder - - - - 25388005[PMID] - - FERM domain containing 4A - FRMD4A - - bA295P9.4 - FLJ10210 - KIAA1294 - - - gene with protein product - - - - HGNC - 25491 - - - OMIM - 616305 - - - Genatlas - FRMD4A - - - SwissProt - Q9P2Q2 - - - Ensembl - ENSG00000151474 - - - ClinVar - FRMD4A - - - - - 10p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 466650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466650 - Exercise-induced malignant hyperthermia - - Disease - - - Disorder - - - - 23628358[PMID] - - ryanodine receptor 1 - RYR1 - - PPP1R137 - RYR - protein phosphatase 1, regulatory subunit 137 - - - gene with protein product - - - - ClinVar - RYR1 - - - Ensembl - ENSG00000196218 - - - Genatlas - RYR1 - - - HGNC - 10483 - - - IUPHAR - 747 - - - OMIM - 180901 - - - Reactome - P21817 - - - SwissProt - P21817 - - - - - 19q13.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 466962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466962 - SMARCA4-deficient sarcoma of thorax - - Disease - - - Disorder - - - - 26343384[PMID] - - SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 - SMARCA4 - - ATP-dependent helicase SMARCA4 - BAF190 - BRG1 - BRM/SWI2-related gene 1 - FLJ39786 - SNF2 - SNF2-BETA - SNF2-like 4 - SNF2LB - SWI2 - brahma protein-like 1 - global transcription activator homologous sequence - hSNF2b - homeotic gene regulator - mitotic growth and transcription activator - nuclear protein GRB1 - sucrose nonfermenting-like 4 - - - gene with protein product - - - - Ensembl - ENSG00000127616 - - - Genatlas - SMARCA4 - - - HGNC - 11100 - - - IUPHAR - 2740 - - - OMIM - 603254 - - - Reactome - P51532 - - - SwissProt - P51532 - - - ClinVar - SMARCA4 - - - - - 19p13.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 466950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466950 - Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation - - Clinical subtype - - - Subtype of disorder - - - - 26264232[PMID] - - WW domain containing adaptor with coiled-coil - WAC - - MGC10753 - Wwp4 - FLJ31290 - BM-016 - PRO1741 - - - gene with protein product - - - - Ensembl - ENSG00000095787 - - - Reactome - Q9BTA9 - - - HGNC - 17327 - - - SwissProt - Q9BTA9 - - - ClinVar - WAC - - - OMIM - 615049 - - - Genatlas - WAC - - - - - 10p12.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 466926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466926 - Seizures-scoliosis-macrocephaly syndrome - - Disease - - - Disorder - - - - 26246518[PMID] - - exostosin glycosyltransferase 2 - EXT2 - - Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase - N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase - SOTV - - - gene with protein product - - - - ClinVar - EXT2 - - - Ensembl - ENSG00000151348 - - - Genatlas - EXT2 - - - HGNC - 3513 - - - OMIM - 608210 - - - Reactome - Q93063 - - - SwissProt - Q93063 - - - - - 11p11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 466934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466934 - VPS11-related autosomal recessive hypomyelinating leukodystrophy - - Disease - - - Disorder - - - - 26307567[PMID] - - VPS11 core subunit of CORVET and HOPS complexes - VPS11 - - PEP5 - RNF108 - - - gene with protein product - - - - HGNC - 14583 - - - OMIM - 608549 - - - Genatlas - VPS11 - - - SwissProt - Q9H270 - - - Ensembl - ENSG00000160695 - - - ClinVar - VPS11 - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 466921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466921 - Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome - - Disease - - - Disorder - - - - 26581302[PMID] - - titin - TTN - - CMH9 - CMPD4 - FLJ32040 - LGMD2J - MYLK5 - TMD - - - gene with protein product - - - - Reactome - Q8WZ42 - - - SwissProt - Q8WZ42 - - - ClinVar - TTN - - - Ensembl - ENSG00000155657 - - - Genatlas - TTN - - - HGNC - 12403 - - - IUPHAR - 2265 - - - OMIM - 188840 - - - - - 2q31.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 466806 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466806 - Autosomal dominant thrombocytopenia with platelet secretion defect - - Disease - - - Disorder - - - - 26280575[PMID] - - schlafen family member 14 - SLFN14 - - - - gene with protein product - - - - OMIM - 614958 - - - SwissProt - P0C7P3 - - - Ensembl - ENSG00000236320 - - - HGNC - 32689 - - - ClinVar - SLFN14 - - - Genatlas - SLFN14 - - - - - 17q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 466794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466794 - Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome - - Disease - - - Disorder - - - - 26581903[PMID] - - SCY1 like pseudokinase 1 - SCYL1 - - TRAP - P105 - NKTL - TEIF - TAPK - GKLP - HT019 - MGC78454 - telomerase transcriptional elements-interacting factor - teratoma-associated tyrosine kinase - telomerase regulation-associated protein - - - gene with protein product - - - - OMIM - 607982 - - - Ensembl - ENSG00000142186 - - - IUPHAR - 2195 - - - ClinVar - SCYL1 - - - HGNC - 14372 - - - Genatlas - SCYL1 - - - SwissProt - Q96KG9 - - - - - 11q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 466791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466791 - Macrocephaly-intellectual disability-left ventricular non compaction syndrome - - Malformation syndrome - - - Disorder - - - - 26571461[PMID] - - non-POU domain containing octamer binding - NONO - - NMT55 - NRB54 - Nuclear RNA-binding protein, 54-kD - P54 - P54NRB - PPP1R114 - non-Pou domain-containing octamer (ATGCAAAT) binding protein - protein phosphatase 1, regulatory subunit 114 - - - gene with protein product - - - - Reactome - Q15233 - - - Ensembl - ENSG00000147140 - - - Genatlas - NONO - - - HGNC - 7871 - - - OMIM - 300084 - - - SwissProt - Q15233 - - - ClinVar - NONO - - - - - Xq13.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 466784 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466784 - Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect - - Disease - - - Disorder - - - - 26522469[PMID] - - solute carrier family 25 member 26 - SLC25A26 - - S-adenosylmethionine mitochondrial carrier protein - SAMC - - - gene with protein product - - - - HGNC - 20661 - - - OMIM - 611037 - - - Genatlas - SLC25A26 - - - SwissProt - Q70HW3 - - - Reactome - Q70HW3 - - - Ensembl - ENSG00000144741 - - - IUPHAR - 1074 - - - ClinVar - SLC25A26 - - - - - 3p14.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 466775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466775 - Autosomal recessive Charcot-Marie-Tooth disease type 2X - - Disease - - - Disorder - - - - 26556829[PMID] - - SPG11 vesicle trafficking associated, spatacsin - SPG11 - - FLJ21439 - spatacsin - - - gene with protein product - - - - ClinVar - SPG11 - - - Ensembl - ENSG00000104133 - - - Genatlas - SPG11 - - - HGNC - 11226 - - - OMIM - 610844 - - - SwissProt - Q96JI7 - - - - - 15q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 466768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466768 - Autosomal dominant Charcot-Marie-Tooth disease type 2Z - - Disease - - - Disorder - - - - 26497905[PMID] - - MORC family CW-type zinc finger 2 - MORC2 - - ZCW3 - KIAA0852 - AC004542.C22.1 - - - gene with protein product - - - - Reactome - Q9Y6X9 - - - OMIM - 616661 - - - HGNC - 23573 - - - Genatlas - MORC2 - - - ClinVar - MORC2 - - - Ensembl - ENSG00000133422 - - - SwissProt - Q9Y6X9 - - - - - 22q12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 466729 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466729 - Familial patent arterial duct - - Morphological anomaly - - - Disorder - - - - 21643846[PMID] - - transcription factor AP-2 beta - TFAP2B - - AP2-B - AP-2beta - - - gene with protein product - - - - Ensembl - ENSG00000008196 - - - Genatlas - TFAP2B - - - HGNC - 11743 - - - ClinVar - TFAP2B - - - OMIM - 601601 - - - SwissProt - Q92481 - - - Reactome - Q92481 - - - - - 6p12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27181681[PMID] - - PR/SET domain 6 - PRDM6 - - KMT8C - PRISM - - - gene with protein product - - - - HGNC - 9350 - - - OMIM - 616982 - - - Genatlas - PRDM6 - - - SwissProt - Q9NQX0 - - - Ensembl - ENSG00000061455 - - - ClinVar - PRDM6 - - - - - 5q23.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 466722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466722 - Autosomal recessive spastic paraplegia type 77 - - Disease - - - Disorder - - - - 26553276[PMID] - - phenylalanyl-tRNA synthetase 2, mitochondrial - FARS2 - - mtPheRS - phenylalanine tRNA ligase 2, mitochondrial - Phenylalanine tRNA ligase 2, mitochondrial - dJ236A3.1 - - - gene with protein product - - - - Ensembl - ENSG00000145982 - - - Genatlas - FARS2 - - - HGNC - 21062 - - - OMIM - 611592 - - - Reactome - O95363 - - - SwissProt - O95363 - - - ClinVar - FARS2 - - - - - 6p25.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 466718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466718 - Martinique crinkled retinal pigment epitheliopathy - - Disease - - - Disorder - - - - 26744326[PMID] - - MAPK activated protein kinase 3 - MAPKAPK3 - - 3PK - MAPKAP3 - 3pK - MK3 - MK-3 - - - gene with protein product - - - - OMIM - 602130 - - - Genatlas - MAPKAPK3 - - - SwissProt - Q16644 - - - Reactome - Q16644 - - - Ensembl - ENSG00000114738 - - - ClinVar - MAPKAPK3 - - - HGNC - 6888 - - - IUPHAR - 2095 - - - - - 3p21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 466703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466703 - TMEM199-CDG - - Disease - - - Disorder - - - - 26833330[PMID] - - vacuolar ATPase assembly factor VMA12 - VMA12 - - VPH2 - MGC45714 - - - gene with protein product - - - - Reactome - Q8N511 - - - Ensembl - ENSG00000244045 - - - ClinVar - TMEM199 - - - Genatlas - TMEM199 - - - SwissProt - Q8N511 - - - OMIM - 616815 - - - HGNC - 18085 - - - - - 17q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 465824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465824 - Fetal encasement syndrome - - Malformation syndrome - - - Disorder - - - - 20961246[PMID] - - component of inhibitor of nuclear factor kappa B kinase complex - CHUK - - IkBKA - IKK-alpha - IKK1 - IKKA - NFKBIKA - I-kappa-B kinase - inhibitor of nuclear factor kappa-B kinase subunit alpha - - - gene with protein product - - - - HGNC - 1974 - - - OMIM - 600664 - - - Genatlas - CHUK - - - SwissProt - O15111 - - - Reactome - O15111 - - - Ensembl - ENSG00000213341 - - - IUPHAR - 1989 - - - ClinVar - CHUK - - - - - 10q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 466026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466026 - Class I glucose-6-phosphate dehydrogenase deficiency - - Disease - - - Disorder - - - - 7577654[PMID] - - glucose-6-phosphate dehydrogenase - G6PD - - G6PD1 - - - gene with protein product - - - - ClinVar - G6PD - - - Ensembl - ENSG00000160211 - - - Genatlas - G6PD - - - HGNC - 4057 - - - OMIM - 305900 - - - Reactome - P11413 - - - SwissProt - P11413 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 468620 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468620 - Intellectual disability-epilepsy-extrapyramidal syndrome - - Disease - - - Disorder - - - - 26048982[PMID] - - DEAF1 transcription factor - DEAF1 - - NUDR - SPN - ZMYND5 - - - gene with protein product - - - - ClinVar - DEAF1 - - - Ensembl - ENSG00000177030 - - - Genatlas - DEAF1 - - - HGNC - 14677 - - - OMIM - 602635 - - - SwissProt - O75398 - - - Reactome - O75398 - - - - - 11p15.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 468631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468631 - Microcephalic cortical malformations-short stature due to RTTN deficiency - - Malformation syndrome - - - Disorder - - - - 26608784[PMID] - - rotatin - RTTN - - DKFZP434G145 - - - gene with protein product - - - - ClinVar - RTTN - - - Ensembl - ENSG00000176225 - - - Genatlas - RTTN - - - HGNC - 18654 - - - OMIM - 610436 - - - SwissProt - Q86VV8 - - - - - 18q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 467166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467166 - Tubulinopathy-associated dysgyria - - Disease - - - Disorder - - - - 26130693[PMID] - - tubulin alpha 1a - TUBA1A - - B-ALPHA-1 - FLJ25113 - TUBA3 - Tubulin, alpha, brain-specific - tubulin, alpha, brain-specific - - - gene with protein product - - - - ClinVar - TUBA1A - - - Ensembl - ENSG00000167552 - - - Genatlas - TUBA1A - - - HGNC - 20766 - - - IUPHAR - 2638 - - - OMIM - 602529 - - - Reactome - Q71U36 - - - SwissProt - Q71U36 - - - - - 12q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26130693[PMID] - - tubulin beta 2B class IIb - TUBB2B - - DKFZp566F223 - MGC8685 - bA506K6.1 - class IIb beta-tubulin - - - gene with protein product - - - - Ensembl - ENSG00000137285 - - - Genatlas - TUBB2B - - - HGNC - 30829 - - - OMIM - 612850 - - - Reactome - Q9BVA1 - - - SwissProt - Q9BVA1 - - - ClinVar - TUBB2B - - - - - 6p25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26130693[PMID] - - tubulin beta 3 class III - TUBB3 - - CFEOM3 - CFEOM3A - beta-4 - class III beta-tubulin - - - gene with protein product - - - - Ensembl - ENSG00000258947 - - - Genatlas - TUBB3 - - - HGNC - 20772 - - - IUPHAR - 2752 - - - OMIM - 602661 - - - Reactome - Q13509 - - - SwissProt - Q13509 - - - ClinVar - TUBB3 - - - - - 16q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 467176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467176 - Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome - - Disease - - - Disorder - - - - 26358778[PMID] - - coiled-coil domain containing 174 - CCDC174 - - ctr1 - FLJ33839 - - - gene with protein product - - - - HGNC - 28033 - - - Reactome - Q6PII3 - - - OMIM - 616735 - - - SwissProt - Q6PII3 - - - ClinVar - C3orf19 - - - Ensembl - ENSG00000154781 - - - Genatlas - C3orf19 - - - - - 3p25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 468635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468635 - Cryptogenic multifocal ulcerous stenosing enteritis - - Disease - - - Disorder - - - - 23268370[PMID] - - phospholipase A2 group IVA - PLA2G4A - - cPLA2-alpha - - - gene with protein product - - - - ClinVar - PLA2G4A - - - Reactome - P47712 - - - Ensembl - ENSG00000116711 - - - IUPHAR - 1424 - - - HGNC - 9035 - - - OMIM - 600522 - - - Genatlas - PLA2G4A - - - SwissProt - P47712 - - - - - 1q31.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 468641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468641 - Chronic enteropathy associated with SLCO2A1 gene - - Disease - - - Disorder - - - - 26539716[PMID] - - solute carrier organic anion transporter family member 2A1 - SLCO2A1 - - prostaglandin transporter - OATP2A1 - PGT - - - gene with protein product - - - - IUPHAR - 1223 - - - Ensembl - ENSG00000174640 - - - Genatlas - SLCO2A1 - - - HGNC - 10955 - - - OMIM - 601460 - - - Reactome - Q92959 - - - SwissProt - Q92959 - - - ClinVar - SLCO2A1 - - - - - 3q22.1-q22.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 468661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468661 - Autosomal recessive spastic paraplegia type 74 - - Disease - - - Disorder - - - - 25609768[PMID] - - iron-sulfur cluster assembly factor IBA57 - IBA57 - - FLJ12734 - iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa - - - gene with protein product - - - - Ensembl - ENSG00000181873 - - - Genatlas - IBA57 - - - HGNC - 27302 - - - OMIM - 615316 - - - SwissProt - Q5T440 - - - ClinVar - IBA57 - - - - - 1q42.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 468666 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468666 - Isolated generalized anhidrosis with normal sweat glands - - Disease - - - Disorder - - - - 25329695[PMID] - - inositol 1,4,5-trisphosphate receptor type 2 - ITPR2 - - CFAP48 - cilia and flagella associated protein 48 - IP3R2 - - - gene with protein product - - - - HGNC - 6181 - - - OMIM - 600144 - - - Genatlas - ITPR2 - - - SwissProt - Q14571 - - - Reactome - Q14571 - - - Ensembl - ENSG00000123104 - - - IUPHAR - 744 - - - ClinVar - ITPR2 - - - - - 12p11.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 468678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468678 - White-Sutton syndrome - - Disease - - - Disorder - - - - 26739615[PMID] - - pogo transposable element derived with ZNF domain - POGZ - - ZNF635m - KIAA0461 - ZNF280E - putative protein product of Nbla00003 - zinc finger protein 280E - ZNF635 - - - gene with protein product - - - - Reactome - Q7Z3K3 - - - SwissProt - Q7Z3K3 - - - OMIM - 614787 - - - ClinVar - POGZ - - - HGNC - 18801 - - - Ensembl - ENSG00000143442 - - - Genatlas - POGZ - - - - - 1q21.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 468684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468684 - CCDC115-CDG - - Disease - - - Disorder - - - - 26833332[PMID] - - vacuolar ATPase assembly factor VMA22 - VMA22 - - ccp1 - FLJ30131 - MGC12981 - - - gene with protein product - - - - HGNC - 28178 - - - Genatlas - CCDC115 - - - OMIM - 613734 - - - ClinVar - CCDC115 - - - SwissProt - Q96NT0 - - - Ensembl - ENSG00000136710 - - - - - 2q21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 468672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468672 - Colobomatous macrophthalmia-microcornea syndrome - - Disease - - - Disorder - - - - 25561690[PMID] - - cysteine rich transmembrane BMP regulator 1 - CRIM1 - - - - gene with protein product - - - - Genatlas - CRIM1 - - - SwissProt - Q9NZV1 - - - Ensembl - ENSG00000150938 - - - HGNC - 2359 - - - ClinVar - CRIM1 - - - OMIM - 606189 - - - - - 2p22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 468726 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468726 - Severe primary trimethylaminuria - - Disease - - - Disorder - - - - 20301282[PMID]_19321370[PMID] - - flavin containing dimethylaniline monoxygenase 3 - FMO3 - - FMOII - Dimethylaniline monooxygenase [N-oxide-forming] 3 - - - gene with protein product - - - - Ensembl - ENSG00000007933 - - - Genatlas - FMO3 - - - HGNC - 3771 - - - OMIM - 136132 - - - Reactome - P31513 - - - SwissProt - P31513 - - - ClinVar - FMO3 - - - - - 1q24.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 468699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468699 - SLC39A8-CDG - - Disease - - - Disorder - - - - 26637978[PMID]_26637979[PMID] - - solute carrier family 39 member 8 - SLC39A8 - - BIGM103 - Metal cation symporter ZIP8 - ZIP8 - BCG-induced integral membrane protein in monocyte clone 103 - ZRT/IRT-like protein 8 - Zinc transporter ZIP8 - ZIP-8 - - - gene with protein product - - - - HGNC - 20862 - - - OMIM - 608732 - - - Genatlas - SLC39A8 - - - SwissProt - Q9C0K1 - - - ClinVar - SLC39A8 - - - Reactome - Q9C0K1 - - - Ensembl - ENSG00000138821 - - - IUPHAR - 1187 - - - - - 4q24 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 468717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468717 - Rhizomelic chondrodysplasia punctata type 5 - - Etiological subtype - - - Subtype of disorder - - - - 26220973[PMID] - - peroxisomal biogenesis factor 5 - PEX5 - - peroxisomal import receptor 5 - peroxisomal targeting signal 1 receptor - PTS1R - - - gene with protein product - - - - Reactome - P50542 - - - Ensembl - ENSG00000139197 - - - Genatlas - PEX5 - - - HGNC - 9719 - - - OMIM - 600414 - - - SwissProt - P50542 - - - ClinVar - PEX5 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 401785 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401785 - Autosomal recessive spastic paraplegia type 62 - - Disease - - - Disorder - - - - 24482476[PMID] - - ER lipid raft associated 1 - ERLIN1 - - Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9 - Erlin-1 - KE04 - SPG62 - - - gene with protein product - - - - Reactome - O75477 - - - OMIM - 611604 - - - SwissProt - O75477 - - - Ensembl - ENSG00000107566 - - - Genatlas - ERLIN1 - - - HGNC - 16947 - - - ClinVar - ERLIN1 - - - - - 10q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 401780 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401780 - Autosomal recessive spastic paraplegia type 61 - - Disease - - - Disorder - - - - 24482476[PMID] - - ARL6 interacting reticulophagy regulator 1 - ARL6IP1 - - AIP1 - ARMER - KIAA0069 - SPG61 - - - gene with protein product - - - - Ensembl - ENSG00000170540 - - - Genatlas - ARL6IP1 - - - HGNC - 697 - - - OMIM - 607669 - - - SwissProt - Q15041 - - - ClinVar - ARL6IP1 - - - Reactome - Q15041 - - - - - 16p12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 401800 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401800 - Autosomal recessive spastic paraplegia type 60 - - Disease - - - Disorder - - - - 24482476[PMID] - - WD repeat domain 48 - WDR48 - - KIAA1449 - P80 - SPG60 - Bun62 - - - gene with protein product - - - - Reactome - Q8TAF3 - - - Ensembl - ENSG00000114742 - - - Genatlas - WDR48 - - - HGNC - 30914 - - - OMIM - 612167 - - - SwissProt - Q8TAF3 - - - ClinVar - WDR48 - - - - - 3p22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 401795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401795 - Autosomal recessive spastic paraplegia type 59 - - Disease - - - Disorder - - - - 24482476[PMID] - - ubiquitin specific peptidase 8 - USP8 - - HumORF8 - KIAA0055 - SPG59 - UBPY - Ubiquitin carboxyl-terminal hydrolase 8 - Ubiquitin isopeptidase Y - - - gene with protein product - - - - Ensembl - ENSG00000138592 - - - Genatlas - USP8 - - - HGNC - 12631 - - - OMIM - 603158 - - - Reactome - P40818 - - - SwissProt - P40818 - - - IUPHAR - 3209 - - - ClinVar - USP8 - - - - - 15q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 401768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401768 - Proximal myopathy with extrapyramidal signs - - Disease - - - Disorder - - - - 24336167[PMID] - - mitochondrial calcium uptake 1 - MICU1 - - CALC - EFHA3 - FLJ12684 - - - gene with protein product - - - - Reactome - Q9BPX6 - - - Ensembl - ENSG00000107745 - - - Genatlas - MICU1 - - - HGNC - 1530 - - - OMIM - 605084 - - - SwissProt - Q9BPX6 - - - ClinVar - MICU1 - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 401764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401764 - Pancytopenia-developmental delay syndrome - - Disease - - - Disorder - - - - 24507776[PMID] - - ERCC excision repair 6 like 2 - ERCC6L2 - - FLJ37706 - RAD26L - HEBO - - - gene with protein product - - - - Ensembl - ENSG00000182150 - - - Genatlas - ERCC6L2 - - - HGNC - 26922 - - - OMIM - 615667 - - - SwissProt - Q5T890 - - - ClinVar - ERCC6L2 - - - - - 9q22.32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 401777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401777 - Optic atrophy-intellectual disability syndrome - - Disease - - - Disorder - - - - 24462372[PMID] - - nuclear receptor subfamily 2 group F member 1 - NR2F1 - - COUPTF1 - COUP-TFI - EAR-3 - SVP44 - TCFCOUP1 - - - gene with protein product - - - - Ensembl - ENSG00000175745 - - - Genatlas - NR2F1 - - - HGNC - 7975 - - - IUPHAR - 617 - - - OMIM - 132890 - - - Reactome - P10589 - - - SwissProt - P10589 - - - ClinVar - NR2F1 - - - - - 5q15 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 401830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401830 - Autosomal recessive spastic paraplegia type 69 - - Disease - - - Disorder - - - - 24482476[PMID] - - RAB3 GTPase activating non-catalytic protein subunit 2 - RAB3GAP2 - - DKFZP434D245 - KIAA0839 - RAB3-GAP150 - SPG69 - - - gene with protein product - - - - Reactome - Q9H2M9 - - - ClinVar - RAB3GAP2 - - - Ensembl - ENSG00000118873 - - - Genatlas - RAB3GAP2 - - - HGNC - 17168 - - - OMIM - 609275 - - - SwissProt - Q9H2M9 - - - - - 1q41 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 401835 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401835 - Autosomal recessive spastic paraplegia type 70 - - Disease - - - Disorder - - - - 24482476[PMID] - - methionyl-tRNA synthetase 1 - MARS1 - - CMT2U - MetRS - SPG70 - methionine tRNA ligase 1, cytoplasmic - Methionine--tRNA ligase, cytoplasmic - - - gene with protein product - - - - ClinVar - MARS - - - HGNC - 6898 - - - OMIM - 156560 - - - Reactome - P56192 - - - SwissProt - P56192 - - - Ensembl - ENSG00000166986 - - - Genatlas - MARS - - - - - 12q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 401840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401840 - Autosomal recessive spastic paraplegia type 71 - - Disease - - - Disorder - - - - 24482476[PMID] - - zinc finger RNA binding protein - ZFR - - SPG71 - ZFR1 - - - gene with protein product - - - - Ensembl - ENSG00000056097 - - - Genatlas - ZFR - - - HGNC - 17277 - - - OMIM - 615635 - - - SwissProt - Q96KR1 - - - ClinVar - ZFR - - - - - 5p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 401805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401805 - Autosomal recessive spastic paraplegia type 63 - - Disease - - - Disorder - - - - 24482476[PMID] - - adenosine monophosphate deaminase 2 - AMPD2 - - AMPD isoform L - SPG63 - - - gene with protein product - - - - Ensembl - ENSG00000116337 - - - Genatlas - AMPD2 - - - HGNC - 469 - - - OMIM - 102771 - - - Reactome - Q01433 - - - SwissProt - Q01433 - - - ClinVar - AMPD2 - - - - - 1p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 401810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401810 - Autosomal recessive spastic paraplegia type 64 - - Disease - - - Disorder - - - - 24482476[PMID] - - ectonucleoside triphosphate diphosphohydrolase 1 - ENTPD1 - - ATPDase - NTPDase-1 - SPG64 - - - gene with protein product - - - - Reactome - P49961 - - - Ensembl - ENSG00000138185 - - - Genatlas - ENTPD1 - - - HGNC - 3363 - - - OMIM - 601752 - - - SwissProt - P49961 - - - IUPHAR - 2888 - - - ClinVar - ENTPD1 - - - - - 10q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 401815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401815 - Autosomal recessive spastic paraplegia type 66 - - Disease - - - Disorder - - - - 24482476[PMID] - - arylsulfatase family member I - ARSI - - FLJ16069 - SPG66 - - - gene with protein product - - - - HGNC - 32521 - - - OMIM - 610009 - - - Reactome - Q5FYB1 - - - SwissProt - Q5FYB1 - - - Ensembl - ENSG00000183876 - - - Genatlas - ARSI - - - ClinVar - ARSI - - - - - 5q32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 401820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401820 - Autosomal recessive spastic paraplegia type 67 - - Disease - - - Disorder - - - - 24482476[PMID] - - post-GPI attachment to proteins inositol deacylase 1 - PGAP1 - - Bst1 - FLJ12377 - GPI inositol-deacylase - SPG67 - - - gene with protein product - - - - Ensembl - ENSG00000197121 - - - Genatlas - PGAP1 - - - HGNC - 25712 - - - OMIM - 611655 - - - Reactome - Q75T13 - - - SwissProt - Q75T13 - - - ClinVar - PGAP1 - - - - - 2q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 401866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401866 - Childhood-onset spasticity with hyperglycinemia - - Disease - - - Disorder - - - - 24334290[PMID]_24777537[PMID] - - glutaredoxin 5 - GLRX5 - - GRX5 - PR01238 - - - gene with protein product - - - - Reactome - Q86SX6 - - - Ensembl - ENSG00000182512 - - - Genatlas - GLRX5 - - - HGNC - 20134 - - - OMIM - 609588 - - - SwissProt - Q86SX6 - - - ClinVar - GLRX5 - - - - - 14q32.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 401869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401869 - Multiple mitochondrial dysfunctions syndrome type 1 - - Disease - - - Disorder - - - - 24334290[PMID]_24777537[PMID] - - NFU1 iron-sulfur cluster scaffold - NFU1 - - CGI-33 - NIFUC - NifU - - - gene with protein product - - - - Ensembl - ENSG00000169599 - - - Genatlas - NFU1 - - - HGNC - 16287 - - - OMIM - 608100 - - - SwissProt - Q9UMS0 - - - ClinVar - NFU1 - - - - - 2p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 401874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401874 - Multiple mitochondrial dysfunctions syndrome type 2 - - Disease - - - Disorder - - - - 24334290[PMID]_24777537[PMID] - - bolA family member 3 - BOLA3 - - - - gene with protein product - - - - Reactome - Q53S33 - - - Ensembl - ENSG00000163170 - - - Genatlas - BOLA3 - - - HGNC - 24415 - - - OMIM - 613183 - - - SwissProt - Q53S33 - - - ClinVar - BOLA3 - - - - - 2p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 401849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401849 - Autosomal spastic paraplegia type 72 - - Disease - - - Disorder - - - - 24388663[PMID] - - receptor accessory protein 2 - REEP2 - - SGC32445 - SPG72 - Yip2d - - - gene with protein product - - - - Ensembl - ENSG00000132563 - - - Genatlas - REEP2 - - - HGNC - 17975 - - - OMIM - 609347 - - - SwissProt - Q9BRK0 - - - Reactome - Q9BRK0 - - - ClinVar - REEP2 - - - - - 5q31.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 401859 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401859 - Lipoic acid synthetase deficiency - - Disease - - - Disorder - - - - 24334290[PMID]_24777537[PMID] - - lipoic acid synthetase - LIAS - - LAS - Lipoyl synthase, mitochondrial - - - gene with protein product - - - - Ensembl - ENSG00000121897 - - - Genatlas - LIAS - - - HGNC - 16429 - - - OMIM - 607031 - - - Reactome - O43766 - - - SwissProt - O43766 - - - ClinVar - LIAS - - - - - 4p14 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 401862 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401862 - Lipoyl transferase 1 deficiency - - Disease - - - Disorder - - - - 24777537[PMID] - - lipoyltransferase 1 - LIPT1 - - MGC12290 - MGC13378 - - - gene with protein product - - - - ClinVar - LIPT1 - - - Ensembl - ENSG00000144182 - - - Genatlas - LIPT1 - - - HGNC - 29569 - - - OMIM - 610284 - - - Reactome - Q9Y234 - - - SwissProt - Q9Y234 - - - - - 2q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 400025 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=400025 - Female infertility due to an implantation defect of genetic origin - - Category - - - Group of disorders - - - - 34611029[PMID] - - ZFP36 ring finger protein like 2 - ZFP36L2 - - ERF2 - RNF162C - TIS11D - - - gene with protein product - - - - Ensembl - ENSG00000152518 - - - OMIM - 612053 - - - SwissProt - P47974 - - - HGNC - 1108 - - - - - 2p21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 401920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401920 - Fibrolamellar hepatocellular carcinoma - - Disease - - - Disorder - - - - 24578576[PMID] - - DnaJ heat shock protein family (Hsp40) member B1 - DNAJB1 - - Hsp40 - RSPH16B - Sis1 - radial spoke 16 homolog B (Chlamydomonas) - - - gene with protein product - - - - Genatlas - DNAJB1 - - - HGNC - 5270 - - - OMIM - 604572 - - - Reactome - P25685 - - - SwissProt - P25685 - - - Ensembl - ENSG00000132002 - - - ClinVar - DNAJB1 - - - - - 19p13.12 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 24578576[PMID] - - protein kinase cAMP-activated catalytic subunit alpha - PRKACA - - PKA C-alpha - PKACa - cAMP-dependent protein kinase catalytic subunit alpha - - - gene with protein product - - - - Ensembl - ENSG00000072062 - - - Genatlas - PRKACA - - - HGNC - 9380 - - - IUPHAR - 1476 - - - OMIM - 601639 - - - Reactome - P17612 - - - SwissProt - P17612 - - - ClinVar - PRKACA - - - - - 19p13.12 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 401911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401911 - AXIN2-related polyposis - - Disease - - - Disorder - - - - 23838596[PMID] - - axin 2 - AXIN2 - - DKFZp781B0869 - MGC126582 - axil - conductin - - - gene with protein product - - - - IUPHAR - 3237 - - - ClinVar - AXIN2 - - - Ensembl - ENSG00000168646 - - - Genatlas - AXIN2 - - - HGNC - 904 - - - OMIM - 604025 - - - Reactome - Q9Y2T1 - - - SwissProt - Q9Y2T1 - - - - - 17q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 401901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401901 - Huntington disease-like syndrome due to C9ORF72 expansions - - Disease - - - Disorder - - - - 24363131[PMID] - - C9orf72-SMCR8 complex subunit - C9ORF72 - - MGC23980 - DENNL72 - DENND9 - - - gene with protein product - - - - ClinVar - C9orf72 - - - Ensembl - ENSG00000147894 - - - Genatlas - C9orf72 - - - HGNC - 28337 - - - OMIM - 614260 - - - SwissProt - Q96LT7 - - - - - 9p21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 401959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401959 - Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome - - Malformation syndrome - - - Disorder - - - - 24045845[PMID] - - karyopherin subunit alpha 7 - KPNA7 - - IPOA8 - importin alpha 8 - - - gene with protein product - - - - Ensembl - ENSG00000185467 - - - HGNC - 21839 - - - OMIM - 614107 - - - Reactome - A9QM74 - - - SwissProt - A9QM74 - - - - - 7q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 401948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401948 - Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency - - Disease - - - Disorder - - - - 24530203[PMID] - - carbonic anhydrase 5A - CA5A - - CAV - CAVA - - - gene with protein product - - - - ClinVar - CA5A - - - OMIM - 114761 - - - Reactome - P35218 - - - SwissProt - P35218 - - - Ensembl - ENSG00000174990 - - - Genatlas - CA5A - - - HGNC - 1377 - - - IUPHAR - 3093 - - - - - 16q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 401945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401945 - Moyamoya disease with early-onset achalasia - - Disease - - - Disorder - - - - 24581742[PMID] - - guanylate cyclase 1 soluble subunit alpha 1 - GUCY1A1 - - GC-SA3 - - - gene with protein product - - - - Ensembl - ENSG00000164116 - - - Genatlas - GUCY1A3 - - - HGNC - 4685 - - - OMIM - 139396 - - - Reactome - Q02108 - - - SwissProt - Q02108 - - - IUPHAR - 1288 - - - ClinVar - GUCY1A3 - - - - - 4q32.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 401986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401986 - 1p31p32 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - 24462883[PMID] - - nuclear factor I A - NFIA - - KIAA1439 - NFI-L - - - gene with protein product - - - - Ensembl - ENSG00000162599 - - - Genatlas - NFIA - - - HGNC - 7784 - - - OMIM - 600727 - - - Reactome - Q12857 - - - SwissProt - Q12857 - - - ClinVar - NFIA - - - - - 1p31.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 401979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401979 - Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type - - Malformation syndrome - - - Disorder - - - - 24786642[PMID] - - presequence translocase associated motor 16 - PAM16 - - Magmas - TIMM16 - Tim16 - mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction - - - gene with protein product - - - - ClinVar - MAGMAS - - - Ensembl - ENSG00000217930 - - - Genatlas - MAGMAS - - - HGNC - 29679 - - - OMIM - 614336 - - - Reactome - Q9Y3D7 - - - SwissProt - Q9Y3D7 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 401973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401973 - MEND syndrome - - Malformation syndrome - - - Disorder - - - - 24459067[PMID] - - EBP cholestenol delta-isomerase - EBP - - CHO2 - CPX - CPXD - Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome) - sterol 8-isomerase - 3-beta-hydroxysteroid-delta-8,delta-7-isomerase - - - gene with protein product - - - - SwissProt - Q15125 - - - Ensembl - ENSG00000147155 - - - Genatlas - EBP - - - HGNC - 3133 - - - OMIM - 300205 - - - Reactome - Q15125 - - - ClinVar - EBP - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 401964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401964 - Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons - - Disease - - - Disorder - - - - 24500646[PMID] - - DDB1 and CUL4 associated factor 8 - DCAF8 - - FLJ35857 - H326 - - - gene with protein product - - - - Ensembl - ENSG00000132716 - - - HGNC - 24891 - - - OMIM - 615820 - - - SwissProt - Q5TAQ9 - - - Reactome - Q5TAQ9 - - - - - 1q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 402003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402003 - Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering - - Disease - - - Disorder - - - - 21801157[PMID]_19609311[PMID] - - keratin 6C - KRT6C - - - - gene with protein product - - - - Reactome - P48668 - - - ClinVar - KRT6C - - - Ensembl - ENSG00000170465 - - - Genatlas - KRT6C - - - HGNC - 20406 - - - OMIM - 612315 - - - SwissProt - P48668 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 401996 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401996 - Karyomegalic interstitial nephritis - - Disease - - - Disorder - - - - 22772369[PMID] - - FANCD2 and FANCI associated nuclease 1 - FAN1 - - - - gene with protein product - - - - ClinVar - FAN1 - - - Ensembl - ENSG00000198690 - - - Genatlas - FAN1 - - - HGNC - 29170 - - - OMIM - 613534 - - - Reactome - Q9Y2M0 - - - SwissProt - Q9Y2M0 - - - - - 15q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 402017 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402017 - Acute myeloid leukemia with t(9;11)(p22;q23) - - Disease - - - Disorder - - - - 19357394[PMID] - - lysine methyltransferase 2A - KMT2A - - HTRX - ALL1 - ALL-1 - CXXC7 - HRX - HTRX1 - MLL1A - TRX1 - MLL1 - Histone-lysine N-methyltransferase 2A - - - gene with protein product - - - - ClinVar - KMT2A - - - IUPHAR - 2688 - - - Ensembl - ENSG00000118058 - - - Genatlas - KMT2A - - - HGNC - 7132 - - - OMIM - 159555 - - - Reactome - Q03164 - - - SwissProt - Q03164 - - - - - 11q23.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 19357394[PMID] - - MLLT3 super elongation complex subunit - MLLT3 - - AF-9 - AF9 - YEATS3 - - - gene with protein product - - - - Genatlas - MLLT3 - - - HGNC - 7136 - - - OMIM - 159558 - - - SwissProt - P42568 - - - Ensembl - ENSG00000171843 - - - Reactome - P42568 - - - ClinVar - MLLT3 - - - - - 9p21.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 402020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402020 - Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) - - Disease - - - Disorder - - - - 19357394[PMID]_20556821[PMID] - - MDS1 and EVI1 complex locus - MECOM - - MDS1-EVI1 - PR domain 3 - PRDM3 - KMT8E - - - gene with protein product - - - - SwissProt - Q03112 - - - Ensembl - ENSG00000085276 - - - Genatlas - MECOM - - - HGNC - 3498 - - - OMIM - 165215 - - - Reactome - Q03112 - - - ClinVar - MECOM - - - - - 3q26.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 19357394[PMID]_20556821[PMID] - - ribophorin I - RPN1 - - OST1 - oligosaccharyltransferase 1 homolog (S. cerevisiae) - oligosaccharyltransferase complex subunit (non-catalytic) - - - gene with protein product - - - - Ensembl - ENSG00000163902 - - - Genatlas - RPN1 - - - HGNC - 10381 - - - OMIM - 180470 - - - Reactome - P04843 - - - SwissProt - P04843 - - - ClinVar - RPN1 - - - - - 3q21.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 402014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402014 - Acute myeloid leukemia with t(6;9)(p23;q34) - - Disease - - - Disorder - - - - 19357394[PMID] - - nucleoporin 214 - NUP214 - - CAIN - CAN - CAN protein, putative oncogene - D9S46E - N214 - nuclear pore complex protein Nup214 - - - gene with protein product - - - - ClinVar - NUP214 - - - Ensembl - ENSG00000126883 - - - Genatlas - NUP214 - - - HGNC - 8064 - - - OMIM - 114350 - - - Reactome - P35658 - - - SwissProt - P35658 - - - - - 9q34.13 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 19357394[PMID] - - DEK proto-oncogene - DEK - - D6S231E - - - gene with protein product - - - - ClinVar - DEK - - - Ensembl - ENSG00000124795 - - - Genatlas - DEK - - - HGNC - 2768 - - - OMIM - 125264 - - - Reactome - P35659 - - - SwissProt - P35659 - - - - - 6p22.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 402023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402023 - Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) - - Disease - - - Disorder - - - - 19357394[PMID] - - RNA binding motif protein 15 - RBM15 - - one twenty-two - OTT - OTT1 - - - gene with protein product - - - - Ensembl - ENSG00000162775 - - - Genatlas - RBM15 - - - HGNC - 14959 - - - OMIM - 606077 - - - SwissProt - Q96T37 - - - ClinVar - RBM15 - - - - - 1p13.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 19357394[PMID] - - myocardin related transcription factor A - MRTFA - - MKL - BSAC - KIAA1438 - MAL - MRTF-A - basic, SAP and coiled-coil domain - megakaryocytic acute leukemia - myocardin-related transcription factor A - - - gene with protein product - - - - Ensembl - ENSG00000196588 - - - Genatlas - MKL1 - - - HGNC - 14334 - - - OMIM - 606078 - - - Reactome - Q969V6 - - - SwissProt - Q969V6 - - - ClinVar - MKL1 - - - - - 22q13.1-q13.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 402026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402026 - Acute myeloid leukemia with NPM1 somatic mutations - - Disease - - - Disorder - - - - 19357394[PMID]_23301224[PMID] - - nucleophosmin 1 - NPM1 - - B23 - NPM - Nucleophosmin/nucleoplasmin family, member 1 - Numatrin - nucleolar phosphoprotein B23 - numatrin - nucleophosmin/nucleoplasmin family, member 1 - - - gene with protein product - - - - Ensembl - ENSG00000181163 - - - Genatlas - NPM1 - - - HGNC - 7910 - - - OMIM - 164040 - - - Reactome - P06748 - - - SwissProt - P06748 - - - ClinVar - NPM1 - - - - - 5q35.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 402082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402082 - Progressive myoclonic epilepsy type 5 - - Disease - - - Disorder - - - - 21276947[PMID]_26942291[PMID] - - prickle planar cell polarity protein 2 - PRICKLE2 - - DKFZp686D143 - - - gene with protein product - - - - Ensembl - ENSG00000163637 - - - Genatlas - PRICKLE2 - - - HGNC - 20340 - - - OMIM - 608501 - - - SwissProt - Q7Z3G6 - - - ClinVar - PRICKLE2 - - - - - 3p14.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 26942291[PMID] - - DNA polymerase gamma, catalytic subunit - POLG - - POLG1 - POLGA - - - gene with protein product - - - - Ensembl - ENSG00000140521 - - - Genatlas - POLG - - - HGNC - 9179 - - - OMIM - 174763 - - - SwissProt - P54098 - - - Reactome - P54098 - - - ClinVar - POLG - - - - - 15q26.1 - 1 - - - - - Candidate gene tested in - - - Assessed - - - - - - 402364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402364 - Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly - - Malformation syndrome - - - Disorder - - - - 20950787[PMID] - - mediator complex subunit 17 - MED17 - - SRB4 - CRSP77 - DRIP80 - TRAP80 - - - gene with protein product - - - - Ensembl - ENSG00000042429 - - - Genatlas - MED17 - - - HGNC - 2375 - - - OMIM - 603810 - - - Reactome - Q9NVC6 - - - SwissProt - Q9NVC6 - - - ClinVar - MED17 - - - - - 11q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 402041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402041 - Autosomal recessive distal renal tubular acidosis - - Clinical subtype - - - Subtype of disorder - - - - 29242249[PMID] - - forkhead box I1 - FOXI1 - - FREAC6 - - - gene with protein product - - - - Ensembl - ENSG00000168269 - - - Genatlas - FOXI1 - - - HGNC - 3815 - - - OMIM - 601093 - - - SwissProt - Q12951 - - - ClinVar - FOXI1 - - - - - 5q35.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23729491[PMID] - - ATPase H+ transporting V0 subunit a4 - ATP6V0A4 - - RDRTA2 - RTADR - Stv1 - VPP2 - Vph1 - a4 - V-ATPase subunit a4 - vacuolar proton pump subunit 2 - - - gene with protein product - - - - Ensembl - ENSG00000105929 - - - Genatlas - ATP6V0A4 - - - HGNC - 866 - - - OMIM - 605239 - - - Reactome - Q9HBG4 - - - SwissProt - Q9HBG4 - - - IUPHAR - 826 - - - ClinVar - ATP6V0A4 - - - - - 7q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23729491[PMID] - - ATPase H+ transporting V1 subunit B1 - ATP6V1B1 - - RTA1B - Renal tubular acidosis with deafness - VATB - Vma2 - V-ATPase subunit B1 - - - gene with protein product - - - - Ensembl - ENSG00000116039 - - - IUPHAR - 811 - - - Genatlas - ATP6V1B1 - - - HGNC - 853 - - - OMIM - 192132 - - - Reactome - P15313 - - - SwissProt - P15313 - - - ClinVar - ATP6V1B1 - - - - - 2p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30028003[PMID] - - WD repeat domain 72 - WDR72 - - FLJ38736 - - - gene with protein product - - - - ClinVar - WDR72 - - - HGNC - 26790 - - - OMIM - 613214 - - - SwissProt - Q3MJ13 - - - Ensembl - ENSG00000166415 - - - Genatlas - WDR72 - - - - - 15q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 402075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402075 - Familial bicuspid aortic valve - - Morphological anomaly - - - Disorder - - - - 25438918[PMID] - - NK2 homeobox 5 - NKX2-5 - - tinman paralog (Drosophila) - CSX1 - NKX2.5 - NKX4-1 - tinman (Drosophila) homolog - - - gene with protein product - - - - Reactome - P52952 - - - SwissProt - P52952 - - - Ensembl - ENSG00000183072 - - - Genatlas - NKX2-5 - - - HGNC - 2488 - - - OMIM - 600584 - - - ClinVar - NKX2-5 - - - - - 5q35.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24638895[PMID] - - GATA binding protein 5 - GATA5 - - GATAS - bB379O24.1 - - - gene with protein product - - - - HGNC - 15802 - - - OMIM - 611496 - - - Reactome - Q9BWX5 - - - SwissProt - Q9BWX5 - - - Ensembl - ENSG00000130700 - - - Genatlas - GATA5 - - - ClinVar - GATA5 - - - - - 20q13.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 16025100[PMID] - - notch receptor 1 - NOTCH1 - - - - gene with protein product - - - - Ensembl - ENSG00000148400 - - - Genatlas - NOTCH1 - - - HGNC - 7881 - - - OMIM - 190198 - - - Reactome - P46531 - - - SwissProt - P46531 - - - IUPHAR - 2861 - - - ClinVar - NOTCH1 - - - - - 9q34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22275001[PMID] - - SMAD family member 6 - SMAD6 - - HsT17432 - - - gene with protein product - - - - Ensembl - ENSG00000137834 - - - Genatlas - SMAD6 - - - HGNC - 6772 - - - OMIM - 602931 - - - Reactome - O43541 - - - SwissProt - O43541 - - - ClinVar - SMAD6 - - - - - 15q22.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 806 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=806 - Scott syndrome - - Disease - - - Disorder - - - - 21107324[PMID]_21511967[PMID] - - anoctamin 6 - ANO6 - - DKFZp313M0720 - - - gene with protein product - - - - Ensembl - ENSG00000177119 - - - Genatlas - ANO6 - - - HGNC - 25240 - - - OMIM - 608663 - - - Reactome - Q4KMQ2 - - - SwissProt - Q4KMQ2 - - - ClinVar - ANO6 - - - - - 12q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 404473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404473 - Intellectual disability-peripheral spasticity-exudative vitreoretinopathy syndrome - - Malformation syndrome - - - Disorder - - - - 24614104[PMID] - - catenin beta 1 - CTNNB1 - - armadillo - beta-catenin - - - gene with protein product - - - - ClinVar - CTNNB1 - - - Ensembl - ENSG00000168036 - - - Genatlas - CTNNB1 - - - HGNC - 2514 - - - OMIM - 116806 - - - Reactome - P35222 - - - SwissProt - P35222 - - - - - 3p22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 404463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404463 - Multisystemic smooth muscle dysfunction syndrome - - Disease - - - Disorder - - - - 20734336[PMID] - - actin alpha 2, smooth muscle - ACTA2 - - ACTSA - - - gene with protein product - - - - ClinVar - ACTA2 - - - Ensembl - ENSG00000107796 - - - Genatlas - ACTA2 - - - HGNC - 130 - - - OMIM - 102620 - - - Reactome - P62736 - - - SwissProt - P62736 - - - - - 10q23.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 404466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404466 - Female infertility due to zona pellucida defect - - Disease - - - Disorder - - - - 28646452[PMID] - - zona pellucida glycoprotein 2 - ZP2 - - zona pellucida 2 - ZPA - - - gene with protein product - - - - ClinVar - ZP2 - - - HGNC - 13188 - - - Ensembl - ENSG00000103310 - - - SwissProt - Q05996 - - - OMIM - 182888 - - - Genatlas - ZP2 - - - Reactome - Q05996 - - - - - 16p12.3-p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28886340[PMID] - - zona pellucida glycoprotein 3 - ZP3 - - ZP3-372 - ZP3-424 - ZPC - - - gene with protein product - - - - HGNC - 13189 - - - Ensembl - ENSG00000188372 - - - SwissProt - P21754 - - - OMIM - 182889 - - - Genatlas - ZP3 - - - Reactome - P21754 - - - ClinVar - ZP3 - - - - - 7q11.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24670168[PMID] - - zona pellucida glycoprotein 1 - ZP1 - - ZPB1 - - - gene with protein product - - - - ClinVar - ZP1 - - - Ensembl - ENSG00000149506 - - - Genatlas - ZP1 - - - HGNC - 13187 - - - OMIM - 195000 - - - Reactome - P60852 - - - SwissProt - P60852 - - - - - 11q12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 404451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404451 - FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome - - Malformation syndrome - - - Disorder - - - - 24084572[PMID] - - fibulin 1 - FBLN1 - - FBLN - - - gene with protein product - - - - Genatlas - FBLN1 - - - HGNC - 3600 - - - OMIM - 135820 - - - Reactome - P23142 - - - SwissProt - P23142 - - - Ensembl - ENSG00000077942 - - - ClinVar - FBLN1 - - - - - 22q13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 404454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404454 - Alacrimia-choreoathetosis-liver dysfunction syndrome - - Disease - - - Disorder - - - - 24651605[PMID] - - N-glycanase 1 - NGLY1 - - FLJ11005 - PNG1 - peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase - peptide:N-glycanase - PNG-1 - - - gene with protein product - - - - Reactome - Q96IV0 - - - ClinVar - NGLY1 - - - Ensembl - ENSG00000151092 - - - Genatlas - NGLY1 - - - HGNC - 17646 - - - OMIM - 610661 - - - SwissProt - Q96IV0 - - - - - 3p24.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 404443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404443 - Tatton-Brown-Rahman syndrome - - Malformation syndrome - - - Disorder - - - - 24614070[PMID]_27701732[PMID] - - DNA methyltransferase 3 alpha - DNMT3A - - - - gene with protein product - - - - ClinVar - DNMT3A - - - Ensembl - ENSG00000119772 - - - Genatlas - DNMT3A - - - HGNC - 2978 - - - IUPHAR - 2750 - - - OMIM - 602769 - - - Reactome - Q9Y6K1 - - - SwissProt - Q9Y6K1 - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 404448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404448 - ADNP syndrome - - Malformation syndrome - - - Disorder - - - - 24531329[PMID] - - activity dependent neuroprotector homeobox - ADNP - - ADNP homeobox 1 - ADNP1 - KIAA0784 - activity-dependent neuroprotective protein - - - gene with protein product - - - - Reactome - Q9H2P0 - - - ClinVar - ADNP - - - Ensembl - ENSG00000101126 - - - Genatlas - ADNP - - - HGNC - 15766 - - - OMIM - 611386 - - - SwissProt - Q9H2P0 - - - - - 20q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 404437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404437 - Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome - - Malformation syndrome - - - Disorder - - - - 24656866[PMID] - - glutaminyl-tRNA synthetase 1 - QARS1 - - glutamine tRNA ligase - - - gene with protein product - - - - ClinVar - QARS - - - Ensembl - ENSG00000172053 - - - Genatlas - QARS - - - HGNC - 9751 - - - OMIM - 603727 - - - Reactome - P47897 - - - SwissProt - P47897 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 404560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404560 - Familial atypical multiple mole melanoma syndrome - - Disease - - - Disorder - - - - 21249757[PMID] - - cyclin dependent kinase inhibitor 2A - CDKN2A - - ARF - CDK4I - CMM2 - INK4 - INK4a - MTS1 - p14 - p14ARF - p16 - p16INK4a - p19 - p19Arf - inhibitor of cdk4 A - P16-INK4A - CDKN2A/ARF Intron 2 lncRNA - multiple tumour suppressor 1 - cyclin-dependent kinase 4 inhibitor A - p14 alternate open reading frame - p19 alternate open reading frame - CAI2 - - - gene with protein product - - - - Ensembl - ENSG00000147889 - - - Genatlas - CDKN2A - - - HGNC - 1787 - - - OMIM - 600160 - - - Reactome - P42771 - - - SwissProt - P42771 - - - ClinVar - CDKN2A - - - - - 9p21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 404553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404553 - Deficiency of adenosine deaminase 2 - - Disease - - - Disorder - - - - 24552284[PMID]_24552285[PMID] - - adenosine deaminase 2 - ADA2 - - ADGF - - - gene with protein product - - - - Ensembl - ENSG00000093072 - - - Genatlas - CECR1 - - - HGNC - 1839 - - - OMIM - 607575 - - - Reactome - Q9NZK5 - - - SwissProt - Q9NZK5 - - - ClinVar - ADA2 - - - - - 22q11.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 404546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404546 - DITRA - - Disease - - - Disorder - - - - 24131530[PMID] - - interleukin 36 receptor antagonist - IL36RN - - FIL1 - FIL1(DELTA) - FIL1D - IL-1 related protein 3 - IL-1F5 - IL1HY1 - IL1L1 - IL1RP3 - IL36RA - MGC29840 - family of interleukin 1-delta - interleukin-1 HY1 - interleukin-1 receptor antagonist homolog 1 - - - gene with protein product - - - - ClinVar - IL36RN - - - Ensembl - ENSG00000136695 - - - Genatlas - IL36RN - - - HGNC - 15561 - - - OMIM - 605507 - - - SwissProt - Q9UBH0 - - - Reactome - Q9UBH0 - - - - - 2q14.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 404521 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404521 - Spinal muscular atrophy with respiratory distress type 2 - - Disease - - - Disorder - - - - 24647030[PMID] - - LAS1 like ribosome biogenesis factor - LAS1L - - FLJ12525 - Las1 - - - gene with protein product - - - - Ensembl - ENSG00000001497 - - - Genatlas - LAS1L - - - HGNC - 25726 - - - OMIM - 300964 - - - SwissProt - Q9Y4W2 - - - Reactome - Q9Y4W2 - - - ClinVar - LAS1L - - - - - Xq12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 404511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404511 - Clear cell papillary renal cell carcinoma - - Histopathological subtype - - - Subtype of disorder - - - - 8620471[PMID]_15649945[PMID] - - HNF1 homeobox A - HNF1A - - HNF1 - LFB1 - HNF1a - HNF1α - - - gene with protein product - - - - ClinVar - HNF1A - - - Genatlas - HNF1A - - - HGNC - 11621 - - - OMIM - 142410 - - - Reactome - P20823 - - - SwissProt - P20823 - - - Ensembl - ENSG00000135100 - - - - - 12q24.31 - 1 - - - - - Biomarker tested in - - - Not yet assessed - - - - 24334765[PMID] - - transmembrane protein 127 - TMEM127 - - FLJ20507 - FLJ22257 - - - gene with protein product - - - - Ensembl - ENSG00000135956 - - - Genatlas - TMEM127 - - - HGNC - 26038 - - - OMIM - 613403 - - - SwissProt - O75204 - - - ClinVar - TMEM127 - - - - - 2q11.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22012259[PMID] - - melanocyte inducing transcription factor - MITF - - MI - bHLHe32 - homolog of mouse microphthalmia - - - gene with protein product - - - - Ensembl - ENSG00000187098 - - - Genatlas - MITF - - - HGNC - 7105 - - - OMIM - 156845 - - - Reactome - O75030 - - - SwissProt - O75030 - - - ClinVar - MITF - - - - - 3p13 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 25911086[PMID] - - polybromo 1 - PBRM1 - - BAF180 - PB1 - SMARCH1 - - - gene with protein product - - - - IUPHAR - 2738 - - - OMIM - 606083 - - - Reactome - Q86U86 - - - SwissProt - Q86U86 - - - Ensembl - ENSG00000163939 - - - Genatlas - PBRM1 - - - HGNC - 30064 - - - ClinVar - PBRM1 - - - - - 3p21.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 404507 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404507 - Chondromyxoid fibroma - - Disease - - - Disorder - - - - 24658000[PMID] - - glutamate metabotropic receptor 1 - GRM1 - - GPRC1A - MGLUR1 - PPP1R85 - mGlu1 - protein phosphatase 1, regulatory subunit 85 - - - gene with protein product - - - - Ensembl - ENSG00000152822 - - - Genatlas - GRM1 - - - HGNC - 4593 - - - IUPHAR - 289 - - - OMIM - 604473 - - - Reactome - Q13255 - - - SwissProt - Q13255 - - - ClinVar - GRM1 - - - - - 6q24.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 404499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404499 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency - - Disease - - - Disorder - - - - 23728897[PMID] - - rubicon autophagy regulator - RUBCN - - rubicon - rundataxin - - - gene with protein product - - - - Reactome - Q92622 - - - SwissProt - Q92622 - - - Ensembl - ENSG00000145016 - - - HGNC - 28991 - - - OMIM - 613516 - - - Genatlas - RUBCN - - - ClinVar - RUBCN - - - - - 3q29 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 404493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404493 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency - - Disease - - - Disorder - - - - 24658003[PMID] - - tyrosyl-DNA phosphodiesterase 2 - TDP2 - - - - gene with protein product - - - - ClinVar - TDP2 - - - Ensembl - ENSG00000111802 - - - Genatlas - TDP2 - - - HGNC - 17768 - - - OMIM - 605764 - - - Reactome - O95551 - - - SwissProt - O95551 - - - - - 6p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 404476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404476 - Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome - - Malformation syndrome - - - Disorder - - - - 24676357[PMID] - - dicer 1, ribonuclease III - DICER1 - - Dicer - HERNA - K12H4.8-LIKE - KIAA0928 - dicer 1, double-stranded RNA-specific endoribonuclease - - - gene with protein product - - - - ClinVar - DICER1 - - - Ensembl - ENSG00000100697 - - - Genatlas - DICER1 - - - HGNC - 17098 - - - OMIM - 606241 - - - Reactome - Q9UPY3 - - - SwissProt - Q9UPY3 - - - - - 14q32.13 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 411536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411536 - Mild phosphoribosylpyrophosphate synthetase superactivity - - Clinical subtype - - - Subtype of disorder - - - - 20301734PMID] - - phosphoribosyl pyrophosphate synthetase 1 - PRPS1 - - PRS I - ribose-phosphate diphosphokinase 1 - CMTX5 - DFNX1 - PRS-I - PPRibP - - - gene with protein product - - - - ClinVar - PRPS1 - - - Ensembl - ENSG00000147224 - - - Genatlas - PRPS1 - - - HGNC - 9462 - - - OMIM - 311850 - - - Reactome - P60891 - - - SwissProt - P60891 - - - - - Xq22.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 411543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411543 - Severe phosphoribosylpyrophosphate synthetase superactivity - - Clinical subtype - - - Subtype of disorder - - - - 20301734[PMID] - - phosphoribosyl pyrophosphate synthetase 1 - PRPS1 - - PRS I - ribose-phosphate diphosphokinase 1 - CMTX5 - DFNX1 - PRS-I - PPRibP - - - gene with protein product - - - - ClinVar - PRPS1 - - - Ensembl - ENSG00000147224 - - - Genatlas - PRPS1 - - - HGNC - 9462 - - - OMIM - 311850 - - - Reactome - P60891 - - - SwissProt - P60891 - - - - - Xq22.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 411590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411590 - Wolfram-like syndrome - - Disease - - - Disorder - - - - 20069065[PMID]_20301750[PMID] - - wolframin ER transmembrane glycoprotein - WFS1 - - DIDMOAD - WFS - - - gene with protein product - - - - ClinVar - WFS1 - - - Ensembl - ENSG00000109501 - - - Genatlas - WFS1 - - - HGNC - 12762 - - - OMIM - 606201 - - - Reactome - O76024 - - - SwissProt - O76024 - - - - - 4p16.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 411602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411602 - Hereditary late-onset Parkinson disease - - Disease - - - Disorder - - - - 17489854[PMID]_18704525[PMID]_20013014[PMID]_24768741[PMID]_17489854[PMID]_18704525[PMID] - - synuclein alpha - SNCA - - NACP - PD1 - alpha-synuclein - non A4 component of amyloid precursor - a-synuclein - - - gene with protein product - - - - IUPHAR - 3285 - - - ClinVar - SNCA - - - Ensembl - ENSG00000145335 - - - Genatlas - SNCA - - - HGNC - 11138 - - - OMIM - 163890 - - - Reactome - P37840 - - - SwissProt - P37840 - - - - - 4q22.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 18987351[PMID] - - glucosylceramidase beta 1 - GBA1 - - GBA1 - glucocerebrosidase - - - gene with protein product - - - - ClinVar - GBA - - - Ensembl - ENSG00000177628 - - - Genatlas - GBA - - - HGNC - 4177 - - - OMIM - 606463 - - - Reactome - P04062 - - - SwissProt - P04062 - - - IUPHAR - 2978 - - - - - 1q22 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22166458[PMID] - - leucine rich repeat kinase 2 - LRRK2 - - dardarin - DKFZp434H2111 - FLJ45829 - RIPK7 - ROCO2 - - - gene with protein product - - - - ClinVar - LRRK2 - - - Reactome - Q5S007 - - - Ensembl - ENSG00000188906 - - - Genatlas - LRRK2 - - - HGNC - 18618 - - - IUPHAR - 2059 - - - OMIM - 609007 - - - SwissProt - Q5S007 - - - - - 12q12 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - eukaryotic translation initiation factor 4 gamma 1 - EIF4G1 - - PARK18 - p220 - - - gene with protein product - - - - ClinVar - EIF4G1 - - - Ensembl - ENSG00000114867 - - - Genatlas - EIF4G1 - - - HGNC - 3296 - - - OMIM - 600495 - - - Reactome - Q04637 - - - SwissProt - Q04637 - - - - - 3q27.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 22166458[PMID] - - VPS35 retromer complex component - VPS35 - - FLJ10752 - MEM3 - PARK17 - - - gene with protein product - - - - ClinVar - VPS35 - - - Ensembl - ENSG00000069329 - - - Genatlas - VPS35 - - - HGNC - 13487 - - - OMIM - 601501 - - - Reactome - Q96QK1 - - - SwissProt - Q96QK1 - - - - - 16q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24218364[PMID] - - DnaJ heat shock protein family (Hsp40) member C13 - DNAJC13 - - KIAA0678 - RME8 - - - gene with protein product - - - - Ensembl - ENSG00000138246 - - - Reactome - O75165 - - - ClinVar - DNAJC13 - - - Genatlas - DNAJC13 - - - HGNC - 30343 - - - OMIM - 614334 - - - SwissProt - O75165 - - - - - 3q22.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - GRB10 interacting GYF protein 2 - GIGYF2 - - GYF domain containing 2 - GYF2 - KIAA0642 - - - gene with protein product - - - - ClinVar - GIGYF2 - - - Ensembl - ENSG00000204120 - - - Genatlas - GIGYF2 - - - HGNC - 11960 - - - OMIM - 612003 - - - SwissProt - Q6Y7W6 - - - - - 2q37.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 411629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411629 - Infantile nephropathic cystinosis - - Clinical subtype - - - Subtype of disorder - - - - 20301574[PMID] - - cystinosin, lysosomal cystine transporter - CTNS - - CTNS-LSB - PQLC4 - SLC66A4 - - - gene with protein product - - - - IUPHAR - 3163 - - - ClinVar - CTNS - - - Ensembl - ENSG00000040531 - - - Genatlas - CTNS - - - HGNC - 2518 - - - OMIM - 606272 - - - Reactome - O60931 - - - SwissProt - O60931 - - - - - 17p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 411493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411493 - Pontocerebellar hypoplasia type 10 - - Malformation syndrome - - - Disorder - - - - 24766809[PMID]_24766810[PMID] - - cleavage factor polyribonucleotide kinase subunit 1 - CLP1 - - ATP/GTPbinding protein - HEAB - hClp1 - polyribonucleotide 5'-hydroxyl-kinase - - - gene with protein product - - - - ClinVar - CLP1 - - - Ensembl - ENSG00000172409 - - - Genatlas - CLP1 - - - HGNC - 16999 - - - OMIM - 608757 - - - Reactome - Q92989 - - - SwissProt - Q92989 - - - - - 11q12.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 411511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411511 - Angelman syndrome due to a point mutation - - Etiological subtype - - - Subtype of disorder - - - - 22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID] - - ubiquitin protein ligase E3A - UBE3A - - ANCR - AS - Angelman syndrome - E6-AP - FLJ26981 - - - gene with protein product - - - - ClinVar - UBE3A - - - Ensembl - ENSG00000114062 - - - Genatlas - UBE3A - - - HGNC - 12496 - - - OMIM - 601623 - - - Reactome - Q05086 - - - SwissProt - Q05086 - - - - - 15q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 411515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411515 - Angelman syndrome due to imprinting defect in 15q11-q13 - - Etiological subtype - - - Subtype of disorder - - - - 17347796[PMID]_22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID] - - small nuclear ribonucleoprotein polypeptide N - SNRPN - - HCERN3 - RT-LI - SM protein N - SM-D - SMN - SNRNP-N - SNURF-SNRPN - small nuclear ribonucleoprotein N - tissue-specific splicing protein - - - gene with protein product - - - - Reactome - P63162 - - - Ensembl - ENSG00000128739 - - - Genatlas - SNRPN - - - HGNC - 11164 - - - OMIM - 182279 - - - SwissProt - P63162 - - - ClinVar - SNRPN - - - - - 15q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 17347796[PMID]_22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID] - - ubiquitin protein ligase E3A - UBE3A - - ANCR - AS - Angelman syndrome - E6-AP - FLJ26981 - - - gene with protein product - - - - ClinVar - UBE3A - - - Ensembl - ENSG00000114062 - - - Genatlas - UBE3A - - - HGNC - 12496 - - - OMIM - 601623 - - - Reactome - Q05086 - - - SwissProt - Q05086 - - - - - 15q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 11326269[PMID]_17347796[PMID] - - ATPase phospholipid transporting 10A (putative) - ATP10A - - ATPVA - ATPVC - KIAA0566 - - - gene with protein product - - - - IUPHAR - 862 - - - ClinVar - ATP10A - - - Ensembl - ENSG00000206190 - - - Genatlas - ATP10A - - - HGNC - 13542 - - - OMIM - 605855 - - - Reactome - O60312 - - - SwissProt - O60312 - - - - - 15q12 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 411712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411712 - Maternal riboflavin deficiency - - Disease - - - Disorder - - - - 17689999[PMID]_21089064[PMID] - - solute carrier family 52 member 1 - SLC52A1 - - FLJ10060 - GPCR42 - PAR2 - RFVT1 - Riboflavin transporter 1 - hRFT1 - riboflavin transporter 1 - - - gene with protein product - - - - Ensembl - ENSG00000132517 - - - Genatlas - SLC52A1 - - - HGNC - 30225 - - - OMIM - 607883 - - - SwissProt - Q9NWF4 - - - IUPHAR - 2571 - - - ClinVar - SLC52A1 - - - Reactome - Q9NWF4 - - - - - 17p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 411788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411788 - Familial isolated trichomegaly - - Disease - - - Disorder - - - - 24989505[PMID] - - fibroblast growth factor 5 - FGF5 - - - - gene with protein product - - - - ClinVar - FGF5 - - - Ensembl - ENSG00000138675 - - - Genatlas - FGF5 - - - HGNC - 3683 - - - OMIM - 165190 - - - Reactome - P12034 - - - SwissProt - P12034 - - - - - 4q21.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 411986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411986 - Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - 24814191[PMID] - - dedicator of cytokinesis 7 - DOCK7 - - KIAA1771 - ZIR2 - - - gene with protein product - - - - ClinVar - DOCK7 - - - Ensembl - ENSG00000116641 - - - Genatlas - DOCK7 - - - HGNC - 19190 - - - OMIM - 615730 - - - Reactome - Q96N67 - - - SwissProt - Q96N67 - - - - - 1p31.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 412022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412022 - Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome - - Malformation syndrome - - - Disorder - - - - 24768550[PMID] - - aspartate beta-hydroxylase - ASPH - - BAH - CASQ2BP1 - HAAH - JCTN - humbug - junctate - junctin - - - gene with protein product - - - - ClinVar - ASPH - - - Ensembl - ENSG00000198363 - - - Genatlas - ASPH - - - HGNC - 757 - - - OMIM - 600582 - - - Reactome - Q12797 - - - SwissProt - Q12797 - - - - - 8q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 411641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411641 - Ocular cystinosis - - Clinical subtype - - - Subtype of disorder - - - - 20301574[PMID] - - cystinosin, lysosomal cystine transporter - CTNS - - CTNS-LSB - PQLC4 - SLC66A4 - - - gene with protein product - - - - IUPHAR - 3163 - - - ClinVar - CTNS - - - Ensembl - ENSG00000040531 - - - Genatlas - CTNS - - - HGNC - 2518 - - - OMIM - 606272 - - - Reactome - O60931 - - - SwissProt - O60931 - - - - - 17p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 411634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411634 - Juvenile nephropathic cystinosis - - Clinical subtype - - - Subtype of disorder - - - - 20301574[PMID] - - cystinosin, lysosomal cystine transporter - CTNS - - CTNS-LSB - PQLC4 - SLC66A4 - - - gene with protein product - - - - IUPHAR - 3163 - - - ClinVar - CTNS - - - Ensembl - ENSG00000040531 - - - Genatlas - CTNS - - - HGNC - 2518 - - - OMIM - 606272 - - - Reactome - O60931 - - - SwissProt - O60931 - - - - - 17p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 371428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371428 - Multicentric osteolysis-nodulosis-arthropathy spectrum - - Disease - - - Disorder - - - - 22922033[PMID] - - matrix metallopeptidase 2 - MMP2 - - TBE-1 - - - gene with protein product - - - - HGNC - 7166 - - - IUPHAR - 1629 - - - OMIM - 120360 - - - Reactome - P08253 - - - SwissProt - P08253 - - - Ensembl - ENSG00000087245 - - - Genatlas - MMP2 - - - ClinVar - MMP2 - - - - - 16q12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22922033[PMID] - - matrix metallopeptidase 14 - MMP14 - - MT1-MMP - membrane type 1 metalloprotease - membrane type 1-matrix metalloproteinase - - - gene with protein product - - - - HGNC - 7160 - - - IUPHAR - 1638 - - - OMIM - 600754 - - - Reactome - P50281 - - - SwissProt - P50281 - - - Ensembl - ENSG00000157227 - - - Genatlas - MMP14 - - - ClinVar - MMP14 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 391677 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391677 - Short stature-optic atrophy-Pelger-Huët anomaly syndrome - - Malformation syndrome - - - Disorder - - - - 20577004[PMID] - - NBAS subunit of NRZ tethering complex - NBAS - - NAG - - - gene with protein product - - - - Reactome - A2RRP1 - - - ClinVar - NBAS - - - HGNC - 15625 - - - OMIM - 608025 - - - SwissProt - A2RRP1 - - - Ensembl - ENSG00000151779 - - - Genatlas - NBAS - - - - - 2p24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 391474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391474 - Frontorhiny - - Malformation syndrome - - - Disorder - - - - 19409524[PMID] - - ALX homeobox 3 - ALX3 - - - - gene with protein product - - - - ClinVar - ALX3 - - - Ensembl - ENSG00000156150 - - - Genatlas - ALX3 - - - HGNC - 449 - - - OMIM - 606014 - - - SwissProt - O95076 - - - - - 1p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 391490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391490 - Adult-onset myasthenia gravis - - Clinical subtype - - - Subtype of disorder - - - - 25643325[PMID] - - TNF receptor superfamily member 11a - TNFRSF11A - - CD265 - FEO - RANK - osteoclast differentiation factor receptor - ODFR - receptor activator of nuclear factor kappa B - TRANCE-R - TRANCE receptor - familial expansile osteolysis - - - gene with protein product - - - - IUPHAR - 1881 - - - Ensembl - ENSG00000141655 - - - Genatlas - TNFRSF11A - - - HGNC - 11908 - - - OMIM - 603499 - - - Reactome - Q9Y6Q6 - - - SwissProt - Q9Y6Q6 - - - ClinVar - TNFRSF11A - - - - - 18q21.33 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 25643325[PMID] - - cytotoxic T-lymphocyte associated protein 4 - CTLA4 - - CD - CD152 - GSE - gluten-sensitive enteropathy - celiac disease - CTLA-4 - - - gene with protein product - - - - IUPHAR - 2743 - - - ClinVar - CTLA4 - - - Ensembl - ENSG00000163599 - - - Genatlas - CTLA4 - - - HGNC - 2505 - - - OMIM - 123890 - - - Reactome - P16410 - - - SwissProt - P16410 - - - - - 2q33.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 25643325[PMID] - - major histocompatibility complex, class II, DQ alpha 1 - HLA-DQA1 - - CELIAC1 - - - gene with protein product - - - - OMIM - 146880 - - - Reactome - P01909 - - - SwissProt - P01909 - - - Ensembl - ENSG00000196735 - - - Genatlas - HLA-DQA1 - - - HGNC - 4942 - - - ClinVar - HLA-DQA1 - - - - - 6p21.32 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 391487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391487 - STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome - - Disease - - - Disorder - - - - 23534974[PMID] - - signal transducer and activator of transcription 1 - STAT1 - - ISGF-3 - STAT91 - transcription factor ISGF-3 components p91/p84 - - - gene with protein product - - - - Ensembl - ENSG00000115415 - - - Genatlas - STAT1 - - - HGNC - 11362 - - - OMIM - 600555 - - - Reactome - P42224 - - - SwissProt - P42224 - - - ClinVar - STAT1 - - - - - 2q32.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 391646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391646 - Feingold syndrome type 2 - - Clinical subtype - - - Subtype of disorder - - - - 21892160[PMID] - - miR-17-92a-1 cluster host gene - MIR17HG - - FLJ14178 - LINC00048 - MIHG1 - MIRH1 - NCRNA00048 - long intergenic non-protein coding RNA 48 - miR-17-92 - non-protein coding RNA 48 - - - Non-coding RNA - - - - Ensembl - ENSG00000215417 - - - Genatlas - MIR17HG - - - HGNC - 23564 - - - OMIM - 609415 - - - SwissProt - Q75NE6 - - - ClinVar - MIR17HG - - - - - 13q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 391641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391641 - Feingold syndrome type 1 - - Clinical subtype - - - Subtype of disorder - - - - 18470948[PMID]_15821734[PMID]_20301770[PMID] - - MYCN proto-oncogene, bHLH transcription factor - MYCN - - MYCNOT - N-myc - bHLHe37 - - - gene with protein product - - - - Reactome - P04198 - - - ClinVar - MYCN - - - OMIM - 164840 - - - SwissProt - P04198 - - - Ensembl - ENSG00000134323 - - - Genatlas - MYCN - - - HGNC - 7559 - - - - - 2p24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 391665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391665 - Homozygous familial hypercholesterolemia - - Disease - - - Disorder - - - - 20172523[PMID] - - ATP binding cassette subfamily G member 5 - ABCG5 - - STSL - sterolin 1 - - - gene with protein product - - - - IUPHAR - 794 - - - ClinVar - ABCG5 - - - Genatlas - ABCG5 - - - HGNC - 13886 - - - OMIM - 605459 - - - Reactome - Q9H222 - - - SwissProt - Q9H222 - - - Ensembl - ENSG00000138075 - - - - - 2p21 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 20172523[PMID] - - ATP binding cassette subfamily G member 8 - ABCG8 - - GBD4 - gallbladder disease 4 - sterolin 2 - - - gene with protein product - - - - IUPHAR - 795 - - - ClinVar - ABCG8 - - - Ensembl - ENSG00000143921 - - - Genatlas - ABCG8 - - - HGNC - 13887 - - - OMIM - 605460 - - - Reactome - Q9H221 - - - SwissProt - Q9H221 - - - - - 2p21 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 24404629[PMID] - - apolipoprotein B - APOB - - ApoB-100 - - - gene with protein product - - - - Ensembl - ENSG00000084674 - - - Genatlas - APOB - - - HGNC - 603 - - - OMIM - 107730 - - - Reactome - P04114 - - - SwissProt - P04114 - - - ClinVar - APOB - - - - - 2p24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11326085[PMID] - - low density lipoprotein receptor adaptor protein 1 - LDLRAP1 - - MGC34705 - ARH - ARH2 - DKFZp586D0624 - FHCB1 - FHCB2 - autosomal recessive hypercholesterolemia - - - gene with protein product - - - - ClinVar - LDLRAP1 - - - OMIM - 605747 - - - Reactome - Q5SW96 - - - SwissProt - Q5SW96 - - - Ensembl - ENSG00000157978 - - - Genatlas - LDLRAP1 - - - HGNC - 18640 - - - - - 1p36.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24404629[PMID] - - proprotein convertase subtilisin/kexin type 9 - PCSK9 - - FH3 - NARC-1 - - - gene with protein product - - - - Ensembl - ENSG00000169174 - - - Genatlas - PCSK9 - - - HGNC - 20001 - - - IUPHAR - 2388 - - - OMIM - 607786 - - - SwissProt - Q8NBP7 - - - Reactome - Q8NBP7 - - - ClinVar - PCSK9 - - - - - 1p32.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24404629[PMID] - - low density lipoprotein receptor - LDLR - - LDLCQ2 - familial hypercholesterolemia - - - gene with protein product - - - - ClinVar - LDLR - - - Ensembl - ENSG00000130164 - - - Genatlas - LDLR - - - HGNC - 6547 - - - OMIM - 606945 - - - Reactome - P01130 - - - SwissProt - P01130 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 391343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391343 - Fatal post-viral neurodegenerative disorder - - Disease - - - Disorder - - - - 23443029[PMID] - - perforin 1 - PRF1 - - HPLH2 - P1 - PFP - Perforin - perforin 1 (preforming protein) - - - gene with protein product - - - - IUPHAR - 3100 - - - Ensembl - ENSG00000180644 - - - Genatlas - PRF1 - - - HGNC - 9360 - - - OMIM - 170280 - - - SwissProt - P14222 - - - ClinVar - PRF1 - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 391348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391348 - Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome - - Disease - - - Disorder - - - - 24119684[PMID] - - sideroflexin 4 - SFXN4 - - SLC56A4 - - - gene with protein product - - - - Ensembl - ENSG00000183605 - - - Genatlas - SFXN4 - - - HGNC - 16088 - - - OMIM - 615564 - - - SwissProt - Q6P4A7 - - - ClinVar - SFXN4 - - - - - 10q26.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 391351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391351 - SURF1-related Charcot-Marie-Tooth disease type 4 - - Disease - - - Disorder - - - - 24027061[PMID] - - SURF1 cytochrome c oxidase assembly factor - SURF1 - - surfeit locus protein 1 - SHY1 - - - gene with protein product - - - - Ensembl - ENSG00000148290 - - - Genatlas - SURF1 - - - HGNC - 11474 - - - OMIM - 185620 - - - Reactome - Q15526 - - - SwissProt - Q15526 - - - ClinVar - SURF1 - - - - - 9q34.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 391366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391366 - Growth retardation-mild developmental delay-chronic hepatitis syndrome - - Disease - - - Disorder - - - - 23908464[PMID] - - SH2B adaptor protein 3 - SH2B3 - - IDDM20 - LNK - lymphocyte adaptor protein - - - gene with protein product - - - - ClinVar - SH2B3 - - - Ensembl - ENSG00000111252 - - - Genatlas - SH2B3 - - - HGNC - 29605 - - - OMIM - 605093 - - - Reactome - Q9UQQ2 - - - SwissProt - Q9UQQ2 - - - - - 12q24.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 391372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391372 - FOXP1 Syndrome - - Malformation syndrome - - - Disorder - - - - 24214399[PMID] - - forkhead box P1 - FOXP1 - - 12CC4 - HSPC215 - PAX5/FOXP1 fusion protein - QRF1 - fork head-related protein like B - glutamine-rich factor 1 - hFKH1B - - - gene with protein product - - - - ClinVar - FOXP1 - - - Reactome - Q9H334 - - - Ensembl - ENSG00000114861 - - - Genatlas - FOXP1 - - - HGNC - 3823 - - - OMIM - 605515 - - - SwissProt - Q9H334 - - - - - 3p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 391376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391376 - Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome - - Disease - - - Disorder - - - - 24139043[PMID] - - asparagine synthetase (glutamine-hydrolyzing) - ASNS - - - - gene with protein product - - - - ClinVar - ASNS - - - Ensembl - ENSG00000070669 - - - Genatlas - ASNS - - - HGNC - 753 - - - OMIM - 108370 - - - Reactome - P08243 - - - SwissProt - P08243 - - - - - 7q21.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 391389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391389 - Familial episodic pain syndrome with predominantly upper body involvement - - Clinical subtype - - - Subtype of disorder - - - - 20547126[PMID] - - transient receptor potential cation channel subfamily A member 1 - TRPA1 - - - - gene with protein product - - - - ClinVar - TRPA1 - - - SwissProt - O75762 - - - Ensembl - ENSG00000104321 - - - Genatlas - TRPA1 - - - HGNC - 497 - - - IUPHAR - 485 - - - OMIM - 604775 - - - Reactome - O75762 - - - - - 8q21.11 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 391392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391392 - Familial episodic pain syndrome with predominantly lower limb involvement - - Clinical subtype - - - Subtype of disorder - - - - 24207120[PMID] - - sodium voltage-gated channel alpha subunit 11 - SCN11A - - NaN - Nav1.9 - SNS-2 - - - gene with protein product - - - - Ensembl - ENSG00000168356 - - - Genatlas - SCN11A - - - HGNC - 10583 - - - IUPHAR - 586 - - - OMIM - 604385 - - - Reactome - Q9UI33 - - - SwissProt - Q9UI33 - - - ClinVar - SCN11A - - - - - 3p22.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 391397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391397 - Hereditary sensory and autonomic neuropathy type 7 - - Disease - - - Disorder - - - - 24036948[PMID] - - sodium voltage-gated channel alpha subunit 11 - SCN11A - - NaN - Nav1.9 - SNS-2 - - - gene with protein product - - - - Ensembl - ENSG00000168356 - - - Genatlas - SCN11A - - - HGNC - 10583 - - - IUPHAR - 586 - - - OMIM - 604385 - - - Reactome - Q9UI33 - - - SwissProt - Q9UI33 - - - ClinVar - SCN11A - - - - - 3p22.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 391408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391408 - Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome - - Disease - - - Disorder - - - - 26159176[PMID]_26307080[PMID] - - protein phosphatase 1 regulatory subunit 15B - PPP1R15B - - FLJ14744 - - - gene with protein product - - - - Reactome - Q5SWA1 - - - ClinVar - PPP1R15B - - - HGNC - 14951 - - - OMIM - 613257 - - - Genatlas - PPP1R15B - - - SwissProt - Q5SWA1 - - - Ensembl - ENSG00000158615 - - - - - 1q32.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24204302[PMID] - - tRNA methyltransferase 10A - TRMT10A - - MGC27034 - TRM10 - - - gene with protein product - - - - ClinVar - TRMT10A - - - Ensembl - ENSG00000145331 - - - Genatlas - TRMT10A - - - HGNC - 28403 - - - OMIM - 616013 - - - Reactome - Q8TBZ6 - - - SwissProt - Q8TBZ6 - - - - - 4q23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 391411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391411 - Atypical juvenile parkinsonism - - Disease - - - Disorder - - - - 26864383[PMID] - - podocalyxin like - PODXL - - Gp200 - PC - PCLP - PODXL1 - gp135 - PDX - - - gene with protein product - - - - HGNC - 9171 - - - OMIM - 602632 - - - Reactome - O00592 - - - ClinVar - PODXL - - - Genatlas - PODXL - - - SwissProt - O00592 - - - Ensembl - ENSG00000128567 - - - - - 7q32.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22563501[PMID]_23211418[PMID] - - DnaJ heat shock protein family (Hsp40) member C6 - DNAJC6 - - KIAA0473 - PARK19 - auxilin - - - gene with protein product - - - - ClinVar - DNAJC6 - - - Ensembl - ENSG00000116675 - - - Genatlas - DNAJC6 - - - HGNC - 15469 - - - OMIM - 608375 - - - Reactome - O75061 - - - SwissProt - O75061 - - - - - 1p31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23804563[PMID]_23804577[PMID] - - synaptojanin 1 - SYNJ1 - - INPP5G - PARK20 - inositol polyphosphate-5-phosphatase G - phosphoinositide 5-phosphatase - synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1 - - - gene with protein product - - - - ClinVar - SYNJ1 - - - IUPHAR - 1461 - - - Ensembl - ENSG00000159082 - - - Genatlas - SYNJ1 - - - HGNC - 11503 - - - OMIM - 604297 - - - Reactome - O43426 - - - SwissProt - O43426 - - - - - 21q22.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 391428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391428 - HSD10 disease, infantile type - - Clinical subtype - - - Subtype of disorder - - - - 22127393[PMID] - - hydroxysteroid 17-beta dehydrogenase 10 - HSD17B10 - - 17b-HSD10 - AB-binding alcohol dehydrogenase - ABAD - CAMR - ERAB - MHBD - MRPP2 - SDR5C1 - mitochondrial RNase P subunit 2 - short chain dehydrogenase/reductase family 5C, member 1 - type 10 17b-HSD - type 10 17beta-hydroxysteroid dehydrogenase - - - gene with protein product - - - - Ensembl - ENSG00000072506 - - - Genatlas - HSD17B10 - - - HGNC - 4800 - - - OMIM - 300256 - - - Reactome - Q99714 - - - SwissProt - Q99714 - - - ClinVar - HSD17B10 - - - - - Xp11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 391457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391457 - HSD10 disease, neonatal type - - Clinical subtype - - - Subtype of disorder - - - - 22127393[PMID] - - hydroxysteroid 17-beta dehydrogenase 10 - HSD17B10 - - 17b-HSD10 - AB-binding alcohol dehydrogenase - ABAD - CAMR - ERAB - MHBD - MRPP2 - SDR5C1 - mitochondrial RNase P subunit 2 - short chain dehydrogenase/reductase family 5C, member 1 - type 10 17b-HSD - type 10 17beta-hydroxysteroid dehydrogenase - - - gene with protein product - - - - Ensembl - ENSG00000072506 - - - Genatlas - HSD17B10 - - - HGNC - 4800 - - - OMIM - 300256 - - - Reactome - Q99714 - - - SwissProt - Q99714 - - - ClinVar - HSD17B10 - - - - - Xp11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 391307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391307 - Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - 23956177[PMID] - - TELO2 interacting protein 2 - TTI2 - - FLJ23263 - - - gene with protein product - - - - Ensembl - ENSG00000129696 - - - Genatlas - TTI2 - - - HGNC - 26262 - - - OMIM - 614426 - - - SwissProt - Q6NXR4 - - - ClinVar - TTI2 - - - - - 8p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 391316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391316 - Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression - - Disease - - - Disorder - - - - 23686771[PMID] - - tyrosine kinase non receptor 2 - TNK2 - - ACK - ACK1 - activated Cdc42-associated kinase 1 - p21cdc42Hs - - - gene with protein product - - - - Reactome - Q07912 - - - Ensembl - ENSG00000061938 - - - Genatlas - TNK2 - - - HGNC - 19297 - - - IUPHAR - 2246 - - - OMIM - 606994 - - - SwissProt - Q07912 - - - ClinVar - TNK2 - - - - - 3q29 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 391311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391311 - Susceptibility to viral and mycobacterial infections due to STAT1 deficiency - - Disease - - - Disorder - - - - 23403048[PMID]_23534974[PMID]_23541320[PMID] - - signal transducer and activator of transcription 1 - STAT1 - - ISGF-3 - STAT91 - transcription factor ISGF-3 components p91/p84 - - - gene with protein product - - - - Ensembl - ENSG00000115415 - - - Genatlas - STAT1 - - - HGNC - 11362 - - - OMIM - 600555 - - - Reactome - P42224 - - - SwissProt - P42224 - - - ClinVar - STAT1 - - - - - 2q32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 391320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391320 - East Texas bleeding disorder - - Etiological subtype - - - Subtype of disorder - - - - 23979162[PMID] - - coagulation factor V - F5 - - - - gene with protein product - - - - ClinVar - F5 - - - Ensembl - ENSG00000198734 - - - Genatlas - F5 - - - HGNC - 3542 - - - IUPHAR - 2606 - - - OMIM - 612309 - - - Reactome - P12259 - - - SwissProt - P12259 - - - - - 1q24.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 391330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391330 - X-linked osteoporosis with fractures - - Disease - - - Disorder - - - - 24088043[PMID] - - plastin 3 - PLS3 - - T-plastin - - - gene with protein product - - - - Ensembl - ENSG00000102024 - - - Genatlas - PLS3 - - - HGNC - 9091 - - - OMIM - 300131 - - - SwissProt - P13797 - - - ClinVar - PLS3 - - - - - Xq23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 397968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397968 - Charcot-Marie-Tooth disease type 2R - - Disease - - - Disorder - - - - 23562820[PMID] - - tripartite motif containing 2 - TRIM2 - - CMT2R - KIAA0517 - RNF86 - RING finger protein 86 - Charcot-Marie-Tooth disease, type 2R - - - gene with protein product - - - - HGNC - 15974 - - - OMIM - 614141 - - - Reactome - Q9C040 - - - SwissProt - Q9C040 - - - Ensembl - ENSG00000109654 - - - Genatlas - TRIM2 - - - ClinVar - TRIM2 - - - - - 4q31.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 397964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397964 - Combined immunodeficiency due to MALT1 deficiency - - Disease - - - Disorder - - - - 23727036[PMID]_24332264[PMID] - - MALT1 paracaspase - MALT1 - - MALT1 protease - PCASP1 - paracaspase 1 - - - gene with protein product - - - - Ensembl - ENSG00000172175 - - - Genatlas - MALT1 - - - HGNC - 6819 - - - OMIM - 604860 - - - Reactome - Q9UDY8 - - - SwissProt - Q9UDY8 - - - ClinVar - MALT1 - - - IUPHAR - 2983 - - - - - 18q21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 397959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397959 - TCR-alpha-beta-positive T-cell deficiency - - Disease - - - Disorder - - - - 21206088[PMID] - - T-cell receptor alpha constant - TRAC - - - - gene with protein product - - - - Ensembl - ENSG00000277734 - - - Genatlas - TRAC - - - HGNC - 12029 - - - OMIM - 186880 - - - Reactome - P01848 - - - SwissProt - P01848 - - - ClinVar - TRAC - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 397951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397951 - Microcephaly-thin corpus callosum-intellectual disability syndrome - - Disease - - - Disorder - - - - 24084144[PMID] - - TATA-box binding protein associated factor 2 - TAF2 - - CIF150 - TAFII150 - - - gene with protein product - - - - HGNC - 11536 - - - OMIM - 604912 - - - Reactome - Q6P1X5 - - - SwissProt - Q6P1X5 - - - ClinVar - TAF2 - - - Ensembl - ENSG00000064313 - - - Genatlas - TAF2 - - - - - 8q24.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 397946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397946 - Autosomal spastic paraplegia type 58 - - Disease - - - Disorder - - - - 24319291[PMID]_24482476[PMID] - - kinesin family member 1C - KIF1C - - SPAX2 - SPG58 - - - gene with protein product - - - - Reactome - O43896 - - - Ensembl - ENSG00000129250 - - - Genatlas - KIF1C - - - HGNC - 6317 - - - OMIM - 603060 - - - SwissProt - O43896 - - - ClinVar - KIF1C - - - - - 17p13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 397941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397941 - MAN1B1-CDG - - Disease - - - Disorder - - - - 24348268[PMID] - - mannosidase alpha class 1B member 1 - MAN1B1 - - endoplasmic Reticulum Class I alpha-mannosidase - ERMan1 - Alpha 1,2-mannosidase - ER alpha 1,2-mannosidase - ERManI - Endoplasmic reticulum alpha-mannosidase 1 - Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1 - MANA-ER - MRT15 - Man9GlcNAc2-specific processing alpha-mannosidase - alpha 1,2-mannosidase - endoplasmic reticulum alpha-mannosidase 1 - endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1 - - - gene with protein product - - - - Ensembl - ENSG00000177239 - - - Genatlas - MAN1B1 - - - HGNC - 6823 - - - OMIM - 604346 - - - Reactome - Q9UKM7 - - - SwissProt - Q9UKM7 - - - ClinVar - MAN1B1 - - - - - 9q34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 397937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397937 - Polyglucosan body myopathy type 1 - - Disease - - - Disorder - - - - 23798481[PMID]_23674175[PMID] - - RANBP2-type and C3HC4-type zinc finger containing 1 - RBCK1 - - HOIL1 - RBCK2 - RNF54 - UBCE7IP3 - XAP4 - ZRANB4 - heme-oxidized IRP2 ubiquitin ligase 1 - - - gene with protein product - - - - ClinVar - RBCK1 - - - Ensembl - ENSG00000125826 - - - Genatlas - RBCK1 - - - HGNC - 15864 - - - OMIM - 610924 - - - Reactome - Q9BYM8 - - - SwissProt - Q9BYM8 - - - - - 20p13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 397933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397933 - Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome - - Disease - - - Disorder - - - - 23674175[PMID] - - IQ motif and Sec7 domain ArfGEF 2 - IQSEC2 - - brefeldin A resistant Arf-guanine nucleotide exchange factor 1 - KIAA0522 - BRAG1 - IQ-ArfGEF - - - gene with protein product - - - - Ensembl - ENSG00000124313 - - - Genatlas - IQSEC2 - - - HGNC - 29059 - - - OMIM - 300522 - - - SwissProt - Q5JU85 - - - ClinVar - IQSEC2 - - - - - Xp11.22 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 397927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397927 - Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome - - Malformation syndrome - - - Disorder - - - - 24253444[PMID] - - T-box transcription factor T - TBXT - - - - gene with protein product - - - - IUPHAR - 3304 - - - Ensembl - ENSG00000164458 - - - Genatlas - T - - - HGNC - 11515 - - - OMIM - 601397 - - - SwissProt - O15178 - - - ClinVar - T - - - - - 6q27 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 397922 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397922 - Ferro-cerebro-cutaneous syndrome - - Disease - - - Disorder - - - - 24259288[PMID] - - phosphatidylinositol glycan anchor biosynthesis class A - PIGA - - GPI3 (SPT14) homolog (S. cerevisiae) - PIG-A - Phosphatidylinositol N-acetylglucosaminyltransferase subunit A - GPI3 - paroxysmal nocturnal hemoglobinuria - - - gene with protein product - - - - Ensembl - ENSG00000165195 - - - Genatlas - PIGA - - - HGNC - 8957 - - - OMIM - 311770 - - - Reactome - P37287 - - - SwissProt - P37287 - - - ClinVar - PIGA - - - - - Xp22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 397787 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397787 - Combined immunodeficiency due to IKBKB deficiency - - Disease - - - Disorder - - - - 24369075[PMID] - - inhibitor of nuclear factor kappa B kinase subunit beta - IKBKB - - IKK-beta - IKK2 - IKKB - NFKBIKB - - - gene with protein product - - - - ClinVar - IKBKB - - - Ensembl - ENSG00000104365 - - - Genatlas - IKBKB - - - HGNC - 5960 - - - IUPHAR - 2039 - - - OMIM - 603258 - - - Reactome - O14920 - - - SwissProt - O14920 - - - - - 8p11.21 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 397755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397755 - Periodic paralysis with transient compartment-like syndrome - - Disease - - - Disorder - - - - 24240197[PMID] - - calcium voltage-gated channel subunit alpha1 S - CACNA1S - - Cav1.1 - hypoPP - - - gene with protein product - - - - Ensembl - ENSG00000081248 - - - Genatlas - CACNA1S - - - HGNC - 1397 - - - IUPHAR - 528 - - - OMIM - 114208 - - - Reactome - Q13698 - - - SwissProt - Q13698 - - - ClinVar - CACNA1S - - - - - 1q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 397758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397758 - Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies - - Disease - - - Disorder - - - - 24026677[PMID] - - integral membrane protein 2B - ITM2B - - BRI - BRI2 - BRICD2B - BRICHOS domain containing 2B - E25B - E3-16 - - - gene with protein product - - - - SwissProt - Q9Y287 - - - ClinVar - ITM2B - - - Ensembl - ENSG00000136156 - - - Genatlas - ITM2B - - - HGNC - 6174 - - - OMIM - 603904 - - - Reactome - Q9Y287 - - - - - 13q14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 397744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397744 - Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome - - Disease - - - Disorder - - - - 21480433[PMID] - - myosin heavy chain 14 - MYH14 - - KIAA2034 - MHC16 - MYH17 - FLJ13881 - - - gene with protein product - - - - ClinVar - MYH14 - - - Ensembl - ENSG00000105357 - - - Genatlas - MYH14 - - - HGNC - 23212 - - - OMIM - 608568 - - - Reactome - Q7Z406 - - - SwissProt - Q7Z406 - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 397750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397750 - Periodic paralysis with later-onset distal motor neuropathy - - Disease - - - Disorder - - - - 24153443[PMID] - - mitochondrially encoded ATP synthase membrane subunit 6 - MT-ATP6 - - ATP6 - ATPase-6 - Su6m - mitochondrially encoded ATP synthase membrane subunit a - - - gene with protein product - - - - ClinVar - MT-ATP6 - - - Ensembl - ENSG00000198899 - - - Genatlas - MT-ATP6 - - - HGNC - 7414 - - - OMIM - 516060 - - - Reactome - P00846 - - - SwissProt - P00846 - - - IUPHAR - 801 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24153443[PMID] - - mitochondrially encoded ATP synthase membrane subunit 8 - MT-ATP8 - - mitochondrially encoded ATP synthase membrane subunit A6L - A6L - ATP8 - URFA6L - - - gene with protein product - - - - IUPHAR - 809 - - - Genatlas - MT-ATP8 - - - HGNC - 7415 - - - OMIM - 516070 - - - Reactome - P03928 - - - SwissProt - P03928 - - - Ensembl - ENSG00000228253 - - - ClinVar - MT-ATP8 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 397725 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397725 - COASY protein-associated neurodegeneration - - Disease - - - Disorder - - - - 24360804[PMID] - - Coenzyme A synthase - COASY - - CoASY - DPCK - NBP - PPAT - bifunctional Coenzyme A synthase - - - gene with protein product - - - - ClinVar - COASY - - - Ensembl - ENSG00000068120 - - - Genatlas - COASY - - - HGNC - 29932 - - - OMIM - 609855 - - - Reactome - Q13057 - - - SwissProt - Q13057 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 397735 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397735 - Autosomal dominant Charcot-Marie-Tooth disease type 2U - - Disease - - - Disorder - - - - 23729695[PMID] - - methionyl-tRNA synthetase 1 - MARS1 - - CMT2U - MetRS - SPG70 - methionine tRNA ligase 1, cytoplasmic - Methionine--tRNA ligase, cytoplasmic - - - gene with protein product - - - - ClinVar - MARS - - - HGNC - 6898 - - - OMIM - 156560 - - - Reactome - P56192 - - - SwissProt - P56192 - - - Ensembl - ENSG00000166986 - - - Genatlas - MARS - - - - - 12q13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 397709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397709 - Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome - - Malformation syndrome - - - Disorder - - - - 25439728[PMID] - - sorting nexin 14 - SNX14 - - RGS-PX2 - - - gene with protein product - - - - ClinVar - SNX14 - - - Ensembl - ENSG00000135317 - - - Genatlas - SNX14 - - - HGNC - 14977 - - - OMIM - 616105 - - - SwissProt - Q9Y5W7 - - - - - 6q14.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 397715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397715 - Joubert syndrome with Jeune asphyxiating thoracic dystrophy - - Malformation syndrome - - - Disorder - - - - 24360808[PMID] - - centrosome and spindle pole associated protein 1 - CSPP1 - - CSPP - FLJ22490 - JBTS21 - CSPP-L - - - gene with protein product - - - - ClinVar - CSPP1 - - - Ensembl - ENSG00000104218 - - - Genatlas - CSPP1 - - - HGNC - 26193 - - - OMIM - 611654 - - - SwissProt - Q1MSJ5 - - - - - 8q13.1-q13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 26386044[PMID] - - KIAA0586 - KIAA0586 - - JBTS23 - Talpid3 - - - gene with protein product - - - - ClinVar - KIAA0586 - - - Ensembl - ENSG00000100578 - - - Genatlas - KIAA0586 - - - HGNC - 19960 - - - OMIM - 610178 - - - SwissProt - Q9BVV6 - - - - - 14q23.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 397692 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397692 - Hereditary isolated aplastic anemia - - Disease - - - Disorder - - - - 24085763[PMID] - - thrombopoietin - THPO - - MPL ligand - MPLLG - TPO - c-mpl ligand - megakaryocyte colony-stimulating factor - megakaryocyte growth and development factor - megakaryocyte stimulating factor - myeloproliferative leukemia virus oncogene ligand - prepro-thrombopoietin - thrombopoietin nirs - - - gene with protein product - - - - ClinVar - THPO - - - Ensembl - ENSG00000090534 - - - Genatlas - THPO - - - HGNC - 11795 - - - OMIM - 600044 - - - Reactome - P40225 - - - SwissProt - P40225 - - - - - 3q27.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22180433[PMID] - - MPL proto-oncogene, thrombopoietin receptor - MPL - - CD110 - TPOR - THPOR - - - gene with protein product - - - - ClinVar - MPL - - - Ensembl - ENSG00000117400 - - - Genatlas - MPL - - - HGNC - 7217 - - - IUPHAR - 1722 - - - OMIM - 159530 - - - Reactome - P40238 - - - SwissProt - P40238 - - - - - 1p34.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25205116[PMID] - - ACD shelterin complex subunit and telomerase recruitment factor - ACD - - POT1 and TIN2 organizing protein - Pip1 - Ptop - TIN2 interacting protein 1 - Tint1 - Tpp1 - - - gene with protein product - - - - ClinVar - ACD - - - Ensembl - ENSG00000102977 - - - Genatlas - ACD - - - HGNC - 25070 - - - OMIM - 609377 - - - Reactome - Q96AP0 - - - SwissProt - Q96AP0 - - - - - 16q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 397623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397623 - Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome - - Malformation syndrome - - - Disorder - - - - 24290375[PMID] - - goosecoid homeobox - GSC - - GSC1 - - - gene with protein product - - - - ClinVar - GSC - - - HGNC - 4612 - - - OMIM - 138890 - - - SwissProt - P56915 - - - Ensembl - ENSG00000133937 - - - Genatlas - GSC - - - - - 14q32.13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 397685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397685 - Familial hyperprolactinemia - - Disease - - - Disorder - - - - 24195502[PMID] - - prolactin receptor - PRLR - - - - gene with protein product - - - - IUPHAR - 1721 - - - ClinVar - PRLR - - - Ensembl - ENSG00000113494 - - - Genatlas - PRLR - - - HGNC - 9446 - - - OMIM - 176761 - - - Reactome - P16471 - - - SwissProt - P16471 - - - - - 5p13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 397615 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397615 - Obesity due to CEP19 deficiency - - Etiological subtype - - - Subtype of disorder - - - - 24268657[PMID] - - centrosomal protein 19 - CEP19 - - MGC14126 - - - gene with protein product - - - - Reactome - Q96LK0 - - - Ensembl - ENSG00000174007 - - - Genatlas - CEP19 - - - HGNC - 28209 - - - OMIM - 615586 - - - SwissProt - Q96LK0 - - - ClinVar - CEP19 - - - - - 3q29 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 397618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397618 - Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome - - Disease - - - Disorder - - - - 24290379[PMID] - - solute carrier family 38 member 8 - SLC38A8 - - Putative sodium-coupled neutral amino acid transporter 8 - SNAT8 - - - gene with protein product - - - - IUPHAR - 1176 - - - Ensembl - ENSG00000166558 - - - Genatlas - SLC38A8 - - - HGNC - 32434 - - - OMIM - 615585 - - - SwissProt - A6NNN8 - - - ClinVar - SLC38A8 - - - - - 16q23.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 397593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397593 - Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency - - Disease - - - Disorder - - - - 23814038[PMID] - - LYR motif containing 4 - LYRM4 - - CGI-203 - ISD11 - - - gene with protein product - - - - Ensembl - ENSG00000214113 - - - Genatlas - LYRM4 - - - HGNC - 21365 - - - OMIM - 613311 - - - Reactome - Q9HD34 - - - SwissProt - Q9HD34 - - - ClinVar - LYRM4 - - - - - 6p25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24498631[PMID] - - NFS1 cysteine desulfurase - NFS1 - - IscS - NifS - - - gene with protein product - - - - Ensembl - ENSG00000244005 - - - Genatlas - NFS1 - - - HGNC - 15910 - - - OMIM - 603485 - - - Reactome - Q9Y697 - - - SwissProt - Q9Y697 - - - ClinVar - NFS1 - - - - - 20q11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 397612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397612 - Macrocephaly-developmental delay syndrome - - Malformation syndrome - - - Disorder - - - - 24239382[PMID] - - kaptin, actin binding protein - KPTN - - 2E4 - KICS4 - - - gene with protein product - - - - Ensembl - ENSG00000118162 - - - Genatlas - KPTN - - - HGNC - 6404 - - - OMIM - 615620 - - - SwissProt - Q9Y664 - - - ClinVar - KPTN - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 397606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397606 - PrP systemic amyloidosis - - Disease - - - Disorder - - - - 24224623[PMID] - - prion protein (Kanno blood group) - PRNP - - AltPrP - CD230 - Creutzfeldt-Jakob disease - Gerstmann-Strausler-Scheinker syndrome - PRP - fatal familial insomnia - p27-30 - - - gene with protein product - - - - ClinVar - PRNP - - - Ensembl - ENSG00000171867 - - - Genatlas - PRNP - - - HGNC - 9449 - - - OMIM - 176640 - - - Reactome - P04156 - - - SwissProt - P04156 - - - - - 20p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 397590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397590 - Silver-Russell syndrome due to a point mutation - - Etiological subtype - - - Subtype of disorder - - - - 26154720[PMID] - - insulin like growth factor 2 - IGF2 - - FLJ44734 - IGF-II - preptin - somatomedin A - - - gene with protein product - - - - Ensembl - ENSG00000167244 - - - Genatlas - IGF2 - - - HGNC - 5466 - - - OMIM - 147470 - - - Reactome - P01344 - - - SwissProt - P01344 - - - ClinVar - IGF2 - - - - - 11p15.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24065356[PMID] - - cyclin dependent kinase inhibitor 1C - CDKN1C - - KIP2 - P57 - - - gene with protein product - - - - Ensembl - ENSG00000129757 - - - Genatlas - CDKN1C - - - HGNC - 1786 - - - OMIM - 600856 - - - SwissProt - P49918 - - - Reactome - P49918 - - - ClinVar - CDKN1C - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 29655892[PMID] - - high mobility group AT-hook 2 - HMGA2 - - BABL - LIPO - - - gene with protein product - - - - Genatlas - HMGA2 - - - HGNC - 5009 - - - OMIM - 600698 - - - Reactome - P52926 - - - SwissProt - P52926 - - - Ensembl - ENSG00000149948 - - - ClinVar - HMGA2 - - - - - 12q14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28796236[PMID] - - PLAG1 zinc finger - PLAG1 - - ZNF912 - - - gene with protein product - - - - OMIM - 603026 - - - Genatlas - PLAG1 - - - SwissProt - Q6DJT9 - - - Ensembl - ENSG00000181690 - - - ClinVar - PLAG1 - - - HGNC - 9045 - - - - - 8q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 394532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394532 - Multiple acyl-CoA dehydrogenase deficiency, mild type - - Clinical subtype - - - Subtype of disorder - - - - 28443623[PMID]_26933868[PMID] - - solute carrier family 25 member 32 - SLC25A32 - - MFTC - - - gene with protein product - - - - Genatlas - SLC25A32 - - - IUPHAR - 1083 - - - SwissProt - Q9H2D1 - - - OMIM - 138480 - - - Ensembl - ENSG00000164933 - - - Reactome - Q9H2D1 - - - ClinVar - SLC25A32 - - - HGNC - 29683 - - - - - 8q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28433476[PMID] - - flavin adenine dinucleotide synthetase 1 - FLAD1 - - PP591 - FAD1 - FAD-adenylyl transferase - - - gene with protein product - - - - Genatlas - FLAD1 - - - Reactome - Q8NFF5 - - - SwissProt - Q8NFF5 - - - OMIM - 610595 - - - Ensembl - ENSG00000160688 - - - HGNC - 24671 - - - ClinVar - FLAD1 - - - - - 1q21.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - electron transfer flavoprotein subunit alpha - ETFA - - EMA - GA2 - MADD - glutaric aciduria II - multiple acyl-CoA dehydrogenase deficiency - - - gene with protein product - - - - Ensembl - ENSG00000140374 - - - Genatlas - ETFA - - - HGNC - 3481 - - - OMIM - 608053 - - - Reactome - P13804 - - - SwissProt - P13804 - - - ClinVar - ETFA - - - - - 15q24.2-q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - electron transfer flavoprotein subunit beta - ETFB - - - - gene with protein product - - - - Genatlas - ETFB - - - HGNC - 3482 - - - OMIM - 130410 - - - Reactome - P38117 - - - SwissProt - P38117 - - - Ensembl - ENSG00000105379 - - - ClinVar - ETFB - - - - - 19q13.41 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - electron transfer flavoprotein dehydrogenase - ETFDH - - ETFQO - - - gene with protein product - - - - ClinVar - ETFDH - - - Ensembl - ENSG00000171503 - - - Genatlas - ETFDH - - - HGNC - 3483 - - - OMIM - 231675 - - - Reactome - Q16134 - - - SwissProt - Q16134 - - - - - 4q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 394529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394529 - Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type - - Clinical subtype - - - Subtype of disorder - - - - - - electron transfer flavoprotein subunit alpha - ETFA - - EMA - GA2 - MADD - glutaric aciduria II - multiple acyl-CoA dehydrogenase deficiency - - - gene with protein product - - - - Ensembl - ENSG00000140374 - - - Genatlas - ETFA - - - HGNC - 3481 - - - OMIM - 608053 - - - Reactome - P13804 - - - SwissProt - P13804 - - - ClinVar - ETFA - - - - - 15q24.2-q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - electron transfer flavoprotein subunit beta - ETFB - - - - gene with protein product - - - - Genatlas - ETFB - - - HGNC - 3482 - - - OMIM - 130410 - - - Reactome - P38117 - - - SwissProt - P38117 - - - Ensembl - ENSG00000105379 - - - ClinVar - ETFB - - - - - 19q13.41 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - electron transfer flavoprotein dehydrogenase - ETFDH - - ETFQO - - - gene with protein product - - - - ClinVar - ETFDH - - - Ensembl - ENSG00000171503 - - - Genatlas - ETFDH - - - HGNC - 3483 - - - OMIM - 231675 - - - Reactome - Q16134 - - - SwissProt - Q16134 - - - - - 4q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27259049[PMID] - - flavin adenine dinucleotide synthetase 1 - FLAD1 - - PP591 - FAD1 - FAD-adenylyl transferase - - - gene with protein product - - - - Genatlas - FLAD1 - - - Reactome - Q8NFF5 - - - SwissProt - Q8NFF5 - - - OMIM - 610595 - - - Ensembl - ENSG00000160688 - - - HGNC - 24671 - - - ClinVar - FLAD1 - - - - - 1q21.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 399805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399805 - Male infertility with azoospermia or oligozoospermia due to single gene mutation - - Disease - - - Disorder - - - - 28548327[PMID] - - sperm associated antigen 17 - SPAG17 - - CT143 - FLJ34497 - PF6 - RP4-776P7.2 - - - gene with protein product - - - - HGNC - 26620 - - - Ensembl - ENSG00000155761 - - - SwissProt - Q6Q759 - - - OMIM - 616554 - - - Genatlas - SPAG17 - - - ClinVar - SPAG17 - - - - - 1p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29790874[PMID] - - testis expressed 14, intercellular bridge forming factor - TEX14 - - Inactive serine/threonine-protein kinase TEX14 - SgK307 - CT113 - cancer/testis antigen 113 - - - gene with protein product - - - - HGNC - 11737 - - - Ensembl - ENSG00000121101 - - - SwissProt - Q8IWB6 - - - IUPHAR - 2241 - - - OMIM - 605792 - - - - - 17q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28536242[PMID] - - tudor domain containing 9 - TDRD9 - - DKFZp434N0820 - FLJ36164 - NET54 - - - gene with protein product - - - - Reactome - Q8NDG6 - - - Ensembl - ENSG00000156414 - - - SwissProt - Q8NDG6 - - - Genatlas - TDRD9 - - - OMIM - 617963 - - - HGNC - 20122 - - - ClinVar - TDRD9 - - - - - 14q32.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23315541[PMID] - - nanos C2HC-type zinc finger 1 - NANOS1 - - NOS1 - ZC2HC12A - - - gene with protein product - - - - ClinVar - NANOS1 - - - Ensembl - ENSG00000188613 - - - Genatlas - NANOS1 - - - HGNC - 23044 - - - OMIM - 608226 - - - SwissProt - Q8WY41 - - - - - 10q26.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30075111[PMID] - - FA complementation group M - FANCM - - FAAP250 - - - gene with protein product - - - - ClinVar - FANCM - - - Ensembl - ENSG00000187790 - - - Genatlas - FANCM - - - HGNC - 23168 - - - OMIM - 609644 - - - Reactome - Q8IYD8 - - - SwissProt - Q8IYD8 - - - - - 14q21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 29048736[PMID] - - testis expressed 15, meiosis and synapsis associated - TEX15 - - cancer/testis antigen 42 - CT42 - - - gene with protein product - - - - HGNC - 11738 - - - Ensembl - ENSG00000133863 - - - SwissProt - Q9BXT5 - - - OMIM - 605795 - - - Reactome - Q9BXT5 - - - ClinVar - TEX15 - - - Genatlas - TEX15 - - - - - 8p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 36481789[PMID] - - cancer/testis antigen 55 - CT55 - - FLJ20527 - - - gene with protein product - - - - HGNC - 26047 - - - Ensembl - ENSG00000169551 - - - OMIM - 301105 - - - SwissProt - Q8WUE5 - - - - - Xq26.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32111475[PMID] - - ribosomal protein L10 like - RPL10L - - - - gene with protein product - - - - HGNC - 17976 - - - Ensembl - ENSG00000165496 - - - OMIM - 619655 - - - SwissProt - Q96L21 - - - - - 14q21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 34413498[PMID] - - germ cell nuclear acidic peptidase - GCNA - - NAAR1 - - - gene with protein product - - - - Ensembl - ENSG00000147174 - - - OMIM - 300369 - - - SwissProt - Q96QF7 - - - HGNC - 15805 - - - - - Xq13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32503832[PMID] - - ciliogenesis associated TTC17 interacting protein - CATIP - - MGC50811 - - - gene with protein product - - - - HGNC - 25062 - - - Ensembl - ENSG00000158428 - - - OMIM - 619387 - - - SwissProt - Q7Z7H3 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31125047[PMID] - - ring finger protein 212 - RNF212 - - FLJ38841 - - - gene with protein product - - - - HGNC - 27729 - - - Ensembl - ENSG00000178222 - - - OMIM - 612041 - - - SwissProt - Q495C1 - - - - - 4p16.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32741963[PMID] - - telomere repeat binding bouquet formation protein 1 - TERB1 - - FLJ35894 - - - gene with protein product - - - - HGNC - 26675 - - - Ensembl - ENSG00000249961 - - - OMIM - 617332 - - - SwissProt - Q8NA31 - - - - - 16q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33211200[PMID] - - telomere repeat binding bouquet formation protein 2 - TERB2 - - MGC33951 - - - gene with protein product - - - - HGNC - 28520 - - - Ensembl - ENSG00000167014 - - - OMIM - 617131 - - - SwissProt - Q8NHR7 - - - - - 15q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35476666[PMID] - - Mov10 like RNA helicase 1 - MOV10L1 - - DKFZp434B0717 - CHAMP - cardiac helicase activated by MEF2C protein - DJ402G11.8 - - - gene with protein product - - - - HGNC - 7201 - - - Ensembl - ENSG00000073146 - - - OMIM - 605794 - - - SwissProt - Q9BXT6 - - - - - 22q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30878252[PMID] - - F-box protein 43 - FBXO43 - - Fbx43 - - - gene with protein product - - - - HGNC - 28521 - - - Ensembl - ENSG00000156509 - - - OMIM - 609110 - - - SwissProt - Q4G163 - - - - - 8q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32111475[PMID] - - ribosomal protein L10 like - RPL10L - - - - gene with protein product - - - - HGNC - 17976 - - - Ensembl - ENSG00000165496 - - - OMIM - 619655 - - - SwissProt - Q96L21 - - - - - 14q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32741963[PMID] - - shortage in chiasmata 1 - SHOC1 - - Zip2 - MZIP2 - FLJ32779 - Zip2 homolog (S. cerevisiae) - - - gene with protein product - - - - HGNC - 26535 - - - Ensembl - ENSG00000165181 - - - OMIM - 618038 - - - SwissProt - Q5VXU9 - - - - - 9q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34347949[PMID] - - PARN like ribonuclease domain containing exonuclease 1 - PNLDC1 - - FLJ40240 - Trimmer - dJ195P10.2 - - - gene with protein product - - - - HGNC - 21185 - - - Ensembl - ENSG00000146453 - - - OMIM - 619529 - - - SwissProt - Q8NA58 - - - - - 6q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34237282[PMID] - - dynein axonemal heavy chain 10 - DNAH10 - - FLJ43808 - - - gene with protein product - - - - Genatlas - DNAH10 - - - OMIM - 605884 - - - SwissProt - Q8IVF4 - - - Ensembl - ENSG00000197653 - - - HGNC - 2941 - - - ClinVar - DNAH10 - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31125047[PMID]_31682730[PMID] - - STAG3 cohesin complex component - STAG3 - - stromalin 3 - SA3 - Cohesin subunit SA-3 - - - gene with protein product - - - - ClinVar - STAG3 - - - Ensembl - ENSG00000066923 - - - Genatlas - STAG3 - - - HGNC - 11356 - - - OMIM - 608489 - - - Reactome - Q9UJ98 - - - SwissProt - Q9UJ98 - - - - - 7q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22709980[PMID] - - CF transmembrane conductance regulator - CFTR - - MRP7 - TNR-CFTR - dJ760C5.1 - ABC35 - ATP-binding cassette sub-family C, member 7 - CFTR/MRP - - - gene with protein product - - - - Ensembl - ENSG00000001626 - - - Genatlas - CFTR - - - HGNC - 1884 - - - IUPHAR - 707 - - - OMIM - 602421 - - - Reactome - P13569 - - - SwissProt - P13569 - - - ClinVar - CFTR - - - - - 7q31.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 20887963[PMID] - - nuclear receptor subfamily 5 group A member 1 - NR5A1 - - AD4BP - ELP - FTZ1 - SF-1 - hSF-1 - steroidogenic factor 1 - SF1 - - - gene with protein product - - - - ClinVar - NR5A1 - - - Ensembl - ENSG00000136931 - - - Genatlas - NR5A1 - - - HGNC - 7983 - - - IUPHAR - 632 - - - OMIM - 184757 - - - Reactome - Q13285 - - - SwissProt - Q13285 - - - - - 9q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24431330[PMID] - - TATA-box binding protein associated factor 4b - TAF4B - - TAFII105 - TATA box binding protein (TBP)-associated factor 4B - - - gene with protein product - - - - ClinVar - TAF4B - - - Ensembl - ENSG00000141384 - - - Genatlas - TAF4B - - - HGNC - 11538 - - - OMIM - 601689 - - - Reactome - Q92750 - - - SwissProt - Q92750 - - - - - 18q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24431330[PMID] - - zinc finger MYND-type containing 15 - ZMYND15 - - DKFZp434N127 - - - gene with protein product - - - - ClinVar - ZMYND15 - - - Ensembl - ENSG00000141497 - - - Genatlas - ZMYND15 - - - HGNC - 20997 - - - OMIM - 614312 - - - SwissProt - Q9H091 - - - - - 17p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25970010[PMID] - - testis expressed 11 - TEX11 - - TGC1 - TSGA3 - ZIP4 - MZIP4 - Spo22 - ZIP4 homolog (S. cerevisiae) - ZIP4H - - - gene with protein product - - - - ClinVar - TEX11 - - - Reactome - Q8IYF3 - - - OMIM - 300311 - - - SwissProt - Q8IYF3 - - - Ensembl - ENSG00000120498 - - - Genatlas - TEX11 - - - HGNC - 11733 - - - - - Xq13.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 14643120[PMID]_16213863[PMID] - - synaptonemal complex protein 3 - SYCP3 - - - - gene with protein product - - - - Ensembl - ENSG00000139351 - - - Genatlas - SYCP3 - - - HGNC - 18130 - - - OMIM - 604759 - - - Reactome - Q8IZU3 - - - SwissProt - Q8IZU3 - - - ClinVar - SYCP3 - - - - - 12q23.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 20506135[PMID] - - spermatogenesis and oogenesis specific basic helix-loop-helix 1 - SOHLH1 - - NOHLH - SPATA27 - TEB2 - bA100C15.3 - bHLHe80 - spermatogenesis associated 27 - - - gene with protein product - - - - Reactome - Q5JUK2 - - - Ensembl - ENSG00000165643 - - - Genatlas - SOHLH1 - - - HGNC - 27845 - - - OMIM - 610224 - - - SwissProt - Q5JUK2 - - - ClinVar - SOHLH1 - - - - - 9q34.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 30042186[PMID] - - X-ray repair cross complementing 2 - XRCC2 - - RAD51-like - FANCU - DNA repair protein XRCC2 - - - gene with protein product - - - - Genatlas - XRCC2 - - - HGNC - 12829 - - - OMIM - 600375 - - - Reactome - O43543 - - - SwissProt - O43543 - - - Ensembl - ENSG00000196584 - - - ClinVar - XRCC2 - - - - - 7q36.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25899990[PMID] - - synaptonemal complex central element protein 1 - SYCE1 - - CT76 - bA108K14.6 - cancer/testis antigen 76 - - - gene with protein product - - - - Ensembl - ENSG00000171772 - - - Genatlas - SYCE1 - - - HGNC - 28852 - - - OMIM - 611486 - - - Reactome - Q8N0S2 - - - SwissProt - Q8N0S2 - - - ClinVar - SYCE1 - - - - - 10q26.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28206990[PMID] - - meiosis specific with OB-fold - MEIOB - - MGC35212 - - - gene with protein product - - - - HGNC - 28569 - - - Ensembl - ENSG00000162039 - - - SwissProt - Q8N635 - - - OMIM - 617670 - - - Genatlas - MEIOB - - - ClinVar - MEIOB - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33508233[PMID] - - chromosome 14 open reading frame 39 - C14ORF39 - - SIX6OS1 - - - gene with protein product - - - - Ensembl - ENSG00000179008 - - - SwissProt - Q8N1H7 - - - OMIM - 617307 - - - HGNC - 19849 - - - - - 14q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17047026[PMID] - - kelch like family member 10 - KLHL10 - - FLJ32662 - - - gene with protein product - - - - Ensembl - ENSG00000161594 - - - SwissProt - Q6JEL2 - - - HGNC - 18829 - - - OMIM - 608778 - - - Genatlas - KLHL10 - - - ClinVar - KLHL10 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34348960[PMID] - - coiled-coil domain containing 34 - CCDC34 - - L15 - RAMA3 - NY-REN-41 - - - gene with protein product - - - - Ensembl - ENSG00000109881 - - - OMIM - 612324 - - - SwissProt - Q96HJ3 - - - HGNC - 25079 - - - - - 11p14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29581481[PMID] - - pyruvate dehydrogenase E1 subunit alpha 2 - PDHA2 - - - - gene with protein product - - - - HGNC - 8807 - - - Ensembl - ENSG00000163114 - - - OMIM - 179061 - - - SwissProt - P29803 - - - - - 4q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34932939[PMID] - - dynein heavy chain domain 1 - DNHD1 - - DKFZp686J0796 - FLJ32752 - FLJ35709 - FLJ46184 - - - gene with protein product - - - - HGNC - 26532 - - - Ensembl - ENSG00000179532 - - - OMIM - 617277 - - - SwissProt - Q96M86 - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34755185[PMID] - - mutS homolog 5 - MSH5 - - G7 - - - gene with protein product - - - - Ensembl - ENSG00000204410 - - - Reactome - O43196 - - - OMIM - 603382 - - - HGNC - 7328 - - - ClinVar - MSH5 - - - SwissProt - O43196 - - - Genatlas - MSH5 - - - - - 6p21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 399058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399058 - Alpha-B crystallin-related late-onset myopathy - - Disease - - - Disorder - - - - 20171888[PMID] - - crystallin alpha B - CRYAB - - HSPB5 - - - gene with protein product - - - - ClinVar - CRYAB - - - Reactome - P02511 - - - SwissProt - P02511 - - - Ensembl - ENSG00000109846 - - - Genatlas - CRYAB - - - HGNC - 2389 - - - OMIM - 123590 - - - - - 11q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 398987 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398987 - Malignant teratoma of ovary - - Disease - - - Disorder - - - - 38427603[PMID] - - bone morphogenetic protein 15 - BMP15 - - GDF9B - - - gene with protein product - - - - ClinVar - BMP15 - - - Reactome - O95972 - - - Ensembl - ENSG00000130385 - - - Genatlas - BMP15 - - - HGNC - 1068 - - - OMIM - 300247 - - - SwissProt - O95972 - - - - - Xp11.22 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 399086 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399086 - HNRNPA1-related adult-onset distal myopathy - - Disease - - - Disorder - - - - 34722876[PMID] - - heterogeneous nuclear ribonucleoprotein A1 - HNRNPA1 - - ALS20 - hnRNP-A1 - hnRNPA1 - - - gene with protein product - - - - ClinVar - HNRNPA1 - - - Ensembl - ENSG00000135486 - - - Genatlas - HNRNPA1 - - - HGNC - 5031 - - - OMIM - 164017 - - - Reactome - P09651 - - - SwissProt - P09651 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 399081 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399081 - KLHL9-related early-onset distal myopathy - - Disease - - - Disorder - - - - 20554658[PMID] - - kelch like family member 9 - KLHL9 - - FLJ13568 - KIAA1354 - - - gene with protein product - - - - Ensembl - ENSG00000198642 - - - Genatlas - KLHL9 - - - HGNC - 18732 - - - OMIM - 611201 - - - Reactome - Q9P2J3 - - - SwissProt - Q9P2J3 - - - ClinVar - KLHL9 - - - - - 9p21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 399103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399103 - Distal nebulin myopathy - - Disease - - - Disorder - - - - 17525139[PMID] - - nebulin - NEB - - NEB177D - nemaline myopathy type 2 - - - gene with protein product - - - - OMIM - 161650 - - - Reactome - P20929 - - - SwissProt - P20929 - - - Ensembl - ENSG00000183091 - - - Genatlas - NEB - - - HGNC - 7720 - - - ClinVar - NEB - - - - - 2q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 399096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399096 - Distal anoctaminopathy - - Disease - - - Disorder - - - - 22980764[PMID] - - anoctamin 5 - ANO5 - - GDD1 - - - gene with protein product - - - - Ensembl - ENSG00000171714 - - - Genatlas - ANO5 - - - HGNC - 27337 - - - OMIM - 608662 - - - Reactome - Q75V66 - - - SwissProt - Q75V66 - - - ClinVar - ANO5 - - - - - 11p14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 398189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398189 - Focal facial dermal dysplasia type IV - - Clinical subtype - - - Subtype of disorder - - - - 23161670[PMID] - - cytochrome P450 family 26 subfamily C member 1 - CYP26C1 - - - - gene with protein product - - - - Ensembl - ENSG00000187553 - - - Genatlas - CYP26C1 - - - HGNC - 20577 - - - OMIM - 608428 - - - Reactome - Q6V0L0 - - - SwissProt - Q6V0L0 - - - IUPHAR - 1368 - - - ClinVar - CYP26C1 - - - - - 10q23.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 398069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398069 - Schaaf-Yang syndrome - - Disease - - - Disorder - - - - 24076603[PMID] - - MAGE family member L2 - MAGEL2 - - nM15 - - - gene with protein product - - - - Reactome - Q9UJ55 - - - ClinVar - MAGEL2 - - - Ensembl - ENSG00000254585 - - - Genatlas - MAGEL2 - - - HGNC - 6814 - - - OMIM - 605283 - - - SwissProt - Q9UJ55 - - - - - 15q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 398079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398079 - SIM1-related Prader-Willi-like syndrome - - Disease - - - Disorder - - - - 23778136[PMID] - - SIM bHLH transcription factor 1 - SIM1 - - bHLHe14 - - - gene with protein product - - - - ClinVar - SIM1 - - - Ensembl - ENSG00000112246 - - - Genatlas - SIM1 - - - HGNC - 10882 - - - OMIM - 603128 - - - SwissProt - P81133 - - - - - 6q16.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 398088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398088 - Hereditary cryohydrocytosis with normal stomatin - - Disease - - - Disorder - - - - 16227998[PMID] - - solute carrier family 4 member 1 (Diego blood group) - SLC4A1 - - CD233 - FR - Froese blood group - RTA1A - SW - Swann blood group - WR - Wright blood group - EMPB3 - Band 3 anion transport protein - - - gene with protein product - - - - ClinVar - SLC4A1 - - - IUPHAR - 904 - - - OMIM - 109270 - - - Reactome - P02730 - - - SwissProt - P02730 - - - Ensembl - ENSG00000004939 - - - Genatlas - SLC4A1 - - - HGNC - 11027 - - - - - 17q21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 435628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435628 - Keppen-Lubinsky syndrome - - Malformation syndrome - - - Disorder - - - - 25620207[PMID] - - potassium inwardly rectifying channel subfamily J member 6 - KCNJ6 - - BIR1 - GIRK2 - KATP2 - Kir3.2 - hiGIRK2 - G protein-activated inward rectifier potassium channel 2 - - - gene with protein product - - - - Ensembl - ENSG00000157542 - - - Genatlas - KCNJ6 - - - HGNC - 6267 - - - IUPHAR - 435 - - - OMIM - 600877 - - - Reactome - P48051 - - - SwissProt - P48051 - - - ClinVar - KCNJ6 - - - - - 21q22.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 435660 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435660 - LIPE-related familial partial lipodystrophy - - Disease - - - Disorder - - - - 25475467[PMID] - - lipase E, hormone sensitive type - LIPE - - HSL - - - gene with protein product - - - - ClinVar - LIPE - - - Ensembl - ENSG00000079435 - - - Genatlas - LIPE - - - HGNC - 6621 - - - IUPHAR - 2593 - - - OMIM - 151750 - - - Reactome - Q05469 - - - SwissProt - Q05469 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 435651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435651 - CIDEC-related familial partial lipodystrophy - - Disease - - - Disorder - - - - 20049731[PMID] - - cell death inducing DFFA like effector c - CIDEC - - CIDE-3 - FLJ20871 - Fsp27 - - - gene with protein product - - - - Genatlas - CIDEC - - - HGNC - 24229 - - - OMIM - 612120 - - - SwissProt - Q96AQ7 - - - Reactome - Q96AQ7 - - - ClinVar - CIDEC - - - Ensembl - ENSG00000187288 - - - - - 3p25.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 435638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435638 - 3p25.3 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - 25138099[PMID] - - SET domain containing 5 - SETD5 - - FLJ10707 - SETD5A - - - gene with protein product - - - - ClinVar - SETD5 - - - Ensembl - ENSG00000168137 - - - Genatlas - SETD5 - - - HGNC - 25566 - - - OMIM - 615743 - - - SwissProt - Q9C0A6 - - - - - 3p25.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 28881385[PMID] - - bromodomain and PHD finger containing 1 - BRPF1 - - BR140 - bromodomain-containing protein, 140kD - peregrin - - - gene with protein product - - - - HGNC - 14255 - - - Ensembl - ENSG00000156983 - - - OMIM - 602410 - - - IUPHAR - 2730 - - - SwissProt - P55201 - - - - - 3p25.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 435804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435804 - Short stature-advanced bone age-early-onset osteoarthritis syndrome - - Disease - - - Disorder - - - - 24762113[PMID] - - aggrecan - ACAN - - CSPGCP - aggrecan proteoglycan - - - gene with protein product - - - - ClinVar - ACAN - - - Ensembl - ENSG00000157766 - - - Genatlas - ACAN - - - HGNC - 319 - - - OMIM - 155760 - - - Reactome - P16112 - - - SwissProt - P16112 - - - - - 15q26.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 435845 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435845 - Lethal neonatal spasticity-epileptic encephalopathy syndrome - - Malformation syndrome - - - Disorder - - - - 25500575[PMID] - - BRCA1 associated ATM activator 1 - BRAT1 - - BRCA1-associated protein required for ATM activation protein 1 - MGC22916 - - - gene with protein product - - - - ClinVar - C7orf27 - - - Ensembl - ENSG00000106009 - - - Genatlas - C7orf27 - - - HGNC - 21701 - - - OMIM - 614506 - - - SwissProt - Q6PJG6 - - - Reactome - Q6PJG6 - - - - - 7p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 435930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435930 - Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome - - Disease - - - Disorder - - - - 24702266[PMID]_23167593[PMID] - - SIX homeobox 6 - SIX6 - - Six9 - - - gene with protein product - - - - ClinVar - SIX6 - - - Ensembl - ENSG00000184302 - - - Genatlas - SIX6 - - - HGNC - 10892 - - - OMIM - 606326 - - - SwissProt - O95475 - - - - - 14q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 435819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435819 - Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation - - Disease - - - Disorder - - - - 25098539[PMID] - - trafficking from ER to golgi regulator - TFG - - FLJ36137 - SPG57 - TF6 - - - gene with protein product - - - - ClinVar - TFG - - - Ensembl - ENSG00000114354 - - - Genatlas - TFG - - - HGNC - 11758 - - - OMIM - 602498 - - - Reactome - Q92734 - - - SwissProt - Q92734 - - - - - 3q12.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 435953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435953 - Progeroid features-hepatocellular carcinoma predisposition syndrome - - Disease - - - Disorder - - - - 25261934[PMID] - - SprT-like N-terminal domain - SPRTN - - DKFZP547N043 - DNA damage-targeting VCP (p97) adaptor - DVC1 - Spartan - SprT-like domain at the N terminus - - - gene with protein product - - - - ClinVar - SPRTN - - - Ensembl - ENSG00000010072 - - - Genatlas - SPRTN - - - HGNC - 25356 - - - OMIM - 616086 - - - Reactome - Q9H040 - - - SwissProt - Q9H040 - - - - - 1q42.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 435988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435988 - Chronic atrial and intestinal dysrhythmia syndrome - - Disease - - - Disorder - - - - 25282101[PMID] - - shugoshin 1 - SGO1 - - NY-BR-85 - - - gene with protein product - - - - ClinVar - SGOL1 - - - OMIM - 609168 - - - Reactome - Q5FBB7 - - - SwissProt - Q5FBB7 - - - Ensembl - ENSG00000129810 - - - Genatlas - SGOL1 - - - HGNC - 25088 - - - - - 3p24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 435934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435934 - COG2-CDG - - Disease - - - Disorder - - - - 24784932[PMID] - - component of oligomeric golgi complex 2 - COG2 - - - - gene with protein product - - - - ClinVar - COG2 - - - Ensembl - ENSG00000135775 - - - Genatlas - COG2 - - - HGNC - 6546 - - - OMIM - 606974 - - - Reactome - Q14746 - - - SwissProt - Q14746 - - - - - 1q42.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 435938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435938 - X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome - - Malformation syndrome - - - Disorder - - - - 25316788[PMID] - - ribosomal protein L10 - RPL10 - - DXS648 - DXS648E - FLJ23544 - L10 - NOV - QM - uL16 - - - gene with protein product - - - - ClinVar - RPL10 - - - Ensembl - ENSG00000147403 - - - Genatlas - RPL10 - - - HGNC - 10298 - - - OMIM - 312173 - - - Reactome - P27635 - - - SwissProt - P27635 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 436141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436141 - HIDEA syndrome - - Malformation syndrome - - - Disorder - - - - 35908151[PMID] - - prolyl 4-hydroxylase, transmembrane - P4HTM - - FLJ20262 - P4H-TM - PHD4 - EGLN4 - PH4 - PH-4 - HIFPH4 - Prolyl hydroxlase domain-containing 4 - hypoxia inducible factor prolyl 4 hydroxylase - - - gene with protein product - - - - Ensembl - ENSG00000178467 - - - ClinVar - P4HTM - - - HGNC - 28858 - - - OMIM - 614584 - - - Genatlas - P4HTM - - - SwissProt - Q9NXG6 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 436144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436144 - Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome - - Disease - - - Disorder - - - - 25057881[PMID] - - cyclin dependent kinase inhibitor 1C - CDKN1C - - KIP2 - P57 - - - gene with protein product - - - - Ensembl - ENSG00000129757 - - - Genatlas - CDKN1C - - - HGNC - 1786 - - - OMIM - 600856 - - - SwissProt - P49918 - - - Reactome - P49918 - - - ClinVar - CDKN1C - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 435998 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435998 - Autosomal recessive intermediate Charcot-Marie-Tooth disease type D - - Disease - - - Disorder - - - - 25152455[PMID] - - cytochrome c oxidase subunit 6A1 - COX6A1 - - cytochrome c oxidase subunit VIa liver isoform - COX6AL - - - gene with protein product - - - - ClinVar - COX6A1 - - - Ensembl - ENSG00000111775 - - - Genatlas - COX6A1 - - - HGNC - 2277 - - - OMIM - 602072 - - - Reactome - P12074 - - - SwissProt - P12074 - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 436159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436159 - Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency - - Disease - - - Disorder - - - - 25213377[PMID] - - cytotoxic T-lymphocyte associated protein 4 - CTLA4 - - CD - CD152 - GSE - gluten-sensitive enteropathy - celiac disease - CTLA-4 - - - gene with protein product - - - - IUPHAR - 2743 - - - ClinVar - CTLA4 - - - Ensembl - ENSG00000163599 - - - Genatlas - CTLA4 - - - HGNC - 2505 - - - OMIM - 123890 - - - Reactome - P16410 - - - SwissProt - P16410 - - - - - 2q33.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 436151 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436151 - Intellectual disability-expressive aphasia-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - 38923504[PMID]_33867525[PMID] - - SET binding protein 1 - SETBP1 - - KIAA0437 - SEB - - - gene with protein product - - - - ClinVar - SETBP1 - - - Ensembl - ENSG00000152217 - - - Genatlas - SETBP1 - - - HGNC - 15573 - - - OMIM - 611060 - - - SwissProt - Q9Y6X0 - - - - - 18q12.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 436169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436169 - Thrombomodulin-related bleeding disorder - - Disease - - - Disorder - - - - 25049278[PMID]_25564403[PMID] - - thrombomodulin - THBD - - CD141 - THRM - fetomodulin - BDCA-3 - - - gene with protein product - - - - ClinVar - THBD - - - Ensembl - ENSG00000178726 - - - Genatlas - THBD - - - HGNC - 11784 - - - OMIM - 188040 - - - Reactome - P07204 - - - SwissProt - P07204 - - - - - 20p11.21 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 436166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436166 - Periodic fever-infantile enterocolitis-autoinflammatory syndrome - - Disease - - - Disorder - - - - 25217960[PMID]_25217959[PMID] - - NLR family CARD domain containing 4 - NLRC4 - - CLAN - CLAN1 - CLANA - CLANB - CLANC - CLAND - CLR2.1 - NOD-like receptor C4 - ipaf - nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4 - - - gene with protein product - - - - Ensembl - ENSG00000091106 - - - ClinVar - NLRC4 - - - Genatlas - NLRC4 - - - HGNC - 16412 - - - IUPHAR - 1782 - - - OMIM - 606831 - - - Reactome - Q9NPP4 - - - SwissProt - Q9NPP4 - - - - - 2p22.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 436182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436182 - Microcephalic primordial dwarfism-insulin resistance syndrome - - Malformation syndrome - - - Disorder - - - - 25105364[PMID] - - NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase - NSMCE2 - - FLJ32440 - MMS21 - NSE2 - ZMIZ7 - zinc finger, MIZ-type containing 7 - - - gene with protein product - - - - Ensembl - ENSG00000156831 - - - Genatlas - NSMCE2 - - - HGNC - 26513 - - - Reactome - Q96MF7 - - - SwissProt - Q96MF7 - - - ClinVar - NSMCE2 - - - OMIM - 617246 - - - - - 8q24.13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25728776[PMID] - - X-ray repair cross complementing 4 - XRCC4 - - DNA repair protein XRCC4 - X-ray repair, complementing defective, repair in Chinese hamster - hXRCC4 - - - gene with protein product - - - - HGNC - 12831 - - - OMIM - 194363 - - - Genatlas - XRCC4 - - - SwissProt - Q13426 - - - Reactome - Q13426 - - - Ensembl - ENSG00000152422 - - - ClinVar - XRCC4 - - - - - 5q14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 436174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436174 - Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome - - Disease - - - Disorder - - - - 25130867[PMID] - - isoleucyl-tRNA synthetase 2, mitochondrial - IARS2 - - FLJ10326 - isoleucine tRNA ligase 2, mitochondrial - - - gene with protein product - - - - Ensembl - ENSG00000067704 - - - Genatlas - IARS2 - - - HGNC - 29685 - - - OMIM - 612801 - - - Reactome - Q9NSE4 - - - SwissProt - Q9NSE4 - - - ClinVar - IARS2 - - - - - 1q41 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 436245 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436245 - Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome - - Disease - - - Disorder - - - - 24916380[PMID] - - retinol dehydrogenase 11 - RDH11 - - ARSDR1 - MDT1 - SDR7C1 - androgen-regulated short-chain dehydrogenase/reductase 1 - short chain dehydrogenase/reductase family 7C, member 1 - - - gene with protein product - - - - ClinVar - RDH11 - - - Reactome - Q8TC12 - - - SwissProt - Q8TC12 - - - Ensembl - ENSG00000072042 - - - Genatlas - RDH11 - - - HGNC - 17964 - - - OMIM - 607849 - - - - - 14q24.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 436242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436242 - Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease - - Disease - - - Disorder - - - - 24925317[PMID] - - TNNI3 interacting kinase - TNNI3K - - CARK - - - gene with protein product - - - - Ensembl - ENSG00000116783 - - - Genatlas - TNNI3K - - - HGNC - 19661 - - - IUPHAR - 2247 - - - OMIM - 613932 - - - SwissProt - Q59H18 - - - ClinVar - TNNI3K - - - Reactome - Q59H18 - - - - - 1p31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 436271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436271 - Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy - - Disease - - - Disorder - - - - 25175347[PMID] - - cytochrome c oxidase assembly factor 8 - COA8 - - APOP-1 - MGC2562 - apoptogenic protein 1 - - - gene with protein product - - - - ClinVar - APOPT1 - - - Ensembl - ENSG00000256053 - - - Genatlas - APOPT1 - - - HGNC - 20492 - - - OMIM - 616003 - - - SwissProt - Q96IL0 - - - - - 14q32.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 436252 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436252 - Combined immunodeficiency-multiple intestinal atresia - - Disease - - - Disorder - - - - 24417819[PMID]_25174867[PMID] - - tetratricopeptide repeat domain 7A - TTC7A - - KIAA1140 - - - gene with protein product - - - - Ensembl - ENSG00000068724 - - - ClinVar - TTC7A - - - Genatlas - TTC7A - - - HGNC - 19750 - - - OMIM - 609332 - - - SwissProt - Q9ULT0 - - - - - 2p21 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 34415310[PMID] - - phosphatidylinositol 4-kinase alpha - PI4KA - - phosphatidylinositol 4-kinase III alpha - PI4K-ALPHA - pi4K230 - phosphatidylinositol 4-kinase IIIa - - - gene with protein product - - - - Ensembl - ENSG00000241973 - - - Genatlas - PI4KA - - - HGNC - 8983 - - - IUPHAR - 2148 - - - OMIM - 600286 - - - Reactome - P42356 - - - SwissProt - P42356 - - - ClinVar - PI4KA - - - - - 22q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 436274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436274 - Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa - - Disease - - - Disorder - - - - 24739904[PMID] - - gamma-glutamyl carboxylase - GGCX - - VKCFD1 - vitamin K-dependent gamma-carboxylase - peptidyl-glutamate 4-carboxylase - - - gene with protein product - - - - ClinVar - GGCX - - - Ensembl - ENSG00000115486 - - - Genatlas - GGCX - - - HGNC - 4247 - - - IUPHAR - 1268 - - - OMIM - 137167 - - - Reactome - P38435 - - - SwissProt - P38435 - - - - - 2p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 437552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437552 - Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity - - Disease - - - Disorder - - - - 23006327[PMID] - - Fc fragment of IgG receptor IIIa - FCGR3A - - FcgammaRIIIa - FcGRIIIA - CD16 - CD16a - Fc gamma receptor IIIa - - - gene with protein product - - - - Ensembl - ENSG00000203747 - - - Genatlas - FCGR3A - - - HGNC - 3619 - - - OMIM - 146740 - - - Reactome - P08637 - - - SwissProt - P08637 - - - ClinVar - FCGR3A - - - IUPHAR - 3017 - - - - - 1q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 438178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438178 - Fatty acyl-CoA reductase 1 deficiency - - Disease - - - Disorder - - - - 25439727[PMID] - - fatty acyl-CoA reductase 1 - FAR1 - - FLJ22728 - SDR10E1 - short chain dehydrogenase/reductase family 10E, member 1 - - - gene with protein product - - - - Ensembl - ENSG00000197601 - - - Genatlas - FAR1 - - - HGNC - 26222 - - - OMIM - 616107 - - - Reactome - Q8WVX9 - - - SwissProt - Q8WVX9 - - - ClinVar - FAR1 - - - - - 11p15.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 438159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438159 - STAT3-related early-onset multisystem autoimmune disease - - Disease - - - Disorder - - - - 25038750[PMID] - - signal transducer and activator of transcription 3 - STAT3 - - APRF - - - gene with protein product - - - - Ensembl - ENSG00000168610 - - - Genatlas - STAT3 - - - HGNC - 11364 - - - OMIM - 102582 - - - Reactome - P40763 - - - SwissProt - P40763 - - - IUPHAR - 2994 - - - ClinVar - STAT3 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 438134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438134 - PCNA-related progressive neurodegenerative photosensitivity syndrome - - Disease - - - Disorder - - - - 24911150[PMID] - - proliferating cell nuclear antigen - PCNA - - - - gene with protein product - - - - Reactome - P12004 - - - SwissProt - P12004 - - - ClinVar - PCNA - - - Ensembl - ENSG00000132646 - - - Genatlas - PCNA - - - HGNC - 8729 - - - OMIM - 176740 - - - - - 20p12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 438117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438117 - Steel syndrome - - Disease - - - Disorder - - - - 24986830[PMID] - - collagen type XXVII alpha 1 chain - COL27A1 - - FLJ11895 - KIAA1870 - MGC11337 - - - gene with protein product - - - - OMIM - 608461 - - - Reactome - Q8IZC6 - - - SwissProt - Q8IZC6 - - - ClinVar - COL27A1 - - - Ensembl - ENSG00000196739 - - - Genatlas - COL27A1 - - - HGNC - 22986 - - - - - 9q32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 438114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438114 - RARS-related autosomal recessive hypomyelinating leukodystrophy - - Disease - - - Disorder - - - - 24777941[PMID] - - arginyl-tRNA synthetase 1 - RARS1 - - DALRD1 - arginine tRNA ligase 1, cytoplasmic - - - gene with protein product - - - - HGNC - 9870 - - - OMIM - 107820 - - - Reactome - P54136 - - - SwissProt - P54136 - - - Ensembl - ENSG00000113643 - - - Genatlas - RARS - - - ClinVar - RARS - - - - - 5q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 438075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438075 - Ketoacidosis due to monocarboxylate transporter-1 deficiency - - Disease - - - Disorder - - - - 25390740[PMID] - - solute carrier family 16 member 1 - SLC16A1 - - Monocarboxylate transporter 1 - MCT - MCT1 - - - gene with protein product - - - - Ensembl - ENSG00000155380 - - - Genatlas - SLC16A1 - - - HGNC - 10922 - - - OMIM - 600682 - - - Reactome - P53985 - - - SwissProt - P53985 - - - ClinVar - SLC16A1 - - - IUPHAR - 988 - - - - - 1p13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 438274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438274 - GCGR-related hyperglucagonemia - - Disease - - - Disorder - - - - 19657311[PMID]_25914784[PMID] - - glucagon receptor - GCGR - - GGR - - - gene with protein product - - - - Ensembl - ENSG00000215644 - - - Genatlas - GCGR - - - HGNC - 4192 - - - IUPHAR - 251 - - - OMIM - 138033 - - - Reactome - P47871 - - - SwissProt - P47871 - - - ClinVar - GCGR - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 438216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438216 - PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation - - Etiological subtype - - - Subtype of disorder - - - - 25342064[PMID] - - purine rich element binding protein A - PURA - - PUR1 - PURALPHA - PUR-ALPHA - - - gene with protein product - - - - Reactome - Q00577 - - - ClinVar - PURA - - - Ensembl - ENSG00000185129 - - - Genatlas - PURA - - - HGNC - 9701 - - - OMIM - 600473 - - - SwissProt - Q00577 - - - - - 5q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 438207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438207 - Severe autosomal recessive macrothrombocytopenia - - Disease - - - Disorder - - - - 25061177[PMID] - - protein kinase cAMP-activated catalytic subunit gamma - PRKACG - - PKACg - - - gene with protein product - - - - Genatlas - PRKACG - - - HGNC - 9382 - - - IUPHAR - 1478 - - - OMIM - 176893 - - - Reactome - P22612 - - - SwissProt - P22612 - - - Ensembl - ENSG00000165059 - - - ClinVar - PRKACG - - - - - 9q21.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 30171045[PMID] - - glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - GNE - - Uae1 - bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase - - - gene with protein product - - - - ClinVar - GNE - - - Ensembl - ENSG00000159921 - - - Genatlas - GNE - - - HGNC - 23657 - - - OMIM - 603824 - - - Reactome - Q9Y223 - - - SwissProt - Q9Y223 - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 439212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439212 - Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome - - Disease - - - Disorder - - - - 22101682[PMID]_23453856[PMID] - - multiple EGF like domains 10 - MEGF10 - - KIAA1780 - SR-F3 - - - gene with protein product - - - - ClinVar - MEGF10 - - - Ensembl - ENSG00000145794 - - - Genatlas - MEGF10 - - - HGNC - 29634 - - - OMIM - 612453 - - - SwissProt - Q96KG7 - - - - - 5q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 439218 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439218 - KCNQ2-related developmental and epileptic encephalopathy - - Disease - - - Disorder - - - - 23621294[PMID]_20437616[PMID] - - potassium voltage-gated channel subfamily Q member 2 - KCNQ2 - - BFNC - ENB1 - HNSPC - KCNA11 - Kv7.2 - - - gene with protein product - - - - ClinVar - KCNQ2 - - - Ensembl - ENSG00000075043 - - - Genatlas - KCNQ2 - - - HGNC - 6296 - - - IUPHAR - 561 - - - OMIM - 602235 - - - Reactome - O43526 - - - SwissProt - O43526 - - - - - 20q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 439822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439822 - PDE4D haploinsufficiency syndrome - - Malformation syndrome - - - Disorder - - - - 24203977[PMID] - - phosphodiesterase 4D - PDE4D - - cAMP-specific 3',5'-cyclic phosphodiesterase 4D - phosphodiesterase E3 dunce homolog (Drosophila) - - - gene with protein product - - - - IUPHAR - 1303 - - - Ensembl - ENSG00000113448 - - - Genatlas - PDE4D - - - HGNC - 8783 - - - OMIM - 600129 - - - Reactome - Q08499 - - - SwissProt - Q08499 - - - ClinVar - PDE4D - - - - - 5q11.2-q12.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 439854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439854 - Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease - - Disease - - - Disorder - - - - 15877279[PMID]_17667862[PMID] - - protein kinase AMP-activated non-catalytic subunit gamma 2 - PRKAG2 - - AAKG - AAKG2 - AMPK gamma2 - CMH6 - H91620p - WPWS - - - gene with protein product - - - - OMIM - 602743 - - - Reactome - Q9UGJ0 - - - SwissProt - Q9UGJ0 - - - Ensembl - ENSG00000106617 - - - Genatlas - PRKAG2 - - - HGNC - 9386 - - - IUPHAR - 1546 - - - ClinVar - PRKAG2 - - - - - 7q36.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 439897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439897 - Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome - - Malformation syndrome - - - Disorder - - - - 24128419[PMID] - - kinesin family member 14 - KIF14 - - KIAA0042 - - - gene with protein product - - - - ClinVar - KIF14 - - - Ensembl - ENSG00000118193 - - - Genatlas - KIF14 - - - HGNC - 19181 - - - OMIM - 611279 - - - Reactome - Q15058 - - - SwissProt - Q15058 - - - - - 1q32.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 440402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440402 - Interstitial lung disease due to ABCA3 deficiency - - Disease - - - Disorder - - - - 22018035[PMID] - - ATP binding cassette subfamily A member 3 - ABCA3 - - ABC-C - EST111653 - LBM180 - - - gene with protein product - - - - ClinVar - ABCA3 - - - IUPHAR - 758 - - - Ensembl - ENSG00000167972 - - - Genatlas - ABCA3 - - - HGNC - 33 - - - OMIM - 601615 - - - Reactome - Q99758 - - - SwissProt - Q99758 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 440354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440354 - Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome - - Malformation syndrome - - - Disorder - - - - 25091507[PMID] - - collagen type XI alpha 1 chain - COL11A1 - - CO11A1 - STL2 - collagen XI, alpha-1 polypeptide - - - gene with protein product - - - - ClinVar - COL11A1 - - - Ensembl - ENSG00000060718 - - - Genatlas - COL11A1 - - - HGNC - 2186 - - - OMIM - 120280 - - - Reactome - P12107 - - - SwissProt - P12107 - - - - - 1p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 440392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440392 - Interstitial lung disease due to SP-C deficiency - - Disease - - - Disorder - - - - 25782673[PMID] - - surfactant protein C - SFTPC - - BRICD6 - BRICHOS domain containing 6 - PSP-C - SMDP2 - SP-C - - - gene with protein product - - - - ClinVar - SFTPC - - - Ensembl - ENSG00000168484 - - - Genatlas - SFTPC - - - HGNC - 10802 - - - OMIM - 178620 - - - Reactome - P11686 - - - SwissProt - P11686 - - - - - 8p21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 440713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440713 - Isolated sedoheptulokinase deficiency - - Disease - - - Disorder - - - - 25647543[PMID] - - sedoheptulokinase - SHPK - - SHK - - - gene with protein product - - - - Reactome - Q9UHJ6 - - - ClinVar - SHPK - - - Ensembl - ENSG00000197417 - - - Genatlas - SHPK - - - HGNC - 1492 - - - OMIM - 605060 - - - SwissProt - Q9UHJ6 - - - - - 17p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 440731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440731 - L-ferritin deficiency - - Biological anomaly - - - Disorder - - - - 23940258[PMID] - - ferritin light chain - FTL - - L apoferritin - MGC71996 - NBIA3 - ferritin L subunit - ferritin L-chain - ferritin light polypeptide-like 3 - neurodegeneration with brain iron accumulation 3 - FTL1 - - - gene with protein product - - - - ClinVar - FTL - - - Ensembl - ENSG00000087086 - - - Genatlas - FTL - - - HGNC - 3999 - - - OMIM - 134790 - - - Reactome - P02792 - - - SwissProt - P02792 - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - ferritin light chain - FTL - - L apoferritin - MGC71996 - NBIA3 - ferritin L subunit - ferritin L-chain - ferritin light polypeptide-like 3 - neurodegeneration with brain iron accumulation 3 - FTL1 - - - gene with protein product - - - - ClinVar - FTL - - - Ensembl - ENSG00000087086 - - - Genatlas - FTL - - - HGNC - 3999 - - - OMIM - 134790 - - - Reactome - P02792 - - - SwissProt - P02792 - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 440427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440427 - Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency - - Disease - - - Disorder - - - - 24103465[PMID]_25913036[PMID] - - methionyl-tRNA synthetase 1 - MARS1 - - CMT2U - MetRS - SPG70 - methionine tRNA ligase 1, cytoplasmic - Methionine--tRNA ligase, cytoplasmic - - - gene with protein product - - - - ClinVar - MARS - - - HGNC - 6898 - - - OMIM - 156560 - - - Reactome - P56192 - - - SwissProt - P56192 - - - Ensembl - ENSG00000166986 - - - Genatlas - MARS - - - - - 12q13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 440437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440437 - Familial colorectal cancer Type X - - Disease - - - Disorder - - - - 21640116[PMID] - - bone morphogenetic protein receptor type 1A - BMPR1A - - ALK3 - CD292 - - - gene with protein product - - - - HGNC - 1076 - - - IUPHAR - 1786 - - - OMIM - 601299 - - - Reactome - P36894 - - - SwissProt - P36894 - - - ClinVar - BMPR1A - - - Ensembl - ENSG00000107779 - - - Genatlas - BMPR1A - - - - - 10q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 38778081[PMID] - - nuclear protein, coactivator of histone transcription - NPAT - - E14 - p220 - - - gene with protein product - - - - Ensembl - ENSG00000149308 - - - OMIM - 601448 - - - SwissProt - Q14207 - - - HGNC - 7896 - - - - - 11q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24691292[PMID]_23007840[PMID] - - mutY DNA glycosylase - MUTYH - - MYH - - - gene with protein product - - - - ClinVar - MUTYH - - - Ensembl - ENSG00000132781 - - - Genatlas - MUTYH - - - HGNC - 7527 - - - OMIM - 604933 - - - Reactome - Q9UIF7 - - - SwissProt - Q9UIF7 - - - - - 1p34.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25307848[PMID] - - semaphorin 4A - SEMA4A - - CORD10 - FLJ12287 - SemB - - - gene with protein product - - - - ClinVar - SEMA4A - - - Ensembl - ENSG00000196189 - - - Genatlas - SEMA4A - - - HGNC - 10729 - - - OMIM - 607292 - - - Reactome - Q9H3S1 - - - SwissProt - Q9H3S1 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24941021[PMID] - - ribosomal protein S20 - RPS20 - - S20 - uS10 - - - gene with protein product - - - - ClinVar - RPS20 - - - Ensembl - ENSG00000008988 - - - Genatlas - RPS20 - - - HGNC - 10405 - - - OMIM - 603682 - - - Reactome - P60866 - - - SwissProt - P60866 - - - - - 8q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23263490[PMID]_36370464[PMID] - - DNA polymerase epsilon, catalytic subunit - POLE - - DNA polymerase epsilon catalytic subunit A - POLE1 - - - gene with protein product - - - - ClinVar - POLE - - - OMIM - 174762 - - - Reactome - Q07864 - - - SwissProt - Q07864 - - - Ensembl - ENSG00000177084 - - - Genatlas - POLE - - - HGNC - 9177 - - - - - 12q24.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28306219[PMID] - - DNA polymerase delta 1, catalytic subunit - POLD1 - - CDC2 - CDC2 homolog (S. cerevisiae) - - - gene with protein product - - - - Ensembl - ENSG00000062822 - - - Genatlas - POLD1 - - - HGNC - 9175 - - - OMIM - 174761 - - - Reactome - P28340 - - - SwissProt - P28340 - - - ClinVar - POLD1 - - - - - 19q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 36370464[PMID] - - BRCA2 DNA repair associated - BRCA2 - - BRCA1/BRCA2-containing complex, subunit 2 - BRCC2 - FAD - FAD1 - XRCC11 - - - gene with protein product - - - - SwissProt - P51587 - - - Ensembl - ENSG00000139618 - - - Genatlas - BRCA2 - - - HGNC - 1101 - - - OMIM - 600185 - - - Reactome - P51587 - - - ClinVar - BRCA2 - - - - - 13q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 36370464[PMID] - - ATM serine/threonine kinase - ATM - - TEL1 - TEL1, telomere maintenance 1, homolog (S. cerevisiae) - TELO1 - - - gene with protein product - - - - ClinVar - ATM - - - SwissProt - Q13315 - - - Ensembl - ENSG00000149311 - - - Genatlas - ATM - - - HGNC - 795 - - - IUPHAR - 1934 - - - OMIM - 607585 - - - Reactome - Q13315 - - - - - 11q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17106448[PMID] - - checkpoint kinase 2 - CHEK2 - - CDS1 - CHK2 - HuCds1 - PP1425 - bA444G7 - - - gene with protein product - - - - Ensembl - ENSG00000183765 - - - Genatlas - CHEK2 - - - HGNC - 16627 - - - IUPHAR - 1988 - - - OMIM - 604373 - - - Reactome - O96017 - - - SwissProt - O96017 - - - ClinVar - CHEK2 - - - - - 22q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 440706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440706 - Ribose-5-P isomerase deficiency - - Disease - - - Disorder - - - - 14988808[PMID]_20499043[PMID] - - ribose 5-phosphate isomerase A - RPIA - - ribose 5-phosphate epimerase - - - gene with protein product - - - - ClinVar - RPIA - - - Reactome - P49247 - - - SwissProt - P49247 - - - Ensembl - ENSG00000153574 - - - Genatlas - RPIA - - - HGNC - 10297 - - - OMIM - 180430 - - - - - 2p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 441447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441447 - Early-onset posterior subcapsular cataract - - Clinical subtype - - - Subtype of disorder - - - - 26788539[PMID] - - LEM domain nuclear envelope protein 2 - LEMD2 - - dJ482C21.1 - NET25 - LEM2 - lamina-associated polypeptide-emerin-MAN1 domain containing 2 - - - gene with protein product - - - - HGNC - 21244 - - - OMIM - 616312 - - - Genatlas - LEMD2 - - - SwissProt - Q8NC56 - - - Reactome - Q8NC56 - - - Ensembl - ENSG00000161904 - - - ClinVar - LEMD2 - - - - - 6p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21245961[PMID] - - crystallin beta B2 - CRYBB2 - - - - gene with protein product - - - - ClinVar - CRYBB2 - - - Ensembl - ENSG00000244752 - - - Genatlas - CRYBB2 - - - HGNC - 2398 - - - OMIM - 123620 - - - SwissProt - P43320 - - - - - 22q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17701905[PMID] - - charged multivesicular body protein 4B - CHMP4B - - VPS32B - dJ553F4.4 - SNF7-2 - Shax1 - - - gene with protein product - - - - Ensembl - ENSG00000101421 - - - Genatlas - CHMP4B - - - HGNC - 16171 - - - OMIM - 610897 - - - Reactome - Q9H444 - - - SwissProt - Q9H444 - - - ClinVar - CHMP4B - - - - - 20q11.22 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 24014202[PMID] - - EPH receptor A2 - EPHA2 - - - - gene with protein product - - - - ClinVar - EPHA2 - - - Ensembl - ENSG00000142627 - - - Genatlas - EPHA2 - - - HGNC - 3386 - - - IUPHAR - 1822 - - - OMIM - 176946 - - - Reactome - P29317 - - - SwissProt - P29317 - - - - - 1p36.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24549050[PMID] - - unc-45 myosin chaperone B - UNC45B - - UNC45 - - - gene with protein product - - - - ClinVar - UNC45B - - - Reactome - Q8IWX7 - - - Ensembl - ENSG00000141161 - - - Genatlas - UNC45B - - - HGNC - 14304 - - - OMIM - 611220 - - - SwissProt - Q8IWX7 - - - - - 17q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 441452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441452 - Early-onset lamellar cataract - - Clinical subtype - - - Subtype of disorder - - - - 10729115[PMID]_18958306[PMID] - - beaded filament structural protein 2 - BFSP2 - - CP47 - CP49 - LIFL-L - phakinin - - - gene with protein product - - - - ClinVar - BFSP2 - - - Reactome - Q13515 - - - Ensembl - ENSG00000170819 - - - Genatlas - BFSP2 - - - HGNC - 1041 - - - OMIM - 603212 - - - SwissProt - Q13515 - - - - - 3q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23255486[PMID] - - crystallin alpha A - CRYAA - - HSPB4 - - - gene with protein product - - - - ClinVar - CRYAA - - - Ensembl - ENSG00000160202 - - - Genatlas - CRYAA - - - HGNC - 2388 - - - OMIM - 123580 - - - SwissProt - P02489 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16505043[PMID] - - crystallin alpha B - CRYAB - - HSPB5 - - - gene with protein product - - - - ClinVar - CRYAB - - - Reactome - P02511 - - - SwissProt - P02511 - - - Ensembl - ENSG00000109846 - - - Genatlas - CRYAB - - - HGNC - 2389 - - - OMIM - 123590 - - - - - 11q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15016766[PMID] - - crystallin beta A1 - CRYBA1 - - eye lens structural protein - - - gene with protein product - - - - ClinVar - CRYBA1 - - - Reactome - P05813 - - - Ensembl - ENSG00000108255 - - - Genatlas - CRYBA1 - - - HGNC - 2394 - - - OMIM - 123610 - - - SwissProt - P05813 - - - - - 17q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16960806[PMID] - - crystallin beta A4 - CRYBA4 - - - - gene with protein product - - - - ClinVar - CRYBA4 - - - Reactome - P53673 - - - Ensembl - ENSG00000196431 - - - Genatlas - CRYBA4 - - - HGNC - 2396 - - - OMIM - 123631 - - - SwissProt - P53673 - - - - - 22q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12011157[PMID] - - crystallin gamma C - CRYGC - - - - gene with protein product - - - - ClinVar - CRYGC - - - Ensembl - ENSG00000163254 - - - Genatlas - CRYGC - - - HGNC - 2410 - - - OMIM - 123680 - - - SwissProt - P07315 - - - - - 2q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12011157[PMID]_21866214[PMID] - - crystallin gamma D - CRYGD - - - - gene with protein product - - - - ClinVar - CRYGD - - - Ensembl - ENSG00000118231 - - - Genatlas - CRYGD - - - HGNC - 2411 - - - OMIM - 123690 - - - SwissProt - P07320 - - - - - 2q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12089525[PMID] - - heat shock transcription factor 4 - HSF4 - - - - gene with protein product - - - - ClinVar - HSF4 - - - Ensembl - ENSG00000102878 - - - Genatlas - HSF4 - - - HGNC - 5227 - - - OMIM - 602438 - - - SwissProt - Q9ULV5 - - - - - 16q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23116563[PMID] - - major intrinsic protein of lens fiber - MIP - - AQP0 - LIM1 - MP26 - aquaporin 0 - - - gene with protein product - - - - Ensembl - ENSG00000135517 - - - Genatlas - MIP - - - HGNC - 7103 - - - OMIM - 154050 - - - Reactome - P30301 - - - SwissProt - P30301 - - - IUPHAR - 687 - - - ClinVar - MIP - - - - - 12q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18587492[PMID]_16141006[PMID] - - crystallin gamma S - CRYGS - - crystallin, gamma 8 - - - gene with protein product - - - - ClinVar - CRYGS - - - Ensembl - ENSG00000213139 - - - Genatlas - CRYGS - - - HGNC - 2417 - - - OMIM - 123730 - - - SwissProt - P22914 - - - - - 3q27.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23288985[PMID] - - crystallin gamma B - CRYGB - - - - gene with protein product - - - - ClinVar - CRYGB - - - Ensembl - ENSG00000182187 - - - Genatlas - CRYGB - - - HGNC - 2409 - - - OMIM - 123670 - - - SwissProt - P07316 - - - - - 2q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 443057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443057 - Sporadic porphyria cutanea tarda - - Clinical subtype - - - Subtype of disorder - - - - 23741761[PMID] - - homeostatic iron regulator - HFE - - HLA-H - high Fe - HFE1 - - - gene with protein product - - - - OMIM - 613609 - - - SwissProt - Q30201 - - - Ensembl - ENSG00000010704 - - - Genatlas - HFE - - - HGNC - 4886 - - - Reactome - Q30201 - - - ClinVar - HFE - - - - - 6p22.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 443062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443062 - Familial porphyria cutanea tarda - - Clinical subtype - - - Subtype of disorder - - - - 23741761[PMID] - - uroporphyrinogen decarboxylase - UROD - - - - gene with protein product - - - - ClinVar - UROD - - - Reactome - P06132 - - - SwissProt - P06132 - - - Ensembl - ENSG00000126088 - - - Genatlas - UROD - - - HGNC - 12591 - - - OMIM - 613521 - - - - - 1p34.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23741761[PMID] - - homeostatic iron regulator - HFE - - HLA-H - high Fe - HFE1 - - - gene with protein product - - - - OMIM - 613609 - - - SwissProt - Q30201 - - - Ensembl - ENSG00000010704 - - - Genatlas - HFE - - - HGNC - 4886 - - - Reactome - Q30201 - - - ClinVar - HFE - - - - - 6p22.2 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - - - 443073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443073 - Charcot-Marie-Tooth disease type 2S - - Disease - - - Disorder - - - - 25439726[PMID] - - immunoglobulin mu DNA binding protein 2 - IGHMBP2 - - CATF1 - CMT2S - HCSA - HMN6 - SMARD1 - SMUBP2 - ZFAND7 - cardiac transcription factor 1 - zinc finger, AN1-type domain 7 - - - gene with protein product - - - - ClinVar - IGHMBP2 - - - Ensembl - ENSG00000132740 - - - Genatlas - IGHMBP2 - - - HGNC - 5542 - - - OMIM - 600502 - - - SwissProt - P38935 - - - - - 11q13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 442835 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442835 - Non-specific early-onset epileptic encephalopathy - - Disease - - - Disorder - - - - 31031012[PMID] - - actin like 6B - ACTL6B - - SMARCN2 - BAF53B - - - gene with protein product - - - - HGNC - 160 - - - Ensembl - ENSG00000077080 - - - SwissProt - O94805 - - - Reactome - O94805 - - - OMIM - 612458 - - - - - 7q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27864268[PMID] - - gamma-aminobutyric acid type A receptor subunit gamma2 - GABRG2 - - GABA(A) receptor, gamma 2 - - - gene with protein product - - - - ClinVar - GABRG2 - - - Ensembl - ENSG00000113327 - - - Genatlas - GABRG2 - - - HGNC - 4087 - - - IUPHAR - 414 - - - OMIM - 137164 - - - Reactome - P18507 - - - SwissProt - P18507 - - - - - 5q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31032849[PMID] - - gamma-aminobutyric acid type A receptor subunit alpha2 - GABRA2 - - GABA(A) receptor, alpha 2 - - - gene with protein product - - - - HGNC - 4076 - - - Ensembl - ENSG00000151834 - - - SwissProt - P47869 - - - Reactome - P47869 - - - IUPHAR - 405 - - - OMIM - 137140 - - - - - 4p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34788397[PMID] - - fizzy and cell division cycle 20 related 1 - FZR1 - - FZR - CDH1 - CDC20C - HCDH - KIAA1242 - FZR2 - HCDH1 - CDC20 homolog 1 - - - gene with protein product - - - - SwissProt - Q9UM11 - - - OMIM - 603619 - - - HGNC - 24824 - - - Ensembl - ENSG00000105325 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31056671[PMID] - - gamma-aminobutyric acid type A receptor subunit alpha5 - GABRA5 - - GABA(A) receptor, alpha 5 - - - gene with protein product - - - - IUPHAR - 408 - - - HGNC - 4079 - - - Ensembl - ENSG00000186297 - - - SwissProt - P31644 - - - OMIM - 137142 - - - Genatlas - GABRA5 - - - Reactome - P31644 - - - ClinVar - GABRA5 - - - - - 15q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29656858[PMID] - - phosphofurin acidic cluster sorting protein 2 - PACS2 - - KIAA0602 - - - gene with protein product - - - - Genatlas - PACS2 - - - ClinVar - PACS2 - - - HGNC - 23794 - - - OMIM - 610423 - - - Ensembl - ENSG00000179364 - - - SwissProt - Q86VP3 - - - - - 14q32.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28777935[PMID] - - tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma - YWHAG - - 14-3-3? - 14-3-3GAMMA - 14-3-3 gamma - PPP1R170 - protein phosphatase 1, regulatory subunit 170 - 14-3-3γ - - - gene with protein product - - - - ClinVar - YWHAG - - - HGNC - 12852 - - - Ensembl - ENSG00000170027 - - - SwissProt - P61981 - - - OMIM - 605356 - - - Genatlas - YWHAG - - - Reactome - P61981 - - - - - 7q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27545674[PMID]_27545681[PMID] - - ubiquitin like modifier activating enzyme 5 - UBA5 - - FLJ23251 - UBA5, ubiquitin-activating enzyme E1 homolog (yeast) - - - gene with protein product - - - - HGNC - 23230 - - - OMIM - 610552 - - - Genatlas - UBA5 - - - SwissProt - Q9GZZ9 - - - Reactome - Q9GZZ9 - - - Ensembl - ENSG00000081307 - - - ClinVar - UBA5 - - - - - 3q22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 27616483[PMID] - - glutamate ionotropic receptor NMDA type subunit 2D - GRIN2D - - EB11 - GluN2D - N-methyl-d-aspartate receptor subunit 2D - NR2D - - - gene with protein product - - - - OMIM - 602717 - - - Genatlas - GRIN2D - - - SwissProt - O15399 - - - Reactome - O15399 - - - Ensembl - ENSG00000105464 - - - HGNC - 4588 - - - IUPHAR - 459 - - - ClinVar - GRIN2D - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 32427860[PMID] - - DALR anticodon binding domain containing 3 - DALRD3 - - FLJ10496 - - - gene with protein product - - - - HGNC - 25536 - - - Ensembl - ENSG00000178149 - - - SwissProt - Q5D0E6 - - - Reactome - Q5D0E6 - - - OMIM - 618904 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 28364549[PMID] - - trafficking kinesin protein 1 - TRAK1 - - KIAA1042 - MILT1 - milton homolog 1 (Drosophila) - O-linked N-acetylglucosamine transferase interacting protein 106 - OGT(O Glc NAc transferase) interacting protein 106 KDa - OIP106 - - - gene with protein product - - - - ClinVar - TRAK1 - - - SwissProt - Q9UPV9 - - - OMIM - 608112 - - - HGNC - 29947 - - - Ensembl - ENSG00000182606 - - - Genatlas - TRAK1 - - - Reactome - Q9UPV9 - - - - - 3p22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 27476654[PMID]_28777935[PMID] - - solute carrier family 1 member 2 - SLC1A2 - - GLT-1 - EAAT2 - HBGT - glutamate transporter-1 - human brain glutamate transporter - Excitatory amino acid transporter 2 - GLT1 - - - gene with protein product - - - - OMIM - 600300 - - - SwissProt - P43004 - - - Ensembl - ENSG00000110436 - - - Reactome - P43004 - - - IUPHAR - 869 - - - Genatlas - SLC1A2 - - - ClinVar - SLC1A2 - - - HGNC - 10940 - - - - - 11p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27889060[PMID] - - adaptor related protein complex 3 subunit beta 2 - AP3B2 - - NAPTB - - - gene with protein product - - - - HGNC - 567 - - - Ensembl - ENSG00000103723 - - - ClinVar - AP3B2 - - - OMIM - 602166 - - - SwissProt - Q13367 - - - Genatlas - AP3B2 - - - - - 15q25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29668857[PMID] - - ATPase H+ transporting V1 subunit A - ATP6V1A - - VA68 - Vma1 - V-ATPase subunit A - V-type proton ATPase (V-ATPase) catalytic subunit A - - - gene with protein product - - - - HGNC - 851 - - - Ensembl - ENSG00000114573 - - - OMIM - 607027 - - - Genatlas - ATP6V1A - - - Reactome - P38606 - - - SwissProt - P38606 - - - IUPHAR - 810 - - - ClinVar - ATP6V1A - - - - - 3q13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29466837[PMID] - - sodium voltage-gated channel alpha subunit 3 - SCN3A - - Nav1.3 - - - gene with protein product - - - - OMIM - 182391 - - - IUPHAR - 580 - - - Ensembl - ENSG00000153253 - - - Genatlas - SCN3A - - - Reactome - Q9NY46 - - - ClinVar - SCN3A - - - HGNC - 10590 - - - SwissProt - Q9NY46 - - - - - 2q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29100083[PMID] - - gamma-aminobutyric acid type A receptor subunit beta2 - GABRB2 - - GABA(A) receptor, beta 2 - - - gene with protein product - - - - HGNC - 4082 - - - Genatlas - GABRB2 - - - Reactome - P47870 - - - ClinVar - GABRB2 - - - SwissProt - P47870 - - - Ensembl - ENSG00000145864 - - - IUPHAR - 411 - - - OMIM - 600232 - - - - - 5q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29100083[PMID] - - clathrin heavy chain - CLTC - - Hc - - - gene with protein product - - - - ClinVar - CLTC - - - Ensembl - ENSG00000141367 - - - Genatlas - CLTC - - - HGNC - 2092 - - - OMIM - 118955 - - - Reactome - Q00610 - - - SwissProt - Q00610 - - - - - 17q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29100083[PMID] - - NUS1 dehydrodolichyl diphosphate synthase subunit - NUS1 - - Nogo-B receptor - TANGO14 - transport and golgi organization 14 homolog (Drosophila) - MGC7199 - NgBR - - - gene with protein product - - - - HGNC - 21042 - - - Ensembl - ENSG00000153989 - - - SwissProt - Q96E22 - - - OMIM - 610463 - - - Genatlas - NUS1 - - - Reactome - Q96E22 - - - ClinVar - NUS1 - - - - - 6q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29534297[PMID] - - cytoplasmic FMR1 interacting protein 2 - CYFIP2 - - p53 inducible protein - PIR121 - - - gene with protein product - - - - HGNC - 13760 - - - Ensembl - ENSG00000055163 - - - SwissProt - Q96F07 - - - OMIM - 606323 - - - Genatlas - CYFIP2 - - - Reactome - Q96F07 - - - ClinVar - CYFIP2 - - - - - 5q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33280099[PMID] - - F-box protein 28 - FBXO28 - - FLJ10766 - Fbx28 - KIAA0483 - CENP-30 - centromere protein 30 - - - gene with protein product - - - - Ensembl - ENSG00000143756 - - - SwissProt - Q9NVF7 - - - OMIM - 609100 - - - Reactome - Q9NVF7 - - - HGNC - 29046 - - - ClinVar - FBXO28 - - - Genatlas - FBXO28 - - - - - 1q42.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29100083[PMID] - - neurotrophic receptor tyrosine kinase 2 - NTRK2 - - TRKB - BDNF/NT-3 growth factors receptor - - - gene with protein product - - - - Genatlas - NTRK2 - - - HGNC - 8032 - - - IUPHAR - 1818 - - - OMIM - 600456 - - - Reactome - Q16620 - - - SwissProt - Q16620 - - - Ensembl - ENSG00000148053 - - - ClinVar - NTRK2 - - - - - 9q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35314505[PMID] - - potassium voltage-gated channel subfamily C member 2 - KCNC2 - - Kv3.2 - - - gene with protein product - - - - OMIM - 176256 - - - HGNC - 6234 - - - SwissProt - Q96PR1 - - - Ensembl - ENSG00000166006 - - - IUPHAR - 549 - - - - - 12q21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 34605855[PMID] - - solute carrier family 38 member 3 - SLC38A3 - - G17 - Sodium-coupled neutral amino acid transporter 3 - SN1 - SNAT3 - - - gene with protein product - - - - HGNC - 18044 - - - Ensembl - ENSG00000188338 - - - OMIM - 604437 - - - IUPHAR - 1172 - - - SwissProt - Q99624 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27164707[PMID] - - fibroblast growth factor 12 - FGF12 - - FHF1 - fibroblast growth factor 12B - fibroblast growth factor FGF-12b - fibroblast growth factor homologous factor 1 - myocyte-activating factor - - - gene with protein product - - - - HGNC - 3668 - - - OMIM - 601513 - - - Genatlas - FGF12 - - - SwissProt - P61328 - - - Reactome - P61328 - - - Ensembl - ENSG00000114279 - - - ClinVar - FGF12 - - - - - 3q28-q29 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 23932106[PMID] - - SZT2 subunit of KICSTOR complex - SZT2 - - FLJ10387 - FLJ34502 - RP11-506B15.1 - SZT2A - SZT2B - seizure threshold 2 homolog A (mouse) - seizure threshold 2 homolog B (mouse) - KICS1 - - - gene with protein product - - - - ClinVar - SZT2 - - - Ensembl - ENSG00000198198 - - - Genatlas - SZT2 - - - HGNC - 29040 - - - OMIM - 615463 - - - SwissProt - Q5T011 - - - - - 1p34.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33131106[PMID] - - CUGBP Elav-like family member 2 - CELF2 - - Etr-3 - NAPOR-2 - BRUNOL3 - - - gene with protein product - - - - SwissProt - O95319 - - - Ensembl - ENSG00000048740 - - - OMIM - 602538 - - - HGNC - 2550 - - - - - 10p14 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29100083[PMID] - - dehydrodolichyl diphosphate synthase subunit - DHDDS - - RP59 - DS - FLJ13102 - HDS - hCIT - - - gene with protein product - - - - Ensembl - ENSG00000117682 - - - Genatlas - DHDDS - - - HGNC - 20603 - - - OMIM - 608172 - - - Reactome - Q86SQ9 - - - SwissProt - Q86SQ9 - - - ClinVar - DHDDS - - - - - 1p36.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28942967[PMID] - - protein phosphatase 3 catalytic subunit alpha - PPP3CA - - calcineurin A alpha - CNA1 - PPP2B - protein phosphatase 2B, catalytic subunit, alpha isoform - - - gene with protein product - - - - ClinVar - PPP3CA - - - HGNC - 9314 - - - SwissProt - Q08209 - - - Ensembl - ENSG00000138814 - - - OMIM - 114105 - - - Genatlas - PPP3CA - - - Reactome - Q08209 - - - - - 4q24 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27435091[PMID] - - synaptojanin 1 - SYNJ1 - - INPP5G - PARK20 - inositol polyphosphate-5-phosphatase G - phosphoinositide 5-phosphatase - synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1 - - - gene with protein product - - - - ClinVar - SYNJ1 - - - IUPHAR - 1461 - - - Ensembl - ENSG00000159082 - - - Genatlas - SYNJ1 - - - HGNC - 11503 - - - OMIM - 604297 - - - Reactome - O43426 - - - SwissProt - O43426 - - - - - 21q22.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31454984[PMID] - - forkhead box G1 - FOXG1 - - brain factor 1 - BF1 - HBF-3 - HFK1 - HFK2 - HFK3 - QIN - - - gene with protein product - - - - ClinVar - FOXG1 - - - Ensembl - ENSG00000176165 - - - Genatlas - FOXG1 - - - HGNC - 3811 - - - OMIM - 164874 - - - SwissProt - P55316 - - - - - 14q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23708187[PMID] - - synaptic Ras GTPase activating protein 1 - SYNGAP1 - - KIAA1938 - RASA5 - SYNGAP - - - gene with protein product - - - - Ensembl - ENSG00000197283 - - - Genatlas - SYNGAP1 - - - HGNC - 11497 - - - OMIM - 603384 - - - Reactome - Q96PV0 - - - SwissProt - Q96PV0 - - - ClinVar - SYNGAP1 - - - - - 6p21.32 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 24776920[PMID] - - sodium voltage-gated channel alpha subunit 1 - SCN1A - - GEFSP2 - HBSCI - NAC1 - Nav1.1 - SMEI - - - gene with protein product - - - - ClinVar - SCN1A - - - Ensembl - ENSG00000144285 - - - Genatlas - SCN1A - - - HGNC - 10585 - - - IUPHAR - 578 - - - OMIM - 182389 - - - Reactome - P35498 - - - SwissProt - P35498 - - - - - 2q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25411445[PMID] - - WW domain containing oxidoreductase - WWOX - - WOX1 - short chain dehydrogenase/reductase family 41C, member 1 - FOR - SDR41C1 - - - gene with protein product - - - - Ensembl - ENSG00000186153 - - - Genatlas - WWOX - - - HGNC - 12799 - - - OMIM - 605131 - - - Reactome - Q9NZC7 - - - SwissProt - Q9NZC7 - - - ClinVar - WWOX - - - - - 16q23.1-q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25817015[PMID] - - alanyl-tRNA synthetase 1 - AARS1 - - AlaRS - CMT2N - alanine tRNA ligase 1, cytoplasmic - - - gene with protein product - - - - Ensembl - ENSG00000090861 - - - Genatlas - AARS - - - HGNC - 20 - - - OMIM - 601065 - - - Reactome - P49588 - - - SwissProt - P49588 - - - ClinVar - AARS - - - - - 16q22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22365152[PMID]_23708187[PMID] - - sodium voltage-gated channel alpha subunit 8 - SCN8A - - CIAT - CerIII - NaCh6 - Nav1.6 - PN4 - - - gene with protein product - - - - Ensembl - ENSG00000196876 - - - Genatlas - SCN8A - - - HGNC - 10596 - - - IUPHAR - 583 - - - OMIM - 600702 - - - Reactome - Q9UQD0 - - - SwissProt - Q9UQD0 - - - ClinVar - SCN8A - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 24399846[PMID] - - NECAP endocytosis associated 1 - NECAP1 - - DKFZP566B183 - adaptin-ear-binding coat-associated protein 1 - - - gene with protein product - - - - ClinVar - NECAP1 - - - Ensembl - ENSG00000089818 - - - Genatlas - NECAP1 - - - HGNC - 24539 - - - OMIM - 611623 - - - Reactome - Q8NC96 - - - SwissProt - Q8NC96 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24747641[PMID]_25678871[PMID] - - hyperpolarization activated cyclic nucleotide gated potassium channel 1 - HCN1 - - BCNG-1 - HAC-2 - - - gene with protein product - - - - Ensembl - ENSG00000164588 - - - Genatlas - HCN1 - - - HGNC - 4845 - - - IUPHAR - 400 - - - OMIM - 602780 - - - Reactome - O60741 - - - SwissProt - O60741 - - - ClinVar - HCN1 - - - - - 5p12 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 24995870[PMID] - - solute carrier family 13 member 5 - SLC13A5 - - NACT - INDY - mammalian INDY homolog (Drosophila) - Na(+)/citrate cotransporter - mINDY - - - gene with protein product - - - - SwissProt - Q86YT5 - - - Ensembl - ENSG00000141485 - - - Genatlas - SLC13A5 - - - HGNC - 23089 - - - OMIM - 608305 - - - Reactome - Q86YT5 - - - ClinVar - SLC13A5 - - - IUPHAR - 981 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25164438[PMID] - - potassium voltage-gated channel subfamily B member 1 - KCNB1 - - Kv2.1 - - - gene with protein product - - - - Ensembl - ENSG00000158445 - - - Genatlas - KCNB1 - - - HGNC - 6231 - - - IUPHAR - 546 - - - OMIM - 600397 - - - Reactome - Q14721 - - - SwissProt - Q14721 - - - ClinVar - KCNB1 - - - - - 20q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25262651[PMID]_25533962[PMID] - - dynamin 1 - DNM1 - - - - gene with protein product - - - - Ensembl - ENSG00000106976 - - - Genatlas - DNM1 - - - HGNC - 2972 - - - OMIM - 602377 - - - Reactome - Q05193 - - - SwissProt - Q05193 - - - ClinVar - DNM1 - - - - - 9q34.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25751627[PMID] - - potassium voltage-gated channel subfamily A member 2 - KCNA2 - - HK4 - Kv1.2 - - - gene with protein product - - - - ClinVar - KCNA2 - - - Ensembl - ENSG00000177301 - - - Genatlas - KCNA2 - - - HGNC - 6220 - - - IUPHAR - 539 - - - OMIM - 176262 - - - Reactome - P16389 - - - SwissProt - P16389 - - - - - 1p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25751627[PMID] - - potassium voltage-gated channel subfamily A member 2 - KCNA2 - - HK4 - Kv1.2 - - - gene with protein product - - - - ClinVar - KCNA2 - - - Ensembl - ENSG00000177301 - - - Genatlas - KCNA2 - - - HGNC - 6220 - - - IUPHAR - 539 - - - OMIM - 176262 - - - Reactome - P16389 - - - SwissProt - P16389 - - - - - 1p13.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 23647072[PMID] - - eukaryotic translation elongation factor 1 alpha 2 - EEF1A2 - - EEF1AL - HS1 - - - gene with protein product - - - - Ensembl - ENSG00000101210 - - - Genatlas - EEF1A2 - - - HGNC - 3192 - - - OMIM - 602959 - - - Reactome - Q05639 - - - SwissProt - Q05639 - - - ClinVar - EEF1A2 - - - - - 20q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25223753[PMID] - - connector enhancer of kinase suppressor of Ras 2 - CNKSR2 - - CNK2 - KIAA0902 - KSR2 - - - gene with protein product - - - - HGNC - 19701 - - - OMIM - 300724 - - - Reactome - Q8WXI2 - - - SwissProt - Q8WXI2 - - - Ensembl - ENSG00000149970 - - - Genatlas - CNKSR2 - - - ClinVar - CNKSR2 - - - - - Xp22.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29915213[PMID] - - prolyl-tRNA synthetase 2, mitochondrial - PARS2 - - DKFZp727A071 - proline tRNA ligase 2, mitochondrial (putative) - - - gene with protein product - - - - HGNC - 30563 - - - Ensembl - ENSG00000162396 - - - SwissProt - Q7L3T8 - - - OMIM - 612036 - - - Reactome - Q7L3T8 - - - - - 1p32.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33880529[PMID] - - ATPase Na+/K+ transporting subunit alpha 2 - ATP1A2 - - FHM2 - sodium pump subunit alpha-2 - sodium-potassium ATPase catalytic subunit alpha-2 - sodium/potassium-transporting ATPase subunit alpha-2 - - - gene with protein product - - - - ClinVar - ATP1A2 - - - IUPHAR - 834 - - - HGNC - 800 - - - OMIM - 182340 - - - Reactome - P50993 - - - SwissProt - P50993 - - - Ensembl - ENSG00000018625 - - - Genatlas - ATP1A2 - - - - - 1q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33880529[PMID] - - ATPase Na+/K+ transporting subunit alpha 3 - ATP1A3 - - sodium pump subunit alpha-3 - sodium-potassium ATPase catalytic subunit alpha-3 - sodium/potassium-transporting ATPase subunit alpha-3 - - - gene with protein product - - - - ClinVar - ATP1A3 - - - IUPHAR - 835 - - - Ensembl - ENSG00000105409 - - - Genatlas - ATP1A3 - - - HGNC - 801 - - - OMIM - 182350 - - - Reactome - P13637 - - - SwissProt - P13637 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25262651[PMID] - - gamma-aminobutyric acid type B receptor subunit 2 - GABBR2 - - HG20 - GPRC3B - GABABR2 - - - gene with protein product - - - - HGNC - 4507 - - - Reactome - O75899 - - - SwissProt - O75899 - - - ClinVar - GABBR2 - - - OMIM - 607340 - - - IUPHAR - 241 - - - Ensembl - ENSG00000136928 - - - Genatlas - GABBR2 - - - - - 9q22.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30982612[PMID] - - calcium voltage-gated channel subunit alpha1 B - CACNA1B - - CACNN - Cav2.2 - - - gene with protein product - - - - Reactome - Q00975 - - - SwissProt - Q00975 - - - Genatlas - CACNA1B - - - OMIM - 601012 - - - ClinVar - CACNA1B - - - Ensembl - ENSG00000148408 - - - IUPHAR - 533 - - - HGNC - 1389 - - - - - 9q34.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 32330417[PMID] - - cyclin dependent kinase 19 - CDK19 - - bA346C16.3 - KIAA1028 - - - gene with protein product - - - - IUPHAR - 1972 - - - ClinVar - CDK19 - - - HGNC - 19338 - - - Ensembl - ENSG00000155111 - - - SwissProt - Q9BWU1 - - - OMIM - 614720 - - - Genatlas - CDK19 - - - Reactome - Q9BWU1 - - - - - 6q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27476654[PMID] - - calcium voltage-gated channel subunit alpha1 A - CACNA1A - - APCA - Cav2.1 - EA2 - FHM - HPCA - - - gene with protein product - - - - ClinVar - CACNA1A - - - Ensembl - ENSG00000141837 - - - Genatlas - CACNA1A - - - HGNC - 1388 - - - IUPHAR - 532 - - - OMIM - 601011 - - - Reactome - O00555 - - - SwissProt - O00555 - - - - - 19p13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35293990[PMID] - - calcium voltage-gated channel auxiliary subunit alpha2delta 1 - CACNA2D1 - - alpha2delta-1 - lncRNA-N3 - - - gene with protein product - - - - Ensembl - ENSG00000153956 - - - Genatlas - CACNA2D1 - - - HGNC - 1399 - - - OMIM - 114204 - - - Reactome - P54289 - - - SwissProt - P54289 - - - ClinVar - CACNA2D1 - - - - - 7q21.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 443197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443197 - X-linked erythropoietic protoporphyria - - Disease - - - Disorder - - - - 23409301[PMID] - - 5'-aminolevulinate synthase 2 - ALAS2 - - sideroblastic/hypochromic anemia - erythroid-specific delta-aminolevulinate synthase - ALAS-E - - - gene with protein product - - - - Ensembl - ENSG00000158578 - - - Genatlas - ALAS2 - - - HGNC - 397 - - - OMIM - 301300 - - - Reactome - P22557 - - - SwissProt - P22557 - - - ClinVar - ALAS2 - - - - - Xp11.21 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298 - Mitochondrial neurogastrointestinal encephalomyopathy - - Disease - - - Disorder - - - - 12825077[PMID] - - DNA polymerase gamma, catalytic subunit - POLG - - POLG1 - POLGA - - - gene with protein product - - - - Ensembl - ENSG00000140521 - - - Genatlas - POLG - - - HGNC - 9179 - - - OMIM - 174763 - - - SwissProt - P54098 - - - Reactome - P54098 - - - ClinVar - POLG - - - - - 15q26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21933806[PMID] - - thymidine phosphorylase - TYMP - - Gliostatin - gliostatin - - - gene with protein product - - - - ClinVar - TYMP - - - Ensembl - ENSG00000025708 - - - Genatlas - TYMP - - - HGNC - 3148 - - - OMIM - 131222 - - - Reactome - P19971 - - - SwissProt - P19971 - - - - - 22q13.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 19667227[PMID] - - ribonucleotide reductase regulatory TP53 inducible subunit M2B - RRM2B - - p53R2 - - - gene with protein product - - - - Ensembl - ENSG00000048392 - - - Genatlas - RRM2B - - - HGNC - 17296 - - - IUPHAR - 2754 - - - OMIM - 604712 - - - Reactome - Q7LG56 - - - SwissProt - Q7LG56 - - - ClinVar - RRM2B - - - - - 8q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33855352[PMID] - - DNA ligase 3 - LIG3 - - LIG3alpha - DNA ligase III - - - gene with protein product - - - - Ensembl - ENSG00000005156 - - - OMIM - 600940 - - - SwissProt - P49916 - - - HGNC - 6600 - - - - - 17q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 443236 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443236 - Postural orthostatic tachycardia syndrome due to NET deficiency - - Disease - - - Disorder - - - - 10684912[PMID] - - solute carrier family 6 member 2 - SLC6A2 - - NET - norepinephrine transporter - - - gene with protein product - - - - Ensembl - ENSG00000103546 - - - Genatlas - SLC6A2 - - - HGNC - 11048 - - - IUPHAR - 926 - - - OMIM - 163970 - - - Reactome - P23975 - - - SwissProt - P23975 - - - ClinVar - SLC6A2 - - - - - 16q12.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=552 - MODY - - Disease - - - Disorder - - - - 21989597[PMID] - - ATP binding cassette subfamily C member 8 - ABCC8 - - ABC36 - HHF1 - HI - MRP8 - PHHI - SUR1 - TNDM2 - sulfonylurea receptor (hyperinsulinemia) - - - gene with protein product - - - - ClinVar - ABCC8 - - - Ensembl - ENSG00000006071 - - - Genatlas - ABCC8 - - - HGNC - 59 - - - IUPHAR - 2594 - - - OMIM - 600509 - - - Reactome - Q09428 - - - SwissProt - Q09428 - - - - - 11p15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21844708[PMID] - - carboxyl ester lipase - CEL - - BSSL - MODY8 - bile salt-stimulated lipase - - - gene with protein product - - - - Ensembl - ENSG00000170835 - - - Genatlas - CEL - - - HGNC - 1848 - - - IUPHAR - 2872 - - - ClinVar - CEL - - - OMIM - 114840 - - - Reactome - P19835 - - - SwissProt - P19835 - - - - - 9q34.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21844708[PMID]_22498247[PMID] - - glucokinase - GCK - - HK4 - hexokinase 4 - HKIV - - - gene with protein product - - - - ClinVar - GCK - - - Ensembl - ENSG00000106633 - - - Genatlas - GCK - - - HGNC - 4195 - - - OMIM - 138079 - - - Reactome - P35557 - - - SwissProt - P35557 - - - IUPHAR - 2798 - - - - - 7p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21844708[PMID]_22498247[PMID] - - hepatocyte nuclear factor 4 alpha - HNF4A - - HNF4 - NR2A1 - - - gene with protein product - - - - Genatlas - HNF4A - - - HGNC - 5024 - - - IUPHAR - 608 - - - OMIM - 600281 - - - Reactome - P41235 - - - SwissProt - P41235 - - - ClinVar - HNF4A - - - Ensembl - ENSG00000101076 - - - - - 20q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22701567[PMID] - - potassium inwardly rectifying channel subfamily J member 11 - KCNJ11 - - ATP-sensitive inward rectifier potassium channel 11 - BIR - Kir6.2 - beta-cell inward rectifier - - - gene with protein product - - - - Ensembl - ENSG00000187486 - - - Genatlas - KCNJ11 - - - HGNC - 6257 - - - IUPHAR - 442 - - - OMIM - 600937 - - - Reactome - Q14654 - - - SwissProt - Q14654 - - - ClinVar - KCNJ11 - - - - - 11p15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21844708[PMID] - - KLF transcription factor 11 - KLF11 - - MODY7 - Tieg3 - FKLF - - - gene with protein product - - - - ClinVar - KLF11 - - - Ensembl - ENSG00000172059 - - - Genatlas - KLF11 - - - HGNC - 11811 - - - OMIM - 603301 - - - SwissProt - O14901 - - - - - 2p25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21844708[PMID]_22498247[PMID] - - neuronal differentiation 1 - NEUROD1 - - bHLHa3 - beta-cell E-box transactivator 2 - neurogenic helix-loop-helix protein NEUROD - BETA2 - BHF-1 - MODY6 - NeuroD - - - gene with protein product - - - - Ensembl - ENSG00000162992 - - - Genatlas - NEUROD1 - - - HGNC - 7762 - - - OMIM - 601724 - - - Reactome - Q13562 - - - SwissProt - Q13562 - - - ClinVar - NEUROD1 - - - - - 2q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21844708[PMID]_22498247[PMID] - - pancreatic and duodenal homeobox 1 - PDX1 - - IDX-1 - MODY4 - PDX-1 - STF-1 - somatostatin transcription factor 1 - Glucose-sensitive factor - insulin upstream factor 1 - IUF-1 - Islet/duodenum homeobox-1 - GSF - - - gene with protein product - - - - ClinVar - PDX1 - - - Ensembl - ENSG00000139515 - - - Genatlas - PDX1 - - - HGNC - 6107 - - - OMIM - 600733 - - - Reactome - P52945 - - - SwissProt - P52945 - - - - - 13q12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21844708[PMID]_22498247[PMID] - - HNF1 homeobox A - HNF1A - - HNF1 - LFB1 - HNF1a - HNF1α - - - gene with protein product - - - - ClinVar - HNF1A - - - Genatlas - HNF1A - - - HGNC - 11621 - - - OMIM - 142410 - - - Reactome - P20823 - - - SwissProt - P20823 - - - Ensembl - ENSG00000135100 - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22498247[PMID] - - insulin - INS - - - - gene with protein product - - - - ClinVar - INS - - - Ensembl - ENSG00000254647 - - - Genatlas - INS - - - HGNC - 6081 - - - OMIM - 176730 - - - Reactome - P01308 - - - SwissProt - P01308 - - - - - 11p15.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17426099[PMID]_21263211[PMID]_22521316[PMID]_25041077[PMID] - - paired box 4 - PAX4 - - MODY9 - Paired box protein Pax-4 - - - gene with protein product - - - - ClinVar - PAX4 - - - Ensembl - ENSG00000106331 - - - Genatlas - PAX4 - - - HGNC - 8618 - - - OMIM - 167413 - - - Reactome - O43316 - - - SwissProt - O43316 - - - - - 7q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19667185[PMID] - - BLK proto-oncogene, Src family tyrosine kinase - BLK - - MGC10442 - - - gene with protein product - - - - Ensembl - ENSG00000136573 - - - Genatlas - BLK - - - HGNC - 1057 - - - IUPHAR - 1940 - - - OMIM - 191305 - - - Reactome - P51451 - - - SwissProt - P51451 - - - ClinVar - BLK - - - - - 8p23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26073777[PMID] - - adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 - APPL1 - - APPL - DCC-interacting protein 13-alpha - - - gene with protein product - - - - Ensembl - ENSG00000157500 - - - Genatlas - APPL1 - - - HGNC - 24035 - - - OMIM - 604299 - - - Reactome - Q9UKG1 - - - SwissProt - Q9UKG1 - - - ClinVar - APPL1 - - - - - 3p14.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 443087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443087 - 46,XY difference of sex development due to testicular 17,20-desmolase deficiency - - Disease - - - Disorder - - - - 21802064[PMID] - - aldo-keto reductase family 1 member C2 - AKR1C2 - - BABP - DD - DD2 - HAKRD - MCDR2 - dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III - - - gene with protein product - - - - ClinVar - AKR1C2 - - - Ensembl - ENSG00000151632 - - - Genatlas - AKR1C2 - - - HGNC - 385 - - - OMIM - 600450 - - - Reactome - P52895 - - - SwissProt - P52895 - - - - - 10p15.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 21802064[PMID] - - aldo-keto reductase family 1 member C4 - AKR1C4 - - 3-alpha-HSD - C11 - CDR - DD4 - HAKRA - MGC22581 - chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4 - dihydrodiol dehydrogenase 4 - chlordecone reductase - 3-alpha hydroxysteroid dehydrogenase, type I - - - gene with protein product - - - - ClinVar - AKR1C4 - - - Ensembl - ENSG00000198610 - - - Genatlas - AKR1C4 - - - HGNC - 387 - - - OMIM - 600451 - - - Reactome - P17516 - - - SwissProt - P17516 - - - - - 10p15.1 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - - - 443167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443167 - NUT midline carcinoma - - Disease - - - Disorder - - - - 22017582[PMID] - - NUT midline carcinoma family member 1 - NUTM1 - - DKFZp434O192 - FAM22H - NUT - nuclear protein in testis - - - gene with protein product - - - - Ensembl - ENSG00000184507 - - - Genatlas - NUT - - - HGNC - 29919 - - - OMIM - 608963 - - - SwissProt - Q86Y26 - - - Reactome - Q86Y26 - - - ClinVar - NUT - - - - - 15q14 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 22017582[PMID] - - bromodomain containing 4 - BRD4 - - CAP - HUNK1 - HUNKI - MCAP - chromosome-associated protein - mitotic chromosome-associated protein - FSHRG4 - female sterile homeotic related gene 4 - - - gene with protein product - - - - Ensembl - ENSG00000141867 - - - Genatlas - BRD4 - - - HGNC - 13575 - - - IUPHAR - 1945 - - - OMIM - 608749 - - - SwissProt - O60885 - - - Reactome - O60885 - - - ClinVar - BRD4 - - - - - 19p13.12 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=130 - Brugada syndrome - - Disease - - - Disorder - - - - 20301690[PMID] - - hyperpolarization activated cyclic nucleotide gated potassium channel 4 - HCN4 - - - - gene with protein product - - - - ClinVar - HCN4 - - - Ensembl - ENSG00000138622 - - - Genatlas - HCN4 - - - HGNC - 16882 - - - IUPHAR - 403 - - - OMIM - 605206 - - - Reactome - Q9Y3Q4 - - - SwissProt - Q9Y3Q4 - - - - - 15q24.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 24439875[PMID] - - ATP binding cassette subfamily C member 9 - ABCC9 - - CMD1O - SUR2 - sulfonylurea receptor 2 - - - gene with protein product - - - - ClinVar - ABCC9 - - - Ensembl - ENSG00000069431 - - - Genatlas - ABCC9 - - - HGNC - 60 - - - IUPHAR - 2746 - - - OMIM - 601439 - - - Reactome - O60706 - - - SwissProt - O60706 - - - - - 12p12.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 20301690[PMID] - - calcium voltage-gated channel auxiliary subunit beta 2 - CACNB2 - - - - gene with protein product - - - - Ensembl - ENSG00000165995 - - - Genatlas - CACNB2 - - - HGNC - 1402 - - - OMIM - 600003 - - - Reactome - Q08289 - - - SwissProt - Q08289 - - - ClinVar - CACNB2 - - - - - 10p12 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 20301690[PMID] - - calcium voltage-gated channel subunit alpha1 C - CACNA1C - - CACH2 - CACN2 - Cav1.2 - LQT8 - TS - - - gene with protein product - - - - ClinVar - CACNA1C - - - Ensembl - ENSG00000151067 - - - Genatlas - CACNA1C - - - HGNC - 1390 - - - IUPHAR - 529 - - - OMIM - 114205 - - - Reactome - Q13936 - - - SwissProt - Q13936 - - - - - 12p13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301690[PMID]_20817017[PMID]_17224476[PMID] - - calcium voltage-gated channel auxiliary subunit alpha2delta 1 - CACNA2D1 - - alpha2delta-1 - lncRNA-N3 - - - gene with protein product - - - - Ensembl - ENSG00000153956 - - - Genatlas - CACNA2D1 - - - HGNC - 1399 - - - OMIM - 114204 - - - Reactome - P54289 - - - SwissProt - P54289 - - - ClinVar - CACNA2D1 - - - - - 7q21.11 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 20301690[PMID] - - potassium voltage-gated channel subfamily E regulatory subunit 3 - KCNE3 - - HOKPP - MiRP2 - - - gene with protein product - - - - Ensembl - ENSG00000175538 - - - Genatlas - KCNE3 - - - HGNC - 6243 - - - OMIM - 604433 - - - Reactome - Q9Y6H6 - - - SwissProt - Q9Y6H6 - - - ClinVar - KCNE3 - - - - - 11q13.4 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 20301690[PMID] - - glycerol-3-phosphate dehydrogenase 1 like - GPD1L - - KIAA0089 - - - gene with protein product - - - - Ensembl - ENSG00000152642 - - - Genatlas - GPD1L - - - HGNC - 28956 - - - OMIM - 611778 - - - Reactome - Q8N335 - - - SwissProt - Q8N335 - - - ClinVar - GPD1L - - - - - 3p22.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 21349352[PMID]_20301690[PMID] - - potassium voltage-gated channel subfamily D member 3 - KCND3 - - KSHIVB - Kv4.3 - - - gene with protein product - - - - ClinVar - KCND3 - - - Ensembl - ENSG00000171385 - - - Genatlas - KCND3 - - - HGNC - 6239 - - - IUPHAR - 554 - - - OMIM - 605411 - - - Reactome - Q9UK17 - - - SwissProt - Q9UK17 - - - - - 1p13.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 20301690[PMID] - - sodium voltage-gated channel beta subunit 3 - SCN3B - - HSA243396 - SCNB3 - - - gene with protein product - - - - Ensembl - ENSG00000166257 - - - Genatlas - SCN3B - - - HGNC - 20665 - - - OMIM - 608214 - - - Reactome - Q9NY72 - - - SwissProt - Q9NY72 - - - ClinVar - SCN3B - - - - - 11q24.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 23382873[PMID]_20301690[PMID] - - transient receptor potential cation channel subfamily M member 4 - TRPM4 - - FLJ20041 - - - gene with protein product - - - - ClinVar - TRPM4 - - - Reactome - Q8TD43 - - - SwissProt - Q8TD43 - - - Ensembl - ENSG00000130529 - - - Genatlas - TRPM4 - - - HGNC - 17993 - - - IUPHAR - 496 - - - OMIM - 606936 - - - - - 19q13.33 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 24998131[PMID]_25691538[PMID] - - sodium voltage-gated channel alpha subunit 10 - SCN10A - - Nav1.8 - PN3 - SNS - hPN3 - peripheral nerve sodium channel 3 - sensory neuron sodium channel - - - gene with protein product - - - - Ensembl - ENSG00000185313 - - - Genatlas - SCN10A - - - HGNC - 10582 - - - IUPHAR - 585 - - - OMIM - 604427 - - - Reactome - Q9Y5Y9 - - - SwissProt - Q9Y5Y9 - - - ClinVar - SCN10A - - - - - 3p22.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 20301690[PMID]_23064965[PMID] - - sarcolemma associated protein - SLMAP - - KIAA1601 - SLAP - Sarcolemmal-associated protein - - - gene with protein product - - - - ClinVar - SLMAP - - - OMIM - 602701 - - - SwissProt - Q14BN4 - - - Ensembl - ENSG00000163681 - - - Genatlas - SLMAP - - - HGNC - 16643 - - - Reactome - Q14BN4 - - - - - 3p14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301690[PMID] - - sodium voltage-gated channel beta subunit 1 - SCN1B - - - - gene with protein product - - - - ClinVar - SCN1B - - - Ensembl - ENSG00000105711 - - - Genatlas - SCN1B - - - HGNC - 10586 - - - OMIM - 600235 - - - Reactome - Q07699 - - - SwissProt - Q07699 - - - - - 19q13.11 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 27707468[PMID]_25016126[PMID] - - A-kinase anchoring protein 9 - AKAP9 - - protein phosphatase 1, regulatory subunit 45 - A-kinase anchor protein, 350kDa - A-kinase anchoring protein 450 - AKAP120-like protein - AKAP350 - AKAP450 - AKAP9-BRAF fusion protein - CG-NAP - HYPERION - KIAA0803 - LQT11 - MU-RMS-40.16A - PPP1R45 - PRKA9 - YOTIAO - centrosome- and golgi-localized protein kinase N-associated protein - protein kinase A anchoring protein 9 - yotiao - - - gene with protein product - - - - ClinVar - AKAP9 - - - Ensembl - ENSG00000127914 - - - Genatlas - AKAP9 - - - HGNC - 379 - - - OMIM - 604001 - - - Reactome - Q99996 - - - SwissProt - Q99996 - - - - - 7q21.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 21493962[PMID] - - potassium voltage-gated channel subfamily E regulatory subunit 5 - KCNE5 - - - - gene with protein product - - - - Ensembl - ENSG00000176076 - - - Genatlas - KCNE1L - - - HGNC - 6241 - - - OMIM - 300328 - - - Reactome - Q9UJ90 - - - SwissProt - Q9UJ90 - - - ClinVar - KCNE1L - - - - - Xq23 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 24142675[PMID] - - RAN guanine nucleotide release factor - RANGRF - - MOG1 - RANGNRF - MOG1 homolog (S. cerevisiae) - HSPC165 - HSPC236 - - - gene with protein product - - - - Genatlas - RANGRF - - - OMIM - 607954 - - - HGNC - 17679 - - - Reactome - Q9HD47 - - - Ensembl - ENSG00000108961 - - - ClinVar - RANGRF - - - SwissProt - Q9HD47 - - - - - 17p13.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 20301690[PMID] - - sodium voltage-gated channel alpha subunit 5 - SCN5A - - CDCD2 - CMPD2 - HB1 - HB2 - HBBD - HH1 - ICCD - IVF - LQT3 - Nav1.5 - PFHB1 - SSS1 - long QT syndrome 3 - - - gene with protein product - - - - ClinVar - SCN5A - - - Ensembl - ENSG00000183873 - - - Genatlas - SCN5A - - - HGNC - 10593 - - - IUPHAR - 582 - - - OMIM - 600163 - - - Reactome - Q14524 - - - SwissProt - Q14524 - - - - - 3p22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30821013[PMID] - - sodium channel epithelial 1 subunit alpha - SCNN1A - - amiloride-sensitive sodium channel subunit alpha - ENaCalpha - - - gene with protein product - - - - ClinVar - SCNN1A - - - Genatlas - SCNN1A - - - HGNC - 10599 - - - IUPHAR - 738 - - - OMIM - 600228 - - - Reactome - P37088 - - - SwissProt - P37088 - - - Ensembl - ENSG00000111319 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30821013[PMID] - - semaphorin 3A - SEMA3A - - Coll-1 - Hsema-I - SEMA1 - SemD - Sema III - sema III - coll-1 - - - gene with protein product - - - - Ensembl - ENSG00000075213 - - - Genatlas - SEMA3A - - - HGNC - 10723 - - - OMIM - 603961 - - - Reactome - Q14563 - - - SwissProt - Q14563 - - - ClinVar - SEMA3A - - - - - 7q21.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23559163[PMID]_30821013[PMID] - - sodium voltage-gated channel beta subunit 2 - SCN2B - - - - gene with protein product - - - - Ensembl - ENSG00000149575 - - - Genatlas - SCN2B - - - HGNC - 10589 - - - OMIM - 601327 - - - Reactome - O60939 - - - SwissProt - O60939 - - - ClinVar - SCN2B - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22056721[PMID]_20301690[PMID] - - potassium inwardly rectifying channel subfamily J member 8 - KCNJ8 - - Kir6.1 - - - gene with protein product - - - - Genatlas - KCNJ8 - - - HGNC - 6269 - - - IUPHAR - 441 - - - OMIM - 600935 - - - Reactome - Q15842 - - - SwissProt - Q15842 - - - Ensembl - ENSG00000121361 - - - ClinVar - KCNJ8 - - - - - 12p12.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 27085656[PMID] - - plakophilin 2 - PKP2 - - - - gene with protein product - - - - ClinVar - PKP2 - - - Ensembl - ENSG00000057294 - - - Genatlas - PKP2 - - - HGNC - 9024 - - - OMIM - 602861 - - - SwissProt - Q99959 - - - Reactome - Q99959 - - - - - 12p11.21 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=277 - Severe combined immunodeficiency due to adenosine deaminase deficiency - - Disease - - - Disorder - - - - - - adenosine deaminase - ADA - - ADA1 - - - gene with protein product - - - - ClinVar - ADA - - - Ensembl - ENSG00000196839 - - - Genatlas - ADA - - - HGNC - 186 - - - IUPHAR - 1230 - - - OMIM - 608958 - - - Reactome - P00813 - - - SwissProt - P00813 - - - - - 20q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 443162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443162 - NDE1-related microhydranencephaly - - Malformation syndrome - - - Disorder - - - - 22526350[PMID] - - nudE neurodevelopment protein 1 - NDE1 - - FLJ20101 - NDE - NUDE - nudE - - - gene with protein product - - - - Ensembl - ENSG00000072864 - - - Genatlas - NDE1 - - - HGNC - 17619 - - - OMIM - 609449 - - - Reactome - Q9NXR1 - - - SwissProt - Q9NXR1 - - - ClinVar - NDE1 - - - - - 16p13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 443811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443811 - PGM3-CDG - - Disease - - - Disorder - - - - 24589341[PMID]_24931394[PMID] - - phosphoglucomutase 3 - PGM3 - - AGM1 - DKFZP434B187 - PAGM - acetylglucosamine phosphomutase - phosphoacetylglucosamine mutase - - - gene with protein product - - - - Ensembl - ENSG00000013375 - - - Genatlas - PGM3 - - - HGNC - 8907 - - - OMIM - 172100 - - - Reactome - O95394 - - - SwissProt - O95394 - - - ClinVar - PGM3 - - - - - 6q14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 443950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443950 - DNAJB2-related Charcot-Marie-Tooth disease type 2 - - Disease - - - Disorder - - - - 25274842[PMID] - - DnaJ heat shock protein family (Hsp40) member B2 - DNAJB2 - - CMT2T - HSPF3 - - - gene with protein product - - - - Ensembl - ENSG00000135924 - - - Genatlas - DNAJB2 - - - HGNC - 5228 - - - OMIM - 604139 - - - SwissProt - P25686 - - - ClinVar - DNAJB2 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 443988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443988 - Ventriculomegaly-cystic kidney disease - - Disease - - - Disorder - - - - 25557780[PMID] - - crumbs cell polarity complex component 2 - CRB2 - - FLJ16786 - FLJ38464 - - - gene with protein product - - - - Ensembl - ENSG00000148204 - - - Genatlas - CRB2 - - - HGNC - 18688 - - - OMIM - 609720 - - - SwissProt - Q5IJ48 - - - ClinVar - CRB2 - - - - - 9q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 444092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444092 - Autoimmune interstitial lung disease-arthritis syndrome - - Disease - - - Disorder - - - - 25894502[PMID] - - COPI coat complex subunit alpha - COPA - - HEP-COP - proxenin - xenin - - - gene with protein product - - - - Ensembl - ENSG00000122218 - - - Genatlas - COPA - - - HGNC - 2230 - - - OMIM - 601924 - - - Reactome - P53621 - - - SwissProt - P53621 - - - ClinVar - COPA - - - - - 1q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 444099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444099 - Autosomal dominant spastic paraplegia type 73 - - Disease - - - Disorder - - - - 25751282[PMID] - - carnitine palmitoyltransferase 1C - CPT1C - - CPT1P - CPTIC - FLJ23809 - CATL1 - - - gene with protein product - - - - Ensembl - ENSG00000169169 - - - Genatlas - CPT1C - - - HGNC - 18540 - - - OMIM - 608846 - - - SwissProt - Q8TCG5 - - - ClinVar - CPT1C - - - IUPHAR - 3251 - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 444138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444138 - Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome - - Disease - - - Disorder - - - - 25683118[PMID] - - calpastatin - CAST - - - - gene with protein product - - - - Reactome - P20810 - - - HGNC - 1515 - - - OMIM - 114090 - - - SwissProt - P20810 - - - Ensembl - ENSG00000153113 - - - Genatlas - CAST - - - ClinVar - CAST - - - - - 5q15 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 443995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443995 - Mandibulofacial dysostosis with alopecia - - Malformation syndrome - - - Disorder - - - - 25772936[PMID] - - endothelin receptor type A - EDNRA - - ETA-R - ET-A - hET-AR - - - gene with protein product - - - - Ensembl - ENSG00000151617 - - - Genatlas - EDNRA - - - HGNC - 3179 - - - IUPHAR - 219 - - - OMIM - 131243 - - - Reactome - P25101 - - - SwissProt - P25101 - - - ClinVar - EDNRA - - - - - 4q31.22-q31.23 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 444048 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444048 - 46,XX ovarian dysgenesis-short stature syndrome - - Disease - - - Disorder - - - - 25480036[PMID] - - minichromosome maintenance 9 homologous recombination repair factor - MCM9 - - FLJ20170 - MGC35304 - dJ329L24.3 - - - gene with protein product - - - - Ensembl - ENSG00000111877 - - - Genatlas - MCM9 - - - HGNC - 21484 - - - OMIM - 610098 - - - SwissProt - Q9NXL9 - - - ClinVar - MCM9 - - - - - 6q22.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 444013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444013 - Combined oxidative phosphorylation defect type 23 - - Disease - - - Disorder - - - - 25434004[PMID] - - GTP binding protein 3, mitochondrial - GTPBP3 - - FLJ14700 - GTPBG3 - MSS1 - MTGP1 - THDF1 - - - gene with protein product - - - - Ensembl - ENSG00000130299 - - - Genatlas - GTPBP3 - - - HGNC - 14880 - - - OMIM - 608536 - - - Reactome - Q969Y2 - - - SwissProt - Q969Y2 - - - ClinVar - GTPBP3 - - - - - 19p13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 444069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444069 - Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome - - Malformation syndrome - - - Disorder - - - - 25564561[PMID] - - centromere protein F - CENPF - - hcp-1 - mitosin - - - gene with protein product - - - - Ensembl - ENSG00000117724 - - - Genatlas - CENPF - - - HGNC - 1857 - - - OMIM - 600236 - - - Reactome - P49454 - - - SwissProt - P49454 - - - ClinVar - CENPF - - - - - 1q41 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 444077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444077 - Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome - - Malformation syndrome - - - Disorder - - - - 25730767[PMID] - - ALF transcription elongation factor 4 - AFF4 - - AF5Q31 - ALL1 fused gene from 5q31 - MCEF - - - gene with protein product - - - - Reactome - Q9UHB7 - - - Ensembl - ENSG00000072364 - - - Genatlas - AFF4 - - - HGNC - 17869 - - - OMIM - 604417 - - - SwissProt - Q9UHB7 - - - ClinVar - AFF4 - - - - - 5q31.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 444072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444072 - Cerebellar-facial-dental syndrome - - Malformation syndrome - - - Disorder - - - - 25561519[PMID] - - BRF1 general transcription factor IIIB subunit - BRF1 - - BRF - TFIIIB90 - hBRF - - - gene with protein product - - - - Reactome - Q92994 - - - SwissProt - Q92994 - - - Ensembl - ENSG00000185024 - - - Genatlas - BRF1 - - - HGNC - 11551 - - - OMIM - 604902 - - - ClinVar - BRF1 - - - - - 14q32.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 444463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444463 - Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency - - Disease - - - Disorder - - - - 25414442[PMID] - - tripeptidyl peptidase 2 - TPP2 - - TPPII - - - gene with protein product - - - - Ensembl - ENSG00000134900 - - - Genatlas - TPP2 - - - HGNC - 12016 - - - IUPHAR - 2423 - - - OMIM - 190470 - - - Reactome - P29144 - - - SwissProt - P29144 - - - ClinVar - TPP2 - - - - - 13q33.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 444458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444458 - Combined oxidative phosphorylation defect type 24 - - Disease - - - Disorder - - - - 25385316[PMID] - - asparaginyl-tRNA synthetase 2, mitochondrial - NARS2 - - FLJ23441 - SLM5 - asparagine tRNA ligase 2, mitochondrial (putative) - - - gene with protein product - - - - Ensembl - ENSG00000137513 - - - HGNC - 26274 - - - OMIM - 612803 - - - Reactome - Q96I59 - - - SwissProt - Q96I59 - - - - - 11q14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 445110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445110 - Limb-girdle muscular dystrophy due to POMK deficiency - - Disease - - - Disorder - - - - 24925318[PMID] - - protein O-mannose kinase - POMK - - FLJ23356 - SGK196 - SgK196 - - - gene with protein product - - - - Ensembl - ENSG00000185900 - - - HGNC - 26267 - - - OMIM - 615247 - - - SwissProt - Q9H5K3 - - - Reactome - Q9H5K3 - - - - - 8p11.21 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 445062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445062 - Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome - - Disease - - - Disorder - - - - 25466870[PMID] - - DnaJ heat shock protein family (Hsp40) member C3 - DNAJC3 - - p58(IPK) - endoplasmic reticulum DNA J domain-containing protein 6 - interferon-induced, double-stranded RNA-activated protein kinase inhibitor - protein kinase inhibitor of 58 kDa - ERdj6 - HP58 - P58 - P58IPK - - - gene with protein product - - - - Ensembl - ENSG00000102580 - - - Genatlas - DNAJC3 - - - HGNC - 9439 - - - OMIM - 601184 - - - Reactome - Q13217 - - - SwissProt - Q13217 - - - ClinVar - DNAJC3 - - - - - 13q32.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 445038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445038 - 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome - - Disease - - - Disorder - - - - 25597511[PMID]_25597510[PMID] - - ClpB family mitochondrial disaggregase - CLPB - - FLJ13152 - SKD3 - ankyrin-repeat containing bacterial clp fusion - suppressor of potassium transport defect 3 - ANKCLP - - - gene with protein product - - - - ClinVar - CLPB - - - Ensembl - ENSG00000162129 - - - Genatlas - CLPB - - - HGNC - 30664 - - - OMIM - 616254 - - - SwissProt - Q9H078 - - - - - 11q13.4 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 445018 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445018 - Combined immunodeficiency due to LRBA deficiency - - Disease - - - Disorder - - - - 22608502[PMID]_25468195[PMID] - - LPS responsive beige-like anchor protein - LRBA - - BGL - LAB300 - LBA - uc.147 - - - gene with protein product - - - - ClinVar - LRBA - - - SwissProt - P50851 - - - Ensembl - ENSG00000198589 - - - Genatlas - LRBA - - - HGNC - 1742 - - - OMIM - 606453 - - - - - 4q31.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 447731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447731 - NIK deficiency - - Disease - - - Disorder - - - - 25406581[PMID] - - mitogen-activated protein kinase kinase kinase 14 - MAP3K14 - - FTDCR1B - HS - HSNIK - NIK - serine/threonine protein-kinase - - - gene with protein product - - - - ClinVar - MAP3K14 - - - HGNC - 6853 - - - OMIM - 604655 - - - Genatlas - MAP3K14 - - - SwissProt - Q99558 - - - Reactome - Q99558 - - - Ensembl - ENSG00000006062 - - - IUPHAR - 2074 - - - - - 17q21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 447737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447737 - Combined immunodeficiency due to DOCK2 deficiency - - Disease - - - Disorder - - - - 26083206[PMID] - - dedicator of cytokinesis 2 - DOCK2 - - KIAA0209 - - - gene with protein product - - - - SwissProt - Q92608 - - - Reactome - Q92608 - - - Ensembl - ENSG00000134516 - - - ClinVar - DOCK2 - - - HGNC - 2988 - - - OMIM - 603122 - - - Genatlas - DOCK2 - - - - - 5q35.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 447740 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447740 - Aggressive periodontitis - - Disease - - - Disorder - - - - 19722801[PMID] - - formyl peptide receptor 1 - FPR1 - - FMLP - FPR - N-formylpeptide receptor - fMet-Leu-Phe receptor - - - gene with protein product - - - - HGNC - 3826 - - - OMIM - 136537 - - - Genatlas - FPR1 - - - SwissProt - P21462 - - - Reactome - P21462 - - - Ensembl - ENSG00000171051 - - - IUPHAR - 222 - - - ClinVar - FPR1 - - - - - 19q13.41 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 447877 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447877 - Polymerase proofreading-related polyposis - - Disease - - - Disorder - - - - 23263490[PMID] - - DNA polymerase epsilon, catalytic subunit - POLE - - DNA polymerase epsilon catalytic subunit A - POLE1 - - - gene with protein product - - - - ClinVar - POLE - - - OMIM - 174762 - - - Reactome - Q07864 - - - SwissProt - Q07864 - - - Ensembl - ENSG00000177084 - - - Genatlas - POLE - - - HGNC - 9177 - - - - - 12q24.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23263490[PMID] - - DNA polymerase delta 1, catalytic subunit - POLD1 - - CDC2 - CDC2 homolog (S. cerevisiae) - - - gene with protein product - - - - Ensembl - ENSG00000062822 - - - Genatlas - POLD1 - - - HGNC - 9175 - - - OMIM - 174761 - - - Reactome - P28340 - - - SwissProt - P28340 - - - ClinVar - POLD1 - - - - - 19q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 447896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447896 - Tremor-ataxia-central hypomyelination syndrome - - Clinical subtype - - - Subtype of disorder - - - - 20640464[PMID] - - RNA polymerase III subunit A - POLR3A - - RPC1 - RPC155 - hRPC155 - C160 - - - gene with protein product - - - - ClinVar - POLR3A - - - Ensembl - ENSG00000148606 - - - Genatlas - POLR3A - - - HGNC - 30074 - - - OMIM - 614258 - - - Reactome - O14802 - - - SwissProt - O14802 - - - - - 10q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 447893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447893 - Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome - - Clinical subtype - - - Subtype of disorder - - - - 22036171[PMID] - - RNA polymerase III subunit A - POLR3A - - RPC1 - RPC155 - hRPC155 - C160 - - - gene with protein product - - - - ClinVar - POLR3A - - - Ensembl - ENSG00000148606 - - - Genatlas - POLR3A - - - HGNC - 30074 - - - OMIM - 614258 - - - Reactome - O14802 - - - SwissProt - O14802 - - - - - 10q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 447784 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447784 - Mitochondrial pyruvate carrier deficiency - - Disease - - - Disorder - - - - 22628558[PMID] - - mitochondrial pyruvate carrier 1 - MPC1 - - SLC54A1 - CGI-129 - dJ68L15.3 - - - gene with protein product - - - - ClinVar - MPC1 - - - HGNC - 21606 - - - OMIM - 614738 - - - Genatlas - MPC1 - - - SwissProt - Q9Y5U8 - - - Reactome - Q9Y5U8 - - - Ensembl - ENSG00000060762 - - - IUPHAR - 3022 - - - - - 6q27 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 447757 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447757 - Autosomal dominant spastic paraplegia type 9B - - Disease - - - Disorder - - - - 26026163[PMID] - - aldehyde dehydrogenase 18 family member A1 - ALDH18A1 - - P5CS - delta-1-pyrroline-5-carboxylate synthase - - - gene with protein product - - - - HGNC - 9722 - - - OMIM - 138250 - - - Reactome - P54886 - - - SwissProt - P54886 - - - Ensembl - ENSG00000059573 - - - Genatlas - ALDH18A1 - - - ClinVar - ALDH18A1 - - - - - 10q24.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 447753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447753 - Autosomal dominant spastic paraplegia type 9A - - Disease - - - Disorder - - - - 26026163[PMID]_26297558[PMID] - - aldehyde dehydrogenase 18 family member A1 - ALDH18A1 - - P5CS - delta-1-pyrroline-5-carboxylate synthase - - - gene with protein product - - - - HGNC - 9722 - - - OMIM - 138250 - - - Reactome - P54886 - - - SwissProt - P54886 - - - Ensembl - ENSG00000059573 - - - Genatlas - ALDH18A1 - - - ClinVar - ALDH18A1 - - - - - 10q24.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 447760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447760 - Autosomal recessive spastic paraplegia type 9B - - Disease - - - Disorder - - - - 26026163[PMID] - - aldehyde dehydrogenase 18 family member A1 - ALDH18A1 - - P5CS - delta-1-pyrroline-5-carboxylate synthase - - - gene with protein product - - - - HGNC - 9722 - - - OMIM - 138250 - - - Reactome - P54886 - - - SwissProt - P54886 - - - Ensembl - ENSG00000059573 - - - Genatlas - ALDH18A1 - - - ClinVar - ALDH18A1 - - - - - 10q24.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 412066 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412066 - PRKAR1B-related neurodegenerative dementia with intermediate filaments - - Disease - - - Disorder - - - - 24722252[PMID]_25108559[PMID] - - protein kinase cAMP-dependent type I regulatory subunit beta - PRKAR1B - - - - gene with protein product - - - - IUPHAR - 1473 - - - OMIM - 176911 - - - Reactome - P31321 - - - SwissProt - P31321 - - - Ensembl - ENSG00000188191 - - - Genatlas - PRKAR1B - - - HGNC - 9390 - - - ClinVar - PRKAR1B - - - - - 7p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 412057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412057 - Autosomal recessive cerebellar ataxia due to STUB1 deficiency - - Disease - - - Disorder - - - - 24312598[PMID]_24742043[PMID]_25258038[PMID]_24113144[PMID] - - STIP1 homology and U-box containing protein 1 - STUB1 - - CHIP - HSPABP2 - NY-CO-7 - SDCCAG7 - UBOX1 - - - gene with protein product - - - - IUPHAR - 3202 - - - Ensembl - ENSG00000103266 - - - Genatlas - STUB1 - - - HGNC - 11427 - - - OMIM - 607207 - - - Reactome - Q9UNE7 - - - SwissProt - Q9UNE7 - - - ClinVar - STUB1 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 412181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412181 - Epidermolysis bullosa simplex due to BP230 deficiency - - Disease - - - Disorder - - - - 22113475[PMID] - - dystonin - DST - - BP240 - BPA - CATX-15 - FLJ13425 - FLJ21489 - FLJ30627 - FLJ32235 - KIAA0728 - MACF2 - - - gene with protein product - - - - Ensembl - ENSG00000151914 - - - Genatlas - DST - - - HGNC - 1090 - - - OMIM - 113810 - - - Reactome - Q03001 - - - SwissProt - Q03001 - - - ClinVar - DST - - - - - 6p12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 412069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412069 - AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - 24791903[PMID] - - AT-hook DNA binding motif containing 1 - AHDC1 - - DJ159A19.3 - RP1-159A19.1 - - - gene with protein product - - - - Reactome - Q5TGY3 - - - ClinVar - AHDC1 - - - Ensembl - ENSG00000126705 - - - Genatlas - AHDC1 - - - HGNC - 25230 - - - OMIM - 615790 - - - SwissProt - Q5TGY3 - - - - - 1p36.11-p35.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 412189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412189 - Epidermolysis bullosa simplex due to exophilin 5 deficiency - - Disease - - - Disorder - - - - 23176819[PMID] - - exophilin 5 - EXPH5 - - SLAC2-B - synaptotagmin-like homologue lacking C2 domains b - - - gene with protein product - - - - ClinVar - EXPH5 - - - Ensembl - ENSG00000110723 - - - Genatlas - EXPH5 - - - HGNC - 30578 - - - OMIM - 612878 - - - SwissProt - Q8NEV8 - - - - - 11q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 412206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412206 - Primary failure of tooth eruption - - Disease - - - Disorder - - - - 19061984[PMID]_23910200[PMID]_20830195[PMID] - - parathyroid hormone 1 receptor - PTH1R - - - - gene with protein product - - - - ClinVar - PTH1R - - - Reactome - Q03431 - - - SwissProt - Q03431 - - - Ensembl - ENSG00000160801 - - - Genatlas - PTH1R - - - HGNC - 9608 - - - IUPHAR - 331 - - - OMIM - 168468 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 420179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420179 - Malan overgrowth syndrome - - Malformation syndrome - - - Disorder - - - - 20673863[PMID]_22301465[PMID]_25118028[PMID] - - nuclear factor I X - NFIX - - NF1A - CCAAT-binding transcription factor - - - gene with protein product - - - - ClinVar - NFIX - - - Ensembl - ENSG00000008441 - - - Genatlas - NFIX - - - HGNC - 7788 - - - OMIM - 164005 - - - Reactome - Q14938 - - - SwissProt - Q14938 - - - - - 19p13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 420702 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420702 - Autosomal recessive severe congenital neutropenia due to CSF3R deficiency - - Disease - - - Disorder - - - - 24753537[PMID] - - colony stimulating factor 3 receptor - CSF3R - - G-CSF-R - GCSFR - granulocyte colony-stimulating factor receptor - - - gene with protein product - - - - Reactome - Q99062 - - - Ensembl - ENSG00000119535 - - - Genatlas - CSF3R - - - HGNC - 2439 - - - IUPHAR - 1719 - - - OMIM - 138971 - - - SwissProt - Q99062 - - - ClinVar - CSF3R - - - - - 1p34.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 420728 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420728 - Combined oxidative phosphorylation defect type 20 - - Disease - - - Disorder - - - - 24827421[PMID]_25058219[PMID] - - valyl-tRNA synthetase 2, mitochondrial - VARS2 - - KIAA1885 - valine tRNA ligase 2, mitochondrial - DKFZP434L1435 - G7a - - - gene with protein product - - - - Ensembl - ENSG00000137411 - - - OMIM - 612802 - - - SwissProt - Q5ST30 - - - HGNC - 21642 - - - - - 6p21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 420733 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420733 - Combined oxidative phosphorylation defect type 21 - - Disease - - - Disorder - - - - 24827421[PMID] - - threonyl-tRNA synthetase 2, mitochondrial - TARS2 - - FLJ12528 - threonine tRNA ligase 2, mitochondrial - - - gene with protein product - - - - Ensembl - ENSG00000143374 - - - HGNC - 30740 - - - OMIM - 612805 - - - Reactome - Q9BW92 - - - SwissProt - Q9BW92 - - - ClinVar - TARS2 - - - Genatlas - TARS2 - - - - - 1q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 420741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420741 - RIDDLE syndrome - - Malformation syndrome - - - Disorder - - - - 21394101[PMID]_19203578[PMID] - - ring finger protein 168 - RNF168 - - FLJ35794 - - - gene with protein product - - - - Reactome - Q8IYW5 - - - SwissProt - Q8IYW5 - - - Ensembl - ENSG00000163961 - - - Genatlas - RNF168 - - - HGNC - 26661 - - - OMIM - 612688 - - - ClinVar - RNF168 - - - - - 3q29 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 420492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420492 - Adult-onset cervical dystonia, DYT23 type - - Disease - - - Disorder - - - - 22447717[PMID] - - CDKN1A interacting zinc finger protein 1 - CIZ1 - - LSFR1 - ZNF356 - - - gene with protein product - - - - OMIM - 611420 - - - Ensembl - ENSG00000148337 - - - SwissProt - Q9ULV3 - - - Genatlas - CIZ1 - - - ClinVar - CIZ1 - - - HGNC - 16744 - - - - - 9q34.11 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 420485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420485 - Cranio-cervical dystonia with laryngeal and upper-limb involvement - - Disease - - - Disorder - - - - 23200863[PMID] - - anoctamin 3 - ANO3 - - DYT23 - GENX-3947 - dystonia 23 - transmembrane protein 16C (eight membrane-spanning domains) - - - gene with protein product - - - - Ensembl - ENSG00000134343 - - - Genatlas - ANO3 - - - HGNC - 14004 - - - OMIM - 610110 - - - Reactome - Q9BYT9 - - - SwissProt - Q9BYT9 - - - ClinVar - ANO3 - - - - - 11p14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 420429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420429 - Glycogen storage disease due to acid maltase deficiency, late-onset - - Clinical subtype - - - Subtype of disorder - - - - - - alpha glucosidase - GAA - - Pompe disease - glycogen storage disease type II - - - gene with protein product - - - - ClinVar - GAA - - - Ensembl - ENSG00000171298 - - - Genatlas - GAA - - - HGNC - 4065 - - - IUPHAR - 2611 - - - OMIM - 606800 - - - Reactome - P10253 - - - SwissProt - P10253 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 420611 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420611 - Transient myeloproliferative syndrome - - Disease - - - Disorder - - - - 14636651[PMID] - - GATA binding protein 1 - GATA1 - - ERYF1 - GATA-1 - NF-E1 - NFE1 - nuclear factor, erythroid 1 - - - gene with protein product - - - - ClinVar - GATA1 - - - Ensembl - ENSG00000102145 - - - Genatlas - GATA1 - - - HGNC - 4170 - - - OMIM - 305371 - - - Reactome - P15976 - - - SwissProt - P15976 - - - - - Xp11.23 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 420584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420584 - Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - 24744436[PMID] - - GLI family zinc finger 2 - GLI2 - - HPE9 - THP1 - THP2 - tax helper protein 1 - tax helper protein 2 - tax-responsive element-2 holding protein - - - gene with protein product - - - - Ensembl - ENSG00000074047 - - - Genatlas - GLI2 - - - HGNC - 4318 - - - OMIM - 165230 - - - Reactome - P10070 - - - SwissProt - P10070 - - - ClinVar - GLI2 - - - - - 2q14.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 420699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420699 - Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency - - Disease - - - Disorder - - - - 24777453[PMID] - - C-X-C motif chemokine receptor 2 - CXCR2 - - CD182 - CMKAR2 - - - gene with protein product - - - - ClinVar - CXCR2 - - - Ensembl - ENSG00000180871 - - - Genatlas - CXCR2 - - - HGNC - 6027 - - - IUPHAR - 69 - - - OMIM - 146928 - - - Reactome - P25025 - - - SwissProt - P25025 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 420686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420686 - Woolly hair-palmoplantar keratoderma syndrome - - Disease - - - Disorder - - - - 24671081[PMID] - - KN motif and ankyrin repeat domains 2 - KANK2 - - KIAA1518 - SIP - steroid receptor coactivator interacting protein - - - gene with protein product - - - - Reactome - Q63ZY3 - - - ClinVar - KANK2 - - - Ensembl - ENSG00000197256 - - - Genatlas - KANK2 - - - HGNC - 29300 - - - OMIM - 614610 - - - SwissProt - Q63ZY3 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 420561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420561 - Temple-Baraitser syndrome - - Disease - - - Disorder - - - - 25420144[PMID] - - potassium voltage-gated channel subfamily H member 1 - KCNH1 - - Kv10.1 - eag - eag1 - h-eag - hEAG - ether-a-go-go 1 - K(V)10.1 - - - gene with protein product - - - - ClinVar - KCNH1 - - - Ensembl - ENSG00000143473 - - - Genatlas - KCNH1 - - - HGNC - 6250 - - - IUPHAR - 570 - - - OMIM - 603305 - - - Reactome - O95259 - - - SwissProt - O95259 - - - - - 1q32.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 420573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420573 - Severe combined immunodeficiency due to CTPS1 deficiency - - Disease - - - Disorder - - - - 24870241[PMID] - - CTP synthase 1 - CTPS1 - - GATD5A - GATD5 - - - gene with protein product - - - - IUPHAR - 3215 - - - Genatlas - CTPS1 - - - ClinVar - CTPS1 - - - Ensembl - ENSG00000171793 - - - HGNC - 2519 - - - OMIM - 123860 - - - Reactome - P17812 - - - SwissProt - P17812 - - - - - 1p34.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 420566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420566 - Bleeding disorder due to CalDAG-GEFI deficiency - - Disease - - - Disorder - - - - 24958846[PMID] - - RAS guanyl releasing protein 2 - RASGRP2 - - CALDAG-GEFI - calcium- and diacylglycerol-regulated guanine nucleotide exchange factor I - - - gene with protein product - - - - ClinVar - RASGRP2 - - - HGNC - 9879 - - - OMIM - 605577 - - - Reactome - Q7LDG7 - - - SwissProt - Q7LDG7 - - - Ensembl - ENSG00000068831 - - - Genatlas - RASGRP2 - - - - - 11q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 423461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423461 - Mucolipidosis type III alpha/beta - - Clinical subtype - - - Subtype of disorder - - - - 18425436[PMID] - - N-acetylglucosamine-1-phosphate transferase subunits alpha and beta - GNPTAB - - KIAA1208 - MGC4170 - - - gene with protein product - - - - Reactome - Q3T906 - - - ClinVar - GNPTAB - - - Ensembl - ENSG00000111670 - - - Genatlas - GNPTAB - - - HGNC - 29670 - - - OMIM - 607840 - - - SwissProt - Q3T906 - - - - - 12q23.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 423470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423470 - Mucolipidosis type III gamma - - Clinical subtype - - - Subtype of disorder - - - - 20034096[PMID]_19708128[PMID] - - N-acetylglucosamine-1-phosphate transferase subunit gamma - GNPTG - - CAB56184 - GlcNAc-phosphotransferase gamma-subunit - c316G12.3 - - - gene with protein product - - - - ClinVar - GNPTG - - - Ensembl - ENSG00000090581 - - - Genatlas - GNPTG - - - HGNC - 23026 - - - OMIM - 607838 - - - SwissProt - Q9UJJ9 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 423454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423454 - Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome - - Disease - - - Disorder - - - - 25152456[PMID] - - grainyhead like transcription factor 2 - GRHL2 - - BOM - FLJ13782 - brother-of-MGR - - - gene with protein product - - - - Reactome - Q6ISB3 - - - ClinVar - GRHL2 - - - HGNC - 2799 - - - OMIM - 608576 - - - SwissProt - Q6ISB3 - - - Ensembl - ENSG00000083307 - - - Genatlas - GRHL2 - - - - - 8q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 423384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423384 - Severe congenital neutropenia due to JAGN1 deficiency - - Disease - - - Disorder - - - - 25129144[PMID] - - jagunal homolog 1 - JAGN1 - - FLJ14602 - GL009 - - - gene with protein product - - - - Reactome - Q8N5M9 - - - ClinVar - JAGN1 - - - Ensembl - ENSG00000171135 - - - Genatlas - JAGN1 - - - HGNC - 26926 - - - OMIM - 616012 - - - SwissProt - Q8N5M9 - - - - - 3p25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 423296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423296 - Spinocerebellar ataxia type 38 - - Disease - - - Disorder - - - - 25065913[PMID] - - ELOVL fatty acid elongase 5 - ELOVL5 - - HELO1 - dJ483K16.1 - - - gene with protein product - - - - Ensembl - ENSG00000012660 - - - Genatlas - ELOVL5 - - - HGNC - 21308 - - - OMIM - 611805 - - - Reactome - Q9NYP7 - - - SwissProt - Q9NYP7 - - - ClinVar - ELOVL5 - - - - - 6p12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 423306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423306 - Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - 28620870[PMID] - - glutaminyl-tRNA synthetase 1 - QARS1 - - glutamine tRNA ligase - - - gene with protein product - - - - ClinVar - QARS - - - Ensembl - ENSG00000172053 - - - Genatlas - QARS - - - HGNC - 9751 - - - OMIM - 603727 - - - Reactome - P47897 - - - SwissProt - P47897 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 423479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423479 - X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency - - Disease - - - Disorder - - - - 24961627[PMID] - - phosphoribosyl pyrophosphate synthetase 1 - PRPS1 - - PRS I - ribose-phosphate diphosphokinase 1 - CMTX5 - DFNX1 - PRS-I - PPRibP - - - gene with protein product - - - - ClinVar - PRPS1 - - - Ensembl - ENSG00000147224 - - - Genatlas - PRPS1 - - - HGNC - 9462 - - - OMIM - 311850 - - - Reactome - P60891 - - - SwissProt - P60891 - - - - - Xq22.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 422526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=422526 - Hereditary clear cell renal cell carcinoma - - Disease - - - Disorder - - - - 10987279[PMID] - - 8-oxoguanine DNA glycosylase - OGG1 - - 8-hydroxyguanine DNA glycosylase - HMMH - HOGG1 - MUTM - OGG1 type 1d - OGG1 type 1e - OGG1 type 1g - OGG1 type 1h - OGH1 - - - gene with protein product - - - - SwissProt - O15527 - - - Ensembl - ENSG00000114026 - - - HGNC - 8125 - - - OMIM - 601982 - - - Genatlas - OGG1 - - - Reactome - R-HSA-60887 - - - IUPHAR - 3060 - - - ClinVar - OGG1 - - - - - 3p25.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 11912179[PMID]_11996788[PMID] - - solute carrier family 49 member 4 - SLC49A4 - - disrupted in renal cancer protein 2 - FLJ14784 - RCC4 - renal cell carcinoma 4 - - - gene with protein product - - - - SwissProt - Q96SL1 - - - HGNC - 16628 - - - Ensembl - ENSG00000138463 - - - OMIM - 602773 - - - Genatlas - DIRC2 - - - IUPHAR - 1913 - - - ClinVar - DIRC2 - - - - - 3q21.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 12471204[PMID] - - folliculin - FLCN - - BHD - MGC17998 - MGC23445 - DENND8B - - - gene with protein product - - - - ClinVar - FLCN - - - Ensembl - ENSG00000154803 - - - Genatlas - FLCN - - - HGNC - 27310 - - - OMIM - 607273 - - - SwissProt - Q8NFG4 - - - - - 17p11.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - ring finger protein 139 - RNF139 - - translocation in renal carcinoma, chromosome 8 - HRCA1 - RCA1 - TRC8 - - - gene with protein product - - - - ClinVar - RNF139 - - - Ensembl - ENSG00000170881 - - - Genatlas - RNF139 - - - HGNC - 17023 - - - OMIM - 603046 - - - SwissProt - Q8WU17 - - - Reactome - Q8WU17 - - - - - 8q24.13 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - fragile histidine triad diadenosine triphosphatase - FHIT - - AP3Aase - FRA3B - bis(5'-adenosyl)-triphosphatase - - - gene with protein product - - - - ClinVar - FHIT - - - Ensembl - ENSG00000189283 - - - Genatlas - FHIT - - - HGNC - 3701 - - - OMIM - 601153 - - - SwissProt - P49789 - - - Reactome - P49789 - - - - - 3p14.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 12939738[PMID] - - HSPB1 associated protein 1 - HSPBAP1 - - FLJ22623 - PASS1 - - - gene with protein product - - - - ClinVar - HSPBAP1 - - - SwissProt - Q96EW2 - - - Ensembl - ENSG00000169087 - - - Genatlas - HSPBAP1 - - - HGNC - 16389 - - - OMIM - 608263 - - - - - 3q21.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 12939738[PMID] - - disrupted in renal carcinoma 3 - DIRC3 - - FLJ14199 - - - Non-coding RNA - - - - ClinVar - DIRC3 - - - Ensembl - ENSG00000231672 - - - Genatlas - DIRC3 - - - HGNC - 17805 - - - OMIM - 608262 - - - SwissProt - C9JPN6 - - - - - 2q35 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 423275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423275 - Spinocerebellar ataxia type 40 - - Disease - - - Disorder - - - - 25062847[PMID] - - coiled-coil domain containing 88C - CCDC88C - - DAPLE - Dvl-associating protein with a high frequency of leucine residues - HkRP2 - SCA40 - spinocerebellar ataxia 40 - - - gene with protein product - - - - HGNC - 19967 - - - OMIM - 611204 - - - Reactome - Q9P219 - - - SwissProt - Q9P219 - - - Ensembl - ENSG00000015133 - - - Genatlas - CCDC88C - - - ClinVar - CCDC88C - - - - - 14q32.11-q32.12 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 424107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424107 - Congenital myopathy with myasthenic-like onset - - Disease - - - Disorder - - - - 24951453[PMID] - - ryanodine receptor 1 - RYR1 - - PPP1R137 - RYR - protein phosphatase 1, regulatory subunit 137 - - - gene with protein product - - - - ClinVar - RYR1 - - - Ensembl - ENSG00000196218 - - - Genatlas - RYR1 - - - HGNC - 10483 - - - IUPHAR - 747 - - - OMIM - 180901 - - - Reactome - P21817 - - - SwissProt - P21817 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 424099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424099 - Colobomatous microphthalmia-rhizomelic dysplasia syndrome - - Malformation syndrome - - - Disorder - - - - 24906020[PMID] - - mab-21 like 2 - MAB21L2 - - - - gene with protein product - - - - ClinVar - MAB21L2 - - - Ensembl - ENSG00000181541 - - - Genatlas - MAB21L2 - - - HGNC - 6758 - - - OMIM - 604357 - - - SwissProt - Q9Y586 - - - Reactome - Q9Y586 - - - - - 4q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 424261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424261 - TOR1AIP1-related limb-girdle muscular dystrophy - - Disease - - - Disorder - - - - 24856141[PMID] - - torsin 1A interacting protein 1 - TOR1AIP1 - - FLJ13142 - LAP1B - lamina associated polypeptide 1B - LAP1C - LAP1 - - - gene with protein product - - - - Ensembl - ENSG00000143337 - - - HGNC - 29456 - - - OMIM - 614512 - - - SwissProt - Q5JTV8 - - - Reactome - Q5JTV8 - - - - - 1q25.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 424027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424027 - Progressive myoclonic epilepsy type 8 - - Disease - - - Disorder - - - - 24782409[PMID] - - ceramide synthase 1 - CERS1 - - LAG1 - UOG1 - - - gene with protein product - - - - ClinVar - LASS1 - - - Ensembl - ENSG00000223802 - - - Genatlas - LASS1 - - - HGNC - 14253 - - - IUPHAR - 2474 - - - OMIM - 606919 - - - Reactome - P27544 - - - SwissProt - P27544 - - - - - 19p13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 423894 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423894 - Microcephaly-complex motor and sensory axonal neuropathy syndrome - - Disease - - - Disorder - - - - 24126608[PMID] - - VRK serine/threonine kinase 1 - VRK1 - - - - gene with protein product - - - - Ensembl - ENSG00000100749 - - - Genatlas - VRK1 - - - HGNC - 12718 - - - IUPHAR - 2275 - - - OMIM - 602168 - - - Reactome - Q99986 - - - SwissProt - Q99986 - - - ClinVar - VRK1 - - - - - 14q32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 425120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425120 - STING-associated vasculopathy with onset in infancy - - Disease - - - Disorder - - - - 25029335[PMID] - - stimulator of interferon response cGAMP interactor 1 - STING1 - - MITA - MPYS - stimulator of interferon genes - endoplasmic reticulum IFN stimulator - STING - ERIS - FLJ38577 - NET23 - - - gene with protein product - - - - Ensembl - ENSG00000184584 - - - Genatlas - TMEM173 - - - HGNC - 27962 - - - OMIM - 612374 - - - Reactome - Q86WV6 - - - SwissProt - Q86WV6 - - - IUPHAR - 2902 - - - ClinVar - TMEM173 - - - - - 5q31.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 431361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431361 - Progressive encephalopathy with leukodystrophy due to DECR deficiency - - Disease - - - Disorder - - - - 24847004[PMID] - - NAD kinase 2, mitochondrial - NADK2 - - FLJ30596 - MNADK - mitochondrial NAD kinase - - - gene with protein product - - - - Ensembl - ENSG00000152620 - - - HGNC - 26404 - - - OMIM - 615787 - - - SwissProt - Q4G0N4 - - - Reactome - Q4G0N4 - - - - - 5p13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 431272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431272 - X-linked scapuloperoneal muscular dystrophy - - Disease - - - Disorder - - - - 18179901[PMID] - - four and a half LIM domains 1 - FHL1 - - FHL1B - FLH1A - Four-and-a-half LIM domains 1 - KYO-T - LIM protein SLIMMER - MGC111107 - SLIM1 - XMPMA - bA535K18.1 - - - gene with protein product - - - - Ensembl - ENSG00000022267 - - - Genatlas - FHL1 - - - HGNC - 3702 - - - OMIM - 300163 - - - SwissProt - Q13642 - - - ClinVar - FHL1 - - - Reactome - Q13642 - - - - - Xq26.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 431329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431329 - Autosomal recessive spastic paraplegia type 57 - - Disease - - - Disorder - - - - 23479643[PMID] - - trafficking from ER to golgi regulator - TFG - - FLJ36137 - SPG57 - TF6 - - - gene with protein product - - - - ClinVar - TFG - - - Ensembl - ENSG00000114354 - - - Genatlas - TFG - - - HGNC - 11758 - - - OMIM - 602498 - - - Reactome - Q92734 - - - SwissProt - Q92734 - - - - - 3q12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 431255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431255 - Scapuloperoneal spinal muscular atrophy - - Disease - - - Disorder - - - - 20037587[PMID] - - transient receptor potential cation channel subfamily V member 4 - TRPV4 - - CMT2C - OTRPC4 - TRP12 - VR-OAC - VRL-2 - VROAC - osmosensitive transient receptor potential channel 4 - - - gene with protein product - - - - Ensembl - ENSG00000111199 - - - Genatlas - TRPV4 - - - HGNC - 18083 - - - IUPHAR - 510 - - - OMIM - 605427 - - - Reactome - Q9HBA0 - - - SwissProt - Q9HBA0 - - - ClinVar - TRPV4 - - - - - 12q24.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 431149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431149 - Combined immunodeficiency due to OX40 deficiency - - Disease - - - Disorder - - - - 23897980[PMID] - - TNF receptor superfamily member 4 - TNFRSF4 - - ACT35 - CD134 - OX40 - - - gene with protein product - - - - Ensembl - ENSG00000186827 - - - Genatlas - TNFRSF4 - - - HGNC - 11918 - - - IUPHAR - 1873 - - - OMIM - 600315 - - - Reactome - P43489 - - - SwissProt - P43489 - - - ClinVar - TNFRSF4 - - - - - 1p36.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 431166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431166 - Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection - - Disease - - - Disorder - - - - 26424569[PMID] - - interferon alpha and beta receptor subunit 2 - IFNAR2 - - IFNalpha/beta receptor subunit 2 - type I interferon receptor 2 - interferon alpha/beta receptor 2 - - - gene with protein product - - - - Genatlas - IFNAR2 - - - HGNC - 5433 - - - Ensembl - ENSG00000159110 - - - Reactome - P48551 - - - ClinVar - IFNAR2 - - - IUPHAR - 1724 - - - OMIM - 602376 - - - SwissProt - P48551 - - - - - 21q22.11 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23391734[PMID] - - signal transducer and activator of transcription 2 - STAT2 - - STAT113 - - - gene with protein product - - - - ClinVar - STAT2 - - - Ensembl - ENSG00000170581 - - - Genatlas - STAT2 - - - HGNC - 11363 - - - OMIM - 600556 - - - Reactome - P52630 - - - SwissProt - P52630 - - - - - 12q13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 435438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435438 - Progressive myoclonic epilepsy type 7 - - Disease - - - Disorder - - - - 25401298[PMID] - - potassium voltage-gated channel subfamily C member 1 - KCNC1 - - Kv3.1 - - - gene with protein product - - - - IUPHAR - 548 - - - OMIM - 176258 - - - Reactome - P48547 - - - SwissProt - P48547 - - - ClinVar - KCNC1 - - - Ensembl - ENSG00000129159 - - - Genatlas - KCNC1 - - - HGNC - 6233 - - - - - 11p15.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 435387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435387 - Autosomal dominant Charcot-Marie-Tooth disease type 2Y - - Disease - - - Disorder - - - - 25125609[PMID] - - valosin containing protein - VCP - - CDC48 - p97 - IBMPFD - TERA - transitional endoplasmic reticulum ATPase - - - gene with protein product - - - - ClinVar - VCP - - - Ensembl - ENSG00000165280 - - - Genatlas - VCP - - - HGNC - 12666 - - - OMIM - 601023 - - - Reactome - P55072 - - - SwissProt - P55072 - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 434179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179 - Orofaciodigital syndrome type 14 - - Malformation syndrome - - - Disorder - - - - 24997988[PMID] - - C2 domain containing 3 centriole elongation regulator - C2CD3 - - DKFZP586P0123 - - - gene with protein product - - - - Ensembl - ENSG00000168014 - - - Genatlas - C2CD3 - - - HGNC - 24564 - - - OMIM - 615944 - - - Reactome - Q4AC94 - - - SwissProt - Q4AC94 - - - ClinVar - C2CD3 - - - - - 11q13.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 504476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504476 - Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome - - Disease - - - Disorder - - - - 30926972[PMID] - - replication factor C subunit 1 - RFC1 - - A1 - PO-GA - RFC140 - MHCBFB - - - gene with protein product - - - - HGNC - 9969 - - - Ensembl - ENSG00000035928 - - - SwissProt - P35251 - - - Reactome - P35251 - - - OMIM - 102579 - - - - - 4p14 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 504523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504523 - Severe combined immunodeficiency due to LAT deficiency - - Disease - - - Disorder - - - - 27522155[PMID] - - linker for activation of T cells - LAT - - LAT1 - linker for activation of T cells, transmembrane adaptor - - - gene with protein product - - - - HGNC - 18874 - - - Ensembl - ENSG00000213658 - - - SwissProt - O43561 - - - OMIM - 602354 - - - Genatlas - LAT - - - Reactome - O43561 - - - ClinVar - LAT - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 504530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504530 - Combined immunodeficiency due to Moesin deficiency - - Disease - - - Disorder - - - - 27405666[PMID] - - moesin - MSN - - - - gene with protein product - - - - OMIM - 309845 - - - HGNC - 7373 - - - Reactome - P26038 - - - Genatlas - MSN - - - Ensembl - ENSG00000147065 - - - ClinVar - MSN - - - SwissProt - P26038 - - - - - Xq12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 26793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26793 - Very long chain acyl-CoA dehydrogenase deficiency - - Disease - - - Disorder - - - - 20301763[PMID] - - acyl-CoA dehydrogenase very long chain - ACADVL - - ACAD6 - LCACD - VLCAD - - - gene with protein product - - - - ClinVar - ACADVL - - - Ensembl - ENSG00000072778 - - - Genatlas - ACADVL - - - HGNC - 92 - - - OMIM - 609575 - - - Reactome - P49748 - - - SwissProt - P49748 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 29072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29072 - Hereditary pheochromocytoma-paraganglioma - - Disease - - - Disorder - - - - 29431636[PMID] - - solute carrier family 25 member 11 - SLC25A11 - - OGC - - - gene with protein product - - - - ClinVar - SLC25A11 - - - HGNC - 10981 - - - Ensembl - ENSG00000108528 - - - Reactome - Q02978 - - - SwissProt - Q02978 - - - OMIM - 604165 - - - Genatlas - SLC25A11 - - - IUPHAR - 1053 - - - - - 17p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18334619[PMID] - - kinesin family member 1B - KIF1B - - HMSNII - KIAA0591 - KLP - Charcot-Marie-Tooth neuropathy type II - - - gene with protein product - - - - Reactome - O60333 - - - ClinVar - KIF1B - - - Ensembl - ENSG00000054523 - - - Genatlas - KIF1B - - - HGNC - 16636 - - - OMIM - 605995 - - - SwissProt - O60333 - - - - - 1p36.22 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25766404[PMID] - - malate dehydrogenase 2 - MDH2 - - - - gene with protein product - - - - Genatlas - MDH2 - - - HGNC - 6971 - - - Reactome - P40926 - - - ClinVar - MDH2 - - - Ensembl - ENSG00000146701 - - - SwissProt - P40926 - - - OMIM - 154100 - - - - - 7q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31051110[PMID] - - dihydrolipoamide S-succinyltransferase - DLST - - Dihydrolipoyllysine-residue succinyltransferase - KGD2 - OGDC-E2 - 2-oxoglutarate dehydrogenase complex component E2 - - - gene with protein product - - - - HGNC - 2911 - - - OMIM - 126063 - - - SwissProt - P36957 - - - Ensembl - ENSG00000119689 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23551045[PMID]_24375508[PMID] - - ret proto-oncogene - RET - - CDHF12 - CDHR16 - PTC - RET receptor tyrosine kinase - RET51 - cadherin-related family member 16 - rearranged during transfection - - - gene with protein product - - - - ClinVar - RET - - - Ensembl - ENSG00000165731 - - - Genatlas - RET - - - HGNC - 9967 - - - IUPHAR - 2185 - - - OMIM - 164761 - - - SwissProt - P07949 - - - Reactome - P07949 - - - - - 10q11.21 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 20301715[PMID] - - succinate dehydrogenase complex flavoprotein subunit A - SDHA - - FP - SDHF - flavoprotein subunit of complex II - succinate dehydrogenase [ubiquinone] flavoprotein subunit - - - gene with protein product - - - - ClinVar - SDHA - - - Ensembl - ENSG00000073578 - - - Genatlas - SDHA - - - HGNC - 10680 - - - OMIM - 600857 - - - Reactome - P31040 - - - SwissProt - P31040 - - - - - 5p15.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301715[PMID] - - succinate dehydrogenase complex subunit C - SDHC - - CYB560 - cybL - large subunit of cytochrome b - succinate dehydrgenase cytochrome b - succinate dehydrogenase cytochrome b560 subunit - - - gene with protein product - - - - ClinVar - SDHC - - - Ensembl - ENSG00000143252 - - - Genatlas - SDHC - - - HGNC - 10682 - - - OMIM - 602413 - - - Reactome - Q99643 - - - SwissProt - Q99643 - - - - - 1q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301715[PMID] - - succinate dehydrogenase complex subunit D - SDHD - - cybS - small subunit of cytochrome b - - - gene with protein product - - - - ClinVar - SDHD - - - Ensembl - ENSG00000204370 - - - Genatlas - SDHD - - - HGNC - 10683 - - - OMIM - 602690 - - - Reactome - O14521 - - - SwissProt - O14521 - - - - - 11q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24334767[PMID]_25004247[PMID] - - fumarate hydratase - FH - - fumarase - - - gene with protein product - - - - ClinVar - FH - - - Ensembl - ENSG00000091483 - - - Genatlas - FH - - - HGNC - 3700 - - - OMIM - 136850 - - - Reactome - P07954 - - - SwissProt - P07954 - - - - - 1q43 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301715[PMID] - - succinate dehydrogenase complex iron sulfur subunit B - SDHB - - iron-sulfur subunit of complex II - succinate dehydrogenase [ubiquinone] iron-sulfur subunit - - - gene with protein product - - - - ClinVar - SDHB - - - Reactome - P21912 - - - SwissProt - P21912 - - - Ensembl - ENSG00000117118 - - - Genatlas - SDHB - - - HGNC - 10681 - - - OMIM - 185470 - - - - - 1p36.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21156949[PMID] - - transmembrane protein 127 - TMEM127 - - FLJ20507 - FLJ22257 - - - gene with protein product - - - - Ensembl - ENSG00000135956 - - - Genatlas - TMEM127 - - - HGNC - 26038 - - - OMIM - 613403 - - - SwissProt - O75204 - - - ClinVar - TMEM127 - - - - - 2q11.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 20301715[PMID] - - MYC associated factor X - MAX - - bHLHd4 - bHLHd5 - bHLHd6 - bHLHd7 - bHLHd8 - - - gene with protein product - - - - Ensembl - ENSG00000125952 - - - Genatlas - MAX - - - HGNC - 6913 - - - OMIM - 154950 - - - Reactome - P61244 - - - SwissProt - P61244 - - - ClinVar - MAX - - - - - 14q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30536464[PMID] - - neurofibromin 1 - NF1 - - Watson disease - neurofibromatosis - von Recklinghausen disease - - - gene with protein product - - - - Ensembl - ENSG00000196712 - - - Genatlas - NF1 - - - HGNC - 7765 - - - OMIM - 613113 - - - ClinVar - NF1 - - - Reactome - P21359 - - - SwissProt - P21359 - - - - - 17q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 9215674[PMID]_19574279[PMID] - - von Hippel-Lindau tumor suppressor - VHL - - VHL1 - - - gene with protein product - - - - ClinVar - VHL - - - IUPHAR - 3204 - - - Ensembl - ENSG00000134086 - - - Genatlas - VHL - - - HGNC - 12687 - - - OMIM - 608537 - - - Reactome - P40337 - - - SwissProt - P40337 - - - - - 3p25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301715[PMID] - - succinate dehydrogenase complex assembly factor 2 - SDHAF2 - - FLJ20487 - SDH5 - - - gene with protein product - - - - ClinVar - SDHAF2 - - - Ensembl - ENSG00000167985 - - - Genatlas - SDHAF2 - - - HGNC - 26034 - - - OMIM - 613019 - - - SwissProt - Q9NX18 - - - - - 11q12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 28378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28378 - Tyrosinemia type 2 - - Disease - - - Disorder - - - - 1357662[PMID] - - tyrosine aminotransferase - TAT - - - - gene with protein product - - - - Ensembl - ENSG00000198650 - - - Genatlas - TAT - - - HGNC - 11573 - - - OMIM - 613018 - - - Reactome - P17735 - - - SwissProt - P17735 - - - ClinVar - TAT - - - IUPHAR - 2527 - - - - - 16q22.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 29207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29207 - Reactive arthritis - - Disease - - - Disorder - - - - - - major histocompatibility complex, class I, B - HLA-B - - - - gene with protein product - - - - ClinVar - HLA-B - - - Ensembl - ENSG00000234745 - - - Genatlas - HLA-B - - - HGNC - 4932 - - - OMIM - 142830 - - - SwissProt - P01889 - - - Reactome - P30486 - - - - - 6p21.33 - 1 - - - - - Biomarker tested in - - - Not yet assessed - - - - 33014690[PMID] - - major histocompatibility complex, class I, B - HLA-B - - - - gene with protein product - - - - ClinVar - HLA-B - - - Ensembl - ENSG00000234745 - - - Genatlas - HLA-B - - - HGNC - 4932 - - - OMIM - 142830 - - - SwissProt - P01889 - - - Reactome - P30486 - - - - - 6p21.33 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 29073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29073 - Multiple myeloma - - Disease - - - Disorder - - - - 23502783[PMID] - - cyclin D1 - CCND1 - - B-cell CLL/lymphoma 1 - G1/S-specific cyclin D1 - U21B31 - parathyroid adenomatosis 1 - - - gene with protein product - - - - Ensembl - ENSG00000110092 - - - Genatlas - CCND1 - - - HGNC - 1582 - - - OMIM - 168461 - - - Reactome - P24385 - - - SwissProt - P24385 - - - ClinVar - CCND1 - - - - - 11q13.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320 - Apparent mineralocorticoid excess - - Disease - - - Disorder - - - - 10523339[PMID] - - hydroxysteroid 11-beta dehydrogenase 2 - HSD11B2 - - SDR9C3 - short chain dehydrogenase/reductase family 9C, member 3 - - - gene with protein product - - - - Ensembl - ENSG00000176387 - - - Genatlas - HSD11B2 - - - HGNC - 5209 - - - OMIM - 614232 - - - Reactome - P80365 - - - SwissProt - P80365 - - - ClinVar - HSD11B2 - - - IUPHAR - 3143 - - - - - 16q22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230 - Dopamine beta-hydroxylase deficiency - - Disease - - - Disorder - - - - 20301647[PMID] - - dopamine beta-hydroxylase - DBH - - DBM - dopamine beta-monooxygenase - - - gene with protein product - - - - Ensembl - ENSG00000123454 - - - Genatlas - DBH - - - HGNC - 2689 - - - OMIM - 609312 - - - Reactome - P09172 - - - SwissProt - P09172 - - - ClinVar - DBH - - - IUPHAR - 2486 - - - - - 9q34.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 725 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=725 - Developmental and epileptic encephalopathy with spike-wave activation in sleep - - Disease - - - Disorder - - - - 23933820[PMID]_23933819[PMID]_23933818[PMID] - - glutamate ionotropic receptor NMDA type subunit 2A - GRIN2A - - GluN2A - NR2A - - - gene with protein product - - - - ClinVar - GRIN2A - - - Ensembl - ENSG00000183454 - - - Genatlas - GRIN2A - - - HGNC - 4585 - - - IUPHAR - 456 - - - OMIM - 138253 - - - Reactome - Q12879 - - - SwissProt - Q12879 - - - - - 16p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27239025[PMID] - - ferric chelate reductase 1 like - FRRS1L - - CG-6 - - - gene with protein product - - - - ClinVar - FRRS1L - - - OMIM - 604574 - - - Genatlas - FRRS1L - - - HGNC - 1362 - - - Ensembl - ENSG00000260230 - - - SwissProt - Q9P0K9 - - - - - 9q31.3 - 1 - - - - - Candidate gene tested in - - - Assessed - - - - - - 404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404 - Familial hyperaldosteronism type II - - Disease - - - Disorder - - - - 29403011[PMID] - - chloride voltage-gated channel 2 - CLCN2 - - CLC2 - ClC-2 - EJM6 - - - gene with protein product - - - - Ensembl - ENSG00000114859 - - - Genatlas - CLCN2 - - - HGNC - 2020 - - - IUPHAR - 699 - - - OMIM - 600570 - - - Reactome - P51788 - - - SwissProt - P51788 - - - ClinVar - CLCN2 - - - - - 3q27.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162 - Congenital cataract-anterior segment dysgenesis syndrome - - Malformation syndrome - - - Disorder - - - - 9620774[PMID] - - paired like homeodomain 3 - PITX3 - - - - gene with protein product - - - - Ensembl - ENSG00000107859 - - - Genatlas - PITX3 - - - HGNC - 9006 - - - OMIM - 602669 - - - SwissProt - O75364 - - - ClinVar - PITX3 - - - - - 10q24.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 545 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=545 - Follicular lymphoma - - Disease - - - Disorder - - - - 23953419[PMID]_22684552[PMID] - - BCL2 apoptosis regulator - BCL2 - - Bcl-2 - PPP1R50 - protein phosphatase 1, regulatory subunit 50 - - - gene with protein product - - - - IUPHAR - 2844 - - - ClinVar - BCL2 - - - Ensembl - ENSG00000171791 - - - Genatlas - BCL2 - - - HGNC - 990 - - - OMIM - 151430 - - - Reactome - P10415 - - - SwissProt - P10415 - - - - - 18q21.33 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 23791106[PMID] - - major histocompatibility complex, class II, DR beta 1 - HLA-DRB1 - - - - gene with protein product - - - - ClinVar - HLA-DRB1 - - - Ensembl - ENSG00000196126 - - - Genatlas - HLA-DRB1 - - - HGNC - 4948 - - - OMIM - 142857 - - - Reactome - P04229 - - - SwissProt - P01911 - - - - - 6p21.32 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22968395[PMID] - - BCL6 transcription repressor - BCL6 - - BCL5 - BCL6A - LAZ3 - ZBTB27 - - - gene with protein product - - - - ClinVar - BCL6 - - - Reactome - P41182 - - - IUPHAR - 2957 - - - Ensembl - ENSG00000113916 - - - Genatlas - BCL6 - - - HGNC - 1001 - - - OMIM - 109565 - - - SwissProt - P41182 - - - - - 3q27.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 23953419[PMID] - - immunoglobulin heavy locus - IGH - - - - gene with protein product - - - - OMIM - 146910 - - - OMIM - 147010 - - - ClinVar - IGH@ - - - Ensembl - - - - OMIM - 147070 - - - Genatlas - IGH@ - - - HGNC - 5477 - - - SwissProt - Q6P089 - - - - - 14q32.33 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 88 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88 - Idiopathic aplastic anemia - - Disease - - - Disorder - - - - 17311987[PMID] - - perforin 1 - PRF1 - - HPLH2 - P1 - PFP - Perforin - perforin 1 (preforming protein) - - - gene with protein product - - - - IUPHAR - 3100 - - - Ensembl - ENSG00000180644 - - - Genatlas - PRF1 - - - HGNC - 9360 - - - OMIM - 170280 - - - SwissProt - P14222 - - - ClinVar - PRF1 - - - - - 10q22.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 17478638[PMID] - - SBDS ribosome maturation factor - SBDS - - CGI-97 - FLJ10917 - SDS - SWDS - SDO1 - - - gene with protein product - - - - ClinVar - SBDS - - - Ensembl - ENSG00000126524 - - - Genatlas - SBDS - - - HGNC - 19440 - - - OMIM - 607444 - - - SwissProt - Q9Y3A5 - - - - - 7q11.21 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 15327519[PMID] - - interferon gamma - IFNG - - - - gene with protein product - - - - ClinVar - IFNG - - - Ensembl - ENSG00000111537 - - - Genatlas - IFNG - - - HGNC - 5438 - - - OMIM - 147570 - - - Reactome - P01579 - - - SwissProt - P01579 - - - - - 12q15 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 16627250[PMID]_16990594[PMID] - - telomerase reverse transcriptase - TERT - - EST2 - TCS1 - TP2 - TRT - hEST2 - - - gene with protein product - - - - Ensembl - ENSG00000164362 - - - Genatlas - TERT - - - HGNC - 11730 - - - OMIM - 187270 - - - Reactome - O14746 - - - SwissProt - O14746 - - - ClinVar - TERT - - - - - 5p15.33 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 12090986[PMID] - - telomerase RNA component - TERC - - TER - SCARNA19 - TR - TRC3 - hTR - small Cajal body-specific RNA 19 - - - Non-coding RNA - - - - SwissProt - - - - Ensembl - ENSG00000270141 - - - Genatlas - TERC - - - ClinVar - TERC - - - HGNC - 11727 - - - OMIM - 602322 - - - - - 3q26.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=824 - Primary myelofibrosis - - Disease - - - Disorder - - - - - - Janus kinase 2 - JAK2 - - JTK10 - - - gene with protein product - - - - Ensembl - ENSG00000096968 - - - Genatlas - JAK2 - - - HGNC - 6192 - - - IUPHAR - 2048 - - - OMIM - 147796 - - - Reactome - O60674 - - - SwissProt - O60674 - - - ClinVar - JAK2 - - - - - 9p24.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 16834459[PMID]_16868251[PMID] - - MPL proto-oncogene, thrombopoietin receptor - MPL - - CD110 - TPOR - THPOR - - - gene with protein product - - - - ClinVar - MPL - - - Ensembl - ENSG00000117400 - - - Genatlas - MPL - - - HGNC - 7217 - - - IUPHAR - 1722 - - - OMIM - 159530 - - - Reactome - P40238 - - - SwissProt - P40238 - - - - - 1p34.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 19557078[PMID]_19262601[PMID] - - tet methylcytosine dioxygenase 2 - TET2 - - FLJ20032 - ten-eleven translocation 2 - - - gene with protein product - - - - ClinVar - TET2 - - - Ensembl - ENSG00000168769 - - - Genatlas - TET2 - - - HGNC - 25941 - - - OMIM - 612839 - - - Reactome - Q6N021 - - - SwissProt - Q6N021 - - - - - 4q24 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 24325256[PMID]_24325359[PMID] - - calreticulin - CALR - - calregulin - CALR1 - CRT - FLJ26680 - RO - SSA - Sicca syndrome antigen A (autoantigen Ro; calreticulin) - autoantigen Ro - cC1qR - - - gene with protein product - - - - SwissProt - P27797 - - - Ensembl - ENSG00000179218 - - - Genatlas - CALR - - - HGNC - 1455 - - - OMIM - 109091 - - - Reactome - P27797 - - - ClinVar - CALR - - - - - 19p13.13 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 729 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=729 - Polycythemia vera - - Disease - - - Disorder - - - - - - Janus kinase 2 - JAK2 - - JTK10 - - - gene with protein product - - - - Ensembl - ENSG00000096968 - - - Genatlas - JAK2 - - - HGNC - 6192 - - - IUPHAR - 2048 - - - OMIM - 147796 - - - Reactome - O60674 - - - SwissProt - O60674 - - - ClinVar - JAK2 - - - - - 9p24.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 25980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25980 - X-linked myopathy with excessive autophagy - - Disease - - - Disorder - - - - 23315026[PMID] - - vacuolar ATPase assembly factor VMA21 - VMA21 - - XMEA - - - gene with protein product - - - - ClinVar - VMA21 - - - Ensembl - ENSG00000160131 - - - Genatlas - VMA21 - - - HGNC - 22082 - - - OMIM - 300913 - - - SwissProt - Q3ZAQ7 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 26106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26106 - Hereditary diffuse gastric cancer - - Disease - - - Disorder - - - - 19168852[PMID]_20301318[PMID] - - cadherin 1 - CDH1 - - CD324 - E-Cadherin - uvomorulin - - - gene with protein product - - - - Ensembl - ENSG00000039068 - - - Genatlas - CDH1 - - - HGNC - 1748 - - - OMIM - 192090 - - - Reactome - P12830 - - - SwissProt - P12830 - - - ClinVar - CDH1 - - - - - 16q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25340522[PMID] - - mitogen-activated protein kinase kinase kinase 6 - MAP3K6 - - ASK2 - MAPKKK6 - MEKK6 - apoptosis signal regulating kinase 2 - - - gene with protein product - - - - Reactome - O95382 - - - ClinVar - MAP3K6 - - - Ensembl - ENSG00000142733 - - - Genatlas - MAP3K6 - - - HGNC - 6858 - - - IUPHAR - 2081 - - - OMIM - 604468 - - - SwissProt - O95382 - - - - - 1p36.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 26049741[PMID]_26182300[PMID]_23208944[PMID] - - catenin alpha 1 - CTNNA1 - - alpha-E-catenin - CAP102 - - - gene with protein product - - - - Ensembl - ENSG00000044115 - - - Genatlas - CTNNA1 - - - HGNC - 2509 - - - OMIM - 116805 - - - Reactome - P35221 - - - SwissProt - P35221 - - - ClinVar - CTNNA1 - - - - - 5q31.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 26792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26792 - Short chain acyl-CoA dehydrogenase deficiency - - Disease - - - Disorder - - - - 21938826[PMID] - - acyl-CoA dehydrogenase short chain - ACADS - - ACAD3 - SCAD - - - gene with protein product - - - - ClinVar - ACADS - - - Ensembl - ENSG00000122971 - - - Genatlas - ACADS - - - HGNC - 90 - - - OMIM - 606885 - - - Reactome - P16219 - - - SwissProt - P16219 - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353 - Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 - - Disease - - - Disorder - - - - 20301582[PMID] - - sarcoglycan gamma - SGCG - - 35kD dystrophin-associated glycoprotein - A4 - DAGA4 - DMDA - MGC130048 - Maghrebian myopathy (autosomal recessive) - SCARMD2 - SCG3 - TYPE - gamma sarcoglycan - limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive) - - - gene with protein product - - - - ClinVar - SGCG - - - Ensembl - ENSG00000102683 - - - Genatlas - SGCG - - - HGNC - 10809 - - - OMIM - 608896 - - - SwissProt - Q13326 - - - Reactome - Q13326 - - - - - 13q12.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 219 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=219 - Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 - - Disease - - - Disorder - - - - 20301582[PMID] - - sarcoglycan delta - SGCD - - CMD1L - DAGD - LGMD2F - - - gene with protein product - - - - ClinVar - SGCD - - - Ensembl - ENSG00000170624 - - - Genatlas - SGCD - - - HGNC - 10807 - - - OMIM - 601411 - - - SwissProt - Q92629 - - - - - 5q33.2-q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=119 - Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 - - Disease - - - Disorder - - - - 20301582[PMID] - - sarcoglycan beta - SGCB - - A3b - SGC - - - gene with protein product - - - - ClinVar - SGCB - - - Ensembl - ENSG00000163069 - - - Genatlas - SGCB - - - HGNC - 10806 - - - OMIM - 600900 - - - SwissProt - Q16585 - - - Reactome - Q16585 - - - - - 4q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603 - Distal myopathy, Welander type - - Disease - - - Disorder - - - - 23348830[PMID]_23401021[PMID] - - TIA1 cytotoxic granule associated RNA binding protein - TIA1 - - Nucleolysin TIA-1 isoform p40 - T-cell-restricted intracellular antigen-1 - TIA-1 - nucleolysin TIA-1 isoform p40 - - - gene with protein product - - - - Reactome - P31483 - - - Ensembl - ENSG00000116001 - - - Genatlas - TIA1 - - - HGNC - 11802 - - - OMIM - 603518 - - - SwissProt - P31483 - - - ClinVar - TIA1 - - - - - 2p13.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 29457785[PMID] - - sequestosome 1 - SQSTM1 - - A170 - p60 - p62 - p62B - autophagy receptor p62 - - - gene with protein product - - - - IUPHAR - 3213 - - - Ensembl - ENSG00000161011 - - - Genatlas - SQSTM1 - - - HGNC - 11280 - - - OMIM - 601530 - - - Reactome - Q13501 - - - SwissProt - Q13501 - - - ClinVar - SQSTM1 - - - - - 5q35.3 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 29457785[PMID] - - TIA1 cytotoxic granule associated RNA binding protein - TIA1 - - Nucleolysin TIA-1 isoform p40 - T-cell-restricted intracellular antigen-1 - TIA-1 - nucleolysin TIA-1 isoform p40 - - - gene with protein product - - - - Reactome - P31483 - - - Ensembl - ENSG00000116001 - - - Genatlas - TIA1 - - - HGNC - 11802 - - - OMIM - 603518 - - - SwissProt - P31483 - - - ClinVar - TIA1 - - - - - 2p13.3 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - - - 505227 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505227 - Combined immunodeficiency due to GINS1 deficiency - - Disease - - - Disorder - - - - 28414293[PMID] - - GINS complex subunit 1 - GINS1 - - PSF1 - KIAA0186 - - - gene with protein product - - - - HGNC - 28980 - - - Reactome - Q14691 - - - SwissProt - Q14691 - - - ClinVar - GINS1 - - - Genatlas - GINS1 - - - Ensembl - ENSG00000101003 - - - OMIM - 610608 - - - - - 20p11.21 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 505237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505237 - Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome - - Malformation syndrome - - - Disorder - - - - 28343629[PMID] - - OTU deubiquitinase 6B - OTUD6B - - CGI-77 - DUBA5 - - - gene with protein product - - - - HGNC - 24281 - - - Ensembl - ENSG00000155100 - - - SwissProt - Q8N6M0 - - - OMIM - 612021 - - - Genatlas - OTUD6B - - - ClinVar - OTUD6B - - - - - 8q21.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 - Muscle-eye-brain disease - - Malformation syndrome - - - Disorder - - - - 35863218[PMID]_33816389[PMID] - - CDP-L-ribitol pyrophosphorylase A - CRPPA - - 4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis) - IspD - Nip - Notch1-induced protein - hCG_1745121 - D-ribitol-5-phosphate cytidylyltransferase - notch1-induced protein - - - gene with protein product - - - - ClinVar - ISPD - - - OMIM - 614631 - - - SwissProt - A4D126 - - - Ensembl - ENSG00000214960 - - - Genatlas - ISPD - - - HGNC - 37276 - - - - - 7p21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19067344[PMID] - - LARGE xylosyl- and glucuronyltransferase 1 - LARGE1 - - like-acetylglucosaminyltransferase - KIAA0609 - - - gene with protein product - - - - Reactome - O95461 - - - ClinVar - LARGE - - - Ensembl - ENSG00000133424 - - - Genatlas - LARGE - - - HGNC - 6511 - - - OMIM - 603590 - - - SwissProt - O95461 - - - - - 22q12.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 12788071[PMID] - - protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) - POMGNT1 - - FLJ20277 - LGMD2O - MGAT1.2 - protein O-mannose beta-1,2-N-acetylglucosaminyltransferase - - - gene with protein product - - - - Reactome - Q8WZA1 - - - Ensembl - ENSG00000085998 - - - Genatlas - POMGNT1 - - - HGNC - 19139 - - - OMIM - 606822 - - - SwissProt - Q8WZA1 - - - ClinVar - POMGNT1 - - - - - 1p34.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 19299310[PMID]_17878207[PMID] - - protein O-mannosyltransferase 1 - POMT1 - - LGMD2K - dolichyl-phosphate-mannose-protein mannosyltransferase - - - gene with protein product - - - - Reactome - Q9Y6A1 - - - ClinVar - POMT1 - - - Ensembl - ENSG00000130714 - - - Genatlas - POMT1 - - - HGNC - 9202 - - - OMIM - 607423 - - - SwissProt - Q9Y6A1 - - - - - 9q34.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19299310[PMID]_17878207[PMID] - - protein O-mannosyltransferase 2 - POMT2 - - Dolichyl-phosphate-mannose--protein mannosyltransferase - LGMD2N - - - gene with protein product - - - - Reactome - Q9UKY4 - - - ClinVar - POMT2 - - - Ensembl - ENSG00000009830 - - - Genatlas - POMT2 - - - HGNC - 19743 - - - OMIM - 607439 - - - SwissProt - Q9UKY4 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17878207[PMID] - - fukutin - FKTN - - LGMD2M - Ribitol-5-phosphate transferase - - - gene with protein product - - - - ClinVar - FKTN - - - Ensembl - ENSG00000106692 - - - Genatlas - FKTN - - - HGNC - 3622 - - - OMIM - 607440 - - - SwissProt - O75072 - - - - - 9q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15121789[PMID]_19299310[PMID] - - fukutin related protein - FKRP - - LGMD2I - MDC1C - Ribitol 5-phosphate transferase - FKTR - - - gene with protein product - - - - ClinVar - FKRP - - - OMIM - 606596 - - - SwissProt - Q9H9S5 - - - Ensembl - ENSG00000181027 - - - Genatlas - FKRP - - - HGNC - 17997 - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23453667[PMID] - - beta-1,3-N-acetylgalactosaminyltransferase 2 - B3GALNT2 - - MGC39558 - - - gene with protein product - - - - ClinVar - B3GALNT2 - - - Reactome - Q8NCR0 - - - Ensembl - ENSG00000162885 - - - Genatlas - B3GALNT2 - - - HGNC - 28596 - - - OMIM - 610194 - - - SwissProt - Q8NCR0 - - - - - 1q42.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23768512[PMID] - - GDP-mannose pyrophosphorylase B - GMPPB - - KIAA1851 - mannose-1-phosphate guanyltransferase beta - - - gene with protein product - - - - Ensembl - ENSG00000173540 - - - Genatlas - GMPPB - - - HGNC - 22932 - - - OMIM - 615320 - - - Reactome - Q9Y5P6 - - - SwissProt - Q9Y5P6 - - - ClinVar - GMPPB - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 - Walker-Warburg syndrome - - Disease - - - Disorder - - - - 21625620[PMID] - - collagen type IV alpha 1 chain - COL4A1 - - - - gene with protein product - - - - ClinVar - COL4A1 - - - Ensembl - ENSG00000187498 - - - Genatlas - COL4A1 - - - HGNC - 2202 - - - OMIM - 120130 - - - Reactome - P02462 - - - SwissProt - P02462 - - - - - 13q34 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 19299310[PMID] - - protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) - POMGNT1 - - FLJ20277 - LGMD2O - MGAT1.2 - protein O-mannose beta-1,2-N-acetylglucosaminyltransferase - - - gene with protein product - - - - Reactome - Q8WZA1 - - - Ensembl - ENSG00000085998 - - - Genatlas - POMGNT1 - - - HGNC - 19139 - - - OMIM - 606822 - - - SwissProt - Q8WZA1 - - - ClinVar - POMGNT1 - - - - - 1p34.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19880378[PMID] - - protein O-mannosyltransferase 1 - POMT1 - - LGMD2K - dolichyl-phosphate-mannose-protein mannosyltransferase - - - gene with protein product - - - - Reactome - Q9Y6A1 - - - ClinVar - POMT1 - - - Ensembl - ENSG00000130714 - - - Genatlas - POMT1 - - - HGNC - 9202 - - - OMIM - 607423 - - - SwissProt - Q9Y6A1 - - - - - 9q34.13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 19880378[PMID] - - protein O-mannosyltransferase 2 - POMT2 - - Dolichyl-phosphate-mannose--protein mannosyltransferase - LGMD2N - - - gene with protein product - - - - Reactome - Q9UKY4 - - - ClinVar - POMT2 - - - Ensembl - ENSG00000009830 - - - Genatlas - POMT2 - - - HGNC - 19743 - - - OMIM - 607439 - - - SwissProt - Q9UKY4 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 18177472[PMID]_17878207[PMID] - - fukutin - FKTN - - LGMD2M - Ribitol-5-phosphate transferase - - - gene with protein product - - - - ClinVar - FKTN - - - Ensembl - ENSG00000106692 - - - Genatlas - FKTN - - - HGNC - 3622 - - - OMIM - 607440 - - - SwissProt - O75072 - - - - - 9q31.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20236121[PMID] - - fukutin related protein - FKRP - - LGMD2I - MDC1C - Ribitol 5-phosphate transferase - FKTR - - - gene with protein product - - - - ClinVar - FKRP - - - OMIM - 606596 - - - SwissProt - Q9H9S5 - - - Ensembl - ENSG00000181027 - - - Genatlas - FKRP - - - HGNC - 17997 - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 21727005[PMID]_19299310[PMID] - - LARGE xylosyl- and glucuronyltransferase 1 - LARGE1 - - like-acetylglucosaminyltransferase - KIAA0609 - - - gene with protein product - - - - Reactome - O95461 - - - ClinVar - LARGE - - - Ensembl - ENSG00000133424 - - - Genatlas - LARGE - - - HGNC - 6511 - - - OMIM - 603590 - - - SwissProt - O95461 - - - - - 22q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25934851[PMID] - - dystroglycan 1 - DAG1 - - 156DAG - A3a - AGRNR - DAG - alpha-dystroglycan - beta-dystroglycan - dystrophin-associated glycoprotein-1 - - - gene with protein product - - - - Ensembl - ENSG00000173402 - - - Genatlas - DAG1 - - - HGNC - 2666 - - - OMIM - 128239 - - - Reactome - Q14118 - - - SwissProt - Q14118 - - - ClinVar - DAG1 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22522420[PMID] - - CDP-L-ribitol pyrophosphorylase A - CRPPA - - 4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis) - IspD - Nip - Notch1-induced protein - hCG_1745121 - D-ribitol-5-phosphate cytidylyltransferase - notch1-induced protein - - - gene with protein product - - - - ClinVar - ISPD - - - OMIM - 614631 - - - SwissProt - A4D126 - - - Ensembl - ENSG00000214960 - - - Genatlas - ISPD - - - HGNC - 37276 - - - - - 7p21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22958903[PMID] - - protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) - POMGNT2 - - protein O-mannose beta-1,4-N-acetylglucosaminyltransferase 2 - AGO61 - FLJ14566 - - - gene with protein product - - - - ClinVar - POMGNT2 - - - HGNC - 25902 - - - OMIM - 614828 - - - SwissProt - Q8NAT1 - - - Ensembl - ENSG00000144647 - - - Genatlas - POMGNT2 - - - Reactome - Q8NAT1 - - - - - 3p22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23217329[PMID]_23519211[PMID] - - ribitol xylosyltransferase 1 - RXYLT1 - - HP10481 - - - gene with protein product - - - - Ensembl - ENSG00000118600 - - - Genatlas - TMEM5 - - - HGNC - 13530 - - - OMIM - 605862 - - - SwissProt - Q9Y2B1 - - - ClinVar - TMEM5 - - - Reactome - Q9Y2B1 - - - - - 12q14.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23453667[PMID] - - beta-1,3-N-acetylgalactosaminyltransferase 2 - B3GALNT2 - - MGC39558 - - - gene with protein product - - - - ClinVar - B3GALNT2 - - - Reactome - Q8NCR0 - - - Ensembl - ENSG00000162885 - - - Genatlas - B3GALNT2 - - - HGNC - 28596 - - - OMIM - 610194 - - - SwissProt - Q8NCR0 - - - - - 1q42.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23359570[PMID] - - beta-1,4-glucuronyltransferase 1 - B4GAT1 - - B3GN-T1 - BETA3GNTI - N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase - iGAT - iGNT - iGnT - IGnT - - - gene with protein product - - - - ClinVar - B3GNT1 - - - Ensembl - ENSG00000174684 - - - Genatlas - B3GNT1 - - - HGNC - 15685 - - - OMIM - 605517 - - - Reactome - O43505 - - - SwissProt - O43505 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23519211[PMID] - - protein O-mannose kinase - POMK - - FLJ23356 - SGK196 - SgK196 - - - gene with protein product - - - - Ensembl - ENSG00000185900 - - - HGNC - 26267 - - - OMIM - 615247 - - - SwissProt - Q9H5K3 - - - Reactome - Q9H5K3 - - - - - 8p11.21 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 505216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505216 - 3-methylglutaconic aciduria type 9 - - Disease - - - Disorder - - - - 27573165[PMID] - - translocase of inner mitochondrial membrane 50 - TIMM50 - - TIM50L - TIM50 - - - gene with protein product - - - - HGNC - 23656 - - - Ensembl - ENSG00000105197 - - - SwissProt - Q3ZCQ8 - - - Genatlas - TIMM50 - - - OMIM - 607381 - - - Reactome - Q3ZCQ8 - - - ClinVar - TIMM50 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272 - Congenital muscular dystrophy, Fukuyama type - - Malformation syndrome - - - Disorder - - - - 20301385[PMID] - - fukutin - FKTN - - LGMD2M - Ribitol-5-phosphate transferase - - - gene with protein product - - - - ClinVar - FKTN - - - Ensembl - ENSG00000106692 - - - Genatlas - FKTN - - - HGNC - 3622 - - - OMIM - 607440 - - - SwissProt - O75072 - - - - - 9q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 505208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505208 - 3-methylglutaconic aciduria type 8 - - Disease - - - Disorder - - - - 27208207[PMID]_27696117[PMID] - - HtrA serine peptidase 2 - HTRA2 - - OMI - PARK13 - - - gene with protein product - - - - Reactome - O43464 - - - ClinVar - HTRA2 - - - Ensembl - ENSG00000115317 - - - Genatlas - HTRA2 - - - HGNC - 14348 - - - OMIM - 606441 - - - SwissProt - O43464 - - - - - 2p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 268 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268 - Dysferlin-related limb-girdle muscular dystrophy R2 - - Disease - - - Disorder - - - - 20301582[PMID] - - dysferlin - DYSF - - FER1L1 - fer-1-like family member 1 - - - gene with protein product - - - - Ensembl - ENSG00000135636 - - - Genatlas - DYSF - - - HGNC - 3097 - - - OMIM - 603009 - - - Reactome - O75923 - - - SwissProt - O75923 - - - ClinVar - DYSF - - - - - 2p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600 - Vocal cord and pharyngeal distal myopathy - - Disease - - - Disorder - - - - 19344878[PMID] - - matrin 3 - MATR3 - - KIAA0723 - MGC9105 - VCPDM - - - gene with protein product - - - - ClinVar - MATR3 - - - Reactome - P43243 - - - Ensembl - ENSG00000015479 - - - Genatlas - MATR3 - - - HGNC - 6912 - - - OMIM - 164015 - - - SwissProt - P43243 - - - - - 5q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 505248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505248 - Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders - - Malformation syndrome - - - Disorder - - - - 28013294[PMID] - - VPS33A core subunit of CORVET and HOPS complexes - VPS33A - - - - gene with protein product - - - - HGNC - 18179 - - - Ensembl - ENSG00000139719 - - - SwissProt - Q96AX1 - - - OMIM - 610034 - - - Genatlas - VPS33A - - - ClinVar - VPS33A - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=609 - Tibial muscular dystrophy - - Disease - - - Disorder - - - - 20301498[PMID] - - titin - TTN - - CMH9 - CMPD4 - FLJ32040 - LGMD2J - MYLK5 - TMD - - - gene with protein product - - - - Reactome - Q8WZ42 - - - SwissProt - Q8WZ42 - - - ClinVar - TTN - - - Ensembl - ENSG00000155657 - - - Genatlas - TTN - - - HGNC - 12403 - - - IUPHAR - 2265 - - - OMIM - 188840 - - - - - 2q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=602 - GNE myopathy - - Disease - - - Disorder - - - - 11916006[PMID]_20301439[PMID] - - glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - GNE - - Uae1 - bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase - - - gene with protein product - - - - ClinVar - GNE - - - Ensembl - ENSG00000159921 - - - Genatlas - GNE - - - HGNC - 23657 - - - OMIM - 603824 - - - Reactome - Q9Y223 - - - SwissProt - Q9Y223 - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 505242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505242 - Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome - - Disease - - - Disorder - - - - 28334855[PMID] - - solute carrier family 30 member 9 - SLC30A9 - - GAC63 - GRIP1-dependent nuclear receptor coactivator - HUEL - ZNT9 - - - gene with protein product - - - - HGNC - 1329 - - - Ensembl - ENSG00000014824 - - - SwissProt - Q6PML9 - - - OMIM - 604604 - - - Genatlas - SLC30A9 - - - ClinVar - SLC30A9 - - - IUPHAR - 1129 - - - - - 4p13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 508093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508093 - MEPAN syndrome - - Malformation syndrome - - - Disorder - - - - 27817865[PMID] - - mitochondrial trans-2-enoyl-CoA reductase - MECR - - CGI-63 - ETR1 - FASN2B - mitochondrial 2-enoyl thioester reductase - NRBF1 - nuclear receptor binding factor 1 - - - gene with protein product - - - - HGNC - 19691 - - - Ensembl - ENSG00000116353 - - - OMIM - 608205 - - - SwissProt - Q9BV79 - - - Genatlas - MECR - - - Reactome - Q9BV79 - - - ClinVar - MECR - - - - - 1p35.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 508533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508533 - Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome - - Disease - - - Disorder - - - - 28132690[PMID]_28148688[PMID] - - exostosin like glycosyltransferase 3 - EXTL3 - - botv - glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase - REG receptor - REGR - - - gene with protein product - - - - ClinVar - EXTL3 - - - OMIM - 605744 - - - Genatlas - EXTL3 - - - HGNC - 3518 - - - Ensembl - ENSG00000012232 - - - SwissProt - O43909 - - - Reactome - O43909 - - - - - 8p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 508542 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508542 - Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome - - Disease - - - Disorder - - - - 28115216[PMID] - - Myb like, SWIRM and MPN domains 1 - MYSM1 - - KIAA1915 - - - gene with protein product - - - - Reactome - Q5VVJ2 - - - OMIM - 612176 - - - HGNC - 29401 - - - Genatlas - MYSM1 - - - ClinVar - MYSM1 - - - Ensembl - ENSG00000162601 - - - SwissProt - Q5VVJ2 - - - - - 1p32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 508512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508512 - Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome - - Disease - - - Disorder - - - - 27977684[PMID] - - RecQ mediated genome instability 2 - RMI2 - - BLAP18 - MGC24665 - - - gene with protein product - - - - HGNC - 28349 - - - Ensembl - ENSG00000175643 - - - SwissProt - Q96E14 - - - OMIM - 612426 - - - Genatlas - RMI2 - - - Reactome - Q96E14 - - - ClinVar - RMI2 - - - - - 16p13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30057030[PMID] - - DNA topoisomerase III alpha - TOP3A - - ZGRF7 - zinc finger, GRF-type containing 7 - - - gene with protein product - - - - ClinVar - TOP3A - - - Genatlas - TOP3A - - - Reactome - Q13472 - - - HGNC - 11992 - - - Ensembl - ENSG00000177302 - - - SwissProt - Q13472 - - - OMIM - 601243 - - - - - 17p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 508529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508529 - Intermediate epidermolysis bullosa simplex with cardiomyopathy - - Disease - - - Disorder - - - - 27889062[PMID]_27798626[PMID]_28532758[PMID]_29574966[PMID] - - kelch like family member 24 - KLHL24 - - DRE1 - FLJ20059 - KRIP6 - - - gene with protein product - - - - ClinVar - KLHL24 - - - HGNC - 25947 - - - Ensembl - ENSG00000114796 - - - SwissProt - Q6TFL4 - - - OMIM - 611295 - - - Genatlas - KLHL24 - - - Reactome - Q6TFL4 - - - - - 3q27.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 508523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508523 - Hyperphenylalaninemia due to DNAJC12 deficiency - - Disease - - - Disorder - - - - 28132689[PMID] - - DnaJ heat shock protein family (Hsp40) member C12 - DNAJC12 - - J domain protein 1 - JDP1 - - - gene with protein product - - - - ClinVar - DNAJC12 - - - HGNC - 28908 - - - Ensembl - ENSG00000108176 - - - SwissProt - Q9UKB3 - - - OMIM - 606060 - - - Genatlas - DNAJC12 - - - - - 10q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 508488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508488 - 8q24.3 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - 27804958[PMID] - - poly(U) binding splicing factor 60 - PUF60 - - SIAHBP1 - FIR - RoBPI - Ro ribonucleoprotein binding protein 1 - pyrimidine tract binding splicing factor - siah binding protein 1 - FBP interacting repressor - - - gene with protein product - - - - SwissProt - Q9UHX1 - - - Ensembl - ENSG00000179950 - - - ClinVar - PUF60 - - - Reactome - Q9UHX1 - - - HGNC - 17042 - - - Genatlas - PUF60 - - - OMIM - 604819 - - - - - 8q24.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 508476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508476 - Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome - - Malformation syndrome - - - Disorder - - - - 28081210[PMID] - - hyaluronidase 2 - HYAL2 - - LuCa-2 - LUCA2 - lysosomal hyaluronidase - PH-20 homolog - - - gene with protein product - - - - ClinVar - HYAL2 - - - HGNC - 5321 - - - Ensembl - ENSG00000068001 - - - SwissProt - Q12891 - - - OMIM - 603551 - - - Genatlas - HYAL2 - - - Reactome - Q12891 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Not yet assessed - - - - - - 508501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508501 - Oral-facial-digital syndrome with short stature and brachymesophalangy - - Malformation syndrome - - - Disorder - - - - 27060890[PMID] - - intraflagellar transport 57 - IFT57 - - MHS4R2 - HIPPI - FLJ10147 - - - gene with protein product - - - - Genatlas - IFT57 - - - HGNC - 17367 - - - Reactome - Q9NWB7 - - - ClinVar - IFT57 - - - Ensembl - ENSG00000114446 - - - OMIM - 606621 - - - SwissProt - Q9NWB7 - - - - - 3q13.12-q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 508498 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508498 - Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome - - Malformation syndrome - - - Disorder - - - - 27804958[PMID]_28327570[PMID] - - poly(U) binding splicing factor 60 - PUF60 - - SIAHBP1 - FIR - RoBPI - Ro ribonucleoprotein binding protein 1 - pyrimidine tract binding splicing factor - siah binding protein 1 - FBP interacting repressor - - - gene with protein product - - - - SwissProt - Q9UHX1 - - - Ensembl - ENSG00000179950 - - - ClinVar - PUF60 - - - Reactome - Q9UHX1 - - - HGNC - 17042 - - - Genatlas - PUF60 - - - OMIM - 604819 - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 505652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505652 - CDKL5-deficiency disorder - - Disease - - - Disorder - - - - 22872100[PMID] - - cyclin dependent kinase like 5 - CDKL5 - - CFAP247 - EIEE2 - - - gene with protein product - - - - Reactome - O76039 - - - SwissProt - O76039 - - - Ensembl - ENSG00000008086 - - - Genatlas - CDKL5 - - - HGNC - 11411 - - - IUPHAR - 1986 - - - OMIM - 300203 - - - ClinVar - CDKL5 - - - - - Xp22.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 506334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506334 - Familial steroid-resistant nephrotic syndrome with adrenal insufficiency - - Disease - - - Disorder - - - - 28181337[PMID]_24777844[PMID]_28218265[PMID] - - sphingosine-1-phosphate lyase 1 - SGPL1 - - SPL - - - gene with protein product - - - - SwissProt - O95470 - - - OMIM - 603729 - - - Genatlas - SGPL1 - - - Reactome - O95470 - - - IUPHAR - 2522 - - - ClinVar - SGPL1 - - - HGNC - 10817 - - - Ensembl - ENSG00000166224 - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 506307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506307 - Stromme syndrome - - Malformation syndrome - - - Disorder - - - - 25564561[PMID]_26820108[PMID] - - centromere protein F - CENPF - - hcp-1 - mitosin - - - gene with protein product - - - - Ensembl - ENSG00000117724 - - - Genatlas - CENPF - - - HGNC - 1857 - - - OMIM - 600236 - - - Reactome - P49454 - - - SwissProt - P49454 - - - ClinVar - CENPF - - - - - 1q41 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 506358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506358 - Gabriele-de Vries syndrome - - Malformation syndrome - - - Disorder - - - - 28575647[PMID] - - YY1 transcription factor - YY1 - - INO80S - UCRBP - YIN-YANG-1 - NF-E1 - DELTA - Yin and Yang 1 protein - INO80 complex subunit S - - - gene with protein product - - - - HGNC - 12856 - - - SwissProt - P25490 - - - OMIM - 600013 - - - ClinVar - YY1 - - - Ensembl - ENSG00000100811 - - - Reactome - P25490 - - - Genatlas - YY1 - - - - - 14q32.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 506353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506353 - Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction - - Disease - - - Disorder - - - - 28052917[PMID] - - selenoprotein I - SELENOI - - KIAA1724 - SELI - SEPI - - - gene with protein product - - - - HGNC - 29361 - - - Ensembl - ENSG00000138018 - - - SwissProt - Q9C0D9 - - - OMIM - 607915 - - - Reactome - Q9C0D9 - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 495274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495274 - Charcot-Marie-Tooth disease type 2T - - Disease - - - Disorder - - - - 26991897[PMID] - - membrane metalloendopeptidase - MME - - CALLA - CD10 - enkephalinase - NEP - neprilysin - neutral endopeptidase - - - gene with protein product - - - - HGNC - 7154 - - - OMIM - 120520 - - - Genatlas - MME - - - SwissProt - P08473 - - - Reactome - P08473 - - - Ensembl - ENSG00000196549 - - - IUPHAR - 1611 - - - ClinVar - MME - - - - - 3q25.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 495844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495844 - C11ORF73-related autosomal recessive hypomyelinating leukodystrophy - - Disease - - - Disorder - - - - 26545878[PMID]_28000699[PMID] - - heat shock protein nuclear import factor hikeshi - HIKESHI - - HSPC179 - OPI10 - HSPC138 - - - gene with protein product - - - - Reactome - Q53FT3 - - - HGNC - 26938 - - - SwissProt - Q53FT3 - - - Ensembl - ENSG00000149196 - - - OMIM - 614908 - - - ClinVar - HIKESHI - - - Genatlas - HIKESHI - - - - - 11q14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 495818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495818 - 9q33.3q34.11 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - 26395556[PMID] - - LIM homeobox transcription factor 1 beta - LMX1B - - - - gene with protein product - - - - ClinVar - LMX1B - - - Ensembl - ENSG00000136944 - - - Genatlas - LMX1B - - - HGNC - 6654 - - - OMIM - 602575 - - - SwissProt - O60663 - - - - - 9q33.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 26395556[PMID] - - syntaxin binding protein 1 - STXBP1 - - nSec1 - MUNC18-1 - UNC18 - hUNC18 - rbSec1 - syntaxin-binding protein 1 - - - gene with protein product - - - - ClinVar - STXBP1 - - - Ensembl - ENSG00000136854 - - - Genatlas - STXBP1 - - - HGNC - 11444 - - - OMIM - 602926 - - - Reactome - P61764 - - - SwissProt - P61764 - - - - - 9q34.11 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 495875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495875 - Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - 30487245[PMID] - - mab-21 like 1 - MAB21L1 - - CAGR1 - - - gene with protein product - - - - HGNC - 6757 - - - Ensembl - ENSG00000180660 - - - OMIM - 601280 - - - SwissProt - Q13394 - - - - - 13q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 496641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496641 - Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome - - Malformation syndrome - - - Disorder - - - - 27807845[PMID]_27666374[PMID]_27666370[PMID] - - tubulin folding cofactor D - TBCD - - - - gene with protein product - - - - Genatlas - TBCD - - - OMIM - 604649 - - - SwissProt - Q9BTW9 - - - Reactome - Q9BTW9 - - - HGNC - 11581 - - - ClinVar - TBCD - - - Ensembl - ENSG00000141556 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 496686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496686 - Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome - - Disease - - - Disorder - - - - 27484770[PMID]_27485408[PMID] - - kyphoscoliosis peptidase - KY - - FLJ33207 - - - gene with protein product - - - - ClinVar - KY - - - HGNC - 26576 - - - Ensembl - ENSG00000174611 - - - SwissProt - Q8NBH2 - - - OMIM - 605739 - - - Genatlas - KY - - - - - 3q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 496689 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496689 - Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome - - Disease - - - Disorder - - - - 28488683[PMID] - - kyphoscoliosis peptidase - KY - - FLJ33207 - - - gene with protein product - - - - ClinVar - KY - - - HGNC - 26576 - - - Ensembl - ENSG00000174611 - - - SwissProt - Q8NBH2 - - - OMIM - 605739 - - - Genatlas - KY - - - - - 3q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 496751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496751 - EVEN-plus syndrome - - Malformation syndrome - - - Disorder - - - - 26598328[PMID]_10424819[PMID] - - heat shock protein family A (Hsp70) member 9 - HSPA9 - - GRP75 - PBP74 - mortalin2 - mot-2 - mthsp75 - 75 kDa glucose-regulated protein - Stress-70 protein, mitochondrial - mortalin - - - gene with protein product - - - - Genatlas - HSPA9 - - - HGNC - 5244 - - - OMIM - 600548 - - - Reactome - P38646 - - - SwissProt - P38646 - - - Ensembl - ENSG00000113013 - - - ClinVar - HSPA9 - - - - - 5q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 496756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496756 - Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome - - Disease - - - Disorder - - - - 27666369[PMID] - - tubulin folding cofactor E - TBCE - - KCS1 - pac2 - - - gene with protein product - - - - HGNC - 11582 - - - OMIM - 604934 - - - Reactome - Q15813 - - - SwissProt - Q15813 - - - Genatlas - TBCE - - - Ensembl - ENSG00000284770 - - - ClinVar - TBCE - - - - - 1q42.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 496790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496790 - Ocular anomalies-axonal neuropathy-developmental delay syndrome - - Disease - - - Disorder - - - - 27640307[PMID] - - ATPase family AAA domain containing 3A - ATAD3A - - FLJ10709 - - - gene with protein product - - - - Genatlas - ATAD3A - - - Ensembl - ENSG00000197785 - - - ClinVar - ATAD3A - - - Reactome - Q9NVI7 - - - OMIM - 612316 - - - HGNC - 25567 - - - SwissProt - Q9NVI7 - - - - - 1p36.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 494433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494433 - MIRAGE syndrome - - Disease - - - Disorder - - - - 27182967[PMID] - - sterile alpha motif domain containing 9 - SAMD9 - - FLJ20073 - KIAA2004 - - - gene with protein product - - - - ClinVar - SAMD9 - - - Ensembl - ENSG00000205413 - - - Genatlas - SAMD9 - - - HGNC - 1348 - - - OMIM - 610456 - - - SwissProt - Q5K651 - - - - - 7q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 494439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494439 - Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - 26843489[PMID] - - exosome component 2 - EXOSC2 - - homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4) - hRrp4p - p7 - RRP4 - Rrp4p - - - gene with protein product - - - - ClinVar - EXOSC2 - - - HGNC - 17097 - - - Ensembl - ENSG00000130713 - - - SwissProt - Q13868 - - - OMIM - 602238 - - - Genatlas - EXOSC2 - - - Reactome - Q13868 - - - - - 9q34.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 494444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494444 - DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome - - Disease - - - Disorder - - - - 26912466[PMID]_27808407[PMID] - - diaphanous related formin 1 - DIAPH1 - - LFHL1 - hDIA1 - mDia1 - mammalian diaphanous related formin 1 - - - gene with protein product - - - - Ensembl - ENSG00000131504 - - - Genatlas - DIAPH1 - - - HGNC - 2876 - - - OMIM - 602121 - - - Reactome - O60610 - - - SwissProt - O60610 - - - ClinVar - DIAPH1 - - - - - 5q31.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 494344 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494344 - RERE-related neurodevelopmental syndrome - - Malformation syndrome - - - Disorder - - - - 27087320[PMID] - - arginine-glutamic acid dipeptide repeats - RERE - - ARG - atrophin 2 - ATN2 - ARP - DNB1 - KIAA0458 - - - gene with protein product - - - - Reactome - Q9P2R6 - - - HGNC - 9965 - - - OMIM - 605226 - - - ClinVar - RERE - - - Genatlas - RERE - - - SwissProt - Q9P2R6 - - - Ensembl - ENSG00000142599 - - - - - 1p36.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 494547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494547 - Squamous cell carcinoma of the hypopharynx - - Disease - - - Disorder - - - - 9721831[PMID] - - TNF receptor superfamily member 10b - TNFRSF10B - - CD262 - DR5 - KILLER - TRAIL-R2 - TRICK2A - TRICKB - TRAILR2 - - - gene with protein product - - - - Genatlas - TNFRSF10B - - - HGNC - 11905 - - - SwissProt - O14763 - - - Reactome - O14763 - - - IUPHAR - 1880 - - - Ensembl - ENSG00000120889 - - - OMIM - 603612 - - - ClinVar - TNFRSF10B - - - - - 8p21.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 11801303[PMID] - - phosphatase and tensin homolog - PTEN - - MMAC1 - PTEN1 - TEP1 - mutated in multiple advanced cancers 1 - Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN - - - gene with protein product - - - - IUPHAR - 2497 - - - ClinVar - PTEN - - - HGNC - 9588 - - - OMIM - 601728 - - - Reactome - P60484 - - - SwissProt - P60484 - - - Ensembl - ENSG00000171862 - - - Genatlas - PTEN - - - - - 10q23.31 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 10866301[PMID] - - inhibitor of growth family member 1 - ING1 - - growth inhibitor ING1 - growth inhibitory protein ING1 - inhibitor of growth 1 - p24ING1c - p33 - p33ING1 - p33ING1b - p47 - p47ING1a - tumor suppressor ING1 - - - gene with protein product - - - - ClinVar - ING1 - - - Ensembl - ENSG00000153487 - - - Genatlas - ING1 - - - HGNC - 6062 - - - OMIM - 601566 - - - SwissProt - Q9UK53 - - - Reactome - Q9UK53 - - - - - 13q34 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 494541 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494541 - Childhood-onset benign chorea with striatal involvement - - Disease - - - Disorder - - - - 27058446[PMID]_27058447[PMID] - - phosphodiesterase 10A - PDE10A - - cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A - - - gene with protein product - - - - IUPHAR - 1310 - - - ClinVar - PDE10A - - - Ensembl - ENSG00000112541 - - - SwissProt - Q9Y233 - - - OMIM - 610652 - - - Genatlas - PDE10A - - - Reactome - Q9Y233 - - - HGNC - 8772 - - - - - 6q27 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 494526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494526 - Infantile-onset generalized dyskinesia with orofacial involvement - - Disease - - - Disorder - - - - 27058446[PMID] - - phosphodiesterase 10A - PDE10A - - cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A - - - gene with protein product - - - - IUPHAR - 1310 - - - ClinVar - PDE10A - - - Ensembl - ENSG00000112541 - - - SwissProt - Q9Y233 - - - OMIM - 610652 - - - Genatlas - PDE10A - - - Reactome - Q9Y233 - - - HGNC - 8772 - - - - - 6q27 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 494550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494550 - Squamous cell carcinoma of the larynx - - Disease - - - Disorder - - - - 9721831[PMID] - - TNF receptor superfamily member 10b - TNFRSF10B - - CD262 - DR5 - KILLER - TRAIL-R2 - TRICK2A - TRICKB - TRAILR2 - - - gene with protein product - - - - Genatlas - TNFRSF10B - - - HGNC - 11905 - - - SwissProt - O14763 - - - Reactome - O14763 - - - IUPHAR - 1880 - - - Ensembl - ENSG00000120889 - - - OMIM - 603612 - - - ClinVar - TNFRSF10B - - - - - 8p21.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 11801303[PMID] - - phosphatase and tensin homolog - PTEN - - MMAC1 - PTEN1 - TEP1 - mutated in multiple advanced cancers 1 - Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN - - - gene with protein product - - - - IUPHAR - 2497 - - - ClinVar - PTEN - - - HGNC - 9588 - - - OMIM - 601728 - - - Reactome - P60484 - - - SwissProt - P60484 - - - Ensembl - ENSG00000171862 - - - Genatlas - PTEN - - - - - 10q23.31 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 10866301[PMID] - - inhibitor of growth family member 1 - ING1 - - growth inhibitor ING1 - growth inhibitory protein ING1 - inhibitor of growth 1 - p24ING1c - p33 - p33ING1 - p33ING1b - p47 - p47ING1a - tumor suppressor ING1 - - - gene with protein product - - - - ClinVar - ING1 - - - Ensembl - ENSG00000153487 - - - Genatlas - ING1 - - - HGNC - 6062 - - - OMIM - 601566 - - - SwissProt - Q9UK53 - - - Reactome - Q9UK53 - - - - - 13q34 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 500180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500180 - Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder - - Disease - - - Disorder - - - - 28777933[PMID] - - upstream binding transcription factor - UBTF - - NOR-90 - UBF - UBF1 - UBF2 - - - gene with protein product - - - - ClinVar - UBTF - - - HGNC - 12511 - - - Ensembl - ENSG00000108312 - - - SwissProt - P17480 - - - OMIM - 600673 - - - Genatlas - UBTF - - - Reactome - P17480 - - - - - 17q21.31 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 500188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500188 - X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - 28096187[PMID] - - G protein-coupled receptor associated sorting protein 2 - GPRASP2 - - FLJ37327 - GASP2 - - - gene with protein product - - - - ClinVar - GPRASP2 - - - HGNC - 25169 - - - Ensembl - ENSG00000158301 - - - SwissProt - Q96D09 - - - OMIM - 300969 - - - Genatlas - GPRASP2 - - - Reactome - Q96D09 - - - - - Xq22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 500150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500150 - Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - 27545680[PMID]_27545676[PMID]_27256762[PMID] - - SON DNA and RNA binding protein - SON - - FLJ21099 - DBP-5 - FLJ33914 - BASS1 - KIAA1019 - NREBP - NRE-binding protein - Bax antagonist selected in Saccharomyces 1 - negative regulatory element-binding protein - - - gene with protein product - - - - OMIM - 182465 - - - Genatlas - SON - - - SwissProt - P18583 - - - Ensembl - ENSG00000159140 - - - HGNC - 11183 - - - ClinVar - SON - - - - - 21q22.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 500159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500159 - Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom - - Malformation syndrome - - - Disorder - - - - 28886345[PMID] - - Rac family small GTPase 1 - RAC1 - - Rac-1 - TC-25 - p21-Rac1 - - - gene with protein product - - - - Genatlas - RAC1 - - - SwissProt - P63000 - - - ClinVar - RAC1 - - - Ensembl - ENSG00000136238 - - - Reactome - P63000 - - - HGNC - 9801 - - - OMIM - 602048 - - - - - 7p22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=302 - Inherited epidermodysplasia verruciformis - - Disease - - - Disorder - - - - 12426567[PMID] - - transmembrane channel like 6 - TMC6 - - EVIN1 - LAK-4P - - - gene with protein product - - - - ClinVar - TMC6 - - - Ensembl - ENSG00000141524 - - - Genatlas - TMC6 - - - HGNC - 18021 - - - OMIM - 605828 - - - SwissProt - Q7Z403 - - - Reactome - Q7Z403 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 12426567[PMID] - - transmembrane channel like 8 - TMC8 - - EVIN2 - - - gene with protein product - - - - Ensembl - ENSG00000167895 - - - Genatlas - TMC8 - - - HGNC - 20474 - - - ClinVar - TMC8 - - - OMIM - 605829 - - - SwissProt - Q8IU68 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25981006[PMID] - - interleukin 7 - IL7 - - IL-7 - - - gene with protein product - - - - HGNC - 6023 - - - Ensembl - ENSG00000104432 - - - IUPHAR - 4999 - - - OMIM - 146660 - - - SwissProt - P13232 - - - Reactome - P13232 - - - - - 8q21.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30068544[PMID] - - calcium and integrin binding 1 - CIB1 - - CIB - KIP - SIP2-28 - calmyrin - - - gene with protein product - - - - Reactome - Q99828 - - - Genatlas - CIB1 - - - HGNC - 16920 - - - OMIM - 602293 - - - SwissProt - Q99828 - - - Ensembl - ENSG00000185043 - - - ClinVar - CIB1 - - - - - 15q26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 500166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500166 - SIN3-related intellectual disability syndrome due to a point mutation - - Etiological subtype - - - Subtype of disorder - - - - 27399968[PMID] - - SIN3 transcription regulator family member A - SIN3A - - DKFZP434K2235 - KIAA0700 - - - gene with protein product - - - - OMIM - 607776 - - - SwissProt - Q96ST3 - - - Ensembl - ENSG00000169375 - - - Reactome - Q96ST3 - - - ClinVar - SIN3A - - - Genatlas - SIN3A - - - HGNC - 19353 - - - - - 15q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33811806[PMID] - - SIN3 transcription regulator family member B - SIN3B - - Paired amphipathic helix protein Sin3b - KIAA0700 - - - gene with protein product - - - - HGNC - 19354 - - - Ensembl - ENSG00000127511 - - - OMIM - 607777 - - - SwissProt - O75182 - - - - - 19p13.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 500135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500135 - Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome - - Malformation syndrome - - - Disorder - - - - 28264986[PMID] - - centrosomal protein 55 - CEP55 - - cancer/testis antigen 111 - CT111 - FLJ10540 - - - gene with protein product - - - - ClinVar - CEP55 - - - SwissProt - Q53EZ4 - - - OMIM - 610000 - - - Genatlas - CEP55 - - - Reactome - Q53EZ4 - - - HGNC - 1161 - - - Ensembl - ENSG00000138180 - - - - - 10q23.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 500144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500144 - Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome - - Malformation syndrome - - - Disorder - - - - 28777934[PMID] - - trafficking protein particle complex subunit 12 - TRAPPC12 - - CGI-87 - TTC-15 - - - gene with protein product - - - - ClinVar - TRAPPC12 - - - HGNC - 24284 - - - Ensembl - ENSG00000171853 - - - SwissProt - Q8WVT3 - - - OMIM - 614139 - - - Genatlas - TRAPPC12 - - - Reactome - Q8WVT3 - - - - - 2p25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 500055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500055 - Hao-Fountain syndrome due to 16p13.2 microdeletion - - Etiological subtype - - - Subtype of disorder - - - - 26365382[PMID] - - ubiquitin specific peptidase 7 - USP7 - - - - gene with protein product - - - - HGNC - 12630 - - - SwissProt - Q93009 - - - ClinVar - USP7 - - - OMIM - 602519 - - - Ensembl - ENSG00000187555 - - - Reactome - Q93009 - - - Genatlas - USP7 - - - - - 16p13.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 500095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500095 - Tall stature-intellectual disability-renal anomalies syndrome - - Malformation syndrome - - - Disorder - - - - 27183861[PMID] - - FGF1 intracellular binding protein - FIBP - - FGFIBP - - - gene with protein product - - - - OMIM - 608296 - - - ClinVar - FIBP - - - HGNC - 3705 - - - Ensembl - ENSG00000172500 - - - SwissProt - O43427 - - - Genatlas - FIBP - - - Reactome - O43427 - - - - - 11q13.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 500062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500062 - Infantile-onset periodic fever-panniculitis-dermatosis syndrome - - Disease - - - Disorder - - - - 27686184[PMID]_27559085[PMID]_27523608[PMID] - - OTU deubiquitinase with linear linkage specificity - OTULIN - - FLJ34884 - gumby - ubiquitin thioesterase otulin - - - gene with protein product - - - - HGNC - 25118 - - - Ensembl - ENSG00000154124 - - - SwissProt - Q96BN8 - - - OMIM - 615712 - - - Reactome - Q96BN8 - - - IUPHAR - 2910 - - - - - 5p15.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=123 - Björnstad syndrome - - Disease - - - Disorder - - - - 17314340[PMID]_24172246[PMID]_24236502[PMID] - - BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone - BCS1L - - BCS - BJS - Bjornstad syndrome - GRACILE syndrome - Hs.6719 - h-BCS - - - gene with protein product - - - - Ensembl - ENSG00000074582 - - - Genatlas - BCS1L - - - HGNC - 1020 - - - OMIM - 603647 - - - Reactome - Q9Y276 - - - SwissProt - Q9Y276 - - - ClinVar - BCS1L - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=898 - Wagner disease - - Disease - - - Disorder - - - - 20301747[PMID] - - versican - VCAN - - PG-M - versican proteoglycan - - - gene with protein product - - - - ClinVar - VCAN - - - Ensembl - ENSG00000038427 - - - Genatlas - VCAN - - - HGNC - 2464 - - - OMIM - 118661 - - - Reactome - P13611 - - - SwissProt - P13611 - - - - - 5q14.2-q14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 500478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500478 - Squamous cell carcinoma of the oropharynx - - Disease - - - Disorder - - - - 9721831[PMID] - - TNF receptor superfamily member 10b - TNFRSF10B - - CD262 - DR5 - KILLER - TRAIL-R2 - TRICK2A - TRICKB - TRAILR2 - - - gene with protein product - - - - Genatlas - TNFRSF10B - - - HGNC - 11905 - - - SwissProt - O14763 - - - Reactome - O14763 - - - IUPHAR - 1880 - - - Ensembl - ENSG00000120889 - - - OMIM - 603612 - - - ClinVar - TNFRSF10B - - - - - 8p21.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 11801303[PMID] - - phosphatase and tensin homolog - PTEN - - MMAC1 - PTEN1 - TEP1 - mutated in multiple advanced cancers 1 - Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN - - - gene with protein product - - - - IUPHAR - 2497 - - - ClinVar - PTEN - - - HGNC - 9588 - - - OMIM - 601728 - - - Reactome - P60484 - - - SwissProt - P60484 - - - Ensembl - ENSG00000171862 - - - Genatlas - PTEN - - - - - 10q23.31 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 10866301[PMID] - - inhibitor of growth family member 1 - ING1 - - growth inhibitor ING1 - growth inhibitory protein ING1 - inhibitor of growth 1 - p24ING1c - p33 - p33ING1 - p33ING1b - p47 - p47ING1a - tumor suppressor ING1 - - - gene with protein product - - - - ClinVar - ING1 - - - Ensembl - ENSG00000153487 - - - Genatlas - ING1 - - - HGNC - 6062 - - - OMIM - 601566 - - - SwissProt - Q9UK53 - - - Reactome - Q9UK53 - - - - - 13q34 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505 - Graham Little-Piccardi-Lassueur syndrome - - Disease - - - Disorder - - - - - - major histocompatibility complex, class II, DR alpha - HLA-DRA - - - - gene with protein product - - - - ClinVar - HLA-DRA - - - HGNC - 4947 - - - OMIM - 142860 - - - Reactome - P01903 - - - SwissProt - P01903 - - - Ensembl - ENSG00000204287 - - - Genatlas - HLA-DRA - - - - - 6p21.32 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - 170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=170 - Woolly hair - - Disease - - - Disorder - - - - 21426374[PMID] - - lysophosphatidic acid receptor 6 - LPAR6 - - P2Y5 - - - gene with protein product - - - - Ensembl - ENSG00000139679 - - - Genatlas - P2RY5 - - - HGNC - 15520 - - - IUPHAR - 163 - - - OMIM - 609239 - - - Reactome - P43657 - - - SwissProt - P43657 - - - ClinVar - P2RY5 - - - - - 13q14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21426374[PMID] - - lipase H - LIPH - - LPDLR - PLA1B - mPA-PLA1 - mPA-PLA1alpha - phospholipase A(1) - - - gene with protein product - - - - ClinVar - LIPH - - - Ensembl - ENSG00000163898 - - - Genatlas - LIPH - - - HGNC - 18483 - - - OMIM - 607365 - - - Reactome - Q8WWY8 - - - SwissProt - Q8WWY8 - - - - - 3q27.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20346438[PMID]_21188418[PMID] - - keratin 74 - KRT74 - - K6IRS4 - KRT5C - KRT6IRS4 - - - gene with protein product - - - - Ensembl - ENSG00000170484 - - - Genatlas - KRT74 - - - HGNC - 28929 - - - OMIM - 608248 - - - SwissProt - Q7RTS7 - - - ClinVar - KRT74 - - - Reactome - Q7RTS7 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22592156[PMID] - - keratin 71 - KRT71 - - K6IRS1 - KRT6IRS - KRT6IRS1 - - - gene with protein product - - - - Reactome - Q3SY84 - - - ClinVar - KRT71 - - - Ensembl - ENSG00000139648 - - - Genatlas - KRT71 - - - HGNC - 28927 - - - OMIM - 608245 - - - SwissProt - Q3SY84 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26160856[PMID] - - keratin 25 - KRT25 - - - - gene with protein product - - - - Reactome - Q7Z3Z0 - - - Ensembl - ENSG00000204897 - - - Genatlas - KRT25 - - - HGNC - 30839 - - - OMIM - 616646 - - - SwissProt - Q7Z3Z0 - - - ClinVar - KRT25 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 500548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500548 - Osteosclerotic metaphyseal dysplasia - - Malformation syndrome - - - Disorder - - - - 27829680[PMID] - - leucine rich repeat kinase 1 - LRRK1 - - ROCO1 - RIPK6 - Roco1 - FLJ23119 - KIAA1790 - - - gene with protein product - - - - IUPHAR - 2058 - - - HGNC - 18608 - - - Ensembl - ENSG00000154237 - - - SwissProt - Q38SD2 - - - ClinVar - LRRK1 - - - OMIM - 610986 - - - Genatlas - LRRK1 - - - Reactome - Q38SD2 - - - - - 15q26.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 500533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500533 - Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome - - Disease - - - Disorder - - - - 28688840[PMID]_27170158[PMID] - - STE20 related adaptor alpha - STRADA - - LYK5 - NY-BR-96 - STE20-like pseudokinase - Stlk - STRAD - - - gene with protein product - - - - ClinVar - STRADA - - - HGNC - 30172 - - - Ensembl - ENSG00000266173 - - - SwissProt - Q7RTN6 - - - Genatlas - STRADA - - - Reactome - Q7RTN6 - - - IUPHAR - 2227 - - - OMIM - 608626 - - - - - 17q23.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 500545 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500545 - Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract - - Disease - - - Disorder - - - - 28132692[PMID] - - nucleus accumbens associated 1 - NACC1 - - BEN domain containing 8 - BEND8 - BTBD30 - NAC-1 - NAC1 - - - gene with protein product - - - - HGNC - 20967 - - - Ensembl - ENSG00000160877 - - - SwissProt - Q96RE7 - - - OMIM - 610672 - - - Genatlas - NACC1 - - - Reactome - Q96RE7 - - - ClinVar - NACC1 - - - - - 19p13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 500464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500464 - Squamous cell carcinoma of the nasal cavity and paranasal sinuses - - Disease - - - Disorder - - - - 9721831[PMID] - - TNF receptor superfamily member 10b - TNFRSF10B - - CD262 - DR5 - KILLER - TRAIL-R2 - TRICK2A - TRICKB - TRAILR2 - - - gene with protein product - - - - Genatlas - TNFRSF10B - - - HGNC - 11905 - - - SwissProt - O14763 - - - Reactome - O14763 - - - IUPHAR - 1880 - - - Ensembl - ENSG00000120889 - - - OMIM - 603612 - - - ClinVar - TNFRSF10B - - - - - 8p21.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 11801303[PMID] - - phosphatase and tensin homolog - PTEN - - MMAC1 - PTEN1 - TEP1 - mutated in multiple advanced cancers 1 - Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN - - - gene with protein product - - - - IUPHAR - 2497 - - - ClinVar - PTEN - - - HGNC - 9588 - - - OMIM - 601728 - - - Reactome - P60484 - - - SwissProt - P60484 - - - Ensembl - ENSG00000171862 - - - Genatlas - PTEN - - - - - 10q23.31 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 10866301[PMID] - - inhibitor of growth family member 1 - ING1 - - growth inhibitor ING1 - growth inhibitory protein ING1 - inhibitor of growth 1 - p24ING1c - p33 - p33ING1 - p33ING1b - p47 - p47ING1a - tumor suppressor ING1 - - - gene with protein product - - - - ClinVar - ING1 - - - Ensembl - ENSG00000153487 - - - Genatlas - ING1 - - - HGNC - 6062 - - - OMIM - 601566 - - - SwissProt - Q9UK53 - - - Reactome - Q9UK53 - - - - - 13q34 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 520 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=520 - Acute promyelocytic leukemia - - Disease - - - Disorder - - - - 10942371[PMID] - - PML nuclear body scaffold - PML - - MYL - RNF71 - TRIM19 - - - gene with protein product - - - - Genatlas - PML - - - HGNC - 9113 - - - OMIM - 102578 - - - Reactome - P29590 - - - SwissProt - P29590 - - - Ensembl - ENSG00000140464 - - - ClinVar - PML - - - - - 15q24.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 17712046[PMID] - - protein kinase cAMP-dependent type I regulatory subunit alpha - PRKAR1A - - CNC1 - Carney complex type 1 - - - gene with protein product - - - - Ensembl - ENSG00000108946 - - - Genatlas - PRKAR1A - - - HGNC - 9388 - - - IUPHAR - 1472 - - - OMIM - 188830 - - - Reactome - P10644 - - - SwissProt - P10644 - - - ClinVar - PRKAR1A - - - - - 17q24.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 10942371[PMID] - - retinoic acid receptor alpha - RARA - - NR1B1 - RAR - RARalpha - RAR-alpha - - - gene with protein product - - - - ClinVar - RARA - - - Ensembl - ENSG00000131759 - - - Genatlas - RARA - - - HGNC - 9864 - - - IUPHAR - 590 - - - OMIM - 180240 - - - Reactome - P10276 - - - SwissProt - P10276 - - - - - 17q21.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 18221386[PMID] - - signal transducer and activator of transcription 5B - STAT5B - - - - gene with protein product - - - - Ensembl - ENSG00000173757 - - - Genatlas - STAT5B - - - HGNC - 11367 - - - OMIM - 604260 - - - Reactome - P51692 - - - SwissProt - P51692 - - - ClinVar - STAT5B - - - - - 17q21.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 18603554[PMID] - - factor interacting with PAPOLA and CPSF1 - FIP1L1 - - DKFZp586K0717 - FIP1 - hFip1 - - - gene with protein product - - - - ClinVar - FIP1L1 - - - Ensembl - ENSG00000145216 - - - Genatlas - FIP1L1 - - - HGNC - 19124 - - - OMIM - 607686 - - - Reactome - Q6UN15 - - - SwissProt - Q6UN15 - - - - - 4q12 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - nucleophosmin 1 - NPM1 - - B23 - NPM - Nucleophosmin/nucleoplasmin family, member 1 - Numatrin - nucleolar phosphoprotein B23 - numatrin - nucleophosmin/nucleoplasmin family, member 1 - - - gene with protein product - - - - Ensembl - ENSG00000181163 - - - Genatlas - NPM1 - - - HGNC - 7910 - - - OMIM - 164040 - - - Reactome - P06748 - - - SwissProt - P06748 - - - ClinVar - NPM1 - - - - - 5q35.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 23287866[PMID] - - nucleic acid binding protein 1 - NABP1 - - DKFZp667M1322 - FLJ13624 - FLJ22833 - MGC111163 - SOSS-B2 - SSB2 - hSSB2 - sensor of single-strand DNA complex subunit B2 - single-stranded DNA-binding protein 2 - - - gene with protein product - - - - Reactome - Q96AH0 - - - ClinVar - NABP1 - - - Ensembl - ENSG00000173559 - - - Genatlas - NABP1 - - - HGNC - 26232 - - - OMIM - 612103 - - - SwissProt - Q96AH0 - - - - - 2q32.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 8387545[PMID]_10942371[PMID] - - zinc finger and BTB domain containing 16 - ZBTB16 - - PLZF - promyelocytic leukaemia zinc finger - - - gene with protein product - - - - Ensembl - ENSG00000109906 - - - Genatlas - ZBTB16 - - - HGNC - 12930 - - - OMIM - 176797 - - - Reactome - Q05516 - - - SwissProt - Q05516 - - - ClinVar - ZBTB16 - - - - - 11q23.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 9288109[PMID] - - nuclear mitotic apparatus protein 1 - NUMA1 - - NUMA - - - gene with protein product - - - - Ensembl - ENSG00000137497 - - - Genatlas - NUMA1 - - - HGNC - 8059 - - - OMIM - 164009 - - - Reactome - Q14980 - - - SwissProt - Q14980 - - - ClinVar - NUMA1 - - - - - 11q13.4 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 24782508[PMID] - - TBL1X/Y related 1 - TBL1XR1 - - C21 - DC42 - FLJ12894 - IRA1 - TBLR1 - F-box-like/WD repeat-containing protein TBL1XR1 - TBL1-related protein - - - gene with protein product - - - - Ensembl - ENSG00000177565 - - - Genatlas - TBL1XR1 - - - HGNC - 29529 - - - OMIM - 608628 - - - Reactome - Q9BZK7 - - - SwissProt - Q9BZK7 - - - ClinVar - TBL1XR1 - - - - - 3q26.32 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 25583766[PMID]_27193600[PMID] - - interferon regulatory factor 2 binding protein 2 - IRF2BP2 - - LRIR2 - IRF-2BP2 - - - gene with protein product - - - - HGNC - 21729 - - - Ensembl - ENSG00000168264 - - - SwissProt - Q7Z5L9 - - - Reactome - Q7Z5L9 - - - OMIM - 615332 - - - - - 1q42.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 29237593[PMID] - - signal transducer and activator of transcription 3 - STAT3 - - APRF - - - gene with protein product - - - - Ensembl - ENSG00000168610 - - - Genatlas - STAT3 - - - HGNC - 11364 - - - OMIM - 102582 - - - Reactome - P40763 - - - SwissProt - P40763 - - - IUPHAR - 2994 - - - ClinVar - STAT3 - - - - - 17q21.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 20807888[PMID]_25790901[PMID] - - BCL6 corepressor - BCOR - - BCL-6 coreceptor - BCL6 interacting corepressor - FLJ20285 - KIAA1575 - - - gene with protein product - - - - Reactome - Q6W2J9 - - - ClinVar - BCOR - - - Genatlas - BCOR - - - HGNC - 20893 - - - OMIM - 300485 - - - SwissProt - Q6W2J9 - - - Ensembl - ENSG00000183337 - - - - - Xp11.4 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 502363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502363 - Squamous cell carcinoma of the oral cavity - - Disease - - - Disorder - - - - 9721831[PMID] - - TNF receptor superfamily member 10b - TNFRSF10B - - CD262 - DR5 - KILLER - TRAIL-R2 - TRICK2A - TRICKB - TRAILR2 - - - gene with protein product - - - - Genatlas - TNFRSF10B - - - HGNC - 11905 - - - SwissProt - O14763 - - - Reactome - O14763 - - - IUPHAR - 1880 - - - Ensembl - ENSG00000120889 - - - OMIM - 603612 - - - ClinVar - TNFRSF10B - - - - - 8p21.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 11801303[PMID] - - phosphatase and tensin homolog - PTEN - - MMAC1 - PTEN1 - TEP1 - mutated in multiple advanced cancers 1 - Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN - - - gene with protein product - - - - IUPHAR - 2497 - - - ClinVar - PTEN - - - HGNC - 9588 - - - OMIM - 601728 - - - Reactome - P60484 - - - SwissProt - P60484 - - - Ensembl - ENSG00000171862 - - - Genatlas - PTEN - - - - - 10q23.31 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 10866301[PMID] - - inhibitor of growth family member 1 - ING1 - - growth inhibitor ING1 - growth inhibitory protein ING1 - inhibitor of growth 1 - p24ING1c - p33 - p33ING1 - p33ING1b - p47 - p47ING1a - tumor suppressor ING1 - - - gene with protein product - - - - ClinVar - ING1 - - - Ensembl - ENSG00000153487 - - - Genatlas - ING1 - - - HGNC - 6062 - - - OMIM - 601566 - - - SwissProt - Q9UK53 - - - Reactome - Q9UK53 - - - - - 13q34 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 502366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502366 - Squamous cell carcinoma of the lip - - Disease - - - Disorder - - - - 9721831[PMID] - - TNF receptor superfamily member 10b - TNFRSF10B - - CD262 - DR5 - KILLER - TRAIL-R2 - TRICK2A - TRICKB - TRAILR2 - - - gene with protein product - - - - Genatlas - TNFRSF10B - - - HGNC - 11905 - - - SwissProt - O14763 - - - Reactome - O14763 - - - IUPHAR - 1880 - - - Ensembl - ENSG00000120889 - - - OMIM - 603612 - - - ClinVar - TNFRSF10B - - - - - 8p21.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 11801303[PMID] - - phosphatase and tensin homolog - PTEN - - MMAC1 - PTEN1 - TEP1 - mutated in multiple advanced cancers 1 - Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN - - - gene with protein product - - - - IUPHAR - 2497 - - - ClinVar - PTEN - - - HGNC - 9588 - - - OMIM - 601728 - - - Reactome - P60484 - - - SwissProt - P60484 - - - Ensembl - ENSG00000171862 - - - Genatlas - PTEN - - - - - 10q23.31 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 10866301[PMID] - - inhibitor of growth family member 1 - ING1 - - growth inhibitor ING1 - growth inhibitory protein ING1 - inhibitor of growth 1 - p24ING1c - p33 - p33ING1 - p33ING1b - p47 - p47ING1a - tumor suppressor ING1 - - - gene with protein product - - - - ClinVar - ING1 - - - Ensembl - ENSG00000153487 - - - Genatlas - ING1 - - - HGNC - 6062 - - - OMIM - 601566 - - - SwissProt - Q9UK53 - - - Reactome - Q9UK53 - - - - - 13q34 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 502423 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502423 - Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome - - Disease - - - Disorder - - - - 28544275[PMID] - - misato mitochondrial distribution and morphology regulator 1 - MSTO1 - - FLJ10504 - LST005 - misato - MST - - - gene with protein product - - - - ClinVar - MSTO1 - - - HGNC - 29678 - - - Ensembl - ENSG00000125459 - - - SwissProt - Q9BUK6 - - - OMIM - 617619 - - - Genatlas - MSTO1 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 502430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502430 - Weiss-Kruszka Syndrome - - Malformation syndrome - - - Disorder - - - - 28513610[PMID] - - zinc finger protein 462 - ZNF462 - - DKFZP762N2316 - KIAA1803 - Zfp462 - - - gene with protein product - - - - ClinVar - ZNF462 - - - HGNC - 21684 - - - Ensembl - ENSG00000148143 - - - SwissProt - Q96JM2 - - - OMIM - 617371 - - - Genatlas - ZNF462 - - - Reactome - Q96JM2 - - - - - 9q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 502434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502434 - STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome - - Malformation syndrome - - - Disorder - - - - 28119487[PMID] - - STAG1 cohesin complex component - STAG1 - - SA-1 - SA1 - SCC3A - cohesin subunit SA-1 - sister chromatid cohesion 3 homolog (S. cerevisiae) A - - - gene with protein product - - - - Genatlas - STAG1 - - - OMIM - 604358 - - - SwissProt - Q8WVM7 - - - Ensembl - ENSG00000118007 - - - Reactome - Q8WVM7 - - - HGNC - 11354 - - - ClinVar - STAG1 - - - - - 3q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 502444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502444 - Alkaline ceramidase 3 deficiency - - Disease - - - Disorder - - - - 26792856[PMID] - - alkaline ceramidase 3 - ACER3 - - alkaline phytoceramidase - APHC - FLJ11238 - - - gene with protein product - - - - HGNC - 16066 - - - Ensembl - ENSG00000078124 - - - SwissProt - Q9NUN7 - - - OMIM - 617036 - - - Genatlas - ACER3 - - - Reactome - Q9NUN7 - - - ClinVar - ACER3 - - - IUPHAR - 2470 - - - - - 11q13.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=432 - Normosmic congenital hypogonadotropic hypogonadism - - Clinical subtype - - - Subtype of disorder - - - - 35066646[PMID] - - nescient helix-loop-helix 2 - NHLH2 - - bHLHa34 - NSCL2 - - - gene with protein product - - - - HGNC - 7818 - - - OMIM - 162361 - - - SwissProt - Q02577 - - - Ensembl - ENSG00000177551 - - - - - 1p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17959774[PMID]_18682503[PMID] - - prokineticin 2 - PROK2 - - BV8 - KAL4 - MIT1 - PK2 - protein Bv8 homolog - - - gene with protein product - - - - ClinVar - PROK2 - - - Ensembl - ENSG00000163421 - - - Genatlas - PROK2 - - - HGNC - 18455 - - - OMIM - 607002 - - - Reactome - Q9HC23 - - - SwissProt - Q9HC23 - - - - - 3p13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 18682503[PMID] - - prokineticin receptor 2 - PROKR2 - - GPR73b - GPRg2 - PKR2 - dJ680N4.3 - - - gene with protein product - - - - ClinVar - PROKR2 - - - Ensembl - ENSG00000101292 - - - Genatlas - PROKR2 - - - HGNC - 15836 - - - IUPHAR - 336 - - - OMIM - 607123 - - - Reactome - Q8NFJ6 - - - SwissProt - Q8NFJ6 - - - - - 20p12.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 18834967[PMID] - - chromodomain helicase DNA binding protein 7 - CHD7 - - FLJ20357 - FLJ20361 - KIAA1416 - - - gene with protein product - - - - Ensembl - ENSG00000171316 - - - Genatlas - CHD7 - - - HGNC - 20626 - - - OMIM - 608892 - - - SwissProt - Q9P2D1 - - - ClinVar - CHD7 - - - - - 8q12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17235395[PMID] - - fibroblast growth factor receptor 1 - FGFR1 - - BFGFR - CD331 - CEK - FLG - H2 - H3 - H4 - H5 - N-SAM - Pfeiffer syndrome - - - gene with protein product - - - - Ensembl - ENSG00000077782 - - - Genatlas - FGFR1 - - - HGNC - 3688 - - - IUPHAR - 1808 - - - OMIM - 136350 - - - Reactome - P11362 - - - SwissProt - P11362 - - - ClinVar - FGFR1 - - - - - 8p11.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22918878[PMID] - - gonadotropin releasing hormone receptor - GNRHR - - LHRHR - - - gene with protein product - - - - ClinVar - GNRHR - - - OMIM - 138850 - - - Reactome - P30968 - - - SwissProt - P30968 - - - Ensembl - ENSG00000109163 - - - Genatlas - GNRHR - - - HGNC - 4421 - - - IUPHAR - 256 - - - - - 4q13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 21193544[PMID] - - KISS1 receptor - KISS1R - - AXOR12 - HOT7T175 - - - gene with protein product - - - - ClinVar - KISS1R - - - Ensembl - ENSG00000116014 - - - Genatlas - KISS1R - - - HGNC - 4510 - - - IUPHAR - 266 - - - OMIM - 604161 - - - Reactome - Q969F8 - - - SwissProt - Q969F8 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - NMDA receptor synaptonuclear signaling and neuronal migration factor - NSMF - - - - gene with protein product - - - - Ensembl - ENSG00000165802 - - - Genatlas - NELF - - - HGNC - 29843 - - - OMIM - 608137 - - - SwissProt - Q6X4W1 - - - ClinVar - NELF - - - - - 9q34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20887715[PMID]_20389089[PMID] - - gonadotropin releasing hormone 1 - GNRH1 - - progonadoliberin-1 - - - gene with protein product - - - - ClinVar - GNRH1 - - - Ensembl - ENSG00000147437 - - - Genatlas - GNRH1 - - - HGNC - 4419 - - - OMIM - 152760 - - - Reactome - P01148 - - - SwissProt - P01148 - - - - - 8p21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18596921[PMID]_20463092[PMID] - - fibroblast growth factor 8 - FGF8 - - AIGF - androgen-induced growth factor - - - gene with protein product - - - - SwissProt - P55075 - - - Ensembl - ENSG00000107831 - - - Genatlas - FGF8 - - - HGNC - 3686 - - - OMIM - 600483 - - - Reactome - P55075 - - - ClinVar - FGF8 - - - - - 10q24.32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 19079066[PMID] - - tachykinin precursor 3 - TAC3 - - NKB - ZNEUROK1 - preprotachykinin-B - LncZBTB39-1:2 - LncZBTB39 - NK3 - - - gene with protein product - - - - Ensembl - ENSG00000166863 - - - Genatlas - TAC3 - - - HGNC - 11521 - - - OMIM - 162330 - - - Reactome - Q9UHF0 - - - SwissProt - Q9UHF0 - - - ClinVar - TAC3 - - - - - 12q13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 19079066[PMID] - - tachykinin receptor 3 - TACR3 - - neuromedin-K receptor - NK3R - neurokinin beta receptor - NK3 - NK3 receptor - NKR - TAC3R - neurokinin B receptor - - - gene with protein product - - - - Ensembl - ENSG00000169836 - - - Genatlas - TACR3 - - - HGNC - 11528 - - - IUPHAR - 362 - - - OMIM - 162332 - - - Reactome - P29371 - - - SwissProt - P29371 - - - ClinVar - TACR3 - - - - - 4q24 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20887964[PMID] - - WD repeat domain 11 - WDR11 - - DR11 - FLJ10506 - HH14 - KIAA1351 - WDR15 - SRI1 - sensitization to ricin complex subunit 1 - - - gene with protein product - - - - Ensembl - ENSG00000120008 - - - Genatlas - WDR11 - - - HGNC - 13831 - - - OMIM - 606417 - - - SwissProt - Q9BZH6 - - - ClinVar - WDR11 - - - - - 10q26.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21700882[PMID] - - heparan sulfate 6-O-sulfotransferase 1 - HS6ST1 - - - - gene with protein product - - - - ClinVar - HS6ST1 - - - Ensembl - ENSG00000136720 - - - Genatlas - HS6ST1 - - - HGNC - 5201 - - - OMIM - 604846 - - - Reactome - O60243 - - - SwissProt - O60243 - - - - - 2q14.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22335740[PMID] - - KiSS-1 metastasis suppressor - KISS1 - - kisspeptin - prepro-kisspeptin - - - gene with protein product - - - - Ensembl - ENSG00000170498 - - - Genatlas - KISS1 - - - HGNC - 6341 - - - OMIM - 603286 - - - Reactome - Q15726 - - - SwissProt - Q15726 - - - ClinVar - KISS1 - - - - - 1q32.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23643382[PMID] - - fibroblast growth factor 17 - FGF17 - - FGF-13 - - - gene with protein product - - - - ClinVar - FGF17 - - - Genatlas - FGF17 - - - HGNC - 3673 - - - OMIM - 603725 - - - Reactome - O60258 - - - SwissProt - O60258 - - - Ensembl - ENSG00000158815 - - - - - 8p21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23643382[PMID] - - dual specificity phosphatase 6 - DUSP6 - - MKP-3 - PYST1 - - - gene with protein product - - - - ClinVar - DUSP6 - - - Ensembl - ENSG00000139318 - - - Genatlas - DUSP6 - - - HGNC - 3072 - - - OMIM - 602748 - - - Reactome - Q16828 - - - SwissProt - Q16828 - - - - - 12q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23643382[PMID] - - sprouty RTK signaling antagonist 4 - SPRY4 - - - - gene with protein product - - - - ClinVar - SPRY4 - - - Reactome - Q9C004 - - - Ensembl - ENSG00000187678 - - - Genatlas - SPRY4 - - - HGNC - 15533 - - - OMIM - 607984 - - - SwissProt - Q9C004 - - - - - 5q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 91 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91 - Aromatase deficiency - - Disease - - - Disorder - - - - 21521281[PMID] - - cytochrome P450 family 19 subfamily A member 1 - CYP19A1 - - ARO - ARO1 - CPV1 - CYAR - P-450AROM - aromatase - - - gene with protein product - - - - ClinVar - CYP19A1 - - - OMIM - 107910 - - - Reactome - P11511 - - - SwissProt - P11511 - - - Ensembl - ENSG00000137869 - - - Genatlas - CYP19A1 - - - HGNC - 2594 - - - IUPHAR - 1362 - - - - - 15q21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 785 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=785 - Estrogen resistance syndrome - - Disease - - - Disorder - - - - 8090165[PMID]_23841731[PMID] - - estrogen receptor 1 - ESR1 - - ER-alpha - E2 receptor alpha - oestrogen receptor alpha - nuclear receptor subfamily 3 group A member 1 - estrogen receptor alpha - ER - estradiol receptor - Era - NR3A1 - - - gene with protein product - - - - ClinVar - ESR1 - - - Ensembl - ENSG00000091831 - - - Genatlas - ESR1 - - - HGNC - 3467 - - - IUPHAR - 620 - - - OMIM - 133430 - - - Reactome - P03372 - - - SwissProt - P03372 - - - - - 6q25.1-q25.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=873 - Desmoid tumor - - Disease - - - Disorder - - - - - - catenin beta 1 - CTNNB1 - - armadillo - beta-catenin - - - gene with protein product - - - - ClinVar - CTNNB1 - - - Ensembl - ENSG00000168036 - - - Genatlas - CTNNB1 - - - HGNC - 2514 - - - OMIM - 116806 - - - Reactome - P35222 - - - SwissProt - P35222 - - - - - 3p22.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - APC regulator of WNT signaling pathway - APC - - DP2 - DP2.5 - DP3 - PPP1R46 - protein phosphatase 1, regulatory subunit 46 - - - gene with protein product - - - - Ensembl - ENSG00000134982 - - - Genatlas - APC - - - HGNC - 583 - - - OMIM - 611731 - - - Reactome - P25054 - - - SwissProt - P25054 - - - ClinVar - APC - - - - - 5q22.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=703 - Bullous pemphigoid - - Disease - - - Disorder - - - - 8710911[PMID]_23806156[PMID] - - major histocompatibility complex, class II, DR beta 1 - HLA-DRB1 - - - - gene with protein product - - - - ClinVar - HLA-DRB1 - - - Ensembl - ENSG00000196126 - - - Genatlas - HLA-DRB1 - - - HGNC - 4948 - - - OMIM - 142857 - - - Reactome - P04229 - - - SwissProt - P01911 - - - - - 6p21.32 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 8710911[PMID]_23806156[PMID] - - major histocompatibility complex, class II, DQ beta 1 - HLA-DQB1 - - CELIAC1 - IDDM1 - - - gene with protein product - - - - ClinVar - HLA-DQB1 - - - Ensembl - ENSG00000179344 - - - Genatlas - HLA-DQB1 - - - HGNC - 4944 - - - OMIM - 604305 - - - Reactome - P01920 - - - SwissProt - P01920 - - - - - 6p21.32 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - 841 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=841 - Sebocystomatosis - - Disease - - - Disorder - - - - 26165312[PMID] - - keratin 17 - KRT17 - - - - gene with protein product - - - - Ensembl - ENSG00000128422 - - - Genatlas - KRT17 - - - HGNC - 6427 - - - OMIM - 148069 - - - SwissProt - Q04695 - - - ClinVar - KRT17 - - - Reactome - Q04695 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=867 - Familial multiple trichoepithelioma - - Clinical subtype - - - Subtype of disorder - - - - 19462465[PMID] - - CYLD lysine 63 deubiquitinase - CYLD - - KIAA0849 - USPL2 - ubiquitin specific peptidase like 2 - - - gene with protein product - - - - ClinVar - CYLD - - - Ensembl - ENSG00000083799 - - - Genatlas - CYLD - - - HGNC - 2584 - - - OMIM - 605018 - - - Reactome - Q9NQC7 - - - SwissProt - Q9NQC7 - - - - - 16q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 735 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=735 - Porokeratosis of Mibelli - - Disease - - - Disorder - - - - 26202976[PMID] - - mevalonate kinase - MVK - - LH receptor mRNA-binding protein - LRBP - MK - mevalonic aciduria - - - gene with protein product - - - - ClinVar - MVK - - - Ensembl - ENSG00000110921 - - - Genatlas - MVK - - - HGNC - 7530 - - - IUPHAR - 640 - - - OMIM - 251170 - - - Reactome - Q03426 - - - SwissProt - Q03426 - - - - - 12q24.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26202976[PMID] - - phosphomevalonate kinase - PMVK - - HUMPMKI - PMK - PMKA - - - gene with protein product - - - - ClinVar - PMVK - - - Ensembl - ENSG00000163344 - - - Genatlas - PMVK - - - HGNC - 9141 - - - IUPHAR - 641 - - - OMIM - 607622 - - - Reactome - Q15126 - - - SwissProt - Q15126 - - - - - 1q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 497906 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497906 - Childhood-onset basal ganglia degeneration syndrome - - Disease - - - Disorder - - - - 27292112[PMID] - - VAC14 component of PIKFYVE complex - VAC14 - - ArPIKfyve - FLJ10305 - - - gene with protein product - - - - HGNC - 25507 - - - Ensembl - ENSG00000103043 - - - SwissProt - Q08AM6 - - - OMIM - 604632 - - - Genatlas - VAC14 - - - Reactome - Q08AM6 - - - ClinVar - VAC14 - - - - - 16q22.1-q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 659 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659 - Mutilating palmoplantar keratoderma with periorificial keratotic plaques - - Disease - - - Disorder - - - - 30321533[PMID] - - p53 apoptosis effector related to PMP22 - PERP - - PIGPC1 - dJ496H19.1 - KCP1 - THW - KRTCAP1 - keratinocyte associated protein 1 - - - gene with protein product - - - - HGNC - 17637 - - - Ensembl - ENSG00000112378 - - - SwissProt - Q96FX8 - - - Reactome - Q96FX8 - - - OMIM - 609301 - - - - - 6q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22931912[PMID] - - membrane bound transcription factor peptidase, site 2 - MBTPS2 - - sterol regulatory element-binding proteins intramembrane protease - S2P - site-2 protease - - - gene with protein product - - - - Ensembl - ENSG00000012174 - - - Genatlas - MBTPS2 - - - HGNC - 15455 - - - OMIM - 300294 - - - Reactome - O43462 - - - SwissProt - O43462 - - - ClinVar - MBTPS2 - - - - - Xp22.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22405088[PMID] - - transient receptor potential cation channel subfamily V member 3 - TRPV3 - - VRL3 - - - gene with protein product - - - - Ensembl - ENSG00000167723 - - - Genatlas - TRPV3 - - - HGNC - 18084 - - - IUPHAR - 509 - - - OMIM - 607066 - - - Reactome - Q8NET8 - - - SwissProt - Q8NET8 - - - ClinVar - TRPV3 - - - - - 17p13.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=523 - Hereditary leiomyomatosis and renal cell cancer - - Disease - - - Disorder - - - - 15937070[PMID]_21398687[PMID] - - fumarate hydratase - FH - - fumarase - - - gene with protein product - - - - ClinVar - FH - - - Ensembl - ENSG00000091483 - - - Genatlas - FH - - - HGNC - 3700 - - - OMIM - 136850 - - - Reactome - P07954 - - - SwissProt - P07954 - - - - - 1q43 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 497757 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497757 - MME-related autosomal dominant Charcot Marie Tooth disease type 2 - - Disease - - - Disorder - - - - 27588448[PMID] - - membrane metalloendopeptidase - MME - - CALLA - CD10 - enkephalinase - NEP - neprilysin - neutral endopeptidase - - - gene with protein product - - - - HGNC - 7154 - - - OMIM - 120520 - - - Genatlas - MME - - - SwissProt - P08473 - - - Reactome - P08473 - - - Ensembl - ENSG00000196549 - - - IUPHAR - 1611 - - - ClinVar - MME - - - - - 3q25.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 497764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497764 - Spinocerebellar ataxia type 43 - - Disease - - - Disorder - - - - 27583304[PMID] - - membrane metalloendopeptidase - MME - - CALLA - CD10 - enkephalinase - NEP - neprilysin - neutral endopeptidase - - - gene with protein product - - - - HGNC - 7154 - - - OMIM - 120520 - - - Genatlas - MME - - - SwissProt - P08473 - - - Reactome - P08473 - - - Ensembl - ENSG00000196549 - - - IUPHAR - 1611 - - - ClinVar - MME - - - - - 3q25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530 - Lipoid proteinosis - - Malformation syndrome - - - Disorder - - - - 17063986[PMID]_17927570[PMID]_18690317[PMID] - - extracellular matrix protein 1 - ECM1 - - - - gene with protein product - - - - Ensembl - ENSG00000143369 - - - Genatlas - ECM1 - - - HGNC - 3153 - - - OMIM - 602201 - - - SwissProt - Q16610 - - - ClinVar - ECM1 - - - Reactome - Q16610 - - - - - 1q21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=734 - Alpha delta granule deficiency - - Disease - - - Disorder - - - - 28041820[PMID] - - growth factor independent 1B transcriptional repressor - GFI1B - - ZNF163B - - - gene with protein product - - - - Ensembl - ENSG00000165702 - - - Genatlas - GFI1B - - - HGNC - 4238 - - - OMIM - 604383 - - - SwissProt - Q5VTD9 - - - ClinVar - GFI1B - - - Reactome - Q5VTD9 - - - - - 9q34.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 721 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=721 - Gray platelet syndrome - - Disease - - - Disorder - - - - 21765411[PMID]_21765412[PMID] - - neurobeachin like 2 - NBEAL2 - - KIAA0540 - - - gene with protein product - - - - Reactome - Q6ZNJ1 - - - Ensembl - ENSG00000160796 - - - Genatlas - NBEAL2 - - - HGNC - 31928 - - - OMIM - 614169 - - - SwissProt - Q6ZNJ1 - - - ClinVar - NBEAL2 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=722 - Hypoplasminogenemia - - Disease - - - Disorder - - - - 16849641[PMID] - - plasminogen - PLG - - - - gene with protein product - - - - Reactome - P00747 - - - SwissProt - P00747 - - - Ensembl - ENSG00000122194 - - - Genatlas - PLG - - - HGNC - 9071 - - - IUPHAR - 2394 - - - OMIM - 173350 - - - ClinVar - PLG - - - - - 6q26 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=749 - Congenital prekallikrein deficiency - - Disease - - - Disorder - - - - 15461630[PMID]_20301226[PMID] - - kallikrein B1 - KLKB1 - - Fletcher factor - - - gene with protein product - - - - Ensembl - ENSG00000164344 - - - Genatlas - KLKB1 - - - HGNC - 6371 - - - IUPHAR - 2379 - - - OMIM - 229000 - - - Reactome - P03952 - - - SwissProt - P03952 - - - ClinVar - KLKB1 - - - - - 4q35.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 853 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=853 - Fetal and neonatal alloimmune thrombocytopenia - - Disease - - - Disorder - - - - - - glycoprotein Ib platelet subunit alpha - GP1BA - - CD42b - GPIbalpha - platelet glycoprotein Ib alpha chain - - - gene with protein product - - - - ClinVar - GP1BA - - - Ensembl - ENSG00000185245 - - - Genatlas - GP1BA - - - HGNC - 4439 - - - OMIM - 606672 - - - Reactome - P07359 - - - SwissProt - P07359 - - - - - 17p13.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - glycoprotein Ib platelet subunit beta - GP1BB - - CD42c - GPIbbeta - platelet glycoprotein Ib beta chain - - - gene with protein product - - - - ClinVar - GP1BB - - - Ensembl - ENSG00000203618 - - - Genatlas - GP1BB - - - HGNC - 4440 - - - OMIM - 138720 - - - Reactome - P13224 - - - SwissProt - P13224 - - - - - 22q11.21 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - integrin subunit alpha 2b - ITGA2B - - CD41 - CD41B - PPP1R93 - platelet glycoprotein IIb of IIb/IIIa complex - protein phosphatase 1, regulatory subunit 93 - GPIIb - Integrin alpha-IIb - - - gene with protein product - - - - ClinVar - ITGA2B - - - Ensembl - ENSG00000005961 - - - Genatlas - ITGA2B - - - HGNC - 6138 - - - OMIM - 607759 - - - Reactome - P08514 - - - SwissProt - P08514 - - - IUPHAR - 2441 - - - - - 17q21.31 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 19821948[PMID] - - integrin subunit beta 3 - ITGB3 - - CD61 - GPIIIa - antigen CD61 - platelet glycoprotein IIIa - - - gene with protein product - - - - Ensembl - ENSG00000259207 - - - Genatlas - ITGB3 - - - HGNC - 6156 - - - OMIM - 173470 - - - Reactome - P05106 - - - SwissProt - P05106 - - - ClinVar - ITGB3 - - - IUPHAR - 2457 - - - - - 17q21.32 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - integrin subunit alpha 2 - ITGA2 - - alpha 2 subunit of VLA-2 receptor - GPIa - very late activation receptor subunit alpha-2 - alpha 2 integrin - VLAA2 - glycoprotein Ia - human platelet alloantigen 5 - HPA-5 - - - gene with protein product - - - - Reactome - P17301 - - - SwissProt - P17301 - - - Ensembl - ENSG00000164171 - - - Genatlas - ITGA2 - - - HGNC - 6137 - - - OMIM - 192974 - - - IUPHAR - 2440 - - - ClinVar - ITGA2 - - - - - 5q11.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - CD109 molecule - CD109 - - CPAMD7 - DKFZp762L1111 - FLJ38569 - - - gene with protein product - - - - Ensembl - ENSG00000156535 - - - Genatlas - CD109 - - - HGNC - 21685 - - - OMIM - 608859 - - - SwissProt - Q6YHK3 - - - Reactome - Q6YHK3 - - - ClinVar - CD109 - - - - - 6q13 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=483 - Congenital high-molecular-weight kininogen deficiency - - Disease - - - Disorder - - - - 17522339[PMID] - - kininogen 1 - KNG1 - - HMWK - BK - alpha-2-thiol proteinase inhibitor - bradykinin - high-molecular-weight kininogen - - - gene with protein product - - - - ClinVar - KNG1 - - - Ensembl - ENSG00000113889 - - - Genatlas - KNG1 - - - HGNC - 6383 - - - OMIM - 612358 - - - Reactome - P01042 - - - SwissProt - P01042 - - - - - 3q27.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 498359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498359 - Aquagenic palmoplantar keratoderma - - Disease - - - Disorder - - - - - - CF transmembrane conductance regulator - CFTR - - MRP7 - TNR-CFTR - dJ760C5.1 - ABC35 - ATP-binding cassette sub-family C, member 7 - CFTR/MRP - - - gene with protein product - - - - Ensembl - ENSG00000001626 - - - Genatlas - CFTR - - - HGNC - 1884 - - - IUPHAR - 707 - - - OMIM - 602421 - - - Reactome - P13569 - - - SwissProt - P13569 - - - ClinVar - CFTR - - - - - 7q31.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 852 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=852 - X-linked thrombocytopenia with normal platelets - - Etiological subtype - - - Subtype of disorder - - - - 20301357[PMID] - - WASP actin nucleation promoting factor - WAS - - WASP - WASPA - eczema-thrombocytopenia - - - gene with protein product - - - - ClinVar - WAS - - - Ensembl - ENSG00000015285 - - - Genatlas - WAS - - - HGNC - 12731 - - - OMIM - 300392 - - - Reactome - P42768 - - - SwissProt - P42768 - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465 - Congenital plasminogen activator inhibitor type 1 deficiency - - Disease - - - Disorder - - - - 9207454[PMID] - - serpin family E member 1 - SERPINE1 - - plasminogen activator inhibitor, type I - PAI - - - gene with protein product - - - - ClinVar - SERPINE1 - - - Ensembl - ENSG00000106366 - - - Genatlas - SERPINE1 - - - HGNC - 8583 - - - OMIM - 173360 - - - Reactome - P05121 - - - SwissProt - P05121 - - - - - 7q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 498251 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498251 - Menstrual cycle-dependent periodic fever - - Disease - - - Disorder - - - - 21990073[PMID] - - 5-hydroxytryptamine receptor 1A - HTR1A - - 5-HT1A - - - gene with protein product - - - - IUPHAR - 1 - - - HGNC - 5286 - - - Ensembl - ENSG00000178394 - - - SwissProt - P08908 - - - OMIM - 109760 - - - Genatlas - HTR1A - - - Reactome - P08908 - - - ClinVar - HTR1A - - - - - 5q12.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 143 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=143 - Parathyroid carcinoma - - Disease - - - Disorder - - - - 14585940[PMID]_15719375[PMID] - - cell division cycle 73 - CDC73 - - FIHP - Paf1/RNA polymerase II complex component - parafibromin - - - gene with protein product - - - - Ensembl - ENSG00000134371 - - - Genatlas - CDC73 - - - HGNC - 16783 - - - OMIM - 607393 - - - Reactome - Q6P1J9 - - - SwissProt - Q6P1J9 - - - ClinVar - CDC73 - - - - - 1q31.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=786 - Generalized glucocorticoid resistance syndrome - - Disease - - - Disorder - - - - 23076843[PMID]_19933394[PMID] - - nuclear receptor subfamily 3 group C member 1 - NR3C1 - - GR - - - gene with protein product - - - - ClinVar - NR3C1 - - - Ensembl - ENSG00000113580 - - - Genatlas - NR3C1 - - - HGNC - 7978 - - - IUPHAR - 625 - - - OMIM - 138040 - - - Reactome - P04150 - - - SwissProt - P04150 - - - - - 5q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=334 - Hereditary atrial fibrillation - - Disease - - - Disorder - - - - 17245405[PMID] - - ATP binding cassette subfamily C member 9 - ABCC9 - - CMD1O - SUR2 - sulfonylurea receptor 2 - - - gene with protein product - - - - ClinVar - ABCC9 - - - Ensembl - ENSG00000069431 - - - Genatlas - ABCC9 - - - HGNC - 60 - - - IUPHAR - 2746 - - - OMIM - 601439 - - - Reactome - O60706 - - - SwissProt - O60706 - - - - - 12p12.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 24333117[PMID] - - paired like homeodomain 2 - PITX2 - - ARP1 - Brx1 - IGDS - Otlx2 - RS - - - gene with protein product - - - - Ensembl - ENSG00000164093 - - - Genatlas - PITX2 - - - HGNC - 9005 - - - OMIM - 601542 - - - SwissProt - Q99697 - - - ClinVar - PITX2 - - - Reactome - Q99697 - - - - - 4q25 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 18929244[PMID]_18378609[PMID]_24582607[PMID] - - sodium voltage-gated channel alpha subunit 5 - SCN5A - - CDCD2 - CMPD2 - HB1 - HB2 - HBBD - HH1 - ICCD - IVF - LQT3 - Nav1.5 - PFHB1 - SSS1 - long QT syndrome 3 - - - gene with protein product - - - - ClinVar - SCN5A - - - Ensembl - ENSG00000183873 - - - Genatlas - SCN5A - - - HGNC - 10593 - - - IUPHAR - 582 - - - OMIM - 600163 - - - Reactome - Q14524 - - - SwissProt - Q14524 - - - - - 3p22.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 21708142[PMID]_21874226[PMID]_22552926[PMID] - - GATA binding protein 4 - GATA4 - - - - gene with protein product - - - - ClinVar - GATA4 - - - Ensembl - ENSG00000136574 - - - Genatlas - GATA4 - - - HGNC - 4173 - - - OMIM - 600576 - - - Reactome - P43694 - - - SwissProt - P43694 - - - - - 8p23.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22471742[PMID] - - potassium voltage-gated channel subfamily E regulatory subunit 1 - KCNE1 - - ISK - JLNS2 - LQT5 - minK - Long QT syndrome 5 - Jervell and Lange-Nielsen syndrome 2 - IsK - - - gene with protein product - - - - Reactome - P15382 - - - SwissProt - P15382 - - - Ensembl - ENSG00000180509 - - - Genatlas - KCNE1 - - - HGNC - 6240 - - - OMIM - 176261 - - - ClinVar - KCNE1 - - - - - 21q22.12 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 15368194[PMID] - - potassium voltage-gated channel subfamily E regulatory subunit 2 - KCNE2 - - LQT6 - MiRP1 - - - gene with protein product - - - - Ensembl - ENSG00000159197 - - - Genatlas - KCNE2 - - - HGNC - 6242 - - - OMIM - 603796 - - - Reactome - Q9Y6J6 - - - SwissProt - Q9Y6J6 - - - ClinVar - KCNE2 - - - - - 21q22.11 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 15922306[PMID] - - potassium inwardly rectifying channel subfamily J member 2 - KCNJ2 - - IRK1 - Kir2.1 - LQT7 - - - gene with protein product - - - - Ensembl - ENSG00000123700 - - - Genatlas - KCNJ2 - - - HGNC - 6263 - - - IUPHAR - 430 - - - OMIM - 600681 - - - Reactome - P63252 - - - SwissProt - P63252 - - - ClinVar - KCNJ2 - - - - - 17q24.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 12522251[PMID]_22471742[PMID] - - potassium voltage-gated channel subfamily Q member 1 - KCNQ1 - - JLNS1 - Jervell and Lange-Nielsen syndrome 1 - KCNA8 - KVLQT1 - Kv7.1 - LQT1 - - - gene with protein product - - - - Ensembl - ENSG00000053918 - - - Genatlas - KCNQ1 - - - HGNC - 6294 - - - IUPHAR - 560 - - - OMIM - 607542 - - - Reactome - P51787 - - - SwissProt - P51787 - - - ClinVar - KCNQ1 - - - - - 11p15.5-p15.4 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 23525379[PMID]_22818067[PMID] - - NK2 homeobox 5 - NKX2-5 - - tinman paralog (Drosophila) - CSX1 - NKX2.5 - NKX4-1 - tinman (Drosophila) homolog - - - gene with protein product - - - - Reactome - P52952 - - - SwissProt - P52952 - - - Ensembl - ENSG00000183072 - - - Genatlas - NKX2-5 - - - HGNC - 2488 - - - OMIM - 600584 - - - ClinVar - NKX2-5 - - - - - 5q35.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20650941[PMID] - - gap junction protein alpha 5 - GJA5 - - CX40 - connexin 40 - - - gene with protein product - - - - IUPHAR - 726 - - - Ensembl - ENSG00000265107 - - - Genatlas - GJA5 - - - HGNC - 4279 - - - OMIM - 121013 - - - Reactome - P36382 - - - SwissProt - P36382 - - - ClinVar - GJA5 - - - - - 1q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19808477[PMID] - - sodium voltage-gated channel beta subunit 1 - SCN1B - - - - gene with protein product - - - - ClinVar - SCN1B - - - Ensembl - ENSG00000105711 - - - Genatlas - SCN1B - - - HGNC - 10586 - - - OMIM - 600235 - - - Reactome - Q07699 - - - SwissProt - Q07699 - - - - - 19q13.11 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 30764634[PMID] - - potassium inwardly rectifying channel subfamily J member 3 - KCNJ3 - - GIRK1 - KGA - G protein-activated inward rectifier potassium channel 1 - Kir3.1 - - - gene with protein product - - - - HGNC - 6264 - - - Ensembl - ENSG00000162989 - - - OMIM - 601534 - - - IUPHAR - 434 - - - SwissProt - P48549 - - - - - 2q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27066836[PMID] - - myosin light chain 4 - MYL4 - - atrial myosin light chain 1 - ALC1 - GT1 - myosin, atrial/fetal muscle, light chain - PRO1957 - AMLC - - - gene with protein product - - - - Ensembl - ENSG00000198336 - - - HGNC - 7585 - - - OMIM - 160770 - - - ClinVar - MYL4 - - - Genatlas - MYL4 - - - SwissProt - P12829 - - - Reactome - P12829 - - - - - 17q21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30333491[PMID] - - titin - TTN - - CMH9 - CMPD4 - FLJ32040 - LGMD2J - MYLK5 - TMD - - - gene with protein product - - - - Reactome - Q8WZ42 - - - SwissProt - Q8WZ42 - - - ClinVar - TTN - - - Ensembl - ENSG00000155657 - - - Genatlas - TTN - - - HGNC - 12403 - - - IUPHAR - 2265 - - - OMIM - 188840 - - - - - 2q31.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 25319568[PMID] - - NK2 homeobox 6 - NKX2-6 - - CSX2 - NKX4-2 - tinman paralog (Drosophila) - tinman (Drosophila) homolog - - - gene with protein product - - - - ClinVar - NKX2-6 - - - Genatlas - NKX2-6 - - - HGNC - 32940 - - - OMIM - 611770 - - - SwissProt - A6NCS4 - - - Ensembl - ENSG00000180053 - - - - - 8p21.2 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - 23604097[PMID] - - sodium voltage-gated channel beta subunit 4 - SCN4B - - LQT10 - - - gene with protein product - - - - ClinVar - SCN4B - - - OMIM - 608256 - - - Reactome - Q8IWT1 - - - SwissProt - Q8IWT1 - - - Ensembl - ENSG00000177098 - - - Genatlas - SCN4B - - - HGNC - 10592 - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19343045[PMID]_16772329[PMID] - - potassium voltage-gated channel subfamily A member 5 - KCNA5 - - HK2 - HPCN1 - Kv1.5 - - - gene with protein product - - - - SwissProt - P22460 - - - Ensembl - ENSG00000130037 - - - Genatlas - KCNA5 - - - HGNC - 6224 - - - IUPHAR - 542 - - - OMIM - 176267 - - - Reactome - P22460 - - - ClinVar - KCNA5 - - - - - 12p13.32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 19070573[PMID] - - nucleoporin 155 - NUP155 - - KIAA0791 - N155 - - - gene with protein product - - - - ClinVar - NUP155 - - - Ensembl - ENSG00000113569 - - - Genatlas - NUP155 - - - HGNC - 8063 - - - OMIM - 606694 - - - Reactome - O75694 - - - SwissProt - O75694 - - - - - 5p13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 18614783[PMID] - - natriuretic peptide A - NPPA - - - - gene with protein product - - - - Ensembl - ENSG00000175206 - - - Genatlas - NPPA - - - HGNC - 7939 - - - OMIM - 108780 - - - Reactome - P01160 - - - SwissProt - P01160 - - - ClinVar - NPPA - - - - - 1p36.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20558140[PMID]_21051419[PMID] - - sodium voltage-gated channel beta subunit 3 - SCN3B - - HSA243396 - SCNB3 - - - gene with protein product - - - - Ensembl - ENSG00000166257 - - - Genatlas - SCN3B - - - HGNC - 20665 - - - OMIM - 608214 - - - Reactome - Q9NY72 - - - SwissProt - Q9NY72 - - - ClinVar - SCN3B - - - - - 11q24.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22824924[PMID]_22750565[PMID]_22257684[PMID] - - GATA binding protein 6 - GATA6 - - - - gene with protein product - - - - Ensembl - ENSG00000141448 - - - Genatlas - GATA6 - - - HGNC - 4174 - - - OMIM - 601656 - - - Reactome - Q92908 - - - SwissProt - Q92908 - - - ClinVar - GATA6 - - - - - 18q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22483626[PMID]_23175127[PMID]_23295592[PMID] - - GATA binding protein 5 - GATA5 - - GATAS - bB379O24.1 - - - gene with protein product - - - - HGNC - 15802 - - - OMIM - 611496 - - - Reactome - Q9BWX5 - - - SwissProt - Q9BWX5 - - - Ensembl - ENSG00000130700 - - - Genatlas - GATA5 - - - ClinVar - GATA5 - - - - - 20q13.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 19808477[PMID] - - sodium voltage-gated channel beta subunit 2 - SCN2B - - - - gene with protein product - - - - Ensembl - ENSG00000149575 - - - Genatlas - SCN2B - - - HGNC - 10589 - - - OMIM - 601327 - - - Reactome - O60939 - - - SwissProt - O60939 - - - ClinVar - SCN2B - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 30764634[PMID] - - potassium inwardly rectifying channel subfamily J member 5 - KCNJ5 - - CIR - GIRK4 - KATP1 - Kir3.4 - LQT13 - G protein-activated inward rectifier potassium channel 4 - - - gene with protein product - - - - Ensembl - ENSG00000120457 - - - Genatlas - KCNJ5 - - - HGNC - 6266 - - - IUPHAR - 437 - - - OMIM - 600734 - - - Reactome - P48544 - - - SwissProt - P48544 - - - ClinVar - KCNJ5 - - - - - 11q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 615 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615 - Familial atrial myxoma - - Disease - - - Disorder - - - - 10973256[PMID] - - protein kinase cAMP-dependent type I regulatory subunit alpha - PRKAR1A - - CNC1 - Carney complex type 1 - - - gene with protein product - - - - Ensembl - ENSG00000108946 - - - Genatlas - PRKAR1A - - - HGNC - 9388 - - - IUPHAR - 1472 - - - OMIM - 188830 - - - Reactome - P10644 - - - SwissProt - P10644 - - - ClinVar - PRKAR1A - - - - - 17q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 498497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498497 - Short rib-polydactyly syndrome type 5 - - Malformation syndrome - - - Disorder - - - - 17935248[PMID]_21473986[PMID] - - WD repeat domain 35 - WDR35 - - FAP118 - IFT121 - IFTA1 - KIAA1336 - MGC33196 - CFAP118 - - - gene with protein product - - - - ClinVar - WDR35 - - - Ensembl - ENSG00000118965 - - - Genatlas - WDR35 - - - HGNC - 29250 - - - OMIM - 613602 - - - Reactome - Q9P2L0 - - - SwissProt - Q9P2L0 - - - - - 2p24.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 498693 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498693 - MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome - - Disease - - - Disorder - - - - 26661508[PMID] - - myosin binding protein C1 - MYBPC1 - - slow skeletal-type muscle myosin-binding-protein C - ssMyBP-C - - - gene with protein product - - - - SwissProt - Q00872 - - - Ensembl - ENSG00000196091 - - - Genatlas - MYBPC1 - - - HGNC - 7549 - - - OMIM - 160794 - - - Reactome - Q00872 - - - ClinVar - MYBPC1 - - - - - 12q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444 - Marie Unna hereditary hypotrichosis - - Disease - - - Disorder - - - - 23099647[PMID] - - EPS8 signaling adaptor L3 - EPS8L3 - - FLJ21522 - MGC16817 - Epidermal growth factor receptor kinase substrate 8-like protein 3 - - - gene with protein product - - - - Ensembl - ENSG00000198758 - - - Genatlas - EPS8L3 - - - HGNC - 21297 - - - OMIM - 614989 - - - SwissProt - Q8TE67 - - - ClinVar - EPS8L3 - - - - - 1p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19122663[PMID] - - HR lysine demethylase and nuclear receptor corepressor - HR - - AU - - - gene with protein product - - - - Reactome - O43593 - - - Ensembl - ENSG00000168453 - - - Genatlas - HR - - - HGNC - 5172 - - - OMIM - 602302 - - - SwissProt - O43593 - - - ClinVar - HR - - - - - 8p21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 498481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498481 - LRP5-related primary osteoporosis - - Malformation syndrome - - - Disorder - - - - 15824851[PMID] - - LDL receptor related protein 5 - LRP5 - - BMND1 - EVR4 - HBM - LR3 - OPS - OPTA1 - VBCH2 - - - gene with protein product - - - - ClinVar - LRP5 - - - Ensembl - ENSG00000162337 - - - Genatlas - LRP5 - - - HGNC - 6697 - - - OMIM - 603506 - - - Reactome - O75197 - - - SwissProt - O75197 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15824851[PMID]_22487062[PMID] - - LDL receptor related protein 5 - LRP5 - - BMND1 - EVR4 - HBM - LR3 - OPS - OPTA1 - VBCH2 - - - gene with protein product - - - - ClinVar - LRP5 - - - Ensembl - ENSG00000162337 - - - Genatlas - LRP5 - - - HGNC - 6697 - - - OMIM - 603506 - - - Reactome - O75197 - - - SwissProt - O75197 - - - - - 11q13.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573 - Monilethrix - - Disease - - - Disorder - - - - 9241275[PMID]_22670615[PMID] - - keratin 86 - KRT86 - - Hb6 - MNX - hard keratin type II 6 - - - gene with protein product - - - - ClinVar - KRT86 - - - Ensembl - ENSG00000170442 - - - Genatlas - KRT86 - - - HGNC - 6463 - - - OMIM - 601928 - - - SwissProt - O43790 - - - Reactome - O43790 - - - - - 12q13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15744029[PMID] - - keratin 83 - KRT83 - - Hb-3 - hard keratin type II - - - gene with protein product - - - - Reactome - P78385 - - - Ensembl - ENSG00000170523 - - - Genatlas - KRT83 - - - HGNC - 6460 - - - OMIM - 602765 - - - SwissProt - P78385 - - - ClinVar - KRT83 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 9402962[PMID]_9665406[PMID] - - keratin 81 - KRT81 - - Hb-1 - hard keratin type II 1 - - - gene with protein product - - - - ClinVar - KRT81 - - - Ensembl - ENSG00000205426 - - - Genatlas - KRT81 - - - HGNC - 6458 - - - OMIM - 602153 - - - SwissProt - Q14533 - - - Reactome - Q14533 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16575393[PMID]_21495994[PMID] - - desmoglein 4 - DSG4 - - CDHF13 - LAH - - - gene with protein product - - - - ClinVar - DSG4 - - - Reactome - Q86SJ6 - - - Ensembl - ENSG00000175065 - - - Genatlas - DSG4 - - - HGNC - 21307 - - - OMIM - 607892 - - - SwissProt - Q86SJ6 - - - - - 18q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=840 - Syringocystadenoma papilliferum - - Disease - - - Disorder - - - - 25532942[PMID] - - B-Raf proto-oncogene, serine/threonine kinase - BRAF - - BRAF1 - BRAF-1 - - - gene with protein product - - - - Ensembl - ENSG00000157764 - - - Genatlas - BRAF - - - HGNC - 1097 - - - IUPHAR - 1943 - - - OMIM - 164757 - - - Reactome - P15056 - - - SwissProt - P15056 - - - ClinVar - BRAF - - - - - 7q34 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 498494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498494 - Mirror-image polydactyly - - Morphological anomaly - - - Disorder - - - - 22258522[PMID] - - paired like homeodomain 1 - PITX1 - - POTX - PTX1 - - - gene with protein product - - - - Reactome - P78337 - - - Ensembl - ENSG00000069011 - - - Genatlas - PITX1 - - - HGNC - 9004 - - - OMIM - 602149 - - - SwissProt - P78337 - - - ClinVar - PITX1 - - - - - 5q31.1 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=384 - Huriez syndrome - - Disease - - - Disorder - - - - 29409814[PMID] - - SNF2 related chromatin remodeling ATPase with DExD box 1 - SMARCAD1 - - DKFZP762K2015 - DKFZp762K2015 - ETL1 - KIAA1122 - - - gene with protein product - - - - ClinVar - SMARCAD1 - - - Ensembl - ENSG00000163104 - - - Genatlas - SMARCAD1 - - - HGNC - 18398 - - - OMIM - 612761 - - - SwissProt - Q9H4L7 - - - - - 4q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 41 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=41 - Dyschromatosis symmetrica hereditaria - - Disease - - - Disorder - - - - 12916015[PMID] - - adenosine deaminase RNA specific - ADAR - - ADAR1 - DRADA - Double-stranded RNA-specific adenosine deaminase - - - gene with protein product - - - - Ensembl - ENSG00000160710 - - - Genatlas - ADAR - - - HGNC - 225 - - - OMIM - 146920 - - - Reactome - P55265 - - - SwissProt - P55265 - - - ClinVar - ADAR - - - - - 1q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=122 - Birt-Hogg-Dubé syndrome - - Malformation syndrome - - - Disorder - - - - 37331486[PMID] - - PR/SET domain 10 - PRDM10 - - KIAA1231 - PFM7 - MGC131802 - PRDM zinc finger transcription factor - PR-domain family member 7 - tristanin - - - gene with protein product - - - - Ensembl - ENSG00000170325 - - - SwissProt - Q9NQV6 - - - OMIM - 618319 - - - HGNC - 13995 - - - - - 11q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301695[PMID] - - folliculin - FLCN - - BHD - MGC17998 - MGC23445 - DENND8B - - - gene with protein product - - - - ClinVar - FLCN - - - Ensembl - ENSG00000154803 - - - Genatlas - FLCN - - - HGNC - 27310 - - - OMIM - 607273 - - - SwissProt - Q8NFG4 - - - - - 17p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 38 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=38 - Acrokeratoelastoidosis of Costa - - Disease - - - Disorder - - - - 38627542[PMID] - - coiled-coil domain containing 91 - CCDC91 - - - - gene with protein product - - - - HGNC - 24855 - - - - - 12p11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=241 - Dyschromatosis universalis hereditaria - - Disease - - - Disorder - - - - 23519333[PMID] - - ATP binding cassette subfamily B member 6 (LAN blood group) - ABCB6 - - umat - ATP-binding cassette half-transporter - EST45597 - MTABC3 - - - gene with protein product - - - - Ensembl - ENSG00000115657 - - - Genatlas - ABCB6 - - - HGNC - 47 - - - OMIM - 605452 - - - Reactome - Q9NP58 - - - SwissProt - Q9NP58 - - - IUPHAR - 773 - - - ClinVar - ABCB6 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316 - Progressive symmetric erythrokeratodermia - - Disease - - - Disorder - - - - 30528822[PMID] - - transient receptor potential cation channel subfamily M member 4 - TRPM4 - - FLJ20041 - - - gene with protein product - - - - ClinVar - TRPM4 - - - Reactome - Q8TD43 - - - SwissProt - Q8TD43 - - - Ensembl - ENSG00000130529 - - - Genatlas - TRPM4 - - - HGNC - 17993 - - - IUPHAR - 496 - - - OMIM - 606936 - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 27965375[PMID] - - keratin 83 - KRT83 - - Hb-3 - hard keratin type II - - - gene with protein product - - - - Reactome - P78385 - - - Ensembl - ENSG00000170523 - - - Genatlas - KRT83 - - - HGNC - 6460 - - - OMIM - 602765 - - - SwissProt - P78385 - - - ClinVar - KRT83 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 28575652[PMID] - - 3-ketodihydrosphingosine reductase - KDSR - - 3-dehydrosphinganine reductase - DHSR - SDR35C1 - short chain dehydrogenase/reductase family 35C, member 1 - - - gene with protein product - - - - ClinVar - KDSR - - - Ensembl - ENSG00000119537 - - - OMIM - 136440 - - - SwissProt - Q06136 - - - IUPHAR - 2463 - - - HGNC - 4021 - - - Genatlas - KDSR - - - Reactome - R-HSA-428134 - - - - - 18q21.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - loricrin cornified envelope precursor protein - LORICRIN - - - - gene with protein product - - - - Reactome - P23490 - - - ClinVar - LOR - - - Ensembl - ENSG00000203782 - - - Genatlas - LOR - - - HGNC - 6663 - - - OMIM - 152445 - - - SwissProt - P23490 - - - - - 1q21.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 211 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211 - Familial cylindromatosis - - Clinical subtype - - - Subtype of disorder - - - - 19462465[PMID] - - CYLD lysine 63 deubiquitinase - CYLD - - KIAA0849 - USPL2 - ubiquitin specific peptidase like 2 - - - gene with protein product - - - - ClinVar - CYLD - - - Ensembl - ENSG00000083799 - - - Genatlas - CYLD - - - HGNC - 2584 - - - OMIM - 605018 - - - Reactome - Q9NQC7 - - - SwissProt - Q9NQC7 - - - - - 16q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 2908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2908 - Kindler epidermolysis bullosa - - Disease - - - Disorder - - - - 22466645[PMID] - - FERM domain containing kindlin 1 - FERMT1 - - FLJ20116 - KIND1 - UNC112A - URP1 - kinderlin - kindlin-1 - - - gene with protein product - - - - ClinVar - FERMT1 - - - Ensembl - ENSG00000101311 - - - Genatlas - FERMT1 - - - HGNC - 15889 - - - OMIM - 607900 - - - SwissProt - Q9BQL6 - - - - - 20p12.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 779 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=779 - Reynolds syndrome - - Disease - - - Disorder - - - - 20522425[PMID] - - lamin B receptor - LBR - - DHCR14B - TDRD18 - tudor domain containing 18 - - - gene with protein product - - - - ClinVar - LBR - - - OMIM - 600024 - - - Reactome - Q14739 - - - SwissProt - Q14739 - - - Ensembl - ENSG00000143815 - - - Genatlas - LBR - - - HGNC - 6518 - - - - - 1q42.12 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 486811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486811 - Prenatal-onset spinal muscular atrophy with congenital bone fractures - - Disease - - - Disorder - - - - 26924529[PMID]_28218388[PMID] - - activating signal cointegrator 1 complex subunit 1 - ASCC1 - - ASC1p50 - CGI-18 - Em:AC022392.3 - p50 - - - gene with protein product - - - - OMIM - 614215 - - - Reactome - Q8N9N2 - - - SwissProt - Q8N9N2 - - - Ensembl - ENSG00000138303 - - - Genatlas - ASCC1 - - - HGNC - 24268 - - - ClinVar - ASCC1 - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26924529[PMID]_28218388[PMID] - - thyroid hormone receptor interactor 4 - TRIP4 - - ASC-1 - Activating Signal Cointegrator-1 - HsT17391 - ZC2HC5 - zinc finger, C2HC5-type - - - gene with protein product - - - - Genatlas - TRIP4 - - - ClinVar - TRIP4 - - - SwissProt - Q15650 - - - Ensembl - ENSG00000103671 - - - OMIM - 604501 - - - HGNC - 12310 - - - - - 15q22.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 486815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486815 - Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome - - Disease - - - Disorder - - - - 27008887[PMID] - - thyroid hormone receptor interactor 4 - TRIP4 - - ASC-1 - Activating Signal Cointegrator-1 - HsT17391 - ZC2HC5 - zinc finger, C2HC5-type - - - gene with protein product - - - - Genatlas - TRIP4 - - - ClinVar - TRIP4 - - - SwissProt - Q15650 - - - Ensembl - ENSG00000103671 - - - OMIM - 604501 - - - HGNC - 12310 - - - - - 15q22.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 485418 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485418 - EMILIN-1-related connective tissue disease - - Disease - - - Disorder - - - - 26462740[PMID] - - elastin microfibril interfacer 1 - EMILIN1 - - EMILIN - DKFZp586M121 - gp115 - - - gene with protein product - - - - Reactome - Q9Y6C2 - - - SwissProt - Q9Y6C2 - - - OMIM - 130660 - - - Ensembl - ENSG00000138080 - - - Genatlas - EMILIN1 - - - HGNC - 19880 - - - ClinVar - EMILIN1 - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 485421 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485421 - MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect - - Etiological subtype - - - Subtype of disorder - - - - 26783368[PMID]_22499341[PMID] - - mitochondrial fission factor - MFF - - GL004 - - - gene with protein product - - - - HGNC - 24858 - - - Ensembl - ENSG00000168958 - - - ClinVar - MFF - - - Genatlas - MFF - - - SwissProt - Q9GZY8 - - - OMIM - 614785 - - - - - 2q36.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 485350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485350 - CLCN4-related X-linked intellectual disability syndrome - - Disease - - - Disorder - - - - 27550844[PMID] - - chloride voltage-gated channel 4 - CLCN4 - - ClC-4 - CLC4 - - - gene with protein product - - - - SwissProt - P51793 - - - HGNC - 2022 - - - OMIM - 302910 - - - Genatlas - CLCN4 - - - Reactome - P51793 - - - Ensembl - ENSG00000073464 - - - IUPHAR - 703 - - - ClinVar - CLCN4 - - - - - Xp22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 485275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485275 - Acquired schizencephaly - - Etiological subtype - - - Subtype of disorder - - - - 8528262[PMID]_9153481[PMID]_9359037[PMID]_17506092[PMID]_17506092[PMID] - - empty spiracles homeobox 2 - EMX2 - - - - gene with protein product - - - - Reactome - Q04743 - - - Ensembl - ENSG00000170370 - - - Genatlas - EMX2 - - - HGNC - 3341 - - - OMIM - 600035 - - - SwissProt - Q04743 - - - ClinVar - EMX2 - - - - - 10q26.11 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 20157829[PMID] - - SIX homeobox 3 - SIX3 - - - - gene with protein product - - - - Ensembl - ENSG00000138083 - - - Genatlas - SIX3 - - - HGNC - 10889 - - - OMIM - 603714 - - - SwissProt - O95343 - - - ClinVar - SIX3 - - - Reactome - O95343 - - - - - 2p21 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 19533790[PMID]_20157829[PMID] - - sonic hedgehog signaling molecule - SHH - - HHG1 - MCOPCB5 - SMMCI - TPT - TPTPS - - - gene with protein product - - - - ClinVar - SHH - - - Ensembl - ENSG00000164690 - - - Genatlas - SHH - - - HGNC - 10848 - - - OMIM - 600725 - - - Reactome - Q15465 - - - SwissProt - Q15465 - - - - - 7q36.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 482606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482606 - X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome - - Malformation syndrome - - - Disorder - - - - 26804200[PMID]_26686323[PMID] - - filamin A - FLNA - - ABP-280 - actin binding protein 280 - alpha filamin - - - gene with protein product - - - - Ensembl - ENSG00000196924 - - - Genatlas - FLNA - - - HGNC - 3754 - - - OMIM - 300017 - - - Reactome - P21333 - - - SwissProt - P21333 - - - ClinVar - FLNA - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 482601 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482601 - Adenylosuccinate synthetase-like 1-related distal myopathy - - Disease - - - Disorder - - - - 26506222[PMID]_27868399[PMID]_28268051[PMID] - - adenylosuccinate synthase 1 - ADSS1 - - FLJ38602 - - - gene with protein product - - - - OMIM - 612498 - - - Ensembl - ENSG00000185100 - - - Genatlas - ADSSL1 - - - ClinVar - ADSSL1 - - - SwissProt - Q8N142 - - - Reactome - Q8N142 - - - HGNC - 20093 - - - - - 14q32.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 480864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480864 - Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome - - Disease - - - Disorder - - - - 26805781[PMID]_26805782[PMID] - - transport and golgi organization 2 homolog - TANGO2 - - DKFZp761P1121 - - - gene with protein product - - - - Ensembl - ENSG00000183597 - - - Genatlas - TANGO2 - - - ClinVar - TANGO2 - - - HGNC - 25439 - - - OMIM - 616830 - - - SwissProt - Q6ICL3 - - - - - 22q11.21 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 31837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31837 - Pulmonary venoocclusive disease - - Disease - - - Disorder - - - - 12446270[PMID]_18626305[PMID] - - bone morphogenetic protein receptor type 2 - BMPR2 - - BMPR-II - BMPR3 - BRK-3 - T-ALK - - - gene with protein product - - - - Ensembl - ENSG00000204217 - - - Genatlas - BMPR2 - - - HGNC - 1078 - - - IUPHAR - 1794 - - - OMIM - 600799 - - - Reactome - Q13873 - - - SwissProt - Q13873 - - - ClinVar - BMPR2 - - - - - 2q33.1-q33.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 24292273[PMID] - - eukaryotic translation initiation factor 2 alpha kinase 4 - EIF2AK4 - - GCN2 - KIAA1338 - eIF-2-alpha kinase - - - gene with protein product - - - - Ensembl - ENSG00000128829 - - - Genatlas - EIF2AK4 - - - HGNC - 19687 - - - IUPHAR - 2018 - - - OMIM - 609280 - - - SwissProt - Q9P2K8 - - - ClinVar - EIF2AK4 - - - - - 15q15.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 480907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480907 - X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome - - Malformation syndrome - - - Disorder - - - - 26637982[PMID] - - TATA-box binding protein associated factor 1 - TAF1 - - DYT3/TAF1 - KAT4 - NSCL2 - TAFII250 - - - gene with protein product - - - - ClinVar - TAF1 - - - Genatlas - TAF1 - - - HGNC - 11535 - - - IUPHAR - 2231 - - - OMIM - 313650 - - - Reactome - P21675 - - - SwissProt - P21675 - - - Ensembl - ENSG00000147133 - - - - - Xq13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 480898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480898 - Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome - - Disease - - - Disorder - - - - 26942288[PMID] - - ER membrane protein complex subunit 1 - EMC1 - - - - gene with protein product - - - - SwissProt - Q8N766 - - - OMIM - 616846 - - - Ensembl - ENSG00000127463 - - - ClinVar - EMC1 - - - HGNC - 28957 - - - Genatlas - EMC1 - - - - - 1p36.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 480880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480880 - X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability - - Malformation syndrome - - - Disorder - - - - 26833328[PMID] - - ubiquitin specific peptidase 9 X-linked - USP9X - - DFFRX - FAF - MRX99 - fat facets-like, X-linked - FAF-X - - - gene with protein product - - - - ClinVar - USP9X - - - Ensembl - ENSG00000124486 - - - Genatlas - USP9X - - - HGNC - 12632 - - - OMIM - 300072 - - - Reactome - Q93008 - - - SwissProt - Q93008 - - - - - Xp11.4 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 31740 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31740 - Hypersensitivity pneumonitis - - Disease - - - Disorder - - - - 28648751[PMID] - - mucin 5B, oligomeric mucus/gel-forming - MUC5B - - MG1 - mucin MG1 - MUC-5B - - - gene with protein product - - - - Ensembl - ENSG00000117983 - - - Genatlas - MUC5B - - - HGNC - 7516 - - - OMIM - 600770 - - - Reactome - Q9HC84 - - - SwissProt - Q9HC84 - - - ClinVar - MUC5B - - - - - 11p15.5 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 480556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480556 - Isolated neonatal sclerosing cholangitis - - Disease - - - Disorder - - - - 27319779_27469900[PMID] - - doublecortin domain containing 2 - DCDC2 - - DCDC2A - KIAA1154 - NPHP19 - RU2 - nephronophthisis 19 - - - gene with protein product - - - - Ensembl - ENSG00000146038 - - - Genatlas - DCDC2 - - - HGNC - 18141 - - - OMIM - 605755 - - - SwissProt - Q9UHG0 - - - Reactome - Q9UHG0 - - - ClinVar - DCDC2 - - - - - 6p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 480541 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480541 - High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement - - Disease - - - Disorder - - - - 21119107[PMID]_27888878[PMID]_27717585[PMID] - - BCL6 transcription repressor - BCL6 - - BCL5 - BCL6A - LAZ3 - ZBTB27 - - - gene with protein product - - - - ClinVar - BCL6 - - - Reactome - P41182 - - - IUPHAR - 2957 - - - Ensembl - ENSG00000113916 - - - Genatlas - BCL6 - - - HGNC - 1001 - - - OMIM - 109565 - - - SwissProt - P41182 - - - - - 3q27.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 21119107[PMID]_27888878[PMID]_27717585[PMID] - - MYC proto-oncogene, bHLH transcription factor - MYC - - MYCC - bHLHe39 - c-Myc - - - gene with protein product - - - - Ensembl - ENSG00000136997 - - - Genatlas - MYC - - - HGNC - 7553 - - - OMIM - 190080 - - - Reactome - P01106 - - - SwissProt - P01106 - - - ClinVar - MYC - - - - - 8q24.21 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 21119107[PMID]_27888878[PMID]_27717585[PMID] - - BCL2 apoptosis regulator - BCL2 - - Bcl-2 - PPP1R50 - protein phosphatase 1, regulatory subunit 50 - - - gene with protein product - - - - IUPHAR - 2844 - - - ClinVar - BCL2 - - - Ensembl - ENSG00000171791 - - - Genatlas - BCL2 - - - HGNC - 990 - - - OMIM - 151430 - - - Reactome - P10415 - - - SwissProt - P10415 - - - - - 18q21.33 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 31709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31709 - Infantile convulsions and choreoathetosis - - Disease - - - Disorder - - - - 32467598[PMID] - - phosphodiesterase 2A - PDE2A - - - - gene with protein product - - - - SwissProt - O00408 - - - HGNC - 8777 - - - Ensembl - ENSG00000186642 - - - OMIM - 602658 - - - IUPHAR - 1297 - - - - - 11q13.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22243967[PMID] - - proline rich transmembrane protein 2 - PRRT2 - - interferon induced transmembrane protein domain containing 1 - dispanin subfamily B member 3 - DKFZp547J199 - DSPB3 - EKD1 - FICCA - FLJ25513 - IFITMD1 - Interferon induced transmembrane protein domain containing 1 - PKC - Paroxysmal kinesigenic dyskinesia - Episodic kinesigenic dyskinesia 1 - - - gene with protein product - - - - Ensembl - ENSG00000167371 - - - Genatlas - PRRT2 - - - HGNC - 30500 - - - OMIM - 614386 - - - SwissProt - Q7Z6L0 - - - ClinVar - PRRT2 - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26677014[PMID] - - sodium voltage-gated channel alpha subunit 8 - SCN8A - - CIAT - CerIII - NaCh6 - Nav1.6 - PN4 - - - gene with protein product - - - - Ensembl - ENSG00000196876 - - - Genatlas - SCN8A - - - HGNC - 10596 - - - IUPHAR - 583 - - - OMIM - 600702 - - - Reactome - Q9UQD0 - - - SwissProt - Q9UQD0 - - - ClinVar - SCN8A - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 480851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480851 - Hereditary thrombocytopenia with early-onset myelofibrosis - - Disease - - - Disorder - - - - 26936507[PMID] - - SRC proto-oncogene, non-receptor tyrosine kinase - SRC - - ASV - c-src - - - gene with protein product - - - - Ensembl - ENSG00000197122 - - - HGNC - 11283 - - - OMIM - 190090 - - - Genatlas - SRC - - - IUPHAR - 2206 - - - ClinVar - SRC - - - SwissProt - P12931 - - - Reactome - P12931 - - - - - 20q11.23 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 480682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480682 - POGLUT1-related limb-girdle muscular dystrophy R21 - - Disease - - - Disorder - - - - 27807076[PMID] - - protein O-glucosyltransferase 1 - POGLUT1 - - 9630046K23Rik - KDELC family like 1 - KDELCL1 - MDS010 - MDSRP - MGC32995 - Rumi - hCLP46 - - - gene with protein product - - - - Ensembl - ENSG00000163389 - - - Genatlas - POGLUT1 - - - HGNC - 22954 - - - OMIM - 615618 - - - Reactome - Q8NBL1 - - - SwissProt - Q8NBL1 - - - ClinVar - POGLUT1 - - - - - 3q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 481665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481665 - USP18 deficiency - - Disease - - - Disorder - - - - 27325888[PMID]_27821552[PMID] - - ubiquitin specific peptidase 18 - USP18 - - Ubl carboxyl-terminal hydrolase 18 - - - gene with protein product - - - - Genatlas - USP18 - - - Reactome - Q9UMW8 - - - SwissProt - Q9UMW8 - - - Ensembl - ENSG00000184979 - - - HGNC - 12616 - - - OMIM - 607057 - - - ClinVar - USP18 - - - - - 22q11.21 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 482077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482077 - HTRA1-related autosomal dominant cerebral small vessel disease - - Disease - - - Disorder - - - - 26063658[PMID] - - HtrA serine peptidase 1 - HTRA1 - - ARMD7 - HtrA - IGFBP5-protease - - - gene with protein product - - - - ClinVar - HTRA1 - - - Ensembl - ENSG00000166033 - - - Genatlas - HTRA1 - - - HGNC - 9476 - - - OMIM - 602194 - - - SwissProt - Q92743 - - - IUPHAR - 3194 - - - Reactome - Q92743 - - - - - 10q26.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 481986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481986 - Familial schizencephaly - - Etiological subtype - - - Subtype of disorder - - - - 23225343[PMID]_25500781[PMID]_26576802[PMID] - - collagen type IV alpha 1 chain - COL4A1 - - - - gene with protein product - - - - ClinVar - COL4A1 - - - Ensembl - ENSG00000187498 - - - Genatlas - COL4A1 - - - HGNC - 2202 - - - OMIM - 120130 - - - Reactome - P02462 - - - SwissProt - P02462 - - - - - 13q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 481152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481152 - PYCR2-related microcephaly-progressive leukoencephalopathy - - Malformation syndrome - - - Disorder - - - - 25865492[PMID]_27130255[PMID] - - pyrroline-5-carboxylate reductase 2 - PYCR2 - - P5CR2 - - - gene with protein product - - - - HGNC - 30262 - - - Ensembl - ENSG00000143811 - - - OMIM - 616406 - - - SwissProt - Q96C36 - - - Genatlas - PYCR2 - - - Reactome - R-HSA-6783954 - - - ClinVar - PYCR2 - - - - - 1q42.12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 481662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481662 - Familial Chilblain lupus - - Disease - - - Disorder - - - - 27566796[PMID] - - SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 - SAMHD1 - - AGS5 - Aicardi-Goutieres syndrome 5 - HD domain containing 1 - HDDC1 - MOP-5 - Mg11 - SBBI88 - monocyte protein 5 - - - gene with protein product - - - - OMIM - 606754 - - - Reactome - Q9Y3Z3 - - - SwissProt - Q9Y3Z3 - - - Ensembl - ENSG00000101347 - - - Genatlas - SAMHD1 - - - HGNC - 15925 - - - ClinVar - SAMHD1 - - - - - 20q11.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 27566796[PMID] - - three prime repair exonuclease 1 - TREX1 - - DRN3 - - - gene with protein product - - - - Genatlas - TREX1 - - - HGNC - 12269 - - - OMIM - 606609 - - - Reactome - Q9NSU2 - - - SwissProt - Q9NSU2 - - - Ensembl - ENSG00000213689 - - - ClinVar - TREX1 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 27566796[PMID] - - stimulator of interferon response cGAMP interactor 1 - STING1 - - MITA - MPYS - stimulator of interferon genes - endoplasmic reticulum IFN stimulator - STING - ERIS - FLJ38577 - NET23 - - - gene with protein product - - - - Ensembl - ENSG00000184584 - - - Genatlas - TMEM173 - - - HGNC - 27962 - - - OMIM - 612374 - - - Reactome - Q86WV6 - - - SwissProt - Q86WV6 - - - IUPHAR - 2902 - - - ClinVar - TMEM173 - - - - - 5q31.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 480476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480476 - Progressive familial intrahepatic cholestasis type 5 - - Clinical subtype - - - Subtype of disorder - - - - 26888176[PMID] - - nuclear receptor subfamily 1 group H member 4 - NR1H4 - - FXR - HRR-1 - HRR1 - RIP14 - farnesoid X receptor - bile acid receptor - - - gene with protein product - - - - Genatlas - NR1H4 - - - HGNC - 7967 - - - IUPHAR - 603 - - - OMIM - 603826 - - - Reactome - Q96RI1 - - - SwissProt - Q96RI1 - - - Ensembl - ENSG00000012504 - - - ClinVar - NR1H4 - - - - - 12q23.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 480491 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480491 - MYO5B-related progressive familial intrahepatic cholestasis - - Clinical subtype - - - Subtype of disorder - - - - 27532546[PMID] - - myosin VB - MYO5B - - KIAA1119 - - - gene with protein product - - - - Ensembl - ENSG00000167306 - - - Genatlas - MYO5B - - - HGNC - 7603 - - - OMIM - 606540 - - - Reactome - Q9ULV0 - - - SwissProt - Q9ULV0 - - - ClinVar - MYO5B - - - - - 18q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 480483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480483 - Progressive familial intrahepatic cholestasis type 4 - - Clinical subtype - - - Subtype of disorder - - - - 26983395[PMID]_24614073[PMID] - - tight junction protein 2 - TJP2 - - Friedreich ataxia region gene X104 (tight junction protein ZO-2) - X104 - ZO-2 - ZO2 - zona occludens 2 - - - gene with protein product - - - - Ensembl - ENSG00000119139 - - - Genatlas - TJP2 - - - HGNC - 11828 - - - OMIM - 607709 - - - Reactome - Q9UDY2 - - - SwissProt - Q9UDY2 - - - ClinVar - TJP2 - - - - - 9q21.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 480528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480528 - Lethal hydranencephaly-diaphragmatic hernia syndrome - - Malformation syndrome - - - Disorder - - - - 27417437[PMID]_6401391[PMID]_665314[PMID] - - plasminogen activator, tissue type - PLAT - - - - gene with protein product - - - - ClinVar - PLAT - - - Ensembl - ENSG00000104368 - - - SwissProt - P00750 - - - OMIM - 173370 - - - Genatlas - PLAT - - - Reactome - P00750 - - - IUPHAR - 2392 - - - HGNC - 9051 - - - - - 8p11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 480536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480536 - MSH3-related polyposis - - Disease - - - Disorder - - - - 27476653[PMID] - - mutS homolog 3 - MSH3 - - Divergent upstream protein - DUP - Mismatch repair protein 1 - MRP1 - - - gene with protein product - - - - ClinVar - MSH3 - - - OMIM - 600887 - - - Genatlas - MSH3 - - - Reactome - P20585 - - - HGNC - 7326 - - - Ensembl - ENSG00000113318 - - - SwissProt - P20585 - - - - - 5q14.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 477814 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477814 - Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome - - Malformation syndrome - - - Disorder - - - - 24781755[PMID]_2643574[PMID] - - diaphanous related formin 1 - DIAPH1 - - LFHL1 - hDIA1 - mDia1 - mammalian diaphanous related formin 1 - - - gene with protein product - - - - Ensembl - ENSG00000131504 - - - Genatlas - DIAPH1 - - - HGNC - 2876 - - - OMIM - 602121 - - - Reactome - O60610 - - - SwissProt - O60610 - - - ClinVar - DIAPH1 - - - - - 5q31.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 477787 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477787 - Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder - - Disease - - - Disorder - - - - 25102815[PMID]_18451993[PMID] - - phospholipase A2 group IVA - PLA2G4A - - cPLA2-alpha - - - gene with protein product - - - - ClinVar - PLA2G4A - - - Reactome - P47712 - - - Ensembl - ENSG00000116711 - - - IUPHAR - 1424 - - - HGNC - 9035 - - - OMIM - 600522 - - - Genatlas - PLA2G4A - - - SwissProt - P47712 - - - - - 1q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 478029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478029 - Combined oxidative phosphorylation defect type 29 - - Disease - - - Disorder - - - - 26626369[PMID] - - thioredoxin 2 - TXN2 - - MT-TRX - - - gene with protein product - - - - HGNC - 17772 - - - Ensembl - ENSG00000100348 - - - OMIM - 609063 - - - Genatlas - TXN2 - - - ClinVar - TXN2 - - - SwissProt - Q99757 - - - Reactome - Q99757 - - - - - 22q12.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 478042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478042 - Combined oxidative phosphorylation defect type 30 - - Disease - - - Disorder - - - - 27132592[PMID] - - tRNA methyltransferase 10C, mitochondrial RNase P subunit - TRMT10C - - FLJ20432 - mitochondrial RNase P subunit 1 - MRPP1 - - - gene with protein product - - - - Ensembl - ENSG00000174173 - - - HGNC - 26022 - - - SwissProt - Q7L0Y3 - - - Reactome - Q7L0Y3 - - - OMIM - 615423 - - - Genatlas - TRMT10C - - - ClinVar - TRMT10C - - - - - 3q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 477993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477993 - Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome - - Malformation syndrome - - - Disorder - - - - 24838796[PMID]_26656649[PMID] - - lysine demethylase 1A - KDM1A - - BHC110 - KIAA0601 - LSD1 - Lysine-specific histone demethylase 1A - - - gene with protein product - - - - HGNC - 29079 - - - Genatlas - KDM1A - - - SwissProt - O60341 - - - Reactome - O60341 - - - OMIM - 609132 - - - Ensembl - ENSG00000004487 - - - IUPHAR - 2669 - - - ClinVar - KDM1A - - - - - 1p36.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 477857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477857 - Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency - - Disease - - - Disorder - - - - 26160376[PMID] - - RAR related orphan receptor C - RORC - - RORG - RZRG - NR1F3 - TOR - Nuclear receptor ROR-gamma - - - gene with protein product - - - - SwissProt - P51449 - - - IUPHAR - 600 - - - Reactome - P51449 - - - Genatlas - RORC - - - ClinVar - RORC - - - Ensembl - ENSG00000143365 - - - HGNC - 10260 - - - OMIM - 602943 - - - - - 1q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 477817 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477817 - PMP22-RAI1 contiguous gene duplication syndrome - - Malformation syndrome - - - Disorder - - - - 26544804[PMID] - - retinoic acid induced 1 - RAI1 - - DKFZP434A139 - KIAA1820 - MGC12824 - SMS - - - gene with protein product - - - - ClinVar - RAI1 - - - Ensembl - ENSG00000108557 - - - Genatlas - RAI1 - - - HGNC - 9834 - - - OMIM - 607642 - - - Reactome - Q7Z5J4 - - - SwissProt - Q7Z5J4 - - - - - 17p11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 477831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477831 - Kosaki overgrowth syndrome - - Malformation syndrome - - - Disorder - - - - 25454926[PMID]_26455322[PMID] - - platelet derived growth factor receptor beta - PDGFRB - - CD140b - JTK12 - PDGFR1 - - - gene with protein product - - - - ClinVar - PDGFRB - - - Ensembl - ENSG00000113721 - - - Genatlas - PDGFRB - - - HGNC - 8804 - - - IUPHAR - 1804 - - - OMIM - 173410 - - - Reactome - P09619 - - - SwissProt - P09619 - - - - - 5q32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 478049 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478049 - Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome - - Disease - - - Disorder - - - - 27799064[PMID]_25778941[PMID] - - mitochondrial intermediate peptidase - MIPEP - - MIP - - - gene with protein product - - - - Genatlas - MIPEP - - - OMIM - 602241 - - - HGNC - 7104 - - - ClinVar - MIPEP - - - Ensembl - ENSG00000027001 - - - SwissProt - Q99797 - - - - - 13q12.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 478664 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478664 - Hereditary sensory and autonomic neuropathy type 8 - - Disease - - - Disorder - - - - 26005867[PMID]_26975306[PMID]_28050684[PMID] - - PR/SET domain 12 - PRDM12 - - PFM9 - PR-domain containing protein 12 - PR-domain zinc finger protein 12 - - - gene with protein product - - - - SwissProt - Q9H4Q4 - - - Ensembl - ENSG00000130711 - - - Genatlas - PRDM12 - - - ClinVar - PRDM12 - - - HGNC - 13997 - - - OMIM - 616458 - - - - - 9q34.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 477661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477661 - IL21-related infantile inflammatory bowel disease - - Disease - - - Disorder - - - - 19890111[PMID]_24746753[PMID] - - interleukin 21 - IL21 - - IL-21 - Za11 - - - gene with protein product - - - - Ensembl - ENSG00000138684 - - - Genatlas - IL21 - - - HGNC - 6005 - - - OMIM - 605384 - - - SwissProt - Q9HBE4 - - - ClinVar - IL21 - - - - - 4q27 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 477684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477684 - Combined oxidative phosphorylation defect type 26 - - Disease - - - Disorder - - - - 26189817[PMID] - - tRNA methyltransferase 5 - TRMT5 - - TRM5 - tRNA (guanine(37)-N1)-methyltransferase - - - gene with protein product - - - - ClinVar - TRMT5 - - - Ensembl - ENSG00000126814 - - - HGNC - 23141 - - - OMIM - 611023 - - - Genatlas - TRMT5 - - - SwissProt - Q32P41 - - - Reactome - Q32P41 - - - - - 14q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 477673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477673 - Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome - - Disease - - - Disorder - - - - 25758935[PMID]_27601654[PMID] - - glutamic--pyruvic transaminase 2 - GPT2 - - ALT2 - alanine aminotransferase 2 - - - gene with protein product - - - - HGNC - 18062 - - - Genatlas - GPT2 - - - Ensembl - ENSG00000166123 - - - ClinVar - GPT2 - - - Reactome - Q8TD30 - - - SwissProt - Q8TD30 - - - OMIM - 138210 - - - - - 16q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 477738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477738 - Pediatric multiple sclerosis - - Disease - - - Disorder - - - - 14669136[PMID]_8181961[PMID] - - major histocompatibility complex, class II, DQ beta 1 - HLA-DQB1 - - CELIAC1 - IDDM1 - - - gene with protein product - - - - ClinVar - HLA-DQB1 - - - Ensembl - ENSG00000179344 - - - Genatlas - HLA-DQB1 - - - HGNC - 4944 - - - OMIM - 604305 - - - Reactome - P01920 - - - SwissProt - P01920 - - - - - 6p21.32 - 1 - - - - - Biomarker tested in - - - Not yet assessed - - - - 14669136[PMID]_8181961[PMID] - - major histocompatibility complex, class II, DR beta 1 - HLA-DRB1 - - - - gene with protein product - - - - ClinVar - HLA-DRB1 - - - Ensembl - ENSG00000196126 - - - Genatlas - HLA-DRB1 - - - HGNC - 4948 - - - OMIM - 142857 - - - Reactome - P04229 - - - SwissProt - P01911 - - - - - 6p21.32 - 1 - - - - - Biomarker tested in - - - Not yet assessed - - - - - - 477749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477749 - Pontine autosomal dominant microangiopathy with leukoencephalopathy - - Disease - - - Disorder - - - - 27666438[PMID] - - collagen type IV alpha 1 chain - COL4A1 - - - - gene with protein product - - - - ClinVar - COL4A1 - - - Ensembl - ENSG00000187498 - - - Genatlas - COL4A1 - - - HGNC - 2202 - - - OMIM - 120130 - - - Reactome - P02462 - - - SwissProt - P02462 - - - - - 13q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 477742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477742 - Nodular fasciitis - - Disease - - - Disorder - - - - 21826056[PMID] - - ubiquitin specific peptidase 6 - USP6 - - TBC1D3 and USP32 fusion - Tre-2 - Tre-2 oncogene - TRE17 - Tre2 - ubiquitin carboxyl-terminal hydrolase 6 - - - gene with protein product - - - - HGNC - 12629 - - - OMIM - 604334 - - - Genatlas - USP6 - - - Ensembl - ENSG00000129204 - - - SwissProt - P35125 - - - ClinVar - USP6 - - - - - 17p13.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 21826056[PMID] - - myosin heavy chain 9 - MYH9 - - EPSTS - FTNS - MHA - NMHC-II-A - NMMHCA - nonmuscle myosin heavy chain II-A - - - gene with protein product - - - - ClinVar - MYH9 - - - Ensembl - ENSG00000100345 - - - Genatlas - MYH9 - - - HGNC - 7579 - - - OMIM - 160775 - - - Reactome - P35579 - - - SwissProt - P35579 - - - - - 22q12.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 477774 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477774 - Combined oxidative phosphorylation defect type 27 - - Disease - - - Disorder - - - - 25787132[PMID]_25361775[PMID] - - cysteinyl-tRNA synthetase 2, mitochondrial - CARS2 - - FLJ12118 - cysteine tRNA ligase 2, mitochondrial (putative) - - - gene with protein product - - - - Reactome - Q9HA77 - - - HGNC - 25695 - - - Genatlas - CARS2 - - - Ensembl - ENSG00000134905 - - - SwissProt - Q9HA77 - - - OMIM - 612800 - - - ClinVar - CARS2 - - - - - 13q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 476119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476119 - Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome - - Malformation syndrome - - - Disorder - - - - 25782671[PMID] - - sonic hedgehog signaling molecule - SHH - - HHG1 - MCOPCB5 - SMMCI - TPT - TPTPS - - - gene with protein product - - - - ClinVar - SHH - - - Ensembl - ENSG00000164690 - - - Genatlas - SHH - - - HGNC - 10848 - - - OMIM - 600725 - - - Reactome - Q15465 - - - SwissProt - Q15465 - - - - - 7q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 476113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476113 - Combined immunodeficiency due to TFRC deficiency - - Disease - - - Disorder - - - - 26642240[PMID] - - transferrin receptor - TFRC - - p90 - TFR1 - CD71 - - - gene with protein product - - - - ClinVar - TFRC - - - Genatlas - TFRC - - - OMIM - 190010 - - - Ensembl - ENSG00000072274 - - - IUPHAR - 3196 - - - SwissProt - P02786 - - - Reactome - P02786 - - - HGNC - 11763 - - - - - 3q29 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 476126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476126 - Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - 26721934[PMID] - - trio Rho guanine nucleotide exchange factor - TRIO - - ARHGEF23 - - - gene with protein product - - - - HGNC - 12303 - - - Genatlas - TRIO - - - SwissProt - O75962 - - - OMIM - 601893 - - - IUPHAR - 2255 - - - Reactome - O75962 - - - Ensembl - ENSG00000038382 - - - ClinVar - TRIO - - - - - 5p15.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 476406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476406 - Congenital generalized hypercontractile muscle stiffness syndrome - - Disease - - - Disorder - - - - 26418456[PMID] - - tropomyosin 3 - TPM3 - - TRK - - - gene with protein product - - - - OMIM - 191030 - - - Reactome - P06753 - - - SwissProt - P06753 - - - Ensembl - ENSG00000143549 - - - Genatlas - TPM3 - - - HGNC - 12012 - - - ClinVar - TPM3 - - - - - 1q21.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 476394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476394 - PMP2-related Charcot-Marie-Tooth disease type 1 - - Disease - - - Disorder - - - - 26828946[PMID] - - peripheral myelin protein 2 - PMP2 - - MP2 - M-FABP - FABP8 - - - gene with protein product - - - - SwissProt - P02689 - - - Genatlas - PMP2 - - - ClinVar - PMP2 - - - Ensembl - ENSG00000147588 - - - OMIM - 170715 - - - HGNC - 9117 - - - IUPHAR - 2544 - - - - - 8q21.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 493342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=493342 - Vibratory urticaria - - Disease - - - Disorder - - - - 26841242[PMID] - - adhesion G protein-coupled receptor E2 - ADGRE2 - - CD312 - - - gene with protein product - - - - IUPHAR - 183 - - - HGNC - 3337 - - - Ensembl - ENSG00000127507 - - - SwissProt - Q9UHX3 - - - OMIM - 606100 - - - Reactome - Q9UHX3 - - - - - 19p13.12 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 488642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488642 - TELO2-related intellectual disability-neurodevelopmental disorder - - Malformation syndrome - - - Disorder - - - - 27132593[PMID] - - telomere maintenance 2 - TELO2 - - hCLK2 - KIAA0683 - TEL2 - - - gene with protein product - - - - Ensembl - ENSG00000100726 - - - SwissProt - Q9Y4R8 - - - OMIM - 611140 - - - Genatlas - TELO2 - - - Reactome - Q9Y4R8 - - - ClinVar - TELO2 - - - HGNC - 29099 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 488647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488647 - DDX41-related hematologic malignancy predisposition syndrome - - Disease - - - Disorder - - - - 26712909[PMID]_25920683[PMID] - - DEAD-box helicase 41 - DDX41 - - ABS - MGC8828 - Abstrakt - - - gene with protein product - - - - Genatlas - DDX41 - - - SwissProt - Q9UJV9 - - - OMIM - 608170 - - - ClinVar - DDX41 - - - HGNC - 18674 - - - Reactome - Q9UJV9 - - - Ensembl - ENSG00000183258 - - - - - 5q35.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 488650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488650 - Distal myopathy, Tateyama type - - Disease - - - Disorder - - - - 11805270[PMID]_18930476[PMID] - - caveolin 3 - CAV3 - - LGMD1C - LQT9 - M-caveolin - VIP-21 - VIP21 - - - gene with protein product - - - - Ensembl - ENSG00000182533 - - - Genatlas - CAV3 - - - HGNC - 1529 - - - OMIM - 601253 - - - Reactome - P56539 - - - SwissProt - P56539 - - - ClinVar - CAV3 - - - - - 3p25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 488618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488618 - Transketolase deficiency - - Malformation syndrome - - - Disorder - - - - 27259054[PMID] - - transketolase - TKT - - Wernicke-Korsakoff syndrome - - - gene with protein product - - - - HGNC - 11834 - - - Ensembl - ENSG00000163931 - - - SwissProt - P29401 - - - OMIM - 606781 - - - Genatlas - TKT - - - Reactome - P29401 - - - ClinVar - TKT - - - - - 3p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 488627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488627 - Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - 27055666[PMID] - - pseudouridine synthase 3 - PUS3 - - FKSG32 - tRNA-uridine isomerase 3 - tRNA pseudouridine(38/39) synthase - DEG1 - - - gene with protein product - - - - HGNC - 25461 - - - SwissProt - Q9BZE2 - - - ClinVar - PUS3 - - - Ensembl - ENSG00000110060 - - - OMIM - 616283 - - - Genatlas - PUS3 - - - Reactome - Q9BZE2 - - - - - 11q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 488632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488632 - TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - 27040691[PMID]_27040692[PMID]_27275012[PMID]_27748029[PMID]_18541960[PMID] - - TBC1 domain containing kinase - TBCK - - HSPC302 - MGC16169 - FERRY1 - Fy-1 - - - gene with protein product - - - - HGNC - 28261 - - - Ensembl - ENSG00000145348 - - - SwissProt - Q8TEA7 - - - OMIM - 616899 - - - Genatlas - TBCK - - - ClinVar - TBCK - - - IUPHAR - 2236 - - - - - 4q24 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 488635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488635 - Early-onset epilepsy-intellectual disability-brain anomalies syndrome - - Disease - - - Disorder - - - - 26996948[PMID]_28581210[PMID] - - phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) - PIGG - - LAS21 (GPI7) homolog (S. cerevisiae) - FLJ20265 - GPI7 - LAS21 - GPI ethanolamine phosphate transferase 2 - - - gene with protein product - - - - SwissProt - Q5H8A4 - - - OMIM - 616918 - - - Genatlas - PIGG - - - Reactome - Q5H8A4 - - - ClinVar - PIGG - - - HGNC - 25985 - - - Ensembl - ENSG00000174227 - - - - - 4p16.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 488265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488265 - Osteofibrous dysplasia - - Disease - - - Disorder - - - - 26637977[PMID]_8276381[PMID]_9234973[PMID] - - MET proto-oncogene, receptor tyrosine kinase - MET - - DFNB97 - HGFR - RCCP2 - hepatocyte growth factor receptor - - - gene with protein product - - - - Ensembl - ENSG00000105976 - - - Genatlas - MET - - - HGNC - 7029 - - - IUPHAR - 1815 - - - OMIM - 164860 - - - Reactome - P08581 - - - SwissProt - P08581 - - - ClinVar - MET - - - - - 7q31.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 488232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232 - Split-foot malformation-mesoaxial polydactyly syndrome - - Malformation syndrome - - - Disorder - - - - 26755636[PMID] - - mitogen-activated protein kinase kinase kinase 20 - MAP3K20 - - mixed lineage kinase 7 - MLK7 - MLTK - MLTKalpha - MLTKbeta - MRK - ZAK - ZAK1 homolog, leucine zipper and sterile-alpha motif kinase (Dictyostelium) - - - gene with protein product - - - - HGNC - 17797 - - - Ensembl - ENSG00000091436 - - - OMIM - 609479 - - - IUPHAR - 2289 - - - SwissProt - Q9NYL2 - - - Reactome - Q9NYL2 - - - - - 2q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 488333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488333 - Autosomal dominant Charcot-Marie-Tooth disease type 2W - - Disease - - - Disorder - - - - 26072516[PMID] - - histidyl-tRNA synthetase 1 - HARS1 - - histidine tRNA ligase 1, cytoplasmic - Histidine tRNA ligase 1, cytoplasmic - Jo-1 antigen - HisRS - Jo‐1 antigen - - - gene with protein product - - - - Ensembl - ENSG00000170445 - - - Genatlas - HARS - - - HGNC - 4816 - - - OMIM - 142810 - - - Reactome - P12081 - - - SwissProt - P12081 - - - ClinVar - HARS - - - - - 5q31.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 488437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488437 - SIX2-related frontonasal dysplasia - - Malformation syndrome - - - Disorder - - - - 26581443[PMID]_27920634[PMID] - - SIX homeobox 2 - SIX2 - - - - gene with protein product - - - - SwissProt - Q9NPC8 - - - OMIM - 604994 - - - Genatlas - SIX2 - - - ClinVar - SIX2 - - - HGNC - 10888 - - - Ensembl - ENSG00000170577 - - - - - 2p21 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 488613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488613 - Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - 27108799[PMID]_28087732[PMID]_27668284[PMID] - - G protein subunit beta 1 - GNB1 - - guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 - transducin beta chain 1 - - - gene with protein product - - - - HGNC - 4396 - - - Ensembl - ENSG00000078369 - - - SwissProt - P62873 - - - OMIM - 139380 - - - Genatlas - GNB1 - - - Reactome - P62873 - - - ClinVar - GNB1 - - - - - 1p36.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 488594 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488594 - Autosomal recessive spastic paraplegia type 76 - - Disease - - - Disorder - - - - 201727153400[PMID] - - calpain 1 - CAPN1 - - CANP - CANPL1 - muCANP - muCL - - - gene with protein product - - - - ClinVar - CAPN1 - - - IUPHAR - 2336 - - - HGNC - 1476 - - - Ensembl - ENSG00000014216 - - - SwissProt - P07384 - - - OMIM - 114220 - - - Genatlas - CAPN1 - - - - - 11q13.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 488197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488197 - Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome - - Disease - - - Disorder - - - - 26056285[PMID]_26159420[PMID] - - microRNA 204 - MIR204 - - hsa-mir-204 - - - Non-coding RNA - - - - HGNC - 31582 - - - SwissProt - - - - Ensembl - ENSG00000207935 - - - OMIM - 610942 - - - - - 9q21.12 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 488168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488168 - Microcephaly-congenital cataract-psoriasiform dermatitis syndrome - - Malformation syndrome - - - Disorder - - - - 21285510[PMID]_24144731[PMID]_23042573[PMID] - - methylsterol monooxygenase 1 - MSMO1 - - ERG25 - DESP4 - - - gene with protein product - - - - OMIM - 607545 - - - Reactome - Q15800 - - - HGNC - 10545 - - - Ensembl - ENSG00000052802 - - - SwissProt - Q15800 - - - - - 4q32.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 488191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488191 - Female infertility due to oocyte meiotic arrest - - Disease - - - Disorder - - - - 26537248[PMID] - - TLE family member 6, subcortical maternal complex member - TLE6 - - - - gene with protein product - - - - HGNC - 30788 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29606300[PMID] - - WEE2 oocyte meiosis inhibiting kinase - WEE2 - - WEE1B - FLJ16107 - - - gene with protein product - - - - HGNC - 19684 - - - Ensembl - ENSG00000214102 - - - SwissProt - P0C1S8 - - - OMIM - 614084 - - - Genatlas - WEE2 - - - IUPHAR - 2279 - - - ClinVar - WEE2 - - - - - 7q34 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 33495594[PMID] - - pannexin 1 - PANX1 - - MRS1 - UNQ2529 - PX1 - innexin - - - gene with protein product - - - - HGNC - 8599 - - - Ensembl - ENSG00000110218 - - - SwissProt - Q96RD7 - - - Reactome - Q96RD7 - - - IUPHAR - 735 - - - OMIM - 608420 - - - - - 11q21 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 28965849[PMID] - - PAT1 homolog 2 - PATL2 - - Pat1a - - - gene with protein product - - - - HGNC - 33630 - - - Ensembl - ENSG00000229474 - - - SwissProt - C9JE40 - - - OMIM - 614661 - - - Genatlas - PATL2 - - - ClinVar - PATL2 - - - - - 15q21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 26789871[PMID] - - tubulin beta 8 class VIII - TUBB8 - - bA631M21.2 - class VIII beta-tubulin - - - gene with protein product - - - - IUPHAR - 2753 - - - ClinVar - TUBB8 - - - HGNC - 20773 - - - Ensembl - ENSG00000261456 - - - SwissProt - Q3ZCM7 - - - OMIM - 616768 - - - Genatlas - TUBB8 - - - Reactome - Q3ZCM7 - - - - - 10p15.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 487796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487796 - Takenouchi-Kosaki syndrome - - Malformation syndrome - - - Disorder - - - - 26386261[PMID]_26708094[PMID] - - cell division cycle 42 - CDC42 - - GTP binding protein, 25kDa - CDC42Hs - G25K - - - gene with protein product - - - - HGNC - 1736 - - - Genatlas - CDC42 - - - Reactome - P60953 - - - OMIM - 116952 - - - ClinVar - CDC42 - - - SwissProt - P60953 - - - Ensembl - ENSG00000070831 - - - - - 1p36.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 487814 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487814 - Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation - - Disease - - - Disorder - - - - 26786738[PMID] - - diacylglycerol O-acyltransferase 2 - DGAT2 - - - - gene with protein product - - - - IUPHAR - 3211 - - - ClinVar - DGAT2 - - - HGNC - 16940 - - - Ensembl - ENSG00000062282 - - - SwissProt - Q96PD7 - - - OMIM - 606983 - - - Genatlas - DGAT2 - - - Reactome - Q96PD7 - - - - - 11q13.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 487825 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487825 - Pierpont syndrome - - Malformation syndrome - - - Disorder - - - - 26769062[PMID]_28562391[PMId]_21834056[PMID] - - TBL1X/Y related 1 - TBL1XR1 - - C21 - DC42 - FLJ12894 - IRA1 - TBLR1 - F-box-like/WD repeat-containing protein TBL1XR1 - TBL1-related protein - - - gene with protein product - - - - Ensembl - ENSG00000177565 - - - Genatlas - TBL1XR1 - - - HGNC - 29529 - - - OMIM - 608628 - - - Reactome - Q9BZK7 - - - SwissProt - Q9BZK7 - - - ClinVar - TBL1XR1 - - - - - 3q26.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 31150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31150 - Tangier disease - - Disease - - - Disorder - - - - 10535983[PMID] - - ATP binding cassette subfamily A member 1 - ABCA1 - - TGD - Tangier disease - - - gene with protein product - - - - IUPHAR - 756 - - - ClinVar - ABCA1 - - - Ensembl - ENSG00000165029 - - - Genatlas - ABCA1 - - - HGNC - 29 - - - OMIM - 600046 - - - Reactome - O95477 - - - SwissProt - O95477 - - - - - 9q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 31043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31043 - Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement - - Clinical subtype - - - Subtype of disorder - - - - 18816383[PMID]_11518780[PMID]_10878661[PMID] - - claudin 16 - CLDN16 - - HOMG3 - PCLN1 - hypomagnesemia 3, with hypercalciuria and nephrocalcinosis - paracellin-1 - - - gene with protein product - - - - ClinVar - CLDN16 - - - Ensembl - ENSG00000113946 - - - Genatlas - CLDN16 - - - HGNC - 2037 - - - OMIM - 603959 - - - Reactome - Q9Y5I7 - - - SwissProt - Q9Y5I7 - - - - - 3q28 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 31112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31112 - Dermatofibrosarcoma protuberans - - Disease - - - Disorder - - - - - - collagen type I alpha 1 chain - COL1A1 - - OI4 - - - gene with protein product - - - - ClinVar - COL1A1 - - - Ensembl - ENSG00000108821 - - - Genatlas - COL1A1 - - - HGNC - 2197 - - - OMIM - 120150 - - - Reactome - P02452 - - - SwissProt - P02452 - - - - - 17q21.33 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - platelet derived growth factor subunit B - PDGFB - - SSV - becaplermin - oncogene SIS - - - gene with protein product - - - - ClinVar - PDGFB - - - Ensembl - ENSG00000100311 - - - Genatlas - PDGFB - - - HGNC - 8800 - - - OMIM - 190040 - - - Reactome - P01127 - - - SwissProt - P01127 - - - - - 22q13.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 30924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30924 - Primary hypomagnesemia with secondary hypocalcemia - - Disease - - - Disorder - - - - 12032570[PMID]_12032568[PMID] - - transient receptor potential cation channel subfamily M member 6 - TRPM6 - - CHAK2 - FLJ22628 - - - gene with protein product - - - - ClinVar - TRPM6 - - - Ensembl - ENSG00000119121 - - - Genatlas - TRPM6 - - - HGNC - 17995 - - - IUPHAR - 498 - - - OMIM - 607009 - - - Reactome - Q9BX84 - - - SwissProt - Q9BX84 - - - - - 9q21.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 30925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30925 - Hereditary arginine vasopressin deficiency - - Clinical subtype - - - Subtype of disorder - - - - 14673472[PMID] - - arginine vasopressin - AVP - - ADH - antidiuretic hormone - copeptin - diabetes insipidus - neurohypophyseal - neurophysin II - prepro-AVP-NP II - prepro-arginine-vasopressin-neurophysin II - - - gene with protein product - - - - ClinVar - AVP - - - Ensembl - ENSG00000101200 - - - Genatlas - AVP - - - HGNC - 894 - - - OMIM - 192340 - - - Reactome - P01185 - - - SwissProt - P01185 - - - - - 20p13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 476084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476084 - BVES-related limb-girdle muscular dystrophy - - Disease - - - Disorder - - - - 26642364[PMID] - - popeye domain cAMP effector 1 - POPDC1 - - POPDC1 - HBVES - POP1 - popeye domain containing 1 - - - gene with protein product - - - - Genatlas - BVES - - - HGNC - 1152 - - - SwissProt - Q8NE79 - - - ClinVar - BVES - - - Ensembl - ENSG00000112276 - - - OMIM - 604577 - - - - - 6q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 476096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476096 - Erythrokeratodermia-cardiomyopathy syndrome - - Disease - - - Disorder - - - - 26604139[PMID] - - desmoplakin - DSP - - DPI - DPII - KPPS2 - PPKS2 - - - gene with protein product - - - - ClinVar - DSP - - - Ensembl - ENSG00000096696 - - - Genatlas - DSP - - - HGNC - 3052 - - - OMIM - 125647 - - - Reactome - P15924 - - - SwissProt - P15924 - - - - - 6p24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 476093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476093 - Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome - - Disease - - - Disorder - - - - 26718575[PMID] - - heat shock protein family B (small) member 8 - HSPB8 - - CMT2L - E2IG1 - H11 - HSP22 - HspB8 - - - gene with protein product - - - - ClinVar - HSPB8 - - - Ensembl - ENSG00000152137 - - - Genatlas - HSPB8 - - - HGNC - 30171 - - - OMIM - 608014 - - - Reactome - Q9UJY1 - - - SwissProt - Q9UJY1 - - - - - 12q24.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 71278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71278 - Congenital brain dysgenesis due to glutamine synthetase deficiency - - Disease - - - Disorder - - - - 16267323[PMID] - - glutamate-ammonia ligase - GLUL - - glutamine synthetase - - - gene with protein product - - - - Ensembl - ENSG00000135821 - - - Genatlas - GLUL - - - HGNC - 4341 - - - OMIM - 138290 - - - Reactome - P15104 - - - SwissProt - P15104 - - - ClinVar - GLUL - - - - - 1q25.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 71271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71271 - Split hand-split foot-deafness syndrome - - Malformation syndrome - - - Disorder - - - - 22121204[PMID] - - distal-less homeobox 5 - DLX5 - - - - gene with protein product - - - - Ensembl - ENSG00000105880 - - - Genatlas - DLX5 - - - HGNC - 2918 - - - OMIM - 600028 - - - SwissProt - P56178 - - - ClinVar - DLX5 - - - - - 7q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 71275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71275 - Rh deficiency syndrome - - Disease - - - Disorder - - - - 9657766[PMID]_9657769[PMID] - - Rh blood group CcEe antigens - RHCE - - CD240CE - SLC42A4 - - - gene with protein product - - - - ClinVar - RHCE - - - Ensembl - ENSG00000188672 - - - Genatlas - RHCE - - - HGNC - 10008 - - - OMIM - 111700 - - - SwissProt - P18577 - - - - - 1p36.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 9657769[PMID] - - Rh blood group D antigen - RHD - - CD240D - DIIIc - Rh30a - Rh4 - RhII - RhPI - SLC42A5 - - - gene with protein product - - - - ClinVar - RHD - - - Ensembl - ENSG00000187010 - - - Genatlas - RHD - - - HGNC - 10009 - - - OMIM - 111680 - - - SwissProt - Q02161 - - - - - 1p36.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 8563755[PMID]_9716608[PMID] - - Rh associated glycoprotein - RHAG - - CD241 - RH50A - SLC42A1 - Ammonium transporter Rh type A - - - gene with protein product - - - - ClinVar - RHAG - - - OMIM - 180297 - - - Reactome - Q02094 - - - SwissProt - Q02094 - - - Ensembl - ENSG00000112077 - - - Genatlas - RHAG - - - HGNC - 10006 - - - IUPHAR - 1198 - - - - - 6p12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 71277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71277 - Classic glucose transporter type 1 deficiency syndrome - - Disease - - - Disorder - - - - 20301603[PMID]_23890838[PMID] - - solute carrier family 2 member 1 - SLC2A1 - - DYT18 - DYT9 - GLUT-1 - dystonia gene 18 - dystonia gene 9 - - - gene with protein product - - - - ClinVar - SLC2A1 - - - IUPHAR - 875 - - - Ensembl - ENSG00000117394 - - - Genatlas - SLC2A1 - - - HGNC - 11005 - - - OMIM - 138140 - - - Reactome - P11166 - - - SwissProt - P11166 - - - - - 1p34.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 71212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71212 - Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency - - Disease - - - Disorder - - - - - - hydroxyacyl-CoA dehydrogenase - HADH - - HADH1 - SCHAD - - - gene with protein product - - - - ClinVar - HADH - - - Ensembl - ENSG00000138796 - - - Genatlas - HADH - - - HGNC - 4799 - - - OMIM - 601609 - - - Reactome - Q16836 - - - SwissProt - Q16836 - - - - - 4q25 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 70592 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70592 - Transient predisposition to invasive pyogenic bacterial infection - - Disease - - - Disorder - - - - 31301515[PMID] - - MYD88 innate immune signal transduction adaptor - MYD88 - - TLR adaptor MYD88 - - - gene with protein product - - - - ClinVar - MYD88 - - - Ensembl - ENSG00000172936 - - - Genatlas - MYD88 - - - HGNC - 7562 - - - OMIM - 602170 - - - Reactome - Q99836 - - - SwissProt - Q99836 - - - - - 3p22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - interleukin 1 receptor associated kinase 4 - IRAK4 - - NY-REN-64 - - - gene with protein product - - - - ClinVar - IRAK4 - - - Ensembl - ENSG00000198001 - - - Genatlas - IRAK4 - - - HGNC - 17967 - - - IUPHAR - 2045 - - - OMIM - 606883 - - - Reactome - Q9NWZ3 - - - SwissProt - Q9NWZ3 - - - - - 12q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 70595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70595 - Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome - - Disease - - - Disorder - - - - 12565911[PMID]_16919951[PMID] - - DNA polymerase gamma, catalytic subunit - POLG - - POLG1 - POLGA - - - gene with protein product - - - - Ensembl - ENSG00000140521 - - - Genatlas - POLG - - - HGNC - 9179 - - - OMIM - 174763 - - - SwissProt - P54098 - - - Reactome - P54098 - - - ClinVar - POLG - - - - - 15q26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15668446[PMID] - - twinkle mtDNA helicase - TWNK - - FLJ21832 - PEO - PEO1 - T7 helicase-related protein with intramitochondrial nucleoid localization - TWINKLE - TWINL - - - gene with protein product - - - - Ensembl - ENSG00000107815 - - - Genatlas - C10orf2 - - - HGNC - 1160 - - - OMIM - 606075 - - - Reactome - Q96RR1 - - - SwissProt - Q96RR1 - - - ClinVar - C10orf2 - - - - - 10q24.31 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 70594 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70594 - Dopa-responsive dystonia due to sepiapterin reductase deficiency - - Disease - - - Disorder - - - - - - sepiapterin reductase - SPR - - Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming) - short chain dehydrogenase/reductase family 38C, member 1 - SDR38C1 - - - gene with protein product - - - - Genatlas - SPR - - - HGNC - 11257 - - - OMIM - 182125 - - - Reactome - P35270 - - - SwissProt - P35270 - - - Ensembl - ENSG00000116096 - - - IUPHAR - 3020 - - - ClinVar - SPR - - - - - 2p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 70573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70573 - Small cell lung cancer - - Disease - - - Disorder - - - - 26168399[PMID] - - RB transcriptional corepressor 1 - RB1 - - PPP1R130 - RB - prepro-retinoblastoma-associated protein - protein phosphatase 1, regulatory subunit 130 - - - gene with protein product - - - - ClinVar - RB1 - - - SwissProt - P06400 - - - Ensembl - ENSG00000139687 - - - Genatlas - RB1 - - - HGNC - 9884 - - - OMIM - 614041 - - - Reactome - P06400 - - - - - 13q14.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 26168399[PMID] - - tumor protein p53 - TP53 - - LFS1 - Li-Fraumeni syndrome - P53 - p53 - - - gene with protein product - - - - Ensembl - ENSG00000141510 - - - Genatlas - TP53 - - - HGNC - 11998 - - - OMIM - 191170 - - - Reactome - P04637 - - - SwissProt - P04637 - - - ClinVar - TP53 - - - - - 17p13.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 26168399[PMID] - - tumor protein p73 - TP73 - - P73 - - - gene with protein product - - - - OMIM - 601990 - - - SwissProt - O15350 - - - ClinVar - TP73 - - - Ensembl - ENSG00000078900 - - - Genatlas - TP73 - - - HGNC - 12003 - - - Reactome - O15350 - - - - - 1p36.32 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 70472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70472 - Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type - - Disease - - - Disorder - - - - 12529507[PMID] - - leucine rich pentatricopeptide repeat containing - LRPPRC - - GP130 - LRP130 - - - gene with protein product - - - - ClinVar - LRPPRC - - - Ensembl - ENSG00000138095 - - - Genatlas - LRPPRC - - - HGNC - 15714 - - - OMIM - 607544 - - - Reactome - P42704 - - - SwissProt - P42704 - - - - - 2p21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 70567 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70567 - Cholangiocarcinoma - - Disease - - - Disorder - - - - 32576609[PMID] - - BRCA1 DNA repair associated - BRCA1 - - BRCA1/BRCA2-containing complex, subunit 1 - BRCC1 - FANCS - Fanconi anemia, complementation group S - PPP1R53 - RNF53 - protein phosphatase 1, regulatory subunit 53 - - - gene with protein product - - - - Ensembl - ENSG00000012048 - - - Genatlas - BRCA1 - - - HGNC - 1100 - - - OMIM - 113705 - - - Reactome - P38398 - - - SwissProt - P38398 - - - ClinVar - BRCA1 - - - - - 17q21.31 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 32576609[PMID] - - BRCA2 DNA repair associated - BRCA2 - - BRCA1/BRCA2-containing complex, subunit 2 - BRCC2 - FAD - FAD1 - XRCC11 - - - gene with protein product - - - - SwissProt - P51587 - - - Ensembl - ENSG00000139618 - - - Genatlas - BRCA2 - - - HGNC - 1101 - - - OMIM - 600185 - - - Reactome - P51587 - - - ClinVar - BRCA2 - - - - - 13q13.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 21253578[PMID] - - ROS proto-oncogene 1, receptor tyrosine kinase - ROS1 - - MCF3 - ROS - c-ros-1 - - - gene with protein product - - - - HGNC - 10261 - - - OMIM - 165020 - - - IUPHAR - 1840 - - - SwissProt - P08922 - - - Ensembl - ENSG00000047936 - - - - - 6q22.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 24503127[PMID] - - protein tyrosine phosphatase non-receptor type 3 - PTPN3 - - PTPH1 - - - gene with protein product - - - - Reactome - P26045 - - - SwissProt - P26045 - - - Ensembl - ENSG00000070159 - - - Genatlas - PTPN3 - - - HGNC - 9655 - - - OMIM - 176877 - - - ClinVar - PTPN3 - - - - - 9q31.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 69735 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69735 - Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome - - Disease - - - Disorder - - - - 24697860[PMID] - - SRY-box transcription factor 18 - SOX18 - - - - gene with protein product - - - - ClinVar - SOX18 - - - OMIM - 601618 - - - SwissProt - P35713 - - - Ensembl - ENSG00000203883 - - - Genatlas - SOX18 - - - HGNC - 11194 - - - - - 20q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 69737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69737 - Bosley-Salih-Alorainy syndrome - - Malformation syndrome - - - Disorder - - - - 17875913[PMID] - - homeobox A1 - HOXA1 - - - - gene with protein product - - - - ClinVar - HOXA1 - - - Ensembl - ENSG00000105991 - - - Genatlas - HOXA1 - - - HGNC - 5099 - - - OMIM - 142955 - - - Reactome - P49639 - - - SwissProt - P49639 - - - - - 7p15.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 69739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69739 - Athabaskan brainstem dysgenesis syndrome - - Disease - - - Disorder - - - - 18412118[PMID] - - homeobox A1 - HOXA1 - - - - gene with protein product - - - - ClinVar - HOXA1 - - - Ensembl - ENSG00000105991 - - - Genatlas - HOXA1 - - - HGNC - 5099 - - - OMIM - 142955 - - - Reactome - P49639 - - - SwissProt - P49639 - - - - - 7p15.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 69663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69663 - Low phospholipid-associated cholelithiasis - - Disease - - - Disorder - - - - 17562004[PMID] - - ATP binding cassette subfamily B member 4 - ABCB4 - - GBD1 - MDR2 - PFIC-3 - - - gene with protein product - - - - Ensembl - ENSG00000005471 - - - Genatlas - ABCB4 - - - HGNC - 45 - - - OMIM - 171060 - - - IUPHAR - 771 - - - ClinVar - ABCB4 - - - Reactome - P21439 - - - SwissProt - P21439 - - - - - 7q21.12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 69665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69665 - Intrahepatic cholestasis of pregnancy - - Disease - - - Disorder - - - - 23142591[PMID] - - nuclear receptor subfamily 1 group H member 4 - NR1H4 - - FXR - HRR-1 - HRR1 - RIP14 - farnesoid X receptor - bile acid receptor - - - gene with protein product - - - - Genatlas - NR1H4 - - - HGNC - 7967 - - - IUPHAR - 603 - - - OMIM - 603826 - - - Reactome - Q96RI1 - - - SwissProt - Q96RI1 - - - Ensembl - ENSG00000012504 - - - ClinVar - NR1H4 - - - - - 12q23.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 23022423[PMID] - - ATP binding cassette subfamily B member 11 - ABCB11 - - ABC member 16, MDR/TAP subfamily - ABC16 - PFIC-2 - PGY4 - SPGP - - - gene with protein product - - - - IUPHAR - 778 - - - Ensembl - ENSG00000073734 - - - Genatlas - ABCB11 - - - HGNC - 42 - - - OMIM - 603201 - - - Reactome - O95342 - - - SwissProt - O95342 - - - ClinVar - ABCB11 - - - - - 2q31.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23022423[PMID] - - ATP binding cassette subfamily B member 4 - ABCB4 - - GBD1 - MDR2 - PFIC-3 - - - gene with protein product - - - - Ensembl - ENSG00000005471 - - - Genatlas - ABCB4 - - - HGNC - 45 - - - OMIM - 171060 - - - IUPHAR - 771 - - - ClinVar - ABCB4 - - - Reactome - P21439 - - - SwissProt - P21439 - - - - - 7q21.12 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 15888793[PMID] - - ATPase phospholipid transporting 8B1 - ATP8B1 - - ATPIC - PFIC - - - gene with protein product - - - - IUPHAR - 856 - - - Ensembl - ENSG00000081923 - - - Genatlas - ATP8B1 - - - HGNC - 3706 - - - OMIM - 602397 - - - Reactome - O43520 - - - SwissProt - O43520 - - - ClinVar - ATP8B1 - - - - - 18q21.31 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 69723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69723 - Tyrosinemia type 3 - - Disease - - - Disorder - - - - 10942115[PMID] - - 4-hydroxyphenylpyruvate dioxygenase - HPD - - 4-HPPD - 4HPPD - GLOD3 - glyoxalase domain containing 3 - HPPD - - - gene with protein product - - - - Reactome - P32754 - - - SwissProt - P32754 - - - ClinVar - HPD - - - Ensembl - ENSG00000158104 - - - Genatlas - HPD - - - HGNC - 5147 - - - IUPHAR - 2621 - - - OMIM - 609695 - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 69126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69126 - PAPA syndrome - - Disease - - - Disorder - - - - - - proline-serine-threonine phosphatase interacting protein 1 - PSTPIP1 - - PEST phosphatase-interacting protein 1 - PSTPIP - CD2 antigen-binding protein 1 - CD2 cytoplasmic tail-binding protein - CD2BP1 - CD2BP1L - CD2BP1S - H-PIP - PAPAS - - - gene with protein product - - - - ClinVar - PSTPIP1 - - - Ensembl - ENSG00000140368 - - - Genatlas - PSTPIP1 - - - HGNC - 9580 - - - OMIM - 606347 - - - Reactome - O43586 - - - SwissProt - O43586 - - - - - 15q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 69087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69087 - Naegeli-Franceschetti-Jadassohn syndrome - - Disease - - - Disorder - - - - - - keratin 14 - KRT14 - - epidermolysis bullosa simplex, Dowling-Meara, Koebner - - - gene with protein product - - - - ClinVar - KRT14 - - - Genatlas - KRT14 - - - HGNC - 6416 - - - OMIM - 148066 - - - Reactome - P02533 - - - SwissProt - P02533 - - - Ensembl - ENSG00000186847 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 69088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69088 - Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome - - Disease - - - Disorder - - - - - - inhibitor of nuclear factor kappa B kinase regulatory subunit gamma - IKBKG - - FIP-3 - FIP3 - Fip3p - IKK-gamma - NEMO - ZC2HC9 - IkB kinase-associated protein 1 - IkB kinase subunit gamma - NF-kappa-B essential modulator - IKKG - IKKAP1 - I-kappa-B kinase subunit gamma - 14.7K (adenovirus E3 protein) interacting protein 3 - - - gene with protein product - - - - ClinVar - IKBKG - - - Ensembl - ENSG00000269335 - - - Genatlas - IKBKG - - - HGNC - 5961 - - - OMIM - 300248 - - - Reactome - Q9Y6K9 - - - SwissProt - Q9Y6K9 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 69085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69085 - Limb-mammary syndrome - - Malformation syndrome - - - Disorder - - - - 11462173[PMID] - - tumor protein p63 - TP63 - - NBP - OFC8 - SHFM4 - p51 - p53CP - p63 - p73H - p73L - p40 - EEC3 - KET - - - gene with protein product - - - - Ensembl - ENSG00000073282 - - - Genatlas - TP63 - - - HGNC - 15979 - - - OMIM - 603273 - - - Reactome - Q9H3D4 - - - SwissProt - Q9H3D4 - - - ClinVar - TP63 - - - - - 3q28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 69084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69084 - Pure hair and nail ectodermal dysplasia - - Malformation syndrome - - - Disorder - - - - 16525032[PMID] - - keratin 85 - KRT85 - - Hb-5 - hard keratin type II - - - gene with protein product - - - - ClinVar - KRT85 - - - Ensembl - ENSG00000135443 - - - Genatlas - KRT85 - - - HGNC - 6462 - - - OMIM - 602767 - - - SwissProt - P78386 - - - Reactome - P78386 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24714551[PMID] - - keratin 74 - KRT74 - - K6IRS4 - KRT5C - KRT6IRS4 - - - gene with protein product - - - - Ensembl - ENSG00000170484 - - - Genatlas - KRT74 - - - HGNC - 28929 - - - OMIM - 608248 - - - SwissProt - Q7RTS7 - - - ClinVar - KRT74 - - - Reactome - Q7RTS7 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23063621[PMID] - - homeobox C13 - HOXC13 - - - - gene with protein product - - - - Ensembl - ENSG00000123364 - - - Genatlas - HOXC13 - - - ClinVar - HOXC13 - - - HGNC - 5125 - - - OMIM - 142976 - - - SwissProt - P31276 - - - Reactome - P31276 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 69076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69076 - Familial renal glucosuria - - Disease - - - Disorder - - - - 14614622[PMID]_21165652[PMID]_24255686[PMID] - - solute carrier family 5 member 2 - SLC5A2 - - - - gene with protein product - - - - Ensembl - ENSG00000140675 - - - Genatlas - SLC5A2 - - - HGNC - 11037 - - - IUPHAR - 916 - - - OMIM - 182381 - - - Reactome - P31639 - - - SwissProt - P31639 - - - ClinVar - SLC5A2 - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 69063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69063 - Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization - - Disease - - - Disorder - - - - 15464186[PMID] - - membrane metalloendopeptidase - MME - - CALLA - CD10 - enkephalinase - NEP - neprilysin - neutral endopeptidase - - - gene with protein product - - - - HGNC - 7154 - - - OMIM - 120520 - - - Genatlas - MME - - - SwissProt - P08473 - - - Reactome - P08473 - - - Ensembl - ENSG00000196549 - - - IUPHAR - 1611 - - - ClinVar - MME - - - - - 3q25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 67046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67046 - 3-methylglutaconic aciduria type 1 - - Disease - - - Disorder - - - - 12434311[PMID]_12655555[PMID] - - AU RNA binding methylglutaconyl-CoA hydratase - AUH - - - - gene with protein product - - - - ClinVar - AUH - - - Ensembl - ENSG00000148090 - - - Genatlas - AUH - - - HGNC - 890 - - - OMIM - 600529 - - - Reactome - Q13825 - - - SwissProt - Q13825 - - - - - 9q22.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 67047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67047 - 3-methylglutaconic aciduria type 3 - - Disease - - - Disorder - - - - 27485409[PMID] - - mitochondrial contact site and cristae organizing system subunit 13 - MICOS13 - - MIC13 - QIL1 - P117 - MIC12 - - - gene with protein product - - - - OMIM - 616658 - - - SwissProt - Q5XKP0 - - - Ensembl - ENSG00000174917 - - - Reactome - Q5XKP0 - - - HGNC - 33702 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301646[PMID] - - outer mitochondrial membrane lipid metabolism regulator OPA3 - OPA3 - - FLJ22187 - MGA3 - 3-methylglutaconic aciduria type III - - - gene with protein product - - - - Ensembl - ENSG00000125741 - - - Genatlas - OPA3 - - - HGNC - 8142 - - - OMIM - 606580 - - - SwissProt - Q9H6K4 - - - ClinVar - OPA3 - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 67044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67044 - Thrombocytopenia with congenital dyserythropoietic anemia - - Disease - - - Disorder - - - - - - GATA binding protein 1 - GATA1 - - ERYF1 - GATA-1 - NF-E1 - NFE1 - nuclear factor, erythroid 1 - - - gene with protein product - - - - ClinVar - GATA1 - - - Ensembl - ENSG00000102145 - - - Genatlas - GATA1 - - - HGNC - 4170 - - - OMIM - 305371 - - - Reactome - P15976 - - - SwissProt - P15976 - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 67045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67045 - X-linked intellectual disability with isolated growth hormone deficiency - - Clinical subtype - - - Subtype of disorder - - - - 12428212[PMID]_22139958[PMID] - - SRY-box transcription factor 3 - SOX3 - - - - gene with protein product - - - - ClinVar - SOX3 - - - Ensembl - ENSG00000134595 - - - Genatlas - SOX3 - - - HGNC - 11199 - - - OMIM - 313430 - - - Reactome - P41225 - - - SwissProt - P41225 - - - - - Xq27.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 67042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67042 - Late-onset retinal degeneration - - Disease - - - Disorder - - - - 12944416[PMID] - - C1q and TNF related 5 - C1QTNF5 - - CTRP5 - DKFZp586B0621 - LORD - myonectin - complement-c1q tumor necrosis factor-related protein 5 - - - gene with protein product - - - - Ensembl - ENSG00000223953 - - - Genatlas - C1QTNF5 - - - HGNC - 14344 - - - OMIM - 608752 - - - SwissProt - Q9BXJ0 - - - ClinVar - C1QTNF5 - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 67041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041 - Hyaluronidase deficiency - - Disease - - - Disorder - - - - 10339581[PMID] - - hyaluronidase 1 - HYAL1 - - FUS2 - HYAL-1 - LUCA1 - NAT6 - - - gene with protein product - - - - ClinVar - HYAL1 - - - HGNC - 5320 - - - OMIM - 607071 - - - Reactome - Q12794 - - - SwissProt - Q12794 - - - Ensembl - ENSG00000114378 - - - Genatlas - HYAL1 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 67038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67038 - B-cell chronic lymphocytic leukemia - - Disease - - - Disorder - - - - 12493261[PMID] - - purinergic receptor P2X 7 - P2RX7 - - MGC20089 - P2X7 - - - gene with protein product - - - - OMIM - 602566 - - - Genatlas - P2RX7 - - - SwissProt - Q99572 - - - Reactome - Q99572 - - - Ensembl - ENSG00000089041 - - - IUPHAR - 484 - - - HGNC - 8537 - - - ClinVar - P2RX7 - - - - - 12q24.31 - 1 - - - - - Biomarker tested in - - - Assessed - - - - 22464020[PMID]_23637131[PMID]_22875913[PMID]_21372840[PMID] - - immunoglobulin heavy variable 3-21 - IGHV3-21 - - - - gene with protein product - - - - HGNC - 5586 - - - Ensembl - ENSG00000211947 - - - Genatlas - IGHV3-21 - - - SwissProt - A0A0B4J1V1 - - - OMIM - - - - ClinVar - IGHV3-21 - - - - - 14q32.33 - 1 - - - - - Biomarker tested in - - - Assessed - - - - 10397742[PMID] - - ATM serine/threonine kinase - ATM - - TEL1 - TEL1, telomere maintenance 1, homolog (S. cerevisiae) - TELO1 - - - gene with protein product - - - - ClinVar - ATM - - - SwissProt - Q13315 - - - Ensembl - ENSG00000149311 - - - Genatlas - ATM - - - HGNC - 795 - - - IUPHAR - 1934 - - - OMIM - 607585 - - - Reactome - Q13315 - - - - - 11q22.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - cyclin D1 - CCND1 - - B-cell CLL/lymphoma 1 - G1/S-specific cyclin D1 - U21B31 - parathyroid adenomatosis 1 - - - gene with protein product - - - - Ensembl - ENSG00000110092 - - - Genatlas - CCND1 - - - HGNC - 1582 - - - OMIM - 168461 - - - Reactome - P24385 - - - SwissProt - P24385 - - - ClinVar - CCND1 - - - - - 11q13.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 21435757[PMID]_17920683[PMID]_16737921[PMID]_16938579[PMID]_21205967[PMID] - - tumor protein p53 - TP53 - - LFS1 - Li-Fraumeni syndrome - P53 - p53 - - - gene with protein product - - - - Ensembl - ENSG00000141510 - - - Genatlas - TP53 - - - HGNC - 11998 - - - OMIM - 191170 - - - Reactome - P04637 - - - SwissProt - P04637 - - - ClinVar - TP53 - - - - - 17p13.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 15843669[PMID] - - ARF like GTPase 11 - ARL11 - - ARLTS1 - FLJ33930 - ADP-ribosylation factor-like tumor suppressor gene 1 - - - gene with protein product - - - - ClinVar - ARL11 - - - Ensembl - ENSG00000152213 - - - Genatlas - ARL11 - - - HGNC - 24046 - - - OMIM - 609351 - - - SwissProt - Q969Q4 - - - - - 13q14.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - immunoglobulin heavy constant gamma 1 (G1m marker) - IGHG1 - - - - gene with protein product - - - - ClinVar - IGHG1 - - - Ensembl - ENSG00000211896 - - - Genatlas - IGHG1 - - - HGNC - 5525 - - - OMIM - 147100 - - - Reactome - P01857 - - - SwissProt - P01857 - - - - - 14q32.33 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 23502782[PMID] - - protection of telomeres 1 - POT1 - - DKFZp586D211 - hPot1 - - - gene with protein product - - - - Ensembl - ENSG00000128513 - - - Genatlas - POT1 - - - HGNC - 17284 - - - OMIM - 606478 - - - Reactome - Q9NUX5 - - - SwissProt - Q9NUX5 - - - ClinVar - POT1 - - - - - 7q31.33 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Not yet assessed - - - - 26466571[PMID]_26675346[PMID] - - ribosomal protein S15 - RPS15 - - 40S ribosomal protein S15 - MGC111130 - RIG - S15 - homolog of rat insulinoma - insulinoma protein - uS19 - - - gene with protein product - - - - Ensembl - ENSG00000115268 - - - Genatlas - RPS15 - - - HGNC - 10388 - - - OMIM - 180535 - - - Reactome - P62841 - - - SwissProt - P62841 - - - ClinVar - RPS15 - - - - - 19p13.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 26466571[PMID] - - IKAROS family zinc finger 3 - IKZF3 - - Aiolos - - - gene with protein product - - - - Ensembl - ENSG00000161405 - - - Genatlas - IKZF3 - - - HGNC - 13178 - - - OMIM - 606221 - - - SwissProt - Q9UKT9 - - - Reactome - Q9UKT9 - - - ClinVar - IKZF3 - - - - - 17q12-q21.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 67036 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67036 - Autosomal dominant optic atrophy and cataract - - Disease - - - Disorder - - - - 15342707[PMID] - - outer mitochondrial membrane lipid metabolism regulator OPA3 - OPA3 - - FLJ22187 - MGA3 - 3-methylglutaconic aciduria type III - - - gene with protein product - - - - Ensembl - ENSG00000125741 - - - Genatlas - OPA3 - - - HGNC - 8142 - - - OMIM - 606580 - - - SwissProt - Q9H6K4 - - - ClinVar - OPA3 - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 66637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66637 - Diaphanospondylodysostosis - - Malformation syndrome - - - Disorder - - - - 20869035[PMID]_21990102[PMID] - - BMP binding endothelial regulator - BMPER - - CRIM3 - Cv2 - crossveinless-2 - - - gene with protein product - - - - Ensembl - ENSG00000164619 - - - Genatlas - BMPER - - - HGNC - 24154 - - - OMIM - 608699 - - - SwissProt - Q8N8U9 - - - ClinVar - BMPER - - - - - 7p14.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 66634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66634 - Dilated cardiomyopathy with ataxia - - Disease - - - Disorder - - - - 16055927[PMID] - - DnaJ heat shock protein family (Hsp40) member C19 - DNAJC19 - - mitochondrial import inner membrane translocase subunit TIM14 - Pam18 - TIMM14 - Tim14 - - - gene with protein product - - - - ClinVar - DNAJC19 - - - Ensembl - ENSG00000205981 - - - Genatlas - DNAJC19 - - - HGNC - 30528 - - - OMIM - 608977 - - - Reactome - Q96DA6 - - - SwissProt - Q96DA6 - - - - - 3q26.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 66631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66631 - CEDNIK syndrome - - Disease - - - Disorder - - - - 15968592[PMID]_21073448[PMID] - - synaptosome associated protein 29 - SNAP29 - - CEDNIK - SNAP-29 - cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome - soluble 29 kDa NSF attachment protein - - - gene with protein product - - - - Reactome - O95721 - - - ClinVar - SNAP29 - - - Ensembl - ENSG00000099940 - - - Genatlas - SNAP29 - - - HGNC - 11133 - - - OMIM - 604202 - - - SwissProt - O95721 - - - - - 22q11.21 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 66629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629 - Goldberg-Shprintzen megacolon syndrome - - Malformation syndrome - - - Disorder - - - - 15883926[PMID]_23427148[PMID] - - kinesin family binding protein - KIFBP - - DKFZP586B0923 - KBP - TTC20 - kinesin binding protein - - - gene with protein product - - - - Ensembl - ENSG00000198954 - - - HGNC - 23419 - - - OMIM - 609367 - - - Genatlas - KIF1BP - - - ClinVar - KIF1BP - - - SwissProt - Q96EK5 - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 66628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66628 - Obesity due to congenital leptin deficiency - - Etiological subtype - - - Subtype of disorder - - - - 26567097[PMID] - - leptin - LEP - - - - gene with protein product - - - - ClinVar - LEP - - - Ensembl - ENSG00000174697 - - - Genatlas - LEP - - - HGNC - 6553 - - - OMIM - 164160 - - - Reactome - P41159 - - - SwissProt - P41159 - - - - - 7q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 65282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65282 - Carvajal syndrome - - Disease - - - Disorder - - - - 11063735[PMID] - - desmoplakin - DSP - - DPI - DPII - KPPS2 - PPKS2 - - - gene with protein product - - - - ClinVar - DSP - - - Ensembl - ENSG00000096696 - - - Genatlas - DSP - - - HGNC - 3052 - - - OMIM - 125647 - - - Reactome - P15924 - - - SwissProt - P15924 - - - - - 6p24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 65285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65285 - Lhermitte-Duclos disease - - Clinical subtype - - - Subtype of disorder - - - - 14566704[PMID] - - phosphatase and tensin homolog - PTEN - - MMAC1 - PTEN1 - TEP1 - mutated in multiple advanced cancers 1 - Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN - - - gene with protein product - - - - IUPHAR - 2497 - - - ClinVar - PTEN - - - HGNC - 9588 - - - OMIM - 601728 - - - Reactome - P60484 - - - SwissProt - P60484 - - - Ensembl - ENSG00000171862 - - - Genatlas - PTEN - - - - - 10q23.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 65284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65284 - Biotin-thiamine-responsive basal ganglia disease - - Disease - - - Disorder - - - - 24260777[PMID] - - solute carrier family 19 member 3 - SLC19A3 - - THTR2 - thiamine transporter 2 - hTHTR2 - thTr-2 - - - gene with protein product - - - - SwissProt - Q9BZV2 - - - Ensembl - ENSG00000135917 - - - Genatlas - SLC19A3 - - - HGNC - 16266 - - - OMIM - 606152 - - - Reactome - Q9BZV2 - - - ClinVar - SLC19A3 - - - IUPHAR - 1016 - - - - - 2q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 65287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65287 - Beta-ureidopropionase deficiency - - Disease - - - Disorder - - - - 15385443[PMID] - - beta-ureidopropionase 1 - UPB1 - - BUP1 - - - gene with protein product - - - - ClinVar - UPB1 - - - Ensembl - ENSG00000100024 - - - Genatlas - UPB1 - - - HGNC - 16297 - - - OMIM - 606673 - - - Reactome - Q9UBR1 - - - SwissProt - Q9UBR1 - - - - - 22q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 65288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65288 - Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome - - Malformation syndrome - - - Disorder - - - - 15543146[PMID]_20301317[PMID] - - pancreas associated transcription factor 1a - PTF1A - - p48 - PTF1-p48 - bHLHa29 - - - gene with protein product - - - - ClinVar - PTF1A - - - Ensembl - ENSG00000168267 - - - Genatlas - PTF1A - - - HGNC - 23734 - - - OMIM - 607194 - - - Reactome - Q7RTS3 - - - SwissProt - Q7RTS3 - - - - - 10p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 65684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65684 - Monomelic amyotrophy - - Disease - - - Disorder - - - - 22264561[PMID] - - ciliogenesis and planar polarity effector complex subunit 1 - CPLANE1 - - Heart Under Glass - FLJ13231 - Hug - JBTS17 - - - gene with protein product - - - - Ensembl - ENSG00000197603 - - - Genatlas - C5orf42 - - - HGNC - 25801 - - - OMIM - 614571 - - - SwissProt - Q9H799 - - - ClinVar - C5orf42 - - - - - 5p13.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22264561[PMID] - - centrosomal protein 126 - CEP126 - - - - gene with protein product - - - - Reactome - Q9P2H0 - - - ClinVar - KIAA1377 - - - SwissProt - Q9P2H0 - - - Ensembl - ENSG00000110318 - - - Genatlas - KIAA1377 - - - HGNC - 29264 - - - OMIM - 614634 - - - - - 11q22.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 65748 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65748 - Multiple self-healing squamous epithelioma - - Disease - - - Disorder - - - - 21358634[PMID] - - transforming growth factor beta receptor 1 - TGFBR1 - - ALK5 - TBRI - TBR-i - ACVRLK4 - ALK-5 - activin A receptor type II-like kinase, 53kDa - - - gene with protein product - - - - ClinVar - TGFBR1 - - - Ensembl - ENSG00000106799 - - - Genatlas - TGFBR1 - - - HGNC - 11772 - - - IUPHAR - 1788 - - - OMIM - 190181 - - - Reactome - P36897 - - - SwissProt - P36897 - - - - - 9q22.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 65743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65743 - Autosomal dominant multiple pterygium syndrome - - Malformation syndrome - - - Disorder - - - - 25957469[PMID] - - myosin heavy chain 3 - MYH3 - - HEMHC - MYHC-EMB - MYHSE1 - SMHCE - muscle embryonic myosin heavy chain 3 - myosin, skeletal, heavy chain, embryonic 1 - - - gene with protein product - - - - ClinVar - MYH3 - - - Ensembl - ENSG00000109063 - - - Genatlas - MYH3 - - - HGNC - 7573 - - - OMIM - 160720 - - - Reactome - P11055 - - - SwissProt - P11055 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 65759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65759 - Carpenter syndrome - - Malformation syndrome - - - Disorder - - - - 23063620[PMID] - - multiple EGF like domains 8 - MEGF8 - - FLJ22365 - HBV pre s2 binding protein 1 - SBP1 - - - gene with protein product - - - - Ensembl - ENSG00000105429 - - - Genatlas - MEGF8 - - - HGNC - 3233 - - - OMIM - 604267 - - - SwissProt - Q7Z7M0 - - - ClinVar - MEGF8 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17503333[PMID]_21412941[PMID] - - RAB23, member RAS oncogene family - RAB23 - - - - gene with protein product - - - - Reactome - Q9ULC3 - - - Ensembl - ENSG00000112210 - - - Genatlas - RAB23 - - - HGNC - 14263 - - - OMIM - 606144 - - - SwissProt - Q9ULC3 - - - ClinVar - RAB23 - - - - - 6p12.1-p11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 64748 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64748 - Dejerine-Sottas syndrome - - Disease - - - Disorder - - - - 18698610[PMID]_12090401[PMID] - - peripheral myelin protein 22 - PMP22 - - GAS3 - HNPP - Sp110 - HMSNIA - - - gene with protein product - - - - Reactome - Q01453 - - - ClinVar - PMP22 - - - Ensembl - ENSG00000109099 - - - Genatlas - PMP22 - - - HGNC - 9118 - - - OMIM - 601097 - - - SwissProt - Q01453 - - - - - 17p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11133365[PMID] - - periaxin - PRX - - KIAA1620 - - - gene with protein product - - - - ClinVar - PRX - - - Ensembl - ENSG00000105227 - - - Genatlas - PRX - - - HGNC - 13797 - - - OMIM - 605725 - - - SwissProt - Q9BXM0 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 11523566[PMID] - - early growth response 2 - EGR2 - - Krox-20 homolog, Drosophila - - - gene with protein product - - - - ClinVar - EGR2 - - - Ensembl - ENSG00000122877 - - - Genatlas - EGR2 - - - HGNC - 3239 - - - OMIM - 129010 - - - Reactome - P11161 - - - SwissProt - P11161 - - - - - 10q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 8816708[PMID]_12242557[PMID] - - myelin protein zero - MPZ - - CMT2I - CMT2J - HMSNIB - P0 - - - gene with protein product - - - - ClinVar - MPZ - - - Ensembl - ENSG00000158887 - - - Genatlas - MPZ - - - HGNC - 7225 - - - OMIM - 159440 - - - SwissProt - P25189 - - - - - 1q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 64751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64751 - Hereditary motor and sensory neuropathy type 5 - - Disease - - - Disorder - - - - - - mitofusin 2 - MFN2 - - CMT2A2 - CPRP1 - KIAA0214 - MARF - - - gene with protein product - - - - Ensembl - ENSG00000116688 - - - Genatlas - MFN2 - - - HGNC - 16877 - - - OMIM - 608507 - - - Reactome - O95140 - - - SwissProt - O95140 - - - IUPHAR - 3131 - - - ClinVar - MFN2 - - - - - 1p36.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 562509 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562509 - Heme oxygenase-1 deficiency - - Disease - - - Disorder - - - - 31216709[PMID] - - heme oxygenase 1 - HMOX1 - - HO-1 - bK286B10 - - - gene with protein product - - - - Genatlas - HMOX1 - - - HGNC - 5013 - - - Reactome - P09601 - - - IUPHAR - 1441 - - - OMIM - 141250 - - - Ensembl - ENSG00000100292 - - - ClinVar - HMOX1 - - - SwissProt - P09601 - - - - - 22q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 64752 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64752 - Hereditary sensory and autonomic neuropathy type 5 - - Disease - - - Disorder - - - - 11310631[PMID] - - neurotrophic receptor tyrosine kinase 1 - NTRK1 - - MTC - TRK - TRKA - high affinity nerve growth factor receptor - tropomyosin receptor kinase A - - - gene with protein product - - - - ClinVar - NTRK1 - - - Ensembl - ENSG00000198400 - - - Genatlas - NTRK1 - - - HGNC - 8031 - - - IUPHAR - 1817 - - - OMIM - 191315 - - - Reactome - P04629 - - - SwissProt - P04629 - - - - - 1q23.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 14976160[PMID] - - nerve growth factor - NGF - - - - gene with protein product - - - - Ensembl - ENSG00000134259 - - - Genatlas - NGF - - - HGNC - 7808 - - - OMIM - 162030 - - - Reactome - P01138 - - - ClinVar - NGF - - - SwissProt - P01138 - - - - - 1p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 64753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64753 - Spinocerebellar ataxia with axonal neuropathy type 2 - - Disease - - - Disorder - - - - 20301333[PMID]_14770181[PMID] - - senataxin - SETX - - Sen1 - AOA2 - KIAA0625 - STEX - - - gene with protein product - - - - ClinVar - SETX - - - OMIM - 608465 - - - SwissProt - Q7Z333 - - - Ensembl - ENSG00000107290 - - - Genatlas - SETX - - - HGNC - 445 - - - Reactome - Q7Z333 - - - - - 9q34.13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22065524[PMID] - - phosphoinositide-3-kinase regulatory subunit 5 - PIK3R5 - - P101-PI3K - p101 - - - gene with protein product - - - - ClinVar - PIK3R5 - - - Ensembl - ENSG00000141506 - - - Genatlas - PIK3R5 - - - HGNC - 30035 - - - OMIM - 611317 - - - Reactome - Q8WYR1 - - - SwissProt - Q8WYR1 - - - IUPHAR - 2506 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 64754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64754 - Nevus comedonicus syndrome - - Disease - - - Disorder - - - - 27153399[PMID] - - NIMA related kinase 9 - NEK9 - - DKFZp434D0935 - MGC16714 - Nek8 - NERCC - NERCC1 - - - gene with protein product - - - - HGNC - 18591 - - - OMIM - 609798 - - - Genatlas - NEK9 - - - SwissProt - Q8TD19 - - - Reactome - Q8TD19 - - - Ensembl - ENSG00000119638 - - - IUPHAR - 2124 - - - ClinVar - NEK9 - - - - - 14q24.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 562528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562528 - Congenital limbs-face contractures-hypotonia-developmental delay syndrome - - Malformation syndrome - - - Disorder - - - - 31410997[PMID] - - sodium leak channel, non-selective - NALCN - - CanIon - bA430M15.1 - - - gene with protein product - - - - ClinVar - NALCN - - - Ensembl - ENSG00000102452 - - - Genatlas - NALCN - - - HGNC - 19082 - - - OMIM - 611549 - - - Reactome - Q8IZF0 - - - SwissProt - Q8IZF0 - - - IUPHAR - 750 - - - - - 13q32.3-q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 64755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64755 - Becker nevus syndrome - - Disease - - - Disorder - - - - 28347698[PMID] - - actin beta - ACTB - - ß-actin - β-actin - - - gene with protein product - - - - ClinVar - ACTB - - - Ensembl - ENSG00000075624 - - - Genatlas - ACTB - - - HGNC - 132 - - - OMIM - 102630 - - - Reactome - P60709 - - - SwissProt - P60709 - - - - - 7p22.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 562559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562559 - Anterior maxillary protrusion-strabismus-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - 17618476[PMID]_21035105[PMID] - - sine oculis binding protein homolog - SOBP - - FLJ10159 - - - gene with protein product - - - - OMIM - 613667 - - - Genatlas - SOBP - - - SwissProt - A7XYQ1 - - - HGNC - 29256 - - - Ensembl - ENSG00000112320 - - - ClinVar - SOBP - - - - - 6q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 562538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562538 - Autosomal recessive extra-oral halitosis - - Disease - - - Disorder - - - - 29255262[PMID] - - selenium binding protein 1 - SELENBP1 - - hSP56 - hSBP - LPSB - methanethiol oxidase - - - gene with protein product - - - - HGNC - 10719 - - - Ensembl - ENSG00000143416 - - - SwissProt - Q13228 - - - Reactome - Q13228 - - - OMIM - 604188 - - - - - 1q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 562569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562569 - TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome - - Malformation syndrome - - - Disorder - - - - 30526828[PMID] - - transmembrane protein 94 - TMEM94 - - ERMA - ER Mg2+ ATPase - - - gene with protein product - - - - HGNC - 28983 - - - Ensembl - ENSG00000177728 - - - SwissProt - Q12767 - - - Reactome - Q12767 - - - OMIM - 618163 - - - - - 17q25.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 64280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64280 - Childhood absence epilepsy - - Disease - - - Disorder - - - - 16718694[PMID] - - gamma-aminobutyric acid type A receptor subunit alpha1 - GABRA1 - - EJM5 - GABA(A) receptor, alpha 1 - - - gene with protein product - - - - ClinVar - GABRA1 - - - OMIM - 137160 - - - Reactome - P14867 - - - SwissProt - P14867 - - - Ensembl - ENSG00000022355 - - - Genatlas - GABRA1 - - - HGNC - 4075 - - - IUPHAR - 404 - - - - - 5q34 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - gamma-aminobutyric acid type A receptor subunit gamma2 - GABRG2 - - GABA(A) receptor, gamma 2 - - - gene with protein product - - - - ClinVar - GABRG2 - - - Ensembl - ENSG00000113327 - - - Genatlas - GABRG2 - - - HGNC - 4087 - - - IUPHAR - 414 - - - OMIM - 137164 - - - Reactome - P18507 - - - SwissProt - P18507 - - - - - 5q34 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 18514161[PMID]_20550555[PMID] - - gamma-aminobutyric acid type A receptor subunit beta3 - GABRB3 - - GABA(A) receptor, beta 3 - - - gene with protein product - - - - ClinVar - GABRB3 - - - Ensembl - ENSG00000166206 - - - Genatlas - GABRB3 - - - HGNC - 4083 - - - IUPHAR - 412 - - - OMIM - 137192 - - - Reactome - P28472 - - - SwissProt - P28472 - - - - - 15q12 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 12891677[PMID] - - calcium voltage-gated channel subunit alpha1 H - CACNA1H - - Cav3.2 - - - gene with protein product - - - - Ensembl - ENSG00000196557 - - - Genatlas - CACNA1H - - - HGNC - 1395 - - - IUPHAR - 536 - - - OMIM - 607904 - - - Reactome - O95180 - - - SwissProt - O95180 - - - ClinVar - CACNA1H - - - - - 16p13.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 11463517[PMID] - - Jrk helix-turn-helix protein - JRK - - JH8 - jerky - - - gene with protein product - - - - ClinVar - JRK - - - Reactome - O75564 - - - HGNC - 6199 - - - OMIM - 603210 - - - SwissProt - O75564 - - - Ensembl - ENSG00000234616 - - - Genatlas - JRK - - - - - 8q24.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 64739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64739 - Ovarian hyperstimulation syndrome - - Disease - - - Disorder - - - - 19573286[PMID]_18248882[PMID] - - follicle stimulating hormone receptor - FSHR - - FSHRO - LGR1 - - - gene with protein product - - - - Ensembl - ENSG00000170820 - - - Genatlas - FSHR - - - HGNC - 3969 - - - IUPHAR - 253 - - - OMIM - 136435 - - - Reactome - P23945 - - - SwissProt - P23945 - - - ClinVar - FSHR - - - - - 2p16.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 63269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269 - Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis - - Clinical subtype - - - Subtype of disorder - - - - 15483095[PMID] - - cytochrome p450 oxidoreductase - POR - - CYPOR - FLJ26468 - NADPH--hemoprotein reductase - - - gene with protein product - - - - Reactome - P16435 - - - ClinVar - POR - - - Ensembl - ENSG00000127948 - - - Genatlas - POR - - - HGNC - 9208 - - - OMIM - 124015 - - - SwissProt - P16435 - - - - - 7q11.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 63260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63260 - Craniorachischisis - - Morphological anomaly - - - Disorder - - - - 22610794[PMID] - - dishevelled binding antagonist of beta catenin 1 - DACT1 - - DAPPER - DAPPER1 - FRODO - HDPR1 - THYEX3 - - - gene with protein product - - - - Ensembl - ENSG00000165617 - - - Genatlas - DACT1 - - - HGNC - 17748 - - - OMIM - 607861 - - - Reactome - Q9NYF0 - - - SwissProt - Q9NYF0 - - - ClinVar - DACT1 - - - - - 14q23.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 63442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63442 - Angel-shaped phalango-epiphyseal dysplasia - - Malformation syndrome - - - Disorder - - - - 15173244[PMID]_22828428[PMID] - - growth differentiation factor 5 - GDF5 - - BMP14 - CDMP1 - cartilage-derived morphogenetic protein-1 - - - gene with protein product - - - - ClinVar - GDF5 - - - OMIM - 601146 - - - Reactome - P43026 - - - SwissProt - P43026 - - - Ensembl - ENSG00000125965 - - - Genatlas - GDF5 - - - HGNC - 4220 - - - - - 20q11.22 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 63273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63273 - Distal myopathy with posterior leg and anterior hand involvement - - Disease - - - Disorder - - - - 21620354[PMID] - - filamin C - FLNC - - ABP-280 - ABPL - actin binding protein 280 - gamma filamin - - - gene with protein product - - - - Ensembl - ENSG00000128591 - - - Genatlas - FLNC - - - HGNC - 3756 - - - OMIM - 102565 - - - Reactome - Q14315 - - - SwissProt - Q14315 - - - ClinVar - FLNC - - - - - 7q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 63446 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63446 - Acrocapitofemoral dysplasia - - Malformation syndrome - - - Disorder - - - - 12632327[PMID] - - Indian hedgehog signaling molecule - IHH - - BDA1 - HHG2 - - - gene with protein product - - - - ClinVar - IHH - - - Reactome - Q14623 - - - SwissProt - Q14623 - - - Ensembl - ENSG00000163501 - - - Genatlas - IHH - - - HGNC - 5956 - - - OMIM - 600726 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 60040 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60040 - Megalencephaly-capillary malformation-polymicrogyria syndrome - - Malformation syndrome - - - Disorder - - - - 22729224[PMID] - - phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha - PIK3CA - - PI3K - - - gene with protein product - - - - Reactome - P42336 - - - SwissProt - P42336 - - - Ensembl - ENSG00000121879 - - - Genatlas - PIK3CA - - - HGNC - 8975 - - - IUPHAR - 2153 - - - OMIM - 171834 - - - ClinVar - PIK3CA - - - - - 3q26.32 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 60033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60033 - Idiopathic bronchiectasis - - Disease - - - Disorder - - - - 23781395[PMID]_25797027[PMID] - - CF transmembrane conductance regulator - CFTR - - MRP7 - TNR-CFTR - dJ760C5.1 - ABC35 - ATP-binding cassette sub-family C, member 7 - CFTR/MRP - - - gene with protein product - - - - Ensembl - ENSG00000001626 - - - Genatlas - CFTR - - - HGNC - 1884 - - - IUPHAR - 707 - - - OMIM - 602421 - - - Reactome - P13569 - - - SwissProt - P13569 - - - ClinVar - CFTR - - - - - 7q31.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 19462466[PMID] - - sodium channel epithelial 1 subunit alpha - SCNN1A - - amiloride-sensitive sodium channel subunit alpha - ENaCalpha - - - gene with protein product - - - - ClinVar - SCNN1A - - - Genatlas - SCNN1A - - - HGNC - 10599 - - - IUPHAR - 738 - - - OMIM - 600228 - - - Reactome - P37088 - - - SwissProt - P37088 - - - Ensembl - ENSG00000111319 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21658649[PMID]_18507830[PMID] - - sodium channel epithelial 1 subunit beta - SCNN1B - - amiloride-sensitive sodium channel subunit beta - ENaCbeta - Liddle syndrome - - - gene with protein product - - - - ClinVar - SCNN1B - - - Ensembl - ENSG00000168447 - - - Genatlas - SCNN1B - - - HGNC - 10600 - - - IUPHAR - 739 - - - OMIM - 600760 - - - Reactome - P51168 - - - SwissProt - P51168 - - - - - 16p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21658649[PMID]_18507830[PMID] - - sodium channel epithelial 1 subunit gamma - SCNN1G - - amiloride-sensitive sodium channel subunit gamma - ENaCgamma - SCNEG - - - gene with protein product - - - - ClinVar - SCNN1G - - - Ensembl - ENSG00000166828 - - - Genatlas - SCNN1G - - - HGNC - 10602 - - - IUPHAR - 741 - - - OMIM - 600761 - - - Reactome - P51170 - - - SwissProt - P51170 - - - - - 16p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 59303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59303 - Neonatal ichthyosis-sclerosing cholangitis syndrome - - Disease - - - Disorder - - - - 15521008[PMID] - - claudin 1 - CLDN1 - - ILVASC - SEMP1 - senescence-associated epithelial membrane protein 1 - - - gene with protein product - - - - Ensembl - ENSG00000163347 - - - Genatlas - CLDN1 - - - HGNC - 2032 - - - OMIM - 603718 - - - Reactome - O95832 - - - SwissProt - O95832 - - - ClinVar - CLDN1 - - - - - 3q28 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 59306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59306 - McLeod neuroacanthocytosis syndrome - - Disease - - - Disorder - - - - - - X-linked Kx blood group antigen, Kell and VPS13A binding protein - XK - - Kx - Kx antigen - McLeod syndrome - X1k - XKR1 - - - gene with protein product - - - - ClinVar - XK - - - Ensembl - ENSG00000047597 - - - Genatlas - XK - - - HGNC - 12811 - - - OMIM - 314850 - - - Reactome - P51811 - - - SwissProt - P51811 - - - - - Xp21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 60015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60015 - Enlarged parietal foramina - - Malformation syndrome - - - Disorder - - - - 16319823[PMID] - - ALX homeobox 4 - ALX4 - - FPP - KIAA1788 - PFM - - - gene with protein product - - - - Ensembl - ENSG00000052850 - - - Genatlas - ALX4 - - - HGNC - 450 - - - OMIM - 605420 - - - SwissProt - Q9H161 - - - ClinVar - ALX4 - - - - - 11p11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 16319823[PMID] - - msh homeobox 2 - MSX2 - - CRS2 - FPP - HOX8 - MSH - PFM - craniosynostosis, type 2 - - - gene with protein product - - - - Reactome - P35548 - - - ClinVar - MSX2 - - - Ensembl - ENSG00000120149 - - - Genatlas - MSX2 - - - HGNC - 7392 - - - OMIM - 123101 - - - SwissProt - P35548 - - - - - 5q35.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 60025 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60025 - Pulmonary alveolar microlithiasis - - Disease - - - Disorder - - - - 20046000[PMID]_23164546[PMID] - - solute carrier family 34 member 2 - SLC34A2 - - NAPI-IIb - NaPi2b - NPTIIb - NaPi-2b - NAPI-3B - Sodium-dependent phosphate transport protein 2B - - - gene with protein product - - - - IUPHAR - 1136 - - - Ensembl - ENSG00000157765 - - - Genatlas - SLC34A2 - - - HGNC - 11020 - - - OMIM - 604217 - - - Reactome - O95436 - - - SwissProt - O95436 - - - ClinVar - SLC34A2 - - - - - 4p15.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 564178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564178 - Primary hypomagnesemia-refractory seizures-intellectual disability syndrome - - Disease - - - Disorder - - - - 30388404[PMID] - - ATPase Na+/K+ transporting subunit alpha 1 - ATP1A1 - - sodium pump subunit alpha-1 - sodium-potassium ATPase catalytic subunit alpha-1 - sodium/potassium-transporting ATPase subunit alpha-1 - - - gene with protein product - - - - IUPHAR - 833 - - - OMIM - 182310 - - - Reactome - P05023 - - - SwissProt - P05023 - - - ClinVar - ATP1A1 - - - Ensembl - ENSG00000163399 - - - Genatlas - ATP1A1 - - - HGNC - 799 - - - - - 1p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 60030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60030 - Loeys-Dietz syndrome - - Malformation syndrome - - - Disorder - - - - 24440784[PMID]_25163805[PMID]_28544325[PMID] - - transforming growth factor beta 2 - TGFB2 - - prepro-transforming growth factor beta-2 - - - gene with protein product - - - - ClinVar - TGFB2 - - - Ensembl - ENSG00000092969 - - - Genatlas - TGFB2 - - - HGNC - 11768 - - - OMIM - 190220 - - - Reactome - P61812 - - - SwissProt - P61812 - - - - - 1q41 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26184463[PMID]_29392890[PMID] - - transforming growth factor beta 3 - TGFB3 - - prepro-transforming growth factor beta-3 - - - gene with protein product - - - - ClinVar - TGFB3 - - - SwissProt - P10600 - - - Ensembl - ENSG00000119699 - - - Genatlas - TGFB3 - - - HGNC - 11769 - - - OMIM - 190230 - - - Reactome - P10600 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29392890[PMID]_31000321[PMID] - - SMAD family member 2 - SMAD2 - - MADR2 - JV18-1 - - - gene with protein product - - - - OMIM - 601366 - - - Ensembl - ENSG00000175387 - - - SwissProt - Q15796 - - - Genatlas - SMAD2 - - - Reactome - Q15796 - - - HGNC - 6768 - - - ClinVar - SMAD2 - - - - - 18q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32935439[PMID]_29392890[PMID]_31000321[PMID] - - SMAD family member 3 - SMAD3 - - HsT17436 - JV15-2 - - - gene with protein product - - - - Ensembl - ENSG00000166949 - - - Genatlas - SMAD3 - - - HGNC - 6769 - - - OMIM - 603109 - - - Reactome - P84022 - - - SwissProt - P84022 - - - ClinVar - SMAD3 - - - - - 15q22.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34010605[PMID] - - importin 8 - IPO8 - - IMP8 - - - gene with protein product - - - - Ensembl - ENSG00000133704 - - - OMIM - 605600 - - - SwissProt - O15397 - - - HGNC - 9853 - - - - - 12p11.21 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 15731757[PMID]_16928994[PMID] - - transforming growth factor beta receptor 1 - TGFBR1 - - ALK5 - TBRI - TBR-i - ACVRLK4 - ALK-5 - activin A receptor type II-like kinase, 53kDa - - - gene with protein product - - - - ClinVar - TGFBR1 - - - Ensembl - ENSG00000106799 - - - Genatlas - TGFBR1 - - - HGNC - 11772 - - - IUPHAR - 1788 - - - OMIM - 190181 - - - Reactome - P36897 - - - SwissProt - P36897 - - - - - 9q22.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15731757[PMID]_16928994[PMID] - - transforming growth factor beta receptor 2 - TGFBR2 - - TBRII - TBR-ii - - - gene with protein product - - - - ClinVar - TGFBR2 - - - Ensembl - ENSG00000163513 - - - Genatlas - TGFBR2 - - - HGNC - 11773 - - - IUPHAR - 1795 - - - OMIM - 190182 - - - Reactome - P37173 - - - SwissProt - P37173 - - - - - 3p24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 563708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563708 - Syndromic congenital sodium diarrhea - - Disease - - - Disorder - - - - 26358773[PMID]_19185281[PMID] - - serine peptidase inhibitor, Kunitz type 2 - SPINT2 - - HAI-2 - Kop - placental bikunin - Kunitz domain containing protein overexpressed in pancreatic cancer - HAI2 - HGF activator inhibitor 2 - hepatocyte growth factor activator inhibitor-2 - - - gene with protein product - - - - Ensembl - ENSG00000167642 - - - Genatlas - SPINT2 - - - HGNC - 11247 - - - OMIM - 605124 - - - SwissProt - O43291 - - - Reactome - O43291 - - - ClinVar - SPINT2 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 59181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59181 - Sorsby pseudoinflammatory fundus dystrophy - - Disease - - - Disorder - - - - 7894485[PMID] - - TIMP metallopeptidase inhibitor 3 - TIMP3 - - - - gene with protein product - - - - Reactome - P35625 - - - ClinVar - TIMP3 - - - Ensembl - ENSG00000100234 - - - Genatlas - TIMP3 - - - HGNC - 11822 - - - OMIM - 188826 - - - SwissProt - P35625 - - - - - 22q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 59135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59135 - Laing distal myopathy - - Disease - - - Disorder - - - - 20301606[PMID] - - myosin heavy chain 7 - MYH7 - - CMD1S - - - gene with protein product - - - - ClinVar - MYH7 - - - OMIM - 160760 - - - Reactome - P12883 - - - SwissProt - P12883 - - - Ensembl - ENSG00000092054 - - - Genatlas - MYH7 - - - HGNC - 7577 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 58017 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58017 - Classic hairy cell leukemia - - Disease - - - Disorder - - - - 21663470[PMID]_24241536[PMID] - - B-Raf proto-oncogene, serine/threonine kinase - BRAF - - BRAF1 - BRAF-1 - - - gene with protein product - - - - Ensembl - ENSG00000157764 - - - Genatlas - BRAF - - - HGNC - 1097 - - - IUPHAR - 1943 - - - OMIM - 164757 - - - Reactome - P15056 - - - SwissProt - P15056 - - - ClinVar - BRAF - - - - - 7q34 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 57782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57782 - Mazabraud syndrome - - Malformation syndrome - - - Disorder - - - - 19287459[PMID]_22609175[PMID] - - GNAS complex locus - GNAS - - G protein subunit alpha S - GNASXL - GPSA - NESP - NESP55 - SCG6 - SgVI - secretogranin VI - - - gene with protein product - - - - ClinVar - GNAS - - - SwissProt - P63092 - - - SwissProt - P84996 - - - SwissProt - Q5JWF2 - - - Ensembl - ENSG00000087460 - - - Genatlas - GNAS - - - HGNC - 4392 - - - OMIM - 139320 - - - Reactome - P63092 - - - SwissProt - O95467 - - - - - 20q13.32 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 55595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55595 - TNP03-related limb-girdle muscular dystrophy D2 - - Disease - - - Disorder - - - - 23543484[PMID] - - transportin 3 - TNPO3 - - IPO12 - MTR10A - TRN-SR - TRN-SR2 - importin 12 - - - gene with protein product - - - - ClinVar - TNPO3 - - - Ensembl - ENSG00000064419 - - - Genatlas - TNPO3 - - - HGNC - 17103 - - - OMIM - 610032 - - - SwissProt - Q9Y5L0 - - - - - 7q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 55596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55596 - HNRNPDL-related limb-girdle muscular dystrophy D3 - - Disease - - - Disorder - - - - 24647604[PMID] - - heterogeneous nuclear ribonucleoprotein D like - HNRNPDL - - JKTBP - laAUF1 - - - gene with protein product - - - - Reactome - O14979 - - - Ensembl - ENSG00000152795 - - - Genatlas - HNRPDL - - - HGNC - 5037 - - - OMIM - 607137 - - - SwissProt - O14979 - - - ClinVar - HNRPDL - - - - - 4q21.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 54595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54595 - Craniopharyngioma - - Disease - - - Disorder - - - - 24413733[PMID] - - B-Raf proto-oncogene, serine/threonine kinase - BRAF - - BRAF1 - BRAF-1 - - - gene with protein product - - - - Ensembl - ENSG00000157764 - - - Genatlas - BRAF - - - HGNC - 1097 - - - IUPHAR - 1943 - - - OMIM - 164757 - - - Reactome - P15056 - - - SwissProt - P15056 - - - ClinVar - BRAF - - - - - 7q34 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 24413733[PMID] - - catenin beta 1 - CTNNB1 - - armadillo - beta-catenin - - - gene with protein product - - - - ClinVar - CTNNB1 - - - Ensembl - ENSG00000168036 - - - Genatlas - CTNNB1 - - - HGNC - 2514 - - - OMIM - 116806 - - - Reactome - P35222 - - - SwissProt - P35222 - - - - - 3p22.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 56304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56304 - Atelosteogenesis type II - - Malformation syndrome - - - Disorder - - - - 20301493[PMID] - - solute carrier family 26 member 2 - SLC26A2 - - DTDST - diastrophic dysplasia sulfate transporter - - - gene with protein product - - - - Ensembl - ENSG00000155850 - - - Genatlas - SLC26A2 - - - HGNC - 10994 - - - OMIM - 606718 - - - Reactome - P50443 - - - SwissProt - P50443 - - - ClinVar - SLC26A2 - - - IUPHAR - 1098 - - - - - 5q32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 56305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56305 - Atelosteogenesis type III - - Malformation syndrome - - - Disorder - - - - - - filamin B - FLNB - - ABP-278 - FH1 - TABP - TAP - actin binding protein 278 - beta filamin - - - gene with protein product - - - - Ensembl - ENSG00000136068 - - - Genatlas - FLNB - - - HGNC - 3755 - - - OMIM - 603381 - - - Reactome - O75369 - - - SwissProt - O75369 - - - ClinVar - FLNB - - - - - 3p14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 563612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563612 - Isolated exencephaly - - Clinical subtype - - - Subtype of disorder - - - - 31516628[PMID] - - VANGL planar cell polarity protein 2 - VANGL2 - - STB1 - STBM - STBM1 - loop-tail-associated protein - strabismus - vang, van gogh-like 2 - KIAA1215 - LPP1 - LTAP - MGC119403 - MGC119404 - - - gene with protein product - - - - Ensembl - ENSG00000162738 - - - Genatlas - VANGL2 - - - HGNC - 15511 - - - OMIM - 600533 - - - Reactome - Q9ULK5 - - - SwissProt - Q9ULK5 - - - ClinVar - VANGL2 - - - - - 1q23.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 31516628[PMID] - - methylenetetrahydrofolate reductase - MTHFR - - - - gene with protein product - - - - ClinVar - MTHFR - - - OMIM - 607093 - - - Reactome - P42898 - - - SwissProt - P42898 - - - Ensembl - ENSG00000177000 - - - Genatlas - MTHFR - - - HGNC - 7436 - - - - - 1p36.22 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 563609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563609 - Isolated anencephaly - - Clinical subtype - - - Subtype of disorder - - - - 31424828[PMID] - - VANGL planar cell polarity protein 2 - VANGL2 - - STB1 - STBM - STBM1 - loop-tail-associated protein - strabismus - vang, van gogh-like 2 - KIAA1215 - LPP1 - LTAP - MGC119403 - MGC119404 - - - gene with protein product - - - - Ensembl - ENSG00000162738 - - - Genatlas - VANGL2 - - - HGNC - 15511 - - - OMIM - 600533 - - - Reactome - Q9ULK5 - - - SwissProt - Q9ULK5 - - - ClinVar - VANGL2 - - - - - 1q23.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 31424828[PMID] - - methylenetetrahydrofolate reductase - MTHFR - - - - gene with protein product - - - - ClinVar - MTHFR - - - OMIM - 607093 - - - Reactome - P42898 - - - SwissProt - P42898 - - - Ensembl - ENSG00000177000 - - - Genatlas - MTHFR - - - HGNC - 7436 - - - - - 1p36.22 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 55880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55880 - Chondrosarcoma - - Disease - - - Disorder - - - - - - exostosin glycosyltransferase 1 - EXT1 - - Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase - N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase - ttv - - - gene with protein product - - - - ClinVar - EXT1 - - - HGNC - 3512 - - - OMIM - 608177 - - - Reactome - Q16394 - - - SwissProt - Q16394 - - - Ensembl - ENSG00000182197 - - - Genatlas - EXT1 - - - - - 8q24.11 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 55654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55654 - Hypotrichosis simplex - - Disease - - - Disorder - - - - 30401459[PMID] - - lanosterol synthase - LSS - - OSC - Oxidosqualene-lanosterol cyclase - - - gene with protein product - - - - Ensembl - ENSG00000160285 - - - Genatlas - LSS - - - HGNC - 6708 - - - IUPHAR - 2434 - - - OMIM - 600909 - - - Reactome - P48449 - - - SwissProt - P48449 - - - ClinVar - LSS - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18445047[PMID] - - lipase H - LIPH - - LPDLR - PLA1B - mPA-PLA1 - mPA-PLA1alpha - phospholipase A(1) - - - gene with protein product - - - - ClinVar - LIPH - - - Ensembl - ENSG00000163898 - - - Genatlas - LIPH - - - HGNC - 18483 - - - OMIM - 607365 - - - Reactome - Q8WWY8 - - - SwissProt - Q8WWY8 - - - - - 3q27.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20393562[PMID] - - APC down-regulated 1 - APCDD1 - - B7323 - - - gene with protein product - - - - Ensembl - ENSG00000154856 - - - Genatlas - APCDD1 - - - HGNC - 15718 - - - OMIM - 607479 - - - SwissProt - Q8J025 - - - ClinVar - APCDD1 - - - - - 18p11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21412954[PMID] - - ribosomal protein L21 - RPL21 - - 60S ribosomal protein L21 - DKFZp686C06101 - FLJ27458 - L21 - MGC104274 - MGC104275 - MGC71252 - eL21 - - - gene with protein product - - - - Ensembl - ENSG00000122026 - - - Genatlas - RPL21 - - - HGNC - 10313 - - - OMIM - 603636 - - - Reactome - P46778 - - - SwissProt - P46778 - - - ClinVar - RPL21 - - - - - 13q12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23246290[PMID] - - small nuclear ribonucleoprotein polypeptide E - SNRPE - - Sm-E - - - gene with protein product - - - - Ensembl - ENSG00000182004 - - - Genatlas - SNRPE - - - HGNC - 11161 - - - OMIM - 128260 - - - Reactome - P62304 - - - SwissProt - P62304 - - - ClinVar - SNRPE - - - - - 1q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18461368[PMID] - - lysophosphatidic acid receptor 6 - LPAR6 - - P2Y5 - - - gene with protein product - - - - Ensembl - ENSG00000139679 - - - Genatlas - P2RY5 - - - HGNC - 15520 - - - IUPHAR - 163 - - - OMIM - 609239 - - - Reactome - P43657 - - - SwissProt - P43657 - - - ClinVar - P2RY5 - - - - - 13q14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16770573[PMID] - - desmoglein 4 - DSG4 - - CDHF13 - LAH - - - gene with protein product - - - - ClinVar - DSG4 - - - Reactome - Q86SJ6 - - - Ensembl - ENSG00000175065 - - - Genatlas - DSG4 - - - HGNC - 21307 - - - OMIM - 607892 - - - SwissProt - Q86SJ6 - - - - - 18q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 565858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565858 - Craniosynostosis-microretrognathia-severe intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - 29432562[PMID]_28942967[PMID]_30254215[PMID]_30455226[PMID] - - protein phosphatase 3 catalytic subunit alpha - PPP3CA - - calcineurin A alpha - CNA1 - PPP2B - protein phosphatase 2B, catalytic subunit, alpha isoform - - - gene with protein product - - - - ClinVar - PPP3CA - - - HGNC - 9314 - - - SwissProt - Q08209 - - - Ensembl - ENSG00000138814 - - - OMIM - 114105 - - - Genatlas - PPP3CA - - - Reactome - Q08209 - - - - - 4q24 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 565788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565788 - Infantile inflammatory bowel disease with neurological involvement - - Disease - - - Disorder - - - - 29483653[PMID] - - transforming growth factor beta 1 - TGFB1 - - CED - Camurati-Engelmann disease - TGFbeta - prepro-transforming growth factor beta-1 - Diaphyseal dysplasia 1, progressive - - - gene with protein product - - - - ClinVar - TGFB1 - - - Ensembl - ENSG00000105329 - - - Genatlas - TGFB1 - - - HGNC - 11766 - - - OMIM - 190180 - - - Reactome - P01137 - - - SwissProt - P01137 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 565909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565909 - Calpain-3-related limb-girdle muscular dystrophy D4 - - Disease - - - Disorder - - - - 28881388[PMID] - - calpain 3 - CAPN3 - - CANP3 - nCL-1 - p94 - - - gene with protein product - - - - Ensembl - ENSG00000092529 - - - Genatlas - CAPN3 - - - HGNC - 1480 - - - OMIM - 114240 - - - SwissProt - P20807 - - - Reactome - P20807 - - - ClinVar - CAPN3 - - - - - 15q15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79233 - Hypoxanthine guanine phosphoribosyltransferase partial deficiency - - Disease - - - Disorder - - - - 10657589[PMID]_26073243[PMID] - - hypoxanthine phosphoribosyltransferase 1 - HPRT1 - - HGPRT - Lesch-Nyhan syndrome - hypoxanthine guanine phosphoribosyl transferase - - - gene with protein product - - - - Ensembl - ENSG00000165704 - - - Genatlas - HPRT1 - - - HGNC - 5157 - - - OMIM - 308000 - - - Reactome - P00492 - - - SwissProt - P00492 - - - ClinVar - HPRT1 - - - - - Xq26.2-q26.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79230 - HJV or HAMP-related hemochromatosis - - Disease - - - Disorder - - - - 20301349[PMID] - - hemojuvelin BMP co-receptor - HJV - - HFE2A - HJV - JH - RGMC - haemojuvelin - hemojuvelin - repulsive guidance molecule c - - - gene with protein product - - - - Ensembl - ENSG00000168509 - - - Genatlas - HFE2 - - - HGNC - 4887 - - - OMIM - 608374 - - - Reactome - Q6ZVN8 - - - SwissProt - Q6ZVN8 - - - ClinVar - HFE2 - - - - - 1q21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301349[PMID] - - hepcidin antimicrobial peptide - HAMP - - HEPC - HFE2B - LEAP-1 - LEAP1 - - - gene with protein product - - - - ClinVar - HAMP - - - Ensembl - ENSG00000105697 - - - Genatlas - HAMP - - - HGNC - 15598 - - - OMIM - 606464 - - - SwissProt - P81172 - - - - - 19q13.12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79237 - Galactokinase deficiency - - Disease - - - Disorder - - - - 10521295[PMID] - - galactokinase 1 - GALK1 - - - - gene with protein product - - - - ClinVar - GALK1 - - - Ensembl - ENSG00000108479 - - - Genatlas - GALK1 - - - HGNC - 4118 - - - OMIM - 604313 - - - Reactome - P51570 - - - SwissProt - P51570 - - - - - 17q25.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 566067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566067 - CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome - - Disease - - - Disorder - - - - 31201888[PMID] - - CCAAT enhancer binding protein epsilon - CEBPE - - CRP1 - - - gene with protein product - - - - ClinVar - CEBPE - - - Ensembl - ENSG00000092067 - - - Genatlas - CEBPE - - - HGNC - 1836 - - - OMIM - 600749 - - - SwissProt - Q15744 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 79234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79234 - Crigler-Najjar syndrome type 1 - - Clinical subtype - - - Subtype of disorder - - - - 9039987[PMID]_9497253[PMID] - - UDP glucuronosyltransferase family 1 member A1 - UGT1A1 - - UGT1A - - - Disorder-associated locus - - - - IUPHAR - 2990 - - - HGNC - 12530 - - - OMIM - 191740 - - - Reactome - P22309 - - - SwissProt - P22309 - - - Ensembl - ENSG00000241635 - - - Genatlas - UGT1A1 - - - ClinVar - UGT1A1 - - - - - 2q37.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79235 - Crigler-Najjar syndrome type 2 - - Clinical subtype - - - Subtype of disorder - - - - 16456422[PMID]_17098698[PMID] - - UDP glucuronosyltransferase family 1 member A1 - UGT1A1 - - UGT1A - - - Disorder-associated locus - - - - IUPHAR - 2990 - - - HGNC - 12530 - - - OMIM - 191740 - - - Reactome - P22309 - - - SwissProt - P22309 - - - Ensembl - ENSG00000241635 - - - Genatlas - UGT1A1 - - - ClinVar - UGT1A1 - - - - - 2q37.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 565624 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565624 - Combined oxidative phosphorylation defect type 39 - - Disease - - - Disorder - - - - 22700954[PMID]_26016410[PMID]_29075935[PMID] - - GTP dependent ribosome recycling factor mitochondrial 2 - GFM2 - - EF-G2mt - FLJ21661 - EFG2 - ribosome releasing factor 2 - - - gene with protein product - - - - HGNC - 29682 - - - Genatlas - GFM2 - - - Reactome - Q969S9 - - - ClinVar - GFM2 - - - SwissProt - Q969S9 - - - Ensembl - ENSG00000164347 - - - OMIM - 606544 - - - - - 5q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 565612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565612 - Primary triglyceride deposit cardiomyovasculopathy - - Etiological subtype - - - Subtype of disorder - - - - 29539587[PMID]_31186072[PMID] - - patatin like domain 2, triacylglycerol lipase - PNPLA2 - - ATGL - FP17548 - TTS-2.2 - desnutrin - iPLA2zeta - adipose triglyceride lipase - - - gene with protein product - - - - IUPHAR - 3253 - - - Ensembl - ENSG00000177666 - - - Genatlas - PNPLA2 - - - HGNC - 30802 - - - OMIM - 609059 - - - Reactome - Q96AD5 - - - SwissProt - Q96AD5 - - - ClinVar - PNPLA2 - - - - - 11p15.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79157 - 2-methylbutyryl-CoA dehydrogenase deficiency - - Disease - - - Disorder - - - - 20547083[PMID] - - acyl-CoA dehydrogenase short/branched chain - ACADSB - - ACAD7 - SBCAD - - - gene with protein product - - - - ClinVar - ACADSB - - - Ensembl - ENSG00000196177 - - - Genatlas - ACADSB - - - HGNC - 91 - - - OMIM - 600301 - - - Reactome - P45954 - - - SwissProt - P45954 - - - - - 10q26.13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79155 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79155 - Hydroxykynureninuria - - Disease - - - Disorder - - - - 17334708[PMID] - - kynureninase - KYNU - - L-kynurenine hydrolase - - - gene with protein product - - - - Ensembl - ENSG00000115919 - - - Genatlas - KYNU - - - HGNC - 6469 - - - OMIM - 605197 - - - Reactome - Q16719 - - - SwissProt - Q16719 - - - ClinVar - KYNU - - - - - 2q22.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79154 - 2-aminoadipic 2-oxoadipic aciduria - - Disease - - - Disorder - - - - 23141293[PMID] - - dehydrogenase E1 and transketolase domain containing 1 - DHTKD1 - - OADH-E1 - 2-oxoadipate dehydrogenase complex component E1 - E1a - CMT2Q - DKFZP762M115 - KIAA1630 - MGC3090 - OADC-E1 - - - gene with protein product - - - - Ensembl - ENSG00000181192 - - - Genatlas - DHTKD1 - - - HGNC - 23537 - - - OMIM - 614984 - - - Reactome - Q96HY7 - - - SwissProt - Q96HY7 - - - ClinVar - DHTKD1 - - - - - 10p14 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79152 - Disseminated superficial actinic porokeratosis - - Disease - - - Disorder - - - - 22983302[PMID]_26202976[PMID] - - mevalonate kinase - MVK - - LH receptor mRNA-binding protein - LRBP - MK - mevalonic aciduria - - - gene with protein product - - - - ClinVar - MVK - - - Ensembl - ENSG00000110921 - - - Genatlas - MVK - - - HGNC - 7530 - - - IUPHAR - 640 - - - OMIM - 251170 - - - Reactome - Q03426 - - - SwissProt - Q03426 - - - - - 12q24.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25180256[PMID] - - solute carrier family 17 member 9 - SLC17A9 - - FLJ23412 - VNUT - - - gene with protein product - - - - Genatlas - SLC17A9 - - - HGNC - 16192 - - - OMIM - 612107 - - - SwissProt - Q9BYT1 - - - Ensembl - ENSG00000101194 - - - ClinVar - SLC17A9 - - - IUPHAR - 1010 - - - - - 20q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26202976[PMID] - - mevalonate diphosphate decarboxylase - MVD - - MPD - diphosphomevalonate decarboxylase - mevalonate pyrophosphate decarboxylase - - - gene with protein product - - - - ClinVar - MVD - - - Ensembl - ENSG00000167508 - - - Genatlas - MVD - - - HGNC - 7529 - - - IUPHAR - 642 - - - OMIM - 603236 - - - Reactome - P53602 - - - SwissProt - P53602 - - - - - 16q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26202976[PMID] - - farnesyl diphosphate synthase - FDPS - - farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase - - - gene with protein product - - - - ClinVar - FDPS - - - Ensembl - ENSG00000160752 - - - Genatlas - FDPS - - - HGNC - 3631 - - - IUPHAR - 644 - - - OMIM - 134629 - - - Reactome - P14324 - - - SwissProt - P14324 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79151 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79151 - Acrokeratosis verruciformis of Hopf - - Disease - - - Disorder - - - - 12542527[PMID] - - ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 - ATP2A2 - - SERCA2 - calcium pump 2 - sarcoplasmic/endoplasmic reticulum calcium ATPase 2 - - - gene with protein product - - - - Ensembl - ENSG00000174437 - - - Genatlas - ATP2A2 - - - HGNC - 812 - - - OMIM - 108740 - - - Reactome - P16615 - - - SwissProt - P16615 - - - IUPHAR - 841 - - - ClinVar - ATP2A2 - - - - - 12q24.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79146 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79146 - Familial progressive hyperpigmentation - - Disease - - - Disorder - - - - 19375057[PMID] - - KIT ligand - KITLG - - SLF - FPH2 - KL-1 - Kitl - SCF - SF - familial progressive hyperpigmentation 2 - mast cell growth factor - steel factor - stem cell factor - DFNA69 - - - gene with protein product - - - - Ensembl - ENSG00000049130 - - - Genatlas - KITLG - - - HGNC - 6343 - - - OMIM - 184745 - - - Reactome - P21583 - - - SwissProt - P21583 - - - ClinVar - KITLG - - - - - 12q21.32 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 79145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79145 - Dowling-Degos disease - - Disease - - - Disorder - - - - 28287404[PMID] - - presenilin enhancer, gamma-secretase subunit - PSENEN - - PEN2 - - - gene with protein product - - - - Ensembl - ENSG00000205155 - - - Genatlas - PSENEN - - - HGNC - 30100 - - - OMIM - 607632 - - - Reactome - Q9NZ42 - - - SwissProt - Q9NZ42 - - - ClinVar - PSENEN - - - - - 19q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16465624[PMID] - - keratin 5 - KRT5 - - KRT5A - CK-5 - - - gene with protein product - - - - ClinVar - KRT5 - - - Ensembl - ENSG00000186081 - - - Genatlas - KRT5 - - - HGNC - 6442 - - - OMIM - 148040 - - - Reactome - P13647 - - - SwissProt - P13647 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23684010[PMID] - - protein O-fucosyltransferase 1 - POFUT1 - - FUT12 - GDP-fucose protein O-fucosyltransferase 1 - KIAA0180 - O-FUT - O-Fuc-T - Peptide-O-fucosyltransferase - peptide-O-fucosyltransferase - - - gene with protein product - - - - Genatlas - POFUT1 - - - HGNC - 14988 - - - OMIM - 607491 - - - Reactome - Q9H488 - - - SwissProt - Q9H488 - - - Ensembl - ENSG00000101346 - - - ClinVar - POFUT1 - - - - - 20q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24387993[PMID] - - protein O-glucosyltransferase 1 - POGLUT1 - - 9630046K23Rik - KDELC family like 1 - KDELCL1 - MDS010 - MDSRP - MGC32995 - Rumi - hCLP46 - - - gene with protein product - - - - Ensembl - ENSG00000163389 - - - Genatlas - POGLUT1 - - - HGNC - 22954 - - - OMIM - 615618 - - - Reactome - Q8NBL1 - - - SwissProt - Q8NBL1 - - - ClinVar - POGLUT1 - - - - - 3q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79159 - Isobutyryl-CoA dehydrogenase deficiency - - Disease - - - Disorder - - - - 24635911[PMID] - - acyl-CoA dehydrogenase family member 8 - ACAD8 - - isobutyryl-CoA dehydrogenase - - - gene with protein product - - - - ClinVar - ACAD8 - - - Ensembl - ENSG00000151498 - - - Genatlas - ACAD8 - - - HGNC - 87 - - - OMIM - 604773 - - - Reactome - Q9UKU7 - - - SwissProt - Q9UKU7 - - - - - 11q25 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79107 - Developmental malformations-deafness-dystonia syndrome - - Malformation syndrome - - - Disorder - - - - 16685646[PMID] - - actin beta - ACTB - - ß-actin - β-actin - - - gene with protein product - - - - ClinVar - ACTB - - - Ensembl - ENSG00000075624 - - - Genatlas - ACTB - - - HGNC - 132 - - - OMIM - 102630 - - - Reactome - P60709 - - - SwissProt - P60709 - - - - - 7p22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 566231 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566231 - Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha - - Disease - - - Disorder - - - - 25670821[PMID] - - thyroid hormone receptor alpha - THRA - - THRalpha2 - THRalpha1 - THRalpha - AR7 - EAR-7.1/EAR-7.2 - ERBA - NR1A1 - THRA3 - TRalpha2 - c-erbA - nuclear receptor subfamily 1 group A member 1 - c-erbA protooncogene - c-ERBA-1 - TRalpha1 - TRalpha - - - gene with protein product - - - - ClinVar - THRA - - - IUPHAR - 588 - - - OMIM - 190120 - - - Reactome - P10827 - - - SwissProt - P10827 - - - Ensembl - ENSG00000126351 - - - Genatlas - THRA - - - HGNC - 11796 - - - - - 17q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79106 - Eiken syndrome - - Malformation syndrome - - - Disorder - - - - 15525660[PMID] - - parathyroid hormone 1 receptor - PTH1R - - - - gene with protein product - - - - ClinVar - PTH1R - - - Reactome - Q03431 - - - SwissProt - Q03431 - - - Ensembl - ENSG00000160801 - - - Genatlas - PTH1R - - - HGNC - 9608 - - - IUPHAR - 331 - - - OMIM - 168468 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 566243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566243 - Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta - - Disease - - - Disorder - - - - 30976996[PMID] - - thyroid hormone receptor beta - THRB - - ERBA-BETA - GRTH - NR1A2 - THR1 - THRB1 - THRB2 - avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2 - generalized resistance to thyroid hormone - oncogene ERBA2 - thyroid hormone receptor beta 1 - TRb - nuclear receptor subfamily 1 group A member 2 - THRbeta1 - c-erbA-beta - THRbeta - c-erbA-2 - TRbeta - TRbeta1 - Thrbeta2 - - - gene with protein product - - - - ClinVar - THRB - - - SwissProt - P10828 - - - Ensembl - ENSG00000151090 - - - Genatlas - THRB - - - HGNC - 11799 - - - IUPHAR - 589 - - - OMIM - 190160 - - - Reactome - P10828 - - - - - 3p24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79118 - Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome - - Disease - - - Disorder - - - - 16715098[PMID] - - GLIS family zinc finger 3 - GLIS3 - - MGC33662 - Gli-similar 3 - - - gene with protein product - - - - ClinVar - GLIS3 - - - Ensembl - ENSG00000107249 - - - Genatlas - GLIS3 - - - HGNC - 28510 - - - OMIM - 610192 - - - SwissProt - Q8NEA6 - - - - - 9p24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 566393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566393 - Acute mast cell leukemia - - Clinical subtype - - - Subtype of disorder - - - - 25729733[PMID]_22324351[PMID] - - KIT proto-oncogene, receptor tyrosine kinase - KIT - - C-Kit - CD117 - SCFR - mast/stem cell growth factor receptor Kit - - - gene with protein product - - - - ClinVar - KIT - - - Ensembl - ENSG00000157404 - - - Genatlas - KIT - - - HGNC - 6342 - - - IUPHAR - 1805 - - - OMIM - 164920 - - - Reactome - P10721 - - - SwissProt - P10721 - - - - - 4q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79113 - Mandibulofacial dysostosis-microcephaly syndrome - - Malformation syndrome - - - Disorder - - - - 22305528[PMID]_24999515[PMID] - - elongation factor Tu GTP binding domain containing 2 - EFTUD2 - - 116 kDa U5 small nuclear ribonucleoprotein component - SNRNP116 - Snrp116 - Snu114 - U5 snRNP specific protein, 116 kD - U5-116KD - - - gene with protein product - - - - Ensembl - ENSG00000108883 - - - Genatlas - EFTUD2 - - - HGNC - 30858 - - - OMIM - 603892 - - - Reactome - Q15029 - - - SwissProt - Q15029 - - - ClinVar - EFTUD2 - - - - - 17q21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79102 - Thyrotoxic periodic paralysis - - Disease - - - Disorder - - - - 15001631[PMID] - - calcium voltage-gated channel subunit alpha1 S - CACNA1S - - Cav1.1 - hypoPP - - - gene with protein product - - - - Ensembl - ENSG00000081248 - - - Genatlas - CACNA1S - - - HGNC - 1397 - - - IUPHAR - 528 - - - OMIM - 114208 - - - Reactome - Q13698 - - - SwissProt - Q13698 - - - ClinVar - CACNA1S - - - - - 1q32.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 17970773[PMID] - - gamma-aminobutyric acid type A receptor subunit alpha3 - GABRA3 - - GABA(A) receptor, alpha 3 - - - gene with protein product - - - - IUPHAR - 406 - - - OMIM - 305660 - - - Reactome - P34903 - - - SwissProt - P34903 - - - ClinVar - GABRA3 - - - Ensembl - ENSG00000011677 - - - Genatlas - GABRA3 - - - HGNC - 4077 - - - - - Xq28 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 20074522[PMID] - - potassium inwardly rectifying channel subfamily J member 18 - KCNJ18 - - KIR2.6 - TTPP2 - - - gene with protein product - - - - ClinVar - KCNJ18 - - - Ensembl - ENSG00000260458 - - - Genatlas - KCNJ18 - - - HGNC - 39080 - - - OMIM - 613236 - - - SwissProt - B7U540 - - - - - 17p11.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 79105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79105 - Myxofibrosarcoma - - Disease - - - Disorder - - - - - - FUS RNA binding protein - FUS - - FUS1 - HNRNPP2 - TLS - heterogeneous nuclear ribonucleoprotein P2 - hnRNP-P2 - translocated in liposarcoma - - - gene with protein product - - - - ClinVar - FUS - - - Ensembl - ENSG00000089280 - - - Genatlas - FUS - - - HGNC - 4010 - - - OMIM - 137070 - - - Reactome - P35637 - - - SwissProt - P35637 - - - - - 16p11.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - cAMP responsive element binding protein 3 like 2 - CREB3L2 - - BBF2H7 - TCAG_1951439 - BBF2 human homolog on chromosome 7 - - - gene with protein product - - - - ClinVar - CREB3L2 - - - Reactome - Q70SY1 - - - Ensembl - ENSG00000182158 - - - Genatlas - CREB3L2 - - - HGNC - 23720 - - - OMIM - 608834 - - - SwissProt - Q70SY1 - - - - - 7q33 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - cAMP responsive element binding protein 3 like 1 - CREB3L1 - - BBF-2 homolog (drosophila) - OASIS - old astrocyte specifically induced substance - - - gene with protein product - - - - Reactome - Q96BA8 - - - ClinVar - CREB3L1 - - - Ensembl - ENSG00000157613 - - - Genatlas - CREB3L1 - - - HGNC - 18856 - - - OMIM - 616215 - - - SwissProt - Q96BA8 - - - - - 11p11.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 79101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79101 - Hyperprolinemia type 2 - - Disease - - - Disorder - - - - 9700195[PMID] - - aldehyde dehydrogenase 4 family member A1 - ALDH4A1 - - P5CDh - Delta-1-pyrroline-5-carboxylate dehydrogenase - L-glutamate gamma-semialdehyde dehydrogenase - - - gene with protein product - - - - Ensembl - ENSG00000159423 - - - Genatlas - ALDH4A1 - - - HGNC - 406 - - - OMIM - 606811 - - - Reactome - P30038 - - - SwissProt - P30038 - - - ClinVar - ALDH4A1 - - - - - 1p36.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 566192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566192 - Congenital autosomal recessive small-platelet thrombocytopenia - - Disease - - - Disorder - - - - 25876182[PMID] - - FYN binding protein 1 - FYB1 - - ADAP - adhesion and degranulation promoting adaptor protein - FYB-120/130 - SLAP-130 - - - gene with protein product - - - - HGNC - 4036 - - - Ensembl - ENSG00000082074 - - - SwissProt - O15117 - - - OMIM - 602731 - - - Reactome - O15117 - - - - - 5p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79100 - Atrophoderma vermiculata - - Disease - - - Disorder - - - - 26142438[PMID] - - LDL receptor related protein 1 - LRP1 - - APOER - CD91 - LRP - LRP1A - transforming growth factor-alpha receptor type V - transforming growth factor-ß receptor type V - transforming growth factor-β receptor type V - - - gene with protein product - - - - Ensembl - ENSG00000123384 - - - Genatlas - LRP1 - - - HGNC - 6692 - - - OMIM - 107770 - - - Reactome - Q07954 - - - SwissProt - Q07954 - - - ClinVar - LRP1 - - - - - 12q13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79095 - Congenital bile acid synthesis defect type 4 - - Disease - - - Disorder - - - - 18577977[PMID] - - alpha-methylacyl-CoA racemase - AMACR - - P504S - RACE - - - gene with protein product - - - - ClinVar - AMACR - - - Ensembl - ENSG00000242110 - - - Genatlas - AMACR - - - HGNC - 451 - - - OMIM - 604489 - - - Reactome - Q9UHK6 - - - SwissProt - Q9UHK6 - - - - - 5p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79094 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79094 - Grange syndrome - - Malformation syndrome - - - Disorder - - - - 27939641[PMID] - - YY1 associated protein 1 - YY1AP1 - - HCCA2 - YAP - YY1AP - - - gene with protein product - - - - SwissProt - Q9H869 - - - Ensembl - ENSG00000163374 - - - OMIM - 607860 - - - Genatlas - YY1AP1 - - - HGNC - 30935 - - - Reactome - Q9H869 - - - ClinVar - YY1AP1 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 566175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566175 - Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome - - Disease - - - Disorder - - - - 30565236[PMID] - - CD55 molecule (Cromer blood group) - CD55 - - CR - CROM - TC - - - gene with protein product - - - - IUPHAR - 3246 - - - SwissProt - P08174 - - - Ensembl - ENSG00000196352 - - - HGNC - 2665 - - - OMIM - 125240 - - - - - 1q32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79096 - Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy - - Disease - - - Disorder - - - - 15772097[PMID] - - pyridoxamine 5'-phosphate oxidase - PNPO - - PDXPO - pyridoxal 5'-phosphate synthase - - - gene with protein product - - - - ClinVar - PNPO - - - Ensembl - ENSG00000108439 - - - Genatlas - PNPO - - - HGNC - 30260 - - - OMIM - 603287 - - - Reactome - Q9NVS9 - - - SwissProt - Q9NVS9 - - - - - 17q21.32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79134 - DEND syndrome - - Disease - - - Disorder - - - - 22498247[PMID]_21109997[PMID] - - ATP binding cassette subfamily C member 8 - ABCC8 - - ABC36 - HHF1 - HI - MRP8 - PHHI - SUR1 - TNDM2 - sulfonylurea receptor (hyperinsulinemia) - - - gene with protein product - - - - ClinVar - ABCC8 - - - Ensembl - ENSG00000006071 - - - Genatlas - ABCC8 - - - HGNC - 59 - - - IUPHAR - 2594 - - - OMIM - 600509 - - - Reactome - Q09428 - - - SwissProt - Q09428 - - - - - 11p15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22498247[PMID]_17652641[PMID]_22145471[PMID]_23382304[PMID]_24150202[PMID]_24912436[PMID] - - potassium inwardly rectifying channel subfamily J member 11 - KCNJ11 - - ATP-sensitive inward rectifier potassium channel 11 - BIR - Kir6.2 - beta-cell inward rectifier - - - gene with protein product - - - - Ensembl - ENSG00000187486 - - - Genatlas - KCNJ11 - - - HGNC - 6257 - - - IUPHAR - 442 - - - OMIM - 600937 - - - Reactome - Q14654 - - - SwissProt - Q14654 - - - ClinVar - KCNJ11 - - - - - 11p15.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 35703918[PMID] - - asparaginyl-tRNA synthetase 2, mitochondrial - NARS2 - - FLJ23441 - SLM5 - asparagine tRNA ligase 2, mitochondrial (putative) - - - gene with protein product - - - - Ensembl - ENSG00000137513 - - - HGNC - 26274 - - - OMIM - 612803 - - - Reactome - Q96I59 - - - SwissProt - Q96I59 - - - - - 11q14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79137 - Generalized epilepsy-paroxysmal dyskinesia syndrome - - Disease - - - Disorder - - - - 15937479[PMID] - - potassium calcium-activated channel subfamily M alpha 1 - KCNMA1 - - BK channel alpha subunit - KCa1.1 - big potassium channel alpha subunit - mSLO1 - maxiK channel - - - gene with protein product - - - - Ensembl - ENSG00000156113 - - - Genatlas - KCNMA1 - - - HGNC - 6284 - - - IUPHAR - 380 - - - OMIM - 600150 - - - Reactome - Q12791 - - - SwissProt - Q12791 - - - ClinVar - KCNMA1 - - - - - 10q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79124 - Hepatic veno-occlusive disease-immunodeficiency syndrome - - Disease - - - Disorder - - - - 16648851[PMID] - - SP110 nuclear body protein - SP110 - - - - gene with protein product - - - - ClinVar - SP110 - - - IUPHAR - 2778 - - - Ensembl - ENSG00000135899 - - - Genatlas - SP110 - - - HGNC - 5401 - - - OMIM - 604457 - - - SwissProt - Q9HB58 - - - - - 2q37.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 566396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566396 - Chronic mast cell leukemia - - Clinical subtype - - - Subtype of disorder - - - - 25729733[PMID]_22324351[PMID] - - KIT proto-oncogene, receptor tyrosine kinase - KIT - - C-Kit - CD117 - SCFR - mast/stem cell growth factor receptor Kit - - - gene with protein product - - - - ClinVar - KIT - - - Ensembl - ENSG00000157404 - - - Genatlas - KIT - - - HGNC - 6342 - - - IUPHAR - 1805 - - - OMIM - 164920 - - - Reactome - P10721 - - - SwissProt - P10721 - - - - - 4q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 77293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77293 - Chronic visceral acid sphingomyelinase deficiency - - Disease - - - Disorder - - - - 19405096[PMID] - - sphingomyelin phosphodiesterase 1 - SMPD1 - - ASM - acid sphingomyelinase - Niemann-Pick type A/B - - - gene with protein product - - - - IUPHAR - 2514 - - - Ensembl - ENSG00000166311 - - - Genatlas - SMPD1 - - - HGNC - 11120 - - - OMIM - 607608 - - - Reactome - P17405 - - - SwissProt - P17405 - - - ClinVar - SMPD1 - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 77295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77295 - Odontoleukodystrophy - - Clinical subtype - - - Subtype of disorder - - - - 21855841[PMID]_22855961[PMID] - - RNA polymerase III subunit A - POLR3A - - RPC1 - RPC155 - hRPC155 - C160 - - - gene with protein product - - - - ClinVar - POLR3A - - - Ensembl - ENSG00000148606 - - - Genatlas - POLR3A - - - HGNC - 30074 - - - OMIM - 614258 - - - Reactome - O14802 - - - SwissProt - O14802 - - - - - 10q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 77261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261 - Gaucher disease type 3 - - Clinical subtype - - - Subtype of disorder - - - - 20301446[PMID] - - glucosylceramidase beta 1 - GBA1 - - GBA1 - glucocerebrosidase - - - gene with protein product - - - - ClinVar - GBA - - - Ensembl - ENSG00000177628 - - - Genatlas - GBA - - - HGNC - 4177 - - - OMIM - 606463 - - - Reactome - P04062 - - - SwissProt - P04062 - - - IUPHAR - 2978 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 77292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77292 - Infantile neurovisceral acid sphingomyelinase deficiency - - Disease - - - Disorder - - - - 19405096[PMID] - - sphingomyelin phosphodiesterase 1 - SMPD1 - - ASM - acid sphingomyelinase - Niemann-Pick type A/B - - - gene with protein product - - - - IUPHAR - 2514 - - - Ensembl - ENSG00000166311 - - - Genatlas - SMPD1 - - - HGNC - 11120 - - - OMIM - 607608 - - - Reactome - P17405 - - - SwissProt - P17405 - - - ClinVar - SMPD1 - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 77298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77298 - Anophthalmia/microphthalmia-esophageal atresia syndrome - - Malformation syndrome - - - Disorder - - - - 24033328[PMID] - - SRY-box transcription factor 2 - SOX2 - - - - gene with protein product - - - - ClinVar - SOX2 - - - Ensembl - ENSG00000181449 - - - Genatlas - SOX2 - - - HGNC - 11195 - - - OMIM - 184429 - - - Reactome - P48431 - - - SwissProt - P48431 - - - - - 3q26.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 77297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77297 - Majeed syndrome - - Disease - - - Disorder - - - - - - lipin 2 - LPIN2 - - KIAA0249 - Phosphatidate phosphatase LPIN2 - - - gene with protein product - - - - ClinVar - LPIN2 - - - Ensembl - ENSG00000101577 - - - Genatlas - LPIN2 - - - HGNC - 14450 - - - OMIM - 605519 - - - Reactome - Q92539 - - - SwissProt - Q92539 - - - IUPHAR - 1436 - - - - - 18p11.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 567502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567502 - B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome - - Disease - - - Disorder - - - - 31409799[PMID] - - DNA topoisomerase II beta - TOP2B - - top2beta - TOPIIB - - - gene with protein product - - - - HGNC - 11990 - - - Ensembl - ENSG00000077097 - - - SwissProt - Q02880 - - - Reactome - Q02880 - - - OMIM - 126431 - - - - - 3p24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 77301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77301 - Monosomy 9q22.3 syndrome - - Malformation syndrome - - - Disorder - - - - 23169491[PMID] - - patched 1 - PTCH1 - - BCNS - SLC65B1 - - - gene with protein product - - - - ClinVar - PTCH1 - - - Ensembl - ENSG00000185920 - - - Genatlas - PTCH1 - - - HGNC - 9585 - - - OMIM - 601309 - - - Reactome - Q13635 - - - SwissProt - Q13635 - - - - - 9q22.32 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 79083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79083 - PPARG-related familial partial lipodystrophy - - Disease - - - Disorder - - - - 12453919[PMID]_11788685[PMID] - - peroxisome proliferator activated receptor gamma - PPARG - - PPARG2 - PPARgamma - NR1C3 - PPARG1 - - - gene with protein product - - - - Ensembl - ENSG00000132170 - - - Genatlas - PPARG - - - ClinVar - PPARG - - - HGNC - 9236 - - - IUPHAR - 595 - - - OMIM - 601487 - - - Reactome - P37231 - - - SwissProt - P37231 - - - - - 3p25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79076 - Juvenile polyposis of infancy - - Clinical subtype - - - Subtype of disorder - - - - 16685657[PMID]_22993021[PMID]_23331837[PMID] - - phosphatase and tensin homolog - PTEN - - MMAC1 - PTEN1 - TEP1 - mutated in multiple advanced cancers 1 - Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN - - - gene with protein product - - - - IUPHAR - 2497 - - - ClinVar - PTEN - - - HGNC - 9588 - - - OMIM - 601728 - - - Reactome - P60484 - - - SwissProt - P60484 - - - Ensembl - ENSG00000171862 - - - Genatlas - PTEN - - - - - 10q23.31 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 16685657[PMID]_22993021[PMID]_23331837[PMID] - - bone morphogenetic protein receptor type 1A - BMPR1A - - ALK3 - CD292 - - - gene with protein product - - - - HGNC - 1076 - - - IUPHAR - 1786 - - - OMIM - 601299 - - - Reactome - P36894 - - - SwissProt - P36894 - - - ClinVar - BMPR1A - - - Ensembl - ENSG00000107779 - - - Genatlas - BMPR1A - - - - - 10q23.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 79087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79087 - Acquired partial lipodystrophy - - Disease - - - Disorder - - - - 16826530[PMID] - - lamin B2 - LMNB2 - - - - gene with protein product - - - - Ensembl - ENSG00000176619 - - - Genatlas - LMNB2 - - - HGNC - 6638 - - - OMIM - 150341 - - - SwissProt - Q03252 - - - Reactome - Q03252 - - - ClinVar - LMNB2 - - - - - 19p13.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 79085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79085 - AKT2-related familial partial lipodystrophy - - Disease - - - Disorder - - - - 16409151[PMID]_21865368[PMID] - - AKT serine/threonine kinase 2 - AKT2 - - PKBß - - - gene with protein product - - - - ClinVar - AKT2 - - - Ensembl - ENSG00000105221 - - - Genatlas - AKT2 - - - HGNC - 392 - - - IUPHAR - 1480 - - - OMIM - 164731 - - - Reactome - P31751 - - - SwissProt - P31751 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79084 - Familial partial lipodystrophy, Köbberling type - - Disease - - - Disorder - - - - 15298354[PMID]_18041775[PMID] - - lamin A/C - LMNA - - HGPS - MADA - mandibuloacral dysplasia type A - progerin - - - gene with protein product - - - - ClinVar - LMNA - - - Ensembl - ENSG00000160789 - - - Genatlas - LMNA - - - HGNC - 6636 - - - OMIM - 150330 - - - Reactome - P02545 - - - SwissProt - P02545 - - - - - 1q22 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 79091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79091 - Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome - - Disease - - - Disorder - - - - 11114175[PMID] - - myosin heavy chain 2 - MYH2 - - MYH2A - MYHSA2 - MYHas8 - MyHC-2A - MyHC-IIa - - - gene with protein product - - - - ClinVar - MYH2 - - - Ensembl - ENSG00000125414 - - - Genatlas - MYH2 - - - HGNC - 7572 - - - OMIM - 160740 - - - Reactome - Q9UKX2 - - - SwissProt - Q9UKX2 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 75327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75327 - North Carolina macular dystrophy - - Disease - - - Disorder - - - - 26507665[PMID] - - DNase1 hypersensitivity, chromosome 6, site 1 - DHS6S1 - - - - Disorder-associated locus - - - - OMIM - 616842 - - - - - 6q16.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 75373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75373 - Progressive bifocal chorioretinal atrophy - - Disease - - - Disorder - - - - 30710461[PMID] - - DNase1 hypersensitivity, chromosome 6, site 1 - DHS6S1 - - - - Disorder-associated locus - - - - OMIM - 616842 - - - - - 6q16.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 75374 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75374 - Bradyopsia - - Disease - - - Disorder - - - - 14702087[PMID] - - regulator of G protein signaling 9 binding protein - RGS9BP - - FLJ45744 - PERRS - R9AP - RGS9 - - - gene with protein product - - - - Ensembl - ENSG00000186326 - - - Genatlas - RGS9BP - - - HGNC - 30304 - - - OMIM - 607814 - - - Reactome - Q6ZS82 - - - SwissProt - Q6ZS82 - - - ClinVar - RGS9BP - - - - - 19q13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 14702087[PMID] - - regulator of G protein signaling 9 - RGS9 - - MGC111763 - MGC26458 - PERRS - RGS9L - regulator of G protein signalling 9 - regulator of G protein signalling 9L - regulator of G-protein signaling 9L - - - gene with protein product - - - - Ensembl - ENSG00000108370 - - - Genatlas - RGS9 - - - HGNC - 10004 - - - OMIM - 604067 - - - Reactome - O75916 - - - SwissProt - O75916 - - - ClinVar - RGS9 - - - IUPHAR - 2817 - - - - - 17q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 75376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75376 - Familial drusen - - Disease - - - Disorder - - - - 25986072[PMID] - - complement factor I - CFI - - C3b-INA - C3b-inactivator - FI - KAF - Konglutinogen-activating factor - - - gene with protein product - - - - OMIM - 217030 - - - Reactome - P05156 - - - SwissProt - P05156 - - - Ensembl - ENSG00000205403 - - - Genatlas - CFI - - - HGNC - 5394 - - - ClinVar - CFI - - - - - 4q25 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18252232[PMID] - - complement factor H - CFH - - ARMD4 - ARMS1 - FHL1 - H factor 2 (complement) - HUS - age-related maculopathy susceptibility 1 - beta-1H - - - gene with protein product - - - - Ensembl - ENSG00000000971 - - - Genatlas - CFH - - - HGNC - 4883 - - - OMIM - 134370 - - - Reactome - P08603 - - - SwissProt - P08603 - - - ClinVar - CFH - - - - - 1q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19850834[PMID] - - EGF containing fibulin extracellular matrix protein 1 - EFEMP1 - - FBLN3 - MTLV - S1-5 - fibulin 3 - - - gene with protein product - - - - Ensembl - ENSG00000115380 - - - Genatlas - EFEMP1 - - - HGNC - 3218 - - - OMIM - 601548 - - - Reactome - Q12805 - - - SwissProt - Q12805 - - - ClinVar - EFEMP1 - - - - - 2p16.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 75377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75377 - Central areolar choroidal dystrophy - - Disease - - - Disorder - - - - 28125083[PMID] - - guanylate cyclase activator 1A - GUCA1A - - GCAP-I - COD3 - CORD14 - GCAP - GCAP1 - cone dystrophy 3 - dJ139D8.6 - GCAP-1 - - - gene with protein product - - - - ClinVar - GUCA1A - - - Ensembl - ENSG00000048545 - - - Genatlas - GUCA1A - - - HGNC - 4678 - - - OMIM - 600364 - - - Reactome - P43080 - - - SwissProt - P43080 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 14557183[PMID] - - peripherin 2 - PRPH2 - - CACD2 - TSPAN22 - rd2 - retinal peripherin - tetraspanin-22 - choroidal dystrophy, central areolar 2 - - - gene with protein product - - - - ClinVar - PRPH2 - - - Ensembl - ENSG00000112619 - - - Genatlas - PRPH2 - - - HGNC - 9942 - - - OMIM - 179605 - - - SwissProt - P23942 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22695961[PMID] - - guanylate cyclase 2D, retinal - GUCY2D - - ROS-GC - Leber congenital amaurosis 1 - CYGD - LCA1 - RETGC-1 - ROS-GC1 - retGC - retinal guanylate cyclase 1 - rod outer segment membrane guanylate cyclase - - - gene with protein product - - - - ClinVar - GUCY2D - - - Ensembl - ENSG00000132518 - - - Genatlas - GUCY2D - - - HGNC - 4689 - - - IUPHAR - 2031 - - - OMIM - 600179 - - - Reactome - Q02846 - - - SwissProt - Q02846 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 75382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75382 - Oguchi disease - - Malformation syndrome - - - Disorder - - - - 15295660[PMID]_22419846[PMID] - - S-antigen visual arrestin - SAG - - rod arrestin - ARRESTIN - RP47 - arrestin 1 - - - gene with protein product - - - - ClinVar - SAG - - - Ensembl - ENSG00000130561 - - - Genatlas - SAG - - - HGNC - 10521 - - - OMIM - 181031 - - - Reactome - P10523 - - - SwissProt - P10523 - - - - - 2q37.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 9020843[PMID]_19753316[PMID] - - G protein-coupled receptor kinase 1 - GRK1 - - GPRK1 - RK - - - gene with protein product - - - - ClinVar - GRK1 - - - Genatlas - GRK1 - - - HGNC - 10013 - - - IUPHAR - 1465 - - - OMIM - 180381 - - - Reactome - Q15835 - - - SwissProt - Q15835 - - - Ensembl - ENSG00000185974 - - - - - 13q34 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 75391 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75391 - Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency - - Disease - - - Disorder - - - - 22405088[PMID]_22354170[PMID] - - minichromosome maintenance complex component 4 - MCM4 - - DNA replication licensing factor MCM4 - CDC54 - MGC33310 - P1-Cdc21 - hCdc21 - - - gene with protein product - - - - SwissProt - P33991 - - - Ensembl - ENSG00000104738 - - - Genatlas - MCM4 - - - HGNC - 6947 - - - OMIM - 602638 - - - Reactome - P33991 - - - ClinVar - MCM4 - - - - - 8q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 75392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75392 - Periodontal Ehlers-Danlos syndrome - - Disease - - - Disorder - - - - 27745832[PMID] - - complement C1s - C1S - - - - gene with protein product - - - - ClinVar - C1S - - - Ensembl - ENSG00000182326 - - - Genatlas - C1S - - - HGNC - 1247 - - - IUPHAR - 2335 - - - OMIM - 120580 - - - Reactome - P09871 - - - SwissProt - P09871 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 27745832[PMID] - - complement C1r - C1R - - - - gene with protein product - - - - Ensembl - ENSG00000159403 - - - Genatlas - C1R - - - HGNC - 1246 - - - IUPHAR - 2334 - - - OMIM - 613785 - - - Reactome - P00736 - - - SwissProt - P00736 - - - ClinVar - C1R - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 75496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496 - B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - Subtype of disorder - - - - 15211654[PMID] - - beta-1,4-galactosyltransferase 7 - B4GALT7 - - XGALT-1 - beta4Gal-T7 - galactosyltransferase I - - - gene with protein product - - - - ClinVar - B4GALT7 - - - Ensembl - ENSG00000027847 - - - Genatlas - B4GALT7 - - - HGNC - 930 - - - OMIM - 604327 - - - Reactome - Q9UBV7 - - - SwissProt - Q9UBV7 - - - - - 5q35.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 75497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75497 - X-linked Ehlers-Danlos syndrome - - Disease - - - Disorder - - - - 27739212[PMID] - - filamin A - FLNA - - ABP-280 - actin binding protein 280 - alpha filamin - - - gene with protein product - - - - Ensembl - ENSG00000196924 - - - Genatlas - FLNA - - - HGNC - 3754 - - - OMIM - 300017 - - - Reactome - P21333 - - - SwissProt - P21333 - - - ClinVar - FLNA - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 75563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75563 - X-linked sideroblastic anemia - - Disease - - - Disorder - - - - 21309041[PMID] - - 5'-aminolevulinate synthase 2 - ALAS2 - - sideroblastic/hypochromic anemia - erythroid-specific delta-aminolevulinate synthase - ALAS-E - - - gene with protein product - - - - Ensembl - ENSG00000158578 - - - Genatlas - ALAS2 - - - HGNC - 397 - - - OMIM - 301300 - - - Reactome - P22557 - - - SwissProt - P22557 - - - ClinVar - ALAS2 - - - - - Xp11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 75564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75564 - Acquired idiopathic sideroblastic anemia - - Disease - - - Disorder - - - - 19557078[PMID]_19483684[PMID] - - tet methylcytosine dioxygenase 2 - TET2 - - FLJ20032 - ten-eleven translocation 2 - - - gene with protein product - - - - ClinVar - TET2 - - - Ensembl - ENSG00000168769 - - - Genatlas - TET2 - - - HGNC - 25941 - - - OMIM - 612839 - - - Reactome - Q6N021 - - - SwissProt - Q6N021 - - - - - 4q24 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 24507814[PMID] - - splicing factor 3b subunit 1 - SF3B1 - - Hsh155 - PRPF10 - Prp10 - SAP155 - SF3b155 - - - gene with protein product - - - - SwissProt - O75533 - - - Ensembl - ENSG00000115524 - - - Genatlas - SF3B1 - - - HGNC - 10768 - - - OMIM - 605590 - - - Reactome - O75533 - - - ClinVar - SF3B1 - - - - - 2q33.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 75857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75857 - 6q terminal deletion syndrome - - Malformation syndrome - - - Disorder - - - - 24056535[PMID] - - ER membrane associated RNA degradation - ERMARD - - FLJ11152 - dJ266L20.3 - - - gene with protein product - - - - ClinVar - C6orf70 - - - Ensembl - ENSG00000130023 - - - Genatlas - C6orf70 - - - HGNC - 21056 - - - OMIM - 615532 - - - SwissProt - Q5T6L9 - - - - - 6q27 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 75840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75840 - Ullrich congenital muscular dystrophy - - Disease - - - Disorder - - - - 18366090[PMID]_20301676[PMID] - - collagen type VI alpha 1 chain - COL6A1 - - - - gene with protein product - - - - ClinVar - COL6A1 - - - SwissProt - P12109 - - - Ensembl - ENSG00000142156 - - - Genatlas - COL6A1 - - - HGNC - 2211 - - - OMIM - 120220 - - - Reactome - P12109 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18366090[PMID]_20301676[PMID] - - collagen type VI alpha 2 chain - COL6A2 - - - - gene with protein product - - - - ClinVar - COL6A2 - - - Ensembl - ENSG00000142173 - - - Genatlas - COL6A2 - - - HGNC - 2212 - - - OMIM - 120240 - - - Reactome - P12110 - - - SwissProt - P12110 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18366090[PMID]_20301676[PMID] - - collagen type VI alpha 3 chain - COL6A3 - - - - gene with protein product - - - - ClinVar - COL6A3 - - - Ensembl - ENSG00000163359 - - - Genatlas - COL6A3 - - - HGNC - 2213 - - - OMIM - 120250 - - - Reactome - P12111 - - - SwissProt - P12111 - - - - - 2q37.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24334604[PMID] - - collagen type XII alpha 1 chain - COL12A1 - - collagen type XII proteoglycan - - - gene with protein product - - - - Ensembl - ENSG00000111799 - - - Genatlas - COL12A1 - - - HGNC - 2188 - - - OMIM - 120320 - - - Reactome - Q99715 - - - SwissProt - Q99715 - - - ClinVar - COL12A1 - - - - - 6q13-q14.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 75858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75858 - MORM syndrome - - Disease - - - Disorder - - - - 19668215[PMID] - - inositol polyphosphate-5-phosphatase E - INPP5E - - CORS1 - PPI5PIV - pharbin - Phosphatidylinositol polyphosphate 5-phosphatase type IV - - - gene with protein product - - - - Ensembl - ENSG00000148384 - - - Genatlas - INPP5E - - - HGNC - 21474 - - - OMIM - 613037 - - - Reactome - Q9NRR6 - - - SwissProt - Q9NRR6 - - - ClinVar - INPP5E - - - IUPHAR - 1456 - - - - - 9q34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 77258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77258 - Trichorhinophalangeal syndrome type 1 - - Malformation syndrome - - - Disorder - - - - - - transcriptional repressor GATA binding 1 - TRPS1 - - GC79 - LGCR - - - gene with protein product - - - - ClinVar - TRPS1 - - - Ensembl - ENSG00000104447 - - - Genatlas - TRPS1 - - - HGNC - 12340 - - - OMIM - 604386 - - - SwissProt - Q9UHF7 - - - - - 8q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 77260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77260 - Gaucher disease type 2 - - Clinical subtype - - - Subtype of disorder - - - - 20301446[PMID] - - glucosylceramidase beta 1 - GBA1 - - GBA1 - glucocerebrosidase - - - gene with protein product - - - - ClinVar - GBA - - - Ensembl - ENSG00000177628 - - - Genatlas - GBA - - - HGNC - 4177 - - - OMIM - 606463 - - - Reactome - P04062 - - - SwissProt - P04062 - - - IUPHAR - 2978 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 77259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259 - Gaucher disease type 1 - - Clinical subtype - - - Subtype of disorder - - - - 20301446[PMID] - - glucosylceramidase beta 1 - GBA1 - - GBA1 - glucocerebrosidase - - - gene with protein product - - - - ClinVar - GBA - - - Ensembl - ENSG00000177628 - - - Genatlas - GBA - - - HGNC - 4177 - - - OMIM - 606463 - - - Reactome - P04062 - - - SwissProt - P04062 - - - IUPHAR - 2978 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21796727[PMID] - - scavenger receptor class B member 2 - SCARB2 - - lysosome membrane protein 2 - lysosomal integral membrane protein II - HLGP85 - LIMP-2 - LIMPII - SR-BII - - - gene with protein product - - - - ClinVar - SCARB2 - - - Reactome - Q14108 - - - Ensembl - ENSG00000138760 - - - Genatlas - SCARB2 - - - HGNC - 1665 - - - OMIM - 602257 - - - SwissProt - Q14108 - - - - - 4q21.1 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - - - 569821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569821 - Congenital primary lymphedema of Gordon - - Disease - - - Disorder - - - - 30071673[PMID] - - vascular endothelial growth factor C - VEGFC - - VRP - vascular endothelial growth factor-related protein - VEGF-C - - - gene with protein product - - - - ClinVar - VEGFC - - - Ensembl - ENSG00000150630 - - - Genatlas - VEGFC - - - HGNC - 12682 - - - OMIM - 601528 - - - Reactome - P49767 - - - SwissProt - P49767 - - - - - 4q34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 569816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569816 - CELSR1-related late-onset primary lymphedema - - Disease - - - Disorder - - - - 26855770[PMID]_31215153[PMID] - - cadherin EGF LAG seven-pass G-type receptor 1 - CELSR1 - - FMI2 - ADGRC1 - HFMI2 - ME2 - CDHF9 - flamingo homolog 2 (Drosophila) - adhesion G protein-coupled receptor C1 - - - gene with protein product - - - - Genatlas - CELSR1 - - - HGNC - 1850 - - - OMIM - 604523 - - - Ensembl - ENSG00000075275 - - - IUPHAR - 178 - - - SwissProt - Q9NYQ6 - - - ClinVar - CELSR1 - - - - - 22q13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 73272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73272 - Growth delay due to insulin-like growth factor type 1 deficiency - - Disease - - - Disorder - - - - 8857020[PMID]_14684690[PMID] - - insulin like growth factor 1 - IGF1 - - IGF-I - IGF1A - IGFI - somatomedin C - IGF - - - gene with protein product - - - - ClinVar - IGF1 - - - Ensembl - ENSG00000017427 - - - Genatlas - IGF1 - - - HGNC - 5464 - - - OMIM - 147440 - - - Reactome - P05019 - - - SwissProt - P05019 - - - - - 12q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 73273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73273 - Growth delay due to insulin-like growth factor I resistance - - Disease - - - Disorder - - - - 14657428[PMID] - - insulin like growth factor 1 receptor - IGF1R - - CD221 - IGFIR - IGFR - JTK13 - MGC18216 - - - gene with protein product - - - - Ensembl - ENSG00000140443 - - - Genatlas - IGF1R - - - HGNC - 5465 - - - IUPHAR - 1801 - - - OMIM - 147370 - - - Reactome - P08069 - - - SwissProt - P08069 - - - ClinVar - IGF1R - - - - - 15q26.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 75326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75326 - Familial isolated retinal arteriolar tortuosity - - Disease - - - Disorder - - - - 25228067[PMID] - - collagen type IV alpha 1 chain - COL4A1 - - - - gene with protein product - - - - ClinVar - COL4A1 - - - Ensembl - ENSG00000187498 - - - Genatlas - COL4A1 - - - HGNC - 2202 - - - OMIM - 120130 - - - Reactome - P02462 - - - SwissProt - P02462 - - - - - 13q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 75249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75249 - Familial isolated restrictive cardiomyopathy - - Disease - - - Disorder - - - - 26666891[PMID] - - filamin C - FLNC - - ABP-280 - ABPL - actin binding protein 280 - gamma filamin - - - gene with protein product - - - - Ensembl - ENSG00000128591 - - - Genatlas - FLNC - - - HGNC - 3756 - - - OMIM - 102565 - - - Reactome - Q14315 - - - SwissProt - Q14315 - - - ClinVar - FLNC - - - - - 7q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29357359[PMID] - - kinesin family member 20A - KIF20A - - MKLP2 - mitotic kinesin-like protein 2 - - - gene with protein product - - - - HGNC - 9787 - - - Ensembl - ENSG00000112984 - - - SwissProt - O95235 - - - OMIM - 605664 - - - Genatlas - KIF20A - - - Reactome - O95235 - - - ClinVar - KIF20A - - - - - 5q31.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 12531876[PMID] - - troponin I3, cardiac type - TNNI3 - - CMH7 - TNNC1 - cTNI - - - gene with protein product - - - - Ensembl - ENSG00000129991 - - - Genatlas - TNNI3 - - - HGNC - 11947 - - - OMIM - 191044 - - - Reactome - P19429 - - - SwissProt - P19429 - - - ClinVar - TNNI3 - - - - - 19q13.42 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16651346[PMID] - - troponin T2, cardiac type - TNNT2 - - CMPD2 - - - gene with protein product - - - - Ensembl - ENSG00000118194 - - - Genatlas - TNNT2 - - - HGNC - 11949 - - - OMIM - 191045 - - - Reactome - P45379 - - - SwissProt - P45379 - - - ClinVar - TNNT2 - - - - - 1q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22286171[PMID] - - myopalladin - MYPN - - MYOP - Sarcomeric protein myopalladin, 145 kDa - sarcomeric protein myopalladin, 145 kDa - - - gene with protein product - - - - Ensembl - ENSG00000138347 - - - Genatlas - MYPN - - - HGNC - 23246 - - - OMIM - 608517 - - - SwissProt - Q86TC9 - - - ClinVar - MYPN - - - - - 10q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 75234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75234 - Cholesteryl ester storage disease - - Clinical subtype - - - Subtype of disorder - - - - 22227072[PMID]_26225414[PMID] - - lipase A, lysosomal acid type - LIPA - - CESD - LAL - Wolman disease - lysosomal acid lipase - sterol esterase - - - gene with protein product - - - - Reactome - P38571 - - - ClinVar - LIPA - - - Ensembl - ENSG00000107798 - - - Genatlas - LIPA - - - HGNC - 6617 - - - OMIM - 613497 - - - SwissProt - P38571 - - - - - 10q23.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 75233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75233 - Wolman disease - - Clinical subtype - - - Subtype of disorder - - - - 22227072[PMID]_26225414[PMID] - - lipase A, lysosomal acid type - LIPA - - CESD - LAL - Wolman disease - lysosomal acid lipase - sterol esterase - - - gene with protein product - - - - Reactome - P38571 - - - ClinVar - LIPA - - - Ensembl - ENSG00000107798 - - - Genatlas - LIPA - - - HGNC - 6617 - - - OMIM - 613497 - - - SwissProt - P38571 - - - - - 10q23.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 568065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568065 - EPHB4-related lymphatic-related hydrops fetalis - - Disease - - - Disorder - - - - 27400125[PMID] - - EPH receptor B4 - EPHB4 - - Tyro11 - - - gene with protein product - - - - SwissProt - P54760 - - - ClinVar - EPHB4 - - - Ensembl - ENSG00000196411 - - - IUPHAR - 1833 - - - OMIM - 600011 - - - HGNC - 3395 - - - Genatlas - EPHB4 - - - - - 7q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 71290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71290 - Familial platelet disorder with associated myeloid malignancy - - Disease - - - Disorder - - - - 30600763[PMID] - - RUNX family transcription factor 1 - RUNX1 - - AMLCR1 - PEBP2A2 - aml1 oncogene - - - gene with protein product - - - - ClinVar - RUNX1 - - - Ensembl - ENSG00000159216 - - - Genatlas - RUNX1 - - - HGNC - 10471 - - - OMIM - 151385 - - - Reactome - Q01196 - - - SwissProt - Q01196 - - - - - 21q22.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 568062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568062 - PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis - - Disease - - - Disorder - - - - 26333996[PMID]_33227434[PMID] - - piezo type mechanosensitive ion channel component 1 (Er blood group) - PIEZO1 - - KIAA0233 - - - gene with protein product - - - - IUPHAR - 2945 - - - ClinVar - PIEZO1 - - - Ensembl - ENSG00000103335 - - - Genatlas - PIEZO1 - - - HGNC - 28993 - - - OMIM - 611184 - - - SwissProt - Q92508 - - - - - 16q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 71493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71493 - Familial thrombocytosis - - Disease - - - Disorder - - - - - - thrombopoietin - THPO - - MPL ligand - MPLLG - TPO - c-mpl ligand - megakaryocyte colony-stimulating factor - megakaryocyte growth and development factor - megakaryocyte stimulating factor - myeloproliferative leukemia virus oncogene ligand - prepro-thrombopoietin - thrombopoietin nirs - - - gene with protein product - - - - ClinVar - THPO - - - Ensembl - ENSG00000090534 - - - Genatlas - THPO - - - HGNC - 11795 - - - OMIM - 600044 - - - Reactome - P40225 - - - SwissProt - P40225 - - - - - 3q27.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 22397670[PMID] - - Janus kinase 2 - JAK2 - - JTK10 - - - gene with protein product - - - - Ensembl - ENSG00000096968 - - - Genatlas - JAK2 - - - HGNC - 6192 - - - IUPHAR - 2048 - - - OMIM - 147796 - - - Reactome - O60674 - - - SwissProt - O60674 - - - ClinVar - JAK2 - - - - - 9p24.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - MPL proto-oncogene, thrombopoietin receptor - MPL - - CD110 - TPOR - THPOR - - - gene with protein product - - - - ClinVar - MPL - - - Ensembl - ENSG00000117400 - - - Genatlas - MPL - - - HGNC - 7217 - - - IUPHAR - 1722 - - - OMIM - 159530 - - - Reactome - P40238 - - - SwissProt - P40238 - - - - - 1p34.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 568051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568051 - GJC2-related late-onset primary lymphedema - - Disease - - - Disorder - - - - 29906362[PMID]_20537300[PMID] - - gap junction protein gamma 2 - GJC2 - - CX46.6 - CX47 - SPG44 - connexin 47 - - - gene with protein product - - - - ClinVar - GJC2 - - - Ensembl - ENSG00000198835 - - - Genatlas - GJC2 - - - HGNC - 17494 - - - OMIM - 608803 - - - Reactome - Q5T442 - - - SwissProt - Q5T442 - - - IUPHAR - 731 - - - - - 1q42.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 71289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71289 - Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome - - Malformation syndrome - - - Disorder - - - - 26581901[PMID] - - MDS1 and EVI1 complex locus - MECOM - - MDS1-EVI1 - PR domain 3 - PRDM3 - KMT8E - - - gene with protein product - - - - SwissProt - Q03112 - - - Ensembl - ENSG00000085276 - - - Genatlas - MECOM - - - HGNC - 3498 - - - OMIM - 165215 - - - Reactome - Q03112 - - - ClinVar - MECOM - - - - - 3q26.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11101832[PMID] - - homeobox A11 - HOXA11 - - - - gene with protein product - - - - ClinVar - HOXA11 - - - Ensembl - ENSG00000005073 - - - Genatlas - HOXA11 - - - HGNC - 5101 - - - OMIM - 142958 - - - SwissProt - P31270 - - - - - 7p15.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 71526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71526 - Obesity due to pro-opiomelanocortin deficiency - - Etiological subtype - - - Subtype of disorder - - - - 24354022[PMID] - - proopiomelanocortin - POMC - - beta-endorphin - beta-lipotropin - beta-melanocyte stimulating hormone - opiomelanocortin prepropeptide - ACTH - CLIP - LPH - MSH - NPP - POC - adrenocorticotropic hormone - adrenocorticotropin - alpha-melanocyte stimulating hormone - - - gene with protein product - - - - Ensembl - ENSG00000115138 - - - Genatlas - POMC - - - HGNC - 9201 - - - OMIM - 176830 - - - Reactome - P01189 - - - SwissProt - P01189 - - - ClinVar - POMC - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 71528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71528 - Obesity due to prohormone convertase I deficiency - - Etiological subtype - - - Subtype of disorder - - - - 9207799[PMID]_17595246[PMID] - - proprotein convertase subtilisin/kexin type 1 - PCSK1 - - prohormone convertase 3 - proprotein convertase 1 - PC1/3 - PC1 - PC3 - SPC3 - prohormone convertase 1 - proprotein convertase 1/3 - - - gene with protein product - - - - IUPHAR - 2382 - - - OMIM - 162150 - - - Reactome - P29120 - - - SwissProt - P29120 - - - Ensembl - ENSG00000175426 - - - Genatlas - PCSK1 - - - HGNC - 8743 - - - ClinVar - PCSK1 - - - - - 5q15 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 71529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71529 - Obesity due to melanocortin 4 receptor deficiency - - Etiological subtype - - - Subtype of disorder - - - - 10903343[PMID] - - melanocortin 4 receptor - MC4R - - - - gene with protein product - - - - Ensembl - ENSG00000166603 - - - Genatlas - MC4R - - - HGNC - 6932 - - - IUPHAR - 285 - - - OMIM - 155541 - - - Reactome - P32245 - - - SwissProt - P32245 - - - ClinVar - MC4R - - - - - 18q21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 569164 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569164 - Angiomatoid fibrous histiocytoma - - Disease - - - Disorder - - - - 28114920[PMID] - - cAMP responsive element binding protein 1 - CREB1 - - - - gene with protein product - - - - OMIM - 123810 - - - Reactome - P16220 - - - SwissProt - P16220 - - - Ensembl - ENSG00000118260 - - - Genatlas - CREB1 - - - HGNC - 2345 - - - ClinVar - CREB1 - - - - - 2q33.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 28114920[PMID] - - EWS RNA binding protein 1 - EWSR1 - - EWS - - - gene with protein product - - - - Reactome - Q01844 - - - Ensembl - ENSG00000182944 - - - Genatlas - EWSR1 - - - HGNC - 3508 - - - OMIM - 133450 - - - SwissProt - Q01844 - - - ClinVar - EWSR1 - - - - - 22q12.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 71517 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71517 - Rapid-onset dystonia-parkinsonism - - Disease - - - Disorder - - - - - - ATPase Na+/K+ transporting subunit alpha 3 - ATP1A3 - - sodium pump subunit alpha-3 - sodium-potassium ATPase catalytic subunit alpha-3 - sodium/potassium-transporting ATPase subunit alpha-3 - - - gene with protein product - - - - ClinVar - ATP1A3 - - - IUPHAR - 835 - - - Ensembl - ENSG00000105409 - - - Genatlas - ATP1A3 - - - HGNC - 801 - - - OMIM - 182350 - - - Reactome - P13637 - - - SwissProt - P13637 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 71518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71518 - Benign paroxysmal torticollis of infancy - - Disease - - - Disorder - - - - 12162387[PMID] - - calcium voltage-gated channel subunit alpha1 A - CACNA1A - - APCA - Cav2.1 - EA2 - FHM - HPCA - - - gene with protein product - - - - ClinVar - CACNA1A - - - Ensembl - ENSG00000141837 - - - Genatlas - CACNA1A - - - HGNC - 1388 - - - IUPHAR - 532 - - - OMIM - 601011 - - - Reactome - O00555 - - - SwissProt - O00555 - - - - - 19p13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 569274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569274 - Multiple mitochondrial dysfunctions syndrome type 5 - - Disease - - - Disorder - - - - 28356563[PMID] - - iron-sulfur cluster assembly 1 - ISCA1 - - hIscA1 - ISA1 - MGC4276 - hIscA - - - gene with protein product - - - - Reactome - Q9BUE6 - - - Genatlas - ISCA1 - - - OMIM - 611006 - - - ClinVar - ISCA1 - - - HGNC - 28660 - - - SwissProt - Q9BUE6 - - - Ensembl - ENSG00000135070 - - - - - 9q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 569290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569290 - Multiple mitochondrial dysfunctions syndrome type 6 - - Disease - - - Disorder - - - - 29576218[PMID] - - peptidase, mitochondrial processing subunit beta - PMPCB - - MPPB - MPPP52 - MAS1 - beta-MPP - - - gene with protein product - - - - HGNC - 9119 - - - Ensembl - ENSG00000105819 - - - SwissProt - O75439 - - - Reactome - O75439 - - - OMIM - 603131 - - - - - 7q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 569248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569248 - Microcystic stromal tumor - - Disease - - - Disorder - - - - 28551672[PMID] - - catenin beta 1 - CTNNB1 - - armadillo - beta-catenin - - - gene with protein product - - - - ClinVar - CTNNB1 - - - Ensembl - ENSG00000168036 - - - Genatlas - CTNNB1 - - - HGNC - 2514 - - - OMIM - 116806 - - - Reactome - P35222 - - - SwissProt - P35222 - - - - - 3p22.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 73229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73229 - HANAC syndrome - - Disease - - - Disorder - - - - 18160688[PMID]_20301768[PMID] - - collagen type IV alpha 1 chain - COL4A1 - - - - gene with protein product - - - - ClinVar - COL4A1 - - - Ensembl - ENSG00000187498 - - - Genatlas - COL4A1 - - - HGNC - 2202 - - - OMIM - 120130 - - - Reactome - P02462 - - - SwissProt - P02462 - - - - - 13q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 73224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73224 - Kidney tubulopathy-dilated cardiomyopathy syndrome - - Disease - - - Disorder - - - - 34607910[PMID] - - Ras related GTP binding D - RRAGD - - bA11D8.2.1 - DKFZP761H171 - - - gene with protein product - - - - HGNC - 19903 - - - Ensembl - ENSG00000025039 - - - OMIM - 608268 - - - SwissProt - Q9NQL2 - - - - - 6q15 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 530849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530849 - Familial apolipoprotein A5 deficiency - - Etiological subtype - - - Subtype of disorder - - - - 25732519[PMID]_29980054[PMID] - - apolipoprotein A5 - APOA5 - - APOA-V - RAP3 - - - gene with protein product - - - - Ensembl - ENSG00000110243 - - - Genatlas - APOA5 - - - HGNC - 17288 - - - OMIM - 606368 - - - Reactome - Q6Q788 - - - SwissProt - Q6Q788 - - - ClinVar - APOA5 - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 39041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39041 - Omenn syndrome - - Disease - - - Disorder - - - - - - adenosine deaminase - ADA - - ADA1 - - - gene with protein product - - - - ClinVar - ADA - - - Ensembl - ENSG00000196839 - - - Genatlas - ADA - - - HGNC - 186 - - - IUPHAR - 1230 - - - OMIM - 608958 - - - Reactome - P00813 - - - SwissProt - P00813 - - - - - 20q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - recombination activating 1 - RAG1 - - MGC43321 - RING finger protein 74 - RNF74 - V(D)J recombination-activating protein 1 - recombination activating protein 1 - - - gene with protein product - - - - ClinVar - RAG1 - - - Ensembl - ENSG00000166349 - - - Genatlas - RAG1 - - - HGNC - 9831 - - - OMIM - 179615 - - - Reactome - P15918 - - - SwissProt - P15918 - - - - - 11p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - recombination activating 2 - RAG2 - - - - gene with protein product - - - - ClinVar - RAG2 - - - Ensembl - ENSG00000175097 - - - Genatlas - RAG2 - - - HGNC - 9832 - - - OMIM - 179616 - - - Reactome - P55895 - - - SwissProt - P55895 - - - - - 11p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - chromodomain helicase DNA binding protein 7 - CHD7 - - FLJ20357 - FLJ20361 - KIAA1416 - - - gene with protein product - - - - Ensembl - ENSG00000171316 - - - Genatlas - CHD7 - - - HGNC - 20626 - - - OMIM - 608892 - - - SwissProt - Q9P2D1 - - - ClinVar - CHD7 - - - - - 8q12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - DNA cross-link repair 1C - DCLRE1C - - A-SCID - ARTEMIS - FLJ11360 - PSO2 homolog (S. cerevisiae) - SNM1C - - - gene with protein product - - - - Ensembl - ENSG00000152457 - - - Genatlas - DCLRE1C - - - HGNC - 17642 - - - OMIM - 605988 - - - Reactome - Q96SD1 - - - SwissProt - Q96SD1 - - - ClinVar - DCLRE1C - - - - - 10p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - interleukin 2 receptor subunit gamma - IL2RG - - CD132 - - - gene with protein product - - - - ClinVar - IL2RG - - - Ensembl - ENSG00000147168 - - - Genatlas - IL2RG - - - HGNC - 6010 - - - OMIM - 308380 - - - Reactome - P31785 - - - SwissProt - P31785 - - - IUPHAR - 2303 - - - - - Xq13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - DNA ligase 4 - LIG4 - - DNA joinase - DNA repair enzyme - polydeoxyribonucleotide synthase [ATP] 4 - polynucleotide ligase - sealase - DNA ligase IV - - - gene with protein product - - - - ClinVar - LIG4 - - - Ensembl - ENSG00000174405 - - - Genatlas - LIG4 - - - HGNC - 6601 - - - OMIM - 601837 - - - Reactome - P49917 - - - SwissProt - P49917 - - - - - 13q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - RNA component of mitochondrial RNA processing endoribonuclease - RMRP - - NME1 - RMRPR - RRP2 - RNase MRP RNA - - - Non-coding RNA - - - - ClinVar - RMRP - - - Ensembl - ENSG00000277027 - - - Genatlas - RMRP - - - HGNC - 10031 - - - OMIM - 157660 - - - SwissProt - - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - interleukin 7 receptor - IL7R - - CD127 - soluble interleukin-7 receptor - lnc-IL7R - IL7RA - CDw127 - IL-7Ralpha - IL7Ralpha - Interleukin-7 receptor subunit alpha - sIL-7R - - - gene with protein product - - - - ClinVar - IL7R - - - IUPHAR - 1698 - - - Ensembl - ENSG00000168685 - - - Genatlas - IL7R - - - HGNC - 6024 - - - OMIM - 146661 - - - Reactome - P16871 - - - SwissProt - P16871 - - - - - 5p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 38503300[PMID] - - proteasome 20S subunit beta 10 - PSMB10 - - - - gene with protein product - - - - HGNC - 9538 - - - - - 16q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 530838 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530838 - KRT1-related diffuse nonepidermolytic keratoderma - - Disease - - - Disorder - - - - 29489036[PMID] - - keratin 1 - KRT1 - - KRT1A - - - gene with protein product - - - - Ensembl - ENSG00000167768 - - - Genatlas - KRT1 - - - HGNC - 6412 - - - OMIM - 139350 - - - SwissProt - P04264 - - - ClinVar - KRT1 - - - Reactome - P04264 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 39044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39044 - Uveal melanoma - - Disease - - - Disorder - - - - 27089179[PMID] - - cysteinyl leukotriene receptor 2 - CYSLTR2 - - CysLT(2) - CYSLT2R - - - gene with protein product - - - - ClinVar - CYSLTR2 - - - HGNC - 18274 - - - OMIM - 605666 - - - Genatlas - CYSLTR2 - - - SwissProt - Q9NS75 - - - Reactome - Q9NS75 - - - Ensembl - ENSG00000152207 - - - IUPHAR - 270 - - - - - 13q14.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 21941004[PMID] - - BRCA1 associated deubiquitinase 1 - BAP1 - - KIAA0272 - UCHL2 - hucep-6 - ubiquitin carboxy-terminal hydrolase L2 - - - gene with protein product - - - - Reactome - Q92560 - - - Ensembl - ENSG00000163930 - - - Genatlas - BAP1 - - - HGNC - 950 - - - IUPHAR - 2332 - - - OMIM - 603089 - - - SwissProt - Q92560 - - - ClinVar - BAP1 - - - - - 3p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21051595[PMID] - - BRCA1 associated deubiquitinase 1 - BAP1 - - KIAA0272 - UCHL2 - hucep-6 - ubiquitin carboxy-terminal hydrolase L2 - - - gene with protein product - - - - Reactome - Q92560 - - - Ensembl - ENSG00000163930 - - - Genatlas - BAP1 - - - HGNC - 950 - - - IUPHAR - 2332 - - - OMIM - 603089 - - - SwissProt - Q92560 - - - ClinVar - BAP1 - - - - - 3p21.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 21083380[PMID]_23714557[PMID] - - G protein subunit alpha q - GNAQ - - G-ALPHA-q - GAQ - - - gene with protein product - - - - IUPHAR - 2914 - - - Ensembl - ENSG00000156052 - - - Genatlas - GNAQ - - - HGNC - 4390 - - - OMIM - 600998 - - - Reactome - P50148 - - - SwissProt - P50148 - - - ClinVar - GNAQ - - - - - 9q21.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 21083380[PMID]_23714557[PMID] - - G protein subunit alpha 11 - GNA11 - - FBH - FBH2 - FHH2 - - - gene with protein product - - - - Reactome - P29992 - - - SwissProt - P29992 - - - Ensembl - ENSG00000088256 - - - Genatlas - GNA11 - - - HGNC - 4379 - - - OMIM - 139313 - - - ClinVar - GNA11 - - - - - 19p13.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 23861464[PMID]_23714557[PMID] - - splicing factor 3b subunit 1 - SF3B1 - - Hsh155 - PRPF10 - Prp10 - SAP155 - SF3b155 - - - gene with protein product - - - - SwissProt - O75533 - - - Ensembl - ENSG00000115524 - - - Genatlas - SF3B1 - - - HGNC - 10768 - - - OMIM - 605590 - - - Reactome - O75533 - - - ClinVar - SF3B1 - - - - - 2q33.1 - 1 - - - - - Biomarker tested in - - - Assessed - - - - - - 530792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530792 - RELA fusion-positive ependymoma - - Disease - - - Disorder - - - - 28895660[PMID] - - zinc finger translocation associated - ZFTA - - MGC3032 - - - gene with protein product - - - - ClinVar - C11orf95 - - - Ensembl - ENSG00000188070 - - - Genatlas - C11orf95 - - - HGNC - 28449 - - - OMIM - 615699 - - - SwissProt - C9JLR9 - - - - - 11q13.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 28895660[PMID] - - RELA proto-oncogene, NF-kB subunit - RELA - - p65 - - - gene with protein product - - - - ClinVar - RELA - - - IUPHAR - 3280 - - - Ensembl - ENSG00000173039 - - - Genatlas - RELA - - - HGNC - 9955 - - - OMIM - 164014 - - - Reactome - Q04206 - - - SwissProt - Q04206 - - - - - 11q13.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 38874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=38874 - Dihydropyrimidinuria - - Disease - - - Disorder - - - - 9718352[PMID]_20362666[PMID] - - dihydropyrimidinase - DPYS - - DHPase - - - gene with protein product - - - - Reactome - Q14117 - - - SwissProt - Q14117 - - - ClinVar - DPYS - - - Ensembl - ENSG00000147647 - - - Genatlas - DPYS - - - HGNC - 3013 - - - OMIM - 613326 - - - - - 8q22.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 530303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530303 - Progressive dementia with neuroserpin inclusion bodies - - Clinical subtype - - - Subtype of disorder - - - - 12103288[PMID] - - serpin family I member 1 - SERPINI1 - - neuroserpin - - - gene with protein product - - - - ClinVar - SERPINI1 - - - Ensembl - ENSG00000163536 - - - Genatlas - SERPINI1 - - - HGNC - 8943 - - - OMIM - 602445 - - - SwissProt - Q99574 - - - - - 3q26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 37612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37612 - Episodic ataxia type 1 - - Disease - - - Disorder - - - - 20301785[PMID] - - potassium voltage-gated channel subfamily A member 1 - KCNA1 - - HUK1 - Kv1.1 - MBK1 - RBK1 - - - gene with protein product - - - - Ensembl - ENSG00000111262 - - - Genatlas - KCNA1 - - - HGNC - 6218 - - - IUPHAR - 538 - - - OMIM - 176260 - - - Reactome - Q09470 - - - SwissProt - Q09470 - - - ClinVar - KCNA1 - - - - - 12p13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 37553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37553 - Andersen-Tawil syndrome - - Disease - - - Disorder - - - - 20301441[PMID]_16571646[PMID] - - potassium inwardly rectifying channel subfamily J member 2 - KCNJ2 - - IRK1 - Kir2.1 - LQT7 - - - gene with protein product - - - - Ensembl - ENSG00000123700 - - - Genatlas - KCNJ2 - - - HGNC - 6263 - - - IUPHAR - 430 - - - OMIM - 600681 - - - Reactome - P63252 - - - SwissProt - P63252 - - - ClinVar - KCNJ2 - - - - - 17q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24574546[PMID] - - potassium inwardly rectifying channel subfamily J member 5 - KCNJ5 - - CIR - GIRK4 - KATP1 - Kir3.4 - LQT13 - G protein-activated inward rectifier potassium channel 4 - - - gene with protein product - - - - Ensembl - ENSG00000120457 - - - Genatlas - KCNJ5 - - - HGNC - 6266 - - - IUPHAR - 437 - - - OMIM - 600734 - - - Reactome - P48544 - - - SwissProt - P48544 - - - ClinVar - KCNJ5 - - - - - 11q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 37042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37042 - Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome - - Disease - - - Disorder - - - - 11137993[PMID] - - forkhead box P3 - FOXP3 - - AIID - DIETER - JM2 - PIDX - SCURFIN - XPID - - - gene with protein product - - - - ClinVar - FOXP3 - - - Reactome - Q9BZS1 - - - Ensembl - ENSG00000049768 - - - Genatlas - FOXP3 - - - HGNC - 6106 - - - OMIM - 300292 - - - SwissProt - Q9BZS1 - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 36899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36899 - Myoclonus-dystonia syndrome - - Disease - - - Disorder - - - - - - sarcoglycan epsilon - SGCE - - - - gene with protein product - - - - ClinVar - SGCE - - - Ensembl - ENSG00000127990 - - - Genatlas - SGCE - - - HGNC - 10808 - - - OMIM - 604149 - - - SwissProt - O43556 - - - - - 7q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - torsin family 1 member A - TOR1A - - DQ2 - torsin A - torsin-1A - torsinA - - - gene with protein product - - - - Ensembl - ENSG00000136827 - - - Genatlas - TOR1A - - - HGNC - 3098 - - - OMIM - 605204 - - - SwissProt - O14656 - - - ClinVar - TOR1A - - - Reactome - O14656 - - - - - 9q34.11 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - dopamine receptor D2 - DRD2 - - dopamine D2 receptor - D2R - - - gene with protein product - - - - Ensembl - ENSG00000149295 - - - Genatlas - DRD2 - - - HGNC - 3023 - - - IUPHAR - 215 - - - OMIM - 126450 - - - Reactome - P14416 - - - SwissProt - P14416 - - - ClinVar - DRD2 - - - - - 11q23.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - dystonia 15, myoclonic - DYT15 - - - - Disorder-associated locus - - - - Ensembl - - - - OMIM - - - - SwissProt - - - - HGNC - 31376 - - - - - 18p11 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 25983243[PMID] - - potassium channel tetramerization domain containing 17 - KCTD17 - - FLJ12242 - - - gene with protein product - - - - HGNC - 25705 - - - OMIM - 616386 - - - Genatlas - KCTD17 - - - SwissProt - Q8N5Z5 - - - Reactome - Q8N5Z5 - - - Ensembl - ENSG00000100379 - - - ClinVar - KCTD17 - - - - - 22q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 41751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=41751 - Bietti crystalline dystrophy - - Disease - - - Disorder - - - - 15042513[PMID]_21565171[PMID]_22497028[PMID] - - cytochrome P450 family 4 subfamily V member 2 - CYP4V2 - - CYP4AH1 - - - gene with protein product - - - - ClinVar - CYP4V2 - - - IUPHAR - 1350 - - - Ensembl - ENSG00000145476 - - - Genatlas - CYP4V2 - - - HGNC - 23198 - - - OMIM - 608614 - - - Reactome - Q6ZWL3 - - - SwissProt - Q6ZWL3 - - - - - 4q35.1-q35.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 42062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42062 - Iminoglycinuria - - Disease - - - Disorder - - - - 19033659[PMID] - - solute carrier family 6 member 20 - SLC6A20 - - XT3 - Xtrp3 - IMINO - SIT1 - sodium-dependent imino acid transporter 1 - - - gene with protein product - - - - IUPHAR - 944 - - - Ensembl - ENSG00000163817 - - - Genatlas - SLC6A20 - - - HGNC - 30927 - - - OMIM - 605616 - - - Reactome - Q9NP91 - - - SwissProt - Q9NP91 - - - ClinVar - SLC6A20 - - - - - 3p21.31 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 19033659[PMID] - - solute carrier family 36 member 2 - SLC36A2 - - PAT2 - TRAMD1 - tramdorin - - - gene with protein product - - - - IUPHAR - 1162 - - - ClinVar - SLC36A2 - - - Reactome - Q495M3 - - - SwissProt - Q495M3 - - - Ensembl - ENSG00000186335 - - - Genatlas - SLC36A2 - - - HGNC - 18762 - - - OMIM - 608331 - - - - - 5q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19033659[PMID] - - solute carrier family 6 member 18 - SLC6A18 - - FLJ31236 - Xtrp2 - - - gene with protein product - - - - Ensembl - ENSG00000164363 - - - Genatlas - SLC6A18 - - - HGNC - 26441 - - - OMIM - 610300 - - - Reactome - Q96N87 - - - SwissProt - Q96N87 - - - ClinVar - SLC6A18 - - - IUPHAR - 941 - - - - - 5p15.33 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 19033659[PMID] - - solute carrier family 6 member 19 - SLC6A19 - - Hartnup disease - broad neutral amino acid transporter 1 - B0AT1 - Sodium-dependent neutral amino acid transporter B(0)AT1 - - - gene with protein product - - - - Ensembl - ENSG00000174358 - - - Genatlas - SLC6A19 - - - HGNC - 27960 - - - OMIM - 608893 - - - Reactome - Q695T7 - - - SwissProt - Q695T7 - - - IUPHAR - 939 - - - ClinVar - SLC6A19 - - - - - 5p15.33 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 35706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35706 - Glutaric acidemia type 3 - - Disease - - - Disorder - - - - 18926513[PMID] - - succinyl-CoA:glutarate-CoA transferase - SUGCT - - Russel-Silver syndrome candidate - dermal papilla derived protein 13 - DERP13 - FLJ11808 - ORF19 - succinate-hydroxymethylglutarate CoA-transferase - - - gene with protein product - - - - ClinVar - C7orf10 - - - Ensembl - ENSG00000175600 - - - Genatlas - C7orf10 - - - HGNC - 16001 - - - OMIM - 609187 - - - SwissProt - Q9HAC7 - - - - - 7p14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 35704 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35704 - L-Arginine:glycine amidinotransferase deficiency - - Disease - - - Disorder - - - - 20301745[PMID] - - glycine amidinotransferase - GATM - - L-arginine:glycine amidinotransferase - AGAT - - - gene with protein product - - - - IUPHAR - 1246 - - - ClinVar - GATM - - - Ensembl - ENSG00000171766 - - - Genatlas - GATM - - - HGNC - 4175 - - - OMIM - 602360 - - - Reactome - P50440 - - - SwissProt - P50440 - - - - - 15q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 35710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35710 - Glucose-galactose malabsorption - - Disease - - - Disorder - - - - 8563765[PMID]_12139397[PMID] - - solute carrier family 5 member 1 - SLC5A1 - - D22S675 - NAGT - sodium/glucose cotransporter 1 - SGLT-1 - - - gene with protein product - - - - ClinVar - SLC5A1 - - - Ensembl - ENSG00000100170 - - - Genatlas - SLC5A1 - - - HGNC - 11036 - - - OMIM - 182380 - - - Reactome - P13866 - - - SwissProt - P13866 - - - IUPHAR - 915 - - - - - 22q12.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 35737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35737 - Morning glory disc anomaly - - Morphological anomaly - - - Disorder - - - - 12721955[PMID] - - paired box 6 - PAX6 - - AN - D11S812E - WAGR - aniridia, keratitis - Aniridia 1 - Aniridia 2 - - - gene with protein product - - - - Ensembl - ENSG00000007372 - - - Genatlas - PAX6 - - - HGNC - 8620 - - - OMIM - 607108 - - - Reactome - P26367 - - - SwissProt - P26367 - - - ClinVar - PAX6 - - - - - 11p13 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 35708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35708 - Aromatic L-amino acid decarboxylase deficiency - - Disease - - - Disorder - - - - 21541720[PMID]_24865461[PMID] - - dopa decarboxylase - DDC - - AADC - aromatic L-amino acid decarboxylase - - - gene with protein product - - - - ClinVar - DDC - - - Ensembl - ENSG00000132437 - - - Genatlas - DDC - - - HGNC - 2719 - - - IUPHAR - 1271 - - - OMIM - 107930 - - - Reactome - P20711 - - - SwissProt - P20711 - - - - - 7p12.2-p12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 35689 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35689 - Primary lateral sclerosis - - Disease - - - Disorder - - - - 27123479[PMID] - - SPG7 matrix AAA peptidase subunit, paraplegin - SPG7 - - CAR - SPG5C - paraplegin - - - gene with protein product - - - - ClinVar - SPG7 - - - Reactome - Q9UQ90 - - - Ensembl - ENSG00000197912 - - - Genatlas - SPG7 - - - HGNC - 11237 - - - OMIM - 602783 - - - SwissProt - Q9UQ90 - - - - - 16q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 35701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35701 - 3-hydroxy-3-methylglutaryl-CoA synthase deficiency - - Disease - - - Disorder - - - - 11479731[PMID]_23751782[PMID] - - 3-hydroxy-3-methylglutaryl-CoA synthase 2 - HMGCS2 - - - - gene with protein product - - - - ClinVar - HMGCS2 - - - Ensembl - ENSG00000134240 - - - Genatlas - HMGCS2 - - - HGNC - 5008 - - - IUPHAR - 2432 - - - OMIM - 600234 - - - Reactome - P54868 - - - SwissProt - P54868 - - - - - 1p12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 35612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35612 - Nanophthalmos - - Malformation syndrome - - - Disorder - - - - 15976030[PMID] - - membrane frizzled-related protein - MFRP - - C1q and TNF related 5 - C1QTNF5 - FLJ30570 - NNO2 - membrane-type frizzled-related protein - rd6 - - - gene with protein product - - - - Ensembl - ENSG00000235718 - - - Genatlas - MFRP - - - HGNC - 18121 - - - OMIM - 606227 - - - SwissProt - Q9BY79 - - - ClinVar - MFRP - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24852644[PMID] - - transmembrane protein 98 - TMEM98 - - DKFZP564K1964 - - - gene with protein product - - - - Ensembl - ENSG00000006042 - - - HGNC - 24529 - - - OMIM - 615949 - - - SwissProt - Q9Y2Y6 - - - - - 17q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24033328[PMID] - - orthodenticle homeobox 2 - OTX2 - - - - gene with protein product - - - - SwissProt - P32243 - - - Ensembl - ENSG00000165588 - - - Genatlas - OTX2 - - - HGNC - 8522 - - - OMIM - 600037 - - - ClinVar - OTX2 - - - - - 14q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - SIX homeobox 6 - SIX6 - - Six9 - - - gene with protein product - - - - ClinVar - SIX6 - - - Ensembl - ENSG00000184302 - - - Genatlas - SIX6 - - - HGNC - 10892 - - - OMIM - 606326 - - - SwissProt - O95475 - - - - - 14q23.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 24033328[PMID] - - retina and anterior neural fold homeobox - RAX - - RX - retinal homeobox protein Rx - RAX1 - - - gene with protein product - - - - ClinVar - RAX - - - Ensembl - ENSG00000134438 - - - Genatlas - RAX - - - HGNC - 18662 - - - OMIM - 601881 - - - SwissProt - Q9Y2V3 - - - - - 18q21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23312594[PMID] - - aldehyde dehydrogenase 1 family member A3 - ALDH1A3 - - RALDH3 - Retinaldehyde dehydrogenase 3 - retinaldehyde dehydrogenase 3 - - - gene with protein product - - - - Ensembl - ENSG00000184254 - - - Genatlas - ALDH1A3 - - - HGNC - 409 - - - OMIM - 600463 - - - Reactome - P47895 - - - SwissProt - P47895 - - - ClinVar - ALDH1A3 - - - - - 15q26.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21850159[PMID] - - serine protease 56 - PRSS56 - - - - gene with protein product - - - - ClinVar - PRSS56 - - - Ensembl - ENSG00000237412 - - - Genatlas - PRSS56 - - - HGNC - 39433 - - - OMIM - 613858 - - - SwissProt - P0CW18 - - - - - 2q37.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24033328[PMID] - - SRY-box transcription factor 2 - SOX2 - - - - gene with protein product - - - - ClinVar - SOX2 - - - Ensembl - ENSG00000181449 - - - Genatlas - SOX2 - - - HGNC - 11195 - - - OMIM - 184429 - - - Reactome - P48431 - - - SwissProt - P48431 - - - - - 3q26.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19375515[PMID] - - bestrophin 1 - BEST1 - - BEST - BMD - Best disease - RP50 - - - gene with protein product - - - - ClinVar - BEST1 - - - Ensembl - ENSG00000167995 - - - Genatlas - BEST1 - - - HGNC - 12703 - - - OMIM - 607854 - - - Reactome - O76090 - - - SwissProt - O76090 - - - - - 11q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19375515[PMID] - - crumbs cell polarity complex component 1 - CRB1 - - LCA8 - - - gene with protein product - - - - Ensembl - ENSG00000134376 - - - Genatlas - CRB1 - - - HGNC - 2343 - - - OMIM - 604210 - - - SwissProt - P82279 - - - Reactome - P82279 - - - ClinVar - CRB1 - - - - - 1q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 35173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35173 - X-linked dominant chondrodysplasia punctata - - Disease - - - Disorder - - - - 21634086[PMID] - - EBP cholestenol delta-isomerase - EBP - - CHO2 - CPX - CPXD - Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome) - sterol 8-isomerase - 3-beta-hydroxysteroid-delta-8,delta-7-isomerase - - - gene with protein product - - - - SwissProt - Q15125 - - - Ensembl - ENSG00000147155 - - - Genatlas - EBP - - - HGNC - 3133 - - - OMIM - 300205 - - - Reactome - Q15125 - - - ClinVar - EBP - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 35664 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664 - ALDH18A1-related De Barsy syndrome - - Etiological subtype - - - Subtype of disorder - - - - 21739576[PMID] - - aldehyde dehydrogenase 18 family member A1 - ALDH18A1 - - P5CS - delta-1-pyrroline-5-carboxylate synthase - - - gene with protein product - - - - HGNC - 9722 - - - OMIM - 138250 - - - Reactome - P54886 - - - SwissProt - P54886 - - - Ensembl - ENSG00000059573 - - - Genatlas - ALDH18A1 - - - ClinVar - ALDH18A1 - - - - - 10q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 35120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35120 - Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency - - Disease - - - Disorder - - - - 11369620[PMID]_12714505[PMID] - - 5'-nucleotidase, cytosolic IIIA - NT5C3A - - hUMP1 - lupin - p36 - P5'N-1 - PN-I - POMP - PSN1 - UMPH - UMPH1 - cN-III - - - gene with protein product - - - - IUPHAR - 1237 - - - ClinVar - NT5C3A - - - Ensembl - ENSG00000122643 - - - Genatlas - NT5C3A - - - HGNC - 17820 - - - OMIM - 606224 - - - Reactome - Q9H0P0 - - - SwissProt - Q9H0P0 - - - - - 7p14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 35107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35107 - Desmosterolosis - - Disease - - - Disorder - - - - 21671375[PMID] - - 24-dehydrocholesterol reductase - DHCR24 - - KIAA0018 - seladin-1 - 3beta-hydroxysterol delta24 reductase - Delta(24)-sterol reductase - - - gene with protein product - - - - ClinVar - DHCR24 - - - Ensembl - ENSG00000116133 - - - Genatlas - DHCR24 - - - HGNC - 2859 - - - OMIM - 606418 - - - Reactome - Q15392 - - - SwissProt - Q15392 - - - - - 1p32.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 35099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35099 - Non-syndromic bicoronal craniosynostosis - - Morphological anomaly - - - Disorder - - - - 10914960[PMID] - - fibroblast growth factor receptor 3 - FGFR3 - - CD333 - CEK2 - JTK4 - - - gene with protein product - - - - Ensembl - ENSG00000068078 - - - Genatlas - FGFR3 - - - HGNC - 3690 - - - IUPHAR - 1810 - - - OMIM - 134934 - - - Reactome - P22607 - - - SwissProt - P22607 - - - ClinVar - FGFR3 - - - - - 4p16.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26340333[PMID] - - Zic family member 1 - ZIC1 - - ZIC - ZNF201 - - - gene with protein product - - - - Reactome - Q15915 - - - ClinVar - ZIC1 - - - Ensembl - ENSG00000152977 - - - Genatlas - ZIC1 - - - HGNC - 12872 - - - OMIM - 600470 - - - SwissProt - Q15915 - - - - - 3q24 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 23354436[PMID] - - transcription factor 12 - TCF12 - - p64 - HEB - HTF4 - Helix-loop-helix transcription factor 4 - HsT17266 - bHLHb20 - helix-loop-helix transcription factor 4 - - - gene with protein product - - - - ClinVar - TCF12 - - - Ensembl - ENSG00000140262 - - - Genatlas - TCF12 - - - HGNC - 11623 - - - OMIM - 600480 - - - Reactome - Q99081 - - - SwissProt - Q99081 - - - - - 15q21.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 17343269[PMID] - - twist family bHLH transcription factor 1 - TWIST1 - - SCS - Saethre-Chotzen syndrome - bHLHa38 - BPES2 - CRS1 - H-twist - - - gene with protein product - - - - ClinVar - TWIST1 - - - Reactome - Q15672 - - - HGNC - 12428 - - - OMIM - 601622 - - - SwissProt - Q15672 - - - Ensembl - ENSG00000122691 - - - Genatlas - TWIST1 - - - - - 7p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 35122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35122 - Congenital sucrase-isomaltase deficiency - - Disease - - - Disorder - - - - - - sucrase-isomaltase - SI - - Oligosaccharide alpha-1,6-glucosidase - alpha-glucosidase - Oligo-1,6-glucosidase - Alpha-methylglucosidase - - - gene with protein product - - - - ClinVar - SI - - - Ensembl - ENSG00000090402 - - - Genatlas - SI - - - HGNC - 10856 - - - OMIM - 609845 - - - Reactome - P14410 - - - SwissProt - P14410 - - - - - 3q26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 36387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387 - Genetic epilepsy with febrile seizure plus - - Disease - - - Disorder - - - - 30351409[PMID] - - hyperpolarization activated cyclic nucleotide gated potassium channel 1 - HCN1 - - BCNG-1 - HAC-2 - - - gene with protein product - - - - Ensembl - ENSG00000164588 - - - Genatlas - HCN1 - - - HGNC - 4845 - - - IUPHAR - 400 - - - OMIM - 602780 - - - Reactome - O60741 - - - SwissProt - O60741 - - - ClinVar - HCN1 - - - - - 5p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33245860[PMID]_26063919[PMID] - - fibroblast growth factor 13 - FGF13 - - FHF2 - FGF2 - FLJ30672 - fibroblast growth factor homologous factor 2 - - - gene with protein product - - - - Ensembl - ENSG00000129682 - - - OMIM - 300070 - - - HGNC - 3670 - - - SwissProt - Q92913 - - - - - Xq26.3-q27.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301494[PMID] - - sodium voltage-gated channel alpha subunit 1 - SCN1A - - GEFSP2 - HBSCI - NAC1 - Nav1.1 - SMEI - - - gene with protein product - - - - ClinVar - SCN1A - - - Ensembl - ENSG00000144285 - - - Genatlas - SCN1A - - - HGNC - 10585 - - - IUPHAR - 578 - - - OMIM - 182389 - - - Reactome - P35498 - - - SwissProt - P35498 - - - - - 2q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - sodium voltage-gated channel beta subunit 1 - SCN1B - - - - gene with protein product - - - - ClinVar - SCN1B - - - Ensembl - ENSG00000105711 - - - Genatlas - SCN1B - - - HGNC - 10586 - - - OMIM - 600235 - - - Reactome - Q07699 - - - SwissProt - Q07699 - - - - - 19q13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - sodium voltage-gated channel alpha subunit 2 - SCN2A - - HBSCI - HBSCII - Nav1.2 - - - gene with protein product - - - - ClinVar - SCN2A - - - Ensembl - ENSG00000136531 - - - Genatlas - SCN2A - - - HGNC - 10588 - - - IUPHAR - 579 - - - OMIM - 182390 - - - Reactome - Q99250 - - - SwissProt - Q99250 - - - - - 2q24.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - sodium voltage-gated channel alpha subunit 9 - SCN9A - - ETHA - NE-NA - NENA - Nav1.7 - PN1 - - - gene with protein product - - - - ClinVar - SCN9A - - - Ensembl - ENSG00000169432 - - - Genatlas - SCN9A - - - HGNC - 10597 - - - IUPHAR - 584 - - - OMIM - 603415 - - - Reactome - Q15858 - - - SwissProt - Q15858 - - - - - 2q24.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - gamma-aminobutyric acid type A receptor subunit delta - GABRD - - GABAARdelta - GABA(A) receptor, delta - - - gene with protein product - - - - ClinVar - GABRD - - - Ensembl - ENSG00000187730 - - - Genatlas - GABRD - - - HGNC - 4084 - - - IUPHAR - 416 - - - OMIM - 137163 - - - SwissProt - O14764 - - - - - 1p36.33 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - gamma-aminobutyric acid type A receptor subunit gamma2 - GABRG2 - - GABA(A) receptor, gamma 2 - - - gene with protein product - - - - ClinVar - GABRG2 - - - Ensembl - ENSG00000113327 - - - Genatlas - GABRG2 - - - HGNC - 4087 - - - IUPHAR - 414 - - - OMIM - 137164 - - - Reactome - P18507 - - - SwissProt - P18507 - - - - - 5q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25362483[PMID] - - syntaxin 1B - STX1B - - - - gene with protein product - - - - Ensembl - ENSG00000099365 - - - Genatlas - STX1B - - - HGNC - 18539 - - - OMIM - 601485 - - - Reactome - P61266 - - - SwissProt - P61266 - - - ClinVar - STX1B - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21922598[PMID] - - carboxypeptidase A6 - CPA6 - - CPAH - - - gene with protein product - - - - SwissProt - Q8N4T0 - - - IUPHAR - 1592 - - - ClinVar - CPA6 - - - Ensembl - ENSG00000165078 - - - Genatlas - CPA6 - - - HGNC - 17245 - - - OMIM - 609562 - - - - - 8q13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25522171[PMID] - - proline rich transmembrane protein 2 - PRRT2 - - interferon induced transmembrane protein domain containing 1 - dispanin subfamily B member 3 - DKFZp547J199 - DSPB3 - EKD1 - FICCA - FLJ25513 - IFITMD1 - Interferon induced transmembrane protein domain containing 1 - PKC - Paroxysmal kinesigenic dyskinesia - Episodic kinesigenic dyskinesia 1 - - - gene with protein product - - - - Ensembl - ENSG00000167371 - - - Genatlas - PRRT2 - - - HGNC - 30500 - - - OMIM - 614386 - - - SwissProt - Q7Z6L0 - - - ClinVar - PRRT2 - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12402266[PMID] - - adhesion G protein-coupled receptor V1 - ADGRV1 - - DKFZp761P0710 - FEB4 - KIAA0686 - VLGR1 - - - gene with protein product - - - - ClinVar - ADGRV1 - - - Ensembl - ENSG00000164199 - - - Genatlas - ADGRV1 - - - HGNC - 17416 - - - IUPHAR - 189 - - - OMIM - 602851 - - - SwissProt - Q8WXG9 - - - - - 5q14.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 36412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36412 - Hypocomplementemic urticarial vasculitis - - Disease - - - Disorder - - - - 23666765[PMID] - - deoxyribonuclease 1L3 - DNASE1L3 - - DNaseY - LS-DNase - DNAS1L3 - DNase gamma - LSD - D3 - - - gene with protein product - - - - Ensembl - ENSG00000163687 - - - Genatlas - DNASE1L3 - - - HGNC - 2959 - - - OMIM - 602244 - - - SwissProt - Q13609 - - - ClinVar - DNASE1L3 - - - - - 3p14.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 36426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36426 - Stevens-Johnson syndrome - - Clinical subtype - - - Subtype of disorder - - - - - - major histocompatibility complex, class I, B - HLA-B - - - - gene with protein product - - - - ClinVar - HLA-B - - - Ensembl - ENSG00000234745 - - - Genatlas - HLA-B - - - HGNC - 4932 - - - OMIM - 142830 - - - SwissProt - P01889 - - - Reactome - P30486 - - - - - 6p21.33 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - 25672763[PMID] - - IKAROS family zinc finger 1 - IKZF1 - - Hs.54452 - IKAROS - LyF-1 - PPP1R92 - hIk-1 - protein phosphatase 1, regulatory subunit 92 - - - gene with protein product - - - - OMIM - 603023 - - - SwissProt - Q13422 - - - Ensembl - ENSG00000185811 - - - Genatlas - IKZF1 - - - HGNC - 13176 - - - Reactome - Q13422 - - - ClinVar - IKZF1 - - - - - 7p12.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 36355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36355 - Bleeding disorder due to P2Y12 defect - - Disease - - - Disorder - - - - 11196645[PMID]_12578987[PMID] - - purinergic receptor P2Y12 - P2RY12 - - HORK3 - P2Y12 - SP1999 - - - gene with protein product - - - - Ensembl - ENSG00000169313 - - - Genatlas - P2RY12 - - - HGNC - 18124 - - - IUPHAR - 328 - - - OMIM - 600515 - - - Reactome - Q9H244 - - - SwissProt - Q9H244 - - - ClinVar - P2RY12 - - - - - 3q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 36367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36367 - Distal deletion 1q syndrome - - Malformation syndrome - - - Disorder - - - - 28283832[PMID]_24193349[PMID] - - zinc finger and BTB domain containing 18 - ZBTB18 - - C2H2-171 - RP58 - TAZ-1 - - - gene with protein product - - - - Ensembl - ENSG00000179456 - - - Genatlas - ZBTB18 - - - HGNC - 13030 - - - OMIM - 608433 - - - SwissProt - Q99592 - - - ClinVar - ZBTB18 - - - - - 1q44 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 36383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36383 - COL4A1/2-related familial vascular leukoencephalopathy - - Disease - - - Disorder - - - - 23065703[PMID] - - collagen type IV alpha 1 chain - COL4A1 - - - - gene with protein product - - - - ClinVar - COL4A1 - - - Ensembl - ENSG00000187498 - - - Genatlas - COL4A1 - - - HGNC - 2202 - - - OMIM - 120130 - - - Reactome - P02462 - - - SwissProt - P02462 - - - - - 13q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24390199[PMID]_36324412[PMID] - - collagen type IV alpha 2 chain - COL4A2 - - Canstatin - Collagen type IV alpha 2 - DKFZp686I14213 - FLJ22259 - canstatin - - - gene with protein product - - - - Ensembl - ENSG00000134871 - - - Genatlas - COL4A2 - - - HGNC - 2203 - - - OMIM - 120090 - - - Reactome - P08572 - - - SwissProt - P08572 - - - ClinVar - COL4A2 - - - - - 13q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 36386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36386 - Hereditary sensory and autonomic neuropathy type 1 - - Disease - - - Disorder - - - - 21194679[PMID] - - atlastin GTPase 1 - ATL1 - - AD-FSP - FSP1 - atlastin - - - gene with protein product - - - - Reactome - Q8WXF7 - - - Genatlas - ATL1 - - - HGNC - 11231 - - - OMIM - 606439 - - - SwissProt - Q8WXF7 - - - Ensembl - ENSG00000198513 - - - ClinVar - ATL1 - - - - - 14q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11242114[PMID] - - serine palmitoyltransferase long chain base subunit 1 - SPTLC1 - - HSAN1 - LCB1 - SPTI - hLCB1 - - - gene with protein product - - - - IUPHAR - 2509 - - - ClinVar - SPTLC1 - - - Ensembl - ENSG00000090054 - - - Genatlas - SPTLC1 - - - HGNC - 11277 - - - OMIM - 605712 - - - Reactome - O15269 - - - SwissProt - O15269 - - - - - 9q22.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20920666[PMID] - - serine palmitoyltransferase long chain base subunit 2 - SPTLC2 - - KIAA0526 - LCB2 - LCB2A - hLCB2a - - - gene with protein product - - - - Ensembl - ENSG00000100596 - - - Genatlas - SPTLC2 - - - HGNC - 11278 - - - OMIM - 605713 - - - Reactome - O15270 - - - SwissProt - O15270 - - - ClinVar - SPTLC2 - - - IUPHAR - 2510 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24459106[PMID] - - atlastin GTPase 3 - ATL3 - - DKFZP564J0863 - - - gene with protein product - - - - Ensembl - ENSG00000184743 - - - Genatlas - ATL3 - - - HGNC - 24526 - - - OMIM - 609369 - - - ClinVar - ATL3 - - - SwissProt - Q6DD88 - - - - - 11q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 35878 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35878 - Hyperinsulinism-hyperammonemia syndrome - - Disease - - - Disorder - - - - 9571255[PMID]_20936362[PMID]_25733449[PMID] - - glutamate dehydrogenase 1 - GLUD1 - - hGDH1 - GDH - GDH1 - - - gene with protein product - - - - ClinVar - GLUD1 - - - Ensembl - ENSG00000148672 - - - Genatlas - GLUD1 - - - HGNC - 4335 - - - OMIM - 138130 - - - Reactome - P00367 - - - SwissProt - P00367 - - - - - 10q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 35858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35858 - Imerslund-Gräsbeck syndrome - - Disease - - - Disorder - - - - 21750092[PMID]_26040326[PMID] - - amnion associated transmembrane protein - AMN - - amnionless - - - gene with protein product - - - - Ensembl - ENSG00000166126 - - - Genatlas - AMN - - - HGNC - 14604 - - - OMIM - 605799 - - - Reactome - Q9BXJ7 - - - SwissProt - Q9BXJ7 - - - ClinVar - AMN - - - - - 14q32.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 10080186[PMID] - - cubilin - CUBN - - IFCR - gp280 - intrinsic factor-cobalamin receptor - - - gene with protein product - - - - ClinVar - CUBN - - - Ensembl - ENSG00000107611 - - - Genatlas - CUBN - - - HGNC - 2548 - - - OMIM - 602997 - - - Reactome - O60494 - - - SwissProt - O60494 - - - - - 10p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 35909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35909 - Combined deficiency of factor V and factor VIII - - Disease - - - Disorder - - - - 12717434[PMID]_16304051[PMID] - - multiple coagulation factor deficiency 2, ER cargo receptor complex subunit - MCFD2 - - F5F8D - LMAN1IP - SDNSF - - - gene with protein product - - - - Ensembl - ENSG00000180398 - - - Genatlas - MCFD2 - - - HGNC - 18451 - - - OMIM - 607788 - - - Reactome - Q8NI22 - - - SwissProt - Q8NI22 - - - ClinVar - MCFD2 - - - - - 2p21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 9546392[PMID]_16304051[PMID] - - lectin, mannose binding 1 - LMAN1 - - ERGIC-53 - ERGIC53 - FMFD1 - MCFD1 - MR60 - endoplasmic reticulum-golgi intermediate compartment protein 53 - gp58 - - - gene with protein product - - - - ClinVar - LMAN1 - - - HGNC - 6631 - - - OMIM - 601567 - - - Reactome - P49257 - - - SwissProt - P49257 - - - Ensembl - ENSG00000074695 - - - Genatlas - LMAN1 - - - - - 18q21.32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 33572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33572 - 5-oxoprolinase deficiency - - Disease - - - Disorder - - - - 21651516[PMID]_27477828[PMID] - - 5-oxoprolinase, ATP-hydrolysing - OPLAH - - 5-Opase - OPLA - - - gene with protein product - - - - Ensembl - ENSG00000178814 - - - Genatlas - OPLAH - - - HGNC - 8149 - - - OMIM - 614243 - - - Reactome - O14841 - - - SwissProt - O14841 - - - ClinVar - OPLAH - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 33543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33543 - Kleine-Levin syndrome - - Disease - - - Disorder - - - - 33737391[PMID] - - tetratricopeptide repeat and ankyrin repeat containing 1 - TRANK1 - - KIAA0342 - LBA1 - lupus brain antigen 1 - - - gene with protein product - - - - HGNC - 29011 - - - OMIM - 619316 - - - SwissProt - O15050 - - - Ensembl - ENSG00000168016 - - - - - 3p22.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 33445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33445 - Neuroectodermal melanolysosomal disease - - Malformation syndrome - - - Disorder - - - - - - myosin VA - MYO5A - - Unconventional myosin-Va - GS1 - MYO5 - MYR12 - myosin V - myosin heavy chain 12 - myosin, heavy polypeptide kinase - myoxin - - - gene with protein product - - - - OMIM - 160777 - - - Reactome - Q9Y4I1 - - - SwissProt - Q9Y4I1 - - - ClinVar - MYO5A - - - Ensembl - ENSG00000197535 - - - Genatlas - MYO5A - - - HGNC - 7602 - - - - - 15q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 535458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535458 - Familial GPIHBP1 deficiency - - Etiological subtype - - - Subtype of disorder - - - - 25732519[PMID]_29980054[PMID] - - glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 - GPIHBP1 - - GPI-HBP1 - LOC338328 - endothelial cell LPL transporter - - - gene with protein product - - - - Reactome - Q8IV16 - - - ClinVar - GPIHBP1 - - - HGNC - 24945 - - - OMIM - 612757 - - - SwissProt - Q8IV16 - - - Ensembl - ENSG00000277494 - - - Genatlas - GPIHBP1 - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 33402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33402 - Pediatric hepatocellular carcinoma - - Disease - - - Disorder - - - - 9927037[PMID] - - MET proto-oncogene, receptor tyrosine kinase - MET - - DFNB97 - HGFR - RCCP2 - hepatocyte growth factor receptor - - - gene with protein product - - - - Ensembl - ENSG00000105976 - - - Genatlas - MET - - - HGNC - 7029 - - - IUPHAR - 1815 - - - OMIM - 164860 - - - Reactome - P08581 - - - SwissProt - P08581 - - - ClinVar - MET - - - - - 7q31.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 9927029[PMID] - - catenin beta 1 - CTNNB1 - - armadillo - beta-catenin - - - gene with protein product - - - - ClinVar - CTNNB1 - - - Ensembl - ENSG00000168036 - - - Genatlas - CTNNB1 - - - HGNC - 2514 - - - OMIM - 116806 - - - Reactome - P35222 - - - SwissProt - P35222 - - - - - 3p22.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 34217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34217 - Naxos disease - - Disease - - - Disorder - - - - 20301310[PMID] - - junction plakoglobin - JUP - - DP3 - DPIII - PDGB - PKGB - PG - desmosomal protein 3 - - - gene with protein product - - - - HGNC - 6207 - - - OMIM - 173325 - - - Reactome - P14923 - - - SwissProt - P14923 - - - Ensembl - ENSG00000173801 - - - Genatlas - JUP - - - ClinVar - JUP - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 33574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33574 - Glutamate-cysteine ligase deficiency - - Disease - - - Disorder - - - - 10515893[PMID]_18024385[PMID] - - glutamate-cysteine ligase catalytic subunit - GCLC - - GCS - - - gene with protein product - - - - ClinVar - GCLC - - - Ensembl - ENSG00000001084 - - - Genatlas - GCLC - - - HGNC - 4311 - - - OMIM - 606857 - - - Reactome - P48506 - - - SwissProt - P48506 - - - - - 6p12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 33573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33573 - Gamma-glutamyl transpeptidase deficiency - - Disease - - - Disorder - - - - 29483667[PMID] - - gamma-glutamyltransferase 1 - GGT1 - - CD224 - D22S672 - D22S732 - - - gene with protein product - - - - ClinVar - GGT1 - - - HGNC - 4250 - - - Ensembl - ENSG00000100031 - - - SwissProt - P19440 - - - OMIM - 612346 - - - Genatlas - GGT1 - - - Reactome - P19440 - - - - - 22q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 33110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33110 - Autosomal non-syndromic agammaglobulinemia - - Clinical subtype - - - Subtype of disorder - - - - 33951726[PMID] - - Spi-1 proto-oncogene - SPI1 - - SPI-1 - SFPI1 - OF - SPI-A - 31 kDa transforming protein - PU.1 - hematopoietic transcription factor PU.1 - - - gene with protein product - - - - Ensembl - ENSG00000066336 - - - OMIM - 165170 - - - Reactome - P17947 - - - SwissProt - P17947 - - - HGNC - 11241 - - - - - 11p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22351933[PMID] - - phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta - PIK3CD - - p110D - phosphatidylinositol 3-kinase, catalytic, delta polypeptide - phosphoinositide-3-kinase C - - - gene with protein product - - - - OMIM - 602839 - - - Reactome - O00329 - - - SwissProt - O00329 - - - Ensembl - ENSG00000171608 - - - Genatlas - PIK3CD - - - HGNC - 8977 - - - IUPHAR - 2155 - - - ClinVar - PIK3CD - - - - - 1p36.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 8890099[PMID] - - immunoglobulin heavy constant mu - IGHM - - - - gene with protein product - - - - ClinVar - IGHM - - - Ensembl - ENSG00000211899 - - - Genatlas - IGHM - - - HGNC - 5541 - - - OMIM - 147020 - - - Reactome - P01871 - - - SwissProt - P01871 - - - - - 14q32.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 9419212[PMID] - - immunoglobulin lambda like polypeptide 1 - IGLL1 - - 14.1 - CD179B - IGL5 - IGVPB - lambda 5 - - - gene with protein product - - - - ClinVar - IGLL1 - - - Reactome - P15814 - - - Ensembl - ENSG00000128322 - - - Genatlas - IGLL1 - - - HGNC - 5870 - - - OMIM - 146770 - - - SwissProt - P15814 - - - - - 22q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 14660746[PMID] - - leucine rich repeat containing 8 VRAC subunit A - LRRC8A - - FLJ10337 - KIAA1437 - SWELL1 - - - gene with protein product - - - - Reactome - Q8IWT6 - - - ClinVar - LRRC8A - - - Ensembl - ENSG00000136802 - - - Genatlas - LRRC8A - - - HGNC - 19027 - - - OMIM - 608360 - - - SwissProt - Q8IWT6 - - - - - 9q34.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24216514[PMID] - - transcription factor 3 - TCF3 - - E2A - E2A immunoglobulin enhancer-binding factor E12/E47 - E47 - ITF1 - MGC129647 - MGC129648 - VDIR - VDR interacting repressor - bHLHb21 - immunoglobulin transcription factor 1 - kappa-E2-binding factor - transcription factor E2-alpha - p75 - - - gene with protein product - - - - Ensembl - ENSG00000071564 - - - Genatlas - TCF3 - - - HGNC - 11633 - - - OMIM - 147141 - - - Reactome - P15923 - - - SwissProt - P15923 - - - ClinVar - TCF3 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11920841[PMID] - - CD79a molecule - CD79A - - MB1 - MB-1 - IGAlpha - Ig-alpha - B-cell antigen receptor complex-associated protein alpha chain - - - gene with protein product - - - - ClinVar - CD79A - - - Ensembl - ENSG00000105369 - - - Genatlas - CD79A - - - HGNC - 1698 - - - OMIM - 112205 - - - Reactome - P11912 - - - SwissProt - P11912 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17709424[PMID]_17675462[PMID] - - CD79b molecule - CD79B - - B-cell antigen receptor complex-associated protein beta chain - Ig-beta - Igbeta - B29 - - - gene with protein product - - - - IUPHAR - 2852 - - - Ensembl - ENSG00000007312 - - - Genatlas - CD79B - - - HGNC - 1699 - - - OMIM - 147245 - - - Reactome - P40259 - - - SwissProt - P40259 - - - ClinVar - CD79B - - - - - 17q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 10583958[PMID] - - B cell linker - BLNK - - B cell adaptor containing SH2 domain - B-cell activation - B-cell adapter containing a SH2 domain protein - BASH - BLNK-s - Ly57 - SLP-65 - SLP65 - Src homology [SH2] domain-containing leukocyte protein of 65 kD - bca - - - gene with protein product - - - - Ensembl - ENSG00000095585 - - - Genatlas - BLNK - - - HGNC - 14211 - - - OMIM - 604515 - - - Reactome - Q8WV28 - - - SwissProt - Q8WV28 - - - ClinVar - BLNK - - - - - 10q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22351933[PMID] - - phosphoinositide-3-kinase regulatory subunit 1 - PIK3R1 - - GRB1 - p85 - p85-ALPHA - phosphoinositide-3-kinase regulatory subunit alpha - PI3 kinase-associated p85 - growth factor receptor bound 1 - p85alpha - - - gene with protein product - - - - IUPHAR - 2503 - - - Ensembl - ENSG00000145675 - - - Genatlas - PIK3R1 - - - HGNC - 8979 - - - OMIM - 171833 - - - Reactome - P27986 - - - SwissProt - P27986 - - - ClinVar - PIK3R1 - - - - - 5q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 33108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33108 - Lethal multiple pterygium syndrome - - Malformation syndrome - - - Disorder - - - - 28336317[PMID] - - nebulin - NEB - - NEB177D - nemaline myopathy type 2 - - - gene with protein product - - - - OMIM - 161650 - - - Reactome - P20929 - - - SwissProt - P20929 - - - Ensembl - ENSG00000183091 - - - Genatlas - NEB - - - HGNC - 7720 - - - ClinVar - NEB - - - - - 2q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - receptor associated protein of the synapse - RAPSN - - CMS1D - CMS1E - RNF205 - rapsyn - - - gene with protein product - - - - ClinVar - RAPSN - - - HGNC - 9863 - - - OMIM - 601592 - - - SwissProt - Q13702 - - - Ensembl - ENSG00000165917 - - - Genatlas - RAPSN - - - - - 11p11.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 26932181[PMID] - - ryanodine receptor 1 - RYR1 - - PPP1R137 - RYR - protein phosphatase 1, regulatory subunit 137 - - - gene with protein product - - - - ClinVar - RYR1 - - - Ensembl - ENSG00000196218 - - - Genatlas - RYR1 - - - HGNC - 10483 - - - IUPHAR - 747 - - - OMIM - 180901 - - - Reactome - P21817 - - - SwissProt - P21817 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18252226[PMID] - - cholinergic receptor nicotinic alpha 1 subunit - CHRNA1 - - acetylcholine receptor, nicotinic, alpha 1 (muscle) - - - gene with protein product - - - - Ensembl - ENSG00000138435 - - - Genatlas - CHRNA1 - - - HGNC - 1955 - - - IUPHAR - 462 - - - OMIM - 100690 - - - Reactome - P02708 - - - SwissProt - P02708 - - - ClinVar - CHRNA1 - - - - - 2q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18252226[PMID] - - cholinergic receptor nicotinic delta subunit - CHRND - - acetylcholine receptor, nicotinic, delta (muscle) - - - gene with protein product - - - - Ensembl - ENSG00000135902 - - - Genatlas - CHRND - - - HGNC - 1965 - - - IUPHAR - 476 - - - OMIM - 100720 - - - Reactome - Q07001 - - - SwissProt - Q07001 - - - ClinVar - CHRND - - - - - 2q37.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16826531[PMID] - - cholinergic receptor nicotinic gamma subunit - CHRNG - - acetylcholine receptor, nicotinic, gamma (muscle) - - - gene with protein product - - - - Ensembl - ENSG00000196811 - - - Genatlas - CHRNG - - - HGNC - 1967 - - - IUPHAR - 475 - - - OMIM - 100730 - - - Reactome - P07510 - - - SwissProt - P07510 - - - ClinVar - CHRNG - - - - - 2q37.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 33067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33067 - Metaphyseal chondrodysplasia, Jansen type - - Disease - - - Disorder - - - - 7701349[PMID]_8703170[PMID] - - parathyroid hormone 1 receptor - PTH1R - - - - gene with protein product - - - - ClinVar - PTH1R - - - Reactome - Q03431 - - - SwissProt - Q03431 - - - Ensembl - ENSG00000160801 - - - Genatlas - PTH1R - - - HGNC - 9608 - - - IUPHAR - 331 - - - OMIM - 168468 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 33069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33069 - Dravet syndrome - - Disease - - - Disorder - - - - 20301494[PMID]_23093055[PMID]_21463275[PMID]_22787626[PMID]_11359211[PMID]_12754708[PMID]_16458823[PMID] - - sodium voltage-gated channel alpha subunit 1 - SCN1A - - GEFSP2 - HBSCI - NAC1 - Nav1.1 - SMEI - - - gene with protein product - - - - ClinVar - SCN1A - - - Ensembl - ENSG00000144285 - - - Genatlas - SCN1A - - - HGNC - 10585 - - - IUPHAR - 578 - - - OMIM - 182389 - - - Reactome - P35498 - - - SwissProt - P35498 - - - - - 2q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19710327[PMID]_23148524[PMID]_23093055[PMID]_21463275[PMID]_22787626[PMID] - - sodium voltage-gated channel beta subunit 1 - SCN1B - - - - gene with protein product - - - - ClinVar - SCN1B - - - Ensembl - ENSG00000105711 - - - Genatlas - SCN1B - - - HGNC - 10586 - - - OMIM - 600235 - - - Reactome - Q07699 - - - SwissProt - Q07699 - - - - - 19q13.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 19763161[PMID]_23895530[PMID]_21463275[PMID]_18755274[PMID] - - sodium voltage-gated channel alpha subunit 9 - SCN9A - - ETHA - NE-NA - NENA - Nav1.7 - PN1 - - - gene with protein product - - - - ClinVar - SCN9A - - - Ensembl - ENSG00000169432 - - - Genatlas - SCN9A - - - HGNC - 10597 - - - IUPHAR - 584 - - - OMIM - 603415 - - - Reactome - Q15858 - - - SwissProt - Q15858 - - - - - 2q24.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 24623842[PMID] - - gamma-aminobutyric acid type A receptor subunit alpha1 - GABRA1 - - EJM5 - GABA(A) receptor, alpha 1 - - - gene with protein product - - - - ClinVar - GABRA1 - - - OMIM - 137160 - - - Reactome - P14867 - - - SwissProt - P14867 - - - Ensembl - ENSG00000022355 - - - Genatlas - GABRA1 - - - HGNC - 4075 - - - IUPHAR - 404 - - - - - 5q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11748509[PMID]_23093055[PMID]_21463275[PMID]_22787626[PMID] - - gamma-aminobutyric acid type A receptor subunit gamma2 - GABRG2 - - GABA(A) receptor, gamma 2 - - - gene with protein product - - - - ClinVar - GABRG2 - - - Ensembl - ENSG00000113327 - - - Genatlas - GABRG2 - - - HGNC - 4087 - - - IUPHAR - 414 - - - OMIM - 137164 - - - Reactome - P18507 - - - SwissProt - P18507 - - - - - 5q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19214208[PMID]_22848613[PMID]_23808377[PMID]_23093055[PMID]_21463275[PMID] - - protocadherin 19 - PCDH19 - - EIEE9 - KIAA1313 - - - gene with protein product - - - - ClinVar - PCDH19 - - - Ensembl - ENSG00000165194 - - - Genatlas - PCDH19 - - - HGNC - 14270 - - - OMIM - 300460 - - - SwissProt - Q8TAB3 - - - - - Xq22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19783390[PMID] - - sodium voltage-gated channel alpha subunit 2 - SCN2A - - HBSCI - HBSCII - Nav1.2 - - - gene with protein product - - - - ClinVar - SCN2A - - - Ensembl - ENSG00000136531 - - - Genatlas - SCN2A - - - HGNC - 10588 - - - IUPHAR - 579 - - - OMIM - 182390 - - - Reactome - Q99250 - - - SwissProt - Q99250 - - - - - 2q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 33001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33001 - Lymphedema-distichiasis syndrome - - Malformation syndrome - - - Disorder - - - - 12383817[PMID]_20301630[PMID] - - forkhead box C2 - FOXC2 - - MFH-1 - mesenchyme forkhead 1 - - - gene with protein product - - - - Ensembl - ENSG00000176692 - - - Genatlas - FOXC2 - - - HGNC - 3801 - - - OMIM - 602402 - - - SwissProt - Q99958 - - - ClinVar - FOXC2 - - - Reactome - Q99958 - - - - - 16q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 33355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33355 - Reticular dysgenesis - - Disease - - - Disorder - - - - 19043416[PMID] - - adenylate kinase 2 - AK2 - - - - gene with protein product - - - - Ensembl - ENSG00000004455 - - - Genatlas - AK2 - - - HGNC - 362 - - - OMIM - 103020 - - - Reactome - P54819 - - - SwissProt - P54819 - - - ClinVar - AK2 - - - - - 1p35.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 535453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535453 - Familial lipase maturation factor 1 deficiency - - Etiological subtype - - - Subtype of disorder - - - - 25732519[PMID]_29980054[PMID] - - lipase maturation factor 1 - LMF1 - - FLJ12681 - FLJ22302 - JFP11 - TMEM112A - - - gene with protein product - - - - ClinVar - LMF1 - - - Ensembl - ENSG00000103227 - - - Genatlas - LMF1 - - - HGNC - 14154 - - - OMIM - 611761 - - - Reactome - Q96S06 - - - SwissProt - Q96S06 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 33364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33364 - Trichothiodystrophy - - Disease - - - Disorder - - - - - - M-phase specific PLK1 interacting protein - MPLKIP - - ORF20 - TTDN1 - tricothiodystrophy, non-photosensitive 1 - - - gene with protein product - - - - Ensembl - ENSG00000168303 - - - Genatlas - C7orf11 - - - HGNC - 16002 - - - OMIM - 609188 - - - SwissProt - Q8TAP9 - - - ClinVar - C7orf11 - - - - - 7p14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12393803[PMID] - - ERCC excision repair 2, TFIIH core complex helicase subunit - ERCC2 - - EM9 - MAG - MGC102762 - MGC126218 - MGC126219 - TFIIH - TFIIH basal transcription factor complex helicase XPB subunit - excision repair cross-complementing rodent repair deficiency, complementation group 2 protein - - - gene with protein product - - - - ClinVar - ERCC2 - - - Ensembl - ENSG00000104884 - - - Genatlas - ERCC2 - - - HGNC - 3434 - - - OMIM - 126340 - - - Reactome - P18074 - - - SwissProt - P18074 - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12393803[PMID] - - general transcription factor IIH subunit 5 - GTF2H5 - - DNA repair syndrome trichothiodystrophy group A - FLJ30544 - TFB5 - TFIIH - TTD-A - TTDA - bA120J8.2 - - - gene with protein product - - - - ClinVar - GTF2H5 - - - Ensembl - ENSG00000272047 - - - Genatlas - GTF2H5 - - - HGNC - 21157 - - - OMIM - 608780 - - - Reactome - Q6ZYL4 - - - SwissProt - Q6ZYL4 - - - - - 6q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12393803[PMID] - - ERCC excision repair 3, TFIIH core complex helicase subunit - ERCC3 - - BTF2 - GTF2H - RAD25 - TFIIH - XPB - xeroderma pigmentosum group B complementing - Ssl2 - - - gene with protein product - - - - Ensembl - ENSG00000163161 - - - Genatlas - ERCC3 - - - HGNC - 3435 - - - OMIM - 133510 - - - Reactome - P19447 - - - SwissProt - P19447 - - - ClinVar - ERCC3 - - - - - 2q14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25612912[PMID] - - ring finger protein 113A - RNF113A - - Cwc24 - RNF113 - - - gene with protein product - - - - Ensembl - ENSG00000125352 - - - Genatlas - RNF113A - - - HGNC - 12974 - - - OMIM - 300951 - - - SwissProt - O15541 - - - ClinVar - RNF113A - - - - - Xq24 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26996949[PMID] - - general transcription factor IIE subunit 2 - GTF2E2 - - FE - TF2E2 - TFIIE beta subunit - TFIIE-B - Transcription initiation factor IIE subunit beta - - - gene with protein product - - - - ClinVar - GTF2E2 - - - HGNC - 4651 - - - OMIM - 189964 - - - Genatlas - GTF2E2 - - - SwissProt - P29084 - - - Reactome - P29084 - - - Ensembl - ENSG00000197265 - - - - - 8p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31374204[PMID] - - threonyl-tRNA synthetase 1 - TARS1 - - threonine tRNA ligase 1, cytoplasmic - - - gene with protein product - - - - HGNC - 11572 - - - Ensembl - ENSG00000113407 - - - SwissProt - P26639 - - - Reactome - P26639 - - - OMIM - 187790 - - - - - 5p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30824121[PMID] - - cysteinyl-tRNA synthetase 1 - CARS1 - - cysteine tRNA ligase 1, cytoplasmic - CARS1 - Cysteine tRNA ligase 1, cytoplasmic - - - gene with protein product - - - - Ensembl - ENSG00000110619 - - - Genatlas - CARS - - - HGNC - 1493 - - - OMIM - 123859 - - - Reactome - P49589 - - - SwissProt - P49589 - - - ClinVar - CARS - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33909043[PMID] - - alanyl-tRNA synthetase 1 - AARS1 - - AlaRS - CMT2N - alanine tRNA ligase 1, cytoplasmic - - - gene with protein product - - - - Ensembl - ENSG00000090861 - - - Genatlas - AARS - - - HGNC - 20 - - - OMIM - 601065 - - - Reactome - P49588 - - - SwissProt - P49588 - - - ClinVar - AARS - - - - - 16q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 33226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33226 - Waldenström macroglobulinemia - - Disease - - - Disorder - - - - 23321251[PMID]_23532735[PMID] - - MYD88 innate immune signal transduction adaptor - MYD88 - - TLR adaptor MYD88 - - - gene with protein product - - - - ClinVar - MYD88 - - - Ensembl - ENSG00000172936 - - - Genatlas - MYD88 - - - HGNC - 7562 - - - OMIM - 602170 - - - Reactome - Q99836 - - - SwissProt - Q99836 - - - - - 3p22.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 35069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35069 - Infantile neuroaxonal dystrophy - - Disease - - - Disorder - - - - - - phospholipase A2 group VI - PLA2G6 - - NBIA2 - Neurodegeneration with brain iron accumulation 2 - PARK14 - PNPLA9 - iPLA2 - iPLA2beta - neurodegeneration with brain iron accumulation 2 - - - gene with protein product - - - - IUPHAR - 1431 - - - Genatlas - PLA2G6 - - - HGNC - 9039 - - - OMIM - 603604 - - - Reactome - O60733 - - - SwissProt - O60733 - - - Ensembl - ENSG00000184381 - - - ClinVar - PLA2G6 - - - - - 22q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 35093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35093 - Non-syndromic sagittal craniosynostosis - - Morphological anomaly - - - Disorder - - - - 22829454[PMID] - - ALX homeobox 4 - ALX4 - - FPP - KIAA1788 - PFM - - - gene with protein product - - - - Ensembl - ENSG00000052850 - - - Genatlas - ALX4 - - - HGNC - 450 - - - OMIM - 605420 - - - SwissProt - Q9H161 - - - ClinVar - ALX4 - - - - - 11p11.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 17343269[PMID] - - twist family bHLH transcription factor 1 - TWIST1 - - SCS - Saethre-Chotzen syndrome - bHLHa38 - BPES2 - CRS1 - H-twist - - - gene with protein product - - - - ClinVar - TWIST1 - - - Reactome - Q15672 - - - HGNC - 12428 - - - OMIM - 601622 - - - SwissProt - Q15672 - - - Ensembl - ENSG00000122691 - - - Genatlas - TWIST1 - - - - - 7p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 35078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35078 - T-B+ severe combined immunodeficiency due to JAK3 deficiency - - Disease - - - Disorder - - - - - - Janus kinase 3 - JAK3 - - JAK-3 - JAK3_HUMAN - JAKL - L-JAK - LJAK - leukocyte Janus kinase - tyrosine-protein kinase JAK3 - - - gene with protein product - - - - Ensembl - ENSG00000105639 - - - Genatlas - JAK3 - - - HGNC - 6193 - - - IUPHAR - 2049 - - - OMIM - 600173 - - - Reactome - P52333 - - - SwissProt - P52333 - - - ClinVar - JAK3 - - - - - 19p13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 34520 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34520 - Congenital muscular dystrophy with integrin alpha-7 deficiency - - Disease - - - Disorder - - - - 9590299[PMID] - - integrin subunit alpha 7 - ITGA7 - - - - gene with protein product - - - - Ensembl - ENSG00000135424 - - - Genatlas - ITGA7 - - - HGNC - 6143 - - - OMIM - 600536 - - - Reactome - Q13683 - - - SwissProt - Q13683 - - - ClinVar - ITGA7 - - - IUPHAR - 2446 - - - - - 12q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 34514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34514 - Telethonin-related limb-girdle muscular dystrophy R7 - - Disease - - - Disorder - - - - 20301582[PMID] - - titin-cap - TCAP - - 19 kDa sarcomeric protein - CMD1N - T-cap - TELE - telethonin - teneurin C-terminal associated peptide - - - gene with protein product - - - - Ensembl - ENSG00000173991 - - - Genatlas - TCAP - - - HGNC - 11610 - - - OMIM - 604488 - - - Reactome - O15273 - - - SwissProt - O15273 - - - ClinVar - TCAP - - - - - 17q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 34515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34515 - FKRP-related limb-girdle muscular dystrophy R9 - - Disease - - - Disorder - - - - 20301582[PMID] - - fukutin related protein - FKRP - - LGMD2I - MDC1C - Ribitol 5-phosphate transferase - FKTR - - - gene with protein product - - - - ClinVar - FKRP - - - OMIM - 606596 - - - SwissProt - Q9H9S5 - - - Ensembl - ENSG00000181027 - - - Genatlas - FKRP - - - HGNC - 17997 - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 34516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34516 - DNAJB6-related limb-girdle muscular dystrophy D1 - - Disease - - - Disorder - - - - 22366786[PMID]_22334415[PMID] - - DnaJ heat shock protein family (Hsp40) member B6 - DNAJB6 - - MRJ - - - gene with protein product - - - - Ensembl - ENSG00000105993 - - - Genatlas - DNAJB6 - - - HGNC - 14888 - - - OMIM - 611332 - - - Reactome - O75190 - - - SwissProt - O75190 - - - ClinVar - DNAJB6 - - - - - 7q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 34587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34587 - Danon disease - - Disease - - - Disorder - - - - - - lysosomal associated membrane protein 2 - LAMP2 - - CD107b - - - gene with protein product - - - - ClinVar - LAMP2 - - - Ensembl - ENSG00000005893 - - - Genatlas - LAMP2 - - - HGNC - 6501 - - - OMIM - 309060 - - - Reactome - P13473 - - - SwissProt - P13473 - - - - - Xq24 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 34592 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34592 - Immunodeficiency by defective expression of MHC class I - - Disease - - - Disorder - - - - 10560675[PMID] - - transporter 2, ATP binding cassette subfamily B member - TAP2 - - D6S217E - PSF2 - RING11 - - - gene with protein product - - - - IUPHAR - 770 - - - Ensembl - ENSG00000204267 - - - Genatlas - TAP2 - - - HGNC - 44 - - - OMIM - 170261 - - - Reactome - Q03519 - - - SwissProt - Q03519 - - - ClinVar - TAP2 - - - - - 6p21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 10074494[PMID] - - transporter 1, ATP binding cassette subfamily B member - TAP1 - - D6S114E - PSF1 - RING4 - - - gene with protein product - - - - Ensembl - ENSG00000168394 - - - Genatlas - TAP1 - - - HGNC - 43 - - - OMIM - 170260 - - - Reactome - Q03518 - - - SwissProt - Q03518 - - - IUPHAR - 769 - - - ClinVar - TAP1 - - - - - 6p21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12149238[PMID] - - TAP binding protein - TAPBP - - TAPA - TPSN - TPN - tapasin - NGS17 - - - gene with protein product - - - - OMIM - 601962 - - - Reactome - O15533 - - - SwissProt - O15533 - - - Ensembl - ENSG00000231925 - - - Genatlas - TAPBP - - - HGNC - 11566 - - - ClinVar - TAPBP - - - - - 6p21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25702838[PMID] - - beta-2-microglobulin - B2M - - - - gene with protein product - - - - Ensembl - ENSG00000166710 - - - Genatlas - B2M - - - HGNC - 914 - - - OMIM - 109700 - - - Reactome - P61769 - - - SwissProt - P61769 - - - ClinVar - B2M - - - - - 15q21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 34528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34528 - Autosomal dominant primary hypomagnesemia with hypocalciuria - - Disease - - - Disorder - - - - 17980699[PMID] - - FXYD domain containing ion transport regulator 2 - FXYD2 - - MGC12372 - - - gene with protein product - - - - ClinVar - FXYD2 - - - Ensembl - ENSG00000137731 - - - Genatlas - FXYD2 - - - HGNC - 4026 - - - IUPHAR - 2610 - - - OMIM - 601814 - - - Reactome - P54710 - - - SwissProt - P54710 - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 536516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536516 - Myopathic Ehlers-Danlos syndrome - - Disease - - - Disorder - - - - 28306229[PMID]_28306225[PMID] - - collagen type XII alpha 1 chain - COL12A1 - - collagen type XII proteoglycan - - - gene with protein product - - - - Ensembl - ENSG00000111799 - - - Genatlas - COL12A1 - - - HGNC - 2188 - - - OMIM - 120320 - - - Reactome - Q99715 - - - SwissProt - Q99715 - - - ClinVar - COL12A1 - - - - - 6q13-q14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 536467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536467 - B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - Subtype of disorder - - - - 23664117[PMID] - - beta-1,3-galactosyltransferase 6 - B3GALT6 - - beta-1,3-galactosyltransferase-6 - beta3GalT6 - - - gene with protein product - - - - ClinVar - B3GALT6 - - - Ensembl - ENSG00000176022 - - - Genatlas - B3GALT6 - - - HGNC - 17978 - - - OMIM - 615291 - - - Reactome - Q96L58 - - - SwissProt - Q96L58 - - - - - 1p36.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 536532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536532 - Classical-like Ehlers-Danlos syndrome type 2 - - Disease - - - Disorder - - - - 30759870[PMID] - - AE binding protein 1 - AEBP1 - - ACLP - aortic carboxypeptidase-like protein - adipocyte enhancer binding protein 1 - - - gene with protein product - - - - OMIM - 602981 - - - Ensembl - ENSG00000106624 - - - SwissProt - Q8IUX7 - - - IUPHAR - 1586 - - - HGNC - 303 - - - - - 7p13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 537072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=537072 - PLG-related hereditary angioedema with normal C1Inh - - Clinical subtype - - - Subtype of disorder - - - - 28795768[PMID] - - plasminogen - PLG - - - - gene with protein product - - - - Reactome - P00747 - - - SwissProt - P00747 - - - Ensembl - ENSG00000122194 - - - Genatlas - PLG - - - HGNC - 9071 - - - IUPHAR - 2394 - - - OMIM - 173350 - - - ClinVar - PLG - - - - - 6q26 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 32960 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32960 - Tumor necrosis factor receptor 1 associated periodic syndrome - - Disease - - - Disorder - - - - 22059991[PMID] - - TNF receptor superfamily member 1A - TNFRSF1A - - CD120a - TNF-R - TNF-R-I - TNF-R55 - TNFAR - TNFR60 - - - gene with protein product - - - - IUPHAR - 1870 - - - Ensembl - ENSG00000067182 - - - Genatlas - TNFRSF1A - - - HGNC - 11916 - - - OMIM - 191190 - - - Reactome - P19438 - - - SwissProt - P19438 - - - ClinVar - TNFRSF1A - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 52530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52530 - Pseudo-von Willebrand disease - - Disease - - - Disorder - - - - 2052556[PMID] - - glycoprotein Ib platelet subunit alpha - GP1BA - - CD42b - GPIbalpha - platelet glycoprotein Ib alpha chain - - - gene with protein product - - - - ClinVar - GP1BA - - - Ensembl - ENSG00000185245 - - - Genatlas - GP1BA - - - HGNC - 4439 - - - OMIM - 606672 - - - Reactome - P07359 - - - SwissProt - P07359 - - - - - 17p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 52688 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52688 - Myelodysplastic syndrome - - Clinical group - - - Group of disorders - - - - 32747829[PMID] - - tumor protein p53 - TP53 - - LFS1 - Li-Fraumeni syndrome - P53 - p53 - - - gene with protein product - - - - Ensembl - ENSG00000141510 - - - Genatlas - TP53 - - - HGNC - 11998 - - - OMIM - 191170 - - - Reactome - P04637 - - - SwissProt - P04637 - - - ClinVar - TP53 - - - - - 17p13.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 52429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52429 - Branchiootic syndrome - - Malformation syndrome - - - Disorder - - - - 9359046[PMID]_23840632[PMID] - - EYA transcriptional coactivator and phosphatase 1 - EYA1 - - - - gene with protein product - - - - ClinVar - EYA1 - - - Ensembl - ENSG00000104313 - - - Genatlas - EYA1 - - - HGNC - 3519 - - - OMIM - 601653 - - - Reactome - Q99502 - - - SwissProt - Q99502 - - - - - 8q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15141091[PMID] - - SIX homeobox 1 - SIX1 - - - - gene with protein product - - - - Genatlas - SIX1 - - - HGNC - 10887 - - - OMIM - 601205 - - - SwissProt - Q15475 - - - Reactome - Q15475 - - - Ensembl - ENSG00000126778 - - - ClinVar - SIX1 - - - - - 14q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 52503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52503 - X-linked creatine transporter deficiency - - Disease - - - Disorder - - - - 20301745[PMID] - - solute carrier family 6 member 8 - SLC6A8 - - CRTR - CT1 - creatine transporter - CRT - CRT-1 - Sodium- and chloride-dependent creatine transporter 1 - CRT1 - - - gene with protein product - - - - Ensembl - ENSG00000130821 - - - Genatlas - SLC6A8 - - - IUPHAR - 934 - - - ClinVar - SLC6A8 - - - HGNC - 11055 - - - OMIM - 300036 - - - Reactome - P48029 - - - SwissProt - P48029 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 52430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52430 - Inclusion body myopathy with Paget disease of bone and frontotemporal dementia - - Disease - - - Disorder - - - - 15034582[PMID]_20301649[PMID] - - valosin containing protein - VCP - - CDC48 - p97 - IBMPFD - TERA - transitional endoplasmic reticulum ATPase - - - gene with protein product - - - - ClinVar - VCP - - - Ensembl - ENSG00000165280 - - - Genatlas - VCP - - - HGNC - 12666 - - - OMIM - 601023 - - - Reactome - P55072 - - - SwissProt - P55072 - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23455423[PMID] - - heterogeneous nuclear ribonucleoprotein A2/B1 - HNRNPA2B1 - - HNRNPB1 - HNRNPA2 - - - gene with protein product - - - - ClinVar - HNRNPA2B1 - - - HGNC - 5033 - - - OMIM - 600124 - - - Reactome - P22626 - - - SwissProt - P22626 - - - Ensembl - ENSG00000122566 - - - Genatlas - HNRNPA2B1 - - - - - 7p15.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23455423[PMID] - - heterogeneous nuclear ribonucleoprotein A1 - HNRNPA1 - - ALS20 - hnRNP-A1 - hnRNPA1 - - - gene with protein product - - - - ClinVar - HNRNPA1 - - - Ensembl - ENSG00000135486 - - - Genatlas - HNRNPA1 - - - HGNC - 5031 - - - OMIM - 164017 - - - Reactome - P09651 - - - SwissProt - P09651 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 52416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52416 - Mantle cell lymphoma - - Disease - - - Disorder - - - - - - cyclin D1 - CCND1 - - B-cell CLL/lymphoma 1 - G1/S-specific cyclin D1 - U21B31 - parathyroid adenomatosis 1 - - - gene with protein product - - - - Ensembl - ENSG00000110092 - - - Genatlas - CCND1 - - - HGNC - 1582 - - - OMIM - 168461 - - - Reactome - P24385 - - - SwissProt - P24385 - - - ClinVar - CCND1 - - - - - 11q13.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 10706620[PMID] - - ATM serine/threonine kinase - ATM - - TEL1 - TEL1, telomere maintenance 1, homolog (S. cerevisiae) - TELO1 - - - gene with protein product - - - - ClinVar - ATM - - - SwissProt - Q13315 - - - Ensembl - ENSG00000149311 - - - Genatlas - ATM - - - HGNC - 795 - - - IUPHAR - 1934 - - - OMIM - 607585 - - - Reactome - Q13315 - - - - - 11q22.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 12601901[PMID]_11245476[PMID] - - immunoglobulin heavy locus - IGH - - - - gene with protein product - - - - OMIM - 146910 - - - OMIM - 147010 - - - ClinVar - IGH@ - - - Ensembl - - - - OMIM - 147070 - - - Genatlas - IGH@ - - - HGNC - 5477 - - - SwissProt - Q6P089 - - - - - 14q32.33 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 52427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52427 - Retinitis punctata albescens - - Disease - - - Disorder - - - - 8485575[PMID] - - peripherin 2 - PRPH2 - - CACD2 - TSPAN22 - rd2 - retinal peripherin - tetraspanin-22 - choroidal dystrophy, central areolar 2 - - - gene with protein product - - - - ClinVar - PRPH2 - - - Ensembl - ENSG00000112619 - - - Genatlas - PRPH2 - - - HGNC - 9942 - - - OMIM - 179605 - - - SwissProt - P23942 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - retinol dehydrogenase 5 - RDH5 - - HSD17B9 - SDR9C5 - short chain dehydrogenase/reductase family 9C, member 5 - - - gene with protein product - - - - ClinVar - RDH5 - - - Ensembl - ENSG00000135437 - - - Genatlas - RDH5 - - - HGNC - 9940 - - - OMIM - 601617 - - - Reactome - Q92781 - - - SwissProt - Q92781 - - - - - 12q13.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 8554077[PMID] - - rhodopsin - RHO - - CSNBAD1 - OPN2 - opsin 2, rod pigment - - - gene with protein product - - - - ClinVar - RHO - - - Ensembl - ENSG00000163914 - - - Genatlas - RHO - - - HGNC - 10012 - - - OMIM - 180380 - - - Reactome - P08100 - - - SwissProt - P08100 - - - IUPHAR - 2963 - - - - - 3q22.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 10102299[PMID]_15234312[PMID]_15953459[PMID] - - retinaldehyde binding protein 1 - RLBP1 - - CRALBP - - - gene with protein product - - - - Ensembl - ENSG00000140522 - - - Genatlas - RLBP1 - - - HGNC - 10024 - - - OMIM - 180090 - - - Reactome - P12271 - - - SwissProt - P12271 - - - IUPHAR - 2545 - - - ClinVar - RLBP1 - - - - - 15q26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 52417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52417 - MALT lymphoma - - Disease - - - Disorder - - - - - - MALT1 paracaspase - MALT1 - - MALT1 protease - PCASP1 - paracaspase 1 - - - gene with protein product - - - - Ensembl - ENSG00000172175 - - - Genatlas - MALT1 - - - HGNC - 6819 - - - OMIM - 604860 - - - Reactome - Q9UDY8 - - - SwissProt - Q9UDY8 - - - ClinVar - MALT1 - - - IUPHAR - 2983 - - - - - 18q21.32 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - baculoviral IAP repeat containing 3 - BIRC3 - - MIHC - RNF49 - TNFR2-TRAF signaling complex protein - apoptosis inhibitor 2 - c-IAP2 - cIAP2 - hiap-1 - inhibitor of apoptosis protein 1 - mammalian IAP homolog C - MALT2 - - - gene with protein product - - - - IUPHAR - 2792 - - - SwissProt - Q13489 - - - Ensembl - ENSG00000023445 - - - Genatlas - BIRC3 - - - HGNC - 591 - - - OMIM - 601721 - - - Reactome - Q13489 - - - ClinVar - BIRC3 - - - - - 11q22.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 15703784[PMID] - - immunoglobulin heavy locus - IGH - - - - gene with protein product - - - - OMIM - 146910 - - - OMIM - 147010 - - - ClinVar - IGH@ - - - Ensembl - - - - OMIM - 147070 - - - Genatlas - IGH@ - - - HGNC - 5477 - - - SwissProt - Q6P089 - - - - - 14q32.33 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 15703784[PMID] - - forkhead box P1 - FOXP1 - - 12CC4 - HSPC215 - PAX5/FOXP1 fusion protein - QRF1 - fork head-related protein like B - glutamine-rich factor 1 - hFKH1B - - - gene with protein product - - - - ClinVar - FOXP1 - - - Reactome - Q9H334 - - - Ensembl - ENSG00000114861 - - - Genatlas - FOXP1 - - - HGNC - 3823 - - - OMIM - 605515 - - - SwissProt - Q9H334 - - - - - 3p13 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 25922601[PMID]_10319863[PMID] - - BCL10 immune signaling adaptor - BCL10 - - CARD containing molecule enhancing NF-kB - CARD-containing apoptotic signaling protein - CARD-containing proapoptotic protein - CARD-like apoptotic protein - CARMEN - CIPER - CLAP - c-E10 - caspase-recruiting domain-containing protein - mE10 - - - gene with protein product - - - - Ensembl - ENSG00000142867 - - - Genatlas - BCL10 - - - HGNC - 989 - - - OMIM - 603517 - - - Reactome - O95999 - - - SwissProt - O95999 - - - ClinVar - BCL10 - - - - - 1p22.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 52055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52055 - Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome - - Malformation syndrome - - - Disorder - - - - 14556245[PMID] - - immunoglobulin binding protein 1 - IGBP1 - - alpha 4 - a4 - α4 - - - gene with protein product - - - - ClinVar - IGBP1 - - - Reactome - P78318 - - - Ensembl - ENSG00000089289 - - - Genatlas - IGBP1 - - - HGNC - 5461 - - - OMIM - 300139 - - - SwissProt - P78318 - - - - - Xq13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 52368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52368 - Mohr-Tranebjaerg syndrome - - Disease - - - Disorder - - - - 20301395[PMID]_11956200[PMID] - - translocase of inner mitochondrial membrane 8A - TIMM8A - - DDP - MTS - - - gene with protein product - - - - ClinVar - TIMM8A - - - Ensembl - ENSG00000126953 - - - Genatlas - TIMM8A - - - HGNC - 11817 - - - OMIM - 300356 - - - Reactome - O60220 - - - SwissProt - O60220 - - - - - Xq22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 53271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53271 - Muenke syndrome - - Malformation syndrome - - - Disorder - - - - 20301588[PMID]_20301628[PMID]_21438135[PMID] - - fibroblast growth factor receptor 3 - FGFR3 - - CD333 - CEK2 - JTK4 - - - gene with protein product - - - - Ensembl - ENSG00000068078 - - - Genatlas - FGFR3 - - - HGNC - 3690 - - - IUPHAR - 1810 - - - OMIM - 134934 - - - Reactome - P22607 - - - SwissProt - P22607 - - - ClinVar - FGFR3 - - - - - 4p16.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 53347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53347 - Brody myopathy - - Disease - - - Disorder - - - - 10914677[PMID] - - ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 - ATP2A1 - - SERCA1 - calcium pump 1 - sarcoplasmic/endoplasmic reticulum calcium ATPase 1 - - - gene with protein product - - - - Ensembl - ENSG00000196296 - - - Genatlas - ATP2A1 - - - HGNC - 811 - - - OMIM - 108730 - - - Reactome - O14983 - - - SwissProt - O14983 - - - ClinVar - ATP2A1 - - - IUPHAR - 840 - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 53035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53035 - Caroli disease - - Malformation syndrome - - - Disorder - - - - 24710345[PMID]_26385851[PMID] - - PKHD1 ciliary IPT domain containing fibrocystin/polyductin - PKHD1 - - ARPKD - FCYT - fibrocystin - polyductin - tigmin - FPC - fibrocystin/polyductin complex - - - gene with protein product - - - - ClinVar - PKHD1 - - - OMIM - 606702 - - - SwissProt - P08F94 - - - Ensembl - ENSG00000170927 - - - Genatlas - PKHD1 - - - HGNC - 9016 - - - - - 6p12.3-p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 52901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52901 - Isolated follicle stimulating hormone deficiency - - Disease - - - Disorder - - - - 15705395[PMID] - - follicle stimulating hormone subunit beta - FSHB - - follitropin, beta chain - - - gene with protein product - - - - Ensembl - ENSG00000131808 - - - Genatlas - FSHB - - - ClinVar - FSHB - - - HGNC - 3964 - - - OMIM - 136530 - - - Reactome - P01225 - - - SwissProt - P01225 - - - - - 11p14.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 53690 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53690 - Congenital lactase deficiency - - Disease - - - Disorder - - - - 16400612[PMID] - - lactase - LCT - - - - gene with protein product - - - - Ensembl - ENSG00000115850 - - - Genatlas - LCT - - - HGNC - 6530 - - - OMIM - 603202 - - - Reactome - P09848 - - - SwissProt - P09848 - - - ClinVar - LCT - - - - - 2q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 53689 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53689 - Congenital chloride diarrhea - - Disease - - - Disorder - - - - 11524734[PMID]_21394828[PMID] - - solute carrier family 26 member 3 - SLC26A3 - - Chloride anion exchanger - - - gene with protein product - - - - Ensembl - ENSG00000091138 - - - Genatlas - SLC26A3 - - - HGNC - 3018 - - - OMIM - 126650 - - - Reactome - P40879 - - - SwissProt - P40879 - - - ClinVar - SLC26A3 - - - IUPHAR - 1099 - - - - - 7q22.3-q31.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 538863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538863 - Classic pyoderma gangrenosum - - Clinical subtype - - - Subtype of disorder - - - - 21406173[PMID] - - protein tyrosine phosphatase non-receptor type 6 - PTPN6 - - PTP-1C - SHP1 - SHP-1 - HCP - HCPH - - - gene with protein product - - - - HGNC - 9658 - - - Ensembl - ENSG00000111679 - - - OMIM - 176883 - - - SwissProt - P29350 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 538574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538574 - Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome - - Disease - - - Disorder - - - - 27639257[PMID] - - keratin 1 - KRT1 - - KRT1A - - - gene with protein product - - - - Ensembl - ENSG00000167768 - - - Genatlas - KRT1 - - - HGNC - 6412 - - - OMIM - 139350 - - - SwissProt - P04264 - - - ClinVar - KRT1 - - - Reactome - P04264 - - - - - 12q13.13 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 27639257[PMID] - - myelin protein zero - MPZ - - CMT2I - CMT2J - HMSNIB - P0 - - - gene with protein product - - - - ClinVar - MPZ - - - Ensembl - ENSG00000158887 - - - Genatlas - MPZ - - - HGNC - 7225 - - - OMIM - 159440 - - - SwissProt - P25189 - - - - - 1q23.3 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - - - 53583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53583 - Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity - - Disease - - - Disorder - - - - 21832227[PMID] - - solute carrier family 2 member 1 - SLC2A1 - - DYT18 - DYT9 - GLUT-1 - dystonia gene 18 - dystonia gene 9 - - - gene with protein product - - - - ClinVar - SLC2A1 - - - IUPHAR - 875 - - - Ensembl - ENSG00000117394 - - - Genatlas - SLC2A1 - - - HGNC - 11005 - - - OMIM - 138140 - - - Reactome - P11166 - - - SwissProt - P11166 - - - - - 1p34.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 53540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53540 - Goldmann-Favre syndrome - - Disease - - - Disorder - - - - 10655056[PMID] - - nuclear receptor subfamily 2 group E member 3 - NR2E3 - - PNR - RP37 - rd7 - - - gene with protein product - - - - ClinVar - NR2E3 - - - Ensembl - ENSG00000278570 - - - Genatlas - NR2E3 - - - HGNC - 7974 - - - IUPHAR - 616 - - - OMIM - 604485 - - - Reactome - Q9Y5X4 - - - SwissProt - Q9Y5X4 - - - - - 15q23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 53351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53351 - X-linked dystonia-parkinsonism - - Disease - - - Disorder - - - - - - TATA-box binding protein associated factor 1 - TAF1 - - DYT3/TAF1 - KAT4 - NSCL2 - TAFII250 - - - gene with protein product - - - - ClinVar - TAF1 - - - Genatlas - TAF1 - - - HGNC - 11535 - - - IUPHAR - 2231 - - - OMIM - 313650 - - - Reactome - P21675 - - - SwissProt - P21675 - - - Ensembl - ENSG00000147133 - - - - - Xq13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 54260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54260 - Left ventricular noncompaction - - Disease - - - Disorder - - - - 26464484[PMID] - - pleckstrin homology and RUN domain containing M2 - PLEKHM2 - - KIAA0842 - - - gene with protein product - - - - HGNC - 29131 - - - Ensembl - ENSG00000116786 - - - SwissProt - Q8IWE5 - - - OMIM - 609613 - - - - - 1p36.21 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 20083571[PMID] - - troponin T2, cardiac type - TNNT2 - - CMPD2 - - - gene with protein product - - - - Ensembl - ENSG00000118194 - - - Genatlas - TNNT2 - - - HGNC - 11949 - - - OMIM - 191045 - - - Reactome - P45379 - - - SwissProt - P45379 - - - ClinVar - TNNT2 - - - - - 1q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27030002[PMID] - - plakophilin 2 - PKP2 - - - - gene with protein product - - - - ClinVar - PKP2 - - - Ensembl - ENSG00000057294 - - - Genatlas - PKP2 - - - HGNC - 9024 - - - OMIM - 602861 - - - SwissProt - Q99959 - - - Reactome - Q99959 - - - - - 12p11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17611253[PMID]_18506004[PMID] - - actin alpha cardiac muscle 1 - ACTC1 - - CMD1R - - - gene with protein product - - - - ClinVar - ACTC1 - - - Ensembl - ENSG00000159251 - - - Genatlas - ACTC1 - - - HGNC - 143 - - - OMIM - 102540 - - - Reactome - P68032 - - - SwissProt - P68032 - - - - - 15q14 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 37657916[PMID] - - T-box transcription factor 20 - TBX20 - - - - gene with protein product - - - - Ensembl - ENSG00000164532 - - - Genatlas - TBX20 - - - HGNC - 11598 - - - OMIM - 606061 - - - SwissProt - Q9UMR3 - - - ClinVar - TBX20 - - - - - 7p14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21551322[PMID] - - tropomyosin 1 - TPM1 - - - - gene with protein product - - - - Ensembl - ENSG00000140416 - - - Genatlas - TPM1 - - - HGNC - 12010 - - - OMIM - 191010 - - - Reactome - P09493 - - - SwissProt - P09493 - - - ClinVar - TPM1 - - - - - 15q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11238270[PMID] - - dystrobrevin alpha - DTNA - - D18S892E - DRP3 - DTN - DTN-1 - DTN-2 - DTN-3 - dystrophin-related protein 3 - - - gene with protein product - - - - ClinVar - DTNA - - - Ensembl - ENSG00000134769 - - - Genatlas - DTNA - - - HGNC - 3057 - - - OMIM - 601239 - - - SwissProt - Q9Y4J8 - - - Reactome - Q9Y4J8 - - - - - 18q12.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 21551322[PMID] - - myosin binding protein C3 - MYBPC3 - - FHC - MYBP-C - cMyBP-C - - - gene with protein product - - - - IUPHAR - 2880 - - - ClinVar - MYBPC3 - - - Ensembl - ENSG00000134571 - - - Genatlas - MYBPC3 - - - HGNC - 7551 - - - OMIM - 600958 - - - Reactome - Q14896 - - - SwissProt - Q14896 - - - - - 11p11.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 25415959[PMID] - - myosin heavy chain 7 - MYH7 - - CMD1S - - - gene with protein product - - - - ClinVar - MYH7 - - - OMIM - 160760 - - - Reactome - P12883 - - - SwissProt - P12883 - - - Ensembl - ENSG00000092054 - - - Genatlas - MYH7 - - - HGNC - 7577 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - LIM domain binding 3 - LDB3 - - KIAA0613 - PDLIM6 - Z-band alternatively spliced PDZ motif protein - ZASP - cypher - oracle - - - gene with protein product - - - - Ensembl - ENSG00000122367 - - - Genatlas - LDB3 - - - HGNC - 15710 - - - OMIM - 605906 - - - SwissProt - O75112 - - - ClinVar - LDB3 - - - - - 10q23.2 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - lamin A/C - LMNA - - HGPS - MADA - mandibuloacral dysplasia type A - progerin - - - gene with protein product - - - - ClinVar - LMNA - - - Ensembl - ENSG00000160789 - - - Genatlas - LMNA - - - HGNC - 6636 - - - OMIM - 150330 - - - Reactome - P02545 - - - SwissProt - P02545 - - - - - 1q22 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - 23314057[PMID] - - MIB E3 ubiquitin protein ligase 1 - MIB1 - - DIP-1 - KIAA1323 - MIB - ZZANK2 - ZZZ6 - DAPK-interacting protein 1 - - - gene with protein product - - - - Ensembl - ENSG00000101752 - - - Genatlas - MIB1 - - - HGNC - 21086 - - - OMIM - 608677 - - - Reactome - Q86YT6 - - - SwissProt - Q86YT6 - - - ClinVar - MIB1 - - - - - 18q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23768516[PMID] - - PR/SET domain 16 - PRDM16 - - KIAA1675 - MDS1/EVI1-like - MEL1 - MGC166915 - PFM13 - PR-domain zinc finger protein 16 - Transcription factor MEL1 - KMT8F - transcription factor MEL1 - - - gene with protein product - - - - Ensembl - ENSG00000142611 - - - Genatlas - PRDM16 - - - HGNC - 14000 - - - OMIM - 605557 - - - Reactome - Q9HAZ2 - - - SwissProt - Q9HAZ2 - - - ClinVar - PRDM16 - - - - - 1p36.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23800289[PMID] - - myosin heavy chain 7B - MYH7B - - lncMYH7b - KIAA1512 - MHC14 - MYH14 - dJ756N5.1 - - - gene with protein product - - - - Ensembl - ENSG00000078814 - - - Genatlas - MYH7B - - - HGNC - 15906 - - - OMIM - 609928 - - - Reactome - A7E2Y1 - - - SwissProt - A7E2Y1 - - - ClinVar - MYH7B - - - - - 20q11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28013292[PMID] - - MIB E3 ubiquitin protein ligase 2 - MIB2 - - FLJ39787 - skeletrophin - ZZZ5 - - - gene with protein product - - - - HGNC - 30577 - - - Ensembl - ENSG00000197530 - - - SwissProt - Q96AX9 - - - OMIM - 611141 - - - Genatlas - MIB2 - - - Reactome - Q96AX9 - - - ClinVar - MIB2 - - - - - 1p36.33 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 538934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538934 - X-linked lymphoproliferative disease due to XIAP deficiency - - Disease - - - Disorder - - - - 20301580[PMID] - - X-linked inhibitor of apoptosis - XIAP - - hILP - IAP-like protein 1 - ILP-1 - - - gene with protein product - - - - ClinVar - XIAP - - - IUPHAR - 2790 - - - Ensembl - ENSG00000101966 - - - Genatlas - XIAP - - - HGNC - 592 - - - OMIM - 300079 - - - Reactome - P98170 - - - SwissProt - P98170 - - - - - Xq25 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 538931 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538931 - X-linked lymphoproliferative disease due to SAP deficiency - - Disease - - - Disorder - - - - 20301580[PMID]_28196537[PMID] - - SH2 domain containing 1A - SH2D1A - - DSHP - Duncan's disease - EBVS - MTCP1 - SAP - XLP - XLPD - - - gene with protein product - - - - ClinVar - SH2D1A - - - Ensembl - ENSG00000183918 - - - Genatlas - SH2D1A - - - HGNC - 10820 - - - OMIM - 300490 - - - Reactome - O60880 - - - SwissProt - O60880 - - - - - Xq25 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 53696 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53696 - Arthrogryposis-anterior horn cell disease syndrome - - Malformation syndrome - - - Disorder - - - - 18204449[PMID] - - GLE1 RNA export mediator - GLE1 - - hGLE1 - - - gene with protein product - - - - Ensembl - ENSG00000119392 - - - Genatlas - GLE1 - - - HGNC - 4315 - - - OMIM - 603371 - - - SwissProt - Q53GS7 - - - Reactome - Q53GS7 - - - ClinVar - GLE1 - - - - - 9q34.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 538872 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538872 - Vegetative pyoderma gangrenosum - - Clinical subtype - - - Subtype of disorder - - - - 21406173[PMID] - - protein tyrosine phosphatase non-receptor type 6 - PTPN6 - - PTP-1C - SHP1 - SHP-1 - HCP - HCPH - - - gene with protein product - - - - HGNC - 9658 - - - Ensembl - ENSG00000111679 - - - OMIM - 176883 - - - SwissProt - P29350 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 53697 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53697 - Gnathodiaphyseal dysplasia - - Malformation syndrome - - - Disorder - - - - 23047743[PMID] - - anoctamin 5 - ANO5 - - GDD1 - - - gene with protein product - - - - Ensembl - ENSG00000171714 - - - Genatlas - ANO5 - - - HGNC - 27337 - - - OMIM - 608662 - - - Reactome - Q75V66 - - - SwissProt - Q75V66 - - - ClinVar - ANO5 - - - - - 11p14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 53691 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53691 - Congenital cornea plana - - Morphological anomaly - - - Disorder - - - - 10802664[PMID] - - keratocan - KERA - - SLRR2B - keratocan proteoglycan - - - gene with protein product - - - - Ensembl - ENSG00000139330 - - - Genatlas - KERA - - - HGNC - 6309 - - - OMIM - 603288 - - - Reactome - O60938 - - - SwissProt - O60938 - - - ClinVar - KERA - - - - - 12q21.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 538869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538869 - Bullous pyoderma gangrenosum - - Clinical subtype - - - Subtype of disorder - - - - 21406173[PMID] - - protein tyrosine phosphatase non-receptor type 6 - PTPN6 - - PTP-1C - SHP1 - SHP-1 - HCP - HCPH - - - gene with protein product - - - - HGNC - 9658 - - - Ensembl - ENSG00000111679 - - - OMIM - 176883 - - - SwissProt - P29350 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 538866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538866 - Pustular pyoderma gangrenosum - - Clinical subtype - - - Subtype of disorder - - - - 21406173[PMID] - - protein tyrosine phosphatase non-receptor type 6 - PTPN6 - - PTP-1C - SHP1 - SHP-1 - HCP - HCPH - - - gene with protein product - - - - HGNC - 9658 - - - Ensembl - ENSG00000111679 - - - OMIM - 176883 - - - SwissProt - P29350 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 53693 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53693 - GRACILE syndrome - - Disease - - - Disorder - - - - 12215968[PMID] - - BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone - BCS1L - - BCS - BJS - Bjornstad syndrome - GRACILE syndrome - Hs.6719 - h-BCS - - - gene with protein product - - - - Ensembl - ENSG00000074582 - - - Genatlas - BCS1L - - - HGNC - 1020 - - - OMIM - 603647 - - - Reactome - Q9Y276 - - - SwissProt - Q9Y276 - - - ClinVar - BCS1L - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 48818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818 - Aceruloplasminemia - - Disease - - - Disorder - - - - 20301666[PMID] - - ceruloplasmin - CP - - caeruloplasmin - ferroxidase - AB073614 - - - gene with protein product - - - - ClinVar - CP - - - Ensembl - ENSG00000047457 - - - Genatlas - CP - - - HGNC - 2295 - - - OMIM - 117700 - - - Reactome - P00450 - - - SwissProt - P00450 - - - - - 3q24-q25.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 49382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49382 - Achromatopsia - - Disease - - - Disorder - - - - 19615668[PMID] - - phosphodiesterase 6C - PDE6C - - ACHM5 - COD4 - PDEA2 - Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha - - - gene with protein product - - - - Ensembl - ENSG00000095464 - - - Genatlas - PDE6C - - - HGNC - 8787 - - - OMIM - 600827 - - - SwissProt - P51160 - - - ClinVar - PDE6C - - - IUPHAR - 1314 - - - - - 10q23.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - retinitis pigmentosa GTPase regulator - RPGR - - CORDX1 - - - gene with protein product - - - - Reactome - Q92834 - - - Ensembl - ENSG00000156313 - - - Genatlas - RPGR - - - HGNC - 10295 - - - OMIM - 312610 - - - SwissProt - Q92834 - - - ClinVar - RPGR - - - - - Xp11.4 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - cyclic nucleotide gated channel subunit alpha 3 - CNGA3 - - CCNC1 - CCNCa - CNG3 - - - gene with protein product - - - - ClinVar - CNGA3 - - - Ensembl - ENSG00000144191 - - - Genatlas - CNGA3 - - - HGNC - 2150 - - - IUPHAR - 396 - - - OMIM - 600053 - - - SwissProt - Q16281 - - - - - 2q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - cyclic nucleotide gated channel subunit beta 3 - CNGB3 - - - - gene with protein product - - - - ClinVar - CNGB3 - - - Ensembl - ENSG00000170289 - - - Genatlas - CNGB3 - - - HGNC - 2153 - - - IUPHAR - 399 - - - OMIM - 605080 - - - SwissProt - Q9NQW8 - - - - - 8q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - phosphodiesterase 6H - PDE6H - - retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma - - - gene with protein product - - - - Ensembl - ENSG00000139053 - - - Genatlas - PDE6H - - - HGNC - 8790 - - - OMIM - 601190 - - - SwissProt - Q13956 - - - IUPHAR - 1317 - - - ClinVar - PDE6H - - - - - 12p12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12077706[PMID] - - G protein subunit alpha transducin 2 - GNAT2 - - ACHM4 - - - gene with protein product - - - - ClinVar - GNAT2 - - - Ensembl - ENSG00000134183 - - - Genatlas - GNAT2 - - - HGNC - 4394 - - - OMIM - 139340 - - - Reactome - P19087 - - - SwissProt - P19087 - - - - - 1p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26029869[PMID]_26063662[PMID] - - activating transcription factor 6 - ATF6 - - ATF6A - activating transcription factor 6 alpha - ATP6alpha - - - gene with protein product - - - - Ensembl - ENSG00000118217 - - - Genatlas - ATF6 - - - HGNC - 791 - - - OMIM - 605537 - - - Reactome - P18850 - - - SwissProt - P18850 - - - ClinVar - ATF6 - - - - - 1q23.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 538958 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538958 - Combined immunodeficiency due to CD70 deficiency - - Disease - - - Disorder - - - - 28011863[PMID]_28011864[PMID]_29434583[PMID] - - CD70 molecule - CD70 - - CD70 antigen - CD27-L - CD27L - CD27 ligand - - - gene with protein product - - - - HGNC - 11937 - - - Reactome - P32970 - - - Ensembl - ENSG00000125726 - - - SwissProt - P32970 - - - OMIM - 602840 - - - ClinVar - CD70 - - - Genatlas - CD70 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 48431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431 - Congenital cataracts-facial dysmorphism-neuropathy syndrome - - Malformation syndrome - - - Disorder - - - - 20301787[PMID] - - CTD phosphatase subunit 1 - CTDP1 - - FCP1 - - - gene with protein product - - - - ClinVar - CTDP1 - - - Ensembl - ENSG00000060069 - - - Genatlas - CTDP1 - - - HGNC - 2498 - - - OMIM - 604927 - - - Reactome - Q9Y5B0 - - - SwissProt - Q9Y5B0 - - - - - 18q23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 538963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538963 - Combined immunodeficiency due to ITK deficiency - - Disease - - - Disorder - - - - 19425169[PMID] - - IL2 inducible T cell kinase - ITK - - EMT - LYK - PSCTK2 - - - gene with protein product - - - - SwissProt - Q08881 - - - Ensembl - ENSG00000113263 - - - Genatlas - ITK - - - HGNC - 6171 - - - IUPHAR - 2046 - - - OMIM - 186973 - - - Reactome - Q08881 - - - ClinVar - ITK - - - - - 5q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 50814 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50814 - Craniolenticulosutural dysplasia - - Malformation syndrome - - - Disorder - - - - 16980979[PMID] - - SEC23 homolog A, COPII coat complex component - SEC23A - - - - gene with protein product - - - - ClinVar - SEC23A - - - Ensembl - ENSG00000100934 - - - Genatlas - SEC23A - - - HGNC - 10701 - - - OMIM - 610511 - - - Reactome - Q15436 - - - SwissProt - Q15436 - - - - - 14q21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 49827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49827 - Thiamine-responsive megaloblastic anemia syndrome - - Disease - - - Disorder - - - - - - solute carrier family 19 member 2 - SLC19A2 - - ThT1 - Thiamine transporter 1 - THTR1 - thiamine-responsive megaloblastic anaemia - - - gene with protein product - - - - Ensembl - ENSG00000117479 - - - Genatlas - SLC19A2 - - - HGNC - 10938 - - - OMIM - 603941 - - - Reactome - O60779 - - - SwissProt - O60779 - - - ClinVar - SLC19A2 - - - IUPHAR - 1015 - - - - - 1q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 50251 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50251 - Pleural mesothelioma - - Disease - - - Disorder - - - - 27181379[PMID] - - BRCA1 associated deubiquitinase 1 - BAP1 - - KIAA0272 - UCHL2 - hucep-6 - ubiquitin carboxy-terminal hydrolase L2 - - - gene with protein product - - - - Reactome - Q92560 - - - Ensembl - ENSG00000163930 - - - Genatlas - BAP1 - - - HGNC - 950 - - - IUPHAR - 2332 - - - OMIM - 603089 - - - SwissProt - Q92560 - - - ClinVar - BAP1 - - - - - 3p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 50945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50945 - Blomstrand lethal chondrodysplasia - - Malformation syndrome - - - Disorder - - - - 9832466[PMID]_9745456[PMID]_9649554[PMID] - - parathyroid hormone 1 receptor - PTH1R - - - - gene with protein product - - - - ClinVar - PTH1R - - - Reactome - Q03431 - - - SwissProt - Q03431 - - - Ensembl - ENSG00000160801 - - - Genatlas - PTH1R - - - HGNC - 9608 - - - IUPHAR - 331 - - - OMIM - 168468 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 50944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50944 - Schöpf-Schulz-Passarge syndrome - - Disease - - - Disorder - - - - 19559398[PMID] - - Wnt family member 10A - WNT10A - - - - gene with protein product - - - - ClinVar - WNT10A - - - HGNC - 13829 - - - OMIM - 606268 - - - Reactome - Q9GZT5 - - - SwissProt - Q9GZT5 - - - Ensembl - ENSG00000135925 - - - Genatlas - WNT10A - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 51083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51083 - Congenital short QT syndrome - - Disease - - - Disorder - - - - 29167417[PMID] - - solute carrier family 4 member 3 - SLC4A3 - - AE3 - SLC2C - Anion exchanger 3, neuronal - - - gene with protein product - - - - HGNC - 11029 - - - Ensembl - ENSG00000114923 - - - SwissProt - P48751 - - - Reactome - P48751 - - - IUPHAR - 906 - - - OMIM - 106195 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 15761194[PMID] - - potassium inwardly rectifying channel subfamily J member 2 - KCNJ2 - - IRK1 - Kir2.1 - LQT7 - - - gene with protein product - - - - Ensembl - ENSG00000123700 - - - Genatlas - KCNJ2 - - - HGNC - 6263 - - - IUPHAR - 430 - - - OMIM - 600681 - - - Reactome - P63252 - - - SwissProt - P63252 - - - ClinVar - KCNJ2 - - - - - 17q24.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 15828882[PMID] - - potassium voltage-gated channel subfamily H member 2 - KCNH2 - - HERG - Kv11.1 - erg1 - human ether-a-go-go-related gene - long QT syndrome type 2 - - - gene with protein product - - - - Ensembl - ENSG00000055118 - - - Genatlas - KCNH2 - - - HGNC - 6251 - - - IUPHAR - 572 - - - OMIM - 152427 - - - Reactome - Q12809 - - - SwissProt - Q12809 - - - ClinVar - KCNH2 - - - - - 7q36.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 15159330[PMID]_26346102[PMID] - - potassium voltage-gated channel subfamily Q member 1 - KCNQ1 - - JLNS1 - Jervell and Lange-Nielsen syndrome 1 - KCNA8 - KVLQT1 - Kv7.1 - LQT1 - - - gene with protein product - - - - Ensembl - ENSG00000053918 - - - Genatlas - KCNQ1 - - - HGNC - 6294 - - - IUPHAR - 560 - - - OMIM - 607542 - - - Reactome - P51787 - - - SwissProt - P51787 - - - ClinVar - KCNQ1 - - - - - 11p15.5-p15.4 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 21383000[PMID] - - calcium voltage-gated channel auxiliary subunit alpha2delta 1 - CACNA2D1 - - alpha2delta-1 - lncRNA-N3 - - - gene with protein product - - - - Ensembl - ENSG00000153956 - - - Genatlas - CACNA2D1 - - - HGNC - 1399 - - - OMIM - 114204 - - - Reactome - P54289 - - - SwissProt - P54289 - - - ClinVar - CACNA2D1 - - - - - 7q21.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 50943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50943 - Keratolytic winter erythema - - Disease - - - Disorder - - - - 28457472[PMID] - - cathepsin B - CTSB - - - - gene with protein product - - - - ClinVar - CTSB - - - HGNC - 2527 - - - Ensembl - ENSG00000164733 - - - SwissProt - P07858 - - - OMIM - 116810 - - - Genatlas - CTSB - - - Reactome - P07858 - - - IUPHAR - 2343 - - - - - 8p23.1 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 50942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50942 - Striate palmoplantar keratoderma - - Disease - - - Disorder - - - - 9887343[PMID] - - desmoplakin - DSP - - DPI - DPII - KPPS2 - PPKS2 - - - gene with protein product - - - - ClinVar - DSP - - - Ensembl - ENSG00000096696 - - - Genatlas - DSP - - - HGNC - 3052 - - - OMIM - 125647 - - - Reactome - P15924 - - - SwissProt - P15924 - - - - - 6p24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11982762[PMID] - - keratin 1 - KRT1 - - KRT1A - - - gene with protein product - - - - Ensembl - ENSG00000167768 - - - Genatlas - KRT1 - - - HGNC - 6412 - - - OMIM - 139350 - - - SwissProt - P04264 - - - ClinVar - KRT1 - - - Reactome - P04264 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 10332028[PMID]_19157795[PMID] - - desmoglein 1 - DSG1 - - CDHF4 - - - gene with protein product - - - - ClinVar - DSG1 - - - Ensembl - ENSG00000134760 - - - Genatlas - DSG1 - - - HGNC - 3048 - - - OMIM - 125670 - - - Reactome - Q02413 - - - SwissProt - Q02413 - - - - - 18q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 52022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52022 - Potocki-Shaffer syndrome - - Malformation syndrome - - - Disorder - - - - 15852040[PMID] - - ALX homeobox 4 - ALX4 - - FPP - KIAA1788 - PFM - - - gene with protein product - - - - Ensembl - ENSG00000052850 - - - Genatlas - ALX4 - - - HGNC - 450 - - - OMIM - 605420 - - - SwissProt - Q9H161 - - - ClinVar - ALX4 - - - - - 11p11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 15852040[PMID] - - exostosin glycosyltransferase 2 - EXT2 - - Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase - N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase - SOTV - - - gene with protein product - - - - ClinVar - EXT2 - - - Ensembl - ENSG00000151348 - - - Genatlas - EXT2 - - - HGNC - 3513 - - - OMIM - 608210 - - - Reactome - Q93063 - - - SwissProt - Q93063 - - - - - 11p11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 22770980[PMID] - - PHD finger protein 21A - PHF21A - - BHC80 - BM-006 - KIAA1696 - - - gene with protein product - - - - ClinVar - PHF21A - - - HGNC - 24156 - - - OMIM - 608325 - - - Reactome - Q96BD5 - - - SwissProt - Q96BD5 - - - Ensembl - ENSG00000135365 - - - Genatlas - PHF21A - - - - - 11p11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 51608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51608 - Generalized arterial calcification of infancy - - Disease - - - Disorder - - - - 25392903[PMID]_22209248[PMID] - - ATP binding cassette subfamily C member 6 - ABCC6 - - EST349056 - MLP1 - MRP6 - URG7 - - - gene with protein product - - - - IUPHAR - 784 - - - ClinVar - ABCC6 - - - Ensembl - ENSG00000091262 - - - Genatlas - ABCC6 - - - HGNC - 57 - - - OMIM - 603234 - - - Reactome - O95255 - - - SwissProt - O95255 - - - - - 16p13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25392903[PMID] - - ectonucleotide pyrophosphatase/phosphodiesterase 1 - ENPP1 - - PC-1 - PCA1 - - - gene with protein product - - - - Ensembl - ENSG00000197594 - - - Genatlas - ENPP1 - - - HGNC - 3356 - - - OMIM - 173335 - - - Reactome - P22413 - - - SwissProt - P22413 - - - ClinVar - ENPP1 - - - - - 6q23.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 51188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51188 - Ethylmalonic encephalopathy - - Disease - - - Disorder - - - - 18593870[PMID] - - ETHE1 persulfide dioxygenase - ETHE1 - - HSCO - YF13H12 - - - gene with protein product - - - - Ensembl - ENSG00000105755 - - - Genatlas - ETHE1 - - - HGNC - 23287 - - - OMIM - 608451 - - - Reactome - O95571 - - - SwissProt - O95571 - - - ClinVar - ETHE1 - - - - - 19q13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 541423 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541423 - Growth delay-intellectual disability-hepatopathy syndrome - - Disease - - - Disorder - - - - 27426735[PMID]_29052218[PMID] - - isoleucyl-tRNA synthetase 1 - IARS1 - - IARS1 - ILRS - isoleucine tRNA ligase 1, cytoplasmic - - - gene with protein product - - - - Genatlas - IARS - - - ClinVar - IARS - - - HGNC - 5330 - - - OMIM - 600709 - - - SwissProt - P41252 - - - Reactome - P41252 - - - Ensembl - ENSG00000196305 - - - - - 9q22.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 51208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51208 - Formiminoglutamic aciduria - - Disease - - - Disorder - - - - 12815595[PMID] - - formimidoyltransferase cyclodeaminase - FTCD - - - - gene with protein product - - - - ClinVar - FTCD - - - Ensembl - ENSG00000160282 - - - Genatlas - FTCD - - - HGNC - 3974 - - - OMIM - 606806 - - - Reactome - O95954 - - - SwissProt - O95954 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 51636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51636 - WHIM syndrome - - Disease - - - Disorder - - - - 12692554[PMID] - - C-X-C motif chemokine receptor 4 - CXCR4 - - CD184 - D2S201E - HM89 - HSY3RR - LESTR - NPY3R - NPYR - NPYY3R - fusin - - - gene with protein product - - - - Ensembl - ENSG00000121966 - - - Genatlas - CXCR4 - - - HGNC - 2561 - - - IUPHAR - 71 - - - OMIM - 162643 - - - Reactome - P61073 - - - SwissProt - P61073 - - - ClinVar - CXCR4 - - - - - 2q22.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 542306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542306 - GNB5-related intellectual disability-cardiac arrhythmia syndrome - - Disease - - - Disorder - - - - 27523599[PMID]_30631341[PMID] - - G protein subunit beta 5 - GNB5 - - GB5 - Guanine nucleotide-binding protein subunit beta-5 - Transducin beta chain 5 - - - gene with protein product - - - - HGNC - 4401 - - - OMIM - 604447 - - - Ensembl - ENSG00000069966 - - - SwissProt - O14775 - - - Reactome - O14775 - - - - - 15q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 542301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542301 - Combined immunodeficiency due to CARMIL2 deficiency - - Disease - - - Disorder - - - - 29226302[PMID]_27896283[PMID] - - capping protein regulator and myosin 1 linker 2 - CARMIL2 - - leucine rich repeat containing 16C - RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein - LRRC16C - - - gene with protein product - - - - SwissProt - Q6F5E8 - - - Ensembl - ENSG00000159753 - - - HGNC - 27089 - - - OMIM - 610859 - - - - - 16q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 542310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542310 - Leukoencephalopathy with calcifications and cysts - - Disease - - - Disorder - - - - 28177126[PMID]_27571260[PMID] - - small nucleolar RNA, C/D box 118 - SNORD118 - - U8 - - - Non-coding RNA - - - - HGNC - 32952 - - - Ensembl - ENSG00000200463 - - - OMIM - 616663 - - - SwissProt - - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 42665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42665 - Tietz syndrome - - Malformation syndrome - - - Disorder - - - - 10851256[PMID] - - melanocyte inducing transcription factor - MITF - - MI - bHLHe32 - homolog of mouse microphthalmia - - - gene with protein product - - - - Ensembl - ENSG00000187098 - - - Genatlas - MITF - - - HGNC - 7105 - - - OMIM - 156845 - - - Reactome - O75030 - - - SwissProt - O75030 - - - ClinVar - MITF - - - - - 3p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 542585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542585 - Auditory neuropathy-optic atrophy syndrome - - Disease - - - Disorder - - - - 28965846[PMID] - - ferredoxin reductase - FDXR - - adrenodoxin-NADP(+) reductase - adrenodoxin reductase - ADR - Ferredoxin--NADP(+) reductase - AR - - - gene with protein product - - - - Ensembl - ENSG00000161513 - - - SwissProt - P22570 - - - Reactome - P22570 - - - HGNC - 3642 - - - OMIM - 103270 - - - - - 17q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 43115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43115 - Hereditary myopathy with lactic acidosis due to ISCU deficiency - - Disease - - - Disorder - - - - 20301757[PMID] - - iron-sulfur cluster assembly enzyme - ISCU - - ISU2 - IscU - hnifU - - - gene with protein product - - - - Ensembl - ENSG00000136003 - - - Genatlas - ISCU - - - HGNC - 29882 - - - OMIM - 611911 - - - Reactome - Q9H1K1 - - - SwissProt - Q9H1K1 - - - ClinVar - ISCU - - - - - 12q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 45448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45448 - Miyoshi myopathy - - Disease - - - Disorder - - - - 18853459[PMID] - - dysferlin - DYSF - - FER1L1 - fer-1-like family member 1 - - - gene with protein product - - - - Ensembl - ENSG00000135636 - - - Genatlas - DYSF - - - HGNC - 3097 - - - OMIM - 603009 - - - Reactome - O75923 - - - SwissProt - O75923 - - - ClinVar - DYSF - - - - - 2p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 543470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543470 - Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome - - Disease - - - Disorder - - - - 29040572[PMID] - - ferredoxin reductase - FDXR - - adrenodoxin-NADP(+) reductase - adrenodoxin reductase - ADR - Ferredoxin--NADP(+) reductase - AR - - - gene with protein product - - - - Ensembl - ENSG00000161513 - - - SwissProt - P22570 - - - Reactome - P22570 - - - HGNC - 3642 - - - OMIM - 103270 - - - - - 17q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 542657 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542657 - Isolated hyperchlorhidrosis - - Disease - - - Disorder - - - - 21035102[PMID] - - carbonic anhydrase 12 - CA12 - - HsT18816 - - - gene with protein product - - - - HGNC - 1371 - - - Ensembl - ENSG00000074410 - - - SwissProt - O43570 - - - Reactome - O43570 - - - IUPHAR - 2747 - - - OMIM - 603263 - - - - - 15q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 44890 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44890 - Gastrointestinal stromal tumor - - Disease - - - Disorder - - - - 33737510[PMID] - - platelet derived growth factor receptor alpha - PDGFRA - - CD140a - GAS9 - PDGFR2 - - - gene with protein product - - - - Ensembl - ENSG00000134853 - - - Genatlas - PDGFRA - - - HGNC - 8803 - - - IUPHAR - 1803 - - - OMIM - 173490 - - - Reactome - P16234 - - - SwissProt - P16234 - - - ClinVar - PDGFRA - - - - - 4q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23730622[PMID]_23282968[PMID]_21505157[PMID]_21997697[PMID] - - succinate dehydrogenase complex flavoprotein subunit A - SDHA - - FP - SDHF - flavoprotein subunit of complex II - succinate dehydrogenase [ubiquinone] flavoprotein subunit - - - gene with protein product - - - - ClinVar - SDHA - - - Ensembl - ENSG00000073578 - - - Genatlas - SDHA - - - HGNC - 10680 - - - OMIM - 600857 - - - Reactome - P31040 - - - SwissProt - P31040 - - - - - 5p15.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 21173220[PMID] - - succinate dehydrogenase complex iron sulfur subunit B - SDHB - - iron-sulfur subunit of complex II - succinate dehydrogenase [ubiquinone] iron-sulfur subunit - - - gene with protein product - - - - ClinVar - SDHB - - - Reactome - P21912 - - - SwissProt - P21912 - - - Ensembl - ENSG00000117118 - - - Genatlas - SDHB - - - HGNC - 10681 - - - OMIM - 185470 - - - - - 1p36.13 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 21173220[PMID] - - succinate dehydrogenase complex subunit C - SDHC - - CYB560 - cybL - large subunit of cytochrome b - succinate dehydrgenase cytochrome b - succinate dehydrogenase cytochrome b560 subunit - - - gene with protein product - - - - ClinVar - SDHC - - - Ensembl - ENSG00000143252 - - - Genatlas - SDHC - - - HGNC - 10682 - - - OMIM - 602413 - - - Reactome - Q99643 - - - SwissProt - Q99643 - - - - - 1q23.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 23730622[PMID] - - KIT proto-oncogene, receptor tyrosine kinase - KIT - - C-Kit - CD117 - SCFR - mast/stem cell growth factor receptor Kit - - - gene with protein product - - - - ClinVar - KIT - - - Ensembl - ENSG00000157404 - - - Genatlas - KIT - - - HGNC - 6342 - - - IUPHAR - 1805 - - - OMIM - 164920 - - - Reactome - P10721 - - - SwissProt - P10721 - - - - - 4q12 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 11073817[PMID] - - KIT proto-oncogene, receptor tyrosine kinase - KIT - - C-Kit - CD117 - SCFR - mast/stem cell growth factor receptor Kit - - - gene with protein product - - - - ClinVar - KIT - - - Ensembl - ENSG00000157404 - - - Genatlas - KIT - - - HGNC - 6342 - - - IUPHAR - 1805 - - - OMIM - 164920 - - - Reactome - P10721 - - - SwissProt - P10721 - - - - - 4q12 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 23730622[PMID] - - platelet derived growth factor receptor alpha - PDGFRA - - CD140a - GAS9 - PDGFR2 - - - gene with protein product - - - - Ensembl - ENSG00000134853 - - - Genatlas - PDGFRA - - - HGNC - 8803 - - - IUPHAR - 1803 - - - OMIM - 173490 - - - Reactome - P16234 - - - SwissProt - P16234 - - - ClinVar - PDGFRA - - - - - 4q12 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 45358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45358 - Congenital fibrosis of extraocular muscles - - Disease - - - Disorder - - - - 25500261[PMID] - - collagen type XXV alpha 1 chain - COL25A1 - - - - gene with protein product - - - - ClinVar - COL25A1 - - - Genatlas - COL25A1 - - - HGNC - 18603 - - - OMIM - 610004 - - - Reactome - Q9BXS0 - - - SwissProt - Q9BXS0 - - - Ensembl - ENSG00000188517 - - - - - 4q25 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33649541[PMID] - - tubulin alpha 1a - TUBA1A - - B-ALPHA-1 - FLJ25113 - TUBA3 - Tubulin, alpha, brain-specific - tubulin, alpha, brain-specific - - - gene with protein product - - - - ClinVar - TUBA1A - - - Ensembl - ENSG00000167552 - - - Genatlas - TUBA1A - - - HGNC - 20766 - - - IUPHAR - 2638 - - - OMIM - 602529 - - - Reactome - Q71U36 - - - SwissProt - Q71U36 - - - - - 12q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301522[PMID] - - paired like homeobox 2A - PHOX2A - - CFEOM2 - PMX2A - - - gene with protein product - - - - Ensembl - ENSG00000165462 - - - Genatlas - PHOX2A - - - HGNC - 691 - - - OMIM - 602753 - - - SwissProt - O14813 - - - ClinVar - PHOX2A - - - - - 11q13.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301522[PMID] - - kinesin family member 21A - KIF21A - - FLJ20052 - - - gene with protein product - - - - Reactome - Q7Z4S6 - - - ClinVar - KIF21A - - - Ensembl - ENSG00000139116 - - - Genatlas - KIF21A - - - HGNC - 19349 - - - OMIM - 608283 - - - SwissProt - Q7Z4S6 - - - - - 12q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301522[PMID] - - tubulin beta 3 class III - TUBB3 - - CFEOM3 - CFEOM3A - beta-4 - class III beta-tubulin - - - gene with protein product - - - - Ensembl - ENSG00000258947 - - - Genatlas - TUBB3 - - - HGNC - 20772 - - - IUPHAR - 2752 - - - OMIM - 602661 - - - Reactome - Q13509 - - - SwissProt - Q13509 - - - ClinVar - TUBB3 - - - - - 16q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23001566[PMID] - - tubulin beta 2B class IIb - TUBB2B - - DKFZp566F223 - MGC8685 - bA506K6.1 - class IIb beta-tubulin - - - gene with protein product - - - - Ensembl - ENSG00000137285 - - - Genatlas - TUBB2B - - - HGNC - 30829 - - - OMIM - 612850 - - - Reactome - Q9BVA1 - - - SwissProt - Q9BVA1 - - - ClinVar - TUBB2B - - - - - 6p25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 544254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544254 - SYNGAP1-related developmental and epileptic encephalopathy - - Disease - - - Disorder - - - - 30541864[PMID] - - synaptic Ras GTPase activating protein 1 - SYNGAP1 - - KIAA1938 - RASA5 - SYNGAP - - - gene with protein product - - - - Ensembl - ENSG00000197283 - - - Genatlas - SYNGAP1 - - - HGNC - 11497 - - - OMIM - 603384 - - - Reactome - Q96PV0 - - - SwissProt - Q96PV0 - - - ClinVar - SYNGAP1 - - - - - 6p21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 46348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46348 - Paroxysmal extreme pain disorder - - Disease - - - Disorder - - - - - - sodium voltage-gated channel alpha subunit 10 - SCN10A - - Nav1.8 - PN3 - SNS - hPN3 - peripheral nerve sodium channel 3 - sensory neuron sodium channel - - - gene with protein product - - - - Ensembl - ENSG00000185313 - - - Genatlas - SCN10A - - - HGNC - 10582 - - - IUPHAR - 585 - - - OMIM - 604427 - - - Reactome - Q9Y5Y9 - - - SwissProt - Q9Y5Y9 - - - ClinVar - SCN10A - - - - - 3p22.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - sodium voltage-gated channel alpha subunit 11 - SCN11A - - NaN - Nav1.9 - SNS-2 - - - gene with protein product - - - - Ensembl - ENSG00000168356 - - - Genatlas - SCN11A - - - HGNC - 10583 - - - IUPHAR - 586 - - - OMIM - 604385 - - - Reactome - Q9UI33 - - - SwissProt - Q9UI33 - - - ClinVar - SCN11A - - - - - 3p22.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 17145499[PMID] - - sodium voltage-gated channel alpha subunit 9 - SCN9A - - ETHA - NE-NA - NENA - Nav1.7 - PN1 - - - gene with protein product - - - - ClinVar - SCN9A - - - Ensembl - ENSG00000169432 - - - Genatlas - SCN9A - - - HGNC - 10597 - - - IUPHAR - 584 - - - OMIM - 603415 - - - Reactome - Q15858 - - - SwissProt - Q15858 - - - - - 2q24.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 46059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46059 - Lathosterolosis - - Disease - - - Disorder - - - - 12812989[PMID] - - sterol-C5-desaturase - SC5D - - lathosterol oxidase - delta(7)-sterol 5(6)-desaturase - - - gene with protein product - - - - ClinVar - SC5DL - - - IUPHAR - 3296 - - - Ensembl - ENSG00000109929 - - - Genatlas - SC5DL - - - HGNC - 10547 - - - OMIM - 602286 - - - Reactome - O75845 - - - SwissProt - O75845 - - - - - 11q23.3-q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 47044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47044 - Hereditary papillary renal cell carcinoma - - Disease - - - Disorder - - - - - - MET proto-oncogene, receptor tyrosine kinase - MET - - DFNB97 - HGFR - RCCP2 - hepatocyte growth factor receptor - - - gene with protein product - - - - Ensembl - ENSG00000105976 - - - Genatlas - MET - - - HGNC - 7029 - - - IUPHAR - 1815 - - - OMIM - 164860 - - - Reactome - P08581 - - - SwissProt - P08581 - - - ClinVar - MET - - - - - 7q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 46627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46627 - Char syndrome - - Malformation syndrome - - - Disorder - - - - 20301285[PMID] - - transcription factor AP-2 beta - TFAP2B - - AP2-B - AP-2beta - - - gene with protein product - - - - Ensembl - ENSG00000008196 - - - Genatlas - TFAP2B - - - HGNC - 11743 - - - ClinVar - TFAP2B - - - OMIM - 601601 - - - SwissProt - Q92481 - - - Reactome - Q92481 - - - - - 6p12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 46532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46532 - Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome - - Disease - - - Disorder - - - - 19050890[PMID] - - hemoglobin subunit beta - HBB - - CD113t-C - beta-globin - - - gene with protein product - - - - ClinVar - HBB - - - HGNC - 4827 - - - OMIM - 141900 - - - Reactome - P68871 - - - SwissProt - P68871 - - - Ensembl - ENSG00000244734 - - - Genatlas - HBB - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 6210198[PMID]_24144231[PMID] - - hemoglobin subunit gamma 1 - HBG1 - - HBG-T2 - fetal hemoglobin F subunit gamma 1 - - - gene with protein product - - - - Ensembl - ENSG00000213934 - - - Genatlas - HBG1 - - - HGNC - 4831 - - - OMIM - 142200 - - - Reactome - P69891 - - - SwissProt - P69891 - - - ClinVar - HBG1 - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19050890[PMID]_24144231[PMID]_25435729[PMID] - - hemoglobin subunit gamma 2 - HBG2 - - HBG-T1 - fetal hemoglobin F subunit gamma 2 - - - gene with protein product - - - - Ensembl - ENSG00000196565 - - - Genatlas - HBG2 - - - HGNC - 4832 - - - OMIM - 142250 - - - Reactome - P69892 - - - SwissProt - P69892 - - - ClinVar - HBG2 - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20676099[PMID] - - KLF transcription factor 1 - KLF1 - - EKLF - erythroid Kruppel-like factor - - - gene with protein product - - - - Ensembl - ENSG00000105610 - - - Genatlas - KLF1 - - - HGNC - 6345 - - - OMIM - 600599 - - - SwissProt - Q13351 - - - ClinVar - KLF1 - - - - - 19p13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 544503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544503 - RNF13-related severe early-onset epileptic encephalopathy - - Disease - - - Disorder - - - - 30595371[PMID] - - ring finger protein 13 - RNF13 - - RZF - - - gene with protein product - - - - HGNC - 10057 - - - Ensembl - ENSG00000082996 - - - SwissProt - O43567 - - - Reactome - O43567 - - - OMIM - 609247 - - - - - 3q25.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 544488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544488 - Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome - - Disease - - - Disorder - - - - 30239107[PMID]_30475435[PMID]_30544565[PMID] - - ornithine decarboxylase 1 - ODC1 - - ODC - - - gene with protein product - - - - HGNC - 8109 - - - Ensembl - ENSG00000115758 - - - SwissProt - P11926 - - - Reactome - P11926 - - - IUPHAR - 1276 - - - OMIM - 165640 - - - - - 2p25.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 544469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544469 - PRUNE1-related neurological syndrome - - Malformation syndrome - - - Disorder - - - - 30556349[PMID] - - prune exopolyphosphatase 1 - PRUNE1 - - H-PRUNE - HTCD37 - DRES-17 - - - gene with protein product - - - - HGNC - 13420 - - - SwissProt - Q86TP1 - - - Ensembl - ENSG00000143363 - - - OMIM - 617413 - - - - - 1q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 544472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544472 - Atypical hemolytic uremic syndrome with complement gene abnormality - - Etiological subtype - - - Subtype of disorder - - - - 20301541[PMID] - - thrombomodulin - THBD - - CD141 - THRM - fetomodulin - BDCA-3 - - - gene with protein product - - - - ClinVar - THBD - - - Ensembl - ENSG00000178726 - - - Genatlas - THBD - - - HGNC - 11784 - - - OMIM - 188040 - - - Reactome - P07204 - - - SwissProt - P07204 - - - - - 20p11.21 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 20301541[PMID] - - complement C3 - C3 - - ARMD9 - C3a - C3a anaphylatoxin - C3b - CPAMD1 - complement component C3a - complement component C3b - prepro-C3 - - - gene with protein product - - - - ClinVar - C3 - - - Ensembl - ENSG00000125730 - - - Genatlas - C3 - - - HGNC - 1318 - - - OMIM - 120700 - - - Reactome - P01024 - - - SwissProt - P01024 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301541[PMID] - - CD46 molecule - CD46 - - MGC26544 - TLX - TRA2.10 - trophoblast-lymphocyte cross-reactive antigen - - - gene with protein product - - - - Ensembl - ENSG00000117335 - - - Genatlas - CD46 - - - HGNC - 6953 - - - OMIM - 120920 - - - Reactome - P15529 - - - SwissProt - P15529 - - - ClinVar - CD46 - - - - - 1q32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301541[PMID] - - complement factor B - CFB - - H2-Bf - properdin B - properdin factor B - - - gene with protein product - - - - ClinVar - CFB - - - Ensembl - ENSG00000243649 - - - Genatlas - CFB - - - HGNC - 1037 - - - IUPHAR - 2339 - - - OMIM - 138470 - - - Reactome - P00751 - - - SwissProt - P00751 - - - - - 6p21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301541[PMID] - - complement factor H - CFH - - ARMD4 - ARMS1 - FHL1 - H factor 2 (complement) - HUS - age-related maculopathy susceptibility 1 - beta-1H - - - gene with protein product - - - - Ensembl - ENSG00000000971 - - - Genatlas - CFH - - - HGNC - 4883 - - - OMIM - 134370 - - - Reactome - P08603 - - - SwissProt - P08603 - - - ClinVar - CFH - - - - - 1q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301541[PMID] - - complement factor I - CFI - - C3b-INA - C3b-inactivator - FI - KAF - Konglutinogen-activating factor - - - gene with protein product - - - - OMIM - 217030 - - - Reactome - P05156 - - - SwissProt - P05156 - - - Ensembl - ENSG00000205403 - - - Genatlas - CFI - - - HGNC - 5394 - - - ClinVar - CFI - - - - - 4q25 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 47045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47045 - Familial cold urticaria - - Disease - - - Disorder - - - - 11687797[PMID] - - NLR family pyrin domain containing 3 - NLRP3 - - AGTAVPRL - AII - AVP - CLR1.1 - Cryopyrin - FCAS - FCU - MWS - NALP3 - PYPAF1 - nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3 - - - gene with protein product - - - - Ensembl - ENSG00000162711 - - - Genatlas - NLRP3 - - - HGNC - 16400 - - - OMIM - 606416 - - - Reactome - Q96P20 - - - SwissProt - Q96P20 - - - IUPHAR - 1770 - - - ClinVar - NLRP3 - - - - - 1q44 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 544628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544628 - Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome - - Disease - - - Disorder - - - - 24285859[PMID] - - hepatocyte nuclear factor 4 alpha - HNF4A - - HNF4 - NR2A1 - - - gene with protein product - - - - Genatlas - HNF4A - - - HGNC - 5024 - - - IUPHAR - 608 - - - OMIM - 600281 - - - Reactome - P41235 - - - SwissProt - P41235 - - - ClinVar - HNF4A - - - Ensembl - ENSG00000101076 - - - - - 20q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 544602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544602 - Congenital myopathy with reduced type 2 muscle fibers - - Disease - - - Disorder - - - - 30215711[PMID] - - myosin light chain 1 - MYL1 - - MLC3F - MLC1/3 - MLC1F - MLC-1 - MLC1 - Myosin light chain 1/3, skeletal muscle isoform - - - gene with protein product - - - - HGNC - 7582 - - - Ensembl - ENSG00000168530 - - - SwissProt - P05976 - - - Reactome - P05976 - - - OMIM - 160780 - - - - - 2q34 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 555402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555402 - NAD(P)HX dehydratase deficiency - - Disease - - - Disorder - - - - 30576410[PMID] - - NAD(P)HX dehydratase - NAXD - - LP3298 - FLJ10769 - ATP-dependent NAD(P)H-hydrate dehydratase - - - gene with protein product - - - - HGNC - 25576 - - - Ensembl - ENSG00000213995 - - - SwissProt - Q8IW45 - - - Reactome - Q8IW45 - - - OMIM - 615910 - - - - - 13q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 555407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555407 - NAD(P)HX epimerase deficiency - - Disease - - - Disorder - - - - 27616477[PMID]_27122014[PMID]_29884839[PMID] - - NAD(P)HX epimerase - NAXE - - YJEFN1 - MGC119145 - MGC119144 - MGC119143 - AIBP - NAD(P)H-hydrate epimerase - apoA-I binding protein - - - gene with protein product - - - - HGNC - 18453 - - - OMIM - 608862 - - - Ensembl - ENSG00000163382 - - - SwissProt - Q8NCW5 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 555877 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555877 - FLNA-related X-linked myxomatous valvular dysplasia - - Morphological anomaly - - - Disorder - - - - 17190868[PMID] - - filamin A - FLNA - - ABP-280 - actin binding protein 280 - alpha filamin - - - gene with protein product - - - - Ensembl - ENSG00000196924 - - - Genatlas - FLNA - - - HGNC - 3754 - - - OMIM - 300017 - - - Reactome - P21333 - - - SwissProt - P21333 - - - ClinVar - FLNA - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 556030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556030 - Early-onset familial hypoaldosteronism - - Clinical subtype - - - Subtype of disorder - - - - 22801770[PMID] - - cytochrome P450 family 11 subfamily B member 2 - CYP11B2 - - ALDOS - CPN2 - CYP11BL - P-450C18 - P450aldo - steroid 11-beta-monooxygenase - - - gene with protein product - - - - ClinVar - CYP11B2 - - - IUPHAR - 1360 - - - Ensembl - ENSG00000179142 - - - Genatlas - CYP11B2 - - - HGNC - 2592 - - - OMIM - 124080 - - - Reactome - P19099 - - - SwissProt - P19099 - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 556985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556985 - Early-onset calcifying leukoencephalopathy-skeletal dysplasia - - Disease - - - Disorder - - - - 30982608[PMID]_30982609[PMID] - - colony stimulating factor 1 receptor - CSF1R - - C-FMS - CD115 - CSFR - - - gene with protein product - - - - Reactome - P07333 - - - Ensembl - ENSG00000182578 - - - Genatlas - CSF1R - - - HGNC - 2433 - - - IUPHAR - 1806 - - - OMIM - 164770 - - - SwissProt - P07333 - - - ClinVar - CSF1R - - - - - 5q32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 556955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556955 - Pancreatic agenesis-holoprosencephaly syndrome - - Disease - - - Disorder - - - - 31006513[PMID] - - CCR4-NOT transcription complex subunit 1 - CNOT1 - - CDC39 - NOT1H - KIAA1007 - AD-005 - - - gene with protein product - - - - HGNC - 7877 - - - Ensembl - ENSG00000125107 - - - SwissProt - A5YKK6 - - - Reactome - A5YKK6 - - - OMIM - 604917 - - - - - 16q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 557064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557064 - Neonatal epileptic encephalopathy due to glutaminase deficiency - - Disease - - - Disorder - - - - 30575854[PMID] - - glutaminase - GLS - - KIAA0838 - GLS1 - GAM - GAC - K-glutaminase - glutaminase C - KGA - - - gene with protein product - - - - HGNC - 4331 - - - Ensembl - ENSG00000115419 - - - SwissProt - O94925 - - - Reactome - O94925 - - - IUPHAR - 2891 - - - OMIM - 138280 - - - - - 2q32.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 557056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557056 - Spastic ataxia-dysarthria due to glutaminase deficiency - - Disease - - - Disorder - - - - 30575854[PMID]_30970188[PMID]_30987386[PMID] - - glutaminase - GLS - - KIAA0838 - GLS1 - GAM - GAC - K-glutaminase - glutaminase C - KGA - - - gene with protein product - - - - HGNC - 4331 - - - Ensembl - ENSG00000115419 - - - SwissProt - O94925 - - - Reactome - O94925 - - - IUPHAR - 2891 - - - OMIM - 138280 - - - - - 2q32.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 557003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557003 - Oculoskeletodental syndrome - - Disease - - - Disorder - - - - 31034465[PMID] - - phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha - PIK3C2A - - PI3K-C2alpha - Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha - - - gene with protein product - - - - HGNC - 8971 - - - Ensembl - ENSG00000011405 - - - IUPHAR - 2150 - - - SwissProt - O00443 - - - OMIM - 603601 - - - ClinVar - PIK3C2A - - - Genatlas - PIK3C2A - - - - - 11p15.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 519388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519388 - Autosomal recessive anterior segment dysgenesis - - Malformation syndrome - - - Disorder - - - - 27839872[PMID] - - C3 and PZP like alpha-2-macroglobulin domain containing 8 - CPAMD8 - - KIAA1283 - VIP - K-CAP - - - gene with protein product - - - - HGNC - 23228 - - - Ensembl - ENSG00000160111 - - - OMIM - 608841 - - - SwissProt - Q8IZJ3 - - - - - 19p13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90050 - Retinopathy of prematurity - - Disease - - - Disorder - - - - 23441120[PMID] - - LDL receptor related protein 5 - LRP5 - - BMND1 - EVR4 - HBM - LR3 - OPS - OPTA1 - VBCH2 - - - gene with protein product - - - - ClinVar - LRP5 - - - Ensembl - ENSG00000162337 - - - Genatlas - LRP5 - - - HGNC - 6697 - - - OMIM - 603506 - - - Reactome - O75197 - - - SwissProt - O75197 - - - - - 11q13.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23441120[PMID] - - frizzled class receptor 4 - FZD4 - - CD344 - - - gene with protein product - - - - ClinVar - FZD4 - - - Ensembl - ENSG00000174804 - - - Genatlas - FZD4 - - - HGNC - 4042 - - - IUPHAR - 232 - - - OMIM - 604579 - - - Reactome - Q9ULV1 - - - SwissProt - Q9ULV1 - - - - - 11q14.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 20301506[PMID] - - norrin cystine knot growth factor NDP - NDP - - norrin - - - gene with protein product - - - - Reactome - Q00604 - - - ClinVar - NDP - - - Ensembl - ENSG00000124479 - - - Genatlas - NDP - - - HGNC - 7678 - - - OMIM - 300658 - - - SwissProt - Q00604 - - - - - Xp11.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 90045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90045 - Hereditary folate malabsorption - - Disease - - - Disorder - - - - - - solute carrier family 46 member 1 - SLC46A1 - - HCP1 - MGC9564 - PCFT - heme carrier protein 1 - proton-coupled folate transporter - hPCFT - HsPCFT - - - gene with protein product - - - - IUPHAR - 1213 - - - ClinVar - SLC46A1 - - - Ensembl - ENSG00000076351 - - - Genatlas - SLC46A1 - - - HGNC - 30521 - - - OMIM - 611672 - - - Reactome - Q96NT5 - - - SwissProt - Q96NT5 - - - - - 17q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90039 - Hemoglobin D disease - - Disease - - - Disorder - - - - 11757720[PMID]_25332633[PMID] - - hemoglobin subunit beta - HBB - - CD113t-C - beta-globin - - - gene with protein product - - - - ClinVar - HBB - - - HGNC - 4827 - - - OMIM - 141900 - - - Reactome - P68871 - - - SwissProt - P68871 - - - Ensembl - ENSG00000244734 - - - Genatlas - HBB - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90044 - Familial pseudohyperkalemia - - Disease - - - Disorder - - - - 23180570[PMID]_24947683[PMID] - - ATP binding cassette subfamily B member 6 (LAN blood group) - ABCB6 - - umat - ATP-binding cassette half-transporter - EST45597 - MTABC3 - - - gene with protein product - - - - Ensembl - ENSG00000115657 - - - Genatlas - ABCB6 - - - HGNC - 47 - - - OMIM - 605452 - - - Reactome - Q9NP58 - - - SwissProt - Q9NP58 - - - IUPHAR - 773 - - - ClinVar - ABCB6 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 90042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90042 - Primary familial polycythemia - - Disease - - - Disorder - - - - 9359528[PMID]_9192789[PMID] - - erythropoietin receptor - EPOR - - EPO-R - - - gene with protein product - - - - Reactome - P19235 - - - Ensembl - ENSG00000187266 - - - Genatlas - EPOR - - - HGNC - 3416 - - - IUPHAR - 1718 - - - OMIM - 133171 - - - SwissProt - P19235 - - - ClinVar - EPOR - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90024 - Deafness with labyrinthine aplasia, microtia, and microdontia - - Malformation syndrome - - - Disorder - - - - 22993869[PMID] - - fibroblast growth factor 3 - FGF3 - - HBGF-3 - INT-2 proto-oncogene protein - V-INT2 murine mammary tumor virus integration site oncogene homolog - murine mammary tumor virus integration site 2, mouse - oncogene INT2 - - - gene with protein product - - - - ClinVar - FGF3 - - - Ensembl - ENSG00000186895 - - - Genatlas - FGF3 - - - HGNC - 3681 - - - OMIM - 164950 - - - Reactome - P11487 - - - SwissProt - P11487 - - - - - 11q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90023 - Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency - - Disease - - - Disorder - - - - - - late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 - LAMTOR2 - - ENDAP - MAPBPIP - MAPKSP1 adaptor protein - MAPKSP1AP - Ragulator2 - p14 - mitogen activated protein binding protein interacting protein - endosomal adaptor protein - - - gene with protein product - - - - ClinVar - LAMTOR2 - - - Ensembl - ENSG00000116586 - - - Genatlas - LAMTOR2 - - - HGNC - 29796 - - - OMIM - 610389 - - - Reactome - Q9Y2Q5 - - - SwissProt - Q9Y2Q5 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90020 - Parkinson-dementia complex of Guam - - Disease - - - Disorder - - - - - - Parkinsonism associated deglycase - PARK7 - - GATD2 - DJ-1 - DJ1 - - - gene with protein product - - - - Ensembl - ENSG00000116288 - - - Genatlas - PARK7 - - - HGNC - 16369 - - - OMIM - 602533 - - - SwissProt - Q99497 - - - ClinVar - PARK7 - - - Reactome - Q99497 - - - - - 1p36.23 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - transient receptor potential cation channel subfamily M member 7 - TRPM7 - - CHAK1 - LTRPC7 - TRP-PLIK - - - gene with protein product - - - - ClinVar - TRPM7 - - - SwissProt - Q96QT4 - - - Ensembl - ENSG00000092439 - - - Genatlas - TRPM7 - - - HGNC - 17994 - - - IUPHAR - 499 - - - OMIM - 605692 - - - Reactome - Q96QT4 - - - - - 15q21.2 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - 90031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90031 - Non-spherocytic hemolytic anemia due to hexokinase deficiency - - Disease - - - Disorder - - - - 12393545[PMID] - - hexokinase 1 - HK1 - - HKI - - - gene with protein product - - - - ClinVar - HK1 - - - Ensembl - ENSG00000156515 - - - Genatlas - HK1 - - - HGNC - 4922 - - - OMIM - 142600 - - - Reactome - P19367 - - - SwissProt - P19367 - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90026 - Primary erythromelalgia - - Disease - - - Disorder - - - - 15958509[PMID] - - sodium voltage-gated channel alpha subunit 9 - SCN9A - - ETHA - NE-NA - NENA - Nav1.7 - PN1 - - - gene with protein product - - - - ClinVar - SCN9A - - - Ensembl - ENSG00000169432 - - - Genatlas - SCN9A - - - HGNC - 10597 - - - IUPHAR - 584 - - - OMIM - 603415 - - - Reactome - Q15858 - - - SwissProt - Q15858 - - - - - 2q24.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - sodium voltage-gated channel alpha subunit 10 - SCN10A - - Nav1.8 - PN3 - SNS - hPN3 - peripheral nerve sodium channel 3 - sensory neuron sodium channel - - - gene with protein product - - - - Ensembl - ENSG00000185313 - - - Genatlas - SCN10A - - - HGNC - 10582 - - - IUPHAR - 585 - - - OMIM - 604427 - - - Reactome - Q9Y5Y9 - - - SwissProt - Q9Y5Y9 - - - ClinVar - SCN10A - - - - - 3p22.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - sodium voltage-gated channel alpha subunit 11 - SCN11A - - NaN - Nav1.9 - SNS-2 - - - gene with protein product - - - - Ensembl - ENSG00000168356 - - - Genatlas - SCN11A - - - HGNC - 10583 - - - IUPHAR - 586 - - - OMIM - 604385 - - - Reactome - Q9UI33 - - - SwissProt - Q9UI33 - - - ClinVar - SCN11A - - - - - 3p22.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 90030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90030 - Hemolytic anemia due to glutathione reductase deficiency - - Disease - - - Disorder - - - - 17185460[PMID] - - glutathione-disulfide reductase - GSR - - glutathione S-reductase - - - gene with protein product - - - - ClinVar - GSR - - - HGNC - 4623 - - - IUPHAR - 2613 - - - OMIM - 138300 - - - Reactome - P00390 - - - SwissProt - P00390 - - - Ensembl - ENSG00000104687 - - - Genatlas - GSR - - - - - 8p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 89936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89936 - X-linked hypophosphatemia - - Disease - - - Disorder - - - - 22319799[PMID] - - phosphate regulating endopeptidase X-linked - PHEX - - Phosphate-regulating neutral endopeptidase - PHEX peptidase - HPDR1 - HYP1 - PEX - XLH - - - gene with protein product - - - - Ensembl - ENSG00000102174 - - - Genatlas - PHEX - - - HGNC - 8918 - - - OMIM - 300550 - - - SwissProt - P78562 - - - ClinVar - PHEX - - - - - Xp22.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 89844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89844 - Lissencephaly syndrome, Norman-Roberts type - - Clinical subtype - - - Subtype of disorder - - - - 21529751[PMID]_21529752[PMID] - - nudE neurodevelopment protein 1 - NDE1 - - FLJ20101 - NDE - NUDE - nudE - - - gene with protein product - - - - Ensembl - ENSG00000072864 - - - Genatlas - NDE1 - - - HGNC - 17619 - - - OMIM - 609449 - - - Reactome - Q9NXR1 - - - SwissProt - Q9NXR1 - - - ClinVar - NDE1 - - - - - 16p13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25521378[PMID]_25521379[PMID] - - katanin regulatory subunit B1 - KATNB1 - - - - gene with protein product - - - - Ensembl - ENSG00000140854 - - - Genatlas - KATNB1 - - - HGNC - 6217 - - - OMIM - 602703 - - - SwissProt - Q9BVA0 - - - ClinVar - KATNB1 - - - - - 16q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 10973257[PMID] - - reelin - RELN - - PRO1598 - RL - - - gene with protein product - - - - ClinVar - RELN - - - Ensembl - ENSG00000189056 - - - Genatlas - RELN - - - HGNC - 9957 - - - OMIM - 600514 - - - SwissProt - P78509 - - - Reactome - P78509 - - - - - 7q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 89843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89843 - Dystrophic epidermolysis bullosa pruriginosa - - Disease - - - Disorder - - - - - - collagen type VII alpha 1 chain - COL7A1 - - LC collagen - collagen VII, alpha-1 polypeptide - - - gene with protein product - - - - ClinVar - COL7A1 - - - Ensembl - ENSG00000114270 - - - Genatlas - COL7A1 - - - HGNC - 2214 - - - OMIM - 120120 - - - Reactome - Q02388 - - - SwissProt - Q02388 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 89842 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89842 - Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form - - Disease - - - Disorder - - - - - - collagen type VII alpha 1 chain - COL7A1 - - LC collagen - collagen VII, alpha-1 polypeptide - - - gene with protein product - - - - ClinVar - COL7A1 - - - Ensembl - ENSG00000114270 - - - Genatlas - COL7A1 - - - HGNC - 2214 - - - OMIM - 120120 - - - Reactome - Q02388 - - - SwissProt - Q02388 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 90001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90001 - X-linked cone dysfunction syndrome with myopia - - Disease - - - Disorder - - - - 23322568[PMID] - - opsin 1, medium wave sensitive - OPN1MW - - COD5 - OPN1MW1 - cone dystrophy 5 (X-linked) - - - gene with protein product - - - - IUPHAR - 2962 - - - Ensembl - ENSG00000268221 - - - Genatlas - OPN1MW - - - HGNC - 4206 - - - OMIM - 300821 - - - Reactome - P04001 - - - SwissProt - P04001 - - - ClinVar - OPN1MW - - - - - Xq28 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 23322568[PMID] - - opsin 1, long wave sensitive - OPN1LW - - COD5 - cone dystrophy 5 (X-linked) - - - gene with protein product - - - - Reactome - P04000 - - - SwissProt - P04000 - - - Ensembl - ENSG00000102076 - - - ClinVar - OPN1LW - - - Genatlas - OPN1LW - - - HGNC - 9936 - - - OMIM - 300822 - - - IUPHAR - 2961 - - - - - Xq28 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 89938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89938 - Bartter syndrome type 4 - - Clinical subtype - - - Subtype of disorder - - - - 23110775[PMID] - - barttin CLCNK type accessory subunit beta - BSND - - BART - - - gene with protein product - - - - Ensembl - ENSG00000162399 - - - Genatlas - BSND - - - HGNC - 16512 - - - OMIM - 606412 - - - Reactome - Q8WZ55 - - - SwissProt - Q8WZ55 - - - ClinVar - BSND - - - - - 1p32.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18310267[PMID]_18776122[PMID]_12920401[PMID] - - chloride voltage-gated channel Kb - CLCNKB - - hClC-Kb - Chloride channel protein ClC-Kb - CLCKB - ClC-K2 - ClC-Kb - - - gene with protein product - - - - IUPHAR - 701 - - - Ensembl - ENSG00000184908 - - - Genatlas - CLCNKB - - - HGNC - 2027 - - - OMIM - 602023 - - - Reactome - P51801 - - - SwissProt - P51801 - - - ClinVar - CLCNKB - - - - - 1p36.13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 18310267[PMID]_18776122[PMID]_12920401[PMID] - - chloride voltage-gated channel Ka - CLCNKA - - hClC-Ka - Chloride channel protein ClC-Ka - ClC-K1 - CLCK1 - - - gene with protein product - - - - Ensembl - ENSG00000186510 - - - Genatlas - CLCNKA - - - HGNC - 2026 - - - OMIM - 602024 - - - Reactome - P51800 - - - SwissProt - P51800 - - - ClinVar - CLCNKA - - - IUPHAR - 700 - - - - - 1p36.13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 89937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89937 - Autosomal dominant hypophosphatemic rickets - - Disease - - - Disorder - - - - 11062477[PMID]_19655082[PMID] - - fibroblast growth factor 23 - FGF23 - - - - gene with protein product - - - - SwissProt - Q9GZV9 - - - Ensembl - ENSG00000118972 - - - Genatlas - FGF23 - - - HGNC - 3680 - - - OMIM - 605380 - - - Reactome - Q9GZV9 - - - ClinVar - FGF23 - - - - - 12p13.32 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 90340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90340 - Blau syndrome - - Disease - - - Disorder - - - - - - nucleotide binding oligomerization domain containing 2 - NOD2 - - BLAU - CD - CLR16.3 - NLR family, CARD domain containing 2 - NLRC2 - NOD-like receptor C2 - PSORAS1 - nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2 - - - gene with protein product - - - - Ensembl - ENSG00000167207 - - - Genatlas - NOD2 - - - HGNC - 5331 - - - OMIM - 605956 - - - Reactome - Q9HC29 - - - SwissProt - Q9HC29 - - - IUPHAR - 1763 - - - ClinVar - NOD2 - - - - - 16q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90342 - Xeroderma pigmentosum variant - - Disease - - - Disorder - - - - 24130121[PMID] - - DNA polymerase eta - POLH - - RAD30A - XP-V - - - gene with protein product - - - - Ensembl - ENSG00000170734 - - - Genatlas - POLH - - - HGNC - 9181 - - - OMIM - 603968 - - - Reactome - Q9Y253 - - - SwissProt - Q9Y253 - - - ClinVar - POLH - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90348 - Autosomal dominant cutis laxa - - Disease - - - Disorder - - - - 26320891[PMID] - - aldehyde dehydrogenase 18 family member A1 - ALDH18A1 - - P5CS - delta-1-pyrroline-5-carboxylate synthase - - - gene with protein product - - - - HGNC - 9722 - - - OMIM - 138250 - - - Reactome - P54886 - - - SwissProt - P54886 - - - Ensembl - ENSG00000059573 - - - Genatlas - ALDH18A1 - - - ClinVar - ALDH18A1 - - - - - 10q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12618961[PMID]_20301756[PMID] - - fibulin 5 - FBLN5 - - ARMD3 - DANCE - EVEC - UP50 - developmental arteries and neural crest EGF-like - embryonic vascular EGF-like repeat-containing protein - - - gene with protein product - - - - ClinVar - FBLN5 - - - Ensembl - ENSG00000140092 - - - Genatlas - FBLN5 - - - HGNC - 3602 - - - OMIM - 604580 - - - Reactome - Q9UBX5 - - - SwissProt - Q9UBX5 - - - - - 14q32.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16085695[PMID]_18348261[PMID] - - elastin - ELN - - SVAS - WBS - WS - Williams-Beuren syndrome - supravalvular aortic stenosis - tropoelastin - - - gene with protein product - - - - ClinVar - ELN - - - Ensembl - ENSG00000049540 - - - Genatlas - ELN - - - HGNC - 3327 - - - OMIM - 130160 - - - Reactome - P15502 - - - SwissProt - P15502 - - - - - 7q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90349 - Autosomal recessive cutis laxa type 1 - - Disease - - - Disorder - - - - 16685658[PMID]_19664000[PMID] - - EGF containing fibulin extracellular matrix protein 2 - EFEMP2 - - FBLN4 - UPH1 - fibulin 4 - - - gene with protein product - - - - Ensembl - ENSG00000172638 - - - Genatlas - EFEMP2 - - - HGNC - 3219 - - - OMIM - 604633 - - - Reactome - O95967 - - - SwissProt - O95967 - - - ClinVar - EFEMP2 - - - - - 11q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22829427[PMID] - - fibulin 5 - FBLN5 - - ARMD3 - DANCE - EVEC - UP50 - developmental arteries and neural crest EGF-like - embryonic vascular EGF-like repeat-containing protein - - - gene with protein product - - - - ClinVar - FBLN5 - - - Ensembl - ENSG00000140092 - - - Genatlas - FBLN5 - - - HGNC - 3602 - - - OMIM - 604580 - - - Reactome - Q9UBX5 - - - SwissProt - Q9UBX5 - - - - - 14q32.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33991472[PMID] - - latent transforming growth factor beta binding protein 1 - LTBP1 - - Transforming growth factor beta-1-binding protein 1 - TGF-beta1-BP-1 - - - gene with protein product - - - - SwissProt - Q14766 - - - HGNC - 6714 - - - OMIM - 150390 - - - Ensembl - ENSG00000049323 - - - - - 2p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90354 - Brittle cornea syndrome - - Disease - - - Disorder - - - - 19661234[PMID]_20938016[PMID] - - zinc finger protein 469 - ZNF469 - - KIAA1858 - Zfp469 - - - gene with protein product - - - - OMIM - 612078 - - - SwissProt - Q96JG9 - - - ClinVar - ZNF469 - - - Ensembl - ENSG00000225614 - - - Genatlas - ZNF469 - - - HGNC - 23216 - - - - - 16q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21664999[PMID] - - PR/SET domain 5 - PRDM5 - - PFM2 - - - gene with protein product - - - - ClinVar - PRDM5 - - - Reactome - Q9NQX1 - - - Ensembl - ENSG00000138738 - - - Genatlas - PRDM5 - - - HGNC - 9349 - - - OMIM - 614161 - - - SwissProt - Q9NQX1 - - - - - 4q27 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90308 - Capillary-lymphatic-venous malformation with segmental distribution - - Disease - - - Disorder - - - - 18564129[PMID] - - angiogenic factor with G-patch and FHA domains 1 - AGGF1 - - FLJ10283 - GPATC7 - GPATCH7 - HSU84971 - VG5Q - - - gene with protein product - - - - Reactome - Q8N302 - - - Ensembl - ENSG00000164252 - - - Genatlas - AGGF1 - - - HGNC - 24684 - - - OMIM - 608464 - - - SwissProt - Q8N302 - - - ClinVar - AGGF1 - - - - - 5q13.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 26268729[PMID] - - phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha - PIK3CA - - PI3K - - - gene with protein product - - - - Reactome - P42336 - - - SwissProt - P42336 - - - Ensembl - ENSG00000121879 - - - Genatlas - PIK3CA - - - HGNC - 8975 - - - IUPHAR - 2153 - - - OMIM - 171834 - - - ClinVar - PIK3CA - - - - - 3q26.32 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 90307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90307 - Parkes Weber syndrome - - Disease - - - Disorder - - - - 18446851[PMID]_21348050[PMID] - - RAS p21 protein activator 1 - RASA1 - - Ras GTPase-activating protein 1 - CM-AVM - GAP - capillary malformation-arteriovenous malformation - p120 - p120 RAS GTPase activating protein - p120GAP - p120RASGAP - - - gene with protein product - - - - ClinVar - RASA1 - - - Ensembl - ENSG00000145715 - - - Genatlas - RASA1 - - - HGNC - 9871 - - - OMIM - 139150 - - - Reactome - P20936 - - - SwissProt - P20936 - - - - - 5q14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90322 - Cockayne syndrome type 2 - - Clinical subtype - - - Subtype of disorder - - - - 20301516[PMID] - - ERCC excision repair 6, chromatin remodeling factor - ERCC6 - - ARMD5 - CSB - Cockayne syndrome B protein - RAD26 - - - gene with protein product - - - - ClinVar - ERCC6 - - - Ensembl - ENSG00000225830 - - - Genatlas - ERCC6 - - - HGNC - 3438 - - - OMIM - 609413 - - - Reactome - Q03468 - - - SwissProt - Q03468 - - - - - 10q11.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301516[PMID] - - ERCC excision repair 8, CSA ubiquitin ligase complex subunit - ERCC8 - - CSA - - - gene with protein product - - - - Ensembl - ENSG00000049167 - - - Genatlas - ERCC8 - - - HGNC - 3439 - - - OMIM - 609412 - - - Reactome - Q13216 - - - SwissProt - Q13216 - - - ClinVar - ERCC8 - - - - - 5q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23623389[PMID] - - ERCC excision repair 1, endonuclease non-catalytic subunit - ERCC1 - - RAD10 - - - gene with protein product - - - - SwissProt - P07992 - - - Ensembl - ENSG00000012061 - - - Genatlas - ERCC1 - - - HGNC - 3433 - - - OMIM - 126380 - - - Reactome - P07992 - - - ClinVar - ERCC1 - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90321 - Cockayne syndrome type 1 - - Clinical subtype - - - Subtype of disorder - - - - 23623389[PMID] - - ERCC excision repair 4, endonuclease catalytic subunit - ERCC4 - - FANCQ - RAD1 - xeroderma pigmentosum, complementation group F - - - gene with protein product - - - - ClinVar - ERCC4 - - - HGNC - 3436 - - - OMIM - 133520 - - - Reactome - Q92889 - - - SwissProt - Q92889 - - - Ensembl - ENSG00000175595 - - - Genatlas - ERCC4 - - - - - 16p13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301516[PMID] - - ERCC excision repair 6, chromatin remodeling factor - ERCC6 - - ARMD5 - CSB - Cockayne syndrome B protein - RAD26 - - - gene with protein product - - - - ClinVar - ERCC6 - - - Ensembl - ENSG00000225830 - - - Genatlas - ERCC6 - - - HGNC - 3438 - - - OMIM - 609413 - - - Reactome - Q03468 - - - SwissProt - Q03468 - - - - - 10q11.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301516[PMID] - - ERCC excision repair 8, CSA ubiquitin ligase complex subunit - ERCC8 - - CSA - - - gene with protein product - - - - Ensembl - ENSG00000049167 - - - Genatlas - ERCC8 - - - HGNC - 3439 - - - OMIM - 609412 - - - Reactome - Q13216 - - - SwissProt - Q13216 - - - ClinVar - ERCC8 - - - - - 5q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90324 - Cockayne syndrome type 3 - - Clinical subtype - - - Subtype of disorder - - - - 20301516[PMID] - - ERCC excision repair 6, chromatin remodeling factor - ERCC6 - - ARMD5 - CSB - Cockayne syndrome B protein - RAD26 - - - gene with protein product - - - - ClinVar - ERCC6 - - - Ensembl - ENSG00000225830 - - - Genatlas - ERCC6 - - - HGNC - 3438 - - - OMIM - 609413 - - - Reactome - Q03468 - - - SwissProt - Q03468 - - - - - 10q11.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301516[PMID] - - ERCC excision repair 8, CSA ubiquitin ligase complex subunit - ERCC8 - - CSA - - - gene with protein product - - - - Ensembl - ENSG00000049167 - - - Genatlas - ERCC8 - - - HGNC - 3439 - - - OMIM - 609412 - - - Reactome - Q13216 - - - SwissProt - Q13216 - - - ClinVar - ERCC8 - - - - - 5q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90153 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90153 - Mandibuloacral dysplasia with type A lipodystrophy - - Clinical subtype - - - Subtype of disorder - - - - 12075506[PMID] - - lamin A/C - LMNA - - HGPS - MADA - mandibuloacral dysplasia type A - progerin - - - gene with protein product - - - - ClinVar - LMNA - - - Ensembl - ENSG00000160789 - - - Genatlas - LMNA - - - HGNC - 6636 - - - OMIM - 150330 - - - Reactome - P02545 - - - SwissProt - P02545 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90154 - Mandibuloacral dysplasia with type B lipodystrophy - - Clinical subtype - - - Subtype of disorder - - - - 12913070[PMID]_18435794[PMID] - - zinc metallopeptidase STE24 - ZMPSTE24 - - CAAX prenyl protease 1 homolog - FACE-1 - HGPS - Hutchinson-Gilford progeria syndrome - PRO1 - STE24 - Ste24p - - - gene with protein product - - - - ClinVar - ZMPSTE24 - - - Ensembl - ENSG00000084073 - - - Genatlas - ZMPSTE24 - - - HGNC - 12877 - - - OMIM - 606480 - - - SwissProt - O75844 - - - Reactome - O75844 - - - - - 1p34.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90186 - Meige disease - - Disease - - - Disorder - - - - 34231312[PMID] - - EPH receptor B4 - EPHB4 - - Tyro11 - - - gene with protein product - - - - SwissProt - P54760 - - - ClinVar - EPHB4 - - - Ensembl - ENSG00000196411 - - - IUPHAR - 1833 - - - OMIM - 600011 - - - HGNC - 3395 - - - Genatlas - EPHB4 - - - - - 7q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90118 - Severe early-onset axonal neuropathy due to MFN2 deficiency - - Disease - - - Disorder - - - - - - mitofusin 2 - MFN2 - - CMT2A2 - CPRP1 - KIAA0214 - MARF - - - gene with protein product - - - - Ensembl - ENSG00000116688 - - - Genatlas - MFN2 - - - HGNC - 16877 - - - OMIM - 608507 - - - Reactome - O95140 - - - SwissProt - O95140 - - - IUPHAR - 3131 - - - ClinVar - MFN2 - - - - - 1p36.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90117 - Hereditary motor and sensory neuropathy, Okinawa type - - Disease - - - Disorder - - - - 22883144[PMID] - - trafficking from ER to golgi regulator - TFG - - FLJ36137 - SPG57 - TF6 - - - gene with protein product - - - - ClinVar - TFG - - - Ensembl - ENSG00000114354 - - - Genatlas - TFG - - - HGNC - 11758 - - - OMIM - 602498 - - - Reactome - Q92734 - - - SwissProt - Q92734 - - - - - 3q12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90120 - Hereditary motor and sensory neuropathy type 6 - - Disease - - - Disorder - - - - 26168012[PMID] - - solute carrier family 25 member 46 - SLC25A46 - - Mitochondrial outer membrane protein - - - gene with protein product - - - - Reactome - Q96AG3 - - - HGNC - 25198 - - - IUPHAR - 1096 - - - OMIM - 610826 - - - SwissProt - Q96AG3 - - - Ensembl - ENSG00000164209 - - - Genatlas - SLC25A46 - - - ClinVar - SLC25A46 - - - - - 5q22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 16437557[PMID] - - mitofusin 2 - MFN2 - - CMT2A2 - CPRP1 - KIAA0214 - MARF - - - gene with protein product - - - - Ensembl - ENSG00000116688 - - - Genatlas - MFN2 - - - HGNC - 16877 - - - OMIM - 608507 - - - Reactome - O95140 - - - SwissProt - O95140 - - - IUPHAR - 3131 - - - ClinVar - MFN2 - - - - - 1p36.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 88644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88644 - Autosomal recessive ataxia, Beauce type - - Disease - - - Disorder - - - - 17159980[PMID] - - spectrin repeat containing nuclear envelope protein 1 - SYNE1 - - 8B - ARCA1 - CPG2 - Enaptin - KIAA0796 - MYNE1 - Nesp1 - Nesprin-1 - SCAR8 - SYNE-1B - dJ45H2.2 - myocyte nuclear envelope protein 1 - nuclear envelope spectrin repeat-1 - enaptin - - - gene with protein product - - - - ClinVar - SYNE1 - - - Ensembl - ENSG00000131018 - - - Genatlas - SYNE1 - - - HGNC - 17089 - - - OMIM - 608441 - - - Reactome - Q8NF91 - - - SwissProt - Q8NF91 - - - - - 6q25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 88637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88637 - Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome - - Clinical subtype - - - Subtype of disorder - - - - 22855961[PMID]_22036172[PMID] - - RNA polymerase III subunit B - POLR3B - - FLJ10388 - RPC2 - C128 - - - gene with protein product - - - - ClinVar - POLR3B - - - Ensembl - ENSG00000013503 - - - Genatlas - POLR3B - - - HGNC - 30348 - - - OMIM - 614366 - - - Reactome - Q9NW08 - - - SwissProt - Q9NW08 - - - - - 12q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26151409[PMID] - - RNA polymerase I and III subunit C - POLR1C - - RPA39 - RPA40 - RPA5 - RPAC1 - AC40 - RPC40 - - - gene with protein product - - - - ClinVar - POLR1C - - - Ensembl - ENSG00000171453 - - - Genatlas - POLR1C - - - HGNC - 20194 - - - OMIM - 610060 - - - Reactome - O15160 - - - SwissProt - O15160 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21855841[PMID]_22855961[PMID] - - RNA polymerase III subunit A - POLR3A - - RPC1 - RPC155 - hRPC155 - C160 - - - gene with protein product - - - - ClinVar - POLR3A - - - Ensembl - ENSG00000148606 - - - Genatlas - POLR3A - - - HGNC - 30074 - - - OMIM - 614258 - - - Reactome - O14802 - - - SwissProt - O14802 - - - - - 10q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 88639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88639 - Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency - - Disease - - - Disorder - - - - 17160907[PMID]_24299452[PMID] - - 3-hydroxyisobutyryl-CoA hydrolase - HIBCH - - - - gene with protein product - - - - Ensembl - ENSG00000198130 - - - Genatlas - HIBCH - - - HGNC - 4908 - - - OMIM - 610690 - - - Reactome - Q6NVY1 - - - SwissProt - Q6NVY1 - - - ClinVar - HIBCH - - - - - 2q32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 88642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88642 - Congenital insensitivity to pain-anosmia-neuropathic arthropathy - - Disease - - - Disorder - - - - 20529343[PMID] - - sodium voltage-gated channel alpha subunit 9 - SCN9A - - ETHA - NE-NA - NENA - Nav1.7 - PN1 - - - gene with protein product - - - - ClinVar - SCN9A - - - Ensembl - ENSG00000169432 - - - Genatlas - SCN9A - - - HGNC - 10597 - - - IUPHAR - 584 - - - OMIM - 603415 - - - Reactome - Q15858 - - - SwissProt - Q15858 - - - - - 2q24.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - sodium voltage-gated channel alpha subunit 10 - SCN10A - - Nav1.8 - PN3 - SNS - hPN3 - peripheral nerve sodium channel 3 - sensory neuron sodium channel - - - gene with protein product - - - - Ensembl - ENSG00000185313 - - - Genatlas - SCN10A - - - HGNC - 10582 - - - IUPHAR - 585 - - - OMIM - 604427 - - - Reactome - Q9Y5Y9 - - - SwissProt - Q9Y5Y9 - - - ClinVar - SCN10A - - - - - 3p22.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - sodium voltage-gated channel alpha subunit 11 - SCN11A - - NaN - Nav1.9 - SNS-2 - - - gene with protein product - - - - Ensembl - ENSG00000168356 - - - Genatlas - SCN11A - - - HGNC - 10583 - - - IUPHAR - 586 - - - OMIM - 604385 - - - Reactome - Q9UI33 - - - SwissProt - Q9UI33 - - - ClinVar - SCN11A - - - - - 3p22.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 88635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88635 - Vacuolar myopathy with sarcoplasmic reticulum protein aggregates - - Disease - - - Disorder - - - - 25116801[PMID] - - calsequestrin 1 - CASQ1 - - CSQ1 - PDIB1 - calmitine - calsequestrin 1, fast-twitch, skeletal muscle - - - gene with protein product - - - - Ensembl - ENSG00000143318 - - - Genatlas - CASQ1 - - - HGNC - 1512 - - - OMIM - 114250 - - - Reactome - P31415 - - - SwissProt - P31415 - - - ClinVar - CASQ1 - - - - - 1q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 88621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88621 - Ichthyosis-prematurity syndrome - - Disease - - - Disorder - - - - 19631310[PMID] - - solute carrier family 27 member 4 - SLC27A4 - - ACSVL4 - FATP4 - Long-chain fatty acid transport protein 4 - FATP-4 - acyl-CoA synthetase very long chain family member 4 - fatty acid transport protein 4 - - - gene with protein product - - - - Ensembl - ENSG00000167114 - - - Genatlas - SLC27A4 - - - HGNC - 10998 - - - OMIM - 604194 - - - Reactome - Q6P1M0 - - - SwissProt - Q6P1M0 - - - IUPHAR - 1111 - - - ClinVar - SLC27A4 - - - - - 9q34.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 88628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88628 - Posterior column ataxia-retinitis pigmentosa syndrome - - Disease - - - Disorder - - - - 21267618[PMID]_20301317[PMID] - - FLVCR choline and heme transporter 1 - FLVCR1 - - SLC49A1 - FLVCR - MFSD7B - PCA - - - gene with protein product - - - - Genatlas - FLVCR1 - - - HGNC - 24682 - - - OMIM - 609144 - - - Reactome - Q9Y5Y0 - - - SwissProt - Q9Y5Y0 - - - Ensembl - ENSG00000162769 - - - IUPHAR - 1910 - - - ClinVar - FLVCR1 - - - - - 1q32.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 88629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88629 - Tritanopia - - Disease - - - Disorder - - - - 1531728[PMID]_1386496[PMID] - - opsin 1, short wave sensitive - OPN1SW - - BOP - CBT - blue-sensitive opsin - color blindness, tritan - - - gene with protein product - - - - IUPHAR - 2960 - - - Ensembl - ENSG00000128617 - - - Genatlas - OPN1SW - - - HGNC - 1012 - - - OMIM - 613522 - - - Reactome - P03999 - - - SwissProt - P03999 - - - ClinVar - OPN1SW - - - - - 7q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 88630 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88630 - Terminal osseous dysplasia-pigmentary defects syndrome - - Malformation syndrome - - - Disorder - - - - 20598277[PMID] - - filamin A - FLNA - - ABP-280 - actin binding protein 280 - alpha filamin - - - gene with protein product - - - - Ensembl - ENSG00000196924 - - - Genatlas - FLNA - - - HGNC - 3754 - - - OMIM - 300017 - - - Reactome - P21333 - - - SwissProt - P21333 - - - ClinVar - FLNA - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 88620 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88620 - Isolated congenital anosmia - - Disease - - - Disorder - - - - 27040985[PMID] - - teneurin transmembrane protein 1 - TENM1 - - TEN-M1 - TEN1 - - - gene with protein product - - - - HGNC - 8117 - - - Ensembl - ENSG00000009694 - - - OMIM - 300588 - - - Genatlas - TENM1 - - - ClinVar - TENM1 - - - SwissProt - Q9UKZ4 - - - - - Xq25 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25156905[PMID] - - cyclic nucleotide gated channel subunit alpha 2 - CNGA2 - - CNG2 - FLJ46312 - OCNC1 - OCNCALPHA - OCNCa - OCNCalpha - - - gene with protein product - - - - ClinVar - CNGA2 - - - Ensembl - ENSG00000183862 - - - Genatlas - CNGA2 - - - HGNC - 2149 - - - IUPHAR - 395 - - - OMIM - 300338 - - - Reactome - Q16280 - - - SwissProt - Q16280 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 88619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88619 - Familial acute necrotizing encephalopathy - - Disease - - - Disorder - - - - 19807769[PMID]_19811512[PMID] - - RAN binding protein 2 - RANBP2 - - nucleoporin 358 - ADANE - NUP358 - - - gene with protein product - - - - ClinVar - RANBP2 - - - Ensembl - ENSG00000153201 - - - Genatlas - RANBP2 - - - HGNC - 9848 - - - OMIM - 601181 - - - Reactome - P49792 - - - SwissProt - P49792 - - - - - 2q13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 88618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88618 - S-adenosylhomocysteine hydrolase deficiency - - Disease - - - Disorder - - - - 16435181[PMID] - - adenosylhomocysteinase - AHCY - - SAHH - AdoHcyase - - - gene with protein product - - - - Ensembl - ENSG00000101444 - - - Genatlas - AHCY - - - HGNC - 343 - - - OMIM - 180960 - - - Reactome - P23526 - - - SwissProt - P23526 - - - IUPHAR - 1233 - - - ClinVar - AHCY - - - - - 20q11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 88616 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88616 - Autosomal recessive non-syndromic intellectual disability - - Etiological subtype - - - Subtype of disorder - - - - 25701870[PMID] - - decapping enzyme, scavenger - DCPS - - HINT-5 - HSL1 - HSPC015 - 5'-(N(7)-methyl 5'-triphosphoguanosine)-[mRNA] diphosphatase - HINT5 - DCS-1 - histidine triad nucleotide binding protein 5 - DCS1 - m7GpppX diphosphatase - - - gene with protein product - - - - HGNC - 29812 - - - OMIM - 610534 - - - Genatlas - DCPS - - - SwissProt - Q96C86 - - - Reactome - Q96C86 - - - Ensembl - ENSG00000110063 - - - ClinVar - DCPS - - - - - 11q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29273094[PMID] - - beta-1,3-N-acetylgalactosaminyltransferase 2 - B3GALNT2 - - MGC39558 - - - gene with protein product - - - - ClinVar - B3GALNT2 - - - Reactome - Q8NCR0 - - - Ensembl - ENSG00000162885 - - - Genatlas - B3GALNT2 - - - HGNC - 28596 - - - OMIM - 610194 - - - SwissProt - Q8NCR0 - - - - - 1q42.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26416544[PMID] - - inositol monophosphatase 1 - IMPA1 - - myo-inositol monophosphatase 1 - - - gene with protein product - - - - HGNC - 6050 - - - Ensembl - ENSG00000133731 - - - OMIM - 602064 - - - IUPHAR - 1463 - - - SwissProt - P29218 - - - - - 8q21.13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 29302074[PMID] - - ATP binding cassette subfamily A member 2 - ABCA2 - - - - gene with protein product - - - - HGNC - 32 - - - Ensembl - ENSG00000107331 - - - SwissProt - Q9BZC7 - - - OMIM - 600047 - - - IUPHAR - 757 - - - - - 9q34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35202461[PMID] - - choline kinase alpha - CHKA - - CKI - - - gene with protein product - - - - OMIM - 118491 - - - SwissProt - P35790 - - - Ensembl - ENSG00000110721 - - - HGNC - 1937 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35675825[PMID] - - glutamate ionotropic receptor AMPA type subunit 1 - GRIA1 - - GluA1 - GLURA - AMPA receptor subunit GluA1 - Glutamate receptor 1 - - - gene with protein product - - - - HGNC - 4571 - - - Ensembl - ENSG00000155511 - - - SwissProt - P42261 - - - Reactome - P42261 - - - IUPHAR - 444 - - - OMIM - 138248 - - - - - 5q33.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35359234[PMID] - - centrosomal protein 104 - CEP104 - - CFAP256 - GlyBP - JBTS25 - ROC22 - RP1-286D6.4 - glycine, glutamate, thienylcyclohexylpiperidine binding protein - - - gene with protein product - - - - Ensembl - ENSG00000116198 - - - Genatlas - CEP104 - - - HGNC - 24866 - - - OMIM - 616690 - - - SwissProt - O60308 - - - ClinVar - CEP104 - - - - - 1p36.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28051072[PMID] - - glutamate ionotropic receptor NMDA type subunit 1 - GRIN1 - - GluN1 - NR1 - - - gene with protein product - - - - Ensembl - ENSG00000176884 - - - Genatlas - GRIN1 - - - HGNC - 4584 - - - IUPHAR - 455 - - - OMIM - 138249 - - - Reactome - Q05586 - - - SwissProt - Q05586 - - - ClinVar - GRIN1 - - - - - 9q34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26173967[PMID] - - aminoacyl tRNA synthetase complex interacting multifunctional protein 1 - AIMP1 - - ARS-interacting multifunctional protein 1 - EMAP II - EMAP-2 - EMAPII - p43 - multisynthetase complex auxiliary component p43 - - - gene with protein product - - - - Ensembl - ENSG00000164022 - - - Genatlas - AIMP1 - - - HGNC - 10648 - - - OMIM - 603605 - - - Reactome - Q12904 - - - SwissProt - Q12904 - - - ClinVar - AIMP1 - - - - - 4q24 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 33473208[PMID] - - UFM1 specific peptidase 2 - UFSP2 - - FLJ11200 - - - gene with protein product - - - - Ensembl - ENSG00000109775 - - - Genatlas - UFSP2 - - - HGNC - 25640 - - - OMIM - 611482 - - - SwissProt - Q9NUQ7 - - - ClinVar - UFSP2 - - - - - 4q35.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 15557513[PMID] - - cereblon - CRBN - - MRT2 - - - gene with protein product - - - - Ensembl - ENSG00000113851 - - - Genatlas - CRBN - - - HGNC - 30185 - - - OMIM - 609262 - - - SwissProt - Q96SW2 - - - IUPHAR - 3086 - - - ClinVar - CRBN - - - - - 3p26.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21739581[PMID] - - tumor suppressor candidate 3 - TUSC3 - - MGC13453 - MRT7 - N33 - OST3A - oligosaccharyltransferase 3 homolog A (S. cerevisiae) - Magnesium uptake/transporter TUSC3 - MagT2 - SLC58A2 - - - gene with protein product - - - - ClinVar - TUSC3 - - - IUPHAR - 3040 - - - Ensembl - ENSG00000104723 - - - Genatlas - TUSC3 - - - HGNC - 30242 - - - OMIM - 601385 - - - Reactome - Q13454 - - - SwissProt - Q13454 - - - - - 8p22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21212097[PMID] - - trans-2,3-enoyl-CoA reductase - TECR - - very-long-chain enoyl-CoA reductase - MRT14 - TER - - - gene with protein product - - - - ClinVar - TECR - - - Ensembl - ENSG00000099797 - - - Genatlas - TECR - - - HGNC - 4551 - - - OMIM - 610057 - - - Reactome - Q9NZ01 - - - SwissProt - Q9NZ01 - - - - - 19p13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17847003[PMID] - - glutamate ionotropic receptor kainate type subunit 2 - GRIK2 - - excitatory amino acid receptor 4‘ - EAA4 - GluK2 - MRT6 - GLUK6 - excitatory amino acid receptor 4 - GluR-6 - excitatory amino acid receptor 4‘ - - - gene with protein product - - - - ClinVar - GRIK2 - - - Ensembl - ENSG00000164418 - - - Genatlas - GRIK2 - - - HGNC - 4580 - - - IUPHAR - 451 - - - OMIM - 138244 - - - Reactome - Q13002 - - - SwissProt - Q13002 - - - - - 6q16.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 21498477[PMID] - - WASH complex subunit 4 - WASHC4 - - SWIP - strumpellin and WASH-interacting protein - - - gene with protein product - - - - ClinVar - KIAA1033 - - - SwissProt - Q2M389 - - - Ensembl - ENSG00000136051 - - - Genatlas - KIAA1033 - - - HGNC - 29174 - - - OMIM - 615748 - - - - - 12q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20004765[PMID]_20004763[PMID]_20004765[PMID] - - trafficking protein particle complex subunit 9 - TRAPPC9 - - IKBKBBP - KIAA1882 - MRT13 - NIBP - T1 - TRAPP 120 kDa subunit - TRS120 - tularik gene 1 - - - gene with protein product - - - - Ensembl - ENSG00000167632 - - - Genatlas - TRAPPC9 - - - HGNC - 30832 - - - OMIM - 611966 - - - Reactome - Q96Q05 - - - SwissProt - Q96Q05 - - - ClinVar - TRAPPC9 - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 12459588[PMID] - - serine protease 12 - PRSS12 - - BSSP-3 - MRT1 - motopsin - neurotrypsin - brain-specific serine protease 3 - mental retardation, autosomal recessive 1 - - - gene with protein product - - - - Ensembl - ENSG00000164099 - - - Genatlas - PRSS12 - - - HGNC - 9477 - - - OMIM - 606709 - - - SwissProt - P56730 - - - ClinVar - PRSS12 - - - - - 4q26 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21868677[PMID] - - mediator complex subunit 23 - MED23 - - CRSP130 - DRIP130 - Sur2 - - - gene with protein product - - - - Ensembl - ENSG00000112282 - - - Genatlas - MED23 - - - HGNC - 2372 - - - OMIM - 605042 - - - Reactome - Q9ULK4 - - - SwissProt - Q9ULK4 - - - ClinVar - MED23 - - - - - 6q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22279524[PMID] - - CARD and death domain containing adaptor protein - CRADD - - RAIDD - RIP-associated ICH1/CED3-homologous protein with death domain - - - gene with protein product - - - - SwissProt - P78560 - - - Reactome - P78560 - - - Ensembl - ENSG00000169372 - - - Genatlas - CRADD - - - HGNC - 2340 - - - OMIM - 603454 - - - ClinVar - CRADD - - - - - 12q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21734151[PMID] - - zinc finger CCCH-type containing 14 - ZC3H14 - - FLJ11806 - NY-REN-37 - UKp68 - - - gene with protein product - - - - Ensembl - ENSG00000100722 - - - Genatlas - ZC3H14 - - - HGNC - 20509 - - - OMIM - 613279 - - - SwissProt - Q6PJT7 - - - ClinVar - ZC3H14 - - - - - 14q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22541559[PMID]_22541562[PMID] - - NOP2/Sun RNA methyltransferase 2 - NSUN2 - - FLJ20303 - Misu - Myc-induced SUN-domain-containing protein - TRM4 - tRNA methyltransferase 4 homolog (S. cerevisiae) - SAKI - RNA cytosine C(5)-methyltransferase NSUN2 - - - gene with protein product - - - - Ensembl - ENSG00000037474 - - - Genatlas - NSUN2 - - - HGNC - 25994 - - - OMIM - 610916 - - - Reactome - Q08J23 - - - SwissProt - Q08J23 - - - ClinVar - NSUN2 - - - - - 5p15.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23773660[PMID] - - lines homolog 1 - LINS1 - - WINS1 - - - gene with protein product - - - - ClinVar - LINS1 - - - Ensembl - ENSG00000140471 - - - Genatlas - LINS1 - - - HGNC - 30922 - - - OMIM - 610350 - - - SwissProt - Q8NG48 - - - - - 15q26.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24784135[PMID] - - post-GPI attachment to proteins inositol deacylase 1 - PGAP1 - - Bst1 - FLJ12377 - GPI inositol-deacylase - SPG67 - - - gene with protein product - - - - Ensembl - ENSG00000197121 - - - Genatlas - PGAP1 - - - HGNC - 25712 - - - OMIM - 611655 - - - Reactome - Q75T13 - - - SwissProt - Q75T13 - - - ClinVar - PGAP1 - - - - - 2q33.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24626631[PMID] - - methyltransferase 23, arginine - METTL23 - - LOC124512 - - - gene with protein product - - - - ClinVar - METTL23 - - - Ensembl - ENSG00000181038 - - - Genatlas - METTL23 - - - HGNC - 26988 - - - OMIM - 615262 - - - SwissProt - Q86XA0 - - - - - 17q25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24569606[PMID] - - CAP-Gly domain containing linker protein 1 - CLIP1 - - CLIP - CLIP-170 - CLIP170 - CYLN1 - restin - - - gene with protein product - - - - ClinVar - CLIP1 - - - Ensembl - ENSG00000130779 - - - Genatlas - CLIP1 - - - HGNC - 10461 - - - OMIM - 179838 - - - Reactome - P30622 - - - SwissProt - P30622 - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24623383[PMID] - - F-box protein 31 - FBXO31 - - FBX14 - FBXO14 - Fbx31 - MGC15419 - - - gene with protein product - - - - Reactome - Q5XUX0 - - - Ensembl - ENSG00000103264 - - - Genatlas - FBXO31 - - - HGNC - 16510 - - - OMIM - 609102 - - - SwissProt - Q5XUX0 - - - ClinVar - FBXO31 - - - - - 16q24.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25125150[PMID] - - N-deacetylase and N-sulfotransferase 1 - NDST1 - - N-Deacetylase-N-sulfotransferase 1 - NST1 - [Heparan sulfate]-glucosamine N-sulfotransferase 1 - heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase 1 - - - gene with protein product - - - - Ensembl - ENSG00000070614 - - - Genatlas - NDST1 - - - HGNC - 7680 - - - ClinVar - NDST1 - - - OMIM - 600853 - - - Reactome - P52848 - - - SwissProt - P52848 - - - - - 5q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25480035[PMID] - - formin 2 - FMN2 - - - - gene with protein product - - - - ClinVar - FMN2 - - - Ensembl - ENSG00000155816 - - - Genatlas - FMN2 - - - HGNC - 14074 - - - OMIM - 606373 - - - SwissProt - Q9NZ56 - - - - - 1q43 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25701870[PMID] - - enhancer of mRNA decapping 3 - EDC3 - - FLJ21128 - LSM16 - LSM16 homolog (EDC3, S. cerevisiae) - YJEFN2 - hYjeF_N2-15q23 - - - gene with protein product - - - - Ensembl - ENSG00000179151 - - - Genatlas - EDC3 - - - HGNC - 26114 - - - OMIM - 609842 - - - Reactome - Q96F86 - - - SwissProt - Q96F86 - - - ClinVar - EDC3 - - - - - 15q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26206890[PMID] - - histamine N-methyltransferase - HNMT - - HMT - - - gene with protein product - - - - HGNC - 5028 - - - OMIM - 605238 - - - Reactome - P50135 - - - SwissProt - P50135 - - - Ensembl - ENSG00000150540 - - - Genatlas - HNMT - - - ClinVar - HNMT - - - - - 2q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25504542[PMID] - - ezrin - EZR - - cytovillin 2 - - - gene with protein product - - - - Ensembl - ENSG00000092820 - - - Genatlas - EZR - - - HGNC - 12691 - - - OMIM - 123900 - - - Reactome - P15311 - - - SwissProt - P15311 - - - ClinVar - EZR - - - - - 6q25.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 26566883[PMID] - - lectin, mannose binding 2 like - LMAN2L - - VIPL - DKFZp564L2423 - VIP36-like - - - gene with protein product - - - - HGNC - 19263 - - - OMIM - 609552 - - - Genatlas - LMAN2L - - - SwissProt - Q9H0V9 - - - Ensembl - ENSG00000114988 - - - Reactome - Q9H0V9 - - - ClinVar - LMAN2L - - - - - 2q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32934225[PMID] - - nuclear export mediator factor - NEMF - - RQC2 - Ribosome quality control complex subunit NEMF - NY-CO-1 - caliban homolog (Drosophila) - New-York Colon 1 - FLJ10051 - - - gene with protein product - - - - HGNC - 10663 - - - Ensembl - ENSG00000165525 - - - OMIM - 608378 - - - SwissProt - O60524 - - - - - 14q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27435318[PMID] - - glutamate metabotropic receptor 7 - GRM7 - - protein phosphatase 1, regulatory subunit 87 - GLUR7 - MGLUR7 - mGlu7 - PPP1R87 - GPRC1G - - - gene with protein product - - - - HGNC - 4599 - - - Ensembl - ENSG00000196277 - - - OMIM - 604101 - - - IUPHAR - 295 - - - SwissProt - Q14831 - - - - - 3p26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31607425[PMID] - - IQ motif and Sec7 domain ArfGEF 1 - IQSEC1 - - KIAA0763 - GEP100 - ARF-GEP100 - BRAG2 - brefeldin A-resistant ARF-GEF2 - - - gene with protein product - - - - ClinVar - IQSEC1 - - - HGNC - 29112 - - - SwissProt - Q6DN90 - - - Ensembl - ENSG00000144711 - - - Genatlas - IQSEC1 - - - OMIM - 610166 - - - - - 3p25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27106596[PMID] - - TRAF2 and NCK interacting kinase - TNIK - - KIAA0551 - - - gene with protein product - - - - SwissProt - Q9UKE5 - - - Reactome - Q9UKE5 - - - Ensembl - ENSG00000154310 - - - ClinVar - TNIK - - - HGNC - 30765 - - - IUPHAR - 2244 - - - OMIM - 610005 - - - Genatlas - TNIK - - - - - 3q26.2-q26.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 33711248[PMID] - - neurochondrin - NCDN - - NCDN-1 - norbin - NCDN-2 - - - gene with protein product - - - - HGNC - 17597 - - - Ensembl - ENSG00000020129 - - - OMIM - 608458 - - - SwissProt - Q9UBB6 - - - - - 1p34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33420346[PMID] - - ubiquitination factor E4A - UBE4A - - E4 - KIAA0126 - UFD2 - UBOX2 - - - gene with protein product - - - - HGNC - 12499 - - - Ensembl - ENSG00000110344 - - - OMIM - 603753 - - - SwissProt - Q14139 - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 32439809[PMID] - - tetratricopeptide repeat domain 5 - TTC5 - - Strap - Stress-responsive activator of p300 - - - gene with protein product - - - - HGNC - 19274 - - - SwissProt - Q8N0Z6 - - - Ensembl - ENSG00000136319 - - - OMIM - 619014 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 27694521[PMID] - - phosphatidylinositol glycan anchor biosynthesis class C - PIGC - - phosphatidylinositol N-acetylglucosaminyltransferase subunit C - GPI2 - PIG-C - - - gene with protein product - - - - HGNC - 8960 - - - Ensembl - ENSG00000135845 - - - SwissProt - Q92535 - - - OMIM - 601730 - - - Genatlas - PIGC - - - Reactome - Q92535 - - - ClinVar - PIGC - - - - - 1q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28434495[PMID] - - solute carrier family 45 member 1 - SLC45A1 - - H+/sugar symporter - - - gene with protein product - - - - IUPHAR - 1209 - - - HGNC - 17939 - - - Ensembl - ENSG00000162426 - - - SwissProt - Q9Y2W3 - - - OMIM - 605763 - - - Genatlas - SLC45A1 - - - ClinVar - SLC45A1 - - - - - 1p36.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33963192[PMID] - - gem nuclear organelle associated protein 5 - GEMIN5 - - - - gene with protein product - - - - OMIM - 607005 - - - SwissProt - Q8TEQ6 - - - Ensembl - ENSG00000082516 - - - HGNC - 20043 - - - - - 5q33.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 28675162[PMID] - - ferric chelate reductase 1 like - FRRS1L - - CG-6 - - - gene with protein product - - - - ClinVar - FRRS1L - - - OMIM - 604574 - - - Genatlas - FRRS1L - - - HGNC - 1362 - - - Ensembl - ENSG00000260230 - - - SwissProt - Q9P0K9 - - - - - 9q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31079898[PMID] - - alkB homolog 8, tRNA methyltransferase - ALKBH8 - - MGC10235 - TRM9 - TRMT9A - tRNA methyltransferase 9 related - - - gene with protein product - - - - HGNC - 25189 - - - SwissProt - Q96BT7 - - - Ensembl - ENSG00000137760 - - - OMIM - 613306 - - - - - 11q22.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 27616480[PMID] - - membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 - MBOAT7 - - lysophospholipid acyltransferase 7 - Bladder and breast carcinoma-overexpressed gene 1 - BB1 - hMBOA-7 - LPIAT - lysophosphatidylinositol acyltransferase - LPLAT - lysophospholipid acyltransferase 11 - LPIAT1 - LPLAT11 - lysophosphatidylinositol acyltransferase 1 - - - gene with protein product - - - - HGNC - 15505 - - - SwissProt - Q96N66 - - - Reactome - Q96N66 - - - Ensembl - ENSG00000125505 - - - ClinVar - MBOAT7 - - - OMIM - 606048 - - - Genatlas - MBOAT7 - - - - - 19q13.42 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 27311568[PMID] - - FERRY endosomal RAB5 effector complex subunit 3 - FERRY3 - - Fy-3 - - - gene with protein product - - - - ClinVar - C12orf4 - - - HGNC - 1184 - - - Ensembl - ENSG00000047621 - - - OMIM - 616082 - - - SwissProt - Q9NQ89 - - - Genatlas - C12orf4 - - - - - 12p13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28236339[PMID] - - seryl-tRNA synthetase 1 - SARS1 - - serine tRNA ligase 1, cytoplasmic - SERS - - - gene with protein product - - - - ClinVar - SARS - - - HGNC - 10537 - - - Ensembl - ENSG00000031698 - - - SwissProt - P49591 - - - OMIM - 607529 - - - Genatlas - SARS - - - Reactome - P49591 - - - - - 1p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28640246[PMID]_29522154[PMID] - - arginine and serine rich coiled-coil 1 - RSRC1 - - SRrp53 - SFRS21 - MGC12197 - BM-011 - splicing factor, arginine/serine-rich 21 - - - gene with protein product - - - - SwissProt - Q96IZ7 - - - HGNC - 24152 - - - Ensembl - ENSG00000174891 - - - OMIM - 613352 - - - - - 3q25.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25527630[PMID] - - mediator complex subunit 25 - MED25 - - ACID1 - ARC92 - DKFZp434K0512 - TCBAP0758 - - - gene with protein product - - - - ClinVar - MED25 - - - Ensembl - ENSG00000104973 - - - Genatlas - MED25 - - - HGNC - 28845 - - - OMIM - 610197 - - - Reactome - Q71SY5 - - - SwissProt - Q71SY5 - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34230638[PMID] - - N-alpha-acetyltransferase 20, NatB catalytic subunit - NAA20 - - N-acetyltransferase 3 homolog (S. cerevisiae) - NAT3 - dJ1002M8.1 - - - gene with protein product - - - - HGNC - 15908 - - - Ensembl - ENSG00000173418 - - - OMIM - 610833 - - - SwissProt - P61599 - - - - - 20p11.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 16033914[PMID] - - coiled-coil and C2 domain containing 1A - CC2D1A - - Five prime repressor element under dual repression-binding protein 1 - FLJ20241 - MRT3 - mental retardation, nonsyndromic, autosomal recessive, 3 - Freud-1 - lethal (2) giant discs homolog 2 - TAPE - TBK1-associated protein in endolysosomes - Aki-1 - Akt Kinase-Interacting Protein 1 - Lgd2 - - - gene with protein product - - - - Ensembl - ENSG00000132024 - - - Genatlas - CC2D1A - - - HGNC - 30237 - - - OMIM - 610055 - - - SwissProt - Q6P1N0 - - - ClinVar - CC2D1A - - - - - 19p13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21763484[PMID] - - mannosidase alpha class 1B member 1 - MAN1B1 - - endoplasmic Reticulum Class I alpha-mannosidase - ERMan1 - Alpha 1,2-mannosidase - ER alpha 1,2-mannosidase - ERManI - Endoplasmic reticulum alpha-mannosidase 1 - Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1 - MANA-ER - MRT15 - Man9GlcNAc2-specific processing alpha-mannosidase - alpha 1,2-mannosidase - endoplasmic reticulum alpha-mannosidase 1 - endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1 - - - gene with protein product - - - - Ensembl - ENSG00000177239 - - - Genatlas - MAN1B1 - - - HGNC - 6823 - - - OMIM - 604346 - - - Reactome - Q9UKM7 - - - SwissProt - Q9UKM7 - - - ClinVar - MAN1B1 - - - - - 9q34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34494102[PMID] - - translocated promoter region, nuclear basket protein - TPR - - - - gene with protein product - - - - Ensembl - ENSG00000047410 - - - Genatlas - TPR - - - HGNC - 12017 - - - OMIM - 189940 - - - Reactome - P12270 - - - SwissProt - P12270 - - - ClinVar - TPR - - - - - 1q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29276005[PMID] - - lysine demethylase 5B - KDM5B - - RBBP2H1A - PLU-1 - PPP1R98 - CT31 - protein phosphatase 1, regulatory subunit 98 - cancer/testis antigen 31 - - - gene with protein product - - - - HGNC - 18039 - - - ClinVar - KDM5B - - - OMIM - 605393 - - - Ensembl - ENSG00000117139 - - - Reactome - Q9UGL1 - - - IUPHAR - 2681 - - - SwissProt - Q9UGL1 - - - Genatlas - KDM5B - - - - - 1q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35015920[PMID] - - eukaryotic translation elongation factor 1 beta 2 - EEF1B2 - - - - gene with protein product - - - - HGNC - 3208 - - - Ensembl - ENSG00000114942 - - - SwissProt - P24534 - - - OMIM - 600655 - - - - - 2q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 87503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87503 - Mal de Meleda - - Disease - - - Disorder - - - - 12483299[PMID]_20854438[PMID] - - secreted LY6/PLAUR domain containing 1 - SLURP1 - - ArsB - LY6LS - MDM - lymphocyte antigen 6-like secreted - ANUP - ARS - ARS component B - LY6-MT - - - gene with protein product - - - - Ensembl - ENSG00000126233 - - - Genatlas - SLURP1 - - - ClinVar - SLURP1 - - - HGNC - 18746 - - - OMIM - 606119 - - - SwissProt - P55000 - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 86920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86920 - Dermatopathia pigmentosa reticularis - - Disease - - - Disorder - - - - 16960809[PMID] - - keratin 14 - KRT14 - - epidermolysis bullosa simplex, Dowling-Meara, Koebner - - - gene with protein product - - - - ClinVar - KRT14 - - - Genatlas - KRT14 - - - HGNC - 6416 - - - OMIM - 148066 - - - Reactome - P02533 - - - SwissProt - P02533 - - - Ensembl - ENSG00000186847 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 522077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522077 - Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome - - Disease - - - Disorder - - - - 25705886[PMID]_30107533[PMID] - - synaptotagmin 1 - SYT1 - - P65 - - - gene with protein product - - - - Genatlas - SYT1 - - - OMIM - 185605 - - - SwissProt - P21579 - - - Reactome - P21579 - - - HGNC - 11509 - - - ClinVar - SYT1 - - - Ensembl - ENSG00000067715 - - - - - 12q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 86911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86911 - Epilepsy with myoclonic absences - - Disease - - - Disorder - - - - 26193382[PMID] - - solute carrier family 2 member 1 - SLC2A1 - - DYT18 - DYT9 - GLUT-1 - dystonia gene 18 - dystonia gene 9 - - - gene with protein product - - - - ClinVar - SLC2A1 - - - IUPHAR - 875 - - - Ensembl - ENSG00000117394 - - - Genatlas - SLC2A1 - - - HGNC - 11005 - - - OMIM - 138140 - - - Reactome - P11166 - - - SwissProt - P11166 - - - - - 1p34.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 521450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521450 - LAMA5-related multisystemic syndrome - - Disease - - - Disorder - - - - 28735299[PMID] - - laminin subunit alpha 5 - LAMA5 - - laminin alpha5-chain - - - gene with protein product - - - - HGNC - 6485 - - - ClinVar - LAMA5 - - - Reactome - O15230 - - - SwissProt - O15230 - - - OMIM - 601033 - - - Genatlas - LAMA5 - - - Ensembl - ENSG00000130702 - - - - - 20q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 521445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521445 - Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome - - Malformation syndrome - - - Disorder - - - - 28722276[PMID] - - ADAMTS like 1 - ADAMTSL1 - - ADAMTSR1 - FLJ35283 - punctin - punctin-1 - - - gene with protein product - - - - HGNC - 14632 - - - Ensembl - ENSG00000178031 - - - SwissProt - Q8N6G6 - - - Reactome - Q8N6G6 - - - OMIM - 609198 - - - - - 9p22.2-p22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 521438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521438 - Congenital vertebral-cardiac-renal anomalies syndrome - - Malformation syndrome - - - Disorder - - - - 28792876[PMID] - - kynureninase - KYNU - - L-kynurenine hydrolase - - - gene with protein product - - - - Ensembl - ENSG00000115919 - - - Genatlas - KYNU - - - HGNC - 6469 - - - OMIM - 605197 - - - Reactome - Q16719 - - - SwissProt - Q16719 - - - ClinVar - KYNU - - - - - 2q22.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 31883644[PMID] - - NAD synthetase 1 - NADSYN1 - - FLJ10631 - - - gene with protein product - - - - HGNC - 29832 - - - Ensembl - ENSG00000172890 - - - SwissProt - Q6IA69 - - - Reactome - Q6IA69 - - - OMIM - 608285 - - - - - 11q13.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28792876[PMID] - - 3-hydroxyanthranilate 3,4-dioxygenase - HAAO - - HAO - 3-HAO - 3-hydroxyanthranilic-acid dioxygenase - - - gene with protein product - - - - HGNC - 4796 - - - Ensembl - ENSG00000162882 - - - SwissProt - P46952 - - - Reactome - P46952 - - - OMIM - 604521 - - - - - 2p21 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 521432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521432 - Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome - - Disease - - - Disorder - - - - 27878435[PMID] - - cytochrome P450 family 51 subfamily A member 1 - CYP51A1 - - CP51 - CYPL1 - P450L1 - LDM - P450-14DM - - - gene with protein product - - - - Ensembl - ENSG00000001630 - - - SwissProt - Q16850 - - - OMIM - 601637 - - - HGNC - 2649 - - - IUPHAR - 1374 - - - Reactome - Q16850 - - - - - 7q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 521426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521426 - PLAA-associated neurodevelopmental disorder - - Malformation syndrome - - - Disorder - - - - 28007986[PMID]_28413018[PMID] - - phospholipase A2 activating protein - PLAA - - FLJ12699 - PLAP - PLA2P - DOA1 - DOA1 homolog (S. cerevisiae) - FLJ11281 - - - gene with protein product - - - - HGNC - 9043 - - - SwissProt - Q9Y263 - - - Ensembl - ENSG00000137055 - - - OMIM - 603873 - - - - - 9p21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 521414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521414 - Autosomal dominant Charcot-Marie-Tooth disease type 2DD - - Disease - - - Disorder - - - - 29499166[PMID] - - ATPase Na+/K+ transporting subunit alpha 1 - ATP1A1 - - sodium pump subunit alpha-1 - sodium-potassium ATPase catalytic subunit alpha-1 - sodium/potassium-transporting ATPase subunit alpha-1 - - - gene with protein product - - - - IUPHAR - 833 - - - OMIM - 182310 - - - Reactome - P05023 - - - SwissProt - P05023 - - - ClinVar - ATP1A1 - - - Ensembl - ENSG00000163399 - - - Genatlas - ATP1A1 - - - HGNC - 799 - - - - - 1p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 521258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521258 - Xq25 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - 25677961[PMID]_26443594[PMID] - - STAG2 cohesin complex component - STAG2 - - sister chromatid cohesion 3 homolog (S. cerevisiae) B - SA2 stromalin - SA2 - SCC3B - SA-2 - Cohesin subunit SA-2 - - - gene with protein product - - - - Genatlas - STAG2 - - - OMIM - 300826 - - - SwissProt - Q8N3U4 - - - ClinVar - STAG2 - - - Ensembl - ENSG00000101972 - - - Reactome - Q8N3U4 - - - HGNC - 11355 - - - - - Xq25 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 521305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521305 - Proximal myopathy with focal depletion of mitochondria - - Disease - - - Disorder - - - - 26782016[PMID]_27169979[PMID] - - choline kinase beta - CHKB - - CHETK - - - gene with protein product - - - - ClinVar - CHKB - - - Ensembl - ENSG00000100288 - - - Genatlas - CHKB - - - HGNC - 1938 - - - OMIM - 612395 - - - Reactome - Q9Y259 - - - SwissProt - Q9Y259 - - - - - 22q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 521390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521390 - Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome - - Malformation syndrome - - - Disorder - - - - 27005418[PMID] - - kinase D interacting substrate 220 - KIDINS220 - - ankyrin repeat-rich membrane-spanning protein - ARMS - - - gene with protein product - - - - Genatlas - KIDINS220 - - - HGNC - 29508 - - - ClinVar - KIDINS220 - - - Reactome - Q9ULH0 - - - SwissProt - Q9ULH0 - - - OMIM - 615759 - - - Ensembl - ENSG00000134313 - - - - - 2p25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 521406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521406 - Dystonia-parkinsonism-hypermanganesemia syndrome - - Disease - - - Disorder - - - - 29382362[PMID]_29685658[PMID]_27231142[PMID] - - solute carrier family 39 member 14 - SLC39A14 - - Metal cation symporter ZIP14 - KIAA0062 - NET34 - ZIP14 - ZIP-14 - ZRT/IRT-like protein 14 - zinc transporter 14 - - - gene with protein product - - - - HGNC - 20858 - - - Ensembl - ENSG00000104635 - - - SwissProt - Q15043 - - - Reactome - Q15043 - - - OMIM - 608736 - - - IUPHAR - 1193 - - - - - 8p21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 89838 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89838 - Autosomal recessive generalized epidermolysis bullosa simplex - - Disease - - - Disorder - - - - 7526933[PMID] - - keratin 14 - KRT14 - - epidermolysis bullosa simplex, Dowling-Meara, Koebner - - - gene with protein product - - - - ClinVar - KRT14 - - - Genatlas - KRT14 - - - HGNC - 6416 - - - OMIM - 148066 - - - Reactome - P02533 - - - SwissProt - P02533 - - - Ensembl - ENSG00000186847 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 521411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521411 - Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect - - Disease - - - Disorder - - - - 29351582[PMID] - - synthesis of cytochrome C oxidase 2 - SCO2 - - SCO1L - - - gene with protein product - - - - ClinVar - SCO2 - - - Genatlas - SCO2 - - - HGNC - 10604 - - - Ensembl - ENSG00000284194 - - - OMIM - 604272 - - - Reactome - O43819 - - - SwissProt - O43819 - - - - - 22q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 88949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88949 - MUC1-related autosomal dominant tubulointerstitial kidney disease - - Clinical subtype - - - Subtype of disorder - - - - 23396133[PMID]_24509297[PMID] - - mucin 1, cell surface associated - MUC1 - - KL-6 - Ca15-3 - EMA - epithelial membrane antigen - ADMCKD - ADMCKD1 - CD227 - MCD - MCKD - PEM - - - gene with protein product - - - - ClinVar - MUC1 - - - Ensembl - ENSG00000185499 - - - Genatlas - MUC1 - - - HGNC - 7508 - - - OMIM - 158340 - - - Reactome - P15941 - - - SwissProt - P15941 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 88950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88950 - UMOD-related autosomal dominant tubulointerstitial kidney disease - - Clinical subtype - - - Subtype of disorder - - - - 20301530[PMID] - - uromodulin - UMOD - - Tamm-Horsfall glycoprotein - uromucoid - - - gene with protein product - - - - Reactome - P07911 - - - Ensembl - ENSG00000169344 - - - Genatlas - UMOD - - - HGNC - 12559 - - - OMIM - 191845 - - - SwissProt - P07911 - - - ClinVar - UMOD - - - - - 16p12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 88940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88940 - Pseudohypoaldosteronism type 2C - - Etiological subtype - - - Subtype of disorder - - - - 22073419[PMID] - - WNK lysine deficient protein kinase 1 - WNK1 - - HSAN2 - PPP1R167 - protein phosphatase 1, regulatory subunit 167 - - - gene with protein product - - - - ClinVar - WNK1 - - - Ensembl - ENSG00000060237 - - - Genatlas - WNK1 - - - HGNC - 14540 - - - IUPHAR - 2280 - - - OMIM - 605232 - - - Reactome - Q9H4A3 - - - SwissProt - Q9H4A3 - - - - - 12p13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 88939 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88939 - Pseudohypoaldosteronism type 2B - - Etiological subtype - - - Subtype of disorder - - - - 22073419[PMID] - - WNK lysine deficient protein kinase 4 - WNK4 - - - - gene with protein product - - - - ClinVar - WNK4 - - - Ensembl - ENSG00000126562 - - - Genatlas - WNK4 - - - HGNC - 14544 - - - IUPHAR - 2283 - - - OMIM - 601844 - - - Reactome - Q96J92 - - - SwissProt - Q96J92 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 88924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88924 - Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis - - Disease - - - Disorder - - - - 15007723[PMID]_22169896[PMID] - - TSC complex subunit 2 - TSC2 - - LAM - PPP1R160 - protein phosphatase 1, regulatory subunit 160 - tuberin - - - gene with protein product - - - - OMIM - 191092 - - - Reactome - P49815 - - - SwissProt - P49815 - - - ClinVar - TSC2 - - - Ensembl - ENSG00000103197 - - - Genatlas - TSC2 - - - HGNC - 12363 - - - - - 16p13.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 15007723[PMID]_22169896[PMID] - - polycystin 1, transient receptor potential channel interacting - PKD1 - - PBP - Pc-1 - TRPP1 - polycystin 1 - transient receptor potential cation channel, subfamily P, member 1 - - - gene with protein product - - - - Ensembl - ENSG00000008710 - - - Genatlas - PKD1 - - - HGNC - 9008 - - - OMIM - 601313 - - - Reactome - P98161 - - - SwissProt - P98161 - - - ClinVar - PKD1 - - - - - 16p13.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 88918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88918 - Autosomal dominant Alport syndrome - - Clinical subtype - - - Subtype of disorder - - - - 20301386[PMID] - - collagen type IV alpha 3 chain - COL4A3 - - tumstatin - - - gene with protein product - - - - ClinVar - COL4A3 - - - Ensembl - ENSG00000169031 - - - Genatlas - COL4A3 - - - HGNC - 2204 - - - OMIM - 120070 - - - Reactome - Q01955 - - - SwissProt - Q01955 - - - - - 2q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 9269635[PMID]_20301386[PMID]_15086897[PMID]_11572889[PMID]_19129241[PMID] - - collagen type IV alpha 4 chain - COL4A4 - - CA44 - collagen of basement membrane, alpha-4 chain - - - gene with protein product - - - - ClinVar - COL4A4 - - - Ensembl - ENSG00000081052 - - - Genatlas - COL4A4 - - - HGNC - 2206 - - - OMIM - 120131 - - - Reactome - P53420 - - - SwissProt - P53420 - - - - - 2q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 88919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88919 - Autosomal recessive Alport syndrome - - Clinical subtype - - - Subtype of disorder - - - - 20301386[PMID] - - collagen type IV alpha 3 chain - COL4A3 - - tumstatin - - - gene with protein product - - - - ClinVar - COL4A3 - - - Ensembl - ENSG00000169031 - - - Genatlas - COL4A3 - - - HGNC - 2204 - - - OMIM - 120070 - - - Reactome - Q01955 - - - SwissProt - Q01955 - - - - - 2q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301386[PMID] - - collagen type IV alpha 4 chain - COL4A4 - - CA44 - collagen of basement membrane, alpha-4 chain - - - gene with protein product - - - - ClinVar - COL4A4 - - - Ensembl - ENSG00000081052 - - - Genatlas - COL4A4 - - - HGNC - 2206 - - - OMIM - 120131 - - - Reactome - P53420 - - - SwissProt - P53420 - - - - - 2q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 88917 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88917 - X-linked Alport syndrome - - Clinical subtype - - - Subtype of disorder - - - - 20301386[PMID] - - collagen type IV alpha 5 chain - COL4A5 - - - - gene with protein product - - - - ClinVar - COL4A5 - - - Ensembl - ENSG00000188153 - - - Genatlas - COL4A5 - - - HGNC - 2207 - - - OMIM - 303630 - - - Reactome - P29400 - - - SwissProt - P29400 - - - - - Xq22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93256 - Fragile X-associated tremor/ataxia syndrome - - Malformation syndrome - - - Disorder - - - - - - fragile X messenger ribonucleoprotein 1 - FMR1 - - FMRP - FRAXA - MGC87458 - - - gene with protein product - - - - Ensembl - ENSG00000102081 - - - Genatlas - FMR1 - - - HGNC - 3775 - - - OMIM - 309550 - - - SwissProt - Q06787 - - - ClinVar - FMR1 - - - - - Xq27.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 528105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528105 - Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome - - Disease - - - Disorder - - - - 28674042[PMID] - - claudin 10 - CLDN10 - - CPETRL3 - OSP-L - - - gene with protein product - - - - SwissProt - P78369 - - - OMIM - 617579 - - - HGNC - 2033 - - - Ensembl - ENSG00000134873 - - - Genatlas - CLDN10 - - - Reactome - P78369 - - - ClinVar - CLDN10 - - - - - 13q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 528091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528091 - Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome - - Disease - - - Disorder - - - - 26537577[PMID] - - leucyl-tRNA synthetase 2, mitochondrial - LARS2 - - KIAA0028 - LEURS - Leucine tRNA ligase 2, mitochondrial - MGC26121 - mtLeuRS - leucine tRNA ligase 2, mitochondrial - - - gene with protein product - - - - ClinVar - LARS2 - - - Ensembl - ENSG00000011376 - - - Genatlas - LARS2 - - - HGNC - 17095 - - - OMIM - 604544 - - - Reactome - Q15031 - - - SwissProt - Q15031 - - - - - 3p21.31 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 528084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528084 - Non-specific syndromic intellectual disability - - Disease - - - Disorder - - - - 30639322[PMID] - - zinc finger MIZ-type containing 1 - ZMIZ1 - - RP11-519K18.1 - KIAA1224 - FLJ13541 - hZIMP10 - MIZ - Zimp10 - - - gene with protein product - - - - HGNC - 16493 - - - Ensembl - ENSG00000108175 - - - SwissProt - Q9ULJ6 - - - OMIM - 607159 - - - - - 10q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30778726[PMID] - - pseudouridine synthase 7 - PUS7 - - FLJ20485 - - - gene with protein product - - - - HGNC - 26033 - - - Ensembl - ENSG00000091127 - - - OMIM - 616261 - - - SwissProt - Q96PZ0 - - - - - 7q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30690204[PMID] - - trafficking protein particle complex subunit 4 - TRAPPC4 - - TRS23 - SBDN - PTD009 - - - gene with protein product - - - - HGNC - 19943 - - - Ensembl - ENSG00000196655 - - - SwissProt - Q9Y296 - - - Reactome - Q9Y296 - - - OMIM - 610971 - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35045343[PMID] - - mannosidase alpha class 2C member 1 - MAN2C1 - - cytosolic a-mannosidase - Alpha-mannosidase 2C1 - cytosolic alpha-mannosidase - - - gene with protein product - - - - HGNC - 6827 - - - Ensembl - ENSG00000140400 - - - SwissProt - Q9NTJ4 - - - Reactome - Q9NTJ4 - - - OMIM - 154580 - - - - - 15q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35051358[PMID] - - BRCA1 associated deubiquitinase 1 - BAP1 - - KIAA0272 - UCHL2 - hucep-6 - ubiquitin carboxy-terminal hydrolase L2 - - - gene with protein product - - - - Reactome - Q92560 - - - Ensembl - ENSG00000163930 - - - Genatlas - BAP1 - - - HGNC - 950 - - - IUPHAR - 2332 - - - OMIM - 603089 - - - SwissProt - Q92560 - - - ClinVar - BAP1 - - - - - 3p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28251352[PMID] - - thyroid hormone receptor interactor 12 - TRIP12 - - KIAA0045 - TRIPC - ULF - E3 ubiquitin-protein ligase for Arf - - - gene with protein product - - - - HGNC - 12306 - - - Genatlas - TRIP12 - - - ClinVar - TRIP12 - - - SwissProt - Q14669 - - - OMIM - 604506 - - - Ensembl - ENSG00000153827 - - - Reactome - Q14669 - - - - - 2q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33397746[PMID] - - zinc finger protein 526 - ZNF526 - - MGC4267 - KIAA1951 - - - gene with protein product - - - - Genatlas - ZNF526 - - - ClinVar - ZNF526 - - - Ensembl - ENSG00000167625 - - - HGNC - 29415 - - - SwissProt - Q8TF50 - - - Reactome - Q8TF50 - - - OMIM - 614387 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30941876[PMID] - - BCL6 corepressor like 1 - BCORL1 - - BCoR-L1 - FLJ11362 - - - gene with protein product - - - - SwissProt - Q5H9F3 - - - ClinVar - BCORL1 - - - Genatlas - BCORL1 - - - OMIM - 300688 - - - Ensembl - ENSG00000085185 - - - HGNC - 25657 - - - - - Xq26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33944996[PMID] - - chromodomain helicase DNA binding protein 5 - CHD5 - - - - gene with protein product - - - - Genatlas - CHD5 - - - HGNC - 16816 - - - OMIM - 610771 - - - SwissProt - Q8TDI0 - - - ClinVar - CHD5 - - - Ensembl - ENSG00000116254 - - - - - 1p36.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 18523455[PMID] - - p21 (RAC1) activated kinase 3 - PAK3 - - bPAK - hPAK3 - - - gene with protein product - - - - ClinVar - PAK3 - - - Ensembl - ENSG00000077264 - - - Genatlas - PAK3 - - - HGNC - 8592 - - - IUPHAR - 2135 - - - OMIM - 300142 - - - Reactome - O75914 - - - SwissProt - O75914 - - - - - Xq23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 36414205[PMID] - - bromodomain and WD repeat domain containing 3 - BRWD3 - - Bromo Domain-Containing Protein Disrupted In Leukemia - FLJ38568 - MRX93 - BRODL - - - gene with protein product - - - - ClinVar - BRWD3 - - - IUPHAR - 2775 - - - Ensembl - ENSG00000165288 - - - Genatlas - BRWD3 - - - HGNC - 17342 - - - OMIM - 300553 - - - SwissProt - Q6RI45 - - - - - Xq21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29288087[PMID]_30268909[PMID] - - T-box brain transcription factor 1 - TBR1 - - - - gene with protein product - - - - Genatlas - TBR1 - - - SwissProt - Q16650 - - - OMIM - 604616 - - - HGNC - 11590 - - - Ensembl - ENSG00000136535 - - - ClinVar - TBR1 - - - - - 2q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34930816[PMID] - - argonaute RISC component 1 - AGO1 - - hAGO1 - argonaute 1 - - - gene with protein product - - - - Genatlas - AGO1 - - - OMIM - 606228 - - - Ensembl - ENSG00000092847 - - - SwissProt - Q9UL18 - - - ClinVar - AGO1 - - - Reactome - Q9UL18 - - - HGNC - 3262 - - - - - 1p34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31079897[PMID] - - lysine methyltransferase 2E (inactive) - KMT2E - - SETD5B - HDCMC04P - - - gene with protein product - - - - HGNC - 18541 - - - Ensembl - ENSG00000005483 - - - SwissProt - Q8IZD2 - - - Reactome - Q8IZD2 - - - IUPHAR - 2692 - - - OMIM - 608444 - - - - - 7q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30607023[PMID] - - small vasohibin binding protein - SVBP - - MGC45441 - - - gene with protein product - - - - HGNC - 29204 - - - Ensembl - ENSG00000177868 - - - SwissProt - Q8N300 - - - OMIM - 617853 - - - - - 1p34.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 36976648[PMID] - - ceramide transporter 1 - CERT1 - - GPBP - STARD11 - CERT - ceramide transporter - StAR-related lipid transfer (START) domain containing 11 - - - gene with protein product - - - - HGNC - 2205 - - - SwissProt - Q9Y5P4 - - - Reactome - Q9Y5P4 - - - OMIM - 604677 - - - Ensembl - ENSG00000113163 - - - - - 5q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31402090[PMID] - - F-box and WD repeat domain containing 11 - FBXW11 - - Hos - KIAA0696 - Fbw1b - BTRCP2 - BTRC2 - Fbw11 - - - gene with protein product - - - - HGNC - 13607 - - - Ensembl - ENSG00000072803 - - - SwissProt - Q9UKB1 - - - Reactome - Q9UKB1 - - - OMIM - 605651 - - - - - 5q35.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33909992[PMID] - - ankyrin repeat domain 17 - ANKRD17 - - GTAR - KIAA0697 - NY-BR-16 - MASK2 - FLJ22206 - - - gene with protein product - - - - Ensembl - ENSG00000132466 - - - OMIM - 615929 - - - SwissProt - O75179 - - - HGNC - 23575 - - - - - 4q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33531666[PMID] - - ER membrane protein complex subunit 10 - EMC10 - - INM02 - HSS1 - hematopoietic signal peptide-containing secreted 1 - HSM1 - hematopoietic signal peptide-containing membrane domain-containing 1 - - - gene with protein product - - - - Ensembl - ENSG00000161671 - - - OMIM - 614545 - - - SwissProt - Q5UCC4 - - - HGNC - 27609 - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34211179[PMID] - - spectrin beta, non-erythrocytic 1 - SPTBN1 - - Fodrin beta chain - Beta-II spectrin - - - gene with protein product - - - - Ensembl - ENSG00000115306 - - - OMIM - 182790 - - - SwissProt - Q01082 - - - HGNC - 11275 - - - - - 2p16.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32820033[PMID] - - LMBR1 domain containing 2 - LMBRD2 - - DKFZp434H2226 - - - gene with protein product - - - - OMIM - 619490 - - - Ensembl - ENSG00000164187 - - - SwissProt - Q68DH5 - - - HGNC - 25287 - - - - - 5p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30289604[PMID] - - tRNA methyltransferase 1 - TRMT1 - - FLJ20244 - TRM1 - - - gene with protein product - - - - HGNC - 25980 - - - Ensembl - ENSG00000104907 - - - SwissProt - Q9NXH9 - - - Reactome - Q9NXH9 - - - OMIM - 611669 - - - - - 19p13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32553196[PMID] - - CCR4-NOT transcription complex subunit 1 - CNOT1 - - CDC39 - NOT1H - KIAA1007 - AD-005 - - - gene with protein product - - - - HGNC - 7877 - - - Ensembl - ENSG00000125107 - - - SwissProt - A5YKK6 - - - Reactome - A5YKK6 - - - OMIM - 604917 - - - - - 16q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30905399[PMID] - - cyclin dependent kinase 8 - CDK8 - - K35 - - - gene with protein product - - - - HGNC - 1779 - - - OMIM - 603184 - - - IUPHAR - 1980 - - - SwissProt - P49336 - - - Ensembl - ENSG00000132964 - - - - - 13q12.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33979636[PMID] - - phosphoglucomutase 2 like 1 - PGM2L1 - - BM32A - FLJ32029 - glucose-1,6-bisphosphate synthase - - - gene with protein product - - - - HGNC - 20898 - - - Ensembl - ENSG00000165434 - - - OMIM - 611610 - - - SwissProt - Q6PCE3 - - - - - 11q13.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35499524[PMID]_35717577[PMID] - - CTR9 homolog, Paf1/RNA polymerase II complex component - CTR9 - - KIAA0155 - p150TSP - TSBP - - - gene with protein product - - - - Ensembl - ENSG00000198730 - - - OMIM - 609366 - - - SwissProt - Q6PD62 - - - HGNC - 16850 - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30500825[PMID] - - RAS like proto-oncogene A - RALA - - ras related GTP binding protein A - Ras-related protein Ral-A - RAS-like protein A - Ras family small GTP binding protein RALA - - - gene with protein product - - - - Ensembl - ENSG00000006451 - - - OMIM - 179550 - - - SwissProt - P11233 - - - HGNC - 9839 - - - - - 7p14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32197073[PMID] - - NOVA alternative splicing regulator 2 - NOVA2 - - neuro-oncological ventral antigen 3 - NOVA-2 - astrocytic NOVA1-like - ANOVA - - - gene with protein product - - - - Ensembl - ENSG00000104967 - - - OMIM - 601991 - - - SwissProt - Q9UNW9 - - - HGNC - 7887 - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20385823[PMID]_30537371[PMID] - - heterogeneous nuclear ribonucleoprotein C - HNRNPC - - - - gene with protein product - - - - HGNC - 5035 - - - OMIM - 164020 - - - SwissProt - P07910 - - - Ensembl - ENSG00000092199 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33833240[PMID] - - ATPase H+ transporting V0 subunit a1 - ATP6V0A1 - - Vph1 - Stv1 - a1 - V-ATPase subunit a1 - vacuolar proton pump subunit 1 - - - gene with protein product - - - - OMIM - 192130 - - - SwissProt - Q93050 - - - Ensembl - ENSG00000033627 - - - HGNC - 865 - - - IUPHAR - 823 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35904126[PMID] - - TATA-box binding protein associated factor 4 - TAF4 - - TAFII130 - TAFII135 - - - gene with protein product - - - - HGNC - 11537 - - - Ensembl - ENSG00000130699 - - - OMIM - 601796 - - - SwissProt - O00268 - - - - - 20q13.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 36528028[PMID] - - eukaryotic translation initiation factor 4A2 - EIF4A2 - - DDX2B - EIF4A - BM-010 - - - gene with protein product - - - - HGNC - 3284 - - - Ensembl - ENSG00000156976 - - - OMIM - 601102 - - - SwissProt - Q14240 - - - - - 3q27.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 32730804[PMID] - - SR-related CTD associated factor 4 - SCAF4 - - DKFZp434E098 - KIAA1172 - SRA4 - - - gene with protein product - - - - HGNC - 19304 - - - Ensembl - ENSG00000156304 - - - OMIM - 616023 - - - SwissProt - O95104 - - - - - 21q22.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 35979925[PMID] - - cell cycle associated protein 1 - CAPRIN1 - - caprin-1 - RNG105 - cytoplasmic activation/proliferation-associated protein-1 - - - gene with protein product - - - - HGNC - 6743 - - - OMIM - 601178 - - - SwissProt - Q14444 - - - Reactome - Q14444 - - - Ensembl - ENSG00000135387 - - - - - 11p13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 36531959[PMID] - - protein phosphatase 2 catalytic subunit alpha - PPP2CA - - protein phosphatase 2A catalytic subunit, alpha isoform - PP2AC - PP2Calpha - - - gene with protein product - - - - HGNC - 9299 - - - Ensembl - ENSG00000113575 - - - SwissProt - P67775 - - - OMIM - 176915 - - - IUPHAR - 3263 - - - - - 5q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33824500[PMID] - - transmembrane protein 222 - TMEM222 - - DKFZP564D0478 - - - gene with protein product - - - - HGNC - 25363 - - - Ensembl - ENSG00000186501 - - - OMIM - 619469 - - - SwissProt - Q9H0R3 - - - - - 1p36.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33131077[PMID] - - OTU deubiquitinase 5 - OTUD5 - - deubiquitinase A - DUBA - DKFZp761A052 - - - gene with protein product - - - - HGNC - 25402 - - - Ensembl - ENSG00000068308 - - - OMIM - 300713 - - - SwissProt - Q96G74 - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32430360[PMID] - - siah E3 ubiquitin protein ligase 1 - SIAH1 - - hSIAH1 - - - gene with protein product - - - - SwissProt - Q8IUQ4 - - - HGNC - 10857 - - - Ensembl - ENSG00000196470 - - - OMIM - 602212 - - - - - 16q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30293988[PMID] - - Rac family small GTPase 3 - RAC3 - - - - gene with protein product - - - - OMIM - 602050 - - - SwissProt - P60763 - - - HGNC - 9803 - - - Ensembl - ENSG00000169750 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32703943[PMID] - - family with sequence similarity 50 member A - FAM50A - - 9F - DNA segment on chromosome X (unique) 9928 expressed sequence - HXC-26 - DXS9928E - XAP5 - - - gene with protein product - - - - Ensembl - ENSG00000071859 - - - OMIM - 300453 - - - SwissProt - Q14320 - - - HGNC - 18786 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32891193[PMID] - - zinc finger MYM-type containing 2 - ZMYM2 - - RAMP - FIM - MYM - - - gene with protein product - - - - Ensembl - ENSG00000121741 - - - OMIM - 602221 - - - SwissProt - Q9UBW7 - - - HGNC - 12989 - - - - - 13q12.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 34102099[PMID] - - adaptor related protein complex 1 subunit gamma 1 - AP1G1 - - gamma1-adaptin - - - gene with protein product - - - - OMIM - 603533 - - - SwissProt - O43747 - - - Ensembl - ENSG00000166747 - - - HGNC - 555 - - - - - 16q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34379057[PMID] - - ATPase phospholipid transporting 9A (putative) - ATP9A - - KIAA0611 - ATPIIA - - - gene with protein product - - - - Ensembl - ENSG00000054793 - - - OMIM - 609126 - - - SwissProt - O75110 - - - HGNC - 13540 - - - IUPHAR - 860 - - - - - 20q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35858628[PMID] - - deoxyhypusine hydroxylase - DOHH - - MGC4293 - - - gene with protein product - - - - Ensembl - ENSG00000129932 - - - HGNC - 28662 - - - OMIM - 611262 - - - SwissProt - Q9BU89 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35907405[PMID] - - adhesion G protein-coupled receptor L1 - ADGRL1 - - calcium-independent alpha-latrotoxin receptor 1 - CIRL1 - LEC2 - KIAA0821 - - - gene with protein product - - - - OMIM - 616416 - - - SwissProt - O94910 - - - IUPHAR - 206 - - - HGNC - 20973 - - - Ensembl - ENSG00000072071 - - - - - 19p13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27048600[PMID] - - casein kinase 2 alpha 1 - CSNK2A1 - - Cka1 - Cka2 - Casein kinase II subunit alpha - - - gene with protein product - - - - OMIM - 115440 - - - Ensembl - ENSG00000101266 - - - IUPHAR - 1549 - - - HGNC - 2457 - - - SwissProt - P68400 - - - Genatlas - CSNK2A1 - - - Reactome - P68400 - - - ClinVar - CSNK2A1 - - - - - 20p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32152250[PMID] - - trinucleotide repeat containing adaptor 6B - TNRC6B - - KIAA1093 - - - gene with protein product - - - - HGNC - 29190 - - - Ensembl - ENSG00000100354 - - - SwissProt - Q9UPQ9 - - - Reactome - Q9UPQ9 - - - OMIM - 610740 - - - - - 22q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32341456[PMID] - - cullin 3 - CUL3 - - - - gene with protein product - - - - Genatlas - CUL3 - - - HGNC - 2553 - - - OMIM - 603136 - - - Reactome - Q13618 - - - SwissProt - Q13618 - - - ClinVar - CUL3 - - - Ensembl - ENSG00000036257 - - - - - 2q36.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28881385[PMID]_39603091[PMID] - - SET domain containing 5 - SETD5 - - FLJ10707 - SETD5A - - - gene with protein product - - - - ClinVar - SETD5 - - - Ensembl - ENSG00000168137 - - - Genatlas - SETD5 - - - HGNC - 25566 - - - OMIM - 615743 - - - SwissProt - Q9C0A6 - - - - - 3p25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33909990[PMID] - - Snf2 related CREBBP activator protein - SRCAP - - DOMO1 - Domino homolog 1 (Drosophila) - EAF1 - KIAA0309 - SWR1 - Swi2/Snf2-related ATPase homolog (S. cerevisiae) - domino homolog 1 (Drosophila) - - - gene with protein product - - - - ClinVar - SRCAP - - - Ensembl - ENSG00000080603 - - - Genatlas - SRCAP - - - HGNC - 16974 - - - OMIM - 611421 - - - SwissProt - Q6ZRS2 - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33864376[PMID] - - ring finger protein 2 - RNF2 - - BAP1 - DING - HIPI3 - RING1B - RING2 - BAP-1 - - - gene with protein product - - - - HGNC - 10061 - - - Ensembl - ENSG00000121481 - - - OMIM - 608985 - - - SwissProt - Q99496 - - - Genatlas - RNF2 - - - ClinVar - RNF2 - - - - - 1q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34157790[PMID] - - synaptotagmin binding cytoplasmic RNA interacting protein - SYNCRIP - - HNRNPQ - GRY-RBP - NSAP1 - HNRPQ1 - dJ3J17.2 - heterogeneous nuclear ribonucleoprotein Q - hnRNP-Q - - - gene with protein product - - - - HGNC - 16918 - - - SwissProt - O60506 - - - OMIM - 616686 - - - Ensembl - ENSG00000135316 - - - - - 6q14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34183358[PMID] - - G protein subunit beta 2 - GNB2 - - transducin beta chain 2 - G protein, beta-2 subunit - guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2 - signal-transducing guanine nucleotide-binding regulatory protein beta subunit - - - gene with protein product - - - - HGNC - 4398 - - - Ensembl - ENSG00000172354 - - - OMIM - 139390 - - - SwissProt - P62879 - - - - - 7q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35543142[PMID] - - pre-mRNA processing factor 8 - PRPF8 - - PRPC8 - Prp8 - SNRNP220 - hPrp8 - - - gene with protein product - - - - ClinVar - PRPF8 - - - SwissProt - Q6P2Q9 - - - Ensembl - ENSG00000174231 - - - Genatlas - PRPF8 - - - HGNC - 17340 - - - OMIM - 607300 - - - Reactome - Q6P2Q9 - - - - - 17p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 35108495[PMID] - - neuronal cell adhesion molecule - NRCAM - - NgCAM-related cell adhesion molecule - KIAA0343 - Bravo - - - gene with protein product - - - - HGNC - 7994 - - - SwissProt - Q92823 - - - Ensembl - ENSG00000091129 - - - OMIM - 601581 - - - - - 7q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35202563[PMID] - - H4 clustered histone 5 - H4C5 - - H4/j - - - gene with protein product - - - - HGNC - 4790 - - - Ensembl - ENSG00000276966 - - - OMIM - 602830 - - - SwissProt - P62805 - - - - - 6p22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35240055[PMID] - - TIAM Rac1 associated GEF 1 - TIAM1 - - - - gene with protein product - - - - HGNC - 11805 - - - OMIM - 600687 - - - SwissProt - Q13009 - - - Ensembl - ENSG00000156299 - - - - - 21q22.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 30513141[PMID] - - calcium voltage-gated channel subunit alpha1 C - CACNA1C - - CACH2 - CACN2 - Cav1.2 - LQT8 - TS - - - gene with protein product - - - - ClinVar - CACNA1C - - - Ensembl - ENSG00000151067 - - - Genatlas - CACNA1C - - - HGNC - 1390 - - - IUPHAR - 529 - - - OMIM - 114205 - - - Reactome - Q13936 - - - SwissProt - Q13936 - - - - - 12p13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31327001[PMID] - - WD repeat and FYVE domain containing 3 - WDFY3 - - ALFY - KIAA0993 - ZFYVE25 - - - gene with protein product - - - - ClinVar - WDFY3 - - - HGNC - 20751 - - - Ensembl - ENSG00000163625 - - - SwissProt - Q8IZQ1 - - - OMIM - 617485 - - - Genatlas - WDFY3 - - - Reactome - Q8IZQ1 - - - - - 4q21.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 34375587[PMID] - - glutamate ionotropic receptor kainate type subunit 2 - GRIK2 - - excitatory amino acid receptor 4‘ - EAA4 - GluK2 - MRT6 - GLUK6 - excitatory amino acid receptor 4 - GluR-6 - excitatory amino acid receptor 4‘ - - - gene with protein product - - - - ClinVar - GRIK2 - - - Ensembl - ENSG00000164418 - - - Genatlas - GRIK2 - - - HGNC - 4580 - - - IUPHAR - 451 - - - OMIM - 138244 - - - Reactome - Q13002 - - - SwissProt - Q13002 - - - - - 6q16.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 31668703[PMID] - - netrin G1 - NTNG1 - - KIAA0976 - Lmnt1 - Netrin-G1 - netrin G1f - NetrinG1 - NetG1 - laminet-1 - - - gene with protein product - - - - Reactome - Q9Y2I2 - - - ClinVar - NTNG1 - - - Ensembl - ENSG00000162631 - - - Genatlas - NTNG1 - - - HGNC - 23319 - - - OMIM - 608818 - - - SwissProt - Q9Y2I2 - - - - - 1p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31201375[PMID] - - CCR4-NOT transcription complex subunit 3 - CNOT3 - - KIAA0691 - LENG2 - NOT3 (negative regulator of transcription 3, yeast) homolog - NOT3H - - - gene with protein product - - - - Ensembl - ENSG00000088038 - - - Genatlas - CNOT3 - - - HGNC - 7879 - - - OMIM - 604910 - - - Reactome - O75175 - - - SwissProt - O75175 - - - ClinVar - CNOT3 - - - - - 19q13.42 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33340455[PMID] - - ubiquitin protein ligase E3 component n-recognin 7 - UBR7 - - - - gene with protein product - - - - HGNC - 20344 - - - OMIM - 613816 - - - Ensembl - ENSG00000012963 - - - SwissProt - Q8N806 - - - - - 14q32.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29961568[PMID] - - WASP family member 1 - WASF1 - - WAVE-1 - SCAR1 - WAVE1 - KIAA0269 - WAVE - - - gene with protein product - - - - SwissProt - Q92558 - - - Ensembl - ENSG00000112290 - - - HGNC - 12732 - - - OMIM - 605035 - - - - - 6q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35618198[PMID]_35616059[PMID] - - zinc finger protein 142 - ZNF142 - - pHZ-49 - KIAA0236 - - - gene with protein product - - - - HGNC - 12927 - - - OMIM - 604083 - - - Ensembl - ENSG00000115568 - - - SwissProt - P52746 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32346159[PMID] - - SET domain containing 1A, histone lysine methyltransferase - SETD1A - - KIAA0339 - KMT2F - Set1 - SET1A - - - gene with protein product - - - - HGNC - 29010 - - - Ensembl - ENSG00000099381 - - - SwissProt - O15047 - - - OMIM - 611052 - - - Genatlas - SETD1A - - - Reactome - O15047 - - - ClinVar - SETD1A - - - IUPHAR - 2700 - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32761064[PMID] - - MAP kinase activating death domain - MADD - - DENN - RAB3GEP - KIAA0358 - IG20 - Insuloma-Glucagonoma protein 20 - differentially expressed in normal and neoplastic cells - - - gene with protein product - - - - SwissProt - Q8WXG6 - - - Ensembl - ENSG00000110514 - - - OMIM - 603584 - - - HGNC - 6766 - - - - - 11p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31668703[PMID] - - netrin G2 - NTNG2 - - laminet-2 - NetrinG2 - Netrin-G2 - Lmnt2 - KIAA1857 - - - gene with protein product - - - - SwissProt - Q96CW9 - - - Ensembl - ENSG00000196358 - - - OMIM - 618689 - - - HGNC - 14288 - - - - - 9q34.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35202563[PMID] - - H4 clustered histone 3 - H4C3 - - dJ221C16.1 - H4/g - - - gene with protein product - - - - SwissProt - P62805 - - - HGNC - 4787 - - - OMIM - 602827 - - - Ensembl - ENSG00000197061 - - - - - 6p22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32307552[PMID] - - coiled-coil domain containing 32 - CCDC32 - - MGC20481 - - - gene with protein product - - - - SwissProt - Q9BV29 - - - HGNC - 28295 - - - Ensembl - ENSG00000128891 - - - OMIM - 618941 - - - - - 15q15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33073849[PMID] - - protein associated with LIN7 1, MAGUK p55 family member - PALS1 - - protein associated with Lin-7 1 - stardust - FLJ12615 - - - gene with protein product - - - - SwissProt - Q8N3R9 - - - Ensembl - ENSG00000072415 - - - OMIM - 606958 - - - HGNC - 18669 - - - - - 14q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33232677[PMID] - - lysine demethylase 4B - KDM4B - - TDRD14B - tudor domain containing 14B - KIAA0876 - - - gene with protein product - - - - SwissProt - O94953 - - - Ensembl - ENSG00000127663 - - - OMIM - 609765 - - - IUPHAR - 2676 - - - HGNC - 29136 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31031012[PMID] - - actin like 6B - ACTL6B - - SMARCN2 - BAF53B - - - gene with protein product - - - - HGNC - 160 - - - Ensembl - ENSG00000077080 - - - SwissProt - O94805 - - - Reactome - O94805 - - - OMIM - 612458 - - - - - 7q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33597769[PMID] - - discs large MAGUK scaffold protein 4 - DLG4 - - PSD-95 - PSD95 - SAP90 - SAP-90 - - - gene with protein product - - - - Ensembl - ENSG00000132535 - - - OMIM - 602887 - - - Reactome - P78352 - - - SwissProt - P78352 - - - HGNC - 2903 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31422817[PMID] - - DEAD-box helicase 6 - DDX6 - - RCK - Rck/p54 - - - gene with protein product - - - - HGNC - 2747 - - - Ensembl - ENSG00000110367 - - - SwissProt - P26196 - - - Reactome - P26196 - - - OMIM - 600326 - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33894126[PMID] - - dihydropyrimidinase like 5 - DPYSL5 - - CRMP5 - collapsin response mediator protein 5 - CV2 - Ulip6 - CRMP-5 - CRAM - - - gene with protein product - - - - HGNC - 20637 - - - Ensembl - ENSG00000157851 - - - OMIM - 608383 - - - SwissProt - Q9BPU6 - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 33443317[PMID] - - mediator complex subunit 27 - MED27 - - CRSP34 - MED3 - TRAP37 - - - gene with protein product - - - - HGNC - 2377 - - - Ensembl - ENSG00000160563 - - - OMIM - 605044 - - - SwissProt - Q6P2C8 - - - - - 9q34.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32707086[PMID] - - 4-hydroxyphenylpyruvate dioxygenase like - HPDL - - MGC15668 - 4-HPPD-L - - - gene with protein product - - - - HGNC - 28242 - - - Ensembl - ENSG00000186603 - - - OMIM - 618994 - - - SwissProt - Q96IR7 - - - - - 1p34.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33159882[PMID] - - heparan sulfate 2-O-sulfotransferase 1 - HS2ST1 - - KIAA0448 - - - gene with protein product - - - - HGNC - 5193 - - - Ensembl - ENSG00000153936 - - - OMIM - 604844 - - - SwissProt - Q7LGA3 - - - - - 1p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29220673[PMID] - - glutamate ionotropic receptor AMPA type subunit 4 - GRIA4 - - GluA4 - GLURD - GLUR4C - GluR-4 - GluR-D - Glutamate receptor 4 - - - gene with protein product - - - - HGNC - 4574 - - - Ensembl - ENSG00000152578 - - - SwissProt - P48058 - - - Reactome - P48058 - - - IUPHAR - 447 - - - OMIM - 138246 - - - - - 11q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29740699[PMID] - - mediator complex subunit 13 - MED13 - - KIAA0593 - TRAP240 - - - gene with protein product - - - - HGNC - 22474 - - - Ensembl - ENSG00000108510 - - - SwissProt - Q9UHV7 - - - Reactome - Q9UHV7 - - - OMIM - 603808 - - - - - 17q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30909959[PMID] - - transcription factor 20 - TCF20 - - AR1 - SPBP - stromelysin-1 platelet-derived growth factor-responsive element binding protein - - - gene with protein product - - - - OMIM - 603107 - - - SwissProt - Q9UGU0 - - - Genatlas - TCF20 - - - Ensembl - ENSG00000100207 - - - HGNC - 11631 - - - ClinVar - TCF20 - - - - - 22q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34003604[PMID] - - transcription factor 7 like 2 - TCF7L2 - - TCF-4 - - - gene with protein product - - - - Ensembl - ENSG00000148737 - - - ClinVar - TCF7L2 - - - OMIM - 602228 - - - SwissProt - Q9NQB0 - - - Reactome - Q9NQB0 - - - HGNC - 11641 - - - Genatlas - TCF7L2 - - - - - 10q25.2-q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33077894[PMID] - - jumonji and AT-rich interaction domain containing 2 - JARID2 - - - - gene with protein product - - - - HGNC - 6196 - - - SwissProt - Q92833 - - - OMIM - 601594 - - - Ensembl - ENSG00000008083 - - - - - 6p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29180823[PMID] - - HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 - HUWE1 - - Ib772 - KIAA0312 - UREB1 - - - gene with protein product - - - - ClinVar - HUWE1 - - - Ensembl - ENSG00000086758 - - - Genatlas - HUWE1 - - - HGNC - 30892 - - - OMIM - 300697 - - - Reactome - Q7Z6Z7 - - - SwissProt - Q7Z6Z7 - - - - - Xp11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31395947[PMID] - - protein tyrosine phosphatase non-receptor type 23 - PTPN23 - - DKFZP564F0923 - KIAA1471 - HD-PTP - - - gene with protein product - - - - HGNC - 14406 - - - Ensembl - ENSG00000076201 - - - SwissProt - Q9H3S7 - - - Reactome - Q9H3S7 - - - OMIM - 606584 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30612693[PMID] - - mitogen-activated protein kinase 8 interacting protein 3 - MAPK8IP3 - - JSAP1 - KIAA1066 - syd - JIP3 - homolog of Drosophila Sunday driver 2 - - - gene with protein product - - - - HGNC - 6884 - - - OMIM - 605431 - - - Ensembl - ENSG00000138834 - - - SwissProt - Q9UPT6 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31616000[PMID] - - tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 - TANC2 - - DKFZP564D166 - FLJ10215 - FLJ11824 - KIAA1148 - KIAA1636 - rols - ROLSA - rolling pebbles homolog B (Drosophila) - - - gene with protein product - - - - HGNC - 30212 - - - Ensembl - ENSG00000170921 - - - SwissProt - Q9HCD6 - - - OMIM - 615047 - - - - - 17q23.2-q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33547280[PMID] - - eukaryotic translation initiation factor 5A - EIF5A - - EIF-5A - EIF5A1 - MGC104255 - MGC99547 - - - gene with protein product - - - - OMIM - 600187 - - - SwissProt - P63241 - - - Ensembl - ENSG00000132507 - - - HGNC - 3300 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 33875846[PMID] - - zinc finger protein 699 - ZNF699 - - FLJ38144 - hang - - - gene with protein product - - - - Ensembl - ENSG00000196110 - - - OMIM - 609571 - - - SwissProt - Q32M78 - - - HGNC - 24750 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35202563[PMID] - - H4 clustered histone 9 - H4C9 - - H4/m - - - gene with protein product - - - - HGNC - 4793 - - - Ensembl - ENSG00000276180 - - - OMIM - 602833 - - - SwissProt - P62805 - - - - - 6p22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30976111[PMID] - - dedicator of cytokinesis 3 - DOCK3 - - KIAA0299 - MOCA - PBP - - - gene with protein product - - - - Reactome - Q8IZD9 - - - OMIM - 603123 - - - HGNC - 2989 - - - Ensembl - ENSG00000088538 - - - SwissProt - Q8IZD9 - - - - - 3p21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 29656860[PMID] - - N-alpha-acetyltransferase 15, NatA auxiliary subunit - NAA15 - - NATH - FLJ13340 - TBDN100 - - - gene with protein product - - - - Reactome - Q9BXJ9 - - - OMIM - 608000 - - - HGNC - 30782 - - - Ensembl - ENSG00000164134 - - - SwissProt - Q9BXJ9 - - - - - 4q31.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 29656859[PMID] - - RAR related orphan receptor A - RORA - - RORa - NR1F1 - ROR1 - ROR3 - ROR2 - RZRA - RORα - ROR-alpha - RORalpha - nuclear receptor subfamily 1 group F member 1 - RAR-related orphan nuclear receptor alpha - RORa1 - Nuclear receptor ROR-alpha - - - gene with protein product - - - - SwissProt - P35398 - - - Reactome - P35398 - - - ClinVar - RORA - - - Genatlas - RORA - - - Ensembl - ENSG00000069667 - - - IUPHAR - 598 - - - HGNC - 10258 - - - OMIM - 600825 - - - - - 15q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25644381[PMID]_29728705[PMID] - - ring finger protein, LIM domain interacting - RLIM - - LIM domain interacting ring finger protein - MGC15161 - NY-REN-43 - ring zinc finger protein NY-REN-43antigen - E3 ubiquitin-protein ligase RLIM - - - gene with protein product - - - - HGNC - 13429 - - - OMIM - 300379 - - - Genatlas - RLIM - - - SwissProt - Q9NVW2 - - - Reactome - Q9NVW2 - - - Ensembl - ENSG00000131263 - - - ClinVar - RLIM - - - - - Xq13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29728705[PMID] - - actin like 6A - ACTL6A - - Actl6 - BAF53A - Arp4 - Baf53a - INO80K - BAF complex 53 kDa subunit - BRG1-associated factor - actin-related protein 4 - INO80 complex subunit K - BRG1-associated factor 53A - SMARCN1 - - - gene with protein product - - - - Ensembl - ENSG00000136518 - - - Reactome - O96019 - - - OMIM - 604958 - - - SwissProt - O96019 - - - HGNC - 24124 - - - - - 3q26.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 34186028[PMID] - - chloride voltage-gated channel 3 - CLCN3 - - ClC-3 - CLC3 - - - gene with protein product - - - - HGNC - 2021 - - - Ensembl - ENSG00000109572 - - - OMIM - 600580 - - - IUPHAR - 702 - - - SwissProt - P51790 - - - - - 4q33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33199684[PMID] - - argonaute 2, RISC catalytic component - AGO2 - - Q10 - hAGO2 - argonaute 2 - LINC00980 - - - gene with protein product - - - - OMIM - 606229 - - - Genatlas - AGO2 - - - ClinVar - AGO2 - - - Ensembl - ENSG00000123908 - - - SwissProt - Q9UKV8 - - - Reactome - Q9UKV8 - - - HGNC - 3263 - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 31794431[PMID] - - lysine acetyltransferase 8 - KAT8 - - hMOF - ZC2HC8 - FLJ14040 - MOF - - - gene with protein product - - - - OMIM - 609912 - - - HGNC - 17933 - - - IUPHAR - 2668 - - - Ensembl - ENSG00000103510 - - - SwissProt - Q9H7Z6 - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26740508[PMID] - - huntingtin - HTT - - IT15 - - - gene with protein product - - - - Reactome - P42858 - - - ClinVar - HTT - - - Ensembl - ENSG00000197386 - - - Genatlas - HTT - - - HGNC - 4851 - - - OMIM - 613004 - - - SwissProt - P42858 - - - - - 4p16.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35358416[PMID] - - ATPase plasma membrane Ca2+ transporting 1 - ATP2B1 - - plasma membrane calcium-transporting ATPase 1 - PMCA1 - - - gene with protein product - - - - HGNC - 814 - - - Ensembl - ENSG00000070961 - - - OMIM - 108731 - - - IUPHAR - 843 - - - SwissProt - P20020 - - - - - 12q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34054129[PMID] - - plexin A1 - PLXNA1 - - NOV - - - gene with protein product - - - - HGNC - 9099 - - - Ensembl - ENSG00000114554 - - - SwissProt - Q9UIW2 - - - OMIM - 601055 - - - Genatlas - PLXNA1 - - - Reactome - Q9UIW2 - - - ClinVar - PLXNA1 - - - - - 3q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33150406[PMID] - - lysine methyltransferase 2B - KMT2B - - KIAA0304 - WBP7 - TRX2 - HRX2 - MLL4 - MLL2 - MLL1B - CXXC10 - myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4 - Histone-lysine N-methyltransferase 2B - - - gene with protein product - - - - HGNC - 15840 - - - SwissProt - Q9UMN6 - - - IUPHAR - 2689 - - - Ensembl - ENSG00000272333 - - - Genatlas - KMT2B - - - OMIM - 606834 - - - ClinVar - KMT2B - - - - - 19q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34244665[PMID] - - protocadherin gamma subfamily C, 4 - PCDHGC4 - - PCDH-GAMMA-C4 - - - Disorder-associated locus - - - - Ensembl - ENSG00000242419 - - - OMIM - 606305 - - - SwissProt - Q9Y5F7 - - - HGNC - 8717 - - - - - 5q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35121750[PMID] - - cleavage and polyadenylation specific factor 3 - CPSF3 - - CPSF-73 - CPSF73 - YSH1 - - - gene with protein product - - - - HGNC - 2326 - - - Ensembl - ENSG00000119203 - - - OMIM - 606029 - - - SwissProt - Q9UKF6 - - - - - 2p25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 38815585[PMID] - - MSL complex subunit 2 - MSL2 - - msl-2 - FLJ10546 - male-specific lethal-2 homolog (Drosophila) - KIAA1585 - - - gene with protein product - - - - Ensembl - ENSG00000174579 - - - OMIM - 614802 - - - SwissProt - Q9HCI7 - - - HGNC - 25544 - - - - - 3q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 39571789[PMID] - - UPF1 RNA helicase and ATPase - UPF1 - - smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans) - KIAA0221 - NORF1 - HUPF1 - smg-2 - UP Frameshift 1 - pNORF1 - - - gene with protein product - - - - OMIM - 601430 - - - Ensembl - ENSG00000005007 - - - SwissProt - Q92900 - - - HGNC - 9962 - - - - - 19p13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30679813[PMID] - - F-box protein 11 - FBXO11 - - FBX11 - ubiquitin protein ligase E3 component n-recognin 6 - UBR6 - - - gene with protein product - - - - SwissProt - Q86XK2 - - - IUPHAR - 1260 - - - HGNC - 13590 - - - Ensembl - ENSG00000138081 - - - OMIM - 607871 - - - - - 2p16.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35815345[PMID] - - tryptophanyl-tRNA synthetase 1 - WARS1 - - IFP53 - tryptophan tRNA ligase 1, cytoplasmic - - - gene with protein product - - - - ClinVar - WARS - - - HGNC - 12729 - - - Ensembl - ENSG00000140105 - - - SwissProt - P23381 - - - OMIM - 191050 - - - Genatlas - WARS - - - Reactome - P23381 - - - - - 14q32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28132691[PMID]_30421579[PMID] - - proteasome 26S subunit, non-ATPase 12 - PSMD12 - - p55 - Rpn5 - - - gene with protein product - - - - HGNC - 9557 - - - Ensembl - ENSG00000197170 - - - SwissProt - O00232 - - - Reactome - O00232 - - - OMIM - 604450 - - - - - 17q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93262 - Crouzon syndrome-acanthosis nigricans syndrome - - Malformation syndrome - - - Disorder - - - - 20301628[PMID] - - fibroblast growth factor receptor 3 - FGFR3 - - CD333 - CEK2 - JTK4 - - - gene with protein product - - - - Ensembl - ENSG00000068078 - - - Genatlas - FGFR3 - - - HGNC - 3690 - - - IUPHAR - 1810 - - - OMIM - 134934 - - - Reactome - P22607 - - - SwissProt - P22607 - - - ClinVar - FGFR3 - - - - - 4p16.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93260 - Pfeiffer syndrome type 3 - - Clinical subtype - - - Subtype of disorder - - - - 20301628[PMID] - - fibroblast growth factor receptor 2 - FGFR2 - - CD332 - CEK3 - Crouzon syndrome - ECT1 - K-SAM - Pfeiffer syndrome - TK14 - TK25 - - - gene with protein product - - - - Ensembl - ENSG00000066468 - - - Genatlas - FGFR2 - - - HGNC - 3689 - - - IUPHAR - 1809 - - - OMIM - 176943 - - - Reactome - P21802 - - - SwissProt - P21802 - - - ClinVar - FGFR2 - - - - - 10q26.13 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 93259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93259 - Pfeiffer syndrome type 2 - - Clinical subtype - - - Subtype of disorder - - - - 20301628[PMID] - - fibroblast growth factor receptor 2 - FGFR2 - - CD332 - CEK3 - Crouzon syndrome - ECT1 - K-SAM - Pfeiffer syndrome - TK14 - TK25 - - - gene with protein product - - - - Ensembl - ENSG00000066468 - - - Genatlas - FGFR2 - - - HGNC - 3689 - - - IUPHAR - 1809 - - - OMIM - 176943 - - - Reactome - P21802 - - - SwissProt - P21802 - - - ClinVar - FGFR2 - - - - - 10q26.13 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 93258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93258 - Pfeiffer syndrome type 1 - - Clinical subtype - - - Subtype of disorder - - - - 20301628[PMID] - - fibroblast growth factor receptor 1 - FGFR1 - - BFGFR - CD331 - CEK - FLG - H2 - H3 - H4 - H5 - N-SAM - Pfeiffer syndrome - - - gene with protein product - - - - Ensembl - ENSG00000077782 - - - Genatlas - FGFR1 - - - HGNC - 3688 - - - IUPHAR - 1808 - - - OMIM - 136350 - - - Reactome - P11362 - - - SwissProt - P11362 - - - ClinVar - FGFR1 - - - - - 8p11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301628[PMID] - - fibroblast growth factor receptor 2 - FGFR2 - - CD332 - CEK3 - Crouzon syndrome - ECT1 - K-SAM - Pfeiffer syndrome - TK14 - TK25 - - - gene with protein product - - - - Ensembl - ENSG00000066468 - - - Genatlas - FGFR2 - - - HGNC - 3689 - - - IUPHAR - 1809 - - - OMIM - 176943 - - - Reactome - P21802 - - - SwissProt - P21802 - - - ClinVar - FGFR2 - - - - - 10q26.13 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 93271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93271 - Short rib-polydactyly syndrome, Verma-Naumoff type - - Malformation syndrome - - - Disorder - - - - 22791528[PMID]_19648123[PMID] - - intraflagellar transport 80 - IFT80 - - KIAA1374 - CFAP167 - FAP167 - - - gene with protein product - - - - Ensembl - ENSG00000068885 - - - Genatlas - IFT80 - - - HGNC - 29262 - - - OMIM - 611177 - - - Reactome - Q9P2H3 - - - SwissProt - Q9P2H3 - - - ClinVar - IFT80 - - - - - 3q25.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22791528[PMID]_19442771[PMID] - - dynein cytoplasmic 2 heavy chain 1 - DYNC2H1 - - DHC1b - DHC2 - DYH1B - hdhc11 - - - gene with protein product - - - - Genatlas - DYNC2H1 - - - HGNC - 2962 - - - OMIM - 603297 - - - Reactome - Q8NCM8 - - - SwissProt - Q8NCM8 - - - ClinVar - DYNC2H1 - - - Ensembl - ENSG00000187240 - - - - - 11q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21473986[PMID]_22791528[PMID] - - WD repeat domain 35 - WDR35 - - FAP118 - IFT121 - IFTA1 - KIAA1336 - MGC33196 - CFAP118 - - - gene with protein product - - - - ClinVar - WDR35 - - - Ensembl - ENSG00000118965 - - - Genatlas - WDR35 - - - HGNC - 29250 - - - OMIM - 613602 - - - Reactome - Q9P2L0 - - - SwissProt - Q9P2L0 - - - - - 2p24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23910462[PMID] - - dynein 2 intermediate chain 1 - DYNC2I1 - - FLJ10300 - FAP163 - DIC6 - CFAP163 - - - gene with protein product - - - - Ensembl - ENSG00000126870 - - - Genatlas - WDR60 - - - HGNC - 21862 - - - OMIM - 615462 - - - Reactome - Q8WVS4 - - - SwissProt - Q8WVS4 - - - ClinVar - WDR60 - - - - - 7q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24183449[PMID] - - dynein 2 intermediate chain 2 - DYNC2I2 - - bA216B9.3 - DIC5 - FAP133 - MGC20486 - CFAP133 - - - gene with protein product - - - - ClinVar - WDR34 - - - Ensembl - ENSG00000119333 - - - Genatlas - WDR34 - - - HGNC - 28296 - - - OMIM - 613363 - - - Reactome - Q96EX3 - - - SwissProt - Q96EX3 - - - - - 9q34.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93269 - Short rib-polydactyly syndrome, Majewski type - - Malformation syndrome - - - Disorder - - - - 29068549[PMID] - - TRAF3 interacting protein 1 - TRAF3IP1 - - FAP116 - DKFZP434F124 - IFT54 - MIP-T3 - MIPT3 - microtubule interacting protein that associates with TRAF3 - CFAP116 - - - gene with protein product - - - - Ensembl - ENSG00000204104 - - - Genatlas - TRAF3IP1 - - - HGNC - 17861 - - - OMIM - 607380 - - - Reactome - Q8TDR0 - - - SwissProt - Q8TDR0 - - - ClinVar - TRAF3IP1 - - - - - 2q37.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22791528[PMID]_21211617[PMID]_22499340[PMID] - - dynein cytoplasmic 2 heavy chain 1 - DYNC2H1 - - DHC1b - DHC2 - DYH1B - hdhc11 - - - gene with protein product - - - - Genatlas - DYNC2H1 - - - HGNC - 2962 - - - OMIM - 603297 - - - Reactome - Q8NCM8 - - - SwissProt - Q8NCM8 - - - ClinVar - DYNC2H1 - - - Ensembl - ENSG00000187240 - - - - - 11q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22791528[PMID]_22499340[PMID]_21211617[PMID] - - NIMA related kinase 1 - NEK1 - - KIAA1901 - NY-REN-55 - - - gene with protein product - - - - Reactome - Q96PY6 - - - Ensembl - ENSG00000137601 - - - Genatlas - NEK1 - - - HGNC - 7744 - - - IUPHAR - 2114 - - - OMIM - 604588 - - - SwissProt - Q96PY6 - - - ClinVar - NEK1 - - - - - 4q33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93270 - Short rib-polydactyly syndrome, Saldino-Noonan type - - Malformation syndrome - - - Disorder - - - - 27925158[PMID] - - dynein cytoplasmic 2 heavy chain 1 - DYNC2H1 - - DHC1b - DHC2 - DYH1B - hdhc11 - - - gene with protein product - - - - Genatlas - DYNC2H1 - - - HGNC - 2962 - - - OMIM - 603297 - - - Reactome - Q8NCM8 - - - SwissProt - Q8NCM8 - - - ClinVar - DYNC2H1 - - - Ensembl - ENSG00000187240 - - - - - 11q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93268 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93268 - Short rib-polydactyly syndrome, Beemer-Langer type - - Malformation syndrome - - - Disorder - - - - 30767363[PMID] - - intraflagellar transport 80 - IFT80 - - KIAA1374 - CFAP167 - FAP167 - - - gene with protein product - - - - Ensembl - ENSG00000068885 - - - Genatlas - IFT80 - - - HGNC - 29262 - - - OMIM - 611177 - - - Reactome - Q9P2H3 - - - SwissProt - Q9P2H3 - - - ClinVar - IFT80 - - - - - 3q25.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28370949[PMID] - - intraflagellar transport 122 - IFT122 - - FAP80 - CFAP80 - SPG - WDR10p - WDR140 - - - gene with protein product - - - - ClinVar - IFT122 - - - Ensembl - ENSG00000163913 - - - Genatlas - IFT122 - - - HGNC - 13556 - - - OMIM - 606045 - - - Reactome - Q9HBG6 - - - SwissProt - Q9HBG6 - - - - - 3q21.3-q22.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 93282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282 - Spondyloepimetaphyseal dysplasia, PAPSS2 type - - Disease - - - Disorder - - - - 9771708[PMID] - - 3'-phosphoadenosine 5'-phosphosulfate synthase 2 - PAPSS2 - - bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 - sulfate adenylyltransferase - ATPSK2 - adenylyl-sulfate kinase - adenosine 5'-phosphosulfate kinase - PAPS synthase 2 - - - gene with protein product - - - - Ensembl - ENSG00000198682 - - - Genatlas - PAPSS2 - - - HGNC - 8604 - - - OMIM - 603005 - - - Reactome - O95340 - - - SwissProt - O95340 - - - ClinVar - PAPSS2 - - - - - 10q23.2-q23.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93283 - Spondyloepiphyseal dysplasia, Kimberley type - - Disease - - - Disorder - - - - 16080123[PMID] - - aggrecan - ACAN - - CSPGCP - aggrecan proteoglycan - - - gene with protein product - - - - ClinVar - ACAN - - - Ensembl - ENSG00000157766 - - - Genatlas - ACAN - - - HGNC - 319 - - - OMIM - 155760 - - - Reactome - P16112 - - - SwissProt - P16112 - - - - - 15q26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93279 - Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis - - Disease - - - Disorder - - - - 1975693[PMID] - - collagen type II alpha 1 chain - COL2A1 - - STL1 - - - gene with protein product - - - - ClinVar - COL2A1 - - - Ensembl - ENSG00000139219 - - - Genatlas - COL2A1 - - - HGNC - 2200 - - - OMIM - 120140 - - - Reactome - P02458 - - - SwissProt - P02458 - - - - - 12q13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93276 - Polyostotic fibrous dysplasia - - Clinical subtype - - - Subtype of disorder - - - - 10535539[PMID]_10646121[PMID] - - GNAS complex locus - GNAS - - G protein subunit alpha S - GNASXL - GPSA - NESP - NESP55 - SCG6 - SgVI - secretogranin VI - - - gene with protein product - - - - ClinVar - GNAS - - - SwissProt - P63092 - - - SwissProt - P84996 - - - SwissProt - Q5JWF2 - - - Ensembl - ENSG00000087460 - - - Genatlas - GNAS - - - HGNC - 4392 - - - OMIM - 139320 - - - Reactome - P63092 - - - SwissProt - O95467 - - - - - 20q13.32 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 93277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93277 - Monostotic fibrous dysplasia - - Clinical subtype - - - Subtype of disorder - - - - 10535539[PMID]_10646121[PMID] - - GNAS complex locus - GNAS - - G protein subunit alpha S - GNASXL - GPSA - NESP - NESP55 - SCG6 - SgVI - secretogranin VI - - - gene with protein product - - - - ClinVar - GNAS - - - SwissProt - P63092 - - - SwissProt - P84996 - - - SwissProt - Q5JWF2 - - - Ensembl - ENSG00000087460 - - - Genatlas - GNAS - - - HGNC - 4392 - - - OMIM - 139320 - - - Reactome - P63092 - - - SwissProt - O95467 - - - - - 20q13.32 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 93274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93274 - Thanatophoric dysplasia type 2 - - Clinical subtype - - - Subtype of disorder - - - - 20301540[PMID] - - fibroblast growth factor receptor 3 - FGFR3 - - CD333 - CEK2 - JTK4 - - - gene with protein product - - - - Ensembl - ENSG00000068078 - - - Genatlas - FGFR3 - - - HGNC - 3690 - - - IUPHAR - 1810 - - - OMIM - 134934 - - - Reactome - P22607 - - - SwissProt - P22607 - - - ClinVar - FGFR3 - - - - - 4p16.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 527497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527497 - NKX6-2-related autosomal recessive hypomyelinating leukodystrophy - - Disease - - - Disorder - - - - 28575651[PMID] - - NK6 homeobox 2 - NKX6-2 - - GTX - NKX6.1 - NKX6B - - - gene with protein product - - - - ClinVar - NKX6-2 - - - HGNC - 19321 - - - Ensembl - ENSG00000148826 - - - SwissProt - Q9C056 - - - OMIM - 605955 - - - Genatlas - NKX6-2 - - - - - 10q26.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93110 - Posterior urethral valve - - Morphological anomaly - - - Disorder - - - - 31051115[PMID] - - basonuclin zinc finger protein 2 - BNC2 - - BSN2 - FLJ20043 - bn2 - - - gene with protein product - - - - HGNC - 30988 - - - Ensembl - ENSG00000173068 - - - SwissProt - Q6ZN30 - - - OMIM - 608669 - - - - - 9p22.3-p22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 527450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527450 - Severe myopia-generalized joint laxity-short stature syndrome - - Malformation syndrome - - - Disorder - - - - 28475863[PMID] - - GDNF inducible zinc finger protein 1 - GZF1 - - dJ322G13.2 - ZBTB23 - - - gene with protein product - - - - HGNC - 15808 - - - OMIM - 613842 - - - Ensembl - ENSG00000125812 - - - SwissProt - Q9H116 - - - Reactome - Q9H116 - - - - - 20p11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93100 - Renal agenesis, unilateral - - Clinical subtype - - - Subtype of disorder - - - - 21900877[PMID]_24429398[PMID] - - ret proto-oncogene - RET - - CDHF12 - CDHR16 - PTC - RET receptor tyrosine kinase - RET51 - cadherin-related family member 16 - rearranged during transfection - - - gene with protein product - - - - ClinVar - RET - - - Ensembl - ENSG00000165731 - - - Genatlas - RET - - - HGNC - 9967 - - - IUPHAR - 2185 - - - OMIM - 164761 - - - SwissProt - P07949 - - - Reactome - P07949 - - - - - 10q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21900877[PMID]_24700879[PMID] - - Fraser extracellular matrix complex subunit 1 - FRAS1 - - FLJ14927 - FLJ22031 - KIAA1500 - - - gene with protein product - - - - ClinVar - FRAS1 - - - Ensembl - ENSG00000138759 - - - Genatlas - FRAS1 - - - HGNC - 19185 - - - OMIM - 607830 - - - SwissProt - Q86XX4 - - - - - 4q21.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21900877[PMID] - - bone morphogenetic protein 4 - BMP4 - - - - gene with protein product - - - - Ensembl - ENSG00000125378 - - - Genatlas - BMP4 - - - HGNC - 1071 - - - OMIM - 112262 - - - Reactome - P12644 - - - SwissProt - P12644 - - - ClinVar - BMP4 - - - - - 14q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21900877[PMID]_24700879[PMID] - - FRAS1 related extracellular matrix 2 - FREM2 - - DKFZp686J0811 - - - gene with protein product - - - - HGNC - 25396 - - - OMIM - 608945 - - - SwissProt - Q5SZK8 - - - ClinVar - FREM2 - - - Ensembl - ENSG00000150893 - - - Genatlas - FREM2 - - - - - 13q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24370773[PMID]_20807610[PMID] - - FRAS1 related extracellular matrix 1 - FREM1 - - C9orf143 - C9orf145 - DKFZp686M16108 - FLJ25461 - TILRR - - - gene with protein product - - - - Ensembl - ENSG00000164946 - - - Genatlas - FREM1 - - - HGNC - 23399 - - - OMIM - 608944 - - - SwissProt - Q5H8C1 - - - ClinVar - FREM1 - - - - - 9p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15888565[PMID] - - uroplakin 3A - UPK3A - - - - gene with protein product - - - - ClinVar - UPK3A - - - Ensembl - ENSG00000100373 - - - Genatlas - UPK3A - - - HGNC - 12580 - - - OMIM - 611559 - - - SwissProt - O75631 - - - - - 22q13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23862974[PMID]_17273976[PMID] - - dual serine/threonine and tyrosine protein kinase - DSTYK - - DustyPK - KIAA0472 - RIP5 - - - gene with protein product - - - - ClinVar - DSTYK - - - Ensembl - ENSG00000133059 - - - Genatlas - DSTYK - - - HGNC - 29043 - - - IUPHAR - 2008 - - - OMIM - 612666 - - - SwissProt - Q6XUX3 - - - - - 1q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29100090[PMID]_29100091[PMID] - - GREB1 like retinoic acid receptor coactivator - GREB1L - - FLJ13687 - C18orf6 - - - gene with protein product - - - - HGNC - 31042 - - - SwissProt - Q9C091 - - - ClinVar - GREB1L - - - Ensembl - ENSG00000141449 - - - Genatlas - GREB1L - - - OMIM - 617782 - - - - - 18q11.1-q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 527468 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527468 - Diaphragmatic hernia-short bowel-asplenia syndrome - - Malformation syndrome - - - Disorder - - - - 28898547[PMID] - - H2.0 like homeobox - HLX - - HB24 - - - gene with protein product - - - - HGNC - 4978 - - - Ensembl - ENSG00000136630 - - - SwissProt - Q14774 - - - Reactome - Q14774 - - - OMIM - 142995 - - - - - 1q41 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 92050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92050 - Congenital tufting enteropathy - - Disease - - - Disorder - - - - 18572020[PMID] - - epithelial cell adhesion molecule - EPCAM - - BerEp4 - 17-1A - 323/A3 - CD326 - CO-17A - EGP-2 - EGP34 - EGP40 - ESA - Ep-CAM - GA733-2 - HEA125 - KS1/4 - KSA - Ly74 - MH99 - MK-1 - MOC31 - TACST-1 - TROP1 - trophoblast cell surface antigen 1 - Ber-Ep4 - MOC-31 - - - gene with protein product - - - - Reactome - P16422 - - - Ensembl - ENSG00000119888 - - - Genatlas - EPCAM - - - HGNC - 11529 - - - OMIM - 185535 - - - SwissProt - P16422 - - - ClinVar - EPCAM - - - - - 2p21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 36076104[PMID] - - proline and glutamate rich with coiled coil 1 - PERCC1 - - - - gene with protein product - - - - HGNC - 52293 - - - Ensembl - ENSG00000284395 - - - OMIM - 618656 - - - SwissProt - A0A1W2PR82 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93160 - Hypocalcemic vitamin D-resistant rickets - - Disease - - - Disorder - - - - 9284761[PMID] - - vitamin D receptor - VDR - - 1,25- dihydroxyvitamin D3 receptor - NR1I1 - PPP1R163 - protein phosphatase 1, regulatory subunit 163 - - - gene with protein product - - - - ClinVar - VDR - - - Ensembl - ENSG00000111424 - - - Genatlas - VDR - - - HGNC - 12679 - - - IUPHAR - 605 - - - OMIM - 601769 - - - Reactome - P11473 - - - SwissProt - P11473 - - - - - 12q13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93114 - Autosomal dominant intermediate Charcot-Marie-Tooth disease type E - - Disease - - - Disorder - - - - 22187985[PMID] - - inverted formin, FH2 and WH2 domain containing - INF2 - - MGC13251 - inverted formin 2 - - - gene with protein product - - - - Ensembl - ENSG00000203485 - - - Genatlas - INF2 - - - HGNC - 23791 - - - OMIM - 610982 - - - SwissProt - Q27J81 - - - ClinVar - INF2 - - - - - 14q32.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93111 - HNF1B-related autosomal dominant tubulointerstitial kidney disease - - Clinical subtype - - - Subtype of disorder - - - - 21844708[PMID]_22498247[PMID] - - HNF1 homeobox B - HNF1B - - HNF1beta - LFB3 - MODY5 - VHNF1 - HNF1ß - hepatocyte nuclear factor 1 beta - - - gene with protein product - - - - ClinVar - HNF1B - - - Ensembl - ENSG00000275410 - - - Genatlas - HNF1B - - - HGNC - 11630 - - - OMIM - 189907 - - - Reactome - P35680 - - - SwissProt - P35680 - - - - - 17q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93172 - Renal dysplasia, unilateral - - Clinical subtype - - - Subtype of disorder - - - - 28566479[PMID] - - HNF1 homeobox B - HNF1B - - HNF1beta - LFB3 - MODY5 - VHNF1 - HNF1ß - hepatocyte nuclear factor 1 beta - - - gene with protein product - - - - ClinVar - HNF1B - - - Ensembl - ENSG00000275410 - - - Genatlas - HNF1B - - - HGNC - 11630 - - - OMIM - 189907 - - - Reactome - P35680 - - - SwissProt - P35680 - - - - - 17q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93173 - Renal dysplasia, bilateral - - Clinical subtype - - - Subtype of disorder - - - - 28566479[PMID] - - HNF1 homeobox B - HNF1B - - HNF1beta - LFB3 - MODY5 - VHNF1 - HNF1ß - hepatocyte nuclear factor 1 beta - - - gene with protein product - - - - ClinVar - HNF1B - - - Ensembl - ENSG00000275410 - - - Genatlas - HNF1B - - - HGNC - 11630 - - - OMIM - 189907 - - - Reactome - P35680 - - - SwissProt - P35680 - - - - - 17q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93322 - Isolated tibial hemimelia - - Morphological anomaly - - - Disorder - - - - 26791356[PMID] - - GLI family zinc finger 3 - GLI3 - - ACLS - DNA-binding protein - PAP-A - PAPA - PAPA1 - PAPB - PPDIV - oncogene GLI3 - zinc finger protein GLI3 - - - gene with protein product - - - - Ensembl - ENSG00000106571 - - - ClinVar - GLI3 - - - Genatlas - GLI3 - - - HGNC - 4319 - - - OMIM - 165240 - - - Reactome - P10071 - - - SwissProt - P10071 - - - - - 7p14.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 93321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93321 - Isolated radial hemimelia - - Morphological anomaly - - - Disorder - - - - 26394607[PMID] - - limb development membrane protein 1 - LMBR1 - - ACHP - FLJ11665 - ZRS - - - gene with protein product - - - - ClinVar - LMBR1 - - - Ensembl - ENSG00000105983 - - - Genatlas - LMBR1 - - - HGNC - 13243 - - - OMIM - 605522 - - - SwissProt - Q8WVP7 - - - - - 7q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26394607[PMID] - - sonic hedgehog signaling molecule - SHH - - HHG1 - MCOPCB5 - SMMCI - TPT - TPTPS - - - gene with protein product - - - - ClinVar - SHH - - - Ensembl - ENSG00000164690 - - - Genatlas - SHH - - - HGNC - 10848 - - - OMIM - 600725 - - - Reactome - Q15465 - - - SwissProt - Q15465 - - - - - 7q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93325 - Autosomal dominant Kenny-Caffey syndrome - - Etiological subtype - - - Subtype of disorder - - - - 23684011[PMID] - - FAM111 trypsin like peptidase A - FAM111A - - FLJ22794 - KIAA1895 - - - gene with protein product - - - - Ensembl - ENSG00000166801 - - - Genatlas - FAM111A - - - HGNC - 24725 - - - OMIM - 615292 - - - SwissProt - Q96PZ2 - - - ClinVar - FAM111A - - - - - 11q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93324 - Autosomal recessive Kenny-Caffey syndrome - - Etiological subtype - - - Subtype of disorder - - - - 12389028[PMID] - - tubulin folding cofactor E - TBCE - - KCS1 - pac2 - - - gene with protein product - - - - HGNC - 11582 - - - OMIM - 604934 - - - Reactome - Q15813 - - - SwissProt - Q15813 - - - Genatlas - TBCE - - - Ensembl - ENSG00000284770 - - - ClinVar - TBCE - - - - - 1q42.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93329 - Autosomal recessive omodysplasia - - Clinical subtype - - - Subtype of disorder - - - - 19481194[PMID] - - glypican 6 - GPC6 - - glypican proteoglycan 6 - - - gene with protein product - - - - ClinVar - GPC6 - - - SwissProt - Q9Y625 - - - Ensembl - ENSG00000183098 - - - Genatlas - GPC6 - - - HGNC - 4454 - - - OMIM - 604404 - - - Reactome - Q9Y625 - - - - - 13q31.3-q32.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 93328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93328 - Autosomal dominant omodysplasia - - Clinical subtype - - - Subtype of disorder - - - - 25759469[PMID] - - frizzled class receptor 2 - FZD2 - - - - gene with protein product - - - - IUPHAR - 230 - - - OMIM - 600667 - - - Reactome - Q14332 - - - SwissProt - Q14332 - - - Ensembl - ENSG00000180340 - - - Genatlas - FZD2 - - - HGNC - 4040 - - - ClinVar - FZD2 - - - - - 17q21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93336 - Polydactyly of a triphalangeal thumb - - Morphological anomaly - - - Disorder - - - - 26394607[PMID] - - sonic hedgehog signaling molecule - SHH - - HHG1 - MCOPCB5 - SMMCI - TPT - TPTPS - - - gene with protein product - - - - ClinVar - SHH - - - Ensembl - ENSG00000164690 - - - Genatlas - SHH - - - HGNC - 10848 - - - OMIM - 600725 - - - Reactome - Q15465 - - - SwissProt - Q15465 - - - - - 7q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26394607[PMID] - - limb development membrane protein 1 - LMBR1 - - ACHP - FLJ11665 - ZRS - - - gene with protein product - - - - ClinVar - LMBR1 - - - Ensembl - ENSG00000105983 - - - Genatlas - LMBR1 - - - HGNC - 13243 - - - OMIM - 605522 - - - SwissProt - Q8WVP7 - - - - - 7q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93335 - Postaxial polydactyly type B - - Morphological anomaly - - - Disorder - - - - 31549748[PMID] - - GLI family zinc finger 1 - GLI1 - - - - gene with protein product - - - - Ensembl - ENSG00000111087 - - - SwissProt - P08151 - - - OMIM - 165220 - - - Reactome - P08151 - - - ClinVar - GLI1 - - - HGNC - 4317 - - - Genatlas - GLI1 - - - - - 12q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26394607[PMID]_18000979[PMID] - - GLI family zinc finger 3 - GLI3 - - ACLS - DNA-binding protein - PAP-A - PAPA - PAPA1 - PAPB - PPDIV - oncogene GLI3 - zinc finger protein GLI3 - - - gene with protein product - - - - Ensembl - ENSG00000106571 - - - ClinVar - GLI3 - - - Genatlas - GLI3 - - - HGNC - 4319 - - - OMIM - 165240 - - - Reactome - P10071 - - - SwissProt - P10071 - - - - - 7p14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93334 - Postaxial polydactyly type A - - Morphological anomaly - - - Disorder - - - - 31549748[PMID] - - GLI family zinc finger 1 - GLI1 - - - - gene with protein product - - - - Ensembl - ENSG00000111087 - - - SwissProt - P08151 - - - OMIM - 165220 - - - Reactome - P08151 - - - ClinVar - GLI1 - - - HGNC - 4317 - - - Genatlas - GLI1 - - - - - 12q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30982135[PMID] - - KIAA0825 - KIAA0825 - - DKFZp686F0372 - MGC34713 - - - gene with protein product - - - - Ensembl - ENSG00000185261 - - - HGNC - 28532 - - - SwissProt - Q8IV33 - - - Reactome - Q8IV33 - - - OMIM - 617266 - - - - - 5q15 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26394607[PMID]_23160277[PMID] - - zinc finger protein 141 - ZNF141 - - pHZ-44 - - - gene with protein product - - - - ClinVar - ZNF141 - - - Ensembl - ENSG00000131127 - - - Genatlas - ZNF141 - - - HGNC - 12926 - - - OMIM - 194648 - - - Reactome - Q15928 - - - SwissProt - Q15928 - - - - - 4p16.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26394607[PMID]_28488682[PMID] - - IQ motif containing E - IQCE - - KIAA1023 - - - gene with protein product - - - - ClinVar - IQCE - - - OMIM - 617631 - - - Genatlas - IQCE - - - Reactome - Q6IPM2 - - - HGNC - 29171 - - - Ensembl - ENSG00000106012 - - - SwissProt - Q6IPM2 - - - - - 7p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26394607[PMID]_22428873[PMID] - - GLI family zinc finger 3 - GLI3 - - ACLS - DNA-binding protein - PAP-A - PAPA - PAPA1 - PAPB - PPDIV - oncogene GLI3 - zinc finger protein GLI3 - - - gene with protein product - - - - Ensembl - ENSG00000106571 - - - ClinVar - GLI3 - - - Genatlas - GLI3 - - - HGNC - 4319 - - - OMIM - 165240 - - - Reactome - P10071 - - - SwissProt - P10071 - - - - - 7p14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30395363[PMID] - - CBY1 interacting BAR domain containing 1 - CIBAR1 - - FLJ38979 - BARMR1 - - - gene with protein product - - - - Ensembl - ENSG00000188343 - - - HGNC - 30452 - - - SwissProt - A1XBS5 - - - Reactome - A1XBS5 - - - OMIM - 617273 - - - - - 8q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93333 - Pelviscapular dysplasia - - Malformation syndrome - - - Disorder - - - - 19068278[PMID]_24039145[PMID] - - T-box transcription factor 15 - TBX15 - - - - gene with protein product - - - - Ensembl - ENSG00000092607 - - - Genatlas - TBX15 - - - HGNC - 11594 - - - OMIM - 604127 - - - SwissProt - Q96SF7 - - - Reactome - Q96SF7 - - - ClinVar - TBX15 - - - - - 1p12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 93339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93339 - Polydactyly of a biphalangeal thumb and/or hallux - - Morphological anomaly - - - Disorder - - - - 30620395[PMID] - - GLI family zinc finger 1 - GLI1 - - - - gene with protein product - - - - Ensembl - ENSG00000111087 - - - SwissProt - P08151 - - - OMIM - 165220 - - - Reactome - P08151 - - - ClinVar - GLI1 - - - HGNC - 4317 - - - Genatlas - GLI1 - - - - - 12q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93338 - Polysyndactyly - - Morphological anomaly - - - Disorder - - - - 26394607[PMID] - - GLI family zinc finger 3 - GLI3 - - ACLS - DNA-binding protein - PAP-A - PAPA - PAPA1 - PAPB - PPDIV - oncogene GLI3 - zinc finger protein GLI3 - - - gene with protein product - - - - Ensembl - ENSG00000106571 - - - ClinVar - GLI3 - - - Genatlas - GLI3 - - - HGNC - 4319 - - - OMIM - 165240 - - - Reactome - P10071 - - - SwissProt - P10071 - - - - - 7p14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93349 - X-linked spondyloepimetaphyseal dysplasia - - Disease - - - Disorder - - - - 27236923[PMID] - - biglycan - BGN - - biglycan proteoglycan - DSPG1 - SLRR1A - - - gene with protein product - - - - ClinVar - BGN - - - HGNC - 1044 - - - OMIM - 301870 - - - Genatlas - BGN - - - SwissProt - P21810 - - - Reactome - P21810 - - - Ensembl - ENSG00000182492 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93346 - Spondyloepimetaphyseal dysplasia congenita, Strudwick type - - Disease - - - Disorder - - - - 7550321[PMID] - - collagen type II alpha 1 chain - COL2A1 - - STL1 - - - gene with protein product - - - - ClinVar - COL2A1 - - - Ensembl - ENSG00000139219 - - - Genatlas - COL2A1 - - - HGNC - 2200 - - - OMIM - 120140 - - - Reactome - P02458 - - - SwissProt - P02458 - - - - - 12q13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93347 - Anauxetic dysplasia - - Disease - - - Disorder - - - - 22420014[PMID] - - RNA component of mitochondrial RNA processing endoribonuclease - RMRP - - NME1 - RMRPR - RRP2 - RNase MRP RNA - - - Non-coding RNA - - - - ClinVar - RMRP - - - Ensembl - ENSG00000277027 - - - Genatlas - RMRP - - - HGNC - 10031 - - - OMIM - 157660 - - - SwissProt - - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21455487[PMID] - - POP1 homolog, ribonuclease P/MRP subunit - POP1 - - processing of precursors 1 - - - gene with protein product - - - - Ensembl - ENSG00000104356 - - - Genatlas - POP1 - - - HGNC - 30129 - - - OMIM - 602486 - - - Reactome - Q99575 - - - SwissProt - Q99575 - - - ClinVar - POP1 - - - - - 8q22.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 31250547[PMID] - - ribonuclease MRP subunit p64 - RMP64 - - DKFZP434F2021 - NET17 - - - gene with protein product - - - - SwissProt - Q6NW34 - - - OMIM - 617089 - - - HGNC - 24496 - - - Ensembl - ENSG00000163608 - - - - - 3q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93356 - Spondyloepimetaphyseal dysplasia, Missouri type - - Disease - - - Disorder - - - - - - matrix metallopeptidase 13 - MMP13 - - CLG3 - collagenase 3 - - - gene with protein product - - - - Ensembl - ENSG00000137745 - - - Genatlas - MMP13 - - - HGNC - 7159 - - - IUPHAR - 1637 - - - OMIM - 600108 - - - Reactome - P45452 - - - SwissProt - P45452 - - - ClinVar - MMP13 - - - - - 11q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93352 - Spondyloepimetaphyseal dysplasia, Shohat type - - Disease - - - Disorder - - - - 28263186[PMID] - - DDRGK domain containing 1 - DDRGK1 - - Dashurin - dJ1187M17.3 - UFBP1 - - - gene with protein product - - - - SwissProt - Q96HY6 - - - OMIM - 616177 - - - Genatlas - DDRGK1 - - - ClinVar - DDRGK1 - - - HGNC - 16110 - - - Ensembl - ENSG00000198171 - - - - - 20p13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 93284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93284 - Spondyloepiphyseal dysplasia tarda - - Disease - - - Disorder - - - - 20301324[PMID] - - trafficking protein particle complex subunit 2 - TRAPPC2 - - MIP-2A - SEDT - TRS20 - ZNF547L - hYP38334 - - - gene with protein product - - - - Ensembl - ENSG00000196459 - - - Genatlas - TRAPPC2 - - - HGNC - 23068 - - - OMIM - 300202 - - - Reactome - P0DI81 - - - SwissProt - P0DI81 - - - ClinVar - TRAPPC2 - - - - - Xp22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93296 - Achondrogenesis type 2 - - Clinical subtype - - - Subtype of disorder - - - - 10797431[PMID] - - collagen type II alpha 1 chain - COL2A1 - - STL1 - - - gene with protein product - - - - ClinVar - COL2A1 - - - Ensembl - ENSG00000139219 - - - Genatlas - COL2A1 - - - HGNC - 2200 - - - OMIM - 120140 - - - Reactome - P02458 - - - SwissProt - P02458 - - - - - 12q13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93298 - Achondrogenesis type 1B - - Clinical subtype - - - Subtype of disorder - - - - 20301689[PMID] - - solute carrier family 26 member 2 - SLC26A2 - - DTDST - diastrophic dysplasia sulfate transporter - - - gene with protein product - - - - Ensembl - ENSG00000155850 - - - Genatlas - SLC26A2 - - - HGNC - 10994 - - - OMIM - 606718 - - - Reactome - P50443 - - - SwissProt - P50443 - - - ClinVar - SLC26A2 - - - IUPHAR - 1098 - - - - - 5q32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93297 - Hypochondrogenesis - - Clinical subtype - - - Subtype of disorder - - - - 10797431[PMID] - - collagen type II alpha 1 chain - COL2A1 - - STL1 - - - gene with protein product - - - - ClinVar - COL2A1 - - - Ensembl - ENSG00000139219 - - - Genatlas - COL2A1 - - - HGNC - 2200 - - - OMIM - 120140 - - - Reactome - P02458 - - - SwissProt - P02458 - - - - - 12q13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93299 - Achondrogenesis type 1A - - Clinical subtype - - - Subtype of disorder - - - - 20089971[PMID] - - thyroid hormone receptor interactor 11 - TRIP11 - - CEV14 - GMAP-210 - GMAP210 - Trip230 - golgi-microtubule-associated-protein of 210 kDa - - - gene with protein product - - - - ClinVar - TRIP11 - - - OMIM - 604505 - - - Reactome - Q15643 - - - SwissProt - Q15643 - - - Ensembl - ENSG00000100815 - - - Genatlas - TRIP11 - - - HGNC - 12305 - - - - - 14q32.12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 93304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93304 - Autosomal dominant brachyolmia - - Malformation syndrome - - - Disorder - - - - 18587396[PMID]_24830047[PMID] - - transient receptor potential cation channel subfamily V member 4 - TRPV4 - - CMT2C - OTRPC4 - TRP12 - VR-OAC - VRL-2 - VROAC - osmosensitive transient receptor potential channel 4 - - - gene with protein product - - - - Ensembl - ENSG00000111199 - - - Genatlas - TRPV4 - - - HGNC - 18083 - - - IUPHAR - 510 - - - OMIM - 605427 - - - Reactome - Q9HBA0 - - - SwissProt - Q9HBA0 - - - ClinVar - TRPV4 - - - - - 12q24.11 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 93307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93307 - Multiple epiphyseal dysplasia type 4 - - Disease - - - Disorder - - - - 20301483[PMID] - - solute carrier family 26 member 2 - SLC26A2 - - DTDST - diastrophic dysplasia sulfate transporter - - - gene with protein product - - - - Ensembl - ENSG00000155850 - - - Genatlas - SLC26A2 - - - HGNC - 10994 - - - OMIM - 606718 - - - Reactome - P50443 - - - SwissProt - P50443 - - - ClinVar - SLC26A2 - - - IUPHAR - 1098 - - - - - 5q32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93308 - Multiple epiphyseal dysplasia type 1 - - Disease - - - Disorder - - - - 20301302[PMID] - - cartilage oligomeric matrix protein - COMP - - MED - THBS5 - thrombospondin-5 - multiple epiphyseal dysplasia - TSP5 - TSP-5 - - - gene with protein product - - - - ClinVar - COMP - - - Ensembl - ENSG00000105664 - - - Genatlas - COMP - - - HGNC - 2227 - - - OMIM - 600310 - - - Reactome - P49747 - - - SwissProt - P49747 - - - - - 19p13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93311 - Multiple epiphyseal dysplasia type 5 - - Disease - - - Disorder - - - - 20301302[PMID] - - matrilin 3 - MATN3 - - EDM5 - HOA - - - gene with protein product - - - - SwissProt - O15232 - - - Ensembl - ENSG00000132031 - - - Genatlas - MATN3 - - - HGNC - 6909 - - - OMIM - 602109 - - - Reactome - O15232 - - - ClinVar - MATN3 - - - - - 2p24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93314 - Spondylometaphyseal dysplasia, Kozlowski type - - Disease - - - Disorder - - - - 24830047[PMID] - - transient receptor potential cation channel subfamily V member 4 - TRPV4 - - CMT2C - OTRPC4 - TRP12 - VR-OAC - VRL-2 - VROAC - osmosensitive transient receptor potential channel 4 - - - gene with protein product - - - - Ensembl - ENSG00000111199 - - - Genatlas - TRPV4 - - - HGNC - 18083 - - - IUPHAR - 510 - - - OMIM - 605427 - - - Reactome - Q9HBA0 - - - SwissProt - Q9HBA0 - - - ClinVar - TRPV4 - - - - - 12q24.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93315 - Spondylometaphyseal dysplasia, 'corner fracture' type - - Disease - - - Disorder - - - - 17163530[PMID] - - collagen type II alpha 1 chain - COL2A1 - - STL1 - - - gene with protein product - - - - ClinVar - COL2A1 - - - Ensembl - ENSG00000139219 - - - Genatlas - COL2A1 - - - HGNC - 2200 - - - OMIM - 120140 - - - Reactome - P02458 - - - SwissProt - P02458 - - - - - 12q13.11 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 29100092[PMID] - - fibronectin 1 - FN1 - - CIG - Cold-insoluble globulin - FINC - GFND2 - LETS - MSF - Migration-stimulating factor - lnc-ABCA12-8 - cold-insoluble globulin - migration-stimulating factor - - - gene with protein product - - - - ClinVar - FN1 - - - Ensembl - ENSG00000115414 - - - Genatlas - FN1 - - - HGNC - 3778 - - - OMIM - 135600 - - - Reactome - P02751 - - - SwissProt - P02751 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93316 - Spondylometaphyseal dysplasia, Schmidt type - - Disease - - - Disorder - - - - 23653587[PMID] - - collagen type II alpha 1 chain - COL2A1 - - STL1 - - - gene with protein product - - - - ClinVar - COL2A1 - - - Ensembl - ENSG00000139219 - - - Genatlas - COL2A1 - - - HGNC - 2200 - - - OMIM - 120140 - - - Reactome - P02458 - - - SwissProt - P02458 - - - - - 12q13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93317 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93317 - Spondylometaphyseal dysplasia, Sedaghatian type - - Malformation syndrome - - - Disorder - - - - 24706940[PMID] - - glutathione peroxidase 4 - GPX4 - - MCSP - PHGPx - phospholipid hydroperoxidase - selenoprotein GPX4 - - - gene with protein product - - - - ClinVar - GPX4 - - - OMIM - 138322 - - - Reactome - P36969 - - - SwissProt - P36969 - - - Ensembl - ENSG00000167468 - - - Genatlas - GPX4 - - - HGNC - 4556 - - - IUPHAR - 3239 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 529962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529962 - 17q24.2 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - 28465847[PMID]_29696806[PMID] - - bromodomain PHD finger transcription factor - BPTF - - FAC1 - NURF301 - - - gene with protein product - - - - HGNC - 3581 - - - Ensembl - ENSG00000171634 - - - SwissProt - Q12830 - - - Reactome - Q12830 - - - IUPHAR - 2723 - - - OMIM - 601819 - - - - - 17q24.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 28465847[PMID]_29696806[PMID] - - proteasome 26S subunit, non-ATPase 12 - PSMD12 - - p55 - Rpn5 - - - gene with protein product - - - - HGNC - 9557 - - - Ensembl - ENSG00000197170 - - - SwissProt - O00232 - - - Reactome - O00232 - - - OMIM - 604450 - - - - - 17q24.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 90673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90673 - Hypothyroidism due to TSH receptor mutations - - Disease - - - Disorder - - - - 19158199[PMID]_20537182[PMID] - - thyroid stimulating hormone receptor - TSHR - - LGR3 - - - gene with protein product - - - - Ensembl - ENSG00000165409 - - - Genatlas - TSHR - - - HGNC - 12373 - - - IUPHAR - 255 - - - OMIM - 603372 - - - Reactome - P16473 - - - SwissProt - P16473 - - - ClinVar - TSHR - - - - - 14q24-q31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 90674 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90674 - Isolated thyroid-stimulating hormone deficiency - - Disease - - - Disorder - - - - 12930599[PMID]_20537182[PMID]_22851492[PMID] - - thyroid stimulating hormone subunit beta - TSHB - - thyrotropin subunit beta - - - gene with protein product - - - - ClinVar - TSHB - - - Ensembl - ENSG00000134200 - - - Genatlas - TSHB - - - HGNC - 12372 - - - OMIM - 188540 - - - Reactome - P01222 - - - SwissProt - P01222 - - - - - 1p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 529831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529831 - Letrozole toxicity - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - 29194389[PMID] - - cytochrome P450 family 2 subfamily A member 6 - CYP2A6 - - CPA6 - CYP2A - - - gene with protein product - - - - OMIM - 122720 - - - HGNC - 2610 - - - Ensembl - ENSG00000255974 - - - SwissProt - P11509 - - - Reactome - P11509 - - - IUPHAR - 1321 - - - - - 19q13.2 - 1 - - - - - Biomarker tested in - - - Not yet assessed - - - - - - 90658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90658 - Charcot-Marie-Tooth disease type 1E - - Disease - - - Disorder - - - - 20301384[PMID] - - peripheral myelin protein 22 - PMP22 - - GAS3 - HNPP - Sp110 - HMSNIA - - - gene with protein product - - - - Reactome - Q01453 - - - ClinVar - PMP22 - - - Ensembl - ENSG00000109099 - - - Genatlas - PMP22 - - - HGNC - 9118 - - - OMIM - 601097 - - - SwissProt - Q01453 - - - - - 17p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90791 - Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency - - Disease - - - Disorder - - - - - - hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 - HSD3B2 - - SDR11E2 - short chain dehydrogenase/reductase family 11E, member 2 - - - gene with protein product - - - - Ensembl - ENSG00000203859 - - - Genatlas - HSD3B2 - - - HGNC - 5218 - - - IUPHAR - 2622 - - - OMIM - 613890 - - - Reactome - P26439 - - - SwissProt - P26439 - - - ClinVar - HSD3B2 - - - - - 1p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 529980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529980 - Inflammatory bowel disease-recurrent sinopulmonary infections syndrome - - Disease - - - Disorder - - - - 25667416[PMID] - - nuclear factor of activated T cells 5 - NFAT5 - - tonicity-responsive enhancer binding protein - NF-AT5 - OREBP - TONEBP - NFATZ - KIAA0827 - NFATL1 - - - gene with protein product - - - - ClinVar - NFAT5 - - - Reactome - O94916 - - - Genatlas - NFAT5 - - - HGNC - 7774 - - - OMIM - 604708 - - - Ensembl - ENSG00000102908 - - - SwissProt - O94916 - - - - - 16q22.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 529977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529977 - Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome - - Disease - - - Disorder - - - - 30026316[PMID] - - receptor interacting serine/threonine kinase 1 - RIPK1 - - RIP - receptor-interacting protein kinase 1 - RIP-1 - RIP1 - - - gene with protein product - - - - SwissProt - Q13546 - - - HGNC - 10019 - - - OMIM - 603453 - - - IUPHAR - 2189 - - - Ensembl - ENSG00000137275 - - - Genatlas - RIPK1 - - - ClinVar - RIPK1 - - - - - 6p25.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 90695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90695 - Non-acquired panhypopituitarism - - Disease - - - Disorder - - - - 15800844[PMID] - - SRY-box transcription factor 3 - SOX3 - - - - gene with protein product - - - - ClinVar - SOX3 - - - Ensembl - ENSG00000134595 - - - Genatlas - SOX3 - - - HGNC - 11199 - - - OMIM - 313430 - - - Reactome - P41225 - - - SwissProt - P41225 - - - - - Xq27.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - PROP paired-like homeobox 1 - PROP1 - - - - gene with protein product - - - - ClinVar - PROP1 - - - Reactome - O75360 - - - Ensembl - ENSG00000175325 - - - Genatlas - PROP1 - - - HGNC - 9455 - - - OMIM - 601538 - - - SwissProt - O75360 - - - - - 5q35.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 529965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529965 - Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - 28866611[PMID] - - chromodomain helicase DNA binding protein 1 - CHD1 - - - - gene with protein product - - - - OMIM - 602118 - - - SwissProt - O14646 - - - ClinVar - CHD1 - - - Ensembl - ENSG00000153922 - - - HGNC - 1915 - - - Genatlas - CHD1 - - - - - 5q15-q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 529970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529970 - Male infertility due to acephalic spermatozoa - - Clinical subtype - - - Subtype of disorder - - - - 30032984[PMID] - - polyamine modulated factor 1 binding protein 1 - PMFBP1 - - - - gene with protein product - - - - HGNC - 17728 - - - Ensembl - ENSG00000118557 - - - SwissProt - Q8TBY8 - - - Reactome - Q8TBY8 - - - OMIM - 618085 - - - - - 16q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27640305[PMID] - - Sad1 and UNC84 domain containing 5 - SUN5 - - dJ726C3.1 - TSARG4 - testis and spermatogenesis related gene 4 - - - gene with protein product - - - - HGNC - 16252 - - - Ensembl - ENSG00000167098 - - - SwissProt - Q8TC36 - - - OMIM - 613942 - - - - - 20q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90625 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90625 - Rare X-linked non-syndromic sensorineural deafness type DFN - - Etiological subtype - - - Subtype of disorder - - - - 20301607[PMID]_24148127[PMID] - - phosphoribosyl pyrophosphate synthetase 1 - PRPS1 - - PRS I - ribose-phosphate diphosphokinase 1 - CMTX5 - DFNX1 - PRS-I - PPRibP - - - gene with protein product - - - - ClinVar - PRPS1 - - - Ensembl - ENSG00000147224 - - - Genatlas - PRPS1 - - - HGNC - 9462 - - - OMIM - 311850 - - - Reactome - P60891 - - - SwissProt - P60891 - - - - - Xq22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23714752[PMID] - - collagen type IV alpha 6 chain - COL4A6 - - - - gene with protein product - - - - ClinVar - COL4A6 - - - HGNC - 2208 - - - OMIM - 303631 - - - Reactome - Q14031 - - - SwissProt - Q14031 - - - Ensembl - ENSG00000197565 - - - Genatlas - COL4A6 - - - - - Xq22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - small muscle protein X-linked - SMPX - - DFNX4 - Chisel - Csl - - - gene with protein product - - - - ClinVar - SMPX - - - Ensembl - ENSG00000091482 - - - Genatlas - SMPX - - - HGNC - 11122 - - - OMIM - 300226 - - - SwissProt - Q9UHP9 - - - - - Xp22.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90635 - Rare autosomal dominant non-syndromic sensorineural deafness type DFNA - - Etiological subtype - - - Subtype of disorder - - - - 26522471[PMID] - - KIT ligand - KITLG - - SLF - FPH2 - KL-1 - Kitl - SCF - SF - familial progressive hyperpigmentation 2 - mast cell growth factor - steel factor - stem cell factor - DFNA69 - - - gene with protein product - - - - Ensembl - ENSG00000049130 - - - Genatlas - KITLG - - - HGNC - 6343 - - - OMIM - 184745 - - - Reactome - P21583 - - - SwissProt - P21583 - - - ClinVar - KITLG - - - - - 12q21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 36071244[PMID] - - centromere protein P - CENPP - - RP11-19J3.3 - CENP-P - - - gene with protein product - - - - HGNC - 32933 - - - Ensembl - ENSG00000188312 - - - OMIM - 611505 - - - SwissProt - Q6IPU0 - - - - - 9q22.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34059922[PMID] - - ubiquitin specific peptidase 48 - USP48 - - FLJ23277 - FLJ20103 - FLJ23054 - FLJ11328 - MGC14879 - - - gene with protein product - - - - HGNC - 18533 - - - Ensembl - ENSG00000090686 - - - OMIM - 617445 - - - SwissProt - Q86UV5 - - - - - 1p36.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29182774[PMID] - - single stranded DNA binding protein 1 - SSBP1 - - mtSSB - SSBP - - - gene with protein product - - - - ClinVar - SSBP1 - - - HGNC - 11317 - - - Ensembl - ENSG00000106028 - - - SwissProt - Q04837 - - - OMIM - 600439 - - - Genatlas - SSBP1 - - - Reactome - Q04837 - - - - - 7q34 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 31231791[PMID] - - transformation/transcription domain associated protein - TRRAP - - Tra1 - PAF400 - TR-AP - - - gene with protein product - - - - SwissProt - Q9Y4A5 - - - Ensembl - ENSG00000196367 - - - HGNC - 12347 - - - IUPHAR - 2256 - - - OMIM - 603015 - - - Genatlas - TRRAP - - - ClinVar - TRRAP - - - - - 7q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29860631[PMID] - - phosphodiesterase 1C - PDE1C - - Hcam3 - - - gene with protein product - - - - ClinVar - PDE1C - - - IUPHAR - 1296 - - - HGNC - 8776 - - - Ensembl - ENSG00000154678 - - - SwissProt - Q14123 - - - OMIM - 602987 - - - Genatlas - PDE1C - - - Reactome - Q14123 - - - - - 7p14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35278131[PMID] - - ATPase phospholipid transporting 11A - ATP11A - - ATPIH - ATPIS - KIAA1021 - Phospholipid-translocating ATPase - Potential phospholipid-transporting ATPase IH - phospholipid-translocating ATPase - potential phospholipid-transporting ATPase IH - - - gene with protein product - - - - IUPHAR - 865 - - - ClinVar - ATP11A - - - Ensembl - ENSG00000068650 - - - Genatlas - ATP11A - - - HGNC - 13552 - - - OMIM - 605868 - - - Reactome - P98196 - - - SwissProt - P98196 - - - - - 13q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28013291[PMID] - - solute carrier family 44 member 4 - SLC44A4 - - CTL4 - DFNA72 - FLJ14491 - NG22 - TPPT - - - gene with protein product - - - - HGNC - 13941 - - - Ensembl - ENSG00000204385 - - - SwissProt - Q53GD3 - - - OMIM - 606107 - - - Genatlas - SLC44A4 - - - Reactome - Q53GD3 - - - ClinVar - SLC44A4 - - - IUPHAR - 1207 - - - - - 6p21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - POU class 4 homeobox 3 - POU4F3 - - BRN3C - - - gene with protein product - - - - Reactome - Q15319 - - - Ensembl - ENSG00000091010 - - - Genatlas - POU4F3 - - - HGNC - 9220 - - - OMIM - 602460 - - - SwissProt - Q15319 - - - ClinVar - POU4F3 - - - - - 5q32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID] - - SIX homeobox 1 - SIX1 - - - - gene with protein product - - - - Genatlas - SIX1 - - - HGNC - 10887 - - - OMIM - 601205 - - - SwissProt - Q15475 - - - Reactome - Q15475 - - - Ensembl - ENSG00000126778 - - - ClinVar - SIX1 - - - - - 14q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - tectorin alpha - TECTA - - - - gene with protein product - - - - Ensembl - ENSG00000109927 - - - Genatlas - TECTA - - - HGNC - 11720 - - - OMIM - 602574 - - - SwissProt - O75443 - - - Reactome - O75443 - - - ClinVar - TECTA - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - transmembrane channel like 1 - TMC1 - - - - gene with protein product - - - - ClinVar - TMC1 - - - HGNC - 16513 - - - OMIM - 606706 - - - SwissProt - Q8TDI8 - - - Ensembl - ENSG00000165091 - - - Genatlas - TMC1 - - - - - 9q21.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - wolframin ER transmembrane glycoprotein - WFS1 - - DIDMOAD - WFS - - - gene with protein product - - - - ClinVar - WFS1 - - - Ensembl - ENSG00000109501 - - - Genatlas - WFS1 - - - HGNC - 12762 - - - OMIM - 606201 - - - Reactome - O76024 - - - SwissProt - O76024 - - - - - 4p16.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - cochlin - COCH - - COCH-5B2 - - - gene with protein product - - - - ClinVar - COCH - - - Ensembl - ENSG00000100473 - - - Genatlas - COCH - - - HGNC - 2180 - - - OMIM - 603196 - - - SwissProt - O43405 - - - - - 14q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - collagen type XI alpha 2 chain - COL11A2 - - HKE5 - - - gene with protein product - - - - ClinVar - COL11A2 - - - Ensembl - ENSG00000204248 - - - Genatlas - COL11A2 - - - HGNC - 2187 - - - OMIM - 120290 - - - Reactome - P13942 - - - SwissProt - P13942 - - - - - 6p21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - gasdermin E - GSDME - - ICERE-1 - inversely correlated with estrogen receptor expression - - - gene with protein product - - - - ClinVar - DFNA5 - - - OMIM - 608798 - - - SwissProt - O60443 - - - Ensembl - ENSG00000105928 - - - Genatlas - DFNA5 - - - HGNC - 2810 - - - - - 7p15.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30245514[PMID]_33605226[PMID] - - collagen type XI alpha 1 chain - COL11A1 - - CO11A1 - STL2 - collagen XI, alpha-1 polypeptide - - - gene with protein product - - - - ClinVar - COL11A1 - - - Ensembl - ENSG00000060718 - - - Genatlas - COL11A1 - - - HGNC - 2186 - - - OMIM - 120280 - - - Reactome - P12107 - - - SwissProt - P12107 - - - - - 1p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - EYA transcriptional coactivator and phosphatase 4 - EYA4 - - - - gene with protein product - - - - ClinVar - EYA4 - - - Ensembl - ENSG00000112319 - - - Genatlas - EYA4 - - - HGNC - 3522 - - - OMIM - 603550 - - - Reactome - O95677 - - - SwissProt - O95677 - - - - - 6q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - gap junction protein beta 2 - GJB2 - - CX26 - NSRD1 - connexin 26 - - - gene with protein product - - - - ClinVar - GJB2 - - - Ensembl - ENSG00000165474 - - - Genatlas - GJB2 - - - HGNC - 4284 - - - OMIM - 121011 - - - Reactome - P29033 - - - SwissProt - P29033 - - - IUPHAR - 716 - - - - - 13q12.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - gap junction protein beta 3 - GJB3 - - CX31 - connexin 31 - - - gene with protein product - - - - HGNC - 4285 - - - OMIM - 603324 - - - Reactome - O75712 - - - SwissProt - O75712 - - - ClinVar - GJB3 - - - Ensembl - ENSG00000188910 - - - Genatlas - GJB3 - - - IUPHAR - 720 - - - - - 1p34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - gap junction protein beta 6 - GJB6 - - CX30 - EDH - HED - connexin 30 - - - gene with protein product - - - - ClinVar - GJB6 - - - Ensembl - ENSG00000121742 - - - Genatlas - GJB6 - - - HGNC - 4288 - - - OMIM - 604418 - - - Reactome - O95452 - - - SwissProt - O95452 - - - IUPHAR - 717 - - - - - 13q12.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - potassium voltage-gated channel subfamily Q member 4 - KCNQ4 - - Kv7.4 - - - gene with protein product - - - - ClinVar - KCNQ4 - - - Ensembl - ENSG00000117013 - - - Genatlas - KCNQ4 - - - HGNC - 6298 - - - IUPHAR - 563 - - - OMIM - 603537 - - - Reactome - P56696 - - - SwissProt - P56696 - - - - - 1p34.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - myosin heavy chain 14 - MYH14 - - KIAA2034 - MHC16 - MYH17 - FLJ13881 - - - gene with protein product - - - - ClinVar - MYH14 - - - Ensembl - ENSG00000105357 - - - Genatlas - MYH14 - - - HGNC - 23212 - - - OMIM - 608568 - - - Reactome - Q7Z406 - - - SwissProt - Q7Z406 - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - myosin heavy chain 9 - MYH9 - - EPSTS - FTNS - MHA - NMHC-II-A - NMMHCA - nonmuscle myosin heavy chain II-A - - - gene with protein product - - - - ClinVar - MYH9 - - - Ensembl - ENSG00000100345 - - - Genatlas - MYH9 - - - HGNC - 7579 - - - OMIM - 160775 - - - Reactome - P35579 - - - SwissProt - P35579 - - - - - 22q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - myosin VI - MYO6 - - KIAA0389 - - - gene with protein product - - - - Ensembl - ENSG00000196586 - - - Genatlas - MYO6 - - - HGNC - 7605 - - - OMIM - 600970 - - - Reactome - Q9UM54 - - - SwissProt - Q9UM54 - - - ClinVar - MYO6 - - - - - 6q14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - myosin VIIA - MYO7A - - NSRD2 - - - gene with protein product - - - - Ensembl - ENSG00000137474 - - - ClinVar - MYO7A - - - Genatlas - MYO7A - - - HGNC - 7606 - - - OMIM - 276903 - - - Reactome - Q13402 - - - SwissProt - Q13402 - - - - - 11q13.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - coiled-coil domain containing 50 - CCDC50 - - Ymer - - - gene with protein product - - - - ClinVar - CCDC50 - - - Ensembl - ENSG00000152492 - - - Genatlas - CCDC50 - - - HGNC - 18111 - - - OMIM - 611051 - - - SwissProt - Q8IVM0 - - - Reactome - Q8IVM0 - - - - - 3q28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - grainyhead like transcription factor 2 - GRHL2 - - BOM - FLJ13782 - brother-of-MGR - - - gene with protein product - - - - Reactome - Q6ISB3 - - - ClinVar - GRHL2 - - - HGNC - 2799 - - - OMIM - 608576 - - - SwissProt - Q6ISB3 - - - Ensembl - ENSG00000083307 - - - Genatlas - GRHL2 - - - - - 8q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24148127[PMID] - - crystallin mu - CRYM - - DFNA40 - thiomorpholine-carboxylate dehydrogenase - mu-crystallin - - - gene with protein product - - - - ClinVar - CRYM - - - HGNC - 2418 - - - OMIM - 123740 - - - Reactome - Q14894 - - - SwissProt - Q14894 - - - Ensembl - ENSG00000103316 - - - Genatlas - CRYM - - - - - 16p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - actin gamma 1 - ACTG1 - - - - gene with protein product - - - - ClinVar - ACTG1 - - - Ensembl - ENSG00000184009 - - - Genatlas - ACTG1 - - - HGNC - 144 - - - OMIM - 102560 - - - Reactome - P63261 - - - SwissProt - P63261 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID] - - solute carrier family 17 member 8 - SLC17A8 - - VGLUT3 - vesicular glutamate transporter 3 - - - gene with protein product - - - - Ensembl - ENSG00000179520 - - - Genatlas - SLC17A8 - - - HGNC - 20151 - - - OMIM - 607557 - - - Reactome - Q8NDX2 - - - SwissProt - Q8NDX2 - - - IUPHAR - 1009 - - - ClinVar - SLC17A8 - - - - - 12q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - microRNA 96 - MIR96 - - hsa-mir-96 - - - Non-coding RNA - - - - SwissProt - - - - ClinVar - MIR96 - - - Ensembl - ENSG00000199158 - - - Genatlas - MIR96 - - - HGNC - 31648 - - - OMIM - 611606 - - - - - 7q32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24729547[PMID]_24729539[PMID] - - TBC1 domain family member 24 - TBC1D24 - - DFNA65 - KIAA1171 - TBC/LysM-associated domain containing 6 - TLDC6 - skywalker homolog (Drosophila) - deafness, autosomal dominant 65 - - - gene with protein product - - - - ClinVar - TBC1D24 - - - Reactome - Q9ULP9 - - - Ensembl - ENSG00000162065 - - - Genatlas - TBC1D24 - - - HGNC - 29203 - - - OMIM - 613577 - - - SwissProt - Q9ULP9 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - tight junction protein 2 - TJP2 - - Friedreich ataxia region gene X104 (tight junction protein ZO-2) - X104 - ZO-2 - ZO2 - zona occludens 2 - - - gene with protein product - - - - Ensembl - ENSG00000119139 - - - Genatlas - TJP2 - - - HGNC - 11828 - - - OMIM - 607709 - - - Reactome - Q9UDY2 - - - SwissProt - Q9UDY2 - - - ClinVar - TJP2 - - - - - 9q21.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21368133[PMID] - - CEA cell adhesion molecule 16, tectorial membrane component - CEACAM16 - - DFNA4B - - - gene with protein product - - - - Ensembl - ENSG00000213892 - - - Genatlas - CEACAM16 - - - HGNC - 31948 - - - OMIM - 614591 - - - SwissProt - Q2WEN9 - - - ClinVar - CEACAM16 - - - - - 19q13.31-q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20624953[PMID] - - diaphanous related formin 3 - DIAPH3 - - AN - DRF3 - FLJ34705 - NSDAN - - - gene with protein product - - - - ClinVar - DIAPH3 - - - Ensembl - ENSG00000139734 - - - Genatlas - DIAPH3 - - - HGNC - 15480 - - - OMIM - 614567 - - - Reactome - Q9NSV4 - - - SwissProt - Q9NSV4 - - - - - 13q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21722859[PMID]_24148127[PMID] - - diablo IAP-binding mitochondrial protein - DIABLO - - DFNA64 - DIABLO-S - FLJ10537 - FLJ25049 - SMAC - second mitochondria-derived activator of caspase - - - gene with protein product - - - - Ensembl - ENSG00000184047 - - - Genatlas - DIABLO - - - HGNC - 21528 - - - OMIM - 605219 - - - Reactome - Q9NR28 - - - SwissProt - Q9NR28 - - - ClinVar - DIABLO - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23345450[PMID]_20301607[PMID] - - purinergic receptor P2X 2 - P2RX2 - - P2X2 - - - gene with protein product - - - - Reactome - Q9UBL9 - - - ClinVar - P2RX2 - - - Ensembl - ENSG00000187848 - - - Genatlas - P2RX2 - - - HGNC - 15459 - - - IUPHAR - 479 - - - OMIM - 600844 - - - SwissProt - Q9UBL9 - - - - - 12q24.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23936043[PMID] - - tenascin C - TNC - - MGC167029 - TN - hexabrachion (tenascin) - - - gene with protein product - - - - Ensembl - ENSG00000041982 - - - Genatlas - TNC - - - HGNC - 5318 - - - OMIM - 187380 - - - Reactome - P24821 - - - SwissProt - P24821 - - - ClinVar - TNC - - - - - 9q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19027848[PMID]_24148127[PMID] - - myosin IC - MYO1C - - myr2 - NMI - Unconventional myosin-Ic - MyoIC - - - gene with protein product - - - - Reactome - O00159 - - - SwissProt - O00159 - - - Ensembl - ENSG00000197879 - - - Genatlas - MYO1C - - - HGNC - 7597 - - - OMIM - 606538 - - - ClinVar - MYO1C - - - - - 17p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25077649[PMID] - - oxysterol binding protein like 2 - OSBPL2 - - DFNA67 - KIAA0772 - ORP-2 - - - gene with protein product - - - - ClinVar - OSBPL2 - - - Reactome - Q9H1P3 - - - Genatlas - OSBPL2 - - - HGNC - 15761 - - - OMIM - 606731 - - - SwissProt - Q9H1P3 - - - Ensembl - ENSG00000130703 - - - - - 20q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25816005[PMID] - - homer scaffold protein 2 - HOMER2 - - CPD - Cupidin - HOMER-2 - HOMER-2A - HOMER-2B - Vesl-2 - DFNA68 - - - gene with protein product - - - - Reactome - Q9NSB8 - - - Ensembl - ENSG00000103942 - - - Genatlas - HOMER2 - - - HGNC - 17513 - - - OMIM - 604799 - - - SwissProt - Q9NSB8 - - - ClinVar - HOMER2 - - - - - 15q25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26196677[PMID] - - minichromosome maintenance complex component 2 - MCM2 - - DFNA70 - BM28 - cdc19 - D3S3194 - KIAA0030 - mitotin - - - gene with protein product - - - - HGNC - 6944 - - - ClinVar - MCM2 - - - OMIM - 116945 - - - Genatlas - MCM2 - - - SwissProt - P49736 - - - Reactome - P49736 - - - Ensembl - ENSG00000073111 - - - - - 3q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26197441[PMID] - - CD164 molecule - CD164 - - deafness, autosomal dominant 66 - DFNA66 - MGC-24 - MUC-24 - multi-glycosylated core protein 24 - MGC-24v - Sialomucin core protein 24 - Endolyn - - - gene with protein product - - - - OMIM - 603356 - - - Genatlas - CD164 - - - SwissProt - Q04900 - - - Ensembl - ENSG00000135535 - - - HGNC - 1632 - - - ClinVar - CD164 - - - Reactome - Q04900 - - - - - 6q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31273342[PMID] - - ATP binding cassette subfamily C member 1 (ABCC1 blood group) - ABCC1 - - glutathione S-conjugate export pump - GS-X - - - gene with protein product - - - - OMIM - 158343 - - - Genatlas - ABCC1 - - - Ensembl - ENSG00000103222 - - - IUPHAR - 779 - - - ClinVar - ABCC1 - - - SwissProt - P33527 - - - Reactome - P33527 - - - HGNC - 51 - - - - - 16p13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29309402[PMID] - - protein tyrosine phosphatase receptor type Q - PTPRQ - - phosphatidylinositol phosphatase PTPRQ - - - gene with protein product - - - - IUPHAR - 1864 - - - Ensembl - ENSG00000139304 - - - Genatlas - PTPRQ - - - HGNC - 9679 - - - OMIM - 603317 - - - SwissProt - Q9UMZ3 - - - ClinVar - PTPRQ - - - - - 12q21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31397523[PMID]_30872814[PMID] - - plastin 1 - PLS1 - - I-plastin - Plastin-1 - fimbrin - - - gene with protein product - - - - HGNC - 9090 - - - Ensembl - ENSG00000120756 - - - SwissProt - Q14651 - - - Reactome - Q14651 - - - OMIM - 602734 - - - - - 3q23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33268592[PMID] - - microtubule associated protein 1B - MAP1B - - MAP5 - PPP1R102 - protein phosphatase 1, regulatory subunit 102 - - - gene with protein product - - - - HGNC - 6836 - - - Ensembl - ENSG00000131711 - - - SwissProt - P46821 - - - OMIM - 157129 - - - Genatlas - MAP1B - - - Reactome - P46821 - - - ClinVar - MAP1B - - - - - 5q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27657680[PMID] - - Dmx like 2 - DMXL2 - - DFNA71 - KIAA0856 - rabconnectin 3 - RC3 - - - gene with protein product - - - - HGNC - 2938 - - - OMIM - 612186 - - - Genatlas - DMXL2 - - - SwissProt - Q8TDJ6 - - - Ensembl - ENSG00000104093 - - - ClinVar - DMXL2 - - - - - 15q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - myosin IA - MYO1A - - Unconventional myosin-Ia - Brush border myosin I - - - gene with protein product - - - - ClinVar - MYO1A - - - Ensembl - ENSG00000166866 - - - Genatlas - MYO1A - - - HGNC - 7595 - - - OMIM - 601478 - - - SwissProt - Q9UBC5 - - - - - 12q13.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 90636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90636 - Rare autosomal recessive non-syndromic sensorineural deafness type DFNB - - Etiological subtype - - - Subtype of disorder - - - - 29590114[PMID] - - diphosphoinositol pentakisphosphate kinase 2 - PPIP5K2 - - KIAA0433 - VIP2 - CFAP160 - - - gene with protein product - - - - HGNC - 29035 - - - Ensembl - ENSG00000145725 - - - SwissProt - O43314 - - - Reactome - O43314 - - - OMIM - 611648 - - - - - 5q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25331638[PMID] - - transmembrane protein 132E - TMEM132E - - DFNB99 - - - gene with protein product - - - - HGNC - 26991 - - - Ensembl - ENSG00000181291 - - - SwissProt - Q6IEE7 - - - OMIM - 616178 - - - - - 17q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30610177[PMID] - - GRB2 related adaptor protein - GRAP - - - - gene with protein product - - - - Ensembl - ENSG00000154016 - - - SwissProt - Q13588 - - - Reactome - Q13588 - - - HGNC - 4562 - - - OMIM - 604330 - - - - - 17p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24312468[PMID] - - BDP1 general transcription factor IIIB subunit - BDP1 - - KIAA1241 - HSA238520 - KIAA1689 - TFIIIB90 - TFIIIB150 - TFC5 - - - gene with protein product - - - - SwissProt - A6H8Y1 - - - Genatlas - BDP1 - - - ClinVar - BDP1 - - - OMIM - 607012 - - - Ensembl - ENSG00000145734 - - - HGNC - 13652 - - - Reactome - A6H8Y1 - - - - - 5q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34626583[PMID] - - AFG2 AAA ATPase homolog B - AFG2B - - MGC5347 - FLJ12286 - - - gene with protein product - - - - HGNC - 28762 - - - Ensembl - ENSG00000171763 - - - OMIM - 619578 - - - SwissProt - Q9BVQ7 - - - - - 15q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29703829[PMID] - - CEA cell adhesion molecule 16, tectorial membrane component - CEACAM16 - - DFNA4B - - - gene with protein product - - - - Ensembl - ENSG00000213892 - - - Genatlas - CEACAM16 - - - HGNC - 31948 - - - OMIM - 614591 - - - SwissProt - Q2WEN9 - - - ClinVar - CEACAM16 - - - - - 19q13.31-q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25807530[PMID] - - asparaginyl-tRNA synthetase 2, mitochondrial - NARS2 - - FLJ23441 - SLM5 - asparagine tRNA ligase 2, mitochondrial (putative) - - - gene with protein product - - - - Ensembl - ENSG00000137513 - - - HGNC - 26274 - - - OMIM - 612803 - - - Reactome - Q96I59 - - - SwissProt - Q96I59 - - - - - 11q14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27162350[PMID] - - receptor tyrosine kinase like orphan receptor 1 - ROR1 - - - - gene with protein product - - - - IUPHAR - 1845 - - - ClinVar - ROR1 - - - HGNC - 10256 - - - Ensembl - ENSG00000185483 - - - SwissProt - Q01973 - - - OMIM - 602336 - - - Genatlas - ROR1 - - - Reactome - Q01973 - - - - - 1p31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26881968[PMID] - - WW domain binding protein 2 - WBP2 - - GRAMD6 - WBP-2 - - - gene with protein product - - - - SwissProt - Q969T9 - - - OMIM - 606962 - - - Genatlas - WBP2 - - - Reactome - Q969T9 - - - ClinVar - WBP2 - - - HGNC - 12738 - - - Ensembl - ENSG00000132471 - - - - - 17q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26282398[PMID] - - EPS8 signaling adaptor L2 - EPS8L2 - - FLJ21935 - FLJ22171 - MGC3088 - Epidermal growth factor receptor kinase substrate 8-like protein 2 - - - gene with protein product - - - - ClinVar - EPS8L2 - - - HGNC - 21296 - - - Ensembl - ENSG00000177106 - - - SwissProt - Q9H6S3 - - - OMIM - 614988 - - - Genatlas - EPS8L2 - - - - - 11p15.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - solute carrier family 26 member 4 - SLC26A4 - - PDS - pendrin - Pendred syndrome - - - gene with protein product - - - - IUPHAR - 1100 - - - Ensembl - ENSG00000091137 - - - Genatlas - SLC26A4 - - - HGNC - 8818 - - - OMIM - 605646 - - - Reactome - O43511 - - - SwissProt - O43511 - - - ClinVar - SLC26A4 - - - - - 7q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID] - - barttin CLCNK type accessory subunit beta - BSND - - BART - - - gene with protein product - - - - Ensembl - ENSG00000162399 - - - Genatlas - BSND - - - HGNC - 16512 - - - OMIM - 606412 - - - Reactome - Q8WZ55 - - - SwissProt - Q8WZ55 - - - ClinVar - BSND - - - - - 1p32.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - cadherin related 23 - CDH23 - - CDHR23 - cadherin-related family member 23 - - - gene with protein product - - - - Ensembl - ENSG00000107736 - - - Genatlas - CDH23 - - - HGNC - 13733 - - - OMIM - 605516 - - - SwissProt - Q9H251 - - - ClinVar - CDH23 - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - tectorin alpha - TECTA - - - - gene with protein product - - - - Ensembl - ENSG00000109927 - - - Genatlas - TECTA - - - HGNC - 11720 - - - OMIM - 602574 - - - SwissProt - O75443 - - - Reactome - O75443 - - - ClinVar - TECTA - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - transmembrane channel like 1 - TMC1 - - - - gene with protein product - - - - ClinVar - TMC1 - - - HGNC - 16513 - - - OMIM - 606706 - - - SwissProt - Q8TDI8 - - - Ensembl - ENSG00000165091 - - - Genatlas - TMC1 - - - - - 9q21.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - transmembrane inner ear - TMIE - - - - gene with protein product - - - - ClinVar - TMIE - - - Ensembl - ENSG00000181585 - - - Genatlas - TMIE - - - HGNC - 30800 - - - OMIM - 607237 - - - SwissProt - Q8NEW7 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - transmembrane serine protease 3 - TMPRSS3 - - - - gene with protein product - - - - ClinVar - TMPRSS3 - - - Ensembl - ENSG00000160183 - - - Genatlas - TMPRSS3 - - - HGNC - 11877 - - - OMIM - 605511 - - - SwissProt - P57727 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - USH1 protein network component harmonin - USH1C - - AIE-75 - NY-CO-37 - NY-CO-38 - PDZ-73 - PDZ73 - PDZD7C - harmonin - - - gene with protein product - - - - ClinVar - USH1C - - - Ensembl - ENSG00000006611 - - - Genatlas - USH1C - - - HGNC - 12597 - - - OMIM - 605242 - - - SwissProt - Q9Y6N9 - - - Reactome - Q9Y6N9 - - - - - 11p15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - collagen type XI alpha 2 chain - COL11A2 - - HKE5 - - - gene with protein product - - - - ClinVar - COL11A2 - - - Ensembl - ENSG00000204248 - - - Genatlas - COL11A2 - - - HGNC - 2187 - - - OMIM - 120290 - - - Reactome - P13942 - - - SwissProt - P13942 - - - - - 6p21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24039609[PMID] - - ELMO domain containing 3 - ELMOD3 - - FLJ21977 - - - gene with protein product - - - - Ensembl - ENSG00000115459 - - - Genatlas - ELMOD3 - - - HGNC - 26158 - - - OMIM - 615427 - - - SwissProt - Q96FG2 - - - ClinVar - ELMOD3 - - - - - 2p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - gap junction protein beta 2 - GJB2 - - CX26 - NSRD1 - connexin 26 - - - gene with protein product - - - - ClinVar - GJB2 - - - Ensembl - ENSG00000165474 - - - Genatlas - GJB2 - - - HGNC - 4284 - - - OMIM - 121011 - - - Reactome - P29033 - - - SwissProt - P29033 - - - IUPHAR - 716 - - - - - 13q12.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 10587579[PMID] - - gap junction protein beta 3 - GJB3 - - CX31 - connexin 31 - - - gene with protein product - - - - HGNC - 4285 - - - OMIM - 603324 - - - Reactome - O75712 - - - SwissProt - O75712 - - - ClinVar - GJB3 - - - Ensembl - ENSG00000188910 - - - Genatlas - GJB3 - - - IUPHAR - 720 - - - - - 1p34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - gap junction protein beta 6 - GJB6 - - CX30 - EDH - HED - connexin 30 - - - gene with protein product - - - - ClinVar - GJB6 - - - Ensembl - ENSG00000121742 - - - Genatlas - GJB6 - - - HGNC - 4288 - - - OMIM - 604418 - - - Reactome - O95452 - - - SwissProt - O95452 - - - IUPHAR - 717 - - - - - 13q12.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25941349[PMID] - - MET proto-oncogene, receptor tyrosine kinase - MET - - DFNB97 - HGFR - RCCP2 - hepatocyte growth factor receptor - - - gene with protein product - - - - Ensembl - ENSG00000105976 - - - Genatlas - MET - - - HGNC - 7029 - - - IUPHAR - 1815 - - - OMIM - 164860 - - - Reactome - P08581 - - - SwissProt - P08581 - - - ClinVar - MET - - - - - 7q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - myosin XVA - MYO15A - - - - gene with protein product - - - - ClinVar - MYO15A - - - Ensembl - ENSG00000091536 - - - Genatlas - MYO15A - - - HGNC - 7594 - - - OMIM - 602666 - - - SwissProt - Q9UKN7 - - - - - 17p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - myosin VI - MYO6 - - KIAA0389 - - - gene with protein product - - - - Ensembl - ENSG00000196586 - - - Genatlas - MYO6 - - - HGNC - 7605 - - - OMIM - 600970 - - - Reactome - Q9UM54 - - - SwissProt - Q9UM54 - - - ClinVar - MYO6 - - - - - 6q14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - myosin VIIA - MYO7A - - NSRD2 - - - gene with protein product - - - - Ensembl - ENSG00000137474 - - - ClinVar - MYO7A - - - Genatlas - MYO7A - - - HGNC - 7606 - - - OMIM - 276903 - - - Reactome - Q13402 - - - SwissProt - Q13402 - - - - - 11q13.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - otoferlin - OTOF - - DFNB6 - FER1L2 - fer-1-like family member 2 - - - gene with protein product - - - - Ensembl - ENSG00000115155 - - - Genatlas - OTOF - - - HGNC - 8515 - - - OMIM - 603681 - - - SwissProt - Q9HC10 - - - ClinVar - OTOF - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - protocadherin related 15 - PCDH15 - - CDHR15 - cadherin-related family member 15 - - - gene with protein product - - - - Ensembl - ENSG00000150275 - - - Genatlas - PCDH15 - - - HGNC - 14674 - - - OMIM - 605514 - - - SwissProt - Q96QU1 - - - ClinVar - PCDH15 - - - - - 10q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - whirlin - WHRN - - CIP98 - PDZD7B - USH2D - - - gene with protein product - - - - ClinVar - DFNB31 - - - Ensembl - ENSG00000095397 - - - Genatlas - DFNB31 - - - HGNC - 16361 - - - OMIM - 607928 - - - SwissProt - Q9P202 - - - Reactome - Q9P202 - - - - - 9q32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - stereocilin - STRC - - - - gene with protein product - - - - ClinVar - STRC - - - SwissProt - Q7RTU9 - - - Ensembl - ENSG00000242866 - - - Genatlas - STRC - - - HGNC - 16035 - - - OMIM - 606440 - - - - - 15q15.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - TRIO and F-actin binding protein - TRIOBP - - HRIHFB2122 - KIAA1662 - TAP68 - Tara - - - gene with protein product - - - - ClinVar - TRIOBP - - - Ensembl - ENSG00000100106 - - - Genatlas - TRIOBP - - - HGNC - 17009 - - - OMIM - 609761 - - - SwissProt - Q9H2D6 - - - - - 22q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - radixin - RDX - - - - gene with protein product - - - - ClinVar - RDX - - - Ensembl - ENSG00000137710 - - - Genatlas - RDX - - - HGNC - 9944 - - - OMIM - 179410 - - - Reactome - P35241 - - - SwissProt - P35241 - - - - - 11q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - LHFPL tetraspan subfamily member 5 - LHFPL5 - - MGC33835 - Tmhs - dJ510O8.8 - tetraspan membrane protein of hair cell stereocilia - - - gene with protein product - - - - Reactome - Q8TAF8 - - - ClinVar - LHFPL5 - - - Genatlas - LHFPL5 - - - HGNC - 21253 - - - OMIM - 609427 - - - SwissProt - Q8TAF8 - - - Ensembl - ENSG00000197753 - - - - - 6p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - espin - ESPN - - - - gene with protein product - - - - Ensembl - ENSG00000187017 - - - Genatlas - ESPN - - - HGNC - 13281 - - - OMIM - 606351 - - - SwissProt - B1AK53 - - - ClinVar - ESPN - - - - - 1p36.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - estrogen related receptor beta - ESRRB - - ERR2 - ERRb - ERRbeta - NR3B2 - - - gene with protein product - - - - Ensembl - ENSG00000119715 - - - Genatlas - ESRRB - - - HGNC - 3473 - - - IUPHAR - 623 - - - OMIM - 602167 - - - Reactome - O95718 - - - SwissProt - O95718 - - - ClinVar - ESRRB - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - MARVEL domain containing 2 - MARVELD2 - - FLJ30532 - TRIC - tricellulin - - - gene with protein product - - - - Ensembl - ENSG00000152939 - - - Genatlas - MARVELD2 - - - HGNC - 26401 - - - OMIM - 610572 - - - SwissProt - Q8N4S9 - - - ClinVar - MARVELD2 - - - - - 5q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - myosin IIIA - MYO3A - - - - gene with protein product - - - - Ensembl - ENSG00000095777 - - - Genatlas - MYO3A - - - HGNC - 7601 - - - IUPHAR - 2112 - - - OMIM - 606808 - - - SwissProt - Q8NEV4 - - - ClinVar - MYO3A - - - - - 10p12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - solute carrier family 26 member 5 - SLC26A5 - - PRESTIN - DFNB61 - deafness, neurosensory, autosomal recessive, 61 - - - gene with protein product - - - - IUPHAR - 1104 - - - ClinVar - SLC26A5 - - - Ensembl - ENSG00000170615 - - - Genatlas - SLC26A5 - - - HGNC - 9359 - - - OMIM - 604943 - - - SwissProt - P58743 - - - - - 7q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - otoancorin - OTOA - - CT108 - cancer/testis antigen 108 - - - gene with protein product - - - - Reactome - Q7RTW8 - - - ClinVar - OTOA - - - Ensembl - ENSG00000155719 - - - Genatlas - OTOA - - - HGNC - 16378 - - - OMIM - 607038 - - - SwissProt - Q7RTW8 - - - - - 16p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - pejvakin - PJVK - - - - gene with protein product - - - - ClinVar - DFNB59 - - - Ensembl - ENSG00000204311 - - - Genatlas - DFNB59 - - - HGNC - 29502 - - - OMIM - 610219 - - - SwissProt - Q0ZLH3 - - - - - 2q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - claudin 14 - CLDN14 - - - - gene with protein product - - - - ClinVar - CLDN14 - - - Ensembl - ENSG00000159261 - - - Genatlas - CLDN14 - - - HGNC - 2035 - - - OMIM - 605608 - - - Reactome - O95500 - - - SwissProt - O95500 - - - - - 21q22.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - leucine rich transmembrane and O-methyltransferase domain containing - LRTOMT - - CFAP111 - COMT2 - LRTOMT1 - LRTOMT2 - - - gene with protein product - - - - Ensembl - ENSG00000184154 - - - Genatlas - LRTOMT - - - HGNC - 25033 - - - OMIM - 612414 - - - SwissProt - Q8WZ04 - - - Reactome - Q8WZ04 - - - ClinVar - LRTOMT - - - - - 11q13.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - hepatocyte growth factor - HGF - - F-TCF - HGFB - HPTA - SF - fibroblast-derived tumor cytotoxic factor - hepatopoietin A - lung fibroblast-derived mitogen - scatter factor - - - gene with protein product - - - - Ensembl - ENSG00000019991 - - - Genatlas - HGF - - - HGNC - 4893 - - - OMIM - 142409 - - - Reactome - P14210 - - - SwissProt - P14210 - - - ClinVar - HGF - - - - - 7q21.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - lipoxygenase homology PLAT domains 1 - LOXHD1 - - FLJ32670 - LH2D1 - - - gene with protein product - - - - Ensembl - ENSG00000167210 - - - Genatlas - LOXHD1 - - - HGNC - 26521 - - - OMIM - 613072 - - - SwissProt - Q8IVV2 - - - ClinVar - LOXHD1 - - - - - 18q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - glutaredoxin and cysteine rich domain containing 1 - GRXCR1 - - PPP1R88 - protein phosphatase 1, regulatory subunit 88 - - - gene with protein product - - - - Ensembl - ENSG00000215203 - - - Genatlas - GRXCR1 - - - HGNC - 31673 - - - OMIM - 613283 - - - SwissProt - A8MXD5 - - - ClinVar - GRXCR1 - - - Reactome - A8MXD5 - - - - - 4p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - taperin - TPRN - - FLJ90254 - - - gene with protein product - - - - ClinVar - TPRN - - - Ensembl - ENSG00000176058 - - - Genatlas - TPRN - - - HGNC - 26894 - - - OMIM - 613354 - - - SwissProt - Q4KMQ1 - - - Reactome - Q4KMQ1 - - - - - 9q34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - protein tyrosine phosphatase receptor type Q - PTPRQ - - phosphatidylinositol phosphatase PTPRQ - - - gene with protein product - - - - IUPHAR - 1864 - - - Ensembl - ENSG00000139304 - - - Genatlas - PTPRQ - - - HGNC - 9679 - - - OMIM - 603317 - - - SwissProt - Q9UMZ3 - - - ClinVar - PTPRQ - - - - - 12q21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24148127[PMID] - - serpin family B member 6 - SERPINB6 - - placental thrombin inhibitor - CAP - PTI - cytoplasmic antiproteinase - - - gene with protein product - - - - Ensembl - ENSG00000124570 - - - Genatlas - SERPINB6 - - - HGNC - 8950 - - - OMIM - 173321 - - - Reactome - P35237 - - - SwissProt - P35237 - - - ClinVar - SERPINB6 - - - - - 6p25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24387994[PMID] - - TBC1 domain family member 24 - TBC1D24 - - DFNA65 - KIAA1171 - TBC/LysM-associated domain containing 6 - TLDC6 - skywalker homolog (Drosophila) - deafness, autosomal dominant 65 - - - gene with protein product - - - - ClinVar - TBC1D24 - - - Reactome - Q9ULP9 - - - Ensembl - ENSG00000162065 - - - Genatlas - TBC1D24 - - - HGNC - 29203 - - - OMIM - 613577 - - - SwissProt - Q9ULP9 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - G protein signaling modulator 2 - GPSM2 - - LGN - Pins - - - gene with protein product - - - - Reactome - P81274 - - - ClinVar - GPSM2 - - - SwissProt - P81274 - - - Ensembl - ENSG00000121957 - - - Genatlas - GPSM2 - - - HGNC - 29501 - - - OMIM - 609245 - - - - - 1p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24148127[PMID] - - methionine sulfoxide reductase B3 - MSRB3 - - DKFZp686C1178 - FLJ36866 - - - gene with protein product - - - - Ensembl - ENSG00000174099 - - - Genatlas - MSRB3 - - - HGNC - 27375 - - - OMIM - 613719 - - - Reactome - Q8IXL7 - - - SwissProt - Q8IXL7 - - - ClinVar - MSRB3 - - - - - 12q14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24148127[PMID] - - immunoglobulin like domain containing receptor 1 - ILDR1 - - MGC50831 - angulin-2 - - - gene with protein product - - - - Ensembl - ENSG00000145103 - - - Genatlas - ILDR1 - - - HGNC - 28741 - - - OMIM - 609739 - - - SwissProt - Q86SU0 - - - ClinVar - ILDR1 - - - - - 3q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23768514[PMID] - - lysyl-tRNA synthetase 1 - KARS1 - - KARS1 - KARS2 - lysine tRNA ligase - - - gene with protein product - - - - ClinVar - KARS - - - Ensembl - ENSG00000065427 - - - Genatlas - KARS - - - HGNC - 6215 - - - OMIM - 601421 - - - Reactome - Q15046 - - - SwissProt - Q15046 - - - - - 16q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24148127[PMID] - - GIPC PDZ domain containing family member 3 - GIPC3 - - DFNB95 - - - gene with protein product - - - - ClinVar - GIPC3 - - - Ensembl - ENSG00000179855 - - - Genatlas - GIPC3 - - - HGNC - 18183 - - - OMIM - 608792 - - - SwissProt - Q8TF64 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23023331[PMID]_24148127[PMID] - - calcium and integrin binding family member 2 - CIB2 - - KIP2 - kinase interacting protein 2 - - - gene with protein product - - - - Ensembl - ENSG00000136425 - - - Genatlas - CIB2 - - - HGNC - 24579 - - - OMIM - 605564 - - - SwissProt - O75838 - - - ClinVar - CIB2 - - - - - 15q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22981119[PMID] - - calcium binding protein 2 - CABP2 - - - - gene with protein product - - - - HGNC - 1385 - - - OMIM - 607314 - - - SwissProt - Q9NPB3 - - - Ensembl - ENSG00000167791 - - - Genatlas - CABP2 - - - ClinVar - CABP2 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23122587[PMID] - - otogelin - OTOG - - FLJ46346 - OTGN - mlemp - - - gene with protein product - - - - Ensembl - ENSG00000188162 - - - Genatlas - OTOG - - - HGNC - 8516 - - - OMIM - 604487 - - - SwissProt - Q6ZRI0 - - - ClinVar - OTOG - - - - - 11p15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23084290[PMID] - - polyribonucleotide nucleotidyltransferase 1 - PNPT1 - - 3'-5' RNA exonuclease - OLD35 - PNPase - Polynucleotide phosphorylase - old-35 - polynucleotide phosphorylase - - - gene with protein product - - - - ClinVar - PNPT1 - - - Ensembl - ENSG00000138035 - - - Genatlas - PNPT1 - - - HGNC - 23166 - - - OMIM - 610316 - - - SwissProt - Q8TCS8 - - - - - 2p16.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23122586[PMID] - - otogelin like - OTOGL - - FLJ90579 - - - gene with protein product - - - - Ensembl - ENSG00000165899 - - - Genatlas - OTOGL - - - HGNC - 26901 - - - OMIM - 614925 - - - SwissProt - Q3ZCN5 - - - ClinVar - OTOGL - - - - - 12q21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23348741[PMID]_20301607[PMID] - - spectrin repeat containing nuclear envelope family member 4 - SYNE4 - - FLJ36445 - Nesp4 - Nesprin-4 - - - gene with protein product - - - - Ensembl - ENSG00000181392 - - - Genatlas - C19orf46 - - - HGNC - 26703 - - - OMIM - 615535 - - - SwissProt - Q8N205 - - - Reactome - Q8N205 - - - ClinVar - C19orf46 - - - - - 19q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23543054[PMID] - - SLIT and NTRK like family member 6 - SLITRK6 - - FLJ22774 - - - gene with protein product - - - - Reactome - Q9H5Y7 - - - ClinVar - SLITRK6 - - - Ensembl - ENSG00000184564 - - - Genatlas - SLITRK6 - - - HGNC - 23503 - - - OMIM - 609681 - - - SwissProt - Q9H5Y7 - - - - - 13q31.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24619944[PMID] - - glutaredoxin and cysteine rich domain containing 2 - GRXCR2 - - DFNB101 - - - gene with protein product - - - - Ensembl - ENSG00000204928 - - - HGNC - 33862 - - - OMIM - 615762 - - - SwissProt - A6NFK2 - - - - - 5q32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24741995[PMID] - - EGFR pathway substrate 8, signaling adaptor - EPS8 - - - - gene with protein product - - - - Reactome - Q12929 - - - HGNC - 3420 - - - OMIM - 600206 - - - SwissProt - Q12929 - - - Ensembl - ENSG00000151491 - - - Genatlas - EPS8 - - - ClinVar - EPS8 - - - - - 12p12.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24482543[PMID] - - adenylate cyclase 1 - ADCY1 - - AC1 - adenylyl cyclase subtype 1 - - - gene with protein product - - - - IUPHAR - 1278 - - - ClinVar - ADCY1 - - - Ensembl - ENSG00000164742 - - - Genatlas - ADCY1 - - - HGNC - 232 - - - OMIM - 103072 - - - Reactome - Q08828 - - - SwissProt - Q08828 - - - - - 7p12.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24781754[PMID] - - chloride intracellular channel 5 - CLIC5 - - DFNB102 - - - gene with protein product - - - - ClinVar - CLIC5 - - - Ensembl - ENSG00000112782 - - - Genatlas - CLIC5 - - - HGNC - 13517 - - - OMIM - 607293 - - - SwissProt - Q9NZA1 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24958875[PMID] - - RHO family interacting cell polarization regulator 2 - RIPOR2 - - DIFF48 - KIAA0386 - MYONAP - myogenesis-related and NCAM-associated protein homolog (chicken) - - - gene with protein product - - - - Reactome - Q9Y4F9 - - - SwissProt - Q9Y4F9 - - - Ensembl - ENSG00000111913 - - - Genatlas - FAM65B - - - HGNC - 13872 - - - OMIM - 611410 - - - ClinVar - FAM65B - - - - - 6p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25601850[PMID] - - doublecortin domain containing 2 - DCDC2 - - DCDC2A - KIAA1154 - NPHP19 - RU2 - nephronophthisis 19 - - - gene with protein product - - - - Ensembl - ENSG00000146038 - - - Genatlas - DCDC2 - - - HGNC - 18141 - - - OMIM - 605755 - - - SwissProt - Q9UHG0 - - - Reactome - Q9UHG0 - - - ClinVar - DCDC2 - - - - - 6p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15829536[PMID] - - ATPase plasma membrane Ca2+ transporting 2 - ATP2B2 - - PMCA2 - plasma membrane Ca2+ pump 2 - plasma membrane calcium-transporting ATPase 2 - - - gene with protein product - - - - Ensembl - ENSG00000157087 - - - Genatlas - ATP2B2 - - - HGNC - 815 - - - IUPHAR - 844 - - - OMIM - 108733 - - - Reactome - Q01814 - - - SwissProt - Q01814 - - - ClinVar - ATP2B2 - - - - - 3p25.3 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 26805784[PMID] - - sphingosine-1-phosphate receptor 2 - S1PR2 - - AGR16 - Gpcr13 - H218 - - - gene with protein product - - - - Ensembl - ENSG00000267534 - - - Genatlas - S1PR2 - - - HGNC - 3169 - - - IUPHAR - 276 - - - OMIM - 605111 - - - Reactome - O95136 - - - SwissProt - O95136 - - - ClinVar - S1PR2 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 29961571[PMID] - - myelin protein zero like 2 - MPZL2 - - EVA - - - gene with protein product - - - - HGNC - 3496 - - - Ensembl - ENSG00000149573 - - - SwissProt - O60487 - - - OMIM - 604873 - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27259055[PMID] - - cell division cycle 14A - CDC14A - - cdc14 - Cdc14A1 - Cdc14A2 - DFNB105 - - - gene with protein product - - - - ClinVar - CDC14A - - - HGNC - 1718 - - - OMIM - 603504 - - - Genatlas - CDC14A - - - SwissProt - Q9UNH5 - - - Reactome - Q9UNH5 - - - Ensembl - ENSG00000079335 - - - - - 1p21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 11741837[PMID] - - gap junction protein alpha 1 - GJA1 - - CX43 - ODD - ODOD - SDTY3 - connexin 43 - oculodentodigital dysplasia (syndactyly type III) - - - gene with protein product - - - - ClinVar - GJA1 - - - Ensembl - ENSG00000152661 - - - Genatlas - GJA1 - - - HGNC - 4274 - - - OMIM - 121014 - - - Reactome - P17302 - - - SwissProt - P17302 - - - IUPHAR - 728 - - - - - 6q22.31 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 35727972[PMID] - - membrane integral NOTCH2 associated receptor 2 - MINAR2 - - Major intrinsically disordered NOTCH2-binding receptor 1-like - - - gene with protein product - - - - Ensembl - ENSG00000186367 - - - HGNC - 33914 - - - OMIM - 620215 - - - SwissProt - P59773 - - - - - 5q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 529574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529574 - Duane retraction syndrome with congenital deafness - - Malformation syndrome - - - Disorder - - - - 27181683[PMID] - - MAF bZIP transcription factor B - MAFB - - - - gene with protein product - - - - Ensembl - ENSG00000204103 - - - Genatlas - MAFB - - - HGNC - 6408 - - - OMIM - 608968 - - - Reactome - Q9Y5Q3 - - - SwissProt - Q9Y5Q3 - - - ClinVar - MAFB - - - - - 20q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90368 - Hypotrichosis simplex of the scalp - - Disease - - - Disorder - - - - 21188418[PMID] - - keratin 74 - KRT74 - - K6IRS4 - KRT5C - KRT6IRS4 - - - gene with protein product - - - - Ensembl - ENSG00000170484 - - - Genatlas - KRT74 - - - HGNC - 28929 - - - OMIM - 608248 - - - SwissProt - Q7RTS7 - - - ClinVar - KRT74 - - - Reactome - Q7RTS7 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12754508[PMID] - - corneodesmosin - CDSN - - D6S586E - - - gene with protein product - - - - Ensembl - ENSG00000204539 - - - Genatlas - CDSN - - - HGNC - 1802 - - - OMIM - 602593 - - - SwissProt - Q15517 - - - ClinVar - CDSN - - - Reactome - Q15517 - - - - - 6p21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90389 - Telangiectasia macularis eruptiva perstans - - Clinical subtype - - - Subtype of disorder - - - - - - KIT proto-oncogene, receptor tyrosine kinase - KIT - - C-Kit - CD117 - SCFR - mast/stem cell growth factor receptor Kit - - - gene with protein product - - - - ClinVar - KIT - - - Ensembl - ENSG00000157404 - - - Genatlas - KIT - - - HGNC - 6342 - - - IUPHAR - 1805 - - - OMIM - 164920 - - - Reactome - P10721 - - - SwissProt - P10721 - - - - - 4q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90653 - Stickler syndrome type 1 - - Clinical subtype - - - Subtype of disorder - - - - 9800905[PMID]_21671392[PMID] - - collagen type II alpha 1 chain - COL2A1 - - STL1 - - - gene with protein product - - - - ClinVar - COL2A1 - - - Ensembl - ENSG00000139219 - - - Genatlas - COL2A1 - - - HGNC - 2200 - - - OMIM - 120140 - - - Reactome - P02458 - - - SwissProt - P02458 - - - - - 12q13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652 - Otopalatodigital syndrome type 2 - - Malformation syndrome - - - Disorder - - - - 20301567[PMID] - - filamin A - FLNA - - ABP-280 - actin binding protein 280 - alpha filamin - - - gene with protein product - - - - Ensembl - ENSG00000196924 - - - Genatlas - FLNA - - - HGNC - 3754 - - - OMIM - 300017 - - - Reactome - P21333 - - - SwissProt - P21333 - - - ClinVar - FLNA - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 90654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90654 - Stickler syndrome type 2 - - Clinical subtype - - - Subtype of disorder - - - - - - collagen type XI alpha 1 chain - COL11A1 - - CO11A1 - STL2 - collagen XI, alpha-1 polypeptide - - - gene with protein product - - - - ClinVar - COL11A1 - - - Ensembl - ENSG00000060718 - - - Genatlas - COL11A1 - - - HGNC - 2186 - - - OMIM - 120280 - - - Reactome - P12107 - - - SwissProt - P12107 - - - - - 1p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 529665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529665 - Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome - - Malformation syndrome - - - Disorder - - - - 29100095[PMID] - - glycosylphosphatidylinositol anchor attachment 1 - GPAA1 - - GPI transamidase subunit - GAA1 - hGAA1 - - - gene with protein product - - - - HGNC - 4446 - - - Ensembl - ENSG00000197858 - - - SwissProt - O43292 - - - Reactome - O43292 - - - OMIM - 603048 - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90647 - Jervell and Lange-Nielsen syndrome - - Disease - - - Disorder - - - - 20301579[PMID]_24093767[PMID] - - potassium voltage-gated channel subfamily E regulatory subunit 1 - KCNE1 - - ISK - JLNS2 - LQT5 - minK - Long QT syndrome 5 - Jervell and Lange-Nielsen syndrome 2 - IsK - - - gene with protein product - - - - Reactome - P15382 - - - SwissProt - P15382 - - - Ensembl - ENSG00000180509 - - - Genatlas - KCNE1 - - - HGNC - 6240 - - - OMIM - 176261 - - - ClinVar - KCNE1 - - - - - 21q22.12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301579[PMID]_24093767[PMID] - - potassium voltage-gated channel subfamily Q member 1 - KCNQ1 - - JLNS1 - Jervell and Lange-Nielsen syndrome 1 - KCNA8 - KVLQT1 - Kv7.1 - LQT1 - - - gene with protein product - - - - Ensembl - ENSG00000053918 - - - Genatlas - KCNQ1 - - - HGNC - 6294 - - - IUPHAR - 560 - - - OMIM - 607542 - - - Reactome - P51787 - - - SwissProt - P51787 - - - ClinVar - KCNQ1 - - - - - 11p15.5-p15.4 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 90650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650 - Otopalatodigital syndrome type 1 - - Malformation syndrome - - - Disorder - - - - 20301567[PMID] - - filamin A - FLNA - - ABP-280 - actin binding protein 280 - alpha filamin - - - gene with protein product - - - - Ensembl - ENSG00000196924 - - - Genatlas - FLNA - - - HGNC - 3754 - - - OMIM - 300017 - - - Reactome - P21333 - - - SwissProt - P21333 - - - ClinVar - FLNA - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 90641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90641 - Rare mitochondrial non-syndromic sensorineural deafness - - Etiological subtype - - - Subtype of disorder - - - - 19930154[PMID] - - POU class 3 homeobox 4 - POU3F4 - - BRN4 - DFNX2 - OTF9 - brain-4 - Octamer-binding transcription factor 9 - - - gene with protein product - - - - ClinVar - POU3F4 - - - Ensembl - ENSG00000196767 - - - Genatlas - POU3F4 - - - HGNC - 9217 - - - OMIM - 300039 - - - SwissProt - P49335 - - - - - Xq21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17723226[PMID] - - mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 - MT-ND4 - - NAD4 - NADH-ubiquinone oxidoreductase chain 4 - ND4 - complex I ND4 subunit - - - gene with protein product - - - - ClinVar - MT-ND4 - - - Ensembl - ENSG00000198886 - - - Genatlas - MT-ND4 - - - HGNC - 7459 - - - OMIM - 516003 - - - Reactome - P03905 - - - SwissProt - P03905 - - - - - mitochondria - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 23510774[PMID] - - transcription factor B1, mitochondrial - TFB1M - - CGI-75 - dimethyladenosine transferase 1, mitochondrial - mtTFB - - - gene with protein product - - - - ClinVar - TFB1M - - - Ensembl - ENSG00000029639 - - - Genatlas - TFB1M - - - HGNC - 17037 - - - OMIM - 607033 - - - Reactome - Q8WVM0 - - - SwissProt - Q8WVM0 - - - - - 6q25.3 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 23510774[PMID] - - tRNA mitochondrial 2-thiouridylase - TRMU - - FLJ10140 - MTO2 - MTU1 - mitochondrial tRNA-specific 2-thiouridylase 1 - - - gene with protein product - - - - ClinVar - TRMU - - - Ensembl - ENSG00000100416 - - - Genatlas - TRMU - - - HGNC - 25481 - - - OMIM - 610230 - - - Reactome - O75648 - - - SwissProt - O75648 - - - - - 22q13.31 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 20301607[PMID] - - mitochondrially encoded cytochrome c oxidase I - MT-CO1 - - COI - COX1 - - - gene with protein product - - - - ClinVar - MT-CO1 - - - Ensembl - ENSG00000198804 - - - Genatlas - MT-CO1 - - - HGNC - 7419 - - - OMIM - 516030 - - - Reactome - P00395 - - - SwissProt - P00395 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - mitochondrially encoded 12S rRNA - MT-RNR1 - - 12S - mitochondrial open-reading-frame of the twelve S rRNA type-c - mitochondrially encoded 12S ribosomal RNA - MOTS-c - - - Non-coding RNA - - - - SwissProt - A0A0C5B5G6 - - - Ensembl - ENSG00000211459 - - - Genatlas - MT-RNR1 - - - HGNC - 7470 - - - OMIM - 561000 - - - ClinVar - MT-RNR1 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21931169[PMID] - - mitochondrially encoded tRNA-His (CAU/C) - MT-TH - - trnH - - - Non-coding RNA - - - - ClinVar - TRNH - - - Ensembl - ENSG00000210176 - - - Genatlas - TRNH - - - HGNC - 7487 - - - OMIM - 590040 - - - SwissProt - - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301607[PMID]_24148127[PMID] - - mitochondrially encoded tRNA-Ser (UCN) 1 - MT-TS1 - - TRNS1 - - - Non-coding RNA - - - - Ensembl - ENSG00000210151 - - - Genatlas - MT-TS1 - - - HGNC - 7497 - - - OMIM - 590080 - - - ClinVar - MT-TS1 - - - SwissProt - - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 91387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91387 - Familial thoracic aortic aneurysm and aortic dissection - - Disease - - - Disorder - - - - 26854927[PMID] - - forkhead box E3 - FOXE3 - - FREAC8 - - - gene with protein product - - - - Ensembl - ENSG00000186790 - - - Genatlas - FOXE3 - - - HGNC - 3808 - - - OMIM - 601094 - - - SwissProt - Q13461 - - - ClinVar - FOXE3 - - - - - 1p33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32855533[PMID] - - thrombospondin type 1 domain containing 4 - THSD4 - - FLJ13710 - ADAMTSL6 - PRO34005 - FVSY9334 - - - gene with protein product - - - - HGNC - 25835 - - - Ensembl - ENSG00000187720 - - - OMIM - 614476 - - - SwissProt - Q6ZMP0 - - - - - 15q23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29967133[PMID] - - SMAD family member 2 - SMAD2 - - MADR2 - JV18-1 - - - gene with protein product - - - - OMIM - 601366 - - - Ensembl - ENSG00000175387 - - - SwissProt - Q15796 - - - Genatlas - SMAD2 - - - Reactome - Q15796 - - - HGNC - 6768 - - - ClinVar - SMAD2 - - - - - 18q21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 26838787[PMID]_27432961[PMID] - - lysyl oxidase - LOX - - protein-lysine 6-oxidase - - - gene with protein product - - - - OMIM - 153455 - - - Genatlas - LOX - - - SwissProt - P28300 - - - Reactome - P28300 - - - Ensembl - ENSG00000113083 - - - ClinVar - LOX - - - IUPHAR - 3097 - - - HGNC - 6664 - - - - - 5q23.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25557781[PMID] - - methionine adenosyltransferase 2A - MAT2A - - MATA2 - MATII - SAMS2 - S-adenosylmethionine synthase isoform type-2 - MAT-II - - - gene with protein product - - - - Ensembl - ENSG00000168906 - - - HGNC - 6904 - - - SwissProt - P31153 - - - OMIM - 601468 - - - Reactome - P31153 - - - Genatlas - MAT2A - - - ClinVar - MAT2A - - - - - 2p11.2 - 1 - - - - - Candidate gene tested in - - - Assessed - - - - 24932728[PMID] - - elastin - ELN - - SVAS - WBS - WS - Williams-Beuren syndrome - supravalvular aortic stenosis - tropoelastin - - - gene with protein product - - - - ClinVar - ELN - - - Ensembl - ENSG00000049540 - - - Genatlas - ELN - - - HGNC - 3327 - - - OMIM - 130160 - - - Reactome - P15502 - - - SwissProt - P15502 - - - - - 7q11.23 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 32820247[PMID] - - hes related family bHLH transcription factor with YRPW motif 2 - HEY2 - - bHLHb32 - HESR2 - HERP1 - - - gene with protein product - - - - HGNC - 4881 - - - Reactome - Q9UBP5 - - - Ensembl - ENSG00000135547 - - - ClinVar - HEY2 - - - Genatlas - HEY2 - - - SwissProt - Q9UBP5 - - - OMIM - 604674 - - - - - 6q22.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22440127[PMID] - - EGF containing fibulin extracellular matrix protein 2 - EFEMP2 - - FBLN4 - UPH1 - fibulin 4 - - - gene with protein product - - - - Ensembl - ENSG00000172638 - - - Genatlas - EFEMP2 - - - HGNC - 3219 - - - OMIM - 604633 - - - Reactome - O95967 - - - SwissProt - O95967 - - - ClinVar - EFEMP2 - - - - - 11q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23824657[PMID]_25835445[PMID] - - transforming growth factor beta 3 - TGFB3 - - prepro-transforming growth factor beta-3 - - - gene with protein product - - - - ClinVar - TGFB3 - - - SwissProt - P10600 - - - Ensembl - ENSG00000119699 - - - Genatlas - TGFB3 - - - HGNC - 11769 - - - OMIM - 190230 - - - Reactome - P10600 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301299[PMID] - - transforming growth factor beta receptor 1 - TGFBR1 - - ALK5 - TBRI - TBR-i - ACVRLK4 - ALK-5 - activin A receptor type II-like kinase, 53kDa - - - gene with protein product - - - - ClinVar - TGFBR1 - - - Ensembl - ENSG00000106799 - - - Genatlas - TGFBR1 - - - HGNC - 11772 - - - IUPHAR - 1788 - - - OMIM - 190181 - - - Reactome - P36897 - - - SwissProt - P36897 - - - - - 9q22.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301299[PMID] - - transforming growth factor beta receptor 2 - TGFBR2 - - TBRII - TBR-ii - - - gene with protein product - - - - ClinVar - TGFBR2 - - - Ensembl - ENSG00000163513 - - - Genatlas - TGFBR2 - - - HGNC - 11773 - - - IUPHAR - 1795 - - - OMIM - 190182 - - - Reactome - P37173 - - - SwissProt - P37173 - - - - - 3p24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301299[PMID] - - fibrillin 1 - FBN1 - - MASS - Marfan syndrome - OCTD - SGS - asprosin - - - gene with protein product - - - - ClinVar - FBN1 - - - Ensembl - ENSG00000166147 - - - Genatlas - FBN1 - - - HGNC - 3603 - - - OMIM - 134797 - - - Reactome - P35555 - - - SwissProt - P35555 - - - - - 15q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301299[PMID] - - actin alpha 2, smooth muscle - ACTA2 - - ACTSA - - - gene with protein product - - - - ClinVar - ACTA2 - - - Ensembl - ENSG00000107796 - - - Genatlas - ACTA2 - - - HGNC - 130 - - - OMIM - 102620 - - - Reactome - P62736 - - - SwissProt - P62736 - - - - - 10q23.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301299[PMID] - - myosin light chain kinase - MYLK - - KRP - MLCK108 - MLCK210 - MLCK - MLCK1 - MYLK1 - smMLCK - smooth muscle myosin light chain kinase - kinase related protein - Telokin - MYLK-L - - - gene with protein product - - - - Ensembl - ENSG00000065534 - - - Genatlas - MYLK - - - HGNC - 7590 - - - IUPHAR - 1552 - - - OMIM - 600922 - - - Reactome - Q15746 - - - SwissProt - Q15746 - - - ClinVar - MYLK - - - - - 3q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301299[PMID] - - SMAD family member 3 - SMAD3 - - HsT17436 - JV15-2 - - - gene with protein product - - - - Ensembl - ENSG00000166949 - - - Genatlas - SMAD3 - - - HGNC - 6769 - - - OMIM - 603109 - - - Reactome - P84022 - - - SwissProt - P84022 - - - ClinVar - SMAD3 - - - - - 15q22.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23910461[PMID] - - protein kinase cGMP-dependent 1 - PRKG1 - - PKG1 - PGK - PKG - - - gene with protein product - - - - ClinVar - PRKG1 - - - Ensembl - ENSG00000185532 - - - Genatlas - PRKG1 - - - HGNC - 9414 - - - IUPHAR - 1492 - - - OMIM - 176894 - - - Reactome - Q13976 - - - SwissProt - Q13976 - - - - - 10q11.23-q21.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 25434006[PMID] - - microfibril associated protein 5 - MFAP5 - - microfibril-associated glycoprotein-2 - MAGP2 - MP25 - - - gene with protein product - - - - ClinVar - MFAP5 - - - Ensembl - ENSG00000197614 - - - Genatlas - MFAP5 - - - HGNC - 29673 - - - OMIM - 601103 - - - Reactome - Q13361 - - - SwissProt - Q13361 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22772371[PMID] - - transforming growth factor beta 2 - TGFB2 - - prepro-transforming growth factor beta-2 - - - gene with protein product - - - - ClinVar - TGFB2 - - - Ensembl - ENSG00000092969 - - - Genatlas - TGFB2 - - - HGNC - 11768 - - - OMIM - 190220 - - - Reactome - P61812 - - - SwissProt - P61812 - - - - - 1q41 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30809044[PMID] - - SMAD family member 4 - SMAD4 - - DPC4 - - - gene with protein product - - - - ClinVar - SMAD4 - - - Ensembl - ENSG00000141646 - - - Genatlas - SMAD4 - - - HGNC - 6770 - - - OMIM - 600993 - - - Reactome - Q13485 - - - SwissProt - Q13485 - - - - - 18q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301299[PMID] - - myosin heavy chain 11 - MYH11 - - SMHC - SMMHC - SMMS-1 - - - gene with protein product - - - - ClinVar - MYH11 - - - Ensembl - ENSG00000133392 - - - Genatlas - MYH11 - - - HGNC - 7569 - - - OMIM - 160745 - - - Reactome - P35749 - - - SwissProt - P35749 - - - - - 16p13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 91411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91411 - Congenital ptosis - - Disease - - - Disorder - - - - 26486031[PMID]_25500261[PMID] - - collagen type XXV alpha 1 chain - COL25A1 - - - - gene with protein product - - - - ClinVar - COL25A1 - - - Genatlas - COL25A1 - - - HGNC - 18603 - - - OMIM - 610004 - - - Reactome - Q9BXS0 - - - SwissProt - Q9BXS0 - - - Ensembl - ENSG00000188517 - - - - - 4q25 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11935336[PMID]_17987257[PMID] - - zinc finger homeobox 4 - ZFHX4 - - FLJ20980 - ZFH4 - - - gene with protein product - - - - HGNC - 30939 - - - Ensembl - ENSG00000091656 - - - SwissProt - Q86UP3 - - - Genatlas - ZFHX4 - - - OMIM - 606940 - - - ClinVar - ZFHX4 - - - - - 8q21.13 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 91496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91496 - Snowflake vitreoretinal degeneration - - Disease - - - Disorder - - - - 18179896[PMID] - - potassium inwardly rectifying channel subfamily J member 13 - KCNJ13 - - Kir1.4 - Kir7.1 - LCA16 - - - gene with protein product - - - - Ensembl - ENSG00000115474 - - - Genatlas - KCNJ13 - - - HGNC - 6259 - - - IUPHAR - 443 - - - OMIM - 603208 - - - SwissProt - O60928 - - - ClinVar - KCNJ13 - - - - - 2q37.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 91495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91495 - Persistent hyperplastic primary vitreous - - Disease - - - Disorder - - - - 19172507[PMID]_20092598[PMID]_20301506[PMID] - - frizzled class receptor 4 - FZD4 - - CD344 - - - gene with protein product - - - - ClinVar - FZD4 - - - Ensembl - ENSG00000174804 - - - Genatlas - FZD4 - - - HGNC - 4042 - - - IUPHAR - 232 - - - OMIM - 604579 - - - Reactome - Q9ULV1 - - - SwissProt - Q9ULV1 - - - - - 11q14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301506[PMID] - - norrin cystine knot growth factor NDP - NDP - - norrin - - - gene with protein product - - - - Reactome - Q00604 - - - ClinVar - NDP - - - Ensembl - ENSG00000124479 - - - Genatlas - NDP - - - HGNC - 7678 - - - OMIM - 300658 - - - SwissProt - Q00604 - - - - - Xp11.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22645276[PMID] - - atonal bHLH transcription factor 7 - ATOH7 - - Math5 - bHLHa13 - - - gene with protein product - - - - ClinVar - ATOH7 - - - Ensembl - ENSG00000179774 - - - Genatlas - ATOH7 - - - HGNC - 13907 - - - OMIM - 609875 - - - SwissProt - Q8N100 - - - - - 10q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 91481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91481 - Ring dermoid of cornea - - Disease - - - Disorder - - - - 15591271[PMID] - - paired like homeodomain 2 - PITX2 - - ARP1 - Brx1 - IGDS - Otlx2 - RS - - - gene with protein product - - - - Ensembl - ENSG00000164093 - - - Genatlas - PITX2 - - - HGNC - 9005 - - - OMIM - 601542 - - - SwissProt - Q99697 - - - ClinVar - PITX2 - - - Reactome - Q99697 - - - - - 4q25 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 91414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91414 - Pilomatrixoma - - Disease - - - Disorder - - - - 10192393[PMID] - - catenin beta 1 - CTNNB1 - - armadillo - beta-catenin - - - gene with protein product - - - - ClinVar - CTNNB1 - - - Ensembl - ENSG00000168036 - - - Genatlas - CTNNB1 - - - HGNC - 2514 - - - OMIM - 116806 - - - Reactome - P35222 - - - SwissProt - P35222 - - - - - 3p22.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 91490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91490 - Isolated congenital sclerocornea - - Morphological anomaly - - - Disorder - - - - 28455998[PMID] - - gap junction protein alpha 8 - GJA8 - - CX50 - connexin 50 - - - gene with protein product - - - - ClinVar - GJA8 - - - Ensembl - ENSG00000121634 - - - Genatlas - GJA8 - - - HGNC - 4281 - - - OMIM - 600897 - - - Reactome - P48165 - - - SwissProt - P48165 - - - IUPHAR - 732 - - - - - 1q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 91489 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91489 - Isolated congenital megalocornea - - Morphological anomaly - - - Disorder - - - - 22284829[PMID] - - chordin like 1 - CHRDL1 - - CHL - NRLN1 - - - gene with protein product - - - - HGNC - 29861 - - - OMIM - 300350 - - - Reactome - Q9BU40 - - - SwissProt - Q9BU40 - - - Ensembl - ENSG00000101938 - - - Genatlas - CHRDL1 - - - ClinVar - CHRDL1 - - - - - Xq23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 91483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91483 - Rieger anomaly - - Morphological anomaly - - - Disorder - - - - 19513095[PMID]_24433355[PMID] - - paired like homeodomain 2 - PITX2 - - ARP1 - Brx1 - IGDS - Otlx2 - RS - - - gene with protein product - - - - Ensembl - ENSG00000164093 - - - Genatlas - PITX2 - - - HGNC - 9005 - - - OMIM - 601542 - - - SwissProt - Q99697 - - - ClinVar - PITX2 - - - Reactome - Q99697 - - - - - 4q25 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 9620769[PMID]_11170889[PMID] - - forkhead box C1 - FOXC1 - - ARA - FREAC3 - IGDA - IHG1 - - - gene with protein product - - - - OMIM - 601090 - - - SwissProt - Q12948 - - - Ensembl - ENSG00000054598 - - - Genatlas - FOXC1 - - - HGNC - 3800 - - - ClinVar - FOXC1 - - - Reactome - Q12948 - - - - - 6p25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 91130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91130 - Cardiomyopathy-hypotonia-lactic acidosis syndrome - - Disease - - - Disorder - - - - 17273968[PMID] - - solute carrier family 25 member 3 - SLC25A3 - - PTP - Phosphate carrier protein, mitochondrial - PiC - phosphate transport protein - - - gene with protein product - - - - ClinVar - SLC25A3 - - - Reactome - Q00325 - - - IUPHAR - 1061 - - - Ensembl - ENSG00000075415 - - - Genatlas - SLC25A3 - - - HGNC - 10989 - - - OMIM - 600370 - - - SwissProt - Q00325 - - - - - 12q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 91131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91131 - DK1-CDG - - Disease - - - Disorder - - - - 20301507[PMID] - - dolichol kinase - DOLK - - DK1 - KIAA1094 - dolichol kinase 1 - - - gene with protein product - - - - ClinVar - DOLK - - - Ensembl - ENSG00000175283 - - - Genatlas - DOLK - - - HGNC - 23406 - - - OMIM - 610746 - - - Reactome - Q9UPQ8 - - - SwissProt - Q9UPQ8 - - - - - 9q34.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 91132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91132 - Ichthyosis-hypotrichosis syndrome - - Disease - - - Disorder - - - - 17273967[PMID] - - ST14 transmembrane serine protease matriptase - ST14 - - HAI - MT-SP1 - SNC19 - TMPRSS14 - epithin - matriptase - CAP3 - channel–activating protein 3 - channel–activating protein 3 - - - gene with protein product - - - - Reactome - Q9Y5Y6 - - - ClinVar - ST14 - - - Ensembl - ENSG00000149418 - - - Genatlas - ST14 - - - HGNC - 11344 - - - IUPHAR - 2418 - - - OMIM - 606797 - - - SwissProt - Q9Y5Y6 - - - - - 11q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90793 - Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency - - Disease - - - Disorder - - - - - - cytochrome P450 family 17 subfamily A member 1 - CYP17A1 - - CPT7 - P450C17 - S17AH - Steroid 17-alpha-monooxygenase - - - gene with protein product - - - - ClinVar - CYP17A1 - - - Ensembl - ENSG00000148795 - - - Genatlas - CYP17A1 - - - HGNC - 2593 - - - IUPHAR - 1361 - - - OMIM - 609300 - - - Reactome - P05093 - - - SwissProt - P05093 - - - - - 10q24.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90795 - Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency - - Disease - - - Disorder - - - - - - cytochrome P450 family 11 subfamily B member 1 - CYP11B1 - - steroid 11-beta-monooxygenase - CPN1 - FHI - P450C11 - - - gene with protein product - - - - ClinVar - CYP11B1 - - - IUPHAR - 1359 - - - OMIM - 610613 - - - Reactome - P15538 - - - SwissProt - P15538 - - - Ensembl - ENSG00000160882 - - - Genatlas - CYP11B1 - - - HGNC - 2591 - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90796 - 46,XY difference of sex development due to isolated 17,20-lyase deficiency - - Disease - - - Disorder - - - - 20080843[PMID] - - cytochrome b5 type A - CYB5A - - MCB5 - Microsomal cytochrome b5 - - - gene with protein product - - - - Ensembl - ENSG00000166347 - - - Genatlas - CYB5A - - - HGNC - 2570 - - - OMIM - 613218 - - - Reactome - P00167 - - - SwissProt - P00167 - - - ClinVar - CYB5A - - - - - 18q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12466376[PMID] - - cytochrome P450 family 17 subfamily A member 1 - CYP17A1 - - CPT7 - P450C17 - S17AH - Steroid 17-alpha-monooxygenase - - - gene with protein product - - - - ClinVar - CYP17A1 - - - Ensembl - ENSG00000148795 - - - Genatlas - CYP17A1 - - - HGNC - 2593 - - - IUPHAR - 1361 - - - OMIM - 609300 - - - Reactome - P05093 - - - SwissProt - P05093 - - - - - 10q24.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 90797 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90797 - Partial androgen insensitivity syndrome - - Disease - - - Disorder - - - - 20301602[PMID] - - androgen receptor - AR - - AIS - HUMARA - Kennedy disease - NR3C4 - SMAX1 - testicular feminization - - - gene with protein product - - - - Ensembl - ENSG00000169083 - - - Genatlas - AR - - - HGNC - 644 - - - IUPHAR - 628 - - - OMIM - 313700 - - - Reactome - P10275 - - - SwissProt - P10275 - - - ClinVar - AR - - - - - Xq12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 91347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91347 - TSH-secreting pituitary adenoma - - Disease - - - Disorder - - - - 28413019[PMID] - - cadherin related 23 - CDH23 - - CDHR23 - cadherin-related family member 23 - - - gene with protein product - - - - Ensembl - ENSG00000107736 - - - Genatlas - CDH23 - - - HGNC - 13733 - - - OMIM - 605516 - - - SwissProt - Q9H251 - - - ClinVar - CDH23 - - - - - 10q22.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 91352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91352 - Germinoma of the central nervous system - - Clinical subtype - - - Subtype of disorder - - - - 24896186[PMID] - - jumonji domain containing 1C - JMJD1C - - KDM3C - DKFZp761F0118 - FLJ14374 - KIAA1380 - - - gene with protein product - - - - Ensembl - ENSG00000171988 - - - Genatlas - JMJD1C - - - HGNC - 12313 - - - OMIM - 604503 - - - Reactome - Q15652 - - - SwissProt - Q15652 - - - IUPHAR - 2663 - - - ClinVar - JMJD1C - - - - - 10q21.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 91135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91135 - Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency - - Disease - - - Disorder - - - - 17110937[PMID] - - gamma-glutamyl carboxylase - GGCX - - VKCFD1 - vitamin K-dependent gamma-carboxylase - peptidyl-glutamate 4-carboxylase - - - gene with protein product - - - - ClinVar - GGCX - - - Ensembl - ENSG00000115486 - - - Genatlas - GGCX - - - HGNC - 4247 - - - IUPHAR - 1268 - - - OMIM - 137167 - - - Reactome - P38435 - - - SwissProt - P38435 - - - - - 2p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79396 - Autosomal dominant generalized epidermolysis bullosa simplex, severe form - - Disease - - - Disorder - - - - 20301543[PMID] - - keratin 14 - KRT14 - - epidermolysis bullosa simplex, Dowling-Meara, Koebner - - - gene with protein product - - - - ClinVar - KRT14 - - - Genatlas - KRT14 - - - HGNC - 6416 - - - OMIM - 148066 - - - Reactome - P02533 - - - SwissProt - P02533 - - - Ensembl - ENSG00000186847 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301543[PMID] - - keratin 5 - KRT5 - - KRT5A - CK-5 - - - gene with protein product - - - - ClinVar - KRT5 - - - Ensembl - ENSG00000186081 - - - Genatlas - KRT5 - - - HGNC - 6442 - - - OMIM - 148040 - - - Reactome - P13647 - - - SwissProt - P13647 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79397 - Epidermolysis bullosa simplex with mottled pigmentation - - Disease - - - Disorder - - - - 16601668[PMID]_20301543[PMID] - - keratin 14 - KRT14 - - epidermolysis bullosa simplex, Dowling-Meara, Koebner - - - gene with protein product - - - - ClinVar - KRT14 - - - Genatlas - KRT14 - - - HGNC - 6416 - - - OMIM - 148066 - - - Reactome - P02533 - - - SwissProt - P02533 - - - Ensembl - ENSG00000186847 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301543[PMID] - - keratin 5 - KRT5 - - KRT5A - CK-5 - - - gene with protein product - - - - ClinVar - KRT5 - - - Ensembl - ENSG00000186081 - - - Genatlas - KRT5 - - - HGNC - 6442 - - - OMIM - 148040 - - - Reactome - P13647 - - - SwissProt - P13647 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79394 - Congenital ichthyosiform erythroderma - - Disease - - - Disorder - - - - 18284401[PMID]_19262603[PMID]_22257947[PMID] - - ATP binding cassette subfamily A member 12 - ABCA12 - - DKFZP434G232 - LI2 - - - gene with protein product - - - - HGNC - 14637 - - - IUPHAR - 766 - - - OMIM - 607800 - - - Reactome - Q86UK0 - - - SwissProt - Q86UK0 - - - Ensembl - ENSG00000144452 - - - Genatlas - ABCA12 - - - ClinVar - ABCA12 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16792775[PMID]_18347291[PMID]_12780701[PMID]_20301593[PMID] - - arachidonate 12-lipoxygenase, 12R type - ALOX12B - - 12R-LOX - 12R-lipoxygenase - - - gene with protein product - - - - ClinVar - ALOX12B - - - Ensembl - ENSG00000179477 - - - Genatlas - ALOX12B - - - HGNC - 430 - - - OMIM - 603741 - - - Reactome - O75342 - - - SwissProt - O75342 - - - IUPHAR - 1386 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12780701[PMID] - - arachidonate epidermal lipoxygenase 3 - ALOXE3 - - E-LOX - eLOX3 - Epidermal lipoxygenase-3 - hydroperoxy icosatetraenoate isomerase - hydroperoxy icosatetraenoate dehydratase - hydroperoxide isomerase - - - gene with protein product - - - - Reactome - Q9BYJ1 - - - Ensembl - ENSG00000179148 - - - Genatlas - ALOXE3 - - - HGNC - 13743 - - - OMIM - 607206 - - - SwissProt - Q9BYJ1 - - - IUPHAR - 1390 - - - ClinVar - ALOXE3 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12780701[PMID] - - transglutaminase 1 - TGM1 - - K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase - LI - LI1 - TGASE - TGK - - - gene with protein product - - - - ClinVar - TGM1 - - - Reactome - P22735 - - - Ensembl - ENSG00000092295 - - - Genatlas - TGM1 - - - HGNC - 11777 - - - OMIM - 190195 - - - SwissProt - P22735 - - - - - 14q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20016120[PMID] - - NIPA like domain containing 4 - NIPAL4 - - ICHYN - ichthyin - SLC57A6 - NIPA4 - - - gene with protein product - - - - ClinVar - NIPAL4 - - - Ensembl - ENSG00000172548 - - - Genatlas - NIPAL4 - - - HGNC - 28018 - - - OMIM - 609383 - - - Reactome - Q0D2K0 - - - SwissProt - Q0D2K0 - - - IUPHAR - 3038 - - - - - 5q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22246504[PMID] - - patatin like domain 1, omega-hydroxyceramide transacylase - PNPLA1 - - FLJ38755 - dJ50J22.1 - - - gene with protein product - - - - HGNC - 21246 - - - OMIM - 612121 - - - SwissProt - Q8N8W4 - - - Ensembl - ENSG00000180316 - - - Genatlas - PNPLA1 - - - ClinVar - PNPLA1 - - - - - 6p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23549421[PMID] - - ceramide synthase 3 - CERS3 - - MGC27091 - - - gene with protein product - - - - HGNC - 23752 - - - OMIM - 615276 - - - Reactome - Q8IU89 - - - SwissProt - Q8IU89 - - - ClinVar - CERS3 - - - Ensembl - ENSG00000154227 - - - Genatlas - CERS3 - - - IUPHAR - 2476 - - - - - 15q26.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28575648[PMID] - - sulfotransferase family 2B member 1 - SULT2B1 - - HSST2 - - - gene with protein product - - - - ClinVar - SULT2B1 - - - HGNC - 11459 - - - Ensembl - ENSG00000088002 - - - SwissProt - O00204 - - - OMIM - 604125 - - - Genatlas - SULT2B1 - - - Reactome - O00204 - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28906551[PMID] - - short chain dehydrogenase/reductase family 9C member 7 - SDR9C7 - - RDHS - SDR-O - - - gene with protein product - - - - OMIM - 609769 - - - Genatlas - SDR9C7 - - - Reactome - Q8NEX9 - - - ClinVar - SDR9C7 - - - HGNC - 29958 - - - Ensembl - ENSG00000170426 - - - SwissProt - Q8NEX9 - - - - - 12q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79395 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79395 - Keratoderma hereditarium mutilans with ichthyosis - - Disease - - - Disorder - - - - 17953701[PMID]_12072018[PMID] - - loricrin cornified envelope precursor protein - LORICRIN - - - - gene with protein product - - - - Reactome - P23490 - - - ClinVar - LOR - - - Ensembl - ENSG00000203782 - - - Genatlas - LOR - - - HGNC - 6663 - - - OMIM - 152445 - - - SwissProt - P23490 - - - - - 1q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79414 - Woolly hair nevus - - Disease - - - Disorder - - - - 24129065[PMID] - - HRas proto-oncogene, GTPase - HRAS - - - - gene with protein product - - - - HGNC - 5173 - - - OMIM - 190020 - - - Reactome - P01112 - - - SwissProt - P01112 - - - Ensembl - ENSG00000174775 - - - Genatlas - HRAS - - - ClinVar - HRAS - - - IUPHAR - 2822 - - - - - 11p15.5 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 79399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79399 - Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form - - Disease - - - Disorder - - - - 20301543[PMID] - - keratin 14 - KRT14 - - epidermolysis bullosa simplex, Dowling-Meara, Koebner - - - gene with protein product - - - - ClinVar - KRT14 - - - Genatlas - KRT14 - - - HGNC - 6416 - - - OMIM - 148066 - - - Reactome - P02533 - - - SwissProt - P02533 - - - Ensembl - ENSG00000186847 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301543[PMID] - - keratin 5 - KRT5 - - KRT5A - CK-5 - - - gene with protein product - - - - ClinVar - KRT5 - - - Ensembl - ENSG00000186081 - - - Genatlas - KRT5 - - - HGNC - 6442 - - - OMIM - 148040 - - - Reactome - P13647 - - - SwissProt - P13647 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79401 - PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement - - Disease - - - Disorder - - - - 11851880[PMID] - - plectin - PLEC - - PCN - PLTN - - - gene with protein product - - - - Ensembl - ENSG00000178209 - - - Genatlas - PLEC - - - HGNC - 9069 - - - OMIM - 601282 - - - Reactome - Q15149 - - - SwissProt - Q15149 - - - ClinVar - PLEC - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79400 - Localized epidermolysis bullosa simplex - - Disease - - - Disorder - - - - 20301543[PMID] - - keratin 14 - KRT14 - - epidermolysis bullosa simplex, Dowling-Meara, Koebner - - - gene with protein product - - - - ClinVar - KRT14 - - - Genatlas - KRT14 - - - HGNC - 6416 - - - OMIM - 148066 - - - Reactome - P02533 - - - SwissProt - P02533 - - - Ensembl - ENSG00000186847 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301543[PMID] - - keratin 5 - KRT5 - - KRT5A - CK-5 - - - gene with protein product - - - - ClinVar - KRT5 - - - Ensembl - ENSG00000186081 - - - Genatlas - KRT5 - - - HGNC - 6442 - - - OMIM - 148040 - - - Reactome - P13647 - - - SwissProt - P13647 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79403 - Junctional epidermolysis bullosa with pyloric atresia - - Disease - - - Disorder - - - - 9185503[PMID]_20301336[PMID] - - integrin subunit alpha 6 - ITGA6 - - CD49f - ITGA6A - very late activation protein 6 - ITGA6B - VLA-6 - - - gene with protein product - - - - ClinVar - ITGA6 - - - Ensembl - ENSG00000091409 - - - Genatlas - ITGA6 - - - HGNC - 6142 - - - OMIM - 147556 - - - Reactome - P23229 - - - SwissProt - P23229 - - - IUPHAR - 2445 - - - - - 2q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11328943[PMID]_20301336[PMID] - - integrin subunit beta 4 - ITGB4 - - CD104 - - - gene with protein product - - - - ClinVar - ITGB4 - - - Ensembl - ENSG00000132470 - - - Genatlas - ITGB4 - - - HGNC - 6158 - - - OMIM - 147557 - - - Reactome - P16144 - - - SwissProt - P16144 - - - IUPHAR - 2458 - - - - - 17q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79402 - Intermediate generalized junctional epidermolysis bullosa - - Disease - - - Disorder - - - - 20301304[PMID] - - collagen type XVII alpha 1 chain - COL17A1 - - BP180 - - - gene with protein product - - - - ClinVar - COL17A1 - - - Ensembl - ENSG00000065618 - - - Genatlas - COL17A1 - - - HGNC - 2194 - - - OMIM - 113811 - - - Reactome - Q9UMD9 - - - SwissProt - Q9UMD9 - - - - - 10q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 10792571[PMID]_16473856[PMID]_20301304[PMID] - - integrin subunit beta 4 - ITGB4 - - CD104 - - - gene with protein product - - - - ClinVar - ITGB4 - - - Ensembl - ENSG00000132470 - - - Genatlas - ITGB4 - - - HGNC - 6158 - - - OMIM - 147557 - - - Reactome - P16144 - - - SwissProt - P16144 - - - IUPHAR - 2458 - - - - - 17q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301304[PMID] - - laminin subunit alpha 3 - LAMA3 - - kalinin-165kDa - nicein-150kDa - BM600-150kDa - epiligrin - - - gene with protein product - - - - ClinVar - LAMA3 - - - Ensembl - ENSG00000053747 - - - Genatlas - LAMA3 - - - HGNC - 6483 - - - OMIM - 600805 - - - Reactome - Q16787 - - - SwissProt - Q16787 - - - - - 18q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301304[PMID] - - laminin subunit beta 3 - LAMB3 - - BM600-125kDa - kalinin-140kDa - nicein-125kDa - - - gene with protein product - - - - ClinVar - LAMB3 - - - Ensembl - ENSG00000196878 - - - Genatlas - LAMB3 - - - HGNC - 6490 - - - OMIM - 150310 - - - Reactome - Q13751 - - - SwissProt - Q13751 - - - - - 1q32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301304[PMID] - - laminin subunit gamma 2 - LAMC2 - - BM600-100kDa - kalinin-105kDa - nicein-100kDa - - - gene with protein product - - - - ClinVar - LAMC2 - - - Ensembl - ENSG00000058085 - - - Genatlas - LAMC2 - - - HGNC - 6493 - - - OMIM - 150292 - - - Reactome - Q13753 - - - SwissProt - Q13753 - - - - - 1q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79404 - Severe generalized junctional epidermolysis bullosa - - Disease - - - Disorder - - - - 20301304[PMID] - - laminin subunit beta 3 - LAMB3 - - BM600-125kDa - kalinin-140kDa - nicein-125kDa - - - gene with protein product - - - - ClinVar - LAMB3 - - - Ensembl - ENSG00000196878 - - - Genatlas - LAMB3 - - - HGNC - 6490 - - - OMIM - 150310 - - - Reactome - Q13751 - - - SwissProt - Q13751 - - - - - 1q32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301304[PMID] - - laminin subunit gamma 2 - LAMC2 - - BM600-100kDa - kalinin-105kDa - nicein-100kDa - - - gene with protein product - - - - ClinVar - LAMC2 - - - Ensembl - ENSG00000058085 - - - Genatlas - LAMC2 - - - HGNC - 6493 - - - OMIM - 150292 - - - Reactome - Q13753 - - - SwissProt - Q13753 - - - - - 1q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301304[PMID] - - laminin subunit alpha 3 - LAMA3 - - kalinin-165kDa - nicein-150kDa - BM600-150kDa - epiligrin - - - gene with protein product - - - - ClinVar - LAMA3 - - - Ensembl - ENSG00000053747 - - - Genatlas - LAMA3 - - - HGNC - 6483 - - - OMIM - 600805 - - - Reactome - Q16787 - - - SwissProt - Q16787 - - - - - 18q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79406 - Late-onset junctional epidermolysis bullosa - - Disease - - - Disorder - - - - - - collagen type XVII alpha 1 chain - COL17A1 - - BP180 - - - gene with protein product - - - - ClinVar - COL17A1 - - - Ensembl - ENSG00000065618 - - - Genatlas - COL17A1 - - - HGNC - 2194 - - - OMIM - 113811 - - - Reactome - Q9UMD9 - - - SwissProt - Q9UMD9 - - - - - 10q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79409 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79409 - Recessive dystrophic epidermolysis bullosa inversa - - Disease - - - Disorder - - - - - - collagen type VII alpha 1 chain - COL7A1 - - LC collagen - collagen VII, alpha-1 polypeptide - - - gene with protein product - - - - ClinVar - COL7A1 - - - Ensembl - ENSG00000114270 - - - Genatlas - COL7A1 - - - HGNC - 2214 - - - OMIM - 120120 - - - Reactome - Q02388 - - - SwissProt - Q02388 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79408 - Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form - - Disease - - - Disorder - - - - - - collagen type VII alpha 1 chain - COL7A1 - - LC collagen - collagen VII, alpha-1 polypeptide - - - gene with protein product - - - - ClinVar - COL7A1 - - - Ensembl - ENSG00000114270 - - - Genatlas - COL7A1 - - - HGNC - 2214 - - - OMIM - 120120 - - - Reactome - Q02388 - - - SwissProt - Q02388 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - matrix metallopeptidase 1 - MMP1 - - interstitial collagenase - - - gene with protein product - - - - Ensembl - ENSG00000196611 - - - Genatlas - MMP1 - - - HGNC - 7155 - - - IUPHAR - 1628 - - - OMIM - 120353 - - - Reactome - P03956 - - - SwissProt - P03956 - - - ClinVar - MMP1 - - - - - 11q22.2 - 1 - - - - - Modifying germline mutation in - - - Not yet assessed - - - - - - 79411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79411 - Self-improving dystrophic epidermolysis bullosa - - Disease - - - Disorder - - - - - - collagen type VII alpha 1 chain - COL7A1 - - LC collagen - collagen VII, alpha-1 polypeptide - - - gene with protein product - - - - ClinVar - COL7A1 - - - Ensembl - ENSG00000114270 - - - Genatlas - COL7A1 - - - HGNC - 2214 - - - OMIM - 120120 - - - Reactome - Q02388 - - - SwissProt - Q02388 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79410 - Localized dystrophic epidermolysis bullosa, pretibial form - - Clinical subtype - - - Subtype of disorder - - - - - - collagen type VII alpha 1 chain - COL7A1 - - LC collagen - collagen VII, alpha-1 polypeptide - - - gene with protein product - - - - ClinVar - COL7A1 - - - Ensembl - ENSG00000114270 - - - Genatlas - COL7A1 - - - HGNC - 2214 - - - OMIM - 120120 - - - Reactome - Q02388 - - - SwissProt - Q02388 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79452 - Milroy disease - - Disease - - - Disorder - - - - 20301417[PMID] - - fms related receptor tyrosine kinase 4 - FLT4 - - PCL - VEGFR3 - VEGF receptor-3 - VEGFR-3 - primary congenital lymphedema - vascular endothelial growth factor receptor 3 - Feline McDonough Sarcoma (FMS)-like tyrosine kinase 4 - - - gene with protein product - - - - Ensembl - ENSG00000037280 - - - Genatlas - FLT4 - - - HGNC - 3767 - - - IUPHAR - 1814 - - - OMIM - 136352 - - - Reactome - P35916 - - - SwissProt - P35916 - - - ClinVar - FLT4 - - - - - 5q35.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79455 - Cutaneous mastocytoma - - Disease - - - Disorder - - - - 18795925[PMID]_19865100[PMID] - - KIT proto-oncogene, receptor tyrosine kinase - KIT - - C-Kit - CD117 - SCFR - mast/stem cell growth factor receptor Kit - - - gene with protein product - - - - ClinVar - KIT - - - Ensembl - ENSG00000157404 - - - Genatlas - KIT - - - HGNC - 6342 - - - IUPHAR - 1805 - - - OMIM - 164920 - - - Reactome - P10721 - - - SwissProt - P10721 - - - - - 4q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79435 - Oculocutaneous albinism type 4 - - Disease - - - Disorder - - - - - - solute carrier family 45 member 2 - SLC45A2 - - AIM-1 - OCA4 - antigen in melanoma 1 - oculocutaneous albinism type 4 - - - gene with protein product - - - - IUPHAR - 1210 - - - Ensembl - ENSG00000164175 - - - Genatlas - SLC45A2 - - - HGNC - 16472 - - - OMIM - 606202 - - - SwissProt - Q9UMX9 - - - Reactome - Q9UMX9 - - - ClinVar - SLC45A2 - - - - - 5p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79434 - Oculocutaneous albinism type 1B - - Clinical subtype - - - Subtype of disorder - - - - 20301345[PMID] - - tyrosinase - TYR - - OCA1 - OCA1A - OCAIA - oculocutaneous albinism IA - - - gene with protein product - - - - Ensembl - ENSG00000077498 - - - Genatlas - TYR - - - HGNC - 12442 - - - IUPHAR - 2643 - - - OMIM - 606933 - - - Reactome - P14679 - - - SwissProt - P14679 - - - ClinVar - TYR - - - - - 11q14.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79433 - Oculocutaneous albinism type 3 - - Disease - - - Disorder - - - - - - tyrosinase related protein 1 - TYRP1 - - CATB - GP75 - OCA3 - TRP - b-PROTEIN - - - gene with protein product - - - - Reactome - P17643 - - - ClinVar - TYRP1 - - - Ensembl - ENSG00000107165 - - - Genatlas - TYRP1 - - - HGNC - 12450 - - - OMIM - 115501 - - - SwissProt - P17643 - - - - - 9p23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79432 - Oculocutaneous albinism type 2 - - Disease - - - Disorder - - - - - - OCA2 melanosomal transmembrane protein - OCA2 - - BEY - BEY1 - BEY2 - EYCL - P-protein - melanocyte-specific transporter protein - SLC13B1 - - - gene with protein product - - - - Reactome - Q04671 - - - ClinVar - OCA2 - - - Ensembl - ENSG00000104044 - - - Genatlas - OCA2 - - - HGNC - 8101 - - - OMIM - 611409 - - - SwissProt - Q04671 - - - - - 15q12-q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12876664[PMID] - - melanocortin 1 receptor - MC1R - - MSH-R - alpha melanocyte stimulating hormone receptor - - - gene with protein product - - - - Ensembl - ENSG00000258839 - - - Genatlas - MC1R - - - HGNC - 6929 - - - IUPHAR - 282 - - - OMIM - 155555 - - - Reactome - Q01726 - - - SwissProt - Q01726 - - - ClinVar - MC1R - - - - - 16q24.3 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - - - 79431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79431 - Oculocutaneous albinism type 1A - - Clinical subtype - - - Subtype of disorder - - - - 20301345[PMID] - - tyrosinase - TYR - - OCA1 - OCA1A - OCAIA - oculocutaneous albinism IA - - - gene with protein product - - - - Ensembl - ENSG00000077498 - - - Genatlas - TYR - - - HGNC - 12442 - - - IUPHAR - 2643 - - - OMIM - 606933 - - - Reactome - P14679 - - - SwissProt - P14679 - - - ClinVar - TYR - - - - - 11q14.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445 - Pseudopseudohypoparathyroidism - - Disease - - - Disorder - - - - - - GNAS complex locus - GNAS - - G protein subunit alpha S - GNASXL - GPSA - NESP - NESP55 - SCG6 - SgVI - secretogranin VI - - - gene with protein product - - - - ClinVar - GNAS - - - SwissProt - P63092 - - - SwissProt - P84996 - - - SwissProt - Q5JWF2 - - - Ensembl - ENSG00000087460 - - - Genatlas - GNAS - - - HGNC - 4392 - - - OMIM - 139320 - - - Reactome - P63092 - - - SwissProt - O95467 - - - - - 20q13.32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79444 - Pseudohypoparathyroidism type 1C - - Disease - - - Disorder - - - - - - GNAS complex locus - GNAS - - G protein subunit alpha S - GNASXL - GPSA - NESP - NESP55 - SCG6 - SgVI - secretogranin VI - - - gene with protein product - - - - ClinVar - GNAS - - - SwissProt - P63092 - - - SwissProt - P84996 - - - SwissProt - Q5JWF2 - - - Ensembl - ENSG00000087460 - - - Genatlas - GNAS - - - HGNC - 4392 - - - OMIM - 139320 - - - Reactome - P63092 - - - SwissProt - O95467 - - - - - 20q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79443 - Pseudohypoparathyroidism type 1A - - Disease - - - Disorder - - - - - - GNAS complex locus - GNAS - - G protein subunit alpha S - GNASXL - GPSA - NESP - NESP55 - SCG6 - SgVI - secretogranin VI - - - gene with protein product - - - - ClinVar - GNAS - - - SwissProt - P63092 - - - SwissProt - P84996 - - - SwissProt - Q5JWF2 - - - Ensembl - ENSG00000087460 - - - Genatlas - GNAS - - - HGNC - 4392 - - - OMIM - 139320 - - - Reactome - P63092 - - - SwissProt - O95467 - - - - - 20q13.32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79483 - Phakomatosis cesioflammea - - Clinical subtype - - - Subtype of disorder - - - - 26778290[PMID] - - G protein subunit alpha q - GNAQ - - G-ALPHA-q - GAQ - - - gene with protein product - - - - IUPHAR - 2914 - - - Ensembl - ENSG00000156052 - - - Genatlas - GNAQ - - - HGNC - 4390 - - - OMIM - 600998 - - - Reactome - P50148 - - - SwissProt - P50148 - - - ClinVar - GNAQ - - - - - 9q21.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 26778290[PMID] - - G protein subunit alpha 11 - GNA11 - - FBH - FBH2 - FHH2 - - - gene with protein product - - - - Reactome - P29992 - - - SwissProt - P29992 - - - Ensembl - ENSG00000088256 - - - Genatlas - GNA11 - - - HGNC - 4379 - - - OMIM - 139313 - - - ClinVar - GNA11 - - - - - 19p13.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 79484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79484 - Phakomatosis cesiomarmorata - - Clinical subtype - - - Subtype of disorder - - - - 26778290[PMID] - - G protein subunit alpha 11 - GNA11 - - FBH - FBH2 - FHH2 - - - gene with protein product - - - - Reactome - P29992 - - - SwissProt - P29992 - - - Ensembl - ENSG00000088256 - - - Genatlas - GNA11 - - - HGNC - 4379 - - - OMIM - 139313 - - - ClinVar - GNA11 - - - - - 19p13.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 79478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79478 - Griscelli syndrome type 3 - - Clinical subtype - - - Subtype of disorder - - - - - - melanophilin - MLPH - - synaptotagmin-like protein homologue lacking C2 domains-a - SLAC2-A - Slac-2a - exophilin-3 - l(1)-3Rk - l1Rk3 - ln - - - gene with protein product - - - - ClinVar - MLPH - - - Ensembl - ENSG00000115648 - - - Genatlas - MLPH - - - HGNC - 29643 - - - OMIM - 606526 - - - SwissProt - Q9BV36 - - - - - 2q37.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12897212[PMID] - - myosin VA - MYO5A - - Unconventional myosin-Va - GS1 - MYO5 - MYR12 - myosin V - myosin heavy chain 12 - myosin, heavy polypeptide kinase - myoxin - - - gene with protein product - - - - OMIM - 160777 - - - Reactome - Q9Y4I1 - - - SwissProt - Q9Y4I1 - - - ClinVar - MYO5A - - - Ensembl - ENSG00000197535 - - - Genatlas - MYO5A - - - HGNC - 7602 - - - - - 15q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79474 - Atypical Werner syndrome - - Disease - - - Disorder - - - - 12927431[PMID]_19270485[PMID] - - lamin A/C - LMNA - - HGPS - MADA - mandibuloacral dysplasia type A - progerin - - - gene with protein product - - - - ClinVar - LMNA - - - Ensembl - ENSG00000160789 - - - Genatlas - LMNA - - - HGNC - 6636 - - - OMIM - 150330 - - - Reactome - P02545 - - - SwissProt - P02545 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79477 - Griscelli syndrome type 2 - - Clinical subtype - - - Subtype of disorder - - - - - - RAB27A, member RAS oncogene family - RAB27A - - GS2 - HsT18676 - RAB27 - RAM - - - gene with protein product - - - - ClinVar - RAB27A - - - IUPHAR - 2916 - - - Ensembl - ENSG00000069974 - - - Genatlas - RAB27A - - - HGNC - 9766 - - - OMIM - 603868 - - - Reactome - P51159 - - - SwissProt - P51159 - - - - - 15q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79476 - Griscelli syndrome type 1 - - Clinical subtype - - - Subtype of disorder - - - - - - myosin VA - MYO5A - - Unconventional myosin-Va - GS1 - MYO5 - MYR12 - myosin V - myosin heavy chain 12 - myosin, heavy polypeptide kinase - myoxin - - - gene with protein product - - - - OMIM - 160777 - - - Reactome - Q9Y4I1 - - - SwissProt - Q9Y4I1 - - - ClinVar - MYO5A - - - Ensembl - ENSG00000197535 - - - Genatlas - MYO5A - - - HGNC - 7602 - - - - - 15q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79473 - Variegate porphyria - - Disease - - - Disorder - - - - 23409300[PMID] - - protoporphyrinogen oxidase - PPOX - - PPO - - - gene with protein product - - - - ClinVar - PPOX - - - Ensembl - ENSG00000143224 - - - Genatlas - PPOX - - - HGNC - 9280 - - - OMIM - 600923 - - - Reactome - P50336 - - - SwissProt - P50336 - - - - - 1q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269 - Sanfilippo syndrome type A - - Etiological subtype - - - Subtype of disorder - - - - 15146460[PMID] - - N-sulfoglucosamine sulfohydrolase - SGSH - - HSS - MPS3A - SFMD - mucopolysaccharidosis type IIIA - sulfamidase - - - gene with protein product - - - - ClinVar - SGSH - - - Ensembl - ENSG00000181523 - - - Genatlas - SGSH - - - HGNC - 10818 - - - OMIM - 605270 - - - Reactome - P51688 - - - SwissProt - P51688 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79257 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79257 - GM1 gangliosidosis type 3 - - Clinical subtype - - - Subtype of disorder - - - - 24156116[PMID] - - galactosidase beta 1 - GLB1 - - EBP - elastin binding protein - - - gene with protein product - - - - Ensembl - ENSG00000170266 - - - Genatlas - GLB1 - - - HGNC - 4298 - - - OMIM - 611458 - - - Reactome - P16278 - - - SwissProt - P16278 - - - ClinVar - GLB1 - - - - - 3p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79256 - GM1 gangliosidosis type 2 - - Clinical subtype - - - Subtype of disorder - - - - 24156116[PMID] - - galactosidase beta 1 - GLB1 - - EBP - elastin binding protein - - - gene with protein product - - - - Ensembl - ENSG00000170266 - - - Genatlas - GLB1 - - - HGNC - 4298 - - - OMIM - 611458 - - - Reactome - P16278 - - - SwissProt - P16278 - - - ClinVar - GLB1 - - - - - 3p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79255 - GM1 gangliosidosis type 1 - - Clinical subtype - - - Subtype of disorder - - - - 24156116[PMID] - - galactosidase beta 1 - GLB1 - - EBP - elastin binding protein - - - gene with protein product - - - - Ensembl - ENSG00000170266 - - - Genatlas - GLB1 - - - HGNC - 4298 - - - OMIM - 611458 - - - Reactome - P16278 - - - SwissProt - P16278 - - - ClinVar - GLB1 - - - - - 3p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79254 - Classic phenylketonuria - - Clinical subtype - - - Subtype of disorder - - - - 20301677[PMID] - - phenylalanine hydroxylase - PAH - - PH - phenylalanine 4-monooxygenase - - - gene with protein product - - - - Ensembl - ENSG00000171759 - - - Genatlas - PAH - - - HGNC - 8582 - - - IUPHAR - 1240 - - - OMIM - 612349 - - - Reactome - P00439 - - - SwissProt - P00439 - - - ClinVar - PAH - - - - - 12q23.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79259 - Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib - - Clinical subtype - - - Subtype of disorder - - - - - - solute carrier family 37 member 4 - SLC37A4 - - GSD1b - GSD1c - GSD1d - G6PT - glucose-6-phosphatase transporter - sugar-phosphate exchange protein 4 - SPX4 - Glucose-6-phosphate exchanger SLC37A4 - - - gene with protein product - - - - Ensembl - ENSG00000137700 - - - Genatlas - SLC37A4 - - - HGNC - 4061 - - - OMIM - 602671 - - - Reactome - O43826 - - - SwissProt - O43826 - - - IUPHAR - 1168 - - - ClinVar - SLC37A4 - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79258 - Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia - - Clinical subtype - - - Subtype of disorder - - - - - - glucose-6-phosphatase catalytic subunit 1 - G6PC1 - - GSD1a - glycogen storage disease type I, von Gierke disease - G6PC1 - - - gene with protein product - - - - ClinVar - G6PC - - - HGNC - 4056 - - - OMIM - 613742 - - - Reactome - P35575 - - - SwissProt - P35575 - - - Ensembl - ENSG00000131482 - - - Genatlas - G6PC - - - - - 17q21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79246 - Pyruvate dehydrogenase phosphatase deficiency - - Clinical subtype - - - Subtype of disorder - - - - 15855260[PMID] - - pyruvate dehydrogenase phosphatase catalytic subunit 1 - PDP1 - - PDH - PDP - PPM2A - protein phosphatase, Mg2+/Mn2+ dependent 2A - - - gene with protein product - - - - ClinVar - PDP1 - - - Ensembl - ENSG00000164951 - - - Genatlas - PDP1 - - - HGNC - 9279 - - - OMIM - 605993 - - - Reactome - Q9P0J1 - - - SwissProt - Q9P0J1 - - - - - 8q22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79253 - Mild phenylketonuria - - Clinical subtype - - - Subtype of disorder - - - - 20301677[PMID] - - phenylalanine hydroxylase - PAH - - PH - phenylalanine 4-monooxygenase - - - gene with protein product - - - - Ensembl - ENSG00000171759 - - - Genatlas - PAH - - - HGNC - 8582 - - - IUPHAR - 1240 - - - OMIM - 612349 - - - Reactome - P00439 - - - SwissProt - P00439 - - - ClinVar - PAH - - - - - 12q23.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79240 - Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency - - Disease - - - Disorder - - - - - - phosphorylase kinase regulatory subunit beta - PHKB - - - - gene with protein product - - - - Ensembl - ENSG00000102893 - - - Genatlas - PHKB - - - HGNC - 8927 - - - OMIM - 172490 - - - Reactome - Q93100 - - - SwissProt - Q93100 - - - ClinVar - PHKB - - - - - 16q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79241 - Biotinidase deficiency - - Disease - - - Disorder - - - - 20301497[PMID] - - biotinidase - BTD - - biotinase - biocytinase - - - gene with protein product - - - - HGNC - 1122 - - - OMIM - 609019 - - - Reactome - P43251 - - - SwissProt - P43251 - - - Ensembl - ENSG00000169814 - - - Genatlas - BTD - - - ClinVar - BTD - - - - - 3p25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79239 - Classic galactosemia - - Disease - - - Disorder - - - - 20301691[PMID] - - galactose-1-phosphate uridylyltransferase - GALT - - - - gene with protein product - - - - ClinVar - GALT - - - Ensembl - ENSG00000213930 - - - Genatlas - GALT - - - HGNC - 4135 - - - OMIM - 606999 - - - Reactome - P07902 - - - SwissProt - P07902 - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79244 - Pyruvate dehydrogenase E2 deficiency - - Clinical subtype - - - Subtype of disorder - - - - 16049940[PMID] - - dihydrolipoamide S-acetyltransferase - DLAT - - dihydrolipoyllysine-residue acetyltransferase - dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial - E2 component of pyruvate dehydrogenase complex - PDC-E2 - E2 - - - gene with protein product - - - - Ensembl - ENSG00000150768 - - - Genatlas - DLAT - - - HGNC - 2896 - - - OMIM - 608770 - - - Reactome - P10515 - - - SwissProt - P10515 - - - ClinVar - DLAT - - - - - 11q23.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79242 - Holocarboxylase synthetase deficiency - - Disease - - - Disorder - - - - 16134170[PMID] - - holocarboxylase synthetase - HLCS - - biotin--protein ligase - HCS - - - gene with protein product - - - - ClinVar - HLCS - - - Ensembl - ENSG00000159267 - - - Genatlas - HLCS - - - HGNC - 4976 - - - OMIM - 609018 - - - Reactome - P50747 - - - SwissProt - P50747 - - - - - 21q22.13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79243 - Pyruvate dehydrogenase E1-alpha deficiency - - Clinical subtype - - - Subtype of disorder - - - - 10679936[PMID]_15384102[PMID]_20002461[PMID] - - pyruvate dehydrogenase E1 subunit alpha 1 - PDHA1 - - pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial - E1alpha - - - gene with protein product - - - - Ensembl - ENSG00000131828 - - - Genatlas - PDHA1 - - - HGNC - 8806 - - - OMIM - 300502 - - - Reactome - P08559 - - - SwissProt - P08559 - - - ClinVar - PDHA1 - - - - - Xp22.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30304514[PMID] - - lon peptidase 1, mitochondrial - LONP1 - - LonHS - PIM1 - hLON - Mitochondrial ATP-dependent protease Lon - - - gene with protein product - - - - IUPHAR - 3180 - - - ClinVar - LONP1 - - - Genatlas - LONP1 - - - HGNC - 9479 - - - OMIM - 605490 - - - SwissProt - P36776 - - - Ensembl - ENSG00000196365 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79299 - Congenital glucokinase-related hyperinsulinism - - Disease - - - Disorder - - - - 9435328[PMID]_25733449[PMID] - - glucokinase - GCK - - HK4 - hexokinase 4 - HKIV - - - gene with protein product - - - - ClinVar - GCK - - - Ensembl - ENSG00000106633 - - - Genatlas - GCK - - - HGNC - 4195 - - - OMIM - 138079 - - - Reactome - P35557 - - - SwissProt - P35557 - - - IUPHAR - 2798 - - - - - 7p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79301 - Congenital bile acid synthesis defect type 1 - - Disease - - - Disorder - - - - 12679481[PMID] - - hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 - HSD3B7 - - C(27)-3BETA-HSD - SDR11E3 - short chain dehydrogenase/reductase family 11E, member 3 - - - gene with protein product - - - - Ensembl - ENSG00000099377 - - - Genatlas - HSD3B7 - - - HGNC - 18324 - - - OMIM - 607764 - - - Reactome - Q9H2F3 - - - SwissProt - Q9H2F3 - - - ClinVar - HSD3B7 - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79293 - Familial LCAT deficiency - - Clinical subtype - - - Subtype of disorder - - - - 9162740[PMID] - - lecithin-cholesterol acyltransferase - LCAT - - phosphatidylcholine--sterol O-acyltransferase - - - gene with protein product - - - - Ensembl - ENSG00000213398 - - - Genatlas - LCAT - - - HGNC - 6522 - - - OMIM - 606967 - - - Reactome - P04180 - - - SwissProt - P04180 - - - ClinVar - LCAT - - - - - 16q22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79292 - Fish-eye disease - - Clinical subtype - - - Subtype of disorder - - - - 9162740[PMID] - - lecithin-cholesterol acyltransferase - LCAT - - phosphatidylcholine--sterol O-acyltransferase - - - gene with protein product - - - - Ensembl - ENSG00000213398 - - - Genatlas - LCAT - - - HGNC - 6522 - - - OMIM - 606967 - - - Reactome - P04180 - - - SwissProt - P04180 - - - ClinVar - LCAT - - - - - 16q22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79278 - Autosomal erythropoietic protoporphyria - - Disease - - - Disorder - - - - 23016163[PMID] - - ferrochelatase - FECH - - protoporphyria - - - gene with protein product - - - - ClinVar - FECH - - - Ensembl - ENSG00000066926 - - - Genatlas - FECH - - - HGNC - 3647 - - - OMIM - 612386 - - - Reactome - P22830 - - - SwissProt - P22830 - - - - - 18q21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79279 - Alpha-N-acetylgalactosaminidase deficiency type 1 - - Clinical subtype - - - Subtype of disorder - - - - - - alpha-N-acetylgalactosaminidase - NAGA - - D22S674 - alpha-galactosidase B - - - gene with protein product - - - - Ensembl - ENSG00000198951 - - - Genatlas - NAGA - - - HGNC - 7631 - - - OMIM - 104170 - - - SwissProt - P17050 - - - ClinVar - NAGA - - - - - 22q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79280 - Alpha-N-acetylgalactosaminidase deficiency type 2 - - Clinical subtype - - - Subtype of disorder - - - - - - alpha-N-acetylgalactosaminidase - NAGA - - D22S674 - alpha-galactosidase B - - - gene with protein product - - - - Ensembl - ENSG00000198951 - - - Genatlas - NAGA - - - HGNC - 7631 - - - OMIM - 104170 - - - SwissProt - P17050 - - - ClinVar - NAGA - - - - - 22q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79281 - Alpha-N-acetylgalactosaminidase deficiency type 3 - - Clinical subtype - - - Subtype of disorder - - - - - - alpha-N-acetylgalactosaminidase - NAGA - - D22S674 - alpha-galactosidase B - - - gene with protein product - - - - Ensembl - ENSG00000198951 - - - Genatlas - NAGA - - - HGNC - 7631 - - - OMIM - 104170 - - - SwissProt - P17050 - - - ClinVar - NAGA - - - - - 22q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282 - Methylmalonic acidemia with homocystinuria, type cblC - - Clinical subtype - - - Subtype of disorder - - - - 16311595[PMID]_21497120[PMID] - - metabolism of cobalamin associated C - MMACHC - - DKFZP564I122 - cblC - - - gene with protein product - - - - Ensembl - ENSG00000132763 - - - Genatlas - MMACHC - - - HGNC - 24525 - - - OMIM - 609831 - - - Reactome - Q9Y4U1 - - - SwissProt - Q9Y4U1 - - - ClinVar - MMACHC - - - - - 1p34.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79283 - Methylmalonic acidemia with homocystinuria, type cblD - - Clinical subtype - - - Subtype of disorder - - - - 20301409[PMID]_20301503[PMID] - - metabolism of cobalamin associated D - MMADHC - - CL25022 - cblD - - - gene with protein product - - - - Ensembl - ENSG00000168288 - - - Genatlas - MMADHC - - - HGNC - 25221 - - - OMIM - 611935 - - - Reactome - Q9H3L0 - - - SwissProt - Q9H3L0 - - - ClinVar - MMADHC - - - - - 2q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79284 - Methylmalonic acidemia with homocystinuria type cblF - - Clinical subtype - - - Subtype of disorder - - - - 20301503[PMID] - - LMBR1 domain containing 1 - LMBRD1 - - FLJ11240 - bA810I22.1 - cblF - - - gene with protein product - - - - Ensembl - ENSG00000168216 - - - Genatlas - LMBRD1 - - - HGNC - 23038 - - - OMIM - 612625 - - - Reactome - Q9NUN5 - - - SwissProt - Q9NUN5 - - - ClinVar - LMBRD1 - - - - - 6q13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270 - Sanfilippo syndrome type B - - Etiological subtype - - - Subtype of disorder - - - - 16151907[PMID] - - N-acetyl-alpha-glucosaminidase - NAGLU - - NAG - Sanfilippo disease IIIB - - - gene with protein product - - - - Ensembl - ENSG00000108784 - - - Genatlas - NAGLU - - - HGNC - 7632 - - - OMIM - 609701 - - - Reactome - P54802 - - - SwissProt - P54802 - - - ClinVar - NAGLU - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271 - Sanfilippo syndrome type C - - Etiological subtype - - - Subtype of disorder - - - - 17033958[PMID] - - heparan-alpha-glucosaminide N-acetyltransferase - HGSNAT - - FLJ32731 - HGNAT - - - gene with protein product - - - - ClinVar - HGSNAT - - - SwissProt - Q68CP4 - - - Ensembl - ENSG00000165102 - - - Genatlas - HGSNAT - - - HGNC - 26527 - - - OMIM - 610453 - - - Reactome - Q68CP4 - - - - - 8p11.21-p11.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272 - Sanfilippo syndrome type D - - Etiological subtype - - - Subtype of disorder - - - - 12573255[PMID]_17998446[PMID] - - glucosamine (N-acetyl)-6-sulfatase - GNS - - N-acetylglucosamine-6-sulfatase - Sanfilippo disease IIID - - - gene with protein product - - - - ClinVar - GNS - - - Ensembl - ENSG00000135677 - - - Genatlas - GNS - - - HGNC - 4422 - - - OMIM - 607664 - - - Reactome - P15586 - - - SwissProt - P15586 - - - - - 12q14.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79273 - Hereditary coproporphyria - - Disease - - - Disorder - - - - 23236641[PMID] - - coproporphyrinogen oxidase - CPOX - - CPX - HCP - coproporphyria - homozygous coproporphyria - - - gene with protein product - - - - Ensembl - ENSG00000080819 - - - Genatlas - CPOX - - - HGNC - 2321 - - - OMIM - 612732 - - - Reactome - P36551 - - - SwissProt - P36551 - - - ClinVar - CPOX - - - - - 3q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79276 - Acute intermittent porphyria - - Disease - - - Disorder - - - - 20301372[PMID] - - hydroxymethylbilane synthase - HMBS - - - - gene with protein product - - - - ClinVar - HMBS - - - SwissProt - P08397 - - - Ensembl - ENSG00000256269 - - - Genatlas - HMBS - - - HGNC - 4982 - - - OMIM - 609806 - - - Reactome - P08397 - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79277 - Congenital erythropoietic porphyria - - Disease - - - Disorder - - - - 24027798[PMID] - - uroporphyrinogen III synthase - UROS - - congenital erythropoietic porphyria - - - gene with protein product - - - - Ensembl - ENSG00000188690 - - - Genatlas - UROS - - - HGNC - 12592 - - - OMIM - 606938 - - - Reactome - P10746 - - - SwissProt - P10746 - - - ClinVar - UROS - - - - - 10q26.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24027798[PMID]_17148589[PMID] - - GATA binding protein 1 - GATA1 - - ERYF1 - GATA-1 - NF-E1 - NFE1 - nuclear factor, erythroid 1 - - - gene with protein product - - - - ClinVar - GATA1 - - - Ensembl - ENSG00000102145 - - - Genatlas - GATA1 - - - HGNC - 4170 - - - OMIM - 305371 - - - Reactome - P15976 - - - SwissProt - P15976 - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79333 - COG7-CDG - - Disease - - - Disorder - - - - 20301507[PMID] - - component of oligomeric golgi complex 7 - COG7 - - - - gene with protein product - - - - ClinVar - COG7 - - - Reactome - P83436 - - - SwissProt - P83436 - - - Ensembl - ENSG00000168434 - - - Genatlas - COG7 - - - HGNC - 18622 - - - OMIM - 606978 - - - - - 16p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79332 - B4GALT1-CDG - - Disease - - - Disorder - - - - 20301507[PMID] - - beta-1,4-galactosyltransferase 1 - B4GALT1 - - N-acetyllactosamine synthase - Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase - lactose synthase A - beta4Gal-T1 - - - gene with protein product - - - - ClinVar - B4GALT1 - - - Reactome - P15291 - - - SwissProt - P15291 - - - Ensembl - ENSG00000086062 - - - Genatlas - B4GALT1 - - - HGNC - 924 - - - OMIM - 137060 - - - - - 9p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79330 - MOGS-CDG - - Disease - - - Disorder - - - - 20301507[PMID] - - mannosyl-oligosaccharide glucosidase - MOGS - - CWH41 - DER7 - GCS1 - glucosidase I - processing A-glucosidase I - - - gene with protein product - - - - ClinVar - MOGS - - - Ensembl - ENSG00000115275 - - - Genatlas - MOGS - - - HGNC - 24862 - - - OMIM - 601336 - - - Reactome - Q13724 - - - SwissProt - Q13724 - - - - - 2p13.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79329 - MGAT2-CDG - - Disease - - - Disorder - - - - 20301507[PMID] - - alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase - MGAT2 - - GNT-II - - - gene with protein product - - - - Genatlas - MGAT2 - - - HGNC - 7045 - - - OMIM - 602616 - - - Reactome - Q10469 - - - SwissProt - Q10469 - - - Ensembl - ENSG00000168282 - - - ClinVar - MGAT2 - - - - - 14q21.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79328 - ALG9-CDG - - Disease - - - Disorder - - - - 20301507[PMID] - - ALG9 alpha-1,2-mannosyltransferase - ALG9 - - dol-P-Man dependent alpha-1,2-mannosyltransferase - dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase - dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase - - - gene with protein product - - - - Ensembl - ENSG00000086848 - - - Genatlas - ALG9 - - - HGNC - 15672 - - - OMIM - 606941 - - - Reactome - Q9H6U8 - - - SwissProt - Q9H6U8 - - - ClinVar - ALG9 - - - - - 11q23.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79327 - ALG1-CDG - - Disease - - - Disorder - - - - 20301507[PMID] - - ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase - ALG1 - - HMT-1 - Mat-1 - CDG1K - HMAT1 - - - gene with protein product - - - - Genatlas - ALG1 - - - HGNC - 18294 - - - OMIM - 605907 - - - Reactome - Q9BT22 - - - SwissProt - Q9BT22 - - - Ensembl - ENSG00000033011 - - - ClinVar - ALG1 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79326 - ALG2-CDG - - Disease - - - Disorder - - - - 20301507[PMID] - - ALG2 alpha-1,3/1,6-mannosyltransferase - ALG2 - - CDGIi - FLJ14511 - NET38 - hALPG2 - CDG1I - - - gene with protein product - - - - Ensembl - ENSG00000119523 - - - Genatlas - ALG2 - - - HGNC - 23159 - - - OMIM - 607905 - - - Reactome - Q9H553 - - - SwissProt - Q9H553 - - - ClinVar - ALG2 - - - - - 9q22.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79325 - ALG8-CDG - - Disease - - - Disorder - - - - 20301507[PMID] - - ALG8 alpha-1,3-glucosyltransferase - ALG8 - - MGC2840 - dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase - - - gene with protein product - - - - Ensembl - ENSG00000159063 - - - Genatlas - ALG8 - - - HGNC - 23161 - - - OMIM - 608103 - - - Reactome - Q9BVK2 - - - SwissProt - Q9BVK2 - - - ClinVar - ALG8 - - - - - 11q14.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79324 - ALG12-CDG - - Disease - - - Disorder - - - - 20301507[PMID] - - ALG12 alpha-1,6-mannosyltransferase - ALG12 - - ECM39 - dol-P-Man dependent alpha-1,6-mannosyltransferase - dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase - CDG1G - - - gene with protein product - - - - Ensembl - ENSG00000182858 - - - Genatlas - ALG12 - - - HGNC - 19358 - - - OMIM - 607144 - - - Reactome - Q9BV10 - - - SwissProt - Q9BV10 - - - ClinVar - ALG12 - - - - - 22q13.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79323 - MPDU1-CDG - - Disease - - - Disorder - - - - 20301507[PMID] - - mannose-P-dolichol utilization defect 1 - MPDU1 - - SLC66A5 - CDGIf - Lec35 - PQLC5 - SL15 - - - gene with protein product - - - - ClinVar - MPDU1 - - - IUPHAR - 3164 - - - Ensembl - ENSG00000129255 - - - Genatlas - MPDU1 - - - HGNC - 7207 - - - OMIM - 604041 - - - Reactome - O75352 - - - SwissProt - O75352 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79322 - DPM1-CDG - - Disease - - - Disorder - - - - 20301507[PMID] - - dolichyl-phosphate mannosyltransferase subunit 1, catalytic - DPM1 - - CDGIE - DPM synthase complex, catalytic subunit - MPDS - - - gene with protein product - - - - ClinVar - DPM1 - - - Ensembl - ENSG00000000419 - - - Genatlas - DPM1 - - - HGNC - 3005 - - - OMIM - 603503 - - - Reactome - O60762 - - - SwissProt - O60762 - - - - - 20q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79321 - ALG3-CDG - - Disease - - - Disorder - - - - 20301507[PMID] - - ALG3 alpha-1,3- mannosyltransferase - ALG3 - - CDGS4 - D16Ertd36e - NOT56L - Not56 - carbohydrate deficient glycoprotein syndrome type IV - dol-P-Man dependent alpha-1,3- mannosyltransferase - dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase - - - gene with protein product - - - - Reactome - Q92685 - - - SwissProt - Q92685 - - - Ensembl - ENSG00000214160 - - - Genatlas - ALG3 - - - HGNC - 23056 - - - OMIM - 608750 - - - ClinVar - ALG3 - - - - - 3q27.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79320 - ALG6-CDG - - Disease - - - Disorder - - - - 20301507[PMID] - - ALG6 alpha-1,3-glucosyltransferase - ALG6 - - dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase - - - gene with protein product - - - - Ensembl - ENSG00000088035 - - - Genatlas - ALG6 - - - HGNC - 23157 - - - OMIM - 604566 - - - Reactome - Q9Y672 - - - SwissProt - Q9Y672 - - - ClinVar - ALG6 - - - - - 1p31.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79319 - MPI-CDG - - Disease - - - Disorder - - - - 20301507[PMID] - - mannose phosphate isomerase - MPI - - mannose-6-phosphate isomerase - - - gene with protein product - - - - ClinVar - MPI - - - Ensembl - ENSG00000178802 - - - Genatlas - MPI - - - HGNC - 7216 - - - OMIM - 154550 - - - Reactome - P34949 - - - SwissProt - P34949 - - - - - 15q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79318 - PMM2-CDG - - Disease - - - Disorder - - - - 20301289[PMID]_20301507[PMID] - - phosphomannomutase 2 - PMM2 - - CDG1a - CDGS - PMI - PMI1 - mannose-6-phosphate isomerase - phosphomannose isomerase 1 - Congenital disorder of glycosylation, type Ia - - - gene with protein product - - - - Ensembl - ENSG00000140650 - - - Genatlas - PMM2 - - - HGNC - 9115 - - - OMIM - 601785 - - - Reactome - O15305 - - - SwissProt - O15305 - - - ClinVar - PMM2 - - - - - 16p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79314 - L-2-hydroxyglutaric aciduria - - Disease - - - Disorder - - - - 20052767[PMID] - - L-2-hydroxyglutarate dehydrogenase - L2HGDH - - 2-hydroxyglutarate dehydrogenase - FLJ12618 - - - gene with protein product - - - - ClinVar - L2HGDH - - - Ensembl - ENSG00000087299 - - - Genatlas - L2HGDH - - - HGNC - 20499 - - - OMIM - 609584 - - - Reactome - Q9H9P8 - - - SwissProt - Q9H9P8 - - - - - 14q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79315 - D-2-hydroxyglutaric aciduria - - Disease - - - Disorder - - - - 20020533[PMID] - - D-2-hydroxyglutarate dehydrogenase - D2HGDH - - D2HGD - FLJ42195 - MGC25181 - - - gene with protein product - - - - Ensembl - ENSG00000180902 - - - Genatlas - D2HGDH - - - HGNC - 28358 - - - OMIM - 609186 - - - Reactome - Q8N465 - - - SwissProt - Q8N465 - - - ClinVar - D2HGDH - - - - - 2q37.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20847235[PMID] - - isocitrate dehydrogenase (NADP(+)) 2 - IDH2 - - IDH-2 - - - gene with protein product - - - - Ensembl - ENSG00000182054 - - - Genatlas - IDH2 - - - HGNC - 5383 - - - OMIM - 147650 - - - Reactome - P48735 - - - SwissProt - P48735 - - - IUPHAR - 2885 - - - ClinVar - IDH2 - - - - - 15q26.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 79312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79312 - Vitamin B12-unresponsive methylmalonic acidemia type mut- - - Clinical subtype - - - Subtype of disorder - - - - - - methylmalonyl-CoA mutase - MMUT - - Methylmalonyl-CoA mutase, mitochondrial - MCM - - - gene with protein product - - - - Ensembl - ENSG00000146085 - - - Genatlas - MUT - - - HGNC - 7526 - - - OMIM - 609058 - - - Reactome - P22033 - - - ClinVar - MUT - - - SwissProt - P22033 - - - - - 6p12.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79310 - Vitamin B12-responsive methylmalonic acidemia type cblA - - Clinical subtype - - - Subtype of disorder - - - - - - metabolism of cobalamin associated A - MMAA - - cblA - - - gene with protein product - - - - HGNC - 18871 - - - OMIM - 607481 - - - Reactome - Q8IVH4 - - - SwissProt - Q8IVH4 - - - Ensembl - ENSG00000151611 - - - Genatlas - MMAA - - - ClinVar - MMAA - - - - - 4q31.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79311 - Vitamin B12-responsive methylmalonic acidemia type cblB - - Clinical subtype - - - Subtype of disorder - - - - - - metabolism of cobalamin associated B - MMAB - - ATP:cob(I)alamin adenosyltransferase - CFAP23 - cblB - cilia and flagella associated protein 23 - - - gene with protein product - - - - Ensembl - ENSG00000139428 - - - Genatlas - MMAB - - - HGNC - 19331 - - - OMIM - 607568 - - - Reactome - Q96EY8 - - - SwissProt - Q96EY8 - - - ClinVar - MMAB - - - - - 12q24.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79306 - Progressive familial intrahepatic cholestasis type 1 - - Clinical subtype - - - Subtype of disorder - - - - 27532546[PMID] - - myosin VB - MYO5B - - KIAA1119 - - - gene with protein product - - - - Ensembl - ENSG00000167306 - - - Genatlas - MYO5B - - - HGNC - 7603 - - - OMIM - 606540 - - - Reactome - Q9ULV0 - - - SwissProt - Q9ULV0 - - - ClinVar - MYO5B - - - - - 18q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301474[PMID] - - ATPase phospholipid transporting 8B1 - ATP8B1 - - ATPIC - PFIC - - - gene with protein product - - - - IUPHAR - 856 - - - Ensembl - ENSG00000081923 - - - Genatlas - ATP8B1 - - - HGNC - 3706 - - - OMIM - 602397 - - - Reactome - O43520 - - - SwissProt - O43520 - - - ClinVar - ATP8B1 - - - - - 18q21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79304 - Progressive familial intrahepatic cholestasis type 2 - - Clinical subtype - - - Subtype of disorder - - - - 9806540[PMID]_15791618[PMID] - - ATP binding cassette subfamily B member 11 - ABCB11 - - ABC member 16, MDR/TAP subfamily - ABC16 - PFIC-2 - PGY4 - SPGP - - - gene with protein product - - - - IUPHAR - 778 - - - Ensembl - ENSG00000073734 - - - Genatlas - ABCB11 - - - HGNC - 42 - - - OMIM - 603201 - - - Reactome - O95342 - - - SwissProt - O95342 - - - ClinVar - ABCB11 - - - - - 2q31.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79305 - Progressive familial intrahepatic cholestasis type 3 - - Clinical subtype - - - Subtype of disorder - - - - 17726488[PMID]_21119540[PMID] - - ATP binding cassette subfamily B member 4 - ABCB4 - - GBD1 - MDR2 - PFIC-3 - - - gene with protein product - - - - Ensembl - ENSG00000005471 - - - Genatlas - ABCB4 - - - HGNC - 45 - - - OMIM - 171060 - - - IUPHAR - 771 - - - ClinVar - ABCB4 - - - Reactome - P21439 - - - SwissProt - P21439 - - - - - 7q21.12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79302 - Congenital bile acid synthesis defect type 3 - - Disease - - - Disorder - - - - 9802883[PMID] - - cytochrome P450 family 7 subfamily B member 1 - CYP7B1 - - - - gene with protein product - - - - ClinVar - CYP7B1 - - - HGNC - 2652 - - - OMIM - 603711 - - - Reactome - O75881 - - - SwissProt - O75881 - - - IUPHAR - 1355 - - - Ensembl - ENSG00000172817 - - - Genatlas - CYP7B1 - - - - - 8q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79303 - Congenital bile acid synthesis defect type 2 - - Disease - - - Disorder - - - - 12970144[PMID] - - aldo-keto reductase family 1 member D1 - AKR1D1 - - delta 4-3-ketosteroid-5-beta-reductase - - - gene with protein product - - - - Ensembl - ENSG00000122787 - - - Genatlas - AKR1D1 - - - HGNC - 388 - - - OMIM - 604741 - - - Reactome - P51857 - - - SwissProt - P51857 - - - ClinVar - AKR1D1 - - - - - 7q33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79351 - 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form - - Etiological subtype - - - Subtype of disorder - - - - 11055895[PMID] - - phosphoglycerate dehydrogenase - PHGDH - - PDG - PGDH - SERA - D-3-phosphoglycerate dehydrogenase - - - gene with protein product - - - - ClinVar - PHGDH - - - Ensembl - ENSG00000092621 - - - Genatlas - PHGDH - - - HGNC - 8923 - - - OMIM - 606879 - - - Reactome - O43175 - - - SwissProt - O43175 - - - - - 1p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79350 - 3-phosphoserine phosphatase deficiency, infantile/juvenile form - - Etiological subtype - - - Subtype of disorder - - - - 14673469[PMID] - - phosphoserine phosphatase - PSPH - - - - gene with protein product - - - - ClinVar - PSPH - - - Ensembl - ENSG00000146733 - - - Genatlas - PSPH - - - HGNC - 9577 - - - OMIM - 172480 - - - Reactome - P78330 - - - SwissProt - P78330 - - - - - 7p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79345 - Brachytelephalangic chondrodysplasia punctata - - Malformation syndrome - - - Disorder - - - - 20301713[PMID] - - arylsulfatase L - ARSL - - chondrodysplasia punctata 1 - - - gene with protein product - - - - ClinVar - ARSE - - - Ensembl - ENSG00000157399 - - - Genatlas - ARSE - - - HGNC - 719 - - - OMIM - 300180 - - - Reactome - P51690 - - - SwissProt - P51690 - - - - - Xp22.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85191 - Singleton-Merten dysplasia - - Malformation syndrome - - - Disorder - - - - 25620204[PMID] - - interferon induced with helicase C domain 1 - IFIH1 - - Hlcd - IDDM19 - MDA-5 - MDA5 - helicard - melanoma differentiation-associated gene 5 - - - gene with protein product - - - - IUPHAR - 2921 - - - Ensembl - ENSG00000115267 - - - Genatlas - IFIH1 - - - HGNC - 18873 - - - OMIM - 606951 - - - Reactome - Q9BYX4 - - - SwissProt - Q9BYX4 - - - ClinVar - IFIH1 - - - - - 2q24.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 25620203[PMID] - - RNA sensor RIG-I - RIGI - - DKFZp434J1111 - FLJ13599 - RIG-I - RNA helicase RIG-I - retinoic acid inducible gene I - RIG-1 - RIG1 - Antiviral innate immune response receptor RIG-I - - - gene with protein product - - - - Ensembl - ENSG00000107201 - - - Genatlas - DDX58 - - - HGNC - 19102 - - - OMIM - 609631 - - - Reactome - O95786 - - - SwissProt - O95786 - - - ClinVar - DDX58 - - - IUPHAR - 2920 - - - - - 9p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85193 - Idiopathic juvenile osteoporosis - - Malformation syndrome - - - Disorder - - - - 22789636[PMID] - - Wnt family member 3A - WNT3A - - - - gene with protein product - - - - ClinVar - WNT3A - - - Ensembl - ENSG00000154342 - - - Genatlas - WNT3A - - - HGNC - 15983 - - - OMIM - 606359 - - - Reactome - P56704 - - - SwissProt - P56704 - - - - - 1q42.13 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22789636[PMID] - - dickkopf WNT signaling pathway inhibitor 1 - DKK1 - - DKK-1 - SK - - - gene with protein product - - - - ClinVar - DKK1 - - - Ensembl - ENSG00000107984 - - - Genatlas - DKK1 - - - HGNC - 2891 - - - OMIM - 605189 - - - Reactome - O94907 - - - SwissProt - O94907 - - - - - 10q21.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23499309[PMID] - - Wnt family member 1 - WNT1 - - - - gene with protein product - - - - ClinVar - WNT1 - - - Ensembl - ENSG00000125084 - - - Genatlas - WNT1 - - - HGNC - 12774 - - - OMIM - 164820 - - - Reactome - P04628 - - - SwissProt - P04628 - - - - - 12q13.12 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 85195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85195 - Familial expansile osteolysis - - Disease - - - Disorder - - - - 10615125[PMID] - - TNF receptor superfamily member 11a - TNFRSF11A - - CD265 - FEO - RANK - osteoclast differentiation factor receptor - ODFR - receptor activator of nuclear factor kappa B - TRANCE-R - TRANCE receptor - familial expansile osteolysis - - - gene with protein product - - - - IUPHAR - 1881 - - - Ensembl - ENSG00000141655 - - - Genatlas - TNFRSF11A - - - HGNC - 11908 - - - OMIM - 603499 - - - Reactome - Q9Y6Q6 - - - SwissProt - Q9Y6Q6 - - - ClinVar - TNFRSF11A - - - - - 18q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85194 - Spondylo-ocular syndrome - - Malformation syndrome - - - Disorder - - - - 26027496[PMID] - - xylosyltransferase 2 - XYLT2 - - PXYLT2 - XT-II - protein xylosyltransferase 2 - - - gene with protein product - - - - Ensembl - ENSG00000015532 - - - Genatlas - XYLT2 - - - HGNC - 15517 - - - OMIM - 608125 - - - SwissProt - Q9H1B5 - - - Reactome - Q9H1B5 - - - ClinVar - XYLT2 - - - - - 17q21.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 85199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85199 - Craniosynostosis-anal anomalies-porokeratosis syndrome - - Malformation syndrome - - - Disorder - - - - 34085356[PMID] - - RNA, U12 small nuclear - RNU12 - - RNA, U12 small nuclear 1 - RNU12-1 - - - Non-coding RNA - - - - HGNC - 19380 - - - Ensembl - ENSG00000276027 - - - OMIM - 620204 - - - SwissProt - - - - - - 22q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85198 - Dysspondyloenchondromatosis - - Malformation syndrome - - - Disorder - - - - 22570642[PMID]_26250472[PMID] - - collagen type II alpha 1 chain - COL2A1 - - STL1 - - - gene with protein product - - - - ClinVar - COL2A1 - - - Ensembl - ENSG00000139219 - - - Genatlas - COL2A1 - - - HGNC - 2200 - - - OMIM - 120140 - - - Reactome - P02458 - - - SwissProt - P02458 - - - - - 12q13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85201 - Genitopatellar syndrome - - Malformation syndrome - - - Disorder - - - - 23236640[PMID]_22265017[PMID]_22265014[PMID] - - lysine acetyltransferase 6B - KAT6B - - qkf - querkopf - MOZ-related factor - MOZ2 - Morf - ZC2HC6B - - - gene with protein product - - - - ClinVar - KAT6B - - - OMIM - 605880 - - - Reactome - Q8WYB5 - - - SwissProt - Q8WYB5 - - - Ensembl - ENSG00000156650 - - - Genatlas - KAT6B - - - HGNC - 17582 - - - IUPHAR - 2666 - - - - - 10q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85202 - Keutel syndrome - - Malformation syndrome - - - Disorder - - - - 9916809[PMID]_15810001[PMID] - - matrix Gla protein - MGP - - - - gene with protein product - - - - Ensembl - ENSG00000111341 - - - Genatlas - MGP - - - HGNC - 7060 - - - OMIM - 154870 - - - SwissProt - P08493 - - - ClinVar - MGP - - - - - 12p12.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 85212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85212 - Fetal Gaucher disease - - Clinical subtype - - - Subtype of disorder - - - - 20946052[PMID]_20301446[PMID] - - glucosylceramidase beta 1 - GBA1 - - GBA1 - glucocerebrosidase - - - gene with protein product - - - - ClinVar - GBA - - - Ensembl - ENSG00000177628 - - - Genatlas - GBA - - - HGNC - 4177 - - - OMIM - 606463 - - - Reactome - P04062 - - - SwissProt - P04062 - - - IUPHAR - 2978 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85277 - X-linked intellectual disability, Cantagrel type - - Malformation syndrome - - - Disorder - - - - 23615299[PMID] - - neurite extension and migration factor - NEXMIF - - KIDLIA - MRX98 - XLMR-related protein, neurite extension - XPN - - - gene with protein product - - - - ClinVar - KIAA2022 - - - Ensembl - ENSG00000050030 - - - Genatlas - KIAA2022 - - - HGNC - 29433 - - - OMIM - 300524 - - - SwissProt - Q5QGS0 - - - - - Xq13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 85278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85278 - Christianson syndrome - - Malformation syndrome - - - Disorder - - - - 18342287[PMID] - - solute carrier family 9 member A6 - SLC9A6 - - KIAA0267 - NHE6 - NHE-6 - Sodium/hydrogen exchanger 6 - - - gene with protein product - - - - ClinVar - SLC9A6 - - - Ensembl - ENSG00000198689 - - - Genatlas - SLC9A6 - - - HGNC - 11079 - - - OMIM - 300231 - - - Reactome - Q92581 - - - SwissProt - Q92581 - - - IUPHAR - 953 - - - - - Xq26.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85279 - KDM5C-related syndromic X-linked intellectual disability - - Malformation syndrome - - - Disorder - - - - 15586325[PMID] - - lysine demethylase 5C - KDM5C - - DXS1272E - XE169 - - - gene with protein product - - - - Ensembl - ENSG00000126012 - - - Genatlas - KDM5C - - - HGNC - 11114 - - - IUPHAR - 2682 - - - OMIM - 314690 - - - Reactome - P41229 - - - SwissProt - P41229 - - - ClinVar - KDM5C - - - - - Xp11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85282 - MEHMO syndrome - - Malformation syndrome - - - Disorder - - - - 28055140[PMID] - - eukaryotic translation initiation factor 2 subunit gamma - EIF2S3 - - EIF2 - EIF2gamma - eukaryotic translation initiation factor 2G - - - gene with protein product - - - - Reactome - P41091 - - - SwissProt - P41091 - - - OMIM - 300161 - - - Ensembl - ENSG00000130741 - - - ClinVar - EIF2S3 - - - HGNC - 3267 - - - Genatlas - EIF2S3 - - - - - Xp22.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85284 - BRESEK syndrome - - Malformation syndrome - - - Disorder - - - - 22105905[PMID] - - membrane bound transcription factor peptidase, site 2 - MBTPS2 - - sterol regulatory element-binding proteins intramembrane protease - S2P - site-2 protease - - - gene with protein product - - - - Ensembl - ENSG00000012174 - - - Genatlas - MBTPS2 - - - HGNC - 15455 - - - OMIM - 300294 - - - Reactome - O43462 - - - SwissProt - O43462 - - - ClinVar - MBTPS2 - - - - - Xp22.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85286 - X-linked intellectual disability, Shashi type - - Malformation syndrome - - - Disorder - - - - 25256757[PMID]_34260915[PMID] - - RNA binding motif protein X-linked - RBMX - - HNRNPG - RNMX - heterogeneous nuclear ribonucleoprotein G - hnRNP-G - - - gene with protein product - - - - Ensembl - ENSG00000147274 - - - SwissProt - P38159 - - - OMIM - 300199 - - - HGNC - 9910 - - - - - Xq26.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85287 - X-linked intellectual disability, Siderius type - - Malformation syndrome - - - Disorder - - - - 17661819[PMID] - - PHD finger protein 8 - PHF8 - - KDM7B - zinc finger protein 422 - JHDM1F - KIAA1111 - ZNF422 - jumonji C domain-containing histone demethylase 1F - lysine demethylase 7B - histone lysine demethylase PHF8 - - - gene with protein product - - - - Ensembl - ENSG00000172943 - - - Genatlas - PHF8 - - - HGNC - 20672 - - - IUPHAR - 2698 - - - OMIM - 300560 - - - Reactome - Q9UPP1 - - - SwissProt - Q9UPP1 - - - ClinVar - PHF8 - - - - - Xp11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85288 - X-linked intellectual disability, Stocco Dos Santos type - - Malformation syndrome - - - Disorder - - - - 16249884[PMID] - - shroom family member 4 - SHROOM4 - - KIAA1202 - Protein Shroom4 - Shrm4 - Second homolog of apical protein - SHAP - - - gene with protein product - - - - ClinVar - SHROOM4 - - - Ensembl - ENSG00000158352 - - - Genatlas - SHROOM4 - - - HGNC - 29215 - - - OMIM - 300579 - - - SwissProt - Q9ULL8 - - - - - Xp11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85293 - X-linked intellectual disability, Cabezas type - - Malformation syndrome - - - Disorder - - - - 17236139[PMID]_2000245[PMID] - - cullin 4B - CUL4B - - - - gene with protein product - - - - ClinVar - CUL4B - - - Ensembl - ENSG00000158290 - - - Genatlas - CUL4B - - - HGNC - 2555 - - - OMIM - 300304 - - - Reactome - Q13620 - - - SwissProt - Q13620 - - - - - Xq24 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85295 - HSD10 disease, atypical type - - Clinical subtype - - - Subtype of disorder - - - - 22127393[PMID] - - hydroxysteroid 17-beta dehydrogenase 10 - HSD17B10 - - 17b-HSD10 - AB-binding alcohol dehydrogenase - ABAD - CAMR - ERAB - MHBD - MRPP2 - SDR5C1 - mitochondrial RNase P subunit 2 - short chain dehydrogenase/reductase family 5C, member 1 - type 10 17b-HSD - type 10 17beta-hydroxysteroid dehydrogenase - - - gene with protein product - - - - Ensembl - ENSG00000072506 - - - Genatlas - HSD17B10 - - - HGNC - 4800 - - - OMIM - 300256 - - - Reactome - Q99714 - - - SwissProt - Q99714 - - - ClinVar - HSD17B10 - - - - - Xp11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85294 - X-linked epilepsy-learning disabilities-behavior disorders syndrome - - Disease - - - Disorder - - - - 14985377[PMID] - - synapsin I - SYN1 - - Synapsin-1 - - - gene with protein product - - - - Ensembl - ENSG00000008056 - - - Genatlas - SYN1 - - - HGNC - 11494 - - - OMIM - 313440 - - - Reactome - P17600 - - - SwissProt - P17600 - - - ClinVar - SYN1 - - - - - Xp11.3-p11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85329 - X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome - - Malformation syndrome - - - Disorder - - - - 17186471[PMID]_12599187[PMID] - - adaptor related protein complex 1 subunit sigma 2 - AP1S2 - - SIGMA1B - - - gene with protein product - - - - Ensembl - ENSG00000182287 - - - Genatlas - AP1S2 - - - HGNC - 560 - - - OMIM - 300629 - - - Reactome - P56377 - - - SwissProt - P56377 - - - ClinVar - AP1S2 - - - - - Xp22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85335 - Fried syndrome - - Malformation syndrome - - - Disorder - - - - 17617514[PMID] - - adaptor related protein complex 1 subunit sigma 2 - AP1S2 - - SIGMA1B - - - gene with protein product - - - - Ensembl - ENSG00000182287 - - - Genatlas - AP1S2 - - - HGNC - 560 - - - OMIM - 300629 - - - Reactome - P56377 - - - SwissProt - P56377 - - - ClinVar - AP1S2 - - - - - Xp22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85410 - Oligoarticular juvenile idiopathic arthritis - - Disease - - - Disorder - - - - 23603761[PMID] - - protein tyrosine phosphatase non-receptor type 22 - PTPN22 - - Lyp - Lyp1 - Lyp2 - - - gene with protein product - - - - Ensembl - ENSG00000134242 - - - Genatlas - PTPN22 - - - HGNC - 9652 - - - OMIM - 600716 - - - SwissProt - Q9Y2R2 - - - IUPHAR - 3084 - - - Reactome - Q9Y2R2 - - - ClinVar - PTPN22 - - - - - 1p13.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23603761[PMID] - - signal transducer and activator of transcription 4 - STAT4 - - - - gene with protein product - - - - Ensembl - ENSG00000138378 - - - Genatlas - STAT4 - - - HGNC - 11365 - - - OMIM - 600558 - - - SwissProt - Q14765 - - - Reactome - Q14765 - - - ClinVar - STAT4 - - - - - 2q32.2-q32.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22294642[PMID] - - interleukin 2 receptor subunit alpha - IL2RA - - CD25 - - - gene with protein product - - - - Ensembl - ENSG00000134460 - - - Genatlas - IL2RA - - - HGNC - 6008 - - - OMIM - 147730 - - - Reactome - P01589 - - - SwissProt - P01589 - - - IUPHAR - 1695 - - - ClinVar - IL2RA - - - - - 10p15.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22294642[PMID] - - CD247 molecule - CD247 - - T-cell surface glycoprotein CD3 zeta chain - CD3H - CD3Q - TCRZ - CD3-ZETA - CD3ZETA - - - gene with protein product - - - - IUPHAR - 3142 - - - Ensembl - ENSG00000198821 - - - Genatlas - CD247 - - - HGNC - 1677 - - - OMIM - 186780 - - - Reactome - P20963 - - - SwissProt - P20963 - - - ClinVar - CD247 - - - - - 1q24.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22294642[PMID] - - protein tyrosine phosphatase non-receptor type 2 - PTPN2 - - TC48 - TC45 - TC-PTP - TCELLPTP - TCPTP - - - gene with protein product - - - - ClinVar - PTPN2 - - - Ensembl - ENSG00000175354 - - - Genatlas - PTPN2 - - - HGNC - 9650 - - - OMIM - 176887 - - - Reactome - P17706 - - - SwissProt - P17706 - - - IUPHAR - 3255 - - - - - 18p11.21 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23603761[PMID] - - ankyrin repeat domain 55 - ANKRD55 - - FLJ11795 - - - gene with protein product - - - - ClinVar - ANKRD55 - - - Reactome - Q3KP44 - - - Ensembl - ENSG00000164512 - - - Genatlas - ANKRD55 - - - HGNC - 25681 - - - OMIM - 615189 - - - SwissProt - Q3KP44 - - - - - 5q11.2 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - 23603761[PMID] - - interleukin 2 receptor subunit beta - IL2RB - - CD122 - - - gene with protein product - - - - ClinVar - IL2RB - - - IUPHAR - 1696 - - - Ensembl - ENSG00000100385 - - - Genatlas - IL2RB - - - HGNC - 6009 - - - OMIM - 146710 - - - Reactome - P14784 - - - SwissProt - P14784 - - - - - 22q12.3 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - 85414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85414 - Systemic-onset juvenile idiopathic arthritis - - Disease - - - Disorder - - - - 26598658[PMID] - - major histocompatibility complex, class II, DR beta 1 - HLA-DRB1 - - - - gene with protein product - - - - ClinVar - HLA-DRB1 - - - Ensembl - ENSG00000196126 - - - Genatlas - HLA-DRB1 - - - HGNC - 4948 - - - OMIM - 142857 - - - Reactome - P04229 - - - SwissProt - P01911 - - - - - 6p21.32 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - macrophage migration inhibitory factor - MIF - - phenylpyruvate tautomerase - glycosylation-inhibiting factor - GIF - - - gene with protein product - - - - SwissProt - P14174 - - - Ensembl - ENSG00000240972 - - - Genatlas - MIF - - - HGNC - 7097 - - - OMIM - 153620 - - - Reactome - P14174 - - - ClinVar - MIF - - - - - 22q11.23 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - interleukin 6 - IL6 - - BSF2 - HGF - HSF - IL-6 - interferon, beta 2 - - - gene with protein product - - - - ClinVar - IL6 - - - Ensembl - ENSG00000136244 - - - Genatlas - IL6 - - - HGNC - 6018 - - - OMIM - 147620 - - - Reactome - P05231 - - - SwissProt - P05231 - - - - - 7p15.3 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - 25220867[PMID] - - laccase domain containing 1 - LACC1 - - isocyanic acid synthase - fatty acid metabolism–immunity nexus - FLJ38725 - FAMIN - fatty acid metabolism–immunity nexus - - - gene with protein product - - - - Ensembl - ENSG00000179630 - - - Genatlas - C13orf31 - - - HGNC - 26789 - - - OMIM - 613409 - - - SwissProt - Q8IV20 - - - ClinVar - C13orf31 - - - - - 13q14.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85408 - Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis - - Disease - - - Disorder - - - - 23603761[PMID] - - protein tyrosine phosphatase non-receptor type 22 - PTPN22 - - Lyp - Lyp1 - Lyp2 - - - gene with protein product - - - - Ensembl - ENSG00000134242 - - - Genatlas - PTPN22 - - - HGNC - 9652 - - - OMIM - 600716 - - - SwissProt - Q9Y2R2 - - - IUPHAR - 3084 - - - Reactome - Q9Y2R2 - - - ClinVar - PTPN22 - - - - - 1p13.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23603761[PMID] - - signal transducer and activator of transcription 4 - STAT4 - - - - gene with protein product - - - - Ensembl - ENSG00000138378 - - - Genatlas - STAT4 - - - HGNC - 11365 - - - OMIM - 600558 - - - SwissProt - Q14765 - - - Reactome - Q14765 - - - ClinVar - STAT4 - - - - - 2q32.2-q32.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22294642[PMID] - - interleukin 2 receptor subunit alpha - IL2RA - - CD25 - - - gene with protein product - - - - Ensembl - ENSG00000134460 - - - Genatlas - IL2RA - - - HGNC - 6008 - - - OMIM - 147730 - - - Reactome - P01589 - - - SwissProt - P01589 - - - IUPHAR - 1695 - - - ClinVar - IL2RA - - - - - 10p15.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22294642[PMID] - - CD247 molecule - CD247 - - T-cell surface glycoprotein CD3 zeta chain - CD3H - CD3Q - TCRZ - CD3-ZETA - CD3ZETA - - - gene with protein product - - - - IUPHAR - 3142 - - - Ensembl - ENSG00000198821 - - - Genatlas - CD247 - - - HGNC - 1677 - - - OMIM - 186780 - - - Reactome - P20963 - - - SwissProt - P20963 - - - ClinVar - CD247 - - - - - 1q24.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22294642[PMID] - - protein tyrosine phosphatase non-receptor type 2 - PTPN2 - - TC48 - TC45 - TC-PTP - TCELLPTP - TCPTP - - - gene with protein product - - - - ClinVar - PTPN2 - - - Ensembl - ENSG00000175354 - - - Genatlas - PTPN2 - - - HGNC - 9650 - - - OMIM - 176887 - - - Reactome - P17706 - - - SwissProt - P17706 - - - IUPHAR - 3255 - - - - - 18p11.21 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23603761[PMID] - - ankyrin repeat domain 55 - ANKRD55 - - FLJ11795 - - - gene with protein product - - - - ClinVar - ANKRD55 - - - Reactome - Q3KP44 - - - Ensembl - ENSG00000164512 - - - Genatlas - ANKRD55 - - - HGNC - 25681 - - - OMIM - 615189 - - - SwissProt - Q3KP44 - - - - - 5q11.2 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - 23603761[PMID] - - interleukin 2 receptor subunit beta - IL2RB - - CD122 - - - gene with protein product - - - - ClinVar - IL2RB - - - IUPHAR - 1696 - - - Ensembl - ENSG00000100385 - - - Genatlas - IL2RB - - - HGNC - 6009 - - - OMIM - 146710 - - - Reactome - P14784 - - - SwissProt - P14784 - - - - - 22q12.3 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - 85442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85442 - Short stature-pituitary and cerebellar defects-small sella turcica syndrome - - Disease - - - Disorder - - - - 11567216[PMID] - - LIM homeobox 4 - LHX4 - - Gsh4 - - - gene with protein product - - - - Reactome - Q969G2 - - - ClinVar - LHX4 - - - Ensembl - ENSG00000121454 - - - Genatlas - LHX4 - - - HGNC - 21734 - - - OMIM - 602146 - - - SwissProt - Q969G2 - - - - - 1q25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85445 - AA amyloidosis - - Disease - - - Disorder - - - - 16118480[PMID]_16874691[PMID]_16219644[PMID]_18369528[PMID] - - serum amyloid A1 - SAA1 - - PIG4 - TP53I4 - - - gene with protein product - - - - ClinVar - SAA1 - - - Ensembl - ENSG00000173432 - - - Genatlas - SAA1 - - - HGNC - 10513 - - - OMIM - 104750 - - - Reactome - P0DJI8 - - - SwissProt - P0DJI8 - - - - - 11p15.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 85453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85453 - X-linked reticulate pigmentary disorder - - Disease - - - Disorder - - - - 27019227[PMID] - - DNA polymerase alpha 1, catalytic subunit - POLA1 - - p180 - - - gene with protein product - - - - ClinVar - POLA1 - - - HGNC - 9173 - - - OMIM - 312040 - - - Genatlas - POLA1 - - - SwissProt - P09884 - - - Reactome - P09884 - - - Ensembl - ENSG00000101868 - - - - - Xp22.11-p21.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 86788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86788 - X-linked severe congenital neutropenia - - Disease - - - Disorder - - - - 11242115[PMID] - - WASP actin nucleation promoting factor - WAS - - WASP - WASPA - eczema-thrombocytopenia - - - gene with protein product - - - - ClinVar - WAS - - - Ensembl - ENSG00000015285 - - - Genatlas - WAS - - - HGNC - 12731 - - - OMIM - 300392 - - - Reactome - P42768 - - - SwissProt - P42768 - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 86309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86309 - DPAGT1-CDG - - Disease - - - Disorder - - - - 20301507[PMID] - - dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 - DPAGT1 - - ALG7 - CDG-Ij - D11S366 - DGPT - GPT - GlcNAc-1-P transferase 1 - UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 - - - gene with protein product - - - - ClinVar - DPAGT1 - - - Genatlas - DPAGT1 - - - HGNC - 2995 - - - OMIM - 191350 - - - Reactome - Q9H3H5 - - - SwissProt - Q9H3H5 - - - Ensembl - ENSG00000172269 - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 85448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85448 - AGel amyloidosis - - Disease - - - Disorder - - - - 16258946[PMID]_22068858[PMID]_22622774[PMID] - - gelsolin - GSN - - DKFZp313L0718 - amyloidosis, Finnish type - - - gene with protein product - - - - ClinVar - GSN - - - Ensembl - ENSG00000148180 - - - Genatlas - GSN - - - HGNC - 4620 - - - OMIM - 137350 - - - Reactome - P06396 - - - SwissProt - P06396 - - - - - 9q33.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85447 - ATTRV30M amyloidosis - - Clinical subtype - - - Subtype of disorder - - - - 18925456[PMID] - - transthyretin - TTR - - CTS - HsT2651 - - - gene with protein product - - - - IUPHAR - 2851 - - - Ensembl - ENSG00000118271 - - - Genatlas - TTR - - - HGNC - 12405 - - - OMIM - 176300 - - - Reactome - P02766 - - - SwissProt - P02766 - - - ClinVar - TTR - - - - - 18q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85451 - ATTRV122I amyloidosis - - Clinical subtype - - - Subtype of disorder - - - - 11752443[PMID]_25551524[PMID] - - transthyretin - TTR - - CTS - HsT2651 - - - gene with protein product - - - - IUPHAR - 2851 - - - Ensembl - ENSG00000118271 - - - Genatlas - TTR - - - HGNC - 12405 - - - OMIM - 176300 - - - Reactome - P02766 - - - SwissProt - P02766 - - - ClinVar - TTR - - - - - 18q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 86812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86812 - POMT1-related limb-girdle muscular dystrophy R11 - - Disease - - - Disorder - - - - 20301582[PMID] - - protein O-mannosyltransferase 1 - POMT1 - - LGMD2K - dolichyl-phosphate-mannose-protein mannosyltransferase - - - gene with protein product - - - - Reactome - Q9Y6A1 - - - ClinVar - POMT1 - - - Ensembl - ENSG00000130714 - - - Genatlas - POMT1 - - - HGNC - 9202 - - - OMIM - 607423 - - - SwissProt - Q9Y6A1 - - - - - 9q34.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 86813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86813 - Helicoid peripapillary chorioretinal degeneration - - Disease - - - Disorder - - - - 15016762[PMID] - - TEA domain transcription factor 1 - TEAD1 - - TEF-1 - transcriptional enhancer factor 1 - - - gene with protein product - - - - Ensembl - ENSG00000187079 - - - Genatlas - TEAD1 - - - HGNC - 11714 - - - OMIM - 189967 - - - Reactome - P28347 - - - SwissProt - P28347 - - - IUPHAR - 3240 - - - ClinVar - TEAD1 - - - - - 11p15.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 86814 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86814 - Familial adult myoclonic epilepsy - - Disease - - - Disorder - - - - 29939203[PMID] - - sterile alpha motif domain containing 12 - SAMD12 - - FLJ39458 - - - gene with protein product - - - - HGNC - 31750 - - - Ensembl - ENSG00000177570 - - - SwissProt - Q8N8I0 - - - OMIM - 618073 - - - - - 8q24.11-q24.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31539032[PMID] - - YEATS domain containing 2 - YEATS2 - - FLJ10201 - FLJ12841 - FLJ13308 - KIAA1197 - - - gene with protein product - - - - HGNC - 25489 - - - Ensembl - ENSG00000163872 - - - SwissProt - Q9ULM3 - - - Reactome - Q9ULM3 - - - OMIM - 613373 - - - - - 3q27.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29127138[PMID] - - catenin delta 2 - CTNND2 - - GT24 - NPRAP - neural plakophilin-related arm-repeat protein - neurojungin - - - gene with protein product - - - - Ensembl - ENSG00000169862 - - - Genatlas - CTNND2 - - - HGNC - 2516 - - - OMIM - 604275 - - - SwissProt - Q9UQB3 - - - ClinVar - CTNND2 - - - - - 5p15.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23518707[PMID] - - contactin 2 - CNTN2 - - TAG-1 - TAX1 - - - gene with protein product - - - - ClinVar - CNTN2 - - - Ensembl - ENSG00000184144 - - - Genatlas - CNTN2 - - - HGNC - 2172 - - - OMIM - 190197 - - - Reactome - Q02246 - - - SwissProt - Q02246 - - - - - 1q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24114805[PMID] - - adrenoceptor alpha 2B - ADRA2B - - ADRARL1 - - - gene with protein product - - - - ClinVar - ADRA2B - - - Ensembl - ENSG00000274286 - - - Genatlas - ADRA2B - - - HGNC - 282 - - - IUPHAR - 26 - - - OMIM - 104260 - - - Reactome - P18089 - - - SwissProt - P18089 - - - - - 2q11.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 31664039[PMID] - - membrane associated ring-CH-type finger 6 - MARCHF6 - - TEB4 - MARCH-VI - RNF176 - E3 ubiquitin-protein ligase MARCHF6 - ring finger protein 176 - - - gene with protein product - - - - HGNC - 30550 - - - Ensembl - ENSG00000145495 - - - SwissProt - O60337 - - - Reactome - O60337 - - - OMIM - 613297 - - - - - 5p15.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 86815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86815 - Aplasia of lacrimal and salivary glands - - Disease - - - Disorder - - - - 17213838[PMID] - - fibroblast growth factor 10 - FGF10 - - - - gene with protein product - - - - Ensembl - ENSG00000070193 - - - Genatlas - FGF10 - - - HGNC - 3666 - - - OMIM - 602115 - - - Reactome - O15520 - - - SwissProt - O15520 - - - ClinVar - FGF10 - - - - - 5p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 86820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86820 - Familial avascular necrosis of femoral head - - Disease - - - Disorder - - - - 27330106[PMID] - - transient receptor potential cation channel subfamily V member 4 - TRPV4 - - CMT2C - OTRPC4 - TRP12 - VR-OAC - VRL-2 - VROAC - osmosensitive transient receptor potential channel 4 - - - gene with protein product - - - - Ensembl - ENSG00000111199 - - - Genatlas - TRPV4 - - - HGNC - 18083 - - - IUPHAR - 510 - - - OMIM - 605427 - - - Reactome - Q9HBA0 - - - SwissProt - Q9HBA0 - - - ClinVar - TRPV4 - - - - - 12q24.11 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 15930420[PMID] - - collagen type II alpha 1 chain - COL2A1 - - STL1 - - - gene with protein product - - - - ClinVar - COL2A1 - - - Ensembl - ENSG00000139219 - - - Genatlas - COL2A1 - - - HGNC - 2200 - - - OMIM - 120140 - - - Reactome - P02458 - - - SwissProt - P02458 - - - - - 12q13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 86816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86816 - Congenital analbuminemia - - Disease - - - Disorder - - - - 7937781[PMID]_15996651[PMID] - - albumin - ALB - - - - gene with protein product - - - - Ensembl - ENSG00000163631 - - - Genatlas - ALB - - - HGNC - 399 - - - OMIM - 103600 - - - Reactome - P02768 - - - SwissProt - P02768 - - - ClinVar - ALB - - - - - 4q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 512017 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512017 - Chronic lymphoproliferative disorder of natural killer cells - - Disease - - - Disorder - - - - 29385279[PMID] - - signal transducer and activator of transcription 3 - STAT3 - - APRF - - - gene with protein product - - - - Ensembl - ENSG00000168610 - - - Genatlas - STAT3 - - - HGNC - 11364 - - - OMIM - 102582 - - - Reactome - P40763 - - - SwissProt - P40763 - - - IUPHAR - 2994 - - - ClinVar - STAT3 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 86817 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86817 - Hemolytic anemia due to adenylate kinase deficiency - - Disease - - - Disorder - - - - 9432020[PMID]_10233365[PMID] - - adenylate kinase 1 - AK1 - - ADK - Adk1 - - - gene with protein product - - - - Ensembl - ENSG00000106992 - - - Genatlas - AK1 - - - HGNC - 361 - - - OMIM - 103000 - - - Reactome - P00568 - - - SwissProt - P00568 - - - ClinVar - AK1 - - - - - 9q34.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 86818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86818 - Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome - - Disease - - - Disorder - - - - 12011158[PMID] - - potassium voltage-gated channel subfamily E regulatory subunit 5 - KCNE5 - - - - gene with protein product - - - - Ensembl - ENSG00000176076 - - - Genatlas - KCNE1L - - - HGNC - 6241 - - - OMIM - 300328 - - - Reactome - Q9UJ90 - - - SwissProt - Q9UJ90 - - - ClinVar - KCNE1L - - - - - Xq23 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 11889465[PMID]_9598718[PMID] - - acyl-CoA synthetase long chain family member 4 - ACSL4 - - ACS4 - LACS4 - lignoceroyl-CoA synthase - long-chain fatty-acid-Coenzyme A ligase 4 - - - gene with protein product - - - - ClinVar - ACSL4 - - - Ensembl - ENSG00000068366 - - - Genatlas - ACSL4 - - - HGNC - 3571 - - - OMIM - 300157 - - - Reactome - O60488 - - - SwissProt - O60488 - - - - - Xq23 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 10049589[PMID]_27811305[PMID] - - AMMECR nuclear protein 1 - AMMECR1 - - - - gene with protein product - - - - ClinVar - AMMECR1 - - - Ensembl - ENSG00000101935 - - - Genatlas - AMMECR1 - - - HGNC - 467 - - - OMIM - 300195 - - - SwissProt - Q9Y4X0 - - - Reactome - Q9Y4X0 - - - - - Xq23 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 86819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86819 - Atrichia with papular lesions - - Disease - - - Disorder - - - - 18709303[PMID] - - HR lysine demethylase and nuclear receptor corepressor - HR - - AU - - - gene with protein product - - - - Reactome - O43593 - - - Ensembl - ENSG00000168453 - - - Genatlas - HR - - - HGNC - 5172 - - - OMIM - 602302 - - - SwissProt - O43593 - - - ClinVar - HR - - - - - 8p21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 86841 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86841 - Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality - - Disease - - - Disorder - - - - 22571696[PMID] - - ribosomal protein S14 - RPS14 - - 40S ribosomal protein S14 - EMTB - S14 - emetine resistance - uS11 - - - gene with protein product - - - - ClinVar - RPS14 - - - Genatlas - RPS14 - - - HGNC - 10387 - - - OMIM - 130620 - - - Reactome - P62263 - - - SwissProt - P62263 - - - Ensembl - ENSG00000164587 - - - - - 5q33.1 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 512103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512103 - Autosomal recessive epidermolytic ichthyosis - - Disease - - - Disorder - - - - 21271994[PMID]_23957016[PMID] - - keratin 10 - KRT10 - - CK10 - K10 - cytokeratin 10 - epidermolytic hyperkeratosis - - - gene with protein product - - - - Ensembl - ENSG00000186395 - - - Genatlas - KRT10 - - - HGNC - 6413 - - - OMIM - 148080 - - - SwissProt - P13645 - - - Reactome - P13645 - - - ClinVar - KRT10 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 86834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86834 - Juvenile myelomonocytic leukemia - - Disease - - - Disorder - - - - 24705357[PMID] - - RAS related - RRAS - - R-Ras - Oncogene RRAS - RRAS1 - - - gene with protein product - - - - SwissProt - P10301 - - - Reactome - P10301 - - - Ensembl - ENSG00000126458 - - - ClinVar - RRAS - - - HGNC - 10447 - - - Genatlas - RRAS - - - OMIM - 165090 - - - - - 19q13.33 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 19571318[PMID]_21930766[PMID]_20139388[PMID]_23832011[PMID] - - protein tyrosine phosphatase non-receptor type 11 - PTPN11 - - BPTP3 - PTP2C - SH-PTP2 - SHP-2 - SHP2 - SH2 domain-containing protein tyrosine phosphatase 2 - - - gene with protein product - - - - ClinVar - PTPN11 - - - Ensembl - ENSG00000179295 - - - Genatlas - PTPN11 - - - HGNC - 9644 - - - OMIM - 176876 - - - Reactome - Q06124 - - - SwissProt - Q06124 - - - IUPHAR - 3203 - - - - - 12q24.13 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 20139388[PMID]_23832011[PMID] - - KRAS proto-oncogene, GTPase - KRAS - - KRAS1 - K-Ras4B - - - gene with protein product - - - - IUPHAR - 2824 - - - ClinVar - KRAS - - - Ensembl - ENSG00000133703 - - - Genatlas - KRAS - - - HGNC - 6407 - - - OMIM - 190070 - - - Reactome - P01116 - - - SwissProt - P01116 - - - - - 12p12.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 19571318[PMID]_20139388[PMID]_23832011[PMID] - - neurofibromin 1 - NF1 - - Watson disease - neurofibromatosis - von Recklinghausen disease - - - gene with protein product - - - - Ensembl - ENSG00000196712 - - - Genatlas - NF1 - - - HGNC - 7765 - - - OMIM - 613113 - - - ClinVar - NF1 - - - Reactome - P21359 - - - SwissProt - P21359 - - - - - 17q11.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 20139388[PMID]_22753870[PMID]_23832011[PMID] - - NRAS proto-oncogene, GTPase - NRAS - - N-ras - - - gene with protein product - - - - HGNC - 7989 - - - OMIM - 164790 - - - Reactome - P01111 - - - SwissProt - P01111 - - - Ensembl - ENSG00000213281 - - - Genatlas - NRAS - - - ClinVar - NRAS - - - IUPHAR - 2823 - - - - - 1p13.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 23832011[PMID] - - Cbl proto-oncogene - CBL - - RNF55 - c-Cbl - oncogene CBL2 - - - gene with protein product - - - - Ensembl - ENSG00000110395 - - - Genatlas - CBL - - - HGNC - 1541 - - - OMIM - 165360 - - - Reactome - P22681 - - - SwissProt - P22681 - - - ClinVar - CBL - - - - - 11q23.3 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - 86830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86830 - Chronic myeloproliferative disease, unclassifiable - - Disease - - - Disorder - - - - 17296564[PMID] - - platelet derived growth factor receptor beta - PDGFRB - - CD140b - JTK12 - PDGFR1 - - - gene with protein product - - - - ClinVar - PDGFRB - - - Ensembl - ENSG00000113721 - - - Genatlas - PDGFRB - - - HGNC - 8804 - - - IUPHAR - 1804 - - - OMIM - 173410 - - - Reactome - P09619 - - - SwissProt - P09619 - - - - - 5q32 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 86829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86829 - Chronic neutrophilic leukemia - - Disease - - - Disorder - - - - 23656643[PMID] - - colony stimulating factor 3 receptor - CSF3R - - G-CSF-R - GCSFR - granulocyte colony-stimulating factor receptor - - - gene with protein product - - - - Reactome - Q99062 - - - Ensembl - ENSG00000119535 - - - Genatlas - CSF3R - - - HGNC - 2439 - - - IUPHAR - 1719 - - - OMIM - 138971 - - - SwissProt - Q99062 - - - ClinVar - CSF3R - - - - - 1p34.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 512260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512260 - Congenital cerebellar ataxia due to RNU12 mutation - - Disease - - - Disorder - - - - 27863452[PMID] - - RNA, U12 small nuclear - RNU12 - - RNA, U12 small nuclear 1 - RNU12-1 - - - Non-coding RNA - - - - HGNC - 19380 - - - Ensembl - ENSG00000276027 - - - OMIM - 620204 - - - SwissProt - - - - - - 22q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 86849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86849 - Acute basophilic leukemia - - Disease - - - Disorder - - - - 21474671[PMID] - - MYB proto-oncogene, transcription factor - MYB - - c-myb - - - gene with protein product - - - - Ensembl - ENSG00000118513 - - - Genatlas - MYB - - - HGNC - 7545 - - - OMIM - 189990 - - - Reactome - P10242 - - - SwissProt - P10242 - - - ClinVar - MYB - - - - - 6q23.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 21474671[PMID] - - GATA binding protein 1 - GATA1 - - ERYF1 - GATA-1 - NF-E1 - NFE1 - nuclear factor, erythroid 1 - - - gene with protein product - - - - ClinVar - GATA1 - - - Ensembl - ENSG00000102145 - - - Genatlas - GATA1 - - - HGNC - 4170 - - - OMIM - 305371 - - - Reactome - P15976 - - - SwissProt - P15976 - - - - - Xp11.23 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 86845 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86845 - Acute myeloid leukaemia with myelodysplasia-related features - - Disease - - - Disorder - - - - 19557078[PMID] - - tet methylcytosine dioxygenase 2 - TET2 - - FLJ20032 - ten-eleven translocation 2 - - - gene with protein product - - - - ClinVar - TET2 - - - Ensembl - ENSG00000168769 - - - Genatlas - TET2 - - - HGNC - 25941 - - - OMIM - 612839 - - - Reactome - Q6N021 - - - SwissProt - Q6N021 - - - - - 4q24 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Not yet assessed - - - - 28297624[PMID] - - isocitrate dehydrogenase (NADP(+)) 1 - IDH1 - - - - gene with protein product - - - - IUPHAR - 2884 - - - Ensembl - ENSG00000138413 - - - Genatlas - IDH1 - - - HGNC - 5382 - - - OMIM - 147700 - - - Reactome - O75874 - - - SwissProt - O75874 - - - ClinVar - IDH1 - - - - - 2q34 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 28297624[PMID] - - isocitrate dehydrogenase (NADP(+)) 2 - IDH2 - - IDH-2 - - - gene with protein product - - - - Ensembl - ENSG00000182054 - - - Genatlas - IDH2 - - - HGNC - 5383 - - - OMIM - 147650 - - - Reactome - P48735 - - - SwissProt - P48735 - - - IUPHAR - 2885 - - - ClinVar - IDH2 - - - - - 15q26.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 28297624[PMID] - - ASXL transcriptional regulator 1 - ASXL1 - - KIAA0978 - - - gene with protein product - - - - Reactome - Q8IXJ9 - - - Ensembl - ENSG00000171456 - - - Genatlas - ASXL1 - - - HGNC - 18318 - - - OMIM - 612990 - - - SwissProt - Q8IXJ9 - - - ClinVar - ASXL1 - - - - - 20q11.21 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 28297624[PMID] - - DNA methyltransferase 3 alpha - DNMT3A - - - - gene with protein product - - - - ClinVar - DNMT3A - - - Ensembl - ENSG00000119772 - - - Genatlas - DNMT3A - - - HGNC - 2978 - - - IUPHAR - 2750 - - - OMIM - 602769 - - - Reactome - Q9Y6K1 - - - SwissProt - Q9Y6K1 - - - - - 2p23.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 86872 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86872 - T-cell large granular lymphocyte leukemia - - Disease - - - Disorder - - - - 29385279[PMID]_26980727[PMID] - - signal transducer and activator of transcription 3 - STAT3 - - APRF - - - gene with protein product - - - - Ensembl - ENSG00000168610 - - - Genatlas - STAT3 - - - HGNC - 11364 - - - OMIM - 102582 - - - Reactome - P40763 - - - SwissProt - P40763 - - - IUPHAR - 2994 - - - ClinVar - STAT3 - - - - - 17q21.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 86884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86884 - Subcutaneous panniculitis-like T-cell lymphoma - - Disease - - - Disorder - - - - 30374066[PMID] - - hepatitis A virus cellular receptor 2 - HAVCR2 - - Tim-3 - TIM3 - FLJ14428 - TIMD3 - CD366 - T-cell immunoglobulin mucin family member 3 - - - gene with protein product - - - - Ensembl - ENSG00000135077 - - - SwissProt - Q8TDQ0 - - - Reactome - Q8TDQ0 - - - IUPHAR - 2940 - - - OMIM - 606652 - - - HGNC - 18437 - - - - - 5q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79503 - Ichthyosis hystrix of Curth-Macklin - - Disease - - - Disorder - - - - - - keratin 1 - KRT1 - - KRT1A - - - gene with protein product - - - - Ensembl - ENSG00000167768 - - - Genatlas - KRT1 - - - HGNC - 6412 - - - OMIM - 139350 - - - SwissProt - P04264 - - - ClinVar - KRT1 - - - Reactome - P04264 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79495 - X-linked congenital generalized hypertrichosis - - Clinical subtype - - - Subtype of disorder - - - - 21636067[PMID] - - SRY-box transcription factor 3 - SOX3 - - - - gene with protein product - - - - ClinVar - SOX3 - - - Ensembl - ENSG00000134595 - - - Genatlas - SOX3 - - - HGNC - 11199 - - - OMIM - 313430 - - - Reactome - P41225 - - - SwissProt - P41225 - - - - - Xq27.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79499 - Autosomal dominant deafness-onychodystrophy syndrome - - Malformation syndrome - - - Disorder - - - - 24913193[PMID] - - ATPase H+ transporting V1 subunit B2 - ATP6V1B2 - - HO57 - VATB - Vma2 - V-ATPase subunit B2 - - - gene with protein product - - - - Ensembl - ENSG00000147416 - - - Genatlas - ATP6V1B2 - - - HGNC - 854 - - - OMIM - 606939 - - - Reactome - P21281 - - - SwissProt - P21281 - - - IUPHAR - 812 - - - ClinVar - ATP6V1B2 - - - - - 8p21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79500 - DOORS syndrome - - Malformation syndrome - - - Disorder - - - - 32873933[PMID] - - ATPase H+ transporting V1 subunit B2 - ATP6V1B2 - - HO57 - VATB - Vma2 - V-ATPase subunit B2 - - - gene with protein product - - - - Ensembl - ENSG00000147416 - - - Genatlas - ATP6V1B2 - - - HGNC - 854 - - - OMIM - 606939 - - - Reactome - P21281 - - - SwissProt - P21281 - - - IUPHAR - 812 - - - ClinVar - ATP6V1B2 - - - - - 8p21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24291220[PMID] - - TBC1 domain family member 24 - TBC1D24 - - DFNA65 - KIAA1171 - TBC/LysM-associated domain containing 6 - TLDC6 - skywalker homolog (Drosophila) - deafness, autosomal dominant 65 - - - gene with protein product - - - - ClinVar - TBC1D24 - - - Reactome - Q9ULP9 - - - Ensembl - ENSG00000162065 - - - Genatlas - TBC1D24 - - - HGNC - 29203 - - - OMIM - 613577 - - - SwissProt - Q9ULP9 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79501 - Punctate palmoplantar keratoderma type 1 - - Disease - - - Disorder - - - - 22972947[PMID] - - collagen type XIV alpha 1 chain - COL14A1 - - - - gene with protein product - - - - Ensembl - ENSG00000187955 - - - Genatlas - COL14A1 - - - HGNC - 2191 - - - OMIM - 120324 - - - Reactome - Q05707 - - - SwissProt - Q05707 - - - ClinVar - COL14A1 - - - - - 8q24.12 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 23000146[PMID]_23064416[PMID] - - alpha and gamma adaptin binding protein - AAGAB - - FLJ11506 - p34 - - - gene with protein product - - - - Ensembl - ENSG00000103591 - - - Genatlas - AAGAB - - - HGNC - 25662 - - - OMIM - 614888 - - - SwissProt - Q6PD74 - - - ClinVar - AAGAB - - - - - 15q23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79643 - Autosomal recessive hyperinsulinism due to SUR1 deficiency - - Disease - - - Disorder - - - - 15562009[PMID]_25733449[PMID] - - ATP binding cassette subfamily C member 8 - ABCC8 - - ABC36 - HHF1 - HI - MRP8 - PHHI - SUR1 - TNDM2 - sulfonylurea receptor (hyperinsulinemia) - - - gene with protein product - - - - ClinVar - ABCC8 - - - Ensembl - ENSG00000006071 - - - Genatlas - ABCC8 - - - HGNC - 59 - - - IUPHAR - 2594 - - - OMIM - 600509 - - - Reactome - Q09428 - - - SwissProt - Q09428 - - - - - 11p15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 79651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79651 - Mild hyperphenylalaninemia - - Clinical subtype - - - Subtype of disorder - - - - 20301677[PMID] - - phenylalanine hydroxylase - PAH - - PH - phenylalanine 4-monooxygenase - - - gene with protein product - - - - Ensembl - ENSG00000171759 - - - Genatlas - PAH - - - HGNC - 8582 - - - IUPHAR - 1240 - - - OMIM - 612349 - - - Reactome - P00439 - - - SwissProt - P00439 - - - ClinVar - PAH - - - - - 12q23.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 79644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79644 - Autosomal recessive hyperinsulinism due to Kir6.2 deficiency - - Disease - - - Disorder - - - - 8923010[PMID]_25733449[PMID] - - potassium inwardly rectifying channel subfamily J member 11 - KCNJ11 - - ATP-sensitive inward rectifier potassium channel 11 - BIR - Kir6.2 - beta-cell inward rectifier - - - gene with protein product - - - - Ensembl - ENSG00000187486 - - - Genatlas - KCNJ11 - - - HGNC - 6257 - - - IUPHAR - 442 - - - OMIM - 600937 - - - Reactome - Q14654 - - - SwissProt - Q14654 - - - ClinVar - KCNJ11 - - - - - 11p15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 83330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83330 - Proximal spinal muscular atrophy type 1 - - Clinical subtype - - - Subtype of disorder - - - - 20301526[PMID] - - survival of motor neuron 2, centromeric - SMN2 - - BCD541 - GEMIN1 - SMNC - TDRD16B - tudor domain containing 16B - - - gene with protein product - - - - Ensembl - ENSG00000205571 - - - Genatlas - SMN2 - - - HGNC - 11118 - - - OMIM - 601627 - - - Reactome - Q16637 - - - SwissProt - Q16637 - - - ClinVar - SMN2 - - - - - 5q13.2 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 11912351[PMID] - - NLR family apoptosis inhibitory protein - NAIP - - NLR family, BIR domain containing 1 - NLRB1 - nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1 - - - gene with protein product - - - - Ensembl - ENSG00000249437 - - - Genatlas - NAIP - - - HGNC - 7634 - - - OMIM - 600355 - - - SwissProt - Q13075 - - - IUPHAR - 2793 - - - ClinVar - NAIP - - - - - 5q13.2 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 20301526[PMID] - - survival of motor neuron 1, telomeric - SMN1 - - BCD541 - GEMIN1 - SMA1 - SMA2 - SMA3 - SMNT - TDRD16A - gemin-1 - tudor domain containing 16A - - - gene with protein product - - - - Ensembl - ENSG00000172062 - - - Genatlas - SMN1 - - - HGNC - 11117 - - - OMIM - 600354 - - - Reactome - Q16637 - - - SwissProt - Q16637 - - - ClinVar - SMN1 - - - - - 5q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 83419 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83419 - Proximal spinal muscular atrophy type 3 - - Clinical subtype - - - Subtype of disorder - - - - 20301526[PMID] - - survival of motor neuron 2, centromeric - SMN2 - - BCD541 - GEMIN1 - SMNC - TDRD16B - tudor domain containing 16B - - - gene with protein product - - - - Ensembl - ENSG00000205571 - - - Genatlas - SMN2 - - - HGNC - 11118 - - - OMIM - 601627 - - - Reactome - Q16637 - - - SwissProt - Q16637 - - - ClinVar - SMN2 - - - - - 5q13.2 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 11912351[PMID] - - NLR family apoptosis inhibitory protein - NAIP - - NLR family, BIR domain containing 1 - NLRB1 - nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1 - - - gene with protein product - - - - Ensembl - ENSG00000249437 - - - Genatlas - NAIP - - - HGNC - 7634 - - - OMIM - 600355 - - - SwissProt - Q13075 - - - IUPHAR - 2793 - - - ClinVar - NAIP - - - - - 5q13.2 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 20301526[PMID] - - survival of motor neuron 1, telomeric - SMN1 - - BCD541 - GEMIN1 - SMA1 - SMA2 - SMA3 - SMNT - TDRD16A - gemin-1 - tudor domain containing 16A - - - gene with protein product - - - - Ensembl - ENSG00000172062 - - - Genatlas - SMN1 - - - HGNC - 11117 - - - OMIM - 600354 - - - Reactome - Q16637 - - - SwissProt - Q16637 - - - ClinVar - SMN1 - - - - - 5q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 83420 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83420 - Proximal spinal muscular atrophy type 4 - - Clinical subtype - - - Subtype of disorder - - - - 20301526[PMID] - - survival of motor neuron 2, centromeric - SMN2 - - BCD541 - GEMIN1 - SMNC - TDRD16B - tudor domain containing 16B - - - gene with protein product - - - - Ensembl - ENSG00000205571 - - - Genatlas - SMN2 - - - HGNC - 11118 - - - OMIM - 601627 - - - Reactome - Q16637 - - - SwissProt - Q16637 - - - ClinVar - SMN2 - - - - - 5q13.2 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 20301526[PMID] - - survival of motor neuron 1, telomeric - SMN1 - - BCD541 - GEMIN1 - SMA1 - SMA2 - SMA3 - SMNT - TDRD16A - gemin-1 - tudor domain containing 16A - - - gene with protein product - - - - Ensembl - ENSG00000172062 - - - Genatlas - SMN1 - - - HGNC - 11117 - - - OMIM - 600354 - - - Reactome - Q16637 - - - SwissProt - Q16637 - - - ClinVar - SMN1 - - - - - 5q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 83418 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83418 - Proximal spinal muscular atrophy type 2 - - Clinical subtype - - - Subtype of disorder - - - - 20301526[PMID] - - survival of motor neuron 2, centromeric - SMN2 - - BCD541 - GEMIN1 - SMNC - TDRD16B - tudor domain containing 16B - - - gene with protein product - - - - Ensembl - ENSG00000205571 - - - Genatlas - SMN2 - - - HGNC - 11118 - - - OMIM - 601627 - - - Reactome - Q16637 - - - SwissProt - Q16637 - - - ClinVar - SMN2 - - - - - 5q13.2 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 11912351[PMID] - - NLR family apoptosis inhibitory protein - NAIP - - NLR family, BIR domain containing 1 - NLRB1 - nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1 - - - gene with protein product - - - - Ensembl - ENSG00000249437 - - - Genatlas - NAIP - - - HGNC - 7634 - - - OMIM - 600355 - - - SwissProt - Q13075 - - - IUPHAR - 2793 - - - ClinVar - NAIP - - - - - 5q13.2 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 20301526[PMID] - - survival of motor neuron 1, telomeric - SMN1 - - BCD541 - GEMIN1 - SMA1 - SMA2 - SMA3 - SMNT - TDRD16A - gemin-1 - tudor domain containing 16A - - - gene with protein product - - - - Ensembl - ENSG00000172062 - - - Genatlas - SMN1 - - - HGNC - 11117 - - - OMIM - 600354 - - - Reactome - Q16637 - - - SwissProt - Q16637 - - - ClinVar - SMN1 - - - - - 5q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 83469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83469 - Desmoplastic small round cell tumor - - Disease - - - Disorder - - - - - - WT1 transcription factor - WT1 - - AWT1 - NPHS4 - WAGR - WIT-2 - WT-1 - - - gene with protein product - - - - ClinVar - WT1 - - - Ensembl - ENSG00000184937 - - - Genatlas - WT1 - - - HGNC - 12796 - - - OMIM - 607102 - - - SwissProt - P19544 - - - Reactome - P19544 - - - - - 11p13 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - EWS RNA binding protein 1 - EWSR1 - - EWS - - - gene with protein product - - - - Reactome - Q01844 - - - Ensembl - ENSG00000182944 - - - Genatlas - EWSR1 - - - HGNC - 3508 - - - OMIM - 133450 - - - SwissProt - Q01844 - - - ClinVar - EWSR1 - - - - - 22q12.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 83465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83465 - Narcolepsy type 2 - - Disease - - - Disorder - - - - 10973318[PMID]_23643651[PMID] - - hypocretin neuropeptide precursor - HCRT - - OX - PPOX - prepro-orexin - orexin - - - gene with protein product - - - - ClinVar - HCRT - - - SwissProt - O43612 - - - Ensembl - ENSG00000161610 - - - Genatlas - HCRT - - - HGNC - 4847 - - - OMIM - 602358 - - - Reactome - O43612 - - - - - 17q21.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 18706091[PMID]_19410508[PMID] - - major histocompatibility complex, class II, DR beta 1 - HLA-DRB1 - - - - gene with protein product - - - - ClinVar - HLA-DRB1 - - - Ensembl - ENSG00000196126 - - - Genatlas - HLA-DRB1 - - - HGNC - 4948 - - - OMIM - 142857 - - - Reactome - P04229 - - - SwissProt - P01911 - - - - - 6p21.32 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 18706091[PMID]_21345702[PMID] - - major histocompatibility complex, class II, DQ beta 1 - HLA-DQB1 - - CELIAC1 - IDDM1 - - - gene with protein product - - - - ClinVar - HLA-DQB1 - - - Ensembl - ENSG00000179344 - - - Genatlas - HLA-DQB1 - - - HGNC - 4944 - - - OMIM - 604305 - - - Reactome - P01920 - - - SwissProt - P01920 - - - - - 6p21.32 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 24204295[PMID] - - zinc finger protein 365 - ZNF365 - - KIAA0844 - Talanin - UAN - Su48 - - - gene with protein product - - - - SwissProt - Q70YC5 - - - Genatlas - ZNF365 - - - HGNC - 18194 - - - OMIM - 607818 - - - SwissProt - Q70YC4 - - - Ensembl - ENSG00000138311 - - - ClinVar - ZNF365 - - - - - 10q21.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 83473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83473 - Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome - - Malformation syndrome - - - Disorder - - - - 22729224[PMID] - - phosphoinositide-3-kinase regulatory subunit 2 - PIK3R2 - - p85-BETA - p85beta - P85B - p85 - phosphoinositide-3-kinase regulatory subunit beta - - - gene with protein product - - - - ClinVar - PIK3R2 - - - IUPHAR - 2504 - - - Ensembl - ENSG00000105647 - - - Genatlas - PIK3R2 - - - HGNC - 8980 - - - OMIM - 603157 - - - Reactome - O00459 - - - SwissProt - O00459 - - - - - 19p13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26520804[PMID] - - phosphoinositide-3-kinase regulatory subunit 2 - PIK3R2 - - p85-BETA - p85beta - P85B - p85 - phosphoinositide-3-kinase regulatory subunit beta - - - gene with protein product - - - - ClinVar - PIK3R2 - - - IUPHAR - 2504 - - - Ensembl - ENSG00000105647 - - - Genatlas - PIK3R2 - - - HGNC - 8980 - - - OMIM - 603157 - - - Reactome - O00459 - - - SwissProt - O00459 - - - - - 19p13.11 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 24705253[PMID] - - cyclin D2 - CCND2 - - G1/S-specific cyclin D2 - - - gene with protein product - - - - ClinVar - CCND2 - - - HGNC - 1583 - - - OMIM - 123833 - - - Reactome - P30279 - - - SwissProt - P30279 - - - Ensembl - ENSG00000118971 - - - Genatlas - CCND2 - - - - - 12p13.32 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 22729224[PMID] - - AKT serine/threonine kinase 3 - AKT3 - - PKBG - PRKBG - RAC-gamma - protein kinase B, gamma - - - gene with protein product - - - - Ensembl - ENSG00000117020 - - - Genatlas - AKT3 - - - HGNC - 393 - - - IUPHAR - 2286 - - - OMIM - 611223 - - - Reactome - Q9Y243 - - - SwissProt - Q9Y243 - - - ClinVar - AKT3 - - - - - 1q43-q44 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 83472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83472 - CAMOS syndrome - - Malformation syndrome - - - Disorder - - - - 20531441[PMID]_26123727[PMID] - - zinc finger protein 592 - ZNF592 - - CAMOS - KIAA0211 - - - gene with protein product - - - - Ensembl - ENSG00000166716 - - - Genatlas - ZNF592 - - - HGNC - 28986 - - - OMIM - 613624 - - - SwissProt - Q92610 - - - Reactome - Q92610 - - - ClinVar - ZNF592 - - - - - 15q25.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 26123727[PMID] - - WD repeat domain 73 - WDR73 - - FLJ14888 - HSPC264 - - - gene with protein product - - - - ClinVar - WDR73 - - - Ensembl - ENSG00000177082 - - - Genatlas - WDR73 - - - HGNC - 25928 - - - OMIM - 616144 - - - SwissProt - Q6P4I2 - - - - - 15q25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 83471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83471 - T-cell immunodeficiency with thymic aplasia - - Disease - - - Disorder - - - - 31566583[PMID] - - forkhead box N1 - FOXN1 - - FKHL20 - - - gene with protein product - - - - Reactome - O15353 - - - Ensembl - ENSG00000109101 - - - IUPHAR - 2958 - - - ClinVar - FOXN1 - - - Genatlas - FOXN1 - - - HGNC - 12765 - - - OMIM - 600838 - - - SwissProt - O15353 - - - - - 17q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Not yet assessed - - - - - - 83463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83463 - Microtia - - Morphological anomaly - - - Disorder - - - - 23775976[PMID] - - homeobox A2 - HOXA2 - - - - gene with protein product - - - - Reactome - O43364 - - - SwissProt - O43364 - - - Ensembl - ENSG00000105996 - - - Genatlas - HOXA2 - - - HGNC - 5103 - - - OMIM - 604685 - - - ClinVar - HOXA2 - - - - - 7p15.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 83461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83461 - Congenital primary aphakia - - Malformation syndrome - - - Disorder - - - - 16826526[PMID] - - forkhead box E3 - FOXE3 - - FREAC8 - - - gene with protein product - - - - Ensembl - ENSG00000186790 - - - Genatlas - FOXE3 - - - HGNC - 3808 - - - OMIM - 601094 - - - SwissProt - Q13461 - - - ClinVar - FOXE3 - - - - - 1p33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 83454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83454 - Glomuvenous malformation - - Malformation syndrome - - - Disorder - - - - 11845407[PMID]_22092580[PMID] - - glomulin, FKBP associated protein - GLMN - - FAP48 - FKBPAP - GLML - GVM - FAP68 - - - gene with protein product - - - - ClinVar - GLMN - - - Reactome - Q92990 - - - Ensembl - ENSG00000174842 - - - Genatlas - GLMN - - - HGNC - 14373 - - - OMIM - 601749 - - - SwissProt - Q92990 - - - - - 1p22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 83620 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83620 - Enteric anendocrinosis - - Disease - - - Disorder - - - - 16855267[PMID] - - neurogenin 3 - NEUROG3 - - Atoh5 - Math4B - bHLHa7 - ngn3 - - - gene with protein product - - - - Ensembl - ENSG00000122859 - - - Genatlas - NEUROG3 - - - HGNC - 13806 - - - OMIM - 604882 - - - Reactome - Q9Y4Z2 - - - SwissProt - Q9Y4Z2 - - - ClinVar - NEUROG3 - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 84081 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84081 - Senior-Boichis syndrome - - Disease - - - Disorder - - - - 25557784[PMID] - - doublecortin domain containing 2 - DCDC2 - - DCDC2A - KIAA1154 - NPHP19 - RU2 - nephronophthisis 19 - - - gene with protein product - - - - Ensembl - ENSG00000146038 - - - Genatlas - DCDC2 - - - HGNC - 18141 - - - OMIM - 605755 - - - SwissProt - Q9UHG0 - - - Reactome - Q9UHG0 - - - ClinVar - DCDC2 - - - - - 6p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19508969[PMID] - - transmembrane protein 67 - TMEM67 - - NPHP11 - JBTS6 - MGC26979 - Meckelin - - - gene with protein product - - - - ClinVar - TMEM67 - - - Ensembl - ENSG00000164953 - - - Genatlas - TMEM67 - - - HGNC - 28396 - - - OMIM - 609884 - - - Reactome - Q5HYA8 - - - SwissProt - Q5HYA8 - - - - - 8q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 84090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84090 - Fibronectin glomerulopathy - - Disease - - - Disorder - - - - 18268355[PMID] - - fibronectin 1 - FN1 - - CIG - Cold-insoluble globulin - FINC - GFND2 - LETS - MSF - Migration-stimulating factor - lnc-ABCA12-8 - cold-insoluble globulin - migration-stimulating factor - - - gene with protein product - - - - ClinVar - FN1 - - - Ensembl - ENSG00000115414 - - - Genatlas - FN1 - - - HGNC - 3778 - - - OMIM - 135600 - - - Reactome - P02751 - - - SwissProt - P02751 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 84064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84064 - Syndromic diarrhea - - Disease - - - Disorder - - - - 23302111[PMID]_20176027[PMID] - - SKI3 subunit of superkiller complex - SKIC3 - - THES - thespin - SKI complex component SKI3 (S. cerevisiae) - SKI3 - - - gene with protein product - - - - Reactome - Q6PGP7 - - - Ensembl - ENSG00000198677 - - - Genatlas - TTC37 - - - HGNC - 23639 - - - OMIM - 614589 - - - ClinVar - TTC37 - - - SwissProt - Q6PGP7 - - - - - 5q15 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22444670[PMID]_23302111[PMID] - - SKI2 subunit of superkiller complex - SKIC2 - - 170A - DDX13 - HLP - SKI2W - SKIV2L1 - SKI2 - - - gene with protein product - - - - Ensembl - ENSG00000204351 - - - Genatlas - SKIV2L - - - HGNC - 10898 - - - OMIM - 600478 - - - Reactome - Q15477 - - - SwissProt - Q15477 - - - ClinVar - SKIV2L - - - - - 6p21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 513436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=513436 - Autosomal recessive spastic paraplegia type 78 - - Disease - - - Disorder - - - - 28137957[PMID]_29112700[PMID]_27217339[PMID] - - ATPase cation transporting 13A2 - ATP13A2 - - CLN12 - HSA9947 - - - gene with protein product - - - - IUPHAR - 3156 - - - ClinVar - ATP13A2 - - - Ensembl - ENSG00000159363 - - - Genatlas - ATP13A2 - - - HGNC - 30213 - - - OMIM - 610513 - - - Reactome - Q9NQ11 - - - SwissProt - Q9NQ11 - - - - - 1p36.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 83639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83639 - Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency - - Disease - - - Disorder - - - - 16767100[PMID] - - phosphatidylinositol glycan anchor biosynthesis class M - PIGM - - DPM:GlcN-(acyl-)PI mannosyltransferase - GPI mannosyltransferase 1 - GPI-MT-I - dol-P-Man dependent GPI mannosyltransferase - PIG-M - - - gene with protein product - - - - ClinVar - PIGM - - - Ensembl - ENSG00000143315 - - - Genatlas - PIGM - - - HGNC - 18858 - - - OMIM - 610273 - - - Reactome - Q9H3S5 - - - SwissProt - Q9H3S5 - - - - - 1q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27626616[PMID] - - phosphatidylinositol glycan anchor biosynthesis class W - PIGW - - FLJ37433 - Gwt1 - GPI-anchored wall protein transfer 1 homolog (S. cerevisiae) - PIG-W - - - gene with protein product - - - - Ensembl - ENSG00000277161 - - - Genatlas - PIGW - - - HGNC - 23213 - - - OMIM - 610275 - - - Reactome - Q7Z7B1 - - - SwissProt - Q7Z7B1 - - - ClinVar - PIGW - - - - - 17q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 83629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83629 - Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome - - Disease - - - Disorder - - - - 27102849[PMID] - - apoptosis inducing factor mitochondria associated 1 - AIFM1 - - AIF - CMTX4 - DFNX5 - - - gene with protein product - - - - OMIM - 300169 - - - SwissProt - O95831 - - - Ensembl - ENSG00000156709 - - - Genatlas - AIFM1 - - - HGNC - 8768 - - - Reactome - O95831 - - - ClinVar - AIFM1 - - - - - Xq26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 513456 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=513456 - Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome - - Disease - - - Disorder - - - - 28686853[PMID] - - WD repeat domain 26 - WDR26 - - FLJ21016 - GID complex subunit 7 homolog (S. cerevisiae) - GID7 - - - gene with protein product - - - - Ensembl - ENSG00000162923 - - - SwissProt - Q9H7D7 - - - ClinVar - WDR26 - - - HGNC - 21208 - - - OMIM - 617424 - - - Genatlas - WDR26 - - - Reactome - Q9H7D7 - - - - - 1q42.11-q42.12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 83642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83642 - Microcytic anemia with liver iron overload - - Disease - - - Disorder - - - - 16160008[PMID]_16439678[PMID] - - solute carrier family 11 member 2 - SLC11A2 - - DCT1 - DMT1 - divalent metal transporter 1 - DMT-1 - FLJ37416 - divalent cation transporter 1 - Natural resistance-associated macrophage protein 2 - - - gene with protein product - - - - IUPHAR - 967 - - - ClinVar - SLC11A2 - - - Ensembl - ENSG00000110911 - - - Genatlas - SLC11A2 - - - HGNC - 10908 - - - OMIM - 600523 - - - Reactome - P49281 - - - SwissProt - P49281 - - - - - 12q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85163 - Hypomyelination-congenital cataract syndrome - - Malformation syndrome - - - Disorder - - - - 20301737[PMID]_16951682[PMID] - - hyccin PI4KA lipid kinase complex subunit 1 - HYCC1 - - DRCTNNB1A - HCC - HYCC1 - down regulated by Ctnnb1, a - hyccin - - - gene with protein product - - - - Ensembl - ENSG00000122591 - - - Genatlas - FAM126A - - - HGNC - 24587 - - - ClinVar - FAM126A - - - OMIM - 610531 - - - SwissProt - Q9BYI3 - - - - - 7p15.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85164 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85164 - Camptodactyly-tall stature-scoliosis-hearing loss syndrome - - Disease - - - Disorder - - - - 17033969[PMID]_24864036[PMID] - - fibroblast growth factor receptor 3 - FGFR3 - - CD333 - CEK2 - JTK4 - - - gene with protein product - - - - Ensembl - ENSG00000068078 - - - Genatlas - FGFR3 - - - HGNC - 3690 - - - IUPHAR - 1810 - - - OMIM - 134934 - - - Reactome - P22607 - - - SwissProt - P22607 - - - ClinVar - FGFR3 - - - - - 4p16.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 85146 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85146 - Neurogenic scapuloperoneal syndrome, Kaeser type - - Disease - - - Disorder - - - - 17439987[PMID] - - desmin - DES - - CMD1I - CSM1 - CSM2 - intermediate filament protein - LGMD2R - cardiomyopathy, dilated 1I - - - gene with protein product - - - - ClinVar - DES - - - Ensembl - ENSG00000175084 - - - Genatlas - DES - - - HGNC - 2770 - - - OMIM - 125660 - - - Reactome - P17661 - - - SwissProt - P17661 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85128 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85128 - Bothnia retinal dystrophy - - Disease - - - Disorder - - - - 10102298[PMID] - - retinaldehyde binding protein 1 - RLBP1 - - CRALBP - - - gene with protein product - - - - Ensembl - ENSG00000140522 - - - Genatlas - RLBP1 - - - HGNC - 10024 - - - OMIM - 180090 - - - Reactome - P12271 - - - SwissProt - P12271 - - - IUPHAR - 2545 - - - ClinVar - RLBP1 - - - - - 15q26.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 85136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85136 - Cystic leukoencephalopathy without megalencephaly - - Disease - - - Disorder - - - - 28857146[PMID] - - NADH:ubiquinone oxidoreductase subunit A2 - NDUFA2 - - B8 - complex I B8 subunit - - - gene with protein product - - - - ClinVar - NDUFA2 - - - Ensembl - ENSG00000131495 - - - Genatlas - NDUFA2 - - - HGNC - 7685 - - - OMIM - 602137 - - - Reactome - O43678 - - - SwissProt - O43678 - - - - - 5q31.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 19525954[PMID] - - ribonuclease T2 - RNASET2 - - FLJ10907 - RNASE6PL - bA514O12.3 - - - gene with protein product - - - - ClinVar - RNASET2 - - - Reactome - O00584 - - - Ensembl - ENSG00000026297 - - - Genatlas - RNASET2 - - - HGNC - 21686 - - - OMIM - 612944 - - - SwissProt - O00584 - - - - - 6q27 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85112 - Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome - - Disease - - - Disorder - - - - 17041600[PMID] - - R-spondin 1 - RSPO1 - - FLJ40906 - RSPONDIN - - - gene with protein product - - - - Ensembl - ENSG00000169218 - - - Genatlas - RSPO1 - - - HGNC - 21679 - - - OMIM - 609595 - - - Reactome - Q2MKA7 - - - SwissProt - Q2MKA7 - - - ClinVar - RSPO1 - - - - - 1p34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 84132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84132 - Desmin-related myopathy with Mallory body-like inclusions - - Disease - - - Disorder - - - - 15122708[PMID] - - selenoprotein N - SELENON - - RSS - SELN - - - gene with protein product - - - - ClinVar - SEPN1 - - - Ensembl - ENSG00000162430 - - - Genatlas - SEPN1 - - - HGNC - 15999 - - - OMIM - 606210 - - - SwissProt - Q9NZV5 - - - - - 1p36.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85186 - Endosteal sclerosis-cerebellar hypoplasia syndrome - - Malformation syndrome - - - Disorder - - - - 28589944[PMID]_15672385[PMID] - - RNA polymerase III subunit B - POLR3B - - FLJ10388 - RPC2 - C128 - - - gene with protein product - - - - ClinVar - POLR3B - - - Ensembl - ENSG00000013503 - - - Genatlas - POLR3B - - - HGNC - 30348 - - - OMIM - 614366 - - - Reactome - Q9NW08 - - - SwissProt - Q9NW08 - - - - - 12q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85182 - Diaphyseal medullary stenosis-bone malignancy syndrome - - Disease - - - Disorder - - - - - - methylthioadenosine phosphorylase - MTAP - - MSAP - S-methyl-5'-thioadenosine phosphorylase - c86fus - - - gene with protein product - - - - SwissProt - Q13126 - - - Ensembl - ENSG00000099810 - - - Genatlas - MTAP - - - HGNC - 7413 - - - OMIM - 156540 - - - Reactome - Q13126 - - - ClinVar - MTAP - - - - - 9p21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85179 - Infantile osteopetrosis with neuroaxonal dysplasia - - Malformation syndrome - - - Disorder - - - - 23685543[PMID] - - osteoclastogenesis associated transmembrane protein 1 - OSTM1 - - CLCN7 accessory beta subunit - GL - HSPC019 - grey-lethal - - - gene with protein product - - - - Ensembl - ENSG00000081087 - - - Genatlas - OSTM1 - - - HGNC - 21652 - - - OMIM - 607649 - - - Reactome - Q86WC4 - - - SwissProt - Q86WC4 - - - ClinVar - OSTM1 - - - - - 6q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85173 - IMAGe syndrome - - Malformation syndrome - - - Disorder - - - - 22634751[PMID] - - cyclin dependent kinase inhibitor 1C - CDKN1C - - KIP2 - P57 - - - gene with protein product - - - - Ensembl - ENSG00000129757 - - - Genatlas - CDKN1C - - - HGNC - 1786 - - - OMIM - 600856 - - - SwissProt - P49918 - - - Reactome - P49918 - - - ClinVar - CDKN1C - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30503519[PMID] - - DNA polymerase epsilon, catalytic subunit - POLE - - DNA polymerase epsilon catalytic subunit A - POLE1 - - - gene with protein product - - - - ClinVar - POLE - - - OMIM - 174762 - - - Reactome - Q07864 - - - SwissProt - Q07864 - - - Ensembl - ENSG00000177084 - - - Genatlas - POLE - - - HGNC - 9177 - - - - - 12q24.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 85172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85172 - Microcephalic osteodysplastic dysplasia, Saul-Wilson type - - Disease - - - Disorder - - - - 30290151[PMID] - - component of oligomeric golgi complex 4 - COG4 - - COD1 - DKFZP586E1519 - - - gene with protein product - - - - ClinVar - COG4 - - - OMIM - 606976 - - - Reactome - Q9H9E3 - - - SwissProt - Q9H9E3 - - - Ensembl - ENSG00000103051 - - - Genatlas - COG4 - - - HGNC - 18620 - - - - - 16q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85169 - Familial digital arthropathy-brachydactyly - - Malformation syndrome - - - Disorder - - - - 21964574[PMID]_24830047[PMID] - - transient receptor potential cation channel subfamily V member 4 - TRPV4 - - CMT2C - OTRPC4 - TRP12 - VR-OAC - VRL-2 - VROAC - osmosensitive transient receptor potential channel 4 - - - gene with protein product - - - - Ensembl - ENSG00000111199 - - - Genatlas - TRPV4 - - - HGNC - 18083 - - - IUPHAR - 510 - - - OMIM - 605427 - - - Reactome - Q9HBA0 - - - SwissProt - Q9HBA0 - - - ClinVar - TRPV4 - - - - - 12q24.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 85167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85167 - Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome - - Disease - - - Disorder - - - - 24387990[PMID]_24387991[PMID] - - phosphate cytidylyltransferase 1A, choline - PCYT1A - - CT - CTPCT - CCTalpha - choline-phosphate cytidylyltransferase alpha - CTP:phosphocholine cytidylyltransferase-alpha - phosphorylcholine transferase alpha - - - gene with protein product - - - - Ensembl - ENSG00000161217 - - - Genatlas - PCYT1A - - - HGNC - 8754 - - - OMIM - 123695 - - - Reactome - P49585 - - - SwissProt - P49585 - - - ClinVar - PCYT1A - - - - - 3q29 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 85166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85166 - Platyspondylic dysplasia, Torrance type - - Malformation syndrome - - - Disorder - - - - 15643621[PMID] - - collagen type II alpha 1 chain - COL2A1 - - STL1 - - - gene with protein product - - - - ClinVar - COL2A1 - - - Ensembl - ENSG00000139219 - - - Genatlas - COL2A1 - - - HGNC - 2200 - - - OMIM - 120140 - - - Reactome - P02458 - - - SwissProt - P02458 - - - - - 12q13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 85165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85165 - Severe achondroplasia-developmental delay-acanthosis nigricans syndrome - - Disease - - - Disorder - - - - 10053006[PMID]_18076102[PMID] - - fibroblast growth factor receptor 3 - FGFR3 - - CD333 - CEK2 - JTK4 - - - gene with protein product - - - - Ensembl - ENSG00000068078 - - - Genatlas - FGFR3 - - - HGNC - 3690 - - - IUPHAR - 1810 - - - OMIM - 134934 - - - Reactome - P22607 - - - SwissProt - P22607 - - - ClinVar - FGFR3 - - - - - 4p16.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 603448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603448 - Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome - - Malformation syndrome - - - Disorder - - - - 33186545[PMID] - - vacuolar protein sorting 4 homolog A - VPS4A - - SKD2 - VPS4-1 - VPS4 - FLJ22197 - SKD1 - SKD1A - - - gene with protein product - - - - Ensembl - ENSG00000132612 - - - HGNC - 13488 - - - OMIM - 609982 - - - SwissProt - Q9UN37 - - - - - 16q23.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 603689 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603689 - KLHL7-related Bohring-Opitz-like syndrome - - Malformation syndrome - - - Disorder - - - - 29074562[PMID] - - kelch like family member 7 - KLHL7 - - KLHL6 - RP42 - SBBI26 - retinitis pigmentosa 42 - - - gene with protein product - - - - Ensembl - ENSG00000122550 - - - Genatlas - KLHL7 - - - HGNC - 15646 - - - OMIM - 611119 - - - SwissProt - Q8IXQ5 - - - ClinVar - KLHL7 - - - - - 7p15.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 603684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603684 - KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome - - Malformation syndrome - - - Disorder - - - - 29074562[PMID] - - kelch like family member 7 - KLHL7 - - KLHL6 - RP42 - SBBI26 - retinitis pigmentosa 42 - - - gene with protein product - - - - Ensembl - ENSG00000122550 - - - Genatlas - KLHL7 - - - HGNC - 15646 - - - OMIM - 611119 - - - SwissProt - Q8IXQ5 - - - ClinVar - KLHL7 - - - - - 7p15.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 603694 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603694 - KLHL7-related Crisponi/cold-induced sweating-like syndrome - - Disease - - - Disorder - - - - 29074562[PMID] - - kelch like family member 7 - KLHL7 - - KLHL6 - RP42 - SBBI26 - retinitis pigmentosa 42 - - - gene with protein product - - - - Ensembl - ENSG00000122550 - - - Genatlas - KLHL7 - - - HGNC - 15646 - - - OMIM - 611119 - - - SwissProt - Q8IXQ5 - - - ClinVar - KLHL7 - - - - - 7p15.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 610573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610573 - CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome - - Disease - - - Disorder - - - - 33217309[PMID] - - chloride voltage-gated channel 6 - CLCN6 - - CLC-6 - ClC-6 - KIAA0046 - - - gene with protein product - - - - HGNC - 2024 - - - Ensembl - ENSG00000011021 - - - OMIM - 602726 - - - IUPHAR - 705 - - - SwissProt - P51797 - - - - - 1p36.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 610569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610569 - KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome - - Disease - - - Disorder - - - - 29290337[PMID] - - bridge-like lipid transfer protein family member 1 - BLTP1 - - FLJ21404 - FSA - KIAA1371 - Tweek - fragile site-associated - - - gene with protein product - - - - HGNC - 26953 - - - Ensembl - ENSG00000138688 - - - SwissProt - Q2LD37 - - - OMIM - 611565 - - - - - 4q27 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 611201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611201 - Oculogastrointestinal-neurodevelopmental syndrome - - Malformation syndrome - - - Disorder - - - - 32885237[PMID] - - calpain 15 - CAPN15 - - - - gene with protein product - - - - OMIM - 603267 - - - HGNC - 11182 - - - Ensembl - ENSG00000103326 - - - SwissProt - O75808 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 600668 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600668 - CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome - - Disease - - - Disorder - - - - 30122539[PMID] - - cyclin K - CCNK - - CPR4 - - - gene with protein product - - - - Ensembl - ENSG00000090061 - - - OMIM - 603544 - - - HGNC - 1596 - - - SwissProt - O75909 - - - - - 14q32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 600663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600663 - NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance - - Malformation syndrome - - - Disorder - - - - 25408897[PMID] - - neurexin 1 - NRXN1 - - Hs.22998 - KIAA0578 - - - gene with protein product - - - - Reactome - P58400 - - - SwissProt - Q9ULB1 - - - Reactome - Q9ULB1 - - - ClinVar - NRXN1 - - - Ensembl - ENSG00000179915 - - - Genatlas - NRXN1 - - - HGNC - 8008 - - - OMIM - 600565 - - - SwissProt - P58400 - - - - - 2p16.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 97244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97244 - Rigid spine syndrome - - Disease - - - Disorder - - - - 25182138[PMID] - - actin alpha 1, skeletal muscle - ACTA1 - - NEM3 - nemaline myopathy type 3 - - - gene with protein product - - - - ClinVar - ACTA1 - - - OMIM - 102610 - - - Reactome - P68133 - - - SwissProt - P68133 - - - Ensembl - ENSG00000143632 - - - Genatlas - ACTA1 - - - HGNC - 129 - - - - - 1q42.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301468[PMID]_11528383[PMID] - - selenoprotein N - SELENON - - RSS - SELN - - - gene with protein product - - - - ClinVar - SEPN1 - - - Ensembl - ENSG00000162430 - - - Genatlas - SEPN1 - - - HGNC - 15999 - - - OMIM - 606210 - - - SwissProt - Q9NZV5 - - - - - 1p36.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 97249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97249 - Pontocerebellar hypoplasia type 3 - - Malformation syndrome - - - Disorder - - - - 25832664[PMID] - - piccolo presynaptic cytomatrix protein - PCLO - - ACZ - DKFZp779G1236 - KIAA0559 - aczonin - - - gene with protein product - - - - Ensembl - ENSG00000186472 - - - Genatlas - PCLO - - - HGNC - 13406 - - - OMIM - 604918 - - - SwissProt - Q9Y6V0 - - - ClinVar - PCLO - - - - - 7q21.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 97279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97279 - Insulinoma - - Disease - - - Disorder - - - - 24326773[PMID] - - YY1 transcription factor - YY1 - - INO80S - UCRBP - YIN-YANG-1 - NF-E1 - DELTA - Yin and Yang 1 protein - INO80 complex subunit S - - - gene with protein product - - - - HGNC - 12856 - - - SwissProt - P25490 - - - OMIM - 600013 - - - ClinVar - YY1 - - - Ensembl - ENSG00000100811 - - - Reactome - P25490 - - - Genatlas - YY1 - - - - - 14q32.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 26307114[PMID] - - menin 1 - MEN1 - - menin - - - gene with protein product - - - - Ensembl - ENSG00000133895 - - - Genatlas - MEN1 - - - HGNC - 7010 - - - OMIM - 613733 - - - Reactome - O00255 - - - SwissProt - O00255 - - - ClinVar - MEN1 - - - - - 11q13 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 97286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97286 - Carney-Stratakis syndrome - - Disease - - - Disorder - - - - 17667967[PMID] - - succinate dehydrogenase complex iron sulfur subunit B - SDHB - - iron-sulfur subunit of complex II - succinate dehydrogenase [ubiquinone] iron-sulfur subunit - - - gene with protein product - - - - ClinVar - SDHB - - - Reactome - P21912 - - - SwissProt - P21912 - - - Ensembl - ENSG00000117118 - - - Genatlas - SDHB - - - HGNC - 10681 - - - OMIM - 185470 - - - - - 1p36.13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 17667967[PMID] - - succinate dehydrogenase complex subunit C - SDHC - - CYB560 - cybL - large subunit of cytochrome b - succinate dehydrgenase cytochrome b - succinate dehydrogenase cytochrome b560 subunit - - - gene with protein product - - - - ClinVar - SDHC - - - Ensembl - ENSG00000143252 - - - Genatlas - SDHC - - - HGNC - 10682 - - - OMIM - 602413 - - - Reactome - Q99643 - - - SwissProt - Q99643 - - - - - 1q23.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 17667967[PMID] - - succinate dehydrogenase complex subunit D - SDHD - - cybS - small subunit of cytochrome b - - - gene with protein product - - - - ClinVar - SDHD - - - Ensembl - ENSG00000204370 - - - Genatlas - SDHD - - - HGNC - 10683 - - - OMIM - 602690 - - - Reactome - O14521 - - - SwissProt - O14521 - - - - - 11q23.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 97297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97297 - Bohring-Opitz syndrome - - Malformation syndrome - - - Disorder - - - - 21706002[PMID] - - ASXL transcriptional regulator 1 - ASXL1 - - KIAA0978 - - - gene with protein product - - - - Reactome - Q8IXJ9 - - - Ensembl - ENSG00000171456 - - - Genatlas - ASXL1 - - - HGNC - 18318 - - - OMIM - 612990 - - - SwissProt - Q8IXJ9 - - - ClinVar - ASXL1 - - - - - 20q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 97338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97338 - Melanoma of soft tissue - - Disease - - - Disorder - - - - 19561568[PMID] - - EWS RNA binding protein 1 - EWSR1 - - EWS - - - gene with protein product - - - - Reactome - Q01844 - - - Ensembl - ENSG00000182944 - - - Genatlas - EWSR1 - - - HGNC - 3508 - - - OMIM - 133450 - - - SwissProt - Q01844 - - - ClinVar - EWSR1 - - - - - 22q12.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 19561568[PMID] - - activating transcription factor 1 - ATF1 - - TREB36 - - - gene with protein product - - - - ClinVar - ATF1 - - - Ensembl - ENSG00000123268 - - - Genatlas - ATF1 - - - HGNC - 783 - - - OMIM - 123803 - - - Reactome - P18846 - - - SwissProt - P18846 - - - - - 12q13.12 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 19561568[PMID] - - cAMP responsive element binding protein 1 - CREB1 - - - - gene with protein product - - - - OMIM - 123810 - - - Reactome - P16220 - - - SwissProt - P16220 - - - Ensembl - ENSG00000118260 - - - Genatlas - CREB1 - - - HGNC - 2345 - - - ClinVar - CREB1 - - - - - 2q33.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 97346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97346 - ADan amyloidosis - - Clinical subtype - - - Subtype of disorder - - - - 10781099[PMID] - - integral membrane protein 2B - ITM2B - - BRI - BRI2 - BRICD2B - BRICHOS domain containing 2B - E25B - E3-16 - - - gene with protein product - - - - SwissProt - Q9Y287 - - - ClinVar - ITM2B - - - Ensembl - ENSG00000136156 - - - Genatlas - ITM2B - - - HGNC - 6174 - - - OMIM - 603904 - - - Reactome - Q9Y287 - - - - - 13q14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 97345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97345 - ABri amyloidosis - - Clinical subtype - - - Subtype of disorder - - - - 10391242[PMID] - - integral membrane protein 2B - ITM2B - - BRI - BRI2 - BRICD2B - BRICHOS domain containing 2B - E25B - E3-16 - - - gene with protein product - - - - SwissProt - Q9Y287 - - - ClinVar - ITM2B - - - Ensembl - ENSG00000136156 - - - Genatlas - ITM2B - - - HGNC - 6174 - - - OMIM - 603904 - - - Reactome - Q9Y287 - - - - - 13q14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 97362 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97362 - Renal hypoplasia, bilateral - - Clinical subtype - - - Subtype of disorder - - - - 11461952[PMID]_23539225[PMID]_22138676[PMID]_17513325[PMID] - - paired box 2 - PAX2 - - PAX-2 - - - gene with protein product - - - - Ensembl - ENSG00000075891 - - - Genatlas - PAX2 - - - HGNC - 8616 - - - OMIM - 167409 - - - SwissProt - Q02962 - - - ClinVar - PAX2 - - - - - 10q24.31 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 28270404[PMID] - - PBX homeobox 1 - PBX1 - - - - gene with protein product - - - - ClinVar - PBX1 - - - Ensembl - ENSG00000185630 - - - Genatlas - PBX1 - - - HGNC - 8632 - - - OMIM - 176310 - - - Reactome - P40424 - - - SwissProt - P40424 - - - - - 1q23.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 97363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97363 - Unilateral multicystic dysplastic kidney - - Clinical subtype - - - Subtype of disorder - - - - 20155289[PMID]_23725647[PMID] - - HNF1 homeobox B - HNF1B - - HNF1beta - LFB3 - MODY5 - VHNF1 - HNF1ß - hepatocyte nuclear factor 1 beta - - - gene with protein product - - - - ClinVar - HNF1B - - - Ensembl - ENSG00000275410 - - - Genatlas - HNF1B - - - HGNC - 11630 - - - OMIM - 189907 - - - Reactome - P35680 - - - SwissProt - P35680 - - - - - 17q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 97364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97364 - Bilateral multicystic dysplastic kidney - - Clinical subtype - - - Subtype of disorder - - - - 20155289[PMID]_23725647[PMID] - - HNF1 homeobox B - HNF1B - - HNF1beta - LFB3 - MODY5 - VHNF1 - HNF1ß - hepatocyte nuclear factor 1 beta - - - gene with protein product - - - - ClinVar - HNF1B - - - Ensembl - ENSG00000275410 - - - Genatlas - HNF1B - - - HGNC - 11630 - - - OMIM - 189907 - - - Reactome - P35680 - - - SwissProt - P35680 - - - - - 17q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 97369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97369 - Renal tubular dysgenesis of genetic origin - - Etiological subtype - - - Subtype of disorder - - - - 16116425[PMID]_22095942[PMID] - - angiotensin I converting enzyme - ACE - - ACE1 - CD143 - peptidyl-dipeptidase A - - - gene with protein product - - - - ClinVar - ACE - - - Genatlas - ACE - - - HGNC - 2707 - - - IUPHAR - 1613 - - - OMIM - 106180 - - - Reactome - P12821 - - - SwissProt - P12821 - - - Ensembl - ENSG00000159640 - - - - - 17q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16116425[PMID]_22095942[PMID] - - angiotensinogen - AGT - - alpha-1 antiproteinase, antitrypsin - - - gene with protein product - - - - Reactome - P01019 - - - SwissProt - P01019 - - - Ensembl - ENSG00000135744 - - - Genatlas - AGT - - - HGNC - 333 - - - OMIM - 106150 - - - ClinVar - AGT - - - - - 1q42.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16116425[PMID]_22095942[PMID] - - renin - REN - - - - gene with protein product - - - - Ensembl - ENSG00000143839 - - - Genatlas - REN - - - HGNC - 9958 - - - IUPHAR - 2413 - - - OMIM - 179820 - - - Reactome - P00797 - - - SwissProt - P00797 - - - ClinVar - REN - - - - - 1q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16116425[PMID]_22095942[PMID] - - angiotensin II receptor type 1 - AGTR1 - - ATR1 - angiotensin II type 1 receptor - AG2S - AGTR1A - AT1 - AT1B - AT2R1 - AT2R1A - AT2R1B - HAT1R - - - gene with protein product - - - - Ensembl - ENSG00000144891 - - - Genatlas - AGTR1 - - - HGNC - 336 - - - IUPHAR - 34 - - - OMIM - 106165 - - - Reactome - P30556 - - - SwissProt - P30556 - - - ClinVar - AGTR1 - - - - - 3q24 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 97548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97548 - Right sided atrial isomerism - - Malformation syndrome - - - Disorder - - - - 20413652[PMID] - - growth differentiation factor 1 - GDF1 - - - - gene with protein product - - - - ClinVar - GDF1 - - - SwissProt - P27539 - - - Ensembl - ENSG00000130283 - - - Genatlas - GDF1 - - - HGNC - 4214 - - - OMIM - 602880 - - - Reactome - P27539 - - - - - 19p13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 96182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96182 - Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 - - Etiological subtype - - - Subtype of disorder - - - - 31100449[PMID] - - growth factor receptor bound protein 10 - GRB10 - - - - gene with protein product - - - - HGNC - 4564 - - - Ensembl - ENSG00000106070 - - - OMIM - 601523 - - - SwissProt - Q13322 - - - - - 7p12.1 - 1 - - - - - Candidate gene tested in - - - Assessed - - - - - - 96191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96191 - Paternal uniparental disomy of chromosome 6 syndrome - - Malformation syndrome - - - Disorder - - - - - - hydatidiform mole associated and imprinted - HYMAI - - NCRNA00020 - non-protein coding RNA 20 - - - Non-coding RNA - - - - Ensembl - ENSG00000283122 - - - Genatlas - HYMAI - - - HGNC - 5326 - - - OMIM - 606546 - - - ClinVar - HYMAI - - - SwissProt - - - - - - 6q24.2 - 1 - - - - - Role in the phenotype of - - - Not yet assessed - - - - - - PLAG1 like zinc finger 1 - PLAGL1 - - LOT1 - ZAC - - - gene with protein product - - - - Ensembl - ENSG00000118495 - - - Genatlas - PLAGL1 - - - HGNC - 9046 - - - OMIM - 603044 - - - SwissProt - Q9UM63 - - - ClinVar - PLAGL1 - - - Reactome - Q9UM63 - - - - - 6q24.2 - 1 - - - - - Role in the phenotype of - - - Not yet assessed - - - - - - 96184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96184 - Temple syndrome due to maternal uniparental disomy of chromosome 14 - - Etiological subtype - - - Subtype of disorder - - - - 18176563[PMID]_24801763[PMID] - - maternally expressed 3 - MEG3 - - GTL2 - LINC00023 - NCRNA00023 - long intergenic non-protein coding RNA 23 - non-protein coding RNA 23 - onco-lncRNA-83 - gene trap locus 2 - - - Non-coding RNA - - - - Ensembl - ENSG00000214548 - - - Genatlas - MEG3 - - - HGNC - 14575 - - - OMIM - 605636 - - - SwissProt - - - - ClinVar - MEG3 - - - - - 14q32.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 18176563[PMID] - - delta like non-canonical Notch ligand 1 - DLK1 - - Delta1 - FA1 - Pref-1 - ZOG - pG2 - - - gene with protein product - - - - ClinVar - DLK1 - - - Ensembl - ENSG00000185559 - - - Genatlas - DLK1 - - - HGNC - 2907 - - - OMIM - 176290 - - - Reactome - P80370 - - - SwissProt - P80370 - - - - - 14q32.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 18176563[PMID] - - retrotransposon Gag like 1 - RTL1 - - Sushi-Ichi retrotransposon homolog 2 - SIRH2 - HUR1 - paternally expressed 11 - mammalian retrotransposon-derived 1 - MART1 - Mar1 - PEG11 - - - gene with protein product - - - - Ensembl - ENSG00000254656 - - - Genatlas - RTL1 - - - HGNC - 14665 - - - OMIM - 611896 - - - SwissProt - A6NKG5 - - - ClinVar - RTL1 - - - - - 14q32.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 96253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96253 - Cushing disease - - Disease - - - Disorder - - - - 28413019[PMID] - - cadherin related 23 - CDH23 - - CDHR23 - cadherin-related family member 23 - - - gene with protein product - - - - Ensembl - ENSG00000107736 - - - Genatlas - CDH23 - - - HGNC - 13733 - - - OMIM - 605516 - - - SwissProt - Q9H251 - - - ClinVar - CDH23 - - - - - 10q22.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 30093687[PMID] - - ubiquitin specific peptidase 48 - USP48 - - FLJ23277 - FLJ20103 - FLJ23054 - FLJ11328 - MGC14879 - - - gene with protein product - - - - HGNC - 18533 - - - Ensembl - ENSG00000090686 - - - OMIM - 617445 - - - SwissProt - Q86UV5 - - - - - 1p36.12 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 30093687[PMID] - - B-Raf proto-oncogene, serine/threonine kinase - BRAF - - BRAF1 - BRAF-1 - - - gene with protein product - - - - Ensembl - ENSG00000157764 - - - Genatlas - BRAF - - - HGNC - 1097 - - - IUPHAR - 1943 - - - OMIM - 164757 - - - Reactome - P15056 - - - SwissProt - P15056 - - - ClinVar - BRAF - - - - - 7q34 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 25485838[PMID] - - ubiquitin specific peptidase 8 - USP8 - - HumORF8 - KIAA0055 - SPG59 - UBPY - Ubiquitin carboxyl-terminal hydrolase 8 - Ubiquitin isopeptidase Y - - - gene with protein product - - - - Ensembl - ENSG00000138592 - - - Genatlas - USP8 - - - HGNC - 12631 - - - OMIM - 603158 - - - Reactome - P40818 - - - SwissProt - P40818 - - - IUPHAR - 3209 - - - ClinVar - USP8 - - - - - 15q21.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 34427636[PMID] - - nuclear receptor subfamily 3 group C member 1 - NR3C1 - - GR - - - gene with protein product - - - - ClinVar - NR3C1 - - - Ensembl - ENSG00000113580 - - - Genatlas - NR3C1 - - - HGNC - 7978 - - - IUPHAR - 625 - - - OMIM - 138040 - - - Reactome - P04150 - - - SwissProt - P04150 - - - - - 5q31.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 35596671[PMID]_33221858[PMID] - - tumor protein p53 - TP53 - - LFS1 - Li-Fraumeni syndrome - P53 - p53 - - - gene with protein product - - - - Ensembl - ENSG00000141510 - - - Genatlas - TP53 - - - HGNC - 11998 - - - OMIM - 191170 - - - Reactome - P04637 - - - SwissProt - P04637 - - - ClinVar - TP53 - - - - - 17p13.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 33106857[PMID] - - ATRX chromatin remodeler - ATRX - - RAD54 homolog (S. cerevisiae) - XH2 - XNP - - - gene with protein product - - - - Ensembl - ENSG00000085224 - - - Genatlas - ATRX - - - HGNC - 886 - - - OMIM - 300032 - - - SwissProt - P46100 - - - Reactome - P46100 - - - ClinVar - ATRX - - - - - Xq21.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 96266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96266 - Leydig cell hypoplasia due to partial LH resistance - - Clinical subtype - - - Subtype of disorder - - - - - - luteinizing hormone/choriogonadotropin receptor - LHCGR - - LCGR - LGR2 - LHR - ULG5 - luteinizing hormone receptor - - - gene with protein product - - - - ClinVar - LHCGR - - - Ensembl - ENSG00000138039 - - - Genatlas - LHCGR - - - HGNC - 6585 - - - IUPHAR - 254 - - - OMIM - 152790 - - - Reactome - P22888 - - - SwissProt - P22888 - - - - - 2p16.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 96265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96265 - Leydig cell hypoplasia due to complete LH resistance - - Clinical subtype - - - Subtype of disorder - - - - - - luteinizing hormone/choriogonadotropin receptor - LHCGR - - LCGR - LGR2 - LHR - ULG5 - luteinizing hormone receptor - - - gene with protein product - - - - ClinVar - LHCGR - - - Ensembl - ENSG00000138039 - - - Genatlas - LHCGR - - - HGNC - 6585 - - - IUPHAR - 254 - - - OMIM - 152790 - - - Reactome - P22888 - - - SwissProt - P22888 - - - - - 2p16.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 96334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96334 - Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 - - Etiological subtype - - - Subtype of disorder - - - - 18176563[PMID]_24801763[PMID] - - maternally expressed 3 - MEG3 - - GTL2 - LINC00023 - NCRNA00023 - long intergenic non-protein coding RNA 23 - non-protein coding RNA 23 - onco-lncRNA-83 - gene trap locus 2 - - - Non-coding RNA - - - - Ensembl - ENSG00000214548 - - - Genatlas - MEG3 - - - HGNC - 14575 - - - OMIM - 605636 - - - SwissProt - - - - ClinVar - MEG3 - - - - - 14q32.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 18176563[PMID] - - delta like non-canonical Notch ligand 1 - DLK1 - - Delta1 - FA1 - Pref-1 - ZOG - pG2 - - - gene with protein product - - - - ClinVar - DLK1 - - - Ensembl - ENSG00000185559 - - - Genatlas - DLK1 - - - HGNC - 2907 - - - OMIM - 176290 - - - Reactome - P80370 - - - SwissProt - P80370 - - - - - 14q32.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 18176563[PMID] - - retrotransposon Gag like 1 - RTL1 - - Sushi-Ichi retrotransposon homolog 2 - SIRH2 - HUR1 - paternally expressed 11 - mammalian retrotransposon-derived 1 - MART1 - Mar1 - PEG11 - - - gene with protein product - - - - Ensembl - ENSG00000254656 - - - Genatlas - RTL1 - - - HGNC - 14665 - - - OMIM - 611896 - - - SwissProt - A6NKG5 - - - ClinVar - RTL1 - - - - - 14q32.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 97234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97234 - Glycogen storage disease due to phosphoglycerate mutase deficiency - - Disease - - - Disorder - - - - - - phosphoglycerate mutase 2 - PGAM2 - - PGAM-M - - - gene with protein product - - - - Ensembl - ENSG00000164708 - - - Genatlas - PGAM2 - - - HGNC - 8889 - - - OMIM - 612931 - - - Reactome - P15259 - - - SwissProt - P15259 - - - ClinVar - PGAM2 - - - - - 7p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 97238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97238 - Rippling muscle disease - - Disease - - - Disorder - - - - 12557291[PMID]_15668980[PMID] - - caveolin 3 - CAV3 - - LGMD1C - LQT9 - M-caveolin - VIP-21 - VIP21 - - - gene with protein product - - - - Ensembl - ENSG00000182533 - - - Genatlas - CAV3 - - - HGNC - 1529 - - - OMIM - 601253 - - - Reactome - P56539 - - - SwissProt - P56539 - - - ClinVar - CAV3 - - - - - 3p25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 97239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97239 - Reducing body myopathy - - Disease - - - Disorder - - - - 18274675[PMID] - - four and a half LIM domains 1 - FHL1 - - FHL1B - FLH1A - Four-and-a-half LIM domains 1 - KYO-T - LIM protein SLIMMER - MGC111107 - SLIM1 - XMPMA - bA535K18.1 - - - gene with protein product - - - - Ensembl - ENSG00000022267 - - - Genatlas - FHL1 - - - HGNC - 3702 - - - OMIM - 300163 - - - SwissProt - Q13642 - - - ClinVar - FHL1 - - - Reactome - Q13642 - - - - - Xq26.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 97240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97240 - Zebra body myopathy - - Disease - - - Disorder - - - - 25747004[PMID] - - actin alpha 1, skeletal muscle - ACTA1 - - NEM3 - nemaline myopathy type 3 - - - gene with protein product - - - - ClinVar - ACTA1 - - - OMIM - 102610 - - - Reactome - P68133 - - - SwissProt - P68133 - - - Ensembl - ENSG00000143632 - - - Genatlas - ACTA1 - - - HGNC - 129 - - - - - 1q42.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 600194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600194 - Factor V Atlanta bleeding disorder - - Etiological subtype - - - Subtype of disorder - - - - 33773040[PMID] - - coagulation factor V - F5 - - - - gene with protein product - - - - ClinVar - F5 - - - Ensembl - ENSG00000198734 - - - Genatlas - F5 - - - HGNC - 3542 - - - IUPHAR - 2606 - - - OMIM - 612309 - - - Reactome - P12259 - - - SwissProt - P12259 - - - - - 1q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 97685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685 - 17q11 microdeletion syndrome - - Clinical subtype - - - Subtype of disorder - - - - - - neurofibromin 1 - NF1 - - Watson disease - neurofibromatosis - von Recklinghausen disease - - - gene with protein product - - - - Ensembl - ENSG00000196712 - - - Genatlas - NF1 - - - HGNC - 7765 - - - OMIM - 613113 - - - ClinVar - NF1 - - - Reactome - P21359 - - - SwissProt - P21359 - - - - - 17q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 95706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95706 - Non-syndromic posterior hypospadias - - Morphological anomaly - - - Disorder - - - - 24722170[PMID] - - androgen receptor - AR - - AIS - HUMARA - Kennedy disease - NR3C4 - SMAX1 - testicular feminization - - - gene with protein product - - - - Ensembl - ENSG00000169083 - - - Genatlas - AR - - - HGNC - 644 - - - IUPHAR - 628 - - - OMIM - 313700 - - - Reactome - P10275 - - - SwissProt - P10275 - - - ClinVar - AR - - - - - Xq12 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 17086185[PMID] - - mastermind like domain containing 1 - MAMLD1 - - CG1 - F18 - - - gene with protein product - - - - ClinVar - MAMLD1 - - - Ensembl - ENSG00000013619 - - - Genatlas - MAMLD1 - - - HGNC - 2568 - - - OMIM - 300120 - - - Reactome - Q13495 - - - SwissProt - Q13495 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 95702 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95702 - X-linked adrenal hypoplasia congenita - - Disease - - - Disorder - - - - 20301604[PMID] - - nuclear receptor subfamily 0 group B member 1 - NR0B1 - - AHCH - DAX1 - - - gene with protein product - - - - ClinVar - NR0B1 - - - IUPHAR - 635 - - - OMIM - 300473 - - - Reactome - P51843 - - - SwissProt - P51843 - - - Ensembl - ENSG00000169297 - - - Genatlas - NR0B1 - - - HGNC - 7960 - - - - - Xp21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 95716 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95716 - Familial thyroid dyshormonogenesis - - Disease - - - Disorder - - - - 20537182[PMID]_21543982[PMID] - - solute carrier family 5 member 5 - SLC5A5 - - NIS - sodium iodide symporter - - - gene with protein product - - - - Ensembl - ENSG00000105641 - - - Genatlas - SLC5A5 - - - HGNC - 11040 - - - OMIM - 601843 - - - Reactome - Q92911 - - - SwissProt - Q92911 - - - IUPHAR - 920 - - - ClinVar - SLC5A5 - - - - - 19p13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20537182[PMID]_21543982[PMID] - - thyroid peroxidase - TPO - - TPX - - - gene with protein product - - - - Ensembl - ENSG00000115705 - - - Genatlas - TPO - - - HGNC - 12015 - - - IUPHAR - 2526 - - - OMIM - 606765 - - - Reactome - P07202 - - - SwissProt - P07202 - - - ClinVar - TPO - - - - - 2p25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20537182[PMID]_21543982[PMID] - - dual oxidase 2 - DUOX2 - - LNOX2 - NADH/NADPH thyroid oxidase p138-tox - NADPH oxidase/peroxidase DUOX2 - NADPH thyroid oxidase 2 - P138(TOX) - P138-TOX - THOX2 - dual oxidase-like domains 2 - flavoprotein NADPH oxidase - nicotinamide adenine dinucleotide phosphate oxidase - - - gene with protein product - - - - ClinVar - DUOX2 - - - Ensembl - ENSG00000140279 - - - Genatlas - DUOX2 - - - HGNC - 13273 - - - OMIM - 606759 - - - Reactome - Q9NRD8 - - - SwissProt - Q9NRD8 - - - IUPHAR - 2999 - - - - - 15q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20537182[PMID]_21543982[PMID] - - dual oxidase maturation factor 2 - DUOXA2 - - - - gene with protein product - - - - Ensembl - ENSG00000140274 - - - Genatlas - DUOXA2 - - - HGNC - 32698 - - - OMIM - 612772 - - - SwissProt - Q1HG44 - - - ClinVar - DUOXA2 - - - - - 15q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20537182[PMID]_21543982[PMID] - - thyroglobulin - TG - - AITD3 - TGN - - - gene with protein product - - - - ClinVar - TG - - - Ensembl - ENSG00000042832 - - - Genatlas - TG - - - HGNC - 11764 - - - OMIM - 188450 - - - SwissProt - P01266 - - - - - 8q24.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20537182[PMID]_21543982[PMID] - - iodotyrosine deiodinase - IYD - - DEHAL1 - dJ422F24.1 - - - gene with protein product - - - - IUPHAR - 2488 - - - ClinVar - IYD - - - Ensembl - ENSG00000009765 - - - Genatlas - IYD - - - HGNC - 21071 - - - OMIM - 612025 - - - Reactome - Q6PHW0 - - - SwissProt - Q6PHW0 - - - - - 6q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 95713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95713 - Athyreosis - - Morphological anomaly - - - Disorder - - - - 28455095[PMID] - - forkhead box E1 - FOXE1 - - HFKH4 - TTF-2 - thyroid transcription factor 2 - - - gene with protein product - - - - Ensembl - ENSG00000178919 - - - Genatlas - FOXE1 - - - HGNC - 3806 - - - OMIM - 602617 - - - SwissProt - O00358 - - - ClinVar - FOXE1 - - - - - 9q22.33 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 28455095[PMID] - - NK2 homeobox 1 - NKX2-1 - - TTF-1 - TTF1 - - - gene with protein product - - - - ClinVar - NKX2-1 - - - Reactome - P43699 - - - Ensembl - ENSG00000136352 - - - Genatlas - NKX2-1 - - - HGNC - 11825 - - - OMIM - 600635 - - - SwissProt - P43699 - - - - - 14q13.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 24248179[PMID] - - solute carrier family 26 member 4 - SLC26A4 - - PDS - pendrin - Pendred syndrome - - - gene with protein product - - - - IUPHAR - 1100 - - - Ensembl - ENSG00000091137 - - - Genatlas - SLC26A4 - - - HGNC - 8818 - - - OMIM - 605646 - - - Reactome - O43511 - - - SwissProt - O43511 - - - ClinVar - SLC26A4 - - - - - 7q22.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 14725684[PMID] - - thyroid stimulating hormone receptor - TSHR - - LGR3 - - - gene with protein product - - - - Ensembl - ENSG00000165409 - - - Genatlas - TSHR - - - HGNC - 12373 - - - IUPHAR - 255 - - - OMIM - 603372 - - - Reactome - P16473 - - - SwissProt - P16473 - - - ClinVar - TSHR - - - - - 14q24-q31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 16418214[PMID]_25905381[PMID] - - NK2 homeobox 5 - NKX2-5 - - tinman paralog (Drosophila) - CSX1 - NKX2.5 - NKX4-1 - tinman (Drosophila) homolog - - - gene with protein product - - - - Reactome - P52952 - - - SwissProt - P52952 - - - Ensembl - ENSG00000183072 - - - Genatlas - NKX2-5 - - - HGNC - 2488 - - - OMIM - 600584 - - - ClinVar - NKX2-5 - - - - - 5q35.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25905381[PMID] - - paired box 8 - PAX8 - - PAX-8 - - - gene with protein product - - - - Reactome - Q06710 - - - Ensembl - ENSG00000125618 - - - Genatlas - PAX8 - - - HGNC - 8622 - - - OMIM - 167415 - - - SwissProt - Q06710 - - - ClinVar - PAX8 - - - - - 2q14.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 95712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95712 - Thyroid ectopia - - Morphological anomaly - - - Disorder - - - - 16418214[PMID]_25905381[PMID] - - NK2 homeobox 5 - NKX2-5 - - tinman paralog (Drosophila) - CSX1 - NKX2.5 - NKX4-1 - tinman (Drosophila) homolog - - - gene with protein product - - - - Reactome - P52952 - - - SwissProt - P52952 - - - Ensembl - ENSG00000183072 - - - Genatlas - NKX2-5 - - - HGNC - 2488 - - - OMIM - 600584 - - - ClinVar - NKX2-5 - - - - - 5q35.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25214233[PMID]_25905381[PMID] - - paired box 8 - PAX8 - - PAX-8 - - - gene with protein product - - - - Reactome - Q06710 - - - Ensembl - ENSG00000125618 - - - Genatlas - PAX8 - - - HGNC - 8622 - - - OMIM - 167415 - - - SwissProt - Q06710 - - - ClinVar - PAX8 - - - - - 2q14.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 95699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95699 - Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency - - Disease - - - Disorder - - - - - - cytochrome p450 oxidoreductase - POR - - CYPOR - FLJ26468 - NADPH--hemoprotein reductase - - - gene with protein product - - - - Reactome - P16435 - - - ClinVar - POR - - - Ensembl - ENSG00000127948 - - - Genatlas - POR - - - HGNC - 9208 - - - OMIM - 124015 - - - SwissProt - P16435 - - - - - 7q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 95496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95496 - Pituitary stalk interruption syndrome - - Morphological anomaly - - - Disorder - - - - 28453850[PMID] - - WD repeat domain 11 - WDR11 - - DR11 - FLJ10506 - HH14 - KIAA1351 - WDR15 - SRI1 - sensitization to ricin complex subunit 1 - - - gene with protein product - - - - Ensembl - ENSG00000120008 - - - Genatlas - WDR11 - - - HGNC - 13831 - - - OMIM - 606417 - - - SwissProt - Q9BZH6 - - - ClinVar - WDR11 - - - - - 10q26.12 - 1 - - - - - Candidate gene tested in - - - Assessed - - - - 28402530[PMID] - - roundabout guidance receptor 1 - ROBO1 - - DUTT1 - FLJ21882 - SAX3 - - - gene with protein product - - - - ClinVar - ROBO1 - - - HGNC - 10249 - - - Ensembl - ENSG00000169855 - - - SwissProt - Q9Y6N7 - - - OMIM - 602430 - - - Genatlas - ROBO1 - - - Reactome - Q9Y6N7 - - - - - 3p12.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 28453850[PMID] - - prokineticin receptor 2 - PROKR2 - - GPR73b - GPRg2 - PKR2 - dJ680N4.3 - - - gene with protein product - - - - ClinVar - PROKR2 - - - Ensembl - ENSG00000101292 - - - Genatlas - PROKR2 - - - HGNC - 15836 - - - IUPHAR - 336 - - - OMIM - 607123 - - - Reactome - Q8NFJ6 - - - SwissProt - Q8NFJ6 - - - - - 20p12.3 - 1 - - - - - Candidate gene tested in - - - Assessed - - - - 21270112[PMID] - - HESX homeobox 1 - HESX1 - - Rathke's pouch homeobox - ANF - RPX - - - gene with protein product - - - - Reactome - Q9UBX0 - - - ClinVar - HESX1 - - - Ensembl - ENSG00000163666 - - - Genatlas - HESX1 - - - HGNC - 4877 - - - OMIM - 601802 - - - SwissProt - Q9UBX0 - - - - - 3p14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21270112[PMID] - - LIM homeobox 4 - LHX4 - - Gsh4 - - - gene with protein product - - - - Reactome - Q969G2 - - - ClinVar - LHX4 - - - Ensembl - ENSG00000121454 - - - Genatlas - LHX4 - - - HGNC - 21734 - - - OMIM - 602146 - - - SwissProt - Q969G2 - - - - - 1q25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26529631[PMID] - - cell adhesion associated, oncogene regulated - CDON - - CDO - CDON1 - ORCAM - cell adhesion molecule-related/down-regulated by oncogenes - Ihog - - - gene with protein product - - - - Ensembl - ENSG00000064309 - - - ClinVar - CDON - - - Genatlas - CDON - - - HGNC - 17104 - - - OMIM - 608707 - - - Reactome - Q4KMG0 - - - SwissProt - Q4KMG0 - - - - - 11q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25322266[PMID] - - G protein-coupled receptor 161 - GPR161 - - RE2 - - - gene with protein product - - - - ClinVar - GPR161 - - - Ensembl - ENSG00000143147 - - - Genatlas - GPR161 - - - HGNC - 23694 - - - IUPHAR - 141 - - - OMIM - 612250 - - - Reactome - Q8N6U8 - - - SwissProt - Q8N6U8 - - - - - 1q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 95494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95494 - Combined pituitary hormone deficiencies, genetic forms - - Disease - - - Disorder - - - - 30414530[PMID] - - forkhead box A2 - FOXA2 - - - - gene with protein product - - - - HGNC - 5022 - - - Reactome - Q9Y261 - - - SwissProt - Q9Y261 - - - OMIM - 600288 - - - Genatlas - FOXA2 - - - ClinVar - FOXA2 - - - Ensembl - ENSG00000125798 - - - - - 20p11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15670191[PMID] - - POU class 1 homeobox 1 - POU1F1 - - pituitary transcript factor 1 - GHF-1 - POU1F1a - growth hormone factor 1 - PIT-1 - - - gene with protein product - - - - ClinVar - POU1F1 - - - Ensembl - ENSG00000064835 - - - Genatlas - POU1F1 - - - HGNC - 9210 - - - OMIM - 173110 - - - SwissProt - P28069 - - - - - 3p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 9462743[PMID] - - PROP paired-like homeobox 1 - PROP1 - - - - gene with protein product - - - - ClinVar - PROP1 - - - Reactome - O75360 - - - Ensembl - ENSG00000175325 - - - Genatlas - PROP1 - - - HGNC - 9455 - - - OMIM - 601538 - - - SwissProt - O75360 - - - - - 5q35.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 14561704[PMID] - - HESX homeobox 1 - HESX1 - - Rathke's pouch homeobox - ANF - RPX - - - gene with protein product - - - - Reactome - Q9UBX0 - - - ClinVar - HESX1 - - - Ensembl - ENSG00000163666 - - - Genatlas - HESX1 - - - HGNC - 4877 - - - OMIM - 601802 - - - SwissProt - Q9UBX0 - - - - - 3p14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18728160[PMID] - - orthodenticle homeobox 2 - OTX2 - - - - gene with protein product - - - - SwissProt - P32243 - - - Ensembl - ENSG00000165588 - - - Genatlas - OTX2 - - - HGNC - 8522 - - - OMIM - 600037 - - - ClinVar - OTX2 - - - - - 14q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25871839[PMID] - - LIM homeobox 4 - LHX4 - - Gsh4 - - - gene with protein product - - - - Reactome - Q969G2 - - - ClinVar - LHX4 - - - Ensembl - ENSG00000121454 - - - Genatlas - LHX4 - - - HGNC - 21734 - - - OMIM - 602146 - - - SwissProt - Q969G2 - - - - - 1q25.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20685856[PMID] - - GLI family zinc finger 2 - GLI2 - - HPE9 - THP1 - THP2 - tax helper protein 1 - tax helper protein 2 - tax-responsive element-2 holding protein - - - gene with protein product - - - - Ensembl - ENSG00000074047 - - - Genatlas - GLI2 - - - HGNC - 4318 - - - OMIM - 165230 - - - Reactome - P10070 - - - SwissProt - P10070 - - - ClinVar - GLI2 - - - - - 2q14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 95433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95433 - Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome - - Disease - - - Disorder - - - - 26669662[PMID] - - peroxisomal biogenesis factor 6 - PEX6 - - PAF-2 - PXAAA1 - - - gene with protein product - - - - Ensembl - ENSG00000124587 - - - Genatlas - PEX6 - - - HGNC - 8859 - - - OMIM - 601498 - - - SwissProt - Q13608 - - - ClinVar - PEX6 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 95434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95434 - Autosomal recessive cerebellar ataxia-movement disorder syndrome - - Disease - - - Disorder - - - - 33764426[PMID] - - VPS41 subunit of HOPS complex - VPS41 - - HVSP41 - - - gene with protein product - - - - HGNC - 12713 - - - Ensembl - ENSG00000006715 - - - OMIM - 605485 - - - SwissProt - P49754 - - - - - 7p14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29604224[PMID] - - vacuolar protein sorting 13 homolog D - VPS13D - - FLJ10619 - KIAA0453 - BLTP5D - bridge-like lipid transfer protein family member 5D - - - gene with protein product - - - - OMIM - 608877 - - - Ensembl - ENSG00000048707 - - - HGNC - 23595 - - - SwissProt - Q5THJ4 - - - - - 1p36.22-p36.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 95232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95232 - Lissencephaly due to LIS1 mutation - - Disease - - - Disorder - - - - 18285425[PMID] - - platelet activating factor acetylhydrolase 1b regulatory subunit 1 - PAFAH1B1 - - LIS1 - PAFAH - lissencephaly-1 - NudF - - - gene with protein product - - - - Ensembl - ENSG00000007168 - - - Genatlas - PAFAH1B1 - - - HGNC - 8574 - - - OMIM - 601545 - - - Reactome - P43034 - - - SwissProt - P43034 - - - ClinVar - PAFAH1B1 - - - - - 17p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 95159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95159 - Hepatoerythropoietic porphyria - - Disease - - - Disorder - - - - 24175354[PMID]_21668429[PMID]_17240319[PMID] - - uroporphyrinogen decarboxylase - UROD - - - - gene with protein product - - - - ClinVar - UROD - - - Reactome - P06132 - - - SwissProt - P06132 - - - Ensembl - ENSG00000126088 - - - Genatlas - UROD - - - HGNC - 12591 - - - OMIM - 613521 - - - - - 1p34.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 95428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95428 - COG8-CDG - - Disease - - - Disorder - - - - 17331980[PMID] - - component of oligomeric golgi complex 8 - COG8 - - DOR1 - FLJ22315 - - - gene with protein product - - - - ClinVar - COG8 - - - Ensembl - ENSG00000213380 - - - Genatlas - COG8 - - - HGNC - 18623 - - - OMIM - 606979 - - - Reactome - Q96MW5 - - - SwissProt - Q96MW5 - - - - - 16q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 94122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94122 - Cerebellar ataxia, Cayman type - - Disease - - - Disorder - - - - 20301317[PMID]_14556008[PMID] - - ATCAY kinesin light chain interacting caytaxin - ATCAY - - BNIP-H - Cayman ataxia - caytaxin - - - gene with protein product - - - - ClinVar - ATCAY - - - Ensembl - ENSG00000167654 - - - Genatlas - ATCAY - - - HGNC - 779 - - - OMIM - 608179 - - - SwissProt - Q86WG3 - - - Reactome - Q86WG3 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 94124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94124 - Spinocerebellar ataxia with axonal neuropathy type 1 - - Disease - - - Disorder - - - - 20301284[PMID] - - tyrosyl-DNA phosphodiesterase 1 - TDP1 - - FLJ11090 - SCAN1 - - - gene with protein product - - - - Ensembl - ENSG00000042088 - - - Genatlas - TDP1 - - - HGNC - 18884 - - - OMIM - 607198 - - - Reactome - Q9NUW8 - - - SwissProt - Q9NUW8 - - - ClinVar - TDP1 - - - - - 14q32.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 94125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94125 - Recessive mitochondrial ataxia syndrome - - Disease - - - Disorder - - - - 15824347[PMID] - - DNA polymerase gamma, catalytic subunit - POLG - - POLG1 - POLGA - - - gene with protein product - - - - Ensembl - ENSG00000140521 - - - Genatlas - POLG - - - HGNC - 9179 - - - OMIM - 174763 - - - SwissProt - P54098 - - - Reactome - P54098 - - - ClinVar - POLG - - - - - 15q26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 94147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94147 - Spinocerebellar ataxia type 7 - - Disease - - - Disorder - - - - 20301317[PMID] - - ataxin 7 - ATXN7 - - ADCAII - OPCA3 - SGF73 - SAGA associated factor 73 kDa homolog (S. cerevisiae) - Autosomal dominant cerebellar ataxia with retinal degeneration - - - gene with protein product - - - - ClinVar - ATXN7 - - - Reactome - O15265 - - - SwissProt - O15265 - - - Ensembl - ENSG00000163635 - - - Genatlas - ATXN7 - - - HGNC - 10560 - - - OMIM - 607640 - - - - - 3p14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 94150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94150 - Anonychia congenita totalis - - Clinical subtype - - - Subtype of disorder - - - - 17914448[PMID] - - R-spondin 4 - RSPO4 - - dJ824F16.3 - - - gene with protein product - - - - Ensembl - ENSG00000101282 - - - Genatlas - RSPO4 - - - HGNC - 16175 - - - OMIM - 610573 - - - Reactome - Q2I0M5 - - - ClinVar - RSPO4 - - - SwissProt - Q2I0M5 - - - - - 20p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 94064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94064 - Deafness-infertility syndrome - - Malformation syndrome - - - Disorder - - - - 17098888[PMID] - - cation channel sperm associated 2 - CATSPER2 - - - - gene with protein product - - - - ClinVar - CATSPER2 - - - Ensembl - ENSG00000166762 - - - Genatlas - CATSPER2 - - - HGNC - 18810 - - - IUPHAR - 389 - - - OMIM - 607249 - - - Reactome - Q96P56 - - - SwissProt - Q96P56 - - - - - 15q15.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 17098888[PMID] - - stereocilin - STRC - - - - gene with protein product - - - - ClinVar - STRC - - - SwissProt - Q7RTU9 - - - Ensembl - ENSG00000242866 - - - Genatlas - STRC - - - HGNC - 16035 - - - OMIM - 606440 - - - - - 15q15.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 94063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94063 - 12q14 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - 17220210[PMID] - - LEM domain containing 3 - LEMD3 - - inner nuclear membrane protein Man1 - MAN1 - MAN antigen 1 - - - gene with protein product - - - - ClinVar - LEMD3 - - - Ensembl - ENSG00000174106 - - - Genatlas - LEMD3 - - - HGNC - 28887 - - - OMIM - 607844 - - - Reactome - Q9Y2U8 - - - SwissProt - Q9Y2U8 - - - - - 12q14.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 28407409[PMID] - - high mobility group AT-hook 2 - HMGA2 - - BABL - LIPO - - - gene with protein product - - - - Genatlas - HMGA2 - - - HGNC - 5009 - - - OMIM - 600698 - - - Reactome - P52926 - - - SwissProt - P52926 - - - Ensembl - ENSG00000149948 - - - ClinVar - HMGA2 - - - - - 12q14.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 94065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94065 - 15q24 microdeletion syndrome - - Etiological subtype - - - Subtype of disorder - - - - 27399968[PMID] - - SIN3 transcription regulator family member A - SIN3A - - DKFZP434K2235 - KIAA0700 - - - gene with protein product - - - - OMIM - 607776 - - - SwissProt - Q96ST3 - - - Ensembl - ENSG00000169375 - - - Reactome - Q96ST3 - - - ClinVar - SIN3A - - - Genatlas - SIN3A - - - HGNC - 19353 - - - - - 15q24.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 94068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94068 - Spondyloepiphyseal dysplasia congenita - - Disease - - - Disorder - - - - 26030151[PMID] - - collagen type II alpha 1 chain - COL2A1 - - STL1 - - - gene with protein product - - - - ClinVar - COL2A1 - - - Ensembl - ENSG00000139219 - - - Genatlas - COL2A1 - - - HGNC - 2200 - - - OMIM - 120140 - - - Reactome - P02458 - - - SwissProt - P02458 - - - - - 12q13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 94083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94083 - Partington syndrome - - Malformation syndrome - - - Disorder - - - - 11889467[PMID] - - aristaless related homeobox - ARX - - CT121 - EIEE1 - ISSX - cancer/testis antigen 121 - - - gene with protein product - - - - ClinVar - ARX - - - SwissProt - Q96QS3 - - - Ensembl - ENSG00000004848 - - - Genatlas - ARX - - - HGNC - 18060 - - - OMIM - 300382 - - - - - Xp21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 94088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94088 - Hereditary renal hypouricemia - - Malformation syndrome - - - Disorder - - - - 21148271[PMID]_23386035[PMID] - - solute carrier family 22 member 12 - SLC22A12 - - UAT - OAT4L - RST - URAT1 - hURAT1 - urate anion transporter 1 - renal-specific transporter - - - gene with protein product - - - - ClinVar - SLC22A12 - - - OMIM - 607096 - - - Reactome - Q96S37 - - - SwissProt - Q96S37 - - - IUPHAR - 1031 - - - Ensembl - ENSG00000197891 - - - Genatlas - SLC22A12 - - - HGNC - 17989 - - - - - 11q13.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 19926891[PMID]_21810765[PMID] - - solute carrier family 2 member 9 - SLC2A9 - - GLUTX - Glut9 - URATv1 - urate voltage-driven efflux transporter 1 - - - gene with protein product - - - - Ensembl - ENSG00000109667 - - - Genatlas - SLC2A9 - - - HGNC - 13446 - - - OMIM - 606142 - - - Reactome - Q9NRM0 - - - SwissProt - Q9NRM0 - - - IUPHAR - 882 - - - ClinVar - SLC2A9 - - - - - 4p16.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 94089 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94089 - Pseudohypoparathyroidism type 1B - - Disease - - - Disorder - - - - - - GNAS complex locus - GNAS - - G protein subunit alpha S - GNASXL - GPSA - NESP - NESP55 - SCG6 - SgVI - secretogranin VI - - - gene with protein product - - - - ClinVar - GNAS - - - SwissProt - P63092 - - - SwissProt - P84996 - - - SwissProt - Q5JWF2 - - - Ensembl - ENSG00000087460 - - - Genatlas - GNAS - - - HGNC - 4392 - - - OMIM - 139320 - - - Reactome - P63092 - - - SwissProt - O95467 - - - - - 20q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - syntaxin 16 - STX16 - - SYN-16 - SYN16 - hsyn16 - - - gene with protein product - - - - Ensembl - ENSG00000124222 - - - Genatlas - STX16 - - - HGNC - 11431 - - - OMIM - 603666 - - - SwissProt - O14662 - - - ClinVar - STX16 - - - Reactome - O14662 - - - - - 20q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 96148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96148 - Distal deletion 10q syndrome - - Malformation syndrome - - - Disorder - - - - 35340043[PMID] - - EBF transcription factor 3 - EBF3 - - COE3 - DKFZp667B0210 - Transcription factor COE3 - - - gene with protein product - - - - HGNC - 19087 - - - Ensembl - ENSG00000108001 - - - SwissProt - Q9H4W6 - - - OMIM - 607407 - - - Genatlas - EBF3 - - - ClinVar - EBF3 - - - - - 10q26.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 96147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96147 - Kleefstra syndrome due to 9q34 microdeletion - - Etiological subtype - - - Subtype of disorder - - - - 20945554[PMID] - - euchromatic histone lysine methyltransferase 1 - EHMT1 - - FLJ40292 - GLP - Eu-HMTase1 - FLJ12879 - KIAA1876 - KMT1D - bA188C12.1 - - - gene with protein product - - - - Genatlas - EHMT1 - - - HGNC - 24650 - - - OMIM - 607001 - - - Reactome - Q9H9B1 - - - SwissProt - Q9H9B1 - - - Ensembl - ENSG00000181090 - - - IUPHAR - 2651 - - - ClinVar - EHMT1 - - - - - 9q34.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 95720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95720 - Thyroid hypoplasia - - Morphological anomaly - - - Disorder - - - - 24248179[PMID] - - solute carrier family 26 member 4 - SLC26A4 - - PDS - pendrin - Pendred syndrome - - - gene with protein product - - - - IUPHAR - 1100 - - - Ensembl - ENSG00000091137 - - - Genatlas - SLC26A4 - - - HGNC - 8818 - - - OMIM - 605646 - - - Reactome - O43511 - - - SwissProt - O43511 - - - ClinVar - SLC26A4 - - - - - 7q22.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25153578[PMID]_25905381[PMID] - - thyroid stimulating hormone receptor - TSHR - - LGR3 - - - gene with protein product - - - - Ensembl - ENSG00000165409 - - - Genatlas - TSHR - - - HGNC - 12373 - - - IUPHAR - 255 - - - OMIM - 603372 - - - Reactome - P16473 - - - SwissProt - P16473 - - - ClinVar - TSHR - - - - - 14q24-q31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 11232006[PMID]_11502839[PMID]_25146893[PMID]_25905381[PMID] - - paired box 8 - PAX8 - - PAX-8 - - - gene with protein product - - - - Reactome - Q06710 - - - Ensembl - ENSG00000125618 - - - Genatlas - PAX8 - - - HGNC - 8622 - - - OMIM - 167415 - - - SwissProt - Q06710 - - - ClinVar - PAX8 - - - - - 2q14.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 597623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597623 - IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome - - Disease - - - Disorder - - - - 30057031[PMID] - - interferon regulatory factor 2 binding protein like - IRF2BPL - - EAP1 - KIAA1865 - enhanced at puberty 1 - - - gene with protein product - - - - HGNC - 14282 - - - Ensembl - ENSG00000119669 - - - SwissProt - Q9H1B7 - - - Reactome - Q9H1B7 - - - OMIM - 611720 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 597733 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597733 - Oculocutaneous albinism type 8 - - Disease - - - Disorder - - - - 33100333[PMID] - - dopachrome tautomerase - DCT - - TRP-2 - dopachrome delta-isomerase - L-dopachrome isomerase - L-dopachrome tautomerase - TRP2 - - - gene with protein product - - - - HGNC - 2709 - - - Ensembl - ENSG00000080166 - - - OMIM - 191275 - - - SwissProt - P40126 - - - - - 13q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 597738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597738 - Luscan-Lumish syndrome - - Malformation syndrome - - - Disorder - - - - 22495309[PMID] - - SET domain containing 2, histone lysine methyltransferase - SETD2 - - FLJ23184 - HIF-1 - HYPB - KIAA1732 - KMT3A - - - gene with protein product - - - - OMIM - 612778 - - - Reactome - Q9BYW2 - - - SwissProt - Q9BYW2 - - - Ensembl - ENSG00000181555 - - - Genatlas - SETD2 - - - HGNC - 18420 - - - ClinVar - SETD2 - - - IUPHAR - 2702 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 597887 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597887 - ALPI-related inflammatory bowel disease - - Disease - - - Disorder - - - - 29567797[PMID] - - alkaline phosphatase, intestinal - ALPI - - IAP - intestinal alkaline phosphatase - - - gene with protein product - - - - Ensembl - ENSG00000163295 - - - OMIM - 171740 - - - SwissProt - P09923 - - - HGNC - 437 - - - - - 2q37.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 597939 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597939 - Euthyroid dysprealbuminemic hyperthyroxinemia - - Disease - - - Disorder - - - - 1979335[PMID] - - transthyretin - TTR - - CTS - HsT2651 - - - gene with protein product - - - - IUPHAR - 2851 - - - Ensembl - ENSG00000118271 - - - Genatlas - TTR - - - HGNC - 12405 - - - OMIM - 176300 - - - Reactome - P02766 - - - SwissProt - P02766 - - - ClinVar - TTR - - - - - 18q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 597743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597743 - SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome - - Malformation syndrome - - - Disorder - - - - 32710489[PMID] - - SET domain containing 2, histone lysine methyltransferase - SETD2 - - FLJ23184 - HIF-1 - HYPB - KIAA1732 - KMT3A - - - gene with protein product - - - - OMIM - 612778 - - - Reactome - Q9BYW2 - - - SwissProt - Q9BYW2 - - - Ensembl - ENSG00000181555 - - - Genatlas - SETD2 - - - HGNC - 18420 - - - ClinVar - SETD2 - - - IUPHAR - 2702 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93552 - Pediatric systemic lupus erythematosus - - Disease - - - Disorder - - - - 35977808[PMID] - - spermidine/spermine N1-acetyltransferase 1 - SAT1 - - SSAT - diamine N-acetyltransferase 1 - - - gene with protein product - - - - Ensembl - ENSG00000130066 - - - Genatlas - SAT1 - - - HGNC - 10540 - - - OMIM - 313020 - - - Reactome - P21673 - - - SwissProt - P21673 - - - ClinVar - SAT1 - - - - - Xp22.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24023622[PMID]_17804842[PMID] - - signal transducer and activator of transcription 4 - STAT4 - - - - gene with protein product - - - - Ensembl - ENSG00000138378 - - - Genatlas - STAT4 - - - HGNC - 11365 - - - OMIM - 600558 - - - SwissProt - Q14765 - - - Reactome - Q14765 - - - ClinVar - STAT4 - - - - - 2q32.2-q32.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 24023622[PMID] - - secreted phosphoprotein 1 - SPP1 - - ETA-1 - BSPI - early T-lymphocyte activation 1 - lnc-PKD2-2-3 - - - gene with protein product - - - - Ensembl - ENSG00000118785 - - - Genatlas - SPP1 - - - HGNC - 11255 - - - OMIM - 166490 - - - Reactome - P10451 - - - SwissProt - P10451 - - - ClinVar - SPP1 - - - - - 4q22.1 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - 19329491[PMID] - - interleukin 1 receptor associated kinase 1 - IRAK1 - - IRAK - pelle - - - gene with protein product - - - - Genatlas - IRAK1 - - - HGNC - 6112 - - - IUPHAR - 2042 - - - OMIM - 300283 - - - Reactome - P51617 - - - SwissProt - P51617 - - - Ensembl - ENSG00000184216 - - - ClinVar - IRAK1 - - - - - Xq28 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 597874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597874 - MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome - - Disease - - - Disorder - - - - 30031689[PMID] - - methenyltetrahydrofolate synthetase - MTHFS - - HsT19268 - 5,10-methenyltetrahydrofolate synthetase - 5-formyltetrahydrofolate cyclo-ligase - - - gene with protein product - - - - OMIM - 604197 - - - Reactome - P49914 - - - HGNC - 7437 - - - Ensembl - ENSG00000136371 - - - ClinVar - MTHFS - - - Genatlas - MTHFS - - - SwissProt - P49914 - - - - - 15q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93562 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93562 - AFib amyloidosis - - Clinical subtype - - - Subtype of disorder - - - - 9389696[PMID] - - fibrinogen alpha chain - FGA - - - - gene with protein product - - - - ClinVar - FGA - - - Ensembl - ENSG00000171560 - - - Genatlas - FGA - - - HGNC - 3661 - - - OMIM - 134820 - - - Reactome - P02671 - - - SwissProt - P02671 - - - - - 4q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 598603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598603 - Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome - - Malformation syndrome - - - Disorder - - - - 30290154[PMID] - - potassium two pore domain channel subfamily K member 4 - KCNK4 - - K2p4.1 - TRAAK - - - gene with protein product - - - - HGNC - 6279 - - - Ensembl - ENSG00000182450 - - - SwissProt - Q9NYG8 - - - Reactome - Q9NYG8 - - - IUPHAR - 516 - - - OMIM - 605720 - - - - - 11q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 598164 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598164 - FOXG1 syndrome due to intragenic alteration - - Clinical subtype - - - Subtype of disorder - - - - 31454984[PMID] - - forkhead box G1 - FOXG1 - - brain factor 1 - BF1 - HBF-3 - HFK1 - HFK2 - HFK3 - QIN - - - gene with protein product - - - - ClinVar - FOXG1 - - - Ensembl - ENSG00000176165 - - - Genatlas - FOXG1 - - - HGNC - 3811 - - - OMIM - 164874 - - - SwissProt - P55316 - - - - - 14q12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 93560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93560 - AApoAI amyloidosis - - Clinical subtype - - - Subtype of disorder - - - - 19324996[PMID] - - apolipoprotein A1 - APOA1 - - - - gene with protein product - - - - Ensembl - ENSG00000118137 - - - Genatlas - APOA1 - - - HGNC - 600 - - - OMIM - 107680 - - - Reactome - P02647 - - - SwissProt - P02647 - - - ClinVar - APOA1 - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93561 - ALys amyloidosis - - Clinical subtype - - - Subtype of disorder - - - - 11849445[PMID]_12675840[PMID] - - lysozyme - LYZ - - renal amyloidosis - - - gene with protein product - - - - Ensembl - ENSG00000090382 - - - Genatlas - LYZ - - - HGNC - 6740 - - - OMIM - 153450 - - - Reactome - P61626 - - - SwissProt - P61626 - - - ClinVar - LYZ - - - - - 12q15 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93571 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93571 - Dense deposit disease - - Histopathological subtype - - - Subtype of disorder - - - - 22388616[PMID]_20301598[PMID] - - complement factor H - CFH - - ARMD4 - ARMS1 - FHL1 - H factor 2 (complement) - HUS - age-related maculopathy susceptibility 1 - beta-1H - - - gene with protein product - - - - Ensembl - ENSG00000000971 - - - Genatlas - CFH - - - HGNC - 4883 - - - OMIM - 134370 - - - Reactome - P08603 - - - SwissProt - P08603 - - - ClinVar - CFH - - - - - 1q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23728178[PMID] - - complement factor H related 1 - CFHR1 - - CFHL - FHR1 - H36-1 - H36-2 - - - gene with protein product - - - - ClinVar - CFHR1 - - - Ensembl - ENSG00000244414 - - - Genatlas - CFHR1 - - - HGNC - 4888 - - - OMIM - 134371 - - - SwissProt - Q03591 - - - Reactome - Q03591 - - - - - 1q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 597201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597201 - TRIM22-related inflammatory bowel disease - - Disease - - - Disorder - - - - 32463623[PMID]_26836588[PMID] - - tripartite motif containing 22 - TRIM22 - - RNF94 - GPSTAF50 - STAF50 - - - gene with protein product - - - - Ensembl - ENSG00000132274 - - - OMIM - 606559 - - - SwissProt - Q8IYM9 - - - HGNC - 16379 - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474 - Scheie syndrome - - Clinical subtype - - - Subtype of disorder - - - - 8680403[PMID] - - alpha-L-iduronidase - IDUA - - MPS1 - MPSI - mucopolysaccharidosis type I - - - gene with protein product - - - - ClinVar - IDUA - - - Ensembl - ENSG00000127415 - - - Genatlas - IDUA - - - HGNC - 5391 - - - OMIM - 252800 - - - Reactome - P35475 - - - SwissProt - P35475 - - - - - 4p16.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476 - Hurler-Scheie syndrome - - Clinical subtype - - - Subtype of disorder - - - - 8680403[PMID] - - alpha-L-iduronidase - IDUA - - MPS1 - MPSI - mucopolysaccharidosis type I - - - gene with protein product - - - - ClinVar - IDUA - - - Ensembl - ENSG00000127415 - - - Genatlas - IDUA - - - HGNC - 5391 - - - OMIM - 252800 - - - Reactome - P35475 - - - SwissProt - P35475 - - - - - 4p16.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 - Hurler syndrome - - Clinical subtype - - - Subtype of disorder - - - - 8680403[PMID] - - alpha-L-iduronidase - IDUA - - MPS1 - MPSI - mucopolysaccharidosis type I - - - gene with protein product - - - - ClinVar - IDUA - - - Ensembl - ENSG00000127415 - - - Genatlas - IDUA - - - HGNC - 5391 - - - OMIM - 252800 - - - Reactome - P35475 - - - SwissProt - P35475 - - - - - 4p16.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93399 - Juvenile sialidosis type 2 - - Clinical subtype - - - Subtype of disorder - - - - 19568825[PMID] - - neuraminidase 1 - NEU1 - - sialidase-1 - - - gene with protein product - - - - Genatlas - NEU1 - - - HGNC - 7758 - - - OMIM - 608272 - - - Reactome - Q99519 - - - SwissProt - Q99519 - - - Ensembl - ENSG00000204386 - - - IUPHAR - 3214 - - - ClinVar - NEU1 - - - - - 6p21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93400 - Congenital sialidosis type 2 - - Clinical subtype - - - Subtype of disorder - - - - 14695530[PMID]_19568825[PMID] - - neuraminidase 1 - NEU1 - - sialidase-1 - - - gene with protein product - - - - Genatlas - NEU1 - - - HGNC - 7758 - - - OMIM - 608272 - - - Reactome - Q99519 - - - SwissProt - Q99519 - - - Ensembl - ENSG00000204386 - - - IUPHAR - 3214 - - - ClinVar - NEU1 - - - - - 6p21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 599373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599373 - STXBP1-related encephalopathy - - Disease - - - Disorder - - - - 32643187[PMID] - - syntaxin binding protein 1 - STXBP1 - - nSec1 - MUNC18-1 - UNC18 - hUNC18 - rbSec1 - syntaxin-binding protein 1 - - - gene with protein product - - - - ClinVar - STXBP1 - - - Ensembl - ENSG00000136854 - - - Genatlas - STXBP1 - - - HGNC - 11444 - - - OMIM - 602926 - - - Reactome - P61764 - - - SwissProt - P61764 - - - - - 9q34.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 599376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599376 - Hypomyelination of early myelinating structures - - Disease - - - Disorder - - - - 26125040[PMID] - - proteolipid protein 1 - PLP1 - - GPM6C - Pelizaeus-Merzbacher disease - - - gene with protein product - - - - Ensembl - ENSG00000123560 - - - Genatlas - PLP1 - - - HGNC - 9086 - - - OMIM - 300401 - - - SwissProt - P60201 - - - ClinVar - PLP1 - - - - - Xq22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93405 - Syndactyly type 4 - - Morphological anomaly - - - Disorder - - - - - - sonic hedgehog signaling molecule - SHH - - HHG1 - MCOPCB5 - SMMCI - TPT - TPTPS - - - gene with protein product - - - - ClinVar - SHH - - - Ensembl - ENSG00000164690 - - - Genatlas - SHH - - - HGNC - 10848 - - - OMIM - 600725 - - - Reactome - Q15465 - - - SwissProt - Q15465 - - - - - 7q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24456159[PMID] - - limb development membrane protein 1 - LMBR1 - - ACHP - FLJ11665 - ZRS - - - gene with protein product - - - - ClinVar - LMBR1 - - - Ensembl - ENSG00000105983 - - - Genatlas - LMBR1 - - - HGNC - 13243 - - - OMIM - 605522 - - - SwissProt - Q8WVP7 - - - - - 7q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 599418 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599418 - Hereditary angioedema with normal C1Inh not related to F12 or PLG variant - - Clinical subtype - - - Subtype of disorder - - - - 28601681[PMID] - - angiopoietin 1 - ANGPT1 - - KIAA0003 - Ang1 - AGPT-1 - - - gene with protein product - - - - Reactome - Q15389 - - - HGNC - 484 - - - Ensembl - ENSG00000154188 - - - SwissProt - Q15389 - - - IUPHAR - 4867 - - - OMIM - 601667 - - - - - 8q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33508266[PMID] - - myoferlin - MYOF - - fer-1-like family member 3 - KIAA1207 - - - gene with protein product - - - - Ensembl - ENSG00000138119 - - - OMIM - 604603 - - - SwissProt - Q9NZM1 - - - HGNC - 3656 - - - - - 10q23.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33059692[PMID] - - kininogen 1 - KNG1 - - HMWK - BK - alpha-2-thiol proteinase inhibitor - bradykinin - high-molecular-weight kininogen - - - gene with protein product - - - - ClinVar - KNG1 - - - Ensembl - ENSG00000113889 - - - Genatlas - KNG1 - - - HGNC - 6383 - - - OMIM - 612358 - - - Reactome - P01042 - - - SwissProt - P01042 - - - - - 3q27.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33799813[PMID] - - heparan sulfate-glucosamine 3-sulfotransferase 6 - HS3ST6 - - - - gene with protein product - - - - HGNC - 14178 - - - OMIM - 619210 - - - SwissProt - Q96QI5 - - - Ensembl - ENSG00000162040 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93404 - Syndactyly type 3 - - Morphological anomaly - - - Disorder - - - - 12457340[PMID]_14729836[PMID] - - gap junction protein alpha 1 - GJA1 - - CX43 - ODD - ODOD - SDTY3 - connexin 43 - oculodentodigital dysplasia (syndactyly type III) - - - gene with protein product - - - - ClinVar - GJA1 - - - Ensembl - ENSG00000152661 - - - Genatlas - GJA1 - - - HGNC - 4274 - - - OMIM - 121014 - - - Reactome - P17302 - - - SwissProt - P17302 - - - IUPHAR - 728 - - - - - 6q22.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93406 - Syndactyly type 5 - - Morphological anomaly - - - Disorder - - - - 17236141[PMID] - - homeobox D13 - HOXD13 - - synpolydactyly - - - gene with protein product - - - - Reactome - P35453 - - - ClinVar - HOXD13 - - - Ensembl - ENSG00000128714 - - - Genatlas - HOXD13 - - - HGNC - 5136 - - - OMIM - 142989 - - - SwissProt - P35453 - - - - - 2q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93409 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93409 - Brachydactyly-syndactyly, Zhao type - - Malformation syndrome - - - Disorder - - - - 17236141[PMID] - - homeobox D13 - HOXD13 - - synpolydactyly - - - gene with protein product - - - - Reactome - P35453 - - - ClinVar - HOXD13 - - - Ensembl - ENSG00000128714 - - - Genatlas - HOXD13 - - - HGNC - 5136 - - - OMIM - 142989 - - - SwissProt - P35453 - - - - - 2q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 599579 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599579 - Factor V Amsterdam bleeding disorder - - Etiological subtype - - - Subtype of disorder - - - - 25634741[PMID] - - coagulation factor V - F5 - - - - gene with protein product - - - - ClinVar - F5 - - - Ensembl - ENSG00000198734 - - - Genatlas - F5 - - - HGNC - 3542 - - - IUPHAR - 2606 - - - OMIM - 612309 - - - Reactome - P12259 - - - SwissProt - P12259 - - - - - 1q24.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 93360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93360 - Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type - - Disease - - - Disorder - - - - 22152677[PMID] - - kinesin family member 22 - KIF22 - - Kid - OBP-1 - OBP-2 - - - gene with protein product - - - - Ensembl - ENSG00000079616 - - - Genatlas - KIF22 - - - HGNC - 6391 - - - OMIM - 603213 - - - Reactome - Q14807 - - - SwissProt - Q14807 - - - ClinVar - KIF22 - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93358 - Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome - - Disease - - - Disorder - - - - 19110212[PMID] - - discoidin domain receptor tyrosine kinase 2 - DDR2 - - TKT - - - gene with protein product - - - - ClinVar - DDR2 - - - Ensembl - ENSG00000162733 - - - Genatlas - DDR2 - - - HGNC - 2731 - - - IUPHAR - 1844 - - - OMIM - 191311 - - - Reactome - Q16832 - - - SwissProt - Q16832 - - - - - 1q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93357 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93357 - SPONASTRIME dysplasia - - Disease - - - Disorder - - - - 30773278[PMID]_30773277[PMID] - - tonsoku like, DNA repair protein - TONSL - - IKBR - - - gene with protein product - - - - HGNC - 7801 - - - Ensembl - ENSG00000160949 - - - SwissProt - Q96HA7 - - - OMIM - 604546 - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 599082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599082 - CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - 30397230[PMID] - - chromodomain helicase DNA binding protein 3 - CHD3 - - Mi-2a - ZFH - Mi2-ALPHA - - - gene with protein product - - - - HGNC - 1918 - - - Ensembl - ENSG00000170004 - - - SwissProt - Q12873 - - - Reactome - Q12873 - - - OMIM - 602120 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93372 - Familial hypocalciuric hypercalcemia type 1 - - Etiological subtype - - - Subtype of disorder - - - - - - calcium sensing receptor - CASR - - FHH - GPRC2A - NSHPT - severe neonatal hyperparathyroidism - - - gene with protein product - - - - Ensembl - ENSG00000036828 - - - Genatlas - CASR - - - HGNC - 1514 - - - IUPHAR - 54 - - - OMIM - 601199 - - - Reactome - P41180 - - - SwissProt - P41180 - - - ClinVar - CASR - - - - - 3q13.33-q21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 93387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93387 - Brachydactyly type E - - Malformation syndrome - - - Disorder - - - - 12649808[PMID] - - homeobox D13 - HOXD13 - - synpolydactyly - - - gene with protein product - - - - Reactome - P35453 - - - ClinVar - HOXD13 - - - Ensembl - ENSG00000128714 - - - Genatlas - HOXD13 - - - HGNC - 5136 - - - OMIM - 142989 - - - SwissProt - P35453 - - - - - 2q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20170896[PMID] - - parathyroid hormone like hormone - PTHLH - - HHM - PLP - PTHR - PTHRP - osteostatin - parathyroid hormone-like hormone preproprotein - parathyroid hormone-related protein preproprotein - - - gene with protein product - - - - ClinVar - PTHLH - - - Ensembl - ENSG00000087494 - - - Genatlas - PTHLH - - - HGNC - 9607 - - - OMIM - 168470 - - - Reactome - P12272 - - - SwissProt - P12272 - - - - - 12p11.22 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 93388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93388 - Brachydactyly type A1 - - Malformation syndrome - - - Disorder - - - - 25758993[PMID] - - bone morphogenetic protein receptor type 1B - BMPR1B - - ALK6 - CDw293 - - - gene with protein product - - - - Ensembl - ENSG00000138696 - - - Genatlas - BMPR1B - - - HGNC - 1077 - - - IUPHAR - 1789 - - - OMIM - 603248 - - - Reactome - O00238 - - - SwissProt - O00238 - - - ClinVar - BMPR1B - - - - - 4q22.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20683927[PMID] - - growth differentiation factor 5 - GDF5 - - BMP14 - CDMP1 - cartilage-derived morphogenetic protein-1 - - - gene with protein product - - - - ClinVar - GDF5 - - - OMIM - 601146 - - - Reactome - P43026 - - - SwissProt - P43026 - - - Ensembl - ENSG00000125965 - - - Genatlas - GDF5 - - - HGNC - 4220 - - - - - 20q11.22 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 11455389[PMID] - - Indian hedgehog signaling molecule - IHH - - BDA1 - HHG2 - - - gene with protein product - - - - ClinVar - IHH - - - Reactome - Q14623 - - - SwissProt - Q14623 - - - Ensembl - ENSG00000163501 - - - Genatlas - IHH - - - HGNC - 5956 - - - OMIM - 600726 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93384 - Brachydactyly type C - - Malformation syndrome - - - Disorder - - - - 16957682[PMID] - - bone morphogenetic protein receptor type 1B - BMPR1B - - ALK6 - CDw293 - - - gene with protein product - - - - Ensembl - ENSG00000138696 - - - Genatlas - BMPR1B - - - HGNC - 1077 - - - IUPHAR - 1789 - - - OMIM - 603248 - - - Reactome - O00238 - - - SwissProt - O00238 - - - ClinVar - BMPR1B - - - - - 4q22.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 12357473[PMID] - - growth differentiation factor 5 - GDF5 - - BMP14 - CDMP1 - cartilage-derived morphogenetic protein-1 - - - gene with protein product - - - - ClinVar - GDF5 - - - OMIM - 601146 - - - Reactome - P43026 - - - SwissProt - P43026 - - - Ensembl - ENSG00000125965 - - - Genatlas - GDF5 - - - HGNC - 4220 - - - - - 20q11.22 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 93396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93396 - Brachydactyly type A2 - - Malformation syndrome - - - Disorder - - - - 19327734[PMID]_24710560[PMID] - - bone morphogenetic protein 2 - BMP2 - - - - gene with protein product - - - - ClinVar - BMP2 - - - Ensembl - ENSG00000125845 - - - Genatlas - BMP2 - - - HGNC - 1069 - - - OMIM - 112261 - - - Reactome - P12643 - - - SwissProt - P12643 - - - - - 20p12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16014698[PMID] - - growth differentiation factor 5 - GDF5 - - BMP14 - CDMP1 - cartilage-derived morphogenetic protein-1 - - - gene with protein product - - - - ClinVar - GDF5 - - - OMIM - 601146 - - - Reactome - P43026 - - - SwissProt - P43026 - - - Ensembl - ENSG00000125965 - - - Genatlas - GDF5 - - - HGNC - 4220 - - - - - 20q11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 14523231[PMID] - - bone morphogenetic protein receptor type 1B - BMPR1B - - ALK6 - CDw293 - - - gene with protein product - - - - Ensembl - ENSG00000138696 - - - Genatlas - BMPR1B - - - HGNC - 1077 - - - IUPHAR - 1789 - - - OMIM - 603248 - - - Reactome - O00238 - - - SwissProt - O00238 - - - ClinVar - BMPR1B - - - - - 4q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93932 - FG syndrome type 1 - - Disease - - - Disorder - - - - 20301719[PMID]_17334363[PMID] - - mediator complex subunit 12 - MED12 - - CAGH45 - HOPA - KIAA0192 - OKS - OPA1 - TRAP230 - ARC240 - Kto - Kohtalo homolog - - - gene with protein product - - - - Ensembl - ENSG00000184634 - - - Genatlas - MED12 - - - HGNC - 11957 - - - OMIM - 300188 - - - Reactome - Q93074 - - - SwissProt - Q93074 - - - ClinVar - MED12 - - - - - Xq13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93930 - Classic bladder exstrophy - - Clinical subtype - - - Subtype of disorder - - - - 23284286[PMID] - - tumor protein p63 - TP63 - - NBP - OFC8 - SHFM4 - p51 - p53CP - p63 - p73H - p73L - p40 - EEC3 - KET - - - gene with protein product - - - - Ensembl - ENSG00000073282 - - - Genatlas - TP63 - - - HGNC - 15979 - - - OMIM - 603273 - - - Reactome - Q9H3D4 - - - SwissProt - Q9H3D4 - - - ClinVar - TP63 - - - - - 3q28 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 25763902[PMID] - - ISL LIM homeobox 1 - ISL1 - - ISLET1 - Isl-1 - - - gene with protein product - - - - Reactome - P61371 - - - SwissProt - P61371 - - - Ensembl - ENSG00000016082 - - - Genatlas - ISL1 - - - HGNC - 6132 - - - OMIM - 600366 - - - ClinVar - ISL1 - - - - - 5q11.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 93926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93926 - Midline interhemispheric variant of holoprosencephaly - - Clinical subtype - - - Subtype of disorder - - - - 29785796[PMID] - - STIL centriolar assembly protein - STIL - - MCPH7 - - - gene with protein product - - - - ClinVar - STIL - - - Reactome - Q15468 - - - Ensembl - ENSG00000123473 - - - Genatlas - STIL - - - HGNC - 10879 - - - OMIM - 181590 - - - SwissProt - Q15468 - - - - - 1p33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - patched 1 - PTCH1 - - BCNS - SLC65B1 - - - gene with protein product - - - - ClinVar - PTCH1 - - - Ensembl - ENSG00000185920 - - - Genatlas - PTCH1 - - - HGNC - 9585 - - - OMIM - 601309 - - - Reactome - Q13635 - - - SwissProt - Q13635 - - - - - 9q22.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - sonic hedgehog signaling molecule - SHH - - HHG1 - MCOPCB5 - SMMCI - TPT - TPTPS - - - gene with protein product - - - - ClinVar - SHH - - - Ensembl - ENSG00000164690 - - - Genatlas - SHH - - - HGNC - 10848 - - - OMIM - 600725 - - - Reactome - Q15465 - - - SwissProt - Q15465 - - - - - 7q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - SIX homeobox 3 - SIX3 - - - - gene with protein product - - - - Ensembl - ENSG00000138083 - - - Genatlas - SIX3 - - - HGNC - 10889 - - - OMIM - 603714 - - - SwissProt - O95343 - - - ClinVar - SIX3 - - - Reactome - O95343 - - - - - 2p21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - TGFB induced factor homeobox 1 - TGIF1 - - - - gene with protein product - - - - ClinVar - TGIF1 - - - Ensembl - ENSG00000177426 - - - Genatlas - TGIF1 - - - HGNC - 11776 - - - OMIM - 602630 - - - Reactome - Q15583 - - - SwissProt - Q15583 - - - - - 18p11.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - Zic family member 2 - ZIC2 - - HPE5 - Zinc finger protein of the cerebellum 2 - - - gene with protein product - - - - ClinVar - ZIC2 - - - Ensembl - ENSG00000043355 - - - Genatlas - ZIC2 - - - HGNC - 12873 - - - OMIM - 603073 - - - SwissProt - O95409 - - - - - 13q32.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - GLI family zinc finger 2 - GLI2 - - HPE9 - THP1 - THP2 - tax helper protein 1 - tax helper protein 2 - tax-responsive element-2 holding protein - - - gene with protein product - - - - Ensembl - ENSG00000074047 - - - Genatlas - GLI2 - - - HGNC - 4318 - - - OMIM - 165230 - - - Reactome - P10070 - - - SwissProt - P10070 - - - ClinVar - GLI2 - - - - - 2q14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - cripto, EGF-CFC family member - CRIPTO - - CR - Cripto-1 - CR-1 - - - gene with protein product - - - - Reactome - P13385 - - - SwissProt - P13385 - - - Ensembl - ENSG00000241186 - - - Genatlas - TDGF1 - - - HGNC - 11701 - - - OMIM - 187395 - - - ClinVar - TDGF1 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - forkhead box H1 - FOXH1 - - FAST1 - forkhead activin signal transducer-1 - - - gene with protein product - - - - ClinVar - FOXH1 - - - Ensembl - ENSG00000160973 - - - Genatlas - FOXH1 - - - HGNC - 3814 - - - OMIM - 603621 - - - Reactome - O75593 - - - SwissProt - O75593 - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - fibroblast growth factor 8 - FGF8 - - AIGF - androgen-induced growth factor - - - gene with protein product - - - - SwissProt - P55075 - - - Ensembl - ENSG00000107831 - - - Genatlas - FGF8 - - - HGNC - 3686 - - - OMIM - 600483 - - - Reactome - P55075 - - - ClinVar - FGF8 - - - - - 10q24.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - dispatched RND transporter family member 1 - DISP1 - - DISPA - DKFZP434I0428 - MGC13130 - MGC16796 - - - gene with protein product - - - - Ensembl - ENSG00000154309 - - - Genatlas - DISP1 - - - HGNC - 19711 - - - OMIM - 607502 - - - SwissProt - Q96F81 - - - ClinVar - DISP1 - - - - - 1q41 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - cell adhesion associated, oncogene regulated - CDON - - CDO - CDON1 - ORCAM - cell adhesion molecule-related/down-regulated by oncogenes - Ihog - - - gene with protein product - - - - Ensembl - ENSG00000064309 - - - ClinVar - CDON - - - Genatlas - CDON - - - HGNC - 17104 - - - OMIM - 608707 - - - Reactome - Q4KMG0 - - - SwissProt - Q4KMG0 - - - - - 11q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - nodal growth differentiation factor - NODAL - - - - gene with protein product - - - - ClinVar - NODAL - - - Ensembl - ENSG00000156574 - - - Genatlas - NODAL - - - HGNC - 7865 - - - OMIM - 601265 - - - Reactome - Q96S42 - - - SwissProt - Q96S42 - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - delta like canonical Notch ligand 1 - DLL1 - - - - gene with protein product - - - - ClinVar - DLL1 - - - Ensembl - ENSG00000198719 - - - Genatlas - DLL1 - - - HGNC - 2908 - - - OMIM - 606582 - - - Reactome - O00548 - - - SwissProt - O00548 - - - - - 6q27 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - growth arrest specific 1 - GAS1 - - Growth arrest-specific gene-1 - - - gene with protein product - - - - ClinVar - GAS1 - - - Ensembl - ENSG00000180447 - - - Genatlas - GAS1 - - - HGNC - 4165 - - - OMIM - 139185 - - - Reactome - P54826 - - - SwissProt - P54826 - - - - - 9q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93924 - Lobar holoprosencephaly - - Clinical subtype - - - Subtype of disorder - - - - 29785796[PMID] - - STIL centriolar assembly protein - STIL - - MCPH7 - - - gene with protein product - - - - ClinVar - STIL - - - Reactome - Q15468 - - - Ensembl - ENSG00000123473 - - - Genatlas - STIL - - - HGNC - 10879 - - - OMIM - 181590 - - - SwissProt - Q15468 - - - - - 1p33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27363716[PMID] - - fibroblast growth factor receptor 1 - FGFR1 - - BFGFR - CD331 - CEK - FLG - H2 - H3 - H4 - H5 - N-SAM - Pfeiffer syndrome - - - gene with protein product - - - - Ensembl - ENSG00000077782 - - - Genatlas - FGFR1 - - - HGNC - 3688 - - - IUPHAR - 1808 - - - OMIM - 136350 - - - Reactome - P11362 - - - SwissProt - P11362 - - - ClinVar - FGFR1 - - - - - 8p11.23 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - patched 1 - PTCH1 - - BCNS - SLC65B1 - - - gene with protein product - - - - ClinVar - PTCH1 - - - Ensembl - ENSG00000185920 - - - Genatlas - PTCH1 - - - HGNC - 9585 - - - OMIM - 601309 - - - Reactome - Q13635 - - - SwissProt - Q13635 - - - - - 9q22.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - sonic hedgehog signaling molecule - SHH - - HHG1 - MCOPCB5 - SMMCI - TPT - TPTPS - - - gene with protein product - - - - ClinVar - SHH - - - Ensembl - ENSG00000164690 - - - Genatlas - SHH - - - HGNC - 10848 - - - OMIM - 600725 - - - Reactome - Q15465 - - - SwissProt - Q15465 - - - - - 7q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - SIX homeobox 3 - SIX3 - - - - gene with protein product - - - - Ensembl - ENSG00000138083 - - - Genatlas - SIX3 - - - HGNC - 10889 - - - OMIM - 603714 - - - SwissProt - O95343 - - - ClinVar - SIX3 - - - Reactome - O95343 - - - - - 2p21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - TGFB induced factor homeobox 1 - TGIF1 - - - - gene with protein product - - - - ClinVar - TGIF1 - - - Ensembl - ENSG00000177426 - - - Genatlas - TGIF1 - - - HGNC - 11776 - - - OMIM - 602630 - - - Reactome - Q15583 - - - SwissProt - Q15583 - - - - - 18p11.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - Zic family member 2 - ZIC2 - - HPE5 - Zinc finger protein of the cerebellum 2 - - - gene with protein product - - - - ClinVar - ZIC2 - - - Ensembl - ENSG00000043355 - - - Genatlas - ZIC2 - - - HGNC - 12873 - - - OMIM - 603073 - - - SwissProt - O95409 - - - - - 13q32.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - GLI family zinc finger 2 - GLI2 - - HPE9 - THP1 - THP2 - tax helper protein 1 - tax helper protein 2 - tax-responsive element-2 holding protein - - - gene with protein product - - - - Ensembl - ENSG00000074047 - - - Genatlas - GLI2 - - - HGNC - 4318 - - - OMIM - 165230 - - - Reactome - P10070 - - - SwissProt - P10070 - - - ClinVar - GLI2 - - - - - 2q14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - cripto, EGF-CFC family member - CRIPTO - - CR - Cripto-1 - CR-1 - - - gene with protein product - - - - Reactome - P13385 - - - SwissProt - P13385 - - - Ensembl - ENSG00000241186 - - - Genatlas - TDGF1 - - - HGNC - 11701 - - - OMIM - 187395 - - - ClinVar - TDGF1 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - forkhead box H1 - FOXH1 - - FAST1 - forkhead activin signal transducer-1 - - - gene with protein product - - - - ClinVar - FOXH1 - - - Ensembl - ENSG00000160973 - - - Genatlas - FOXH1 - - - HGNC - 3814 - - - OMIM - 603621 - - - Reactome - O75593 - - - SwissProt - O75593 - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - fibroblast growth factor 8 - FGF8 - - AIGF - androgen-induced growth factor - - - gene with protein product - - - - SwissProt - P55075 - - - Ensembl - ENSG00000107831 - - - Genatlas - FGF8 - - - HGNC - 3686 - - - OMIM - 600483 - - - Reactome - P55075 - - - ClinVar - FGF8 - - - - - 10q24.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - dispatched RND transporter family member 1 - DISP1 - - DISPA - DKFZP434I0428 - MGC13130 - MGC16796 - - - gene with protein product - - - - Ensembl - ENSG00000154309 - - - Genatlas - DISP1 - - - HGNC - 19711 - - - OMIM - 607502 - - - SwissProt - Q96F81 - - - ClinVar - DISP1 - - - - - 1q41 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - cell adhesion associated, oncogene regulated - CDON - - CDO - CDON1 - ORCAM - cell adhesion molecule-related/down-regulated by oncogenes - Ihog - - - gene with protein product - - - - Ensembl - ENSG00000064309 - - - ClinVar - CDON - - - Genatlas - CDON - - - HGNC - 17104 - - - OMIM - 608707 - - - Reactome - Q4KMG0 - - - SwissProt - Q4KMG0 - - - - - 11q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - nodal growth differentiation factor - NODAL - - - - gene with protein product - - - - ClinVar - NODAL - - - Ensembl - ENSG00000156574 - - - Genatlas - NODAL - - - HGNC - 7865 - - - OMIM - 601265 - - - Reactome - Q96S42 - - - SwissProt - Q96S42 - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - delta like canonical Notch ligand 1 - DLL1 - - - - gene with protein product - - - - ClinVar - DLL1 - - - Ensembl - ENSG00000198719 - - - Genatlas - DLL1 - - - HGNC - 2908 - - - OMIM - 606582 - - - Reactome - O00548 - - - SwissProt - O00548 - - - - - 6q27 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - growth arrest specific 1 - GAS1 - - Growth arrest-specific gene-1 - - - gene with protein product - - - - ClinVar - GAS1 - - - Ensembl - ENSG00000180447 - - - Genatlas - GAS1 - - - HGNC - 4165 - - - OMIM - 139185 - - - Reactome - P54826 - - - SwissProt - P54826 - - - - - 9q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93925 - Alobar holoprosencephaly - - Clinical subtype - - - Subtype of disorder - - - - 29785796[PMID] - - STIL centriolar assembly protein - STIL - - MCPH7 - - - gene with protein product - - - - ClinVar - STIL - - - Reactome - Q15468 - - - Ensembl - ENSG00000123473 - - - Genatlas - STIL - - - HGNC - 10879 - - - OMIM - 181590 - - - SwissProt - Q15468 - - - - - 1p33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33820834[PMID] - - phospholipase C eta 1 - PLCH1 - - DKFZp434C1372 - MGC117152 - KIAA1069 - 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1 - PLCeta1 - - - gene with protein product - - - - IUPHAR - 1414 - - - HGNC - 29185 - - - Ensembl - ENSG00000114805 - - - OMIM - 612835 - - - SwissProt - Q4KWH8 - - - - - 3q25.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31334757[PMID] - - STAG2 cohesin complex component - STAG2 - - sister chromatid cohesion 3 homolog (S. cerevisiae) B - SA2 stromalin - SA2 - SCC3B - SA-2 - Cohesin subunit SA-2 - - - gene with protein product - - - - Genatlas - STAG2 - - - OMIM - 300826 - - - SwissProt - Q8N3U4 - - - ClinVar - STAG2 - - - Ensembl - ENSG00000101972 - - - Reactome - Q8N3U4 - - - HGNC - 11355 - - - - - Xq25 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - patched 1 - PTCH1 - - BCNS - SLC65B1 - - - gene with protein product - - - - ClinVar - PTCH1 - - - Ensembl - ENSG00000185920 - - - Genatlas - PTCH1 - - - HGNC - 9585 - - - OMIM - 601309 - - - Reactome - Q13635 - - - SwissProt - Q13635 - - - - - 9q22.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - sonic hedgehog signaling molecule - SHH - - HHG1 - MCOPCB5 - SMMCI - TPT - TPTPS - - - gene with protein product - - - - ClinVar - SHH - - - Ensembl - ENSG00000164690 - - - Genatlas - SHH - - - HGNC - 10848 - - - OMIM - 600725 - - - Reactome - Q15465 - - - SwissProt - Q15465 - - - - - 7q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - SIX homeobox 3 - SIX3 - - - - gene with protein product - - - - Ensembl - ENSG00000138083 - - - Genatlas - SIX3 - - - HGNC - 10889 - - - OMIM - 603714 - - - SwissProt - O95343 - - - ClinVar - SIX3 - - - Reactome - O95343 - - - - - 2p21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - TGFB induced factor homeobox 1 - TGIF1 - - - - gene with protein product - - - - ClinVar - TGIF1 - - - Ensembl - ENSG00000177426 - - - Genatlas - TGIF1 - - - HGNC - 11776 - - - OMIM - 602630 - - - Reactome - Q15583 - - - SwissProt - Q15583 - - - - - 18p11.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - Zic family member 2 - ZIC2 - - HPE5 - Zinc finger protein of the cerebellum 2 - - - gene with protein product - - - - ClinVar - ZIC2 - - - Ensembl - ENSG00000043355 - - - Genatlas - ZIC2 - - - HGNC - 12873 - - - OMIM - 603073 - - - SwissProt - O95409 - - - - - 13q32.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - GLI family zinc finger 2 - GLI2 - - HPE9 - THP1 - THP2 - tax helper protein 1 - tax helper protein 2 - tax-responsive element-2 holding protein - - - gene with protein product - - - - Ensembl - ENSG00000074047 - - - Genatlas - GLI2 - - - HGNC - 4318 - - - OMIM - 165230 - - - Reactome - P10070 - - - SwissProt - P10070 - - - ClinVar - GLI2 - - - - - 2q14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - cripto, EGF-CFC family member - CRIPTO - - CR - Cripto-1 - CR-1 - - - gene with protein product - - - - Reactome - P13385 - - - SwissProt - P13385 - - - Ensembl - ENSG00000241186 - - - Genatlas - TDGF1 - - - HGNC - 11701 - - - OMIM - 187395 - - - ClinVar - TDGF1 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - forkhead box H1 - FOXH1 - - FAST1 - forkhead activin signal transducer-1 - - - gene with protein product - - - - ClinVar - FOXH1 - - - Ensembl - ENSG00000160973 - - - Genatlas - FOXH1 - - - HGNC - 3814 - - - OMIM - 603621 - - - Reactome - O75593 - - - SwissProt - O75593 - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - fibroblast growth factor 8 - FGF8 - - AIGF - androgen-induced growth factor - - - gene with protein product - - - - SwissProt - P55075 - - - Ensembl - ENSG00000107831 - - - Genatlas - FGF8 - - - HGNC - 3686 - - - OMIM - 600483 - - - Reactome - P55075 - - - ClinVar - FGF8 - - - - - 10q24.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - dispatched RND transporter family member 1 - DISP1 - - DISPA - DKFZP434I0428 - MGC13130 - MGC16796 - - - gene with protein product - - - - Ensembl - ENSG00000154309 - - - Genatlas - DISP1 - - - HGNC - 19711 - - - OMIM - 607502 - - - SwissProt - Q96F81 - - - ClinVar - DISP1 - - - - - 1q41 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - cell adhesion associated, oncogene regulated - CDON - - CDO - CDON1 - ORCAM - cell adhesion molecule-related/down-regulated by oncogenes - Ihog - - - gene with protein product - - - - Ensembl - ENSG00000064309 - - - ClinVar - CDON - - - Genatlas - CDON - - - HGNC - 17104 - - - OMIM - 608707 - - - Reactome - Q4KMG0 - - - SwissProt - Q4KMG0 - - - - - 11q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - nodal growth differentiation factor - NODAL - - - - gene with protein product - - - - ClinVar - NODAL - - - Ensembl - ENSG00000156574 - - - Genatlas - NODAL - - - HGNC - 7865 - - - OMIM - 601265 - - - Reactome - Q96S42 - - - SwissProt - Q96S42 - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - delta like canonical Notch ligand 1 - DLL1 - - - - gene with protein product - - - - ClinVar - DLL1 - - - Ensembl - ENSG00000198719 - - - Genatlas - DLL1 - - - HGNC - 2908 - - - OMIM - 606582 - - - Reactome - O00548 - - - SwissProt - O00548 - - - - - 6q27 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - growth arrest specific 1 - GAS1 - - Growth arrest-specific gene-1 - - - gene with protein product - - - - ClinVar - GAS1 - - - Ensembl - ENSG00000180447 - - - Genatlas - GAS1 - - - HGNC - 4165 - - - OMIM - 139185 - - - Reactome - P54826 - - - SwissProt - P54826 - - - - - 9q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93921 - Full schwannomatosis - - Disease - - - Disorder - - - - 23401320[PMID] - - NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor - NF2 - - Merlin - moesin-ezrin-radixin like - schwannomin - ACN - BANF - SCH - merlin-1 - bilateral acoustic neurofibromatosis - merlin - - - gene with protein product - - - - Ensembl - ENSG00000186575 - - - Genatlas - NF2 - - - HGNC - 7773 - - - OMIM - 607379 - - - Reactome - P35240 - - - SwissProt - P35240 - - - ClinVar - NF2 - - - - - 22q12.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 17357086[PMID]_23401320[PMID] - - SWI/SNF related BAF chromatin remodeling complex subunit B1 - SMARCB1 - - BAF47 - Ini1 - PPP1R144 - RDT - Sfh1p - Snr1 - hSNFS - integrase interactor 1 - malignant rhabdoid tumor suppressor - protein phosphatase 1, regulatory subunit 144 - sucrose nonfermenting, yeast, homolog-like 1 - INI-1 - SNF5 - - - gene with protein product - - - - ClinVar - SMARCB1 - - - Reactome - Q12824 - - - SwissProt - Q12824 - - - Ensembl - ENSG00000099956 - - - Genatlas - SMARCB1 - - - HGNC - 11103 - - - OMIM - 601607 - - - - - 22q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24763291[PMID] - - coenzyme Q6, monooxygenase - COQ6 - - CGI-10 - - - gene with protein product - - - - ClinVar - COQ6 - - - Ensembl - ENSG00000119723 - - - Genatlas - COQ6 - - - HGNC - 20233 - - - OMIM - 614647 - - - Reactome - Q9Y2Z9 - - - SwissProt - Q9Y2Z9 - - - - - 14q24.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 24362817[PMID] - - leucine zipper like post translational regulator 1 - LZTR1 - - BTBD29 - LZTR-1 - - - gene with protein product - - - - SwissProt - Q8N653 - - - Ensembl - ENSG00000099949 - - - Genatlas - LZTR1 - - - HGNC - 6742 - - - OMIM - 600574 - - - ClinVar - LZTR1 - - - - - 22q11.21 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 93952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93952 - X-linked intellectual disability, Hedera type - - Disease - - - Disorder - - - - 15746149[PMID] - - ATPase H+ transporting accessory protein 2 - ATP6AP2 - - APT6M8-9 - ATP6M8-9 - M8-9 - PRR - RENR - prorenin receptor - renin receptor - (P)RR - V-ATPase M8.9 subunit - - - gene with protein product - - - - Ensembl - ENSG00000182220 - - - Genatlas - ATP6AP2 - - - HGNC - 18305 - - - OMIM - 300556 - - - Reactome - O75787 - - - SwissProt - O75787 - - - ClinVar - ATP6AP2 - - - - - Xp11.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 595109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595109 - Atypical Timothy syndrome - - Clinical subtype - - - Subtype of disorder - - - - 34079780[PMID] - - calcium voltage-gated channel subunit alpha1 C - CACNA1C - - CACH2 - CACN2 - Cav1.2 - LQT8 - TS - - - gene with protein product - - - - ClinVar - CACNA1C - - - Ensembl - ENSG00000151067 - - - Genatlas - CACNA1C - - - HGNC - 1390 - - - IUPHAR - 529 - - - OMIM - 114205 - - - Reactome - Q13936 - - - SwissProt - Q13936 - - - - - 12p13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93950 - X-linked intellectual disability, Sutherland-Haan type - - Clinical subtype - - - Subtype of disorder - - - - - - polyglutamine binding protein 1 - PQBP1 - - - - gene with protein product - - - - Reactome - O60828 - - - Ensembl - ENSG00000102103 - - - Genatlas - PQBP1 - - - HGNC - 9330 - - - OMIM - 300463 - - - SwissProt - O60828 - - - ClinVar - PQBP1 - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 595098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595098 - Timothy syndrome type 1 - - Clinical subtype - - - Subtype of disorder - - - - 15454078[PMID] - - calcium voltage-gated channel subunit alpha1 C - CACNA1C - - CACH2 - CACN2 - Cav1.2 - LQT8 - TS - - - gene with protein product - - - - ClinVar - CACNA1C - - - Ensembl - ENSG00000151067 - - - Genatlas - CACNA1C - - - HGNC - 1390 - - - IUPHAR - 529 - - - OMIM - 114205 - - - Reactome - Q13936 - - - SwissProt - Q13936 - - - - - 12p13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93947 - X-linked intellectual disability, Golabi-Ito-Hall type - - Clinical subtype - - - Subtype of disorder - - - - - - polyglutamine binding protein 1 - PQBP1 - - - - gene with protein product - - - - Reactome - O60828 - - - Ensembl - ENSG00000102103 - - - Genatlas - PQBP1 - - - HGNC - 9330 - - - OMIM - 300463 - - - SwissProt - O60828 - - - ClinVar - PQBP1 - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 595105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595105 - Timothy syndrome type 2 - - Clinical subtype - - - Subtype of disorder - - - - 34079780[PMID] - - calcium voltage-gated channel subunit alpha1 C - CACNA1C - - CACH2 - CACN2 - Cav1.2 - LQT8 - TS - - - gene with protein product - - - - ClinVar - CACNA1C - - - Ensembl - ENSG00000151067 - - - Genatlas - CACNA1C - - - HGNC - 1390 - - - IUPHAR - 529 - - - OMIM - 114205 - - - Reactome - Q13936 - - - SwissProt - Q13936 - - - - - 12p13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93946 - Hamel cerebro-palato-cardiac syndrome - - Clinical subtype - - - Subtype of disorder - - - - - - polyglutamine binding protein 1 - PQBP1 - - - - gene with protein product - - - - Reactome - O60828 - - - Ensembl - ENSG00000102103 - - - Genatlas - PQBP1 - - - HGNC - 9330 - - - OMIM - 300463 - - - SwissProt - O60828 - - - ClinVar - PQBP1 - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93945 - X-linked intellectual disability, Porteous type - - Clinical subtype - - - Subtype of disorder - - - - - - polyglutamine binding protein 1 - PQBP1 - - - - gene with protein product - - - - Reactome - O60828 - - - Ensembl - ENSG00000102103 - - - Genatlas - PQBP1 - - - HGNC - 9330 - - - OMIM - 300463 - - - SwissProt - O60828 - - - ClinVar - PQBP1 - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93616 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93616 - Hemoglobin H disease - - Clinical subtype - - - Subtype of disorder - - - - - - hemoglobin subunit alpha 2 - HBA2 - - HBA-T2 - - - gene with protein product - - - - ClinVar - HBA2 - - - Ensembl - ENSG00000188536 - - - Genatlas - HBA2 - - - HGNC - 4824 - - - OMIM - 141850 - - - Reactome - P69905 - - - SwissProt - P69905 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - hemoglobin subunit alpha 1 - HBA1 - - HBA-T3 - - - gene with protein product - - - - ClinVar - HBA1 - - - Ensembl - ENSG00000206172 - - - Genatlas - HBA1 - - - HGNC - 4823 - - - OMIM - 141800 - - - Reactome - P69905 - - - SwissProt - P69905 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93622 - Dent disease type 1 - - Clinical subtype - - - Subtype of disorder - - - - 22876375[PMID]_21305656[PMID]_18540256[PMID] - - chloride voltage-gated channel 5 - CLCN5 - - CLC5 - ClC-5 - DENTS - Dent disease - XLRH - XRN - hCIC-K2 - hClC-K2 - - - gene with protein product - - - - Ensembl - ENSG00000171365 - - - Genatlas - CLCN5 - - - HGNC - 2023 - - - OMIM - 300008 - - - Reactome - P51795 - - - SwissProt - P51795 - - - IUPHAR - 704 - - - ClinVar - CLCN5 - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 93623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93623 - Dent disease type 2 - - Clinical subtype - - - Subtype of disorder - - - - 22876375[PMID] - - OCRL inositol polyphosphate-5-phosphatase - OCRL - - OCRL1 - Dent-2 - Dent disease 2 - - - gene with protein product - - - - IUPHAR - 1460 - - - ClinVar - OCRL - - - Ensembl - ENSG00000122126 - - - Genatlas - OCRL - - - HGNC - 8108 - - - OMIM - 300535 - - - Reactome - Q01968 - - - SwissProt - Q01968 - - - - - Xq26.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 93591 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93591 - Infantile nephronophthisis - - Clinical subtype - - - Subtype of disorder - - - - 26184788[PMID]_18371931[PMID] - - nephrocystin 3 - NPHP3 - - CFAP31 - FLJ30691 - FLJ36696 - KIAA2000 - MKS7 - Meckel syndrome, type 7 - NPH3 - SLSN3 - cilia and flagella associated protein 31 - - - gene with protein product - - - - ClinVar - NPHP3 - - - Ensembl - ENSG00000113971 - - - Genatlas - NPHP3 - - - HGNC - 7907 - - - OMIM - 608002 - - - Reactome - Q7Z494 - - - SwissProt - Q7Z494 - - - - - 3q22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - inversin - INVS - - nephrocystin 2 - - - gene with protein product - - - - ClinVar - INVS - - - Ensembl - ENSG00000119509 - - - Genatlas - INVS - - - HGNC - 17870 - - - OMIM - 243305 - - - SwissProt - Q9Y283 - - - - - 9q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18199800[PMID] - - NIMA related kinase 8 - NEK8 - - NPHP9 - - - gene with protein product - - - - ClinVar - NEK8 - - - Reactome - Q86SG6 - - - Ensembl - ENSG00000160602 - - - Genatlas - NEK8 - - - HGNC - 13387 - - - IUPHAR - 2123 - - - OMIM - 609799 - - - SwissProt - Q86SG6 - - - - - 17q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21258341[PMID] - - tetratricopeptide repeat domain 21B - TTC21B - - CFAP60 - intraflagellar transport 139 homolog - Nephronophthisis type12 - IFT139 - tetratricopeptide repeat-containing hedgehog modulator-1 - FLJ11457 - IFT139B - JBTS11 - NPHP12 - THM1 - FAP60 - FLA17 - - - gene with protein product - - - - ClinVar - TTC21B - - - Ensembl - ENSG00000123607 - - - Genatlas - TTC21B - - - HGNC - 25660 - - - OMIM - 612014 - - - Reactome - Q7Z4L5 - - - SwissProt - Q7Z4L5 - - - - - 2q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23793029[PMID] - - ankyrin repeat and sterile alpha motif domain containing 6 - ANKS6 - - FLJ36928 - NPHP16 - - - gene with protein product - - - - Ensembl - ENSG00000165138 - - - Genatlas - ANKS6 - - - HGNC - 26724 - - - OMIM - 615370 - - - SwissProt - Q68DC2 - - - ClinVar - ANKS6 - - - - - 9q22.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24882706[PMID] - - centrosomal protein 83 - CEP83 - - NPHP18 - NY-REN-58 - - - gene with protein product - - - - ClinVar - CEP83 - - - Reactome - Q9Y592 - - - SwissProt - Q9Y592 - - - Ensembl - ENSG00000173588 - - - Genatlas - CEP83 - - - HGNC - 17966 - - - OMIM - 615847 - - - - - 12q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22863007[PMID] - - zinc finger protein 423 - ZNF423 - - hOAZ - Early B-cell factor associated zinc finger protein - Ebfaz - JBTS19 - KIAA0760 - NPHP14 - OAZ - OLF-1/EBF associated zinc finger gene - Roaz - Zfp104 - Smad- and Olf-interacting zinc finger protein - early B-cell factor associated zinc finger protein - - - gene with protein product - - - - Ensembl - ENSG00000102935 - - - Genatlas - ZNF423 - - - HGNC - 16762 - - - OMIM - 604557 - - - SwissProt - Q2M1K9 - - - ClinVar - ZNF423 - - - - - 16q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93592 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93592 - Juvenile nephronophthisis - - Clinical subtype - - - Subtype of disorder - - - - - - nephrocystin 1 - NPHP1 - - JBTS4 - SLSN1 - - - gene with protein product - - - - ClinVar - NPHP1 - - - Ensembl - ENSG00000144061 - - - Genatlas - NPHP1 - - - HGNC - 7905 - - - OMIM - 607100 - - - Reactome - O15259 - - - SwissProt - O15259 - - - - - 2q13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - nephrocystin 4 - NPHP4 - - KIAA0673 - POC10 - POC10 centriolar protein homolog (Chlamydomonas) - SLSN4 - nephroretinin - - - gene with protein product - - - - ClinVar - NPHP4 - - - Ensembl - ENSG00000131697 - - - Genatlas - NPHP4 - - - HGNC - 19104 - - - OMIM - 607215 - - - Reactome - O75161 - - - SwissProt - O75161 - - - - - 1p36.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17618285[PMID] - - GLIS family zinc finger 2 - GLIS2 - - NPHP7 - nephrocystin-7 - Gli-similar 2 - - - gene with protein product - - - - Reactome - Q9BZE0 - - - ClinVar - GLIS2 - - - Ensembl - ENSG00000126603 - - - Genatlas - GLIS2 - - - HGNC - 29450 - - - OMIM - 608539 - - - SwissProt - Q9BZE0 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22019273[PMID] - - WD repeat domain 19 - WDR19 - - Pwdmp - intraflagellar transport 144 homolog (Chlamydomonas) - CFAP66 - DYF-2 - FLJ23127 - IFT144 - KIAA1638 - NPHP13 - ORF26 - Oseg6 - FAP66 - - - gene with protein product - - - - ClinVar - WDR19 - - - Reactome - Q8NEZ3 - - - SwissProt - Q8NEZ3 - - - Ensembl - ENSG00000157796 - - - Genatlas - WDR19 - - - HGNC - 18340 - - - OMIM - 608151 - - - - - 4p14 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23793029[PMID] - - ankyrin repeat and sterile alpha motif domain containing 6 - ANKS6 - - FLJ36928 - NPHP16 - - - gene with protein product - - - - Ensembl - ENSG00000165138 - - - Genatlas - ANKS6 - - - HGNC - 26724 - - - OMIM - 615370 - - - SwissProt - Q68DC2 - - - ClinVar - ANKS6 - - - - - 9q22.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28089251[PMID] - - mitogen-activated protein kinase binding protein 1 - MAPKBP1 - - KIAA0596 - NPHP20 - - - gene with protein product - - - - ClinVar - MAPKBP1 - - - HGNC - 29536 - - - Ensembl - ENSG00000137802 - - - SwissProt - O60336 - - - OMIM - 616786 - - - Genatlas - MAPKBP1 - - - Reactome - O60336 - - - - - 15q15.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 30609407[PMID] - - ADAM metallopeptidase with thrombospondin type 1 motif 9 - ADAMTS9 - - KIAA1312 - - - gene with protein product - - - - HGNC - 13202 - - - Ensembl - ENSG00000163638 - - - SwissProt - Q9P2N4 - - - Reactome - Q9P2N4 - - - IUPHAR - 1682 - - - OMIM - 605421 - - - - - 3p14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93589 - Late-onset nephronophthisis - - Clinical subtype - - - Subtype of disorder - - - - - - nephrocystin 3 - NPHP3 - - CFAP31 - FLJ30691 - FLJ36696 - KIAA2000 - MKS7 - Meckel syndrome, type 7 - NPH3 - SLSN3 - cilia and flagella associated protein 31 - - - gene with protein product - - - - ClinVar - NPHP3 - - - Ensembl - ENSG00000113971 - - - Genatlas - NPHP3 - - - HGNC - 7907 - - - OMIM - 608002 - - - Reactome - Q7Z494 - - - SwissProt - Q7Z494 - - - - - 3q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20179356[PMID] - - X-prolyl aminopeptidase 3 - XPNPEP3 - - APP3 - ICP55 - Intermediate Cleaving Peptidase 55 - NPHPL1 - - - gene with protein product - - - - IUPHAR - 1580 - - - Ensembl - ENSG00000196236 - - - Genatlas - XPNPEP3 - - - HGNC - 28052 - - - OMIM - 613553 - - - SwissProt - Q9NQH7 - - - ClinVar - XPNPEP3 - - - Reactome - Q9NQH7 - - - - - 22q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28089251[PMID] - - mitogen-activated protein kinase binding protein 1 - MAPKBP1 - - KIAA0596 - NPHP20 - - - gene with protein product - - - - ClinVar - MAPKBP1 - - - HGNC - 29536 - - - Ensembl - ENSG00000137802 - - - SwissProt - O60336 - - - OMIM - 616786 - - - Genatlas - MAPKBP1 - - - Reactome - O60336 - - - - - 15q15.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 93598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93598 - Primary hyperoxaluria type 1 - - Clinical subtype - - - Subtype of disorder - - - - - - alanine--glyoxylate aminotransferase - AGXT - - TLH6 - AGT - AGT1 - AGXT1 - L-alanine: glyoxylate aminotransferase 1 - PH1 - SPT - glycolicaciduria - oxalosis I - primary hyperoxaluria type 1 - serine:pyruvate aminotransferase - Ser-PyrAT - - - gene with protein product - - - - Ensembl - ENSG00000172482 - - - Genatlas - AGXT - - - HGNC - 341 - - - OMIM - 604285 - - - Reactome - P21549 - - - SwissProt - P21549 - - - ClinVar - AGXT - - - - - 2q37.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 596008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596008 - Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis - - Clinical subtype - - - Subtype of disorder - - - - 20301592[PMID] - - fibroblast growth factor receptor 2 - FGFR2 - - CD332 - CEK3 - Crouzon syndrome - ECT1 - K-SAM - Pfeiffer syndrome - TK14 - TK25 - - - gene with protein product - - - - Ensembl - ENSG00000066468 - - - Genatlas - FGFR2 - - - HGNC - 3689 - - - IUPHAR - 1809 - - - OMIM - 176943 - - - Reactome - P21802 - - - SwissProt - P21802 - - - ClinVar - FGFR2 - - - - - 10q26.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93583 - Congenital thrombotic thrombocytopenic purpura - - Clinical subtype - - - Subtype of disorder - - - - 25587650[PMID] - - ADAM metallopeptidase with thrombospondin type 1 motif 13 - ADAMTS13 - - DKFZp434C2322 - FLJ42993 - MGC118899 - MGC118900 - TTP - VWFCP - vWF-CP - - - gene with protein product - - - - ClinVar - ADAMTS13 - - - Genatlas - ADAMTS13 - - - HGNC - 1366 - - - OMIM - 604134 - - - Reactome - Q76LX8 - - - SwissProt - Q76LX8 - - - IUPHAR - 1685 - - - Ensembl - ENSG00000160323 - - - - - 9q34.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 93610 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93610 - Distal renal tubular acidosis with anemia - - Clinical subtype - - - Subtype of disorder - - - - - - solute carrier family 4 member 1 (Diego blood group) - SLC4A1 - - CD233 - FR - Froese blood group - RTA1A - SW - Swann blood group - WR - Wright blood group - EMPB3 - Band 3 anion transport protein - - - gene with protein product - - - - ClinVar - SLC4A1 - - - IUPHAR - 904 - - - OMIM - 109270 - - - Reactome - P02730 - - - SwissProt - P02730 - - - Ensembl - ENSG00000004939 - - - Genatlas - SLC4A1 - - - HGNC - 11027 - - - - - 17q21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 596759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596759 - Combined immunodeficiency due to RELA haploinsufficiency - - Disease - - - Disorder - - - - 32969189[PMID]_28600438[PMID] - - RELA proto-oncogene, NF-kB subunit - RELA - - p65 - - - gene with protein product - - - - ClinVar - RELA - - - IUPHAR - 3280 - - - Ensembl - ENSG00000173039 - - - Genatlas - RELA - - - HGNC - 9955 - - - OMIM - 164014 - - - Reactome - Q04206 - - - SwissProt - Q04206 - - - - - 11q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93608 - Autosomal dominant distal renal tubular acidosis - - Clinical subtype - - - Subtype of disorder - - - - - - solute carrier family 4 member 1 (Diego blood group) - SLC4A1 - - CD233 - FR - Froese blood group - RTA1A - SW - Swann blood group - WR - Wright blood group - EMPB3 - Band 3 anion transport protein - - - gene with protein product - - - - ClinVar - SLC4A1 - - - IUPHAR - 904 - - - OMIM - 109270 - - - Reactome - P02730 - - - SwissProt - P02730 - - - Ensembl - ENSG00000004939 - - - Genatlas - SLC4A1 - - - HGNC - 11027 - - - - - 17q21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93607 - Autosomal recessive proximal renal tubular acidosis - - Clinical subtype - - - Subtype of disorder - - - - - - solute carrier family 4 member 4 - SLC4A4 - - HNBC1 - NBC1 - NBC2 - hhNMC - pNBC - kNBC1 - kidney type Na+/HCO3- cotransporter - NBCe1 - Electrogenic sodium bicarbonate cotransporter 1 - KNBC - pancreatic sodium bicarbonate cotransporter - - - gene with protein product - - - - IUPHAR - 908 - - - Ensembl - ENSG00000080493 - - - Genatlas - SLC4A4 - - - HGNC - 11030 - - - OMIM - 603345 - - - Reactome - Q9Y6R1 - - - SwissProt - Q9Y6R1 - - - ClinVar - SLC4A4 - - - - - 4q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93613 - Cystinuria type B - - Etiological subtype - - - Subtype of disorder - - - - 21255007[PMID] - - solute carrier family 7 member 9 - SLC7A9 - - BAT1 - b(0,+)-type amino acid transporter 1 - - - gene with protein product - - - - ClinVar - SLC7A9 - - - IUPHAR - 900 - - - Ensembl - ENSG00000021488 - - - Genatlas - SLC7A9 - - - HGNC - 11067 - - - OMIM - 604144 - - - Reactome - P82251 - - - SwissProt - P82251 - - - - - 19q13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93612 - Cystinuria type A - - Etiological subtype - - - Subtype of disorder - - - - 21255007[PMID] - - solute carrier family 3 member 1 - SLC3A1 - - ATR1 - CSNU1 - D2H - NBAT - RBAT - neutral and basic amino acid transport protein rBAT - amino acid transporter 1 - - - gene with protein product - - - - Ensembl - ENSG00000138079 - - - Genatlas - SLC3A1 - - - HGNC - 11025 - - - OMIM - 104614 - - - Reactome - Q07837 - - - SwissProt - Q07837 - - - ClinVar - SLC3A1 - - - IUPHAR - 889 - - - - - 2p21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93602 - Xanthinuria type II - - Etiological subtype - - - Subtype of disorder - - - - 11302742[PMID]_17368066[PMID] - - molybdenum cofactor sulfurase - MOCOS - - FLJ20733 - HMCS - MOS - human molybdenum cofactor sulfurase - MCS - - - gene with protein product - - - - Ensembl - ENSG00000075643 - - - Genatlas - MOCOS - - - HGNC - 18234 - - - OMIM - 613274 - - - Reactome - Q96EN8 - - - SwissProt - Q96EN8 - - - ClinVar - MOCOS - - - - - 18q12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93601 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93601 - Xanthinuria type I - - Etiological subtype - - - Subtype of disorder - - - - 9153281[PMID] - - xanthine dehydrogenase - XDH - - XO - XOR - - - gene with protein product - - - - ClinVar - XDH - - - Ensembl - ENSG00000158125 - - - Genatlas - XDH - - - HGNC - 12805 - - - IUPHAR - 2646 - - - OMIM - 607633 - - - Reactome - P47989 - - - SwissProt - P47989 - - - - - 2p23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93600 - Primary hyperoxaluria type 3 - - Clinical subtype - - - Subtype of disorder - - - - - - 4-hydroxy-2-oxoglutarate aldolase 1 - HOGA1 - - DHDPS2 - FLJ37472 - N-acetylneuraminate pyruvate lyase 2 (putative) - NPL2 - dihydrodipicolinate synthetase homolog 2 (E. coli) - - - gene with protein product - - - - Reactome - Q86XE5 - - - Ensembl - ENSG00000241935 - - - Genatlas - HOGA1 - - - HGNC - 25155 - - - OMIM - 613597 - - - SwissProt - Q86XE5 - - - ClinVar - HOGA1 - - - - - 10q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93599 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93599 - Primary hyperoxaluria type 2 - - Clinical subtype - - - Subtype of disorder - - - - - - glyoxylate and hydroxypyruvate reductase - GRHPR - - PH2 - primary hyperoxaluria type 2 - - - gene with protein product - - - - ClinVar - GRHPR - - - Ensembl - ENSG00000137106 - - - Genatlas - GRHPR - - - HGNC - 4570 - - - OMIM - 604296 - - - Reactome - Q9UBQ7 - - - SwissProt - Q9UBQ7 - - - - - 9p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 93606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93606 - Nephrogenic syndrome of inappropriate antidiuresis - - Disease - - - Disorder - - - - 17229917[PMID] - - arginine vasopressin receptor 2 - AVPR2 - - V2R - nephrogenic diabetes insipidus - - - gene with protein product - - - - ClinVar - AVPR2 - - - HGNC - 897 - - - IUPHAR - 368 - - - OMIM - 300538 - - - Reactome - P30518 - - - SwissProt - P30518 - - - Ensembl - ENSG00000126895 - - - Genatlas - AVPR2 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 596753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596753 - VEXAS syndrome - - Disease - - - Disorder - - - - 33108101[PMID] - - ubiquitin like modifier activating enzyme 1 - UBA1 - - CFAP124 - POC20 - POC20 centriolar protein homolog (Chlamydomonas) - UBA1, ubiquitin-activating enzyme E1 homolog (yeast) - UBE1X - - - gene with protein product - - - - Ensembl - ENSG00000130985 - - - Genatlas - UBA1 - - - HGNC - 12469 - - - OMIM - 314370 - - - Reactome - P22314 - - - SwissProt - P22314 - - - ClinVar - UBA1 - - - - - Xp11.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 93605 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93605 - Bartter syndrome type 3 - - Clinical subtype - - - Subtype of disorder - - - - 24058621[PMID]_17622951[PMID] - - chloride voltage-gated channel Kb - CLCNKB - - hClC-Kb - Chloride channel protein ClC-Kb - CLCKB - ClC-K2 - ClC-Kb - - - gene with protein product - - - - IUPHAR - 701 - - - Ensembl - ENSG00000184908 - - - Genatlas - CLCNKB - - - HGNC - 2027 - - - OMIM - 602023 - - - Reactome - P51801 - - - SwissProt - P51801 - - - ClinVar - CLCNKB - - - - - 1p36.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99068 - Complete atrioventricular septal defect-tetralogy of Fallot - - Clinical subtype - - - Subtype of disorder - - - - 24702954[PMID] - - nuclear receptor subfamily 2 group F member 2 - NR2F2 - - COUPTF2 - COUP-TFII - COUPTFB - NF-E3 - SVP40 - COUP transcription factor II - - - gene with protein product - - - - Ensembl - ENSG00000185551 - - - Genatlas - NR2F2 - - - HGNC - 7976 - - - IUPHAR - 618 - - - OMIM - 107773 - - - Reactome - P24468 - - - SwissProt - P24468 - - - ClinVar - NR2F2 - - - - - 15q26.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 18672102[PMID]_17643447[PMID] - - GATA binding protein 4 - GATA4 - - - - gene with protein product - - - - ClinVar - GATA4 - - - Ensembl - ENSG00000136574 - - - Genatlas - GATA4 - - - HGNC - 4173 - - - OMIM - 600576 - - - Reactome - P43694 - - - SwissProt - P43694 - - - - - 8p23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12632326[PMID]_15096951[PMID] - - cysteine rich with EGF like domains 1 - CRELD1 - - CIRRIN - - - gene with protein product - - - - ClinVar - CRELD1 - - - Ensembl - ENSG00000163703 - - - Genatlas - CRELD1 - - - HGNC - 14630 - - - OMIM - 607170 - - - SwissProt - Q96HD1 - - - - - 3p25.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 99067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99067 - Complete atrioventricular septal defect with ventricular hypoplasia - - Clinical subtype - - - Subtype of disorder - - - - 24702954[PMID] - - nuclear receptor subfamily 2 group F member 2 - NR2F2 - - COUPTF2 - COUP-TFII - COUPTFB - NF-E3 - SVP40 - COUP transcription factor II - - - gene with protein product - - - - Ensembl - ENSG00000185551 - - - Genatlas - NR2F2 - - - HGNC - 7976 - - - IUPHAR - 618 - - - OMIM - 107773 - - - Reactome - P24468 - - - SwissProt - P24468 - - - ClinVar - NR2F2 - - - - - 15q26.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 20581743[PMID] - - GATA binding protein 6 - GATA6 - - - - gene with protein product - - - - Ensembl - ENSG00000141448 - - - Genatlas - GATA6 - - - HGNC - 4174 - - - OMIM - 601656 - - - Reactome - Q92908 - - - SwissProt - Q92908 - - - ClinVar - GATA6 - - - - - 18q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12632326[PMID]_15096951[PMID] - - cysteine rich with EGF like domains 1 - CRELD1 - - CIRRIN - - - gene with protein product - - - - ClinVar - CRELD1 - - - Ensembl - ENSG00000163703 - - - Genatlas - CRELD1 - - - HGNC - 14630 - - - OMIM - 607170 - - - SwissProt - Q96HD1 - - - - - 3p25.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 18672102[PMID]_17643447[PMID] - - GATA binding protein 4 - GATA4 - - - - gene with protein product - - - - ClinVar - GATA4 - - - Ensembl - ENSG00000136574 - - - Genatlas - GATA4 - - - HGNC - 4173 - - - OMIM - 600576 - - - Reactome - P43694 - - - SwissProt - P43694 - - - - - 8p23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99106 - Atrial septal defect, ostium primum type - - Clinical subtype - - - Subtype of disorder - - - - 18830233[PMID] - - tolloid like 1 - TLL1 - - - - gene with protein product - - - - Ensembl - ENSG00000038295 - - - Genatlas - TLL1 - - - HGNC - 11843 - - - OMIM - 606742 - - - Reactome - O43897 - - - SwissProt - O43897 - - - ClinVar - TLL1 - - - - - 4q32.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99105 - Atrial septal defect, sinus venosus type - - Clinical subtype - - - Subtype of disorder - - - - 16287139[PMID] - - Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 - CITED2 - - MRG1 - - - gene with protein product - - - - ClinVar - CITED2 - - - Ensembl - ENSG00000164442 - - - Genatlas - CITED2 - - - HGNC - 1987 - - - OMIM - 602937 - - - Reactome - Q99967 - - - SwissProt - Q99967 - - - - - 6q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99103 - Atrial septal defect, ostium secundum type - - Clinical subtype - - - Subtype of disorder - - - - 17947298[PMID] - - actin alpha cardiac muscle 1 - ACTC1 - - CMD1R - - - gene with protein product - - - - ClinVar - ACTC1 - - - Ensembl - ENSG00000159251 - - - Genatlas - ACTC1 - - - HGNC - 143 - - - OMIM - 102540 - - - Reactome - P68032 - - - SwissProt - P68032 - - - - - 15q14 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12845333[PMID]_15810002[PMID]_20347099[PMID] - - GATA binding protein 4 - GATA4 - - - - gene with protein product - - - - ClinVar - GATA4 - - - Ensembl - ENSG00000136574 - - - Genatlas - GATA4 - - - HGNC - 4173 - - - OMIM - 600576 - - - Reactome - P43694 - - - SwissProt - P43694 - - - - - 8p23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15735645[PMID] - - myosin heavy chain 6 - MYH6 - - cardiomyopathy, hypertrophic 1 - - - gene with protein product - - - - ClinVar - MYH6 - - - Ensembl - ENSG00000197616 - - - Genatlas - MYH6 - - - HGNC - 7576 - - - OMIM - 160710 - - - Reactome - P13533 - - - SwissProt - P13533 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21285290[PMID]_15810002[PMID] - - NK2 homeobox 5 - NKX2-5 - - tinman paralog (Drosophila) - CSX1 - NKX2.5 - NKX4-1 - tinman (Drosophila) homolog - - - gene with protein product - - - - Reactome - P52952 - - - SwissProt - P52952 - - - Ensembl - ENSG00000183072 - - - Genatlas - NKX2-5 - - - HGNC - 2488 - - - OMIM - 600584 - - - ClinVar - NKX2-5 - - - - - 5q35.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19762328[PMID] - - T-box transcription factor 20 - TBX20 - - - - gene with protein product - - - - Ensembl - ENSG00000164532 - - - Genatlas - TBX20 - - - HGNC - 11598 - - - OMIM - 606061 - - - SwissProt - Q9UMR3 - - - ClinVar - TBX20 - - - - - 7p14.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 19762328[PMID] - - T-box transcription factor 20 - TBX20 - - - - gene with protein product - - - - Ensembl - ENSG00000164532 - - - Genatlas - TBX20 - - - HGNC - 11598 - - - OMIM - 606061 - - - SwissProt - Q9UMR3 - - - ClinVar - TBX20 - - - - - 7p14.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 18830233[PMID] - - tolloid like 1 - TLL1 - - - - gene with protein product - - - - Ensembl - ENSG00000038295 - - - Genatlas - TLL1 - - - HGNC - 11843 - - - OMIM - 606742 - - - Reactome - O43897 - - - SwissProt - O43897 - - - ClinVar - TLL1 - - - - - 4q32.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16287139[PMID] - - Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 - CITED2 - - MRG1 - - - gene with protein product - - - - ClinVar - CITED2 - - - Ensembl - ENSG00000164442 - - - Genatlas - CITED2 - - - HGNC - 1987 - - - OMIM - 602937 - - - Reactome - Q99967 - - - SwissProt - Q99967 - - - - - 6q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20631719[PMID] - - GATA binding protein 6 - GATA6 - - - - gene with protein product - - - - Ensembl - ENSG00000141448 - - - Genatlas - GATA6 - - - HGNC - 4174 - - - OMIM - 601656 - - - Reactome - Q92908 - - - SwissProt - Q92908 - - - ClinVar - GATA6 - - - - - 18q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99141 - Lymphedema-posterior choanal atresia syndrome - - Malformation syndrome - - - Disorder - - - - 20826270[PMID] - - protein tyrosine phosphatase non-receptor type 14 - PTPN14 - - PTPD2 - PEZ - - - gene with protein product - - - - Reactome - Q15678 - - - ClinVar - PTPN14 - - - HGNC - 9647 - - - OMIM - 603155 - - - Genatlas - PTPN14 - - - SwissProt - Q15678 - - - Ensembl - ENSG00000152104 - - - - - 1q32.3-q41 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 99361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99361 - Isolated familial medullary thyroid carcinoma - - Disease - - - Disorder - - - - 26945007[PMID] - - estrogen receptor 2 - ESR2 - - ER beta - Erb - NR3A2 - oestrogen receptor beta - estrogen receptor beta - nuclear receptor subfamily 3 group A member 2 - ER-beta - - - gene with protein product - - - - HGNC - 3468 - - - OMIM - 601663 - - - Genatlas - ESR2 - - - Reactome - Q92731 - - - Ensembl - ENSG00000140009 - - - IUPHAR - 621 - - - ClinVar - ESR2 - - - SwissProt - Q92731 - - - - - 14q23.2-q23.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 10443680[PMID] - - neurotrophic receptor tyrosine kinase 1 - NTRK1 - - MTC - TRK - TRKA - high affinity nerve growth factor receptor - tropomyosin receptor kinase A - - - gene with protein product - - - - ClinVar - NTRK1 - - - Ensembl - ENSG00000198400 - - - Genatlas - NTRK1 - - - HGNC - 8031 - - - IUPHAR - 1817 - - - OMIM - 191315 - - - Reactome - P04629 - - - SwissProt - P04629 - - - - - 1q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 10443680[PMID]_20833330[PMID]_20301434[PMID] - - ret proto-oncogene - RET - - CDHF12 - CDHR16 - PTC - RET receptor tyrosine kinase - RET51 - cadherin-related family member 16 - rearranged during transfection - - - gene with protein product - - - - ClinVar - RET - - - Ensembl - ENSG00000165731 - - - Genatlas - RET - - - HGNC - 9967 - - - IUPHAR - 2185 - - - OMIM - 164761 - - - SwissProt - P07949 - - - Reactome - P07949 - - - - - 10q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99657 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99657 - Primary dystonia, DYT2 type - - Disease - - - Disorder - - - - 25799108[PMID] - - hippocalcin - HPCA - - - - gene with protein product - - - - Ensembl - ENSG00000121905 - - - Genatlas - HPCA - - - HGNC - 5144 - - - OMIM - 142622 - - - SwissProt - P84074 - - - Reactome - P84074 - - - ClinVar - HPCA - - - - - 1p35.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99429 - Complete androgen insensitivity syndrome - - Disease - - - Disorder - - - - 20301602[PMID] - - androgen receptor - AR - - AIS - HUMARA - Kennedy disease - NR3C4 - SMAX1 - testicular feminization - - - gene with protein product - - - - Ensembl - ENSG00000169083 - - - Genatlas - AR - - - HGNC - 644 - - - IUPHAR - 628 - - - OMIM - 313700 - - - Reactome - P10275 - - - SwissProt - P10275 - - - ClinVar - AR - - - - - Xq12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99646 - Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria - - Disease - - - Disorder - - - - 22025298[PMID] - - isocitrate dehydrogenase (NADP(+)) 1 - IDH1 - - - - gene with protein product - - - - IUPHAR - 2884 - - - Ensembl - ENSG00000138413 - - - Genatlas - IDH1 - - - HGNC - 5382 - - - OMIM - 147700 - - - Reactome - O75874 - - - SwissProt - O75874 - - - ClinVar - IDH1 - - - - - 2q34 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 592574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592574 - Menke-Hennekam syndrome - - Malformation syndrome - - - Disorder - - - - 27311832[PMID] - - CREB binding lysine acetyltransferase - CREBBP - - CBP - KAT3A - RTS - - - gene with protein product - - - - Ensembl - ENSG00000005339 - - - Genatlas - CREBBP - - - HGNC - 2348 - - - IUPHAR - 2734 - - - OMIM - 600140 - - - Reactome - Q92793 - - - ClinVar - CREBBP - - - SwissProt - Q92793 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 592564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592564 - GNAO1-related developmental delay-seizures-movement disorder spectrum - - Disease - - - Disorder - - - - 29758257[PMID] - - G protein subunit alpha o1 - GNAO1 - - G-ALPHA-o - - - gene with protein product - - - - HGNC - 4389 - - - OMIM - 139311 - - - Reactome - P09471 - - - SwissProt - P09471 - - - ClinVar - GNAO1 - - - Ensembl - ENSG00000087258 - - - Genatlas - GNAO1 - - - - - 16q13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 592570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592570 - TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome - - Malformation syndrome - - - Disorder - - - - 29961569[PMID] - - TNF receptor associated factor 7 - TRAF7 - - RNF119 - DKFZp586I021 - MGC7807 - - - gene with protein product - - - - SwissProt - Q6Q0C0 - - - HGNC - 20456 - - - Ensembl - ENSG00000131653 - - - Genatlas - TRAF7 - - - OMIM - 606692 - - - ClinVar - TRAF7 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99718 - Leber plus disease - - Disease - - - Disorder - - - - 8644732[PMID] - - mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 - MT-ND4 - - NAD4 - NADH-ubiquinone oxidoreductase chain 4 - ND4 - complex I ND4 subunit - - - gene with protein product - - - - ClinVar - MT-ND4 - - - Ensembl - ENSG00000198886 - - - Genatlas - MT-ND4 - - - HGNC - 7459 - - - OMIM - 516003 - - - Reactome - P03905 - - - SwissProt - P03905 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 8016139[PMID]_8644732[PMID] - - mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 - MT-ND6 - - NAD6 - NADH-ubiquinone oxidoreductase chain 6 - ND6 - complex I ND6 subunit - - - gene with protein product - - - - ClinVar - MT-ND6 - - - Ensembl - ENSG00000198695 - - - Genatlas - MT-ND6 - - - HGNC - 7462 - - - OMIM - 516006 - - - Reactome - P03923 - - - SwissProt - P03923 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19458970[PMID] - - mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 - MT-ND3 - - NAD3 - NADH-ubiquinone oxidoreductase chain 3 - ND3 - complex I ND3 subunit - - - gene with protein product - - - - Ensembl - ENSG00000198840 - - - Genatlas - MT-ND3 - - - HGNC - 7458 - - - OMIM - 516002 - - - Reactome - P03897 - - - SwissProt - P03897 - - - ClinVar - MT-ND3 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99725 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99725 - Pituitary gigantism - - Disease - - - Disorder - - - - 26187128[PMID] - - AHR interacting HSP90 co-chaperone - AIP - - ARA9 - FKBP16 - XAP2 - aryl hydrocarbon receptor-associated protein 9 - X-associated protein-2 - hepatitis B virus X-associated cellular protein 2 - FKBP37 - FKBP prolyl isomerase 16 - FK506-binding protein 37 - Ah receptor activated 9 - - - gene with protein product - - - - ClinVar - AIP - - - Reactome - O00170 - - - Ensembl - ENSG00000110711 - - - Genatlas - AIP - - - HGNC - 358 - - - OMIM - 605555 - - - SwissProt - O00170 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 26187128[PMID] - - menin 1 - MEN1 - - menin - - - gene with protein product - - - - Ensembl - ENSG00000133895 - - - Genatlas - MEN1 - - - HGNC - 7010 - - - OMIM - 613733 - - - Reactome - O00255 - - - SwissProt - O00255 - - - ClinVar - MEN1 - - - - - 11q13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 589821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589821 - Congenital-onset Steinert myotonic dystrophy - - Clinical subtype - - - Subtype of disorder - - - - 31326502[PMID] - - DM1 protein kinase - DMPK - - Myotonin-protein kinase - DM protein kinase - DM1PK - DMK - MDPK - MT-PK - dystrophia myotonica 1 - myotonic dystrophy associated protein kinase - myotonin protein kinase A - thymopoietin homolog - - - gene with protein product - - - - ClinVar - DMPK - - - Ensembl - ENSG00000104936 - - - Genatlas - DMPK - - - HGNC - 2933 - - - IUPHAR - 1505 - - - OMIM - 605377 - - - Reactome - Q09013 - - - SwissProt - Q09013 - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 589827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589827 - Juvenile-onset Steinert myotonic dystrophy - - Clinical subtype - - - Subtype of disorder - - - - 31326502[PMID] - - DM1 protein kinase - DMPK - - Myotonin-protein kinase - DM protein kinase - DM1PK - DMK - MDPK - MT-PK - dystrophia myotonica 1 - myotonic dystrophy associated protein kinase - myotonin protein kinase A - thymopoietin homolog - - - gene with protein product - - - - ClinVar - DMPK - - - Ensembl - ENSG00000104936 - - - Genatlas - DMPK - - - HGNC - 2933 - - - IUPHAR - 1505 - - - OMIM - 605377 - - - Reactome - Q09013 - - - SwissProt - Q09013 - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 589824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589824 - Childhood-onset Steinert myotonic dystrophy - - Clinical subtype - - - Subtype of disorder - - - - 31326502[PMID] - - DM1 protein kinase - DMPK - - Myotonin-protein kinase - DM protein kinase - DM1PK - DMK - MDPK - MT-PK - dystrophia myotonica 1 - myotonic dystrophy associated protein kinase - myotonin protein kinase A - thymopoietin homolog - - - gene with protein product - - - - ClinVar - DMPK - - - Ensembl - ENSG00000104936 - - - Genatlas - DMPK - - - HGNC - 2933 - - - IUPHAR - 1505 - - - OMIM - 605377 - - - Reactome - Q09013 - - - SwissProt - Q09013 - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 589833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589833 - Late-onset Steinert myotonic dystrophy - - Clinical subtype - - - Subtype of disorder - - - - 31326502[PMID] - - DM1 protein kinase - DMPK - - Myotonin-protein kinase - DM protein kinase - DM1PK - DMK - MDPK - MT-PK - dystrophia myotonica 1 - myotonic dystrophy associated protein kinase - myotonin protein kinase A - thymopoietin homolog - - - gene with protein product - - - - ClinVar - DMPK - - - Ensembl - ENSG00000104936 - - - Genatlas - DMPK - - - HGNC - 2933 - - - IUPHAR - 1505 - - - OMIM - 605377 - - - Reactome - Q09013 - - - SwissProt - Q09013 - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 589830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589830 - Adult-onset Steinert myotonic dystrophy - - Clinical subtype - - - Subtype of disorder - - - - 31326502[PMID] - - DM1 protein kinase - DMPK - - Myotonin-protein kinase - DM protein kinase - DM1PK - DMK - MDPK - MT-PK - dystrophia myotonica 1 - myotonic dystrophy associated protein kinase - myotonin protein kinase A - thymopoietin homolog - - - gene with protein product - - - - ClinVar - DMPK - - - Ensembl - ENSG00000104936 - - - Genatlas - DMPK - - - HGNC - 2933 - - - IUPHAR - 1505 - - - OMIM - 605377 - - - Reactome - Q09013 - - - SwissProt - Q09013 - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99704 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99704 - Early-onset obesity-hyperphagia-severe developmental delay syndrome - - Disease - - - Disorder - - - - 613886[PMID] - - neurotrophic receptor tyrosine kinase 2 - NTRK2 - - TRKB - BDNF/NT-3 growth factors receptor - - - gene with protein product - - - - Genatlas - NTRK2 - - - HGNC - 8032 - - - IUPHAR - 1818 - - - OMIM - 600456 - - - Reactome - Q16620 - - - SwissProt - Q16620 - - - Ensembl - ENSG00000148053 - - - ClinVar - NTRK2 - - - - - 9q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 589905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589905 - PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome - - Disease - - - Disorder - - - - 29209020[PMID] - - PHIP subunit of CUL4-Ring ligase complex - PHIP - - RepID - FLJ20705 - DCAF14 - ndrp - BRWD2 - DDB1 and CUL4 associated factor 14 - - - gene with protein product - - - - SwissProt - Q8WWQ0 - - - ClinVar - PHIP - - - Genatlas - PHIP - - - OMIM - 612870 - - - IUPHAR - 2776 - - - HGNC - 15673 - - - Ensembl - ENSG00000146247 - - - - - 6q14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 589856 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589856 - Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome - - Malformation syndrome - - - Disorder - - - - 31949313[PMID] - - lysine methyltransferase 2D - KMT2D - - histone-lysine N-methyltransferase 2D - ALR - CAGL114 - MLL4 - ALL1-related - - - gene with protein product - - - - Ensembl - ENSG00000167548 - - - HGNC - 7133 - - - OMIM - 602113 - - - Reactome - O14686 - - - SwissProt - O14686 - - - Genatlas - KMT2D - - - ClinVar - KMT2D - - - IUPHAR - 2691 - - - - - 12q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99749 - Kostmann syndrome - - Disease - - - Disorder - - - - 17187068[PMID] - - HCLS1 associated protein X-1 - HAX1 - - HCLS1 (and PKD2) associated protein - HCLSBP1 - HS1BP1 - HAX-1 - - - gene with protein product - - - - Reactome - O00165 - - - ClinVar - HAX1 - - - Ensembl - ENSG00000143575 - - - Genatlas - HAX1 - - - HGNC - 16915 - - - OMIM - 605998 - - - SwissProt - O00165 - - - - - 1q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99757 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99757 - Embryonal rhabdomyosarcoma - - Clinical subtype - - - Subtype of disorder - - - - 9520460[PMID] - - solute carrier family 67 member 1 - SLC67A1 - - BWR1A - ITM - TSSC5 - organic cation transporter like 2 - imprinted multi-membrane-spanning polyspecific transporter-like gene 1 - - - gene with protein product - - - - Ensembl - ENSG00000110628 - - - Genatlas - SLC22A18 - - - HGNC - 10964 - - - IUPHAR - 1036 - - - OMIM - 602631 - - - Reactome - Q96BI1 - - - SwissProt - Q96BI1 - - - ClinVar - SLC22A18 - - - - - 11p15.4 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 7706467[PMID] - - tumor protein p53 - TP53 - - LFS1 - Li-Fraumeni syndrome - P53 - p53 - - - gene with protein product - - - - Ensembl - ENSG00000141510 - - - Genatlas - TP53 - - - HGNC - 11998 - - - OMIM - 191170 - - - Reactome - P04637 - - - SwissProt - P04637 - - - ClinVar - TP53 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34166060[PMID] - - neurofibromin 1 - NF1 - - Watson disease - neurofibromatosis - von Recklinghausen disease - - - gene with protein product - - - - Ensembl - ENSG00000196712 - - - Genatlas - NF1 - - - HGNC - 7765 - - - OMIM - 613113 - - - ClinVar - NF1 - - - Reactome - P21359 - - - SwissProt - P21359 - - - - - 17q11.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 22180160[PMID] - - dicer 1, ribonuclease III - DICER1 - - Dicer - HERNA - K12H4.8-LIKE - KIAA0928 - dicer 1, double-stranded RNA-specific endoribonuclease - - - gene with protein product - - - - ClinVar - DICER1 - - - Ensembl - ENSG00000100697 - - - Genatlas - DICER1 - - - HGNC - 17098 - - - OMIM - 606241 - - - Reactome - Q9UPY3 - - - SwissProt - Q9UPY3 - - - - - 14q32.13 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 99756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99756 - Alveolar rhabdomyosarcoma - - Clinical subtype - - - Subtype of disorder - - - - - - forkhead box O1 - FOXO1 - - FKH1 - - - gene with protein product - - - - ClinVar - FOXO1 - - - Ensembl - ENSG00000150907 - - - Genatlas - FOXO1 - - - HGNC - 3819 - - - OMIM - 136533 - - - Reactome - Q12778 - - - SwissProt - Q12778 - - - - - 13q14.11 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - paired box 3 - PAX3 - - HUP2 - PAX-3 - - - gene with protein product - - - - Ensembl - ENSG00000135903 - - - Genatlas - PAX3 - - - HGNC - 8617 - - - OMIM - 606597 - - - Reactome - P23760 - - - SwissProt - P23760 - - - ClinVar - PAX3 - - - - - 2q36.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - paired box 7 - PAX7 - - Hup1 - - - gene with protein product - - - - SwissProt - P23759 - - - Ensembl - ENSG00000009709 - - - Genatlas - PAX7 - - - HGNC - 8621 - - - OMIM - 167410 - - - ClinVar - PAX7 - - - - - 1p36.13 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 34166060[PMID] - - neurofibromin 1 - NF1 - - Watson disease - neurofibromatosis - von Recklinghausen disease - - - gene with protein product - - - - Ensembl - ENSG00000196712 - - - Genatlas - NF1 - - - HGNC - 7765 - - - OMIM - 613113 - - - ClinVar - NF1 - - - Reactome - P21359 - - - SwissProt - P21359 - - - - - 17q11.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 7706467[PMID] - - tumor protein p53 - TP53 - - LFS1 - Li-Fraumeni syndrome - P53 - p53 - - - gene with protein product - - - - Ensembl - ENSG00000141510 - - - Genatlas - TP53 - - - HGNC - 11998 - - - OMIM - 191170 - - - Reactome - P04637 - - - SwissProt - P04637 - - - ClinVar - TP53 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99734 - Myotonia fluctuans - - Disease - - - Disorder - - - - 7980103[PMID]_8308722[PMID] - - sodium voltage-gated channel alpha subunit 4 - SCN4A - - HYPP - Nav1.4 - SkM1 - - - gene with protein product - - - - ClinVar - SCN4A - - - Genatlas - SCN4A - - - HGNC - 10591 - - - IUPHAR - 581 - - - OMIM - 603967 - - - Reactome - P35499 - - - SwissProt - P35499 - - - Ensembl - ENSG00000007314 - - - - - 17q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99731 - Isolated sulfite oxidase deficiency - - Clinical subtype - - - Subtype of disorder - - - - - - sulfite oxidase - SUOX - - - - gene with protein product - - - - Ensembl - ENSG00000139531 - - - Genatlas - SUOX - - - HGNC - 11460 - - - OMIM - 606887 - - - Reactome - P51687 - - - SwissProt - P51687 - - - ClinVar - SUOX - - - - - 12q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99735 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99735 - Myotonia permanens - - Disease - - - Disorder - - - - 8308722[PMID] - - sodium voltage-gated channel alpha subunit 4 - SCN4A - - HYPP - Nav1.4 - SkM1 - - - gene with protein product - - - - ClinVar - SCN4A - - - Genatlas - SCN4A - - - HGNC - 10591 - - - IUPHAR - 581 - - - OMIM - 603967 - - - Reactome - P35499 - - - SwissProt - P35499 - - - Ensembl - ENSG00000007314 - - - - - 17q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99736 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99736 - Acetazolamide-responsive myotonia - - Disease - - - Disorder - - - - 8058156[PMID] - - sodium voltage-gated channel alpha subunit 4 - SCN4A - - HYPP - Nav1.4 - SkM1 - - - gene with protein product - - - - ClinVar - SCN4A - - - Genatlas - SCN4A - - - HGNC - 10591 - - - IUPHAR - 581 - - - OMIM - 603967 - - - Reactome - P35499 - - - SwissProt - P35499 - - - Ensembl - ENSG00000007314 - - - - - 17q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99741 - King-Denborough syndrome - - Malformation syndrome - - - Disorder - - - - 21514828[PMID]_18765655[PMID] - - ryanodine receptor 1 - RYR1 - - PPP1R137 - RYR - protein phosphatase 1, regulatory subunit 137 - - - gene with protein product - - - - ClinVar - RYR1 - - - Ensembl - ENSG00000196218 - - - Genatlas - RYR1 - - - HGNC - 10483 - - - IUPHAR - 747 - - - OMIM - 180901 - - - Reactome - P21817 - - - SwissProt - P21817 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99742 - Amish lethal microcephaly - - Malformation syndrome - - - Disorder - - - - 20301539[PMID] - - solute carrier family 25 member 19 - SLC25A19 - - DNC - MUP1 - TPC - Mitochondrial thiamine pyrophosphate carrier - mitochondrial uncoupling protein 1 - Deoxynucleotide carrier - - - gene with protein product - - - - Genatlas - SLC25A19 - - - HGNC - 14409 - - - OMIM - 606521 - - - SwissProt - Q9HC21 - - - ClinVar - SLC25A19 - - - Ensembl - ENSG00000125454 - - - IUPHAR - 1073 - - - Reactome - Q9HC21 - - - - - 17q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98820 - Familial focal epilepsy with variable foci - - Disease - - - Disorder - - - - 23542697[PMID]_23542701[PMID] - - DEP domain containing 5, GATOR1 subcomplex subunit - DEPDC5 - - DEP.5 - KIAA0645 - - - gene with protein product - - - - Ensembl - ENSG00000100150 - - - Genatlas - DEPDC5 - - - HGNC - 18423 - - - OMIM - 614191 - - - SwissProt - O75140 - - - ClinVar - DEPDC5 - - - - - 22q12.2-q12.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 26505888[PMID]_27173016[PMID] - - NPR2 like, GATOR1 complex subunit - NPRL2 - - NPR2 - NPR2L - - - gene with protein product - - - - OMIM - 607072 - - - Genatlas - TUSC4 - - - ClinVar - TUSC4 - - - SwissProt - Q8WTW4 - - - Ensembl - ENSG00000114388 - - - HGNC - 24969 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 26505888[PMID]_27173016[PMID] - - NPR3 like, GATOR1 complex subunit - NPRL3 - - RMD11 - CGTHBA - conserved gene telomeric to alpha globin cluster - HS-40 - MARE - NPR3 - - - gene with protein product - - - - HGNC - 14124 - - - OMIM - 600928 - - - Genatlas - CGTHBA - - - Ensembl - ENSG00000103148 - - - SwissProt - Q12980 - - - ClinVar - CGTHBA - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 98818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98818 - Landau-Kleffner syndrome - - Disease - - - Disorder - - - - 23933820[PMID]_23933819[PMID]_23933818[PMID] - - glutamate ionotropic receptor NMDA type subunit 2A - GRIN2A - - GluN2A - NR2A - - - gene with protein product - - - - ClinVar - GRIN2A - - - Ensembl - ENSG00000183454 - - - Genatlas - GRIN2A - - - HGNC - 4585 - - - IUPHAR - 456 - - - OMIM - 138253 - - - Reactome - Q12879 - - - SwissProt - Q12879 - - - - - 16p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98813 - Hypohidrotic ectodermal dysplasia with immunodeficiency - - Disease - - - Disorder - - - - - - inhibitor of nuclear factor kappa B kinase regulatory subunit gamma - IKBKG - - FIP-3 - FIP3 - Fip3p - IKK-gamma - NEMO - ZC2HC9 - IkB kinase-associated protein 1 - IkB kinase subunit gamma - NF-kappa-B essential modulator - IKKG - IKKAP1 - I-kappa-B kinase subunit gamma - 14.7K (adenovirus E3 protein) interacting protein 3 - - - gene with protein product - - - - ClinVar - IKBKG - - - Ensembl - ENSG00000269335 - - - Genatlas - IKBKG - - - HGNC - 5961 - - - OMIM - 300248 - - - Reactome - Q9Y6K9 - - - SwissProt - Q9Y6K9 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18412279[PMID] - - NFKB inhibitor alpha - NFKBIA - - IKBA - IkappaBalpha - MAD-3 - NF-kappa-B inhibitor alpha - - - gene with protein product - - - - Ensembl - ENSG00000100906 - - - Genatlas - NFKBIA - - - HGNC - 7797 - - - OMIM - 164008 - - - Reactome - P25963 - - - SwissProt - P25963 - - - ClinVar - NFKBIA - - - - - 14q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98811 - Paroxysmal exertion-induced dyskinesia - - Disease - - - Disorder - - - - - - solute carrier family 2 member 1 - SLC2A1 - - DYT18 - DYT9 - GLUT-1 - dystonia gene 18 - dystonia gene 9 - - - gene with protein product - - - - ClinVar - SLC2A1 - - - IUPHAR - 875 - - - Ensembl - ENSG00000117394 - - - Genatlas - SLC2A1 - - - HGNC - 11005 - - - OMIM - 138140 - - - Reactome - P11166 - - - SwissProt - P11166 - - - - - 1p34.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22902309[PMID]_22209761[PMID]_23398397[PMID] - - proline rich transmembrane protein 2 - PRRT2 - - interferon induced transmembrane protein domain containing 1 - dispanin subfamily B member 3 - DKFZp547J199 - DSPB3 - EKD1 - FICCA - FLJ25513 - IFITMD1 - Interferon induced transmembrane protein domain containing 1 - PKC - Paroxysmal kinesigenic dyskinesia - Episodic kinesigenic dyskinesia 1 - - - gene with protein product - - - - Ensembl - ENSG00000167371 - - - Genatlas - PRRT2 - - - HGNC - 30500 - - - OMIM - 614386 - - - SwissProt - Q7Z6L0 - - - ClinVar - PRRT2 - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98810 - Paroxysmal non-kinesigenic dyskinesia - - Disease - - - Disorder - - - - - - PNKD metallo-beta-lactamase domain containing - PNKD - - BRP17 - DKFZp564N1362 - DYT8 - FKSG19 - FPD1 - KIAA1184 - KIPP1184 - MGC31943 - MR-1 - PDC - PKND1 - TAHCCP2 - myofibrillogenesis regulator 1 - MR-1S - - - gene with protein product - - - - ClinVar - PNKD - - - Reactome - Q8N490 - - - Ensembl - ENSG00000127838 - - - Genatlas - PNKD - - - HGNC - 9153 - - - OMIM - 609023 - - - SwissProt - Q8N490 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22902309[PMID]_22209761[PMID]_23398397[PMID] - - proline rich transmembrane protein 2 - PRRT2 - - interferon induced transmembrane protein domain containing 1 - dispanin subfamily B member 3 - DKFZp547J199 - DSPB3 - EKD1 - FICCA - FLJ25513 - IFITMD1 - Interferon induced transmembrane protein domain containing 1 - PKC - Paroxysmal kinesigenic dyskinesia - Episodic kinesigenic dyskinesia 1 - - - gene with protein product - - - - Ensembl - ENSG00000167371 - - - Genatlas - PRRT2 - - - HGNC - 30500 - - - OMIM - 614386 - - - SwissProt - Q7Z6L0 - - - ClinVar - PRRT2 - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98809 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98809 - Paroxysmal kinesigenic dyskinesia - - Disease - - - Disorder - - - - 23398397[PMID] - - proline rich transmembrane protein 2 - PRRT2 - - interferon induced transmembrane protein domain containing 1 - dispanin subfamily B member 3 - DKFZp547J199 - DSPB3 - EKD1 - FICCA - FLJ25513 - IFITMD1 - Interferon induced transmembrane protein domain containing 1 - PKC - Paroxysmal kinesigenic dyskinesia - Episodic kinesigenic dyskinesia 1 - - - gene with protein product - - - - Ensembl - ENSG00000167371 - - - Genatlas - PRRT2 - - - HGNC - 30500 - - - OMIM - 614386 - - - SwissProt - Q7Z6L0 - - - ClinVar - PRRT2 - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29294000[PMID] - - potassium voltage-gated channel subfamily A member 1 - KCNA1 - - HUK1 - Kv1.1 - MBK1 - RBK1 - - - gene with protein product - - - - Ensembl - ENSG00000111262 - - - Genatlas - KCNA1 - - - HGNC - 6218 - - - IUPHAR - 538 - - - OMIM - 176260 - - - Reactome - Q09470 - - - SwissProt - Q09470 - - - ClinVar - KCNA1 - - - - - 12p13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 38979912[PMID] - - potassium inwardly rectifying channel subfamily J member 10 - KCNJ10 - - Kir1.2 - Kir4.1 - - - gene with protein product - - - - ClinVar - KCNJ10 - - - Ensembl - ENSG00000177807 - - - Genatlas - KCNJ10 - - - HGNC - 6256 - - - IUPHAR - 438 - - - OMIM - 602208 - - - Reactome - P78508 - - - SwissProt - P78508 - - - - - 1q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98808 - Autosomal dominant dopa-responsive dystonia - - Disease - - - Disorder - - - - - - GTP cyclohydrolase 1 - GCH1 - - DYT5a - GTPCH1 - dopa-responsive dystonia - GTP cyclohydrolase I - - - gene with protein product - - - - ClinVar - GCH1 - - - Ensembl - ENSG00000131979 - - - Genatlas - GCH1 - - - HGNC - 4193 - - - OMIM - 600225 - - - Reactome - P30793 - - - SwissProt - P30793 - - - - - 14q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31922365[PMID] - - nuclear receptor subfamily 4 group A member 2 - NR4A2 - - TINUR - NOT - RNR1 - HZF-3 - - - gene with protein product - - - - HGNC - 7981 - - - Ensembl - ENSG00000153234 - - - SwissProt - P43354 - - - Reactome - P43354 - - - IUPHAR - 630 - - - OMIM - 601828 - - - - - 2q24.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 34305140[PMID] - - inosine monophosphate dehydrogenase 2 - IMPDH2 - - - - gene with protein product - - - - HGNC - 6053 - - - Ensembl - ENSG00000178035 - - - OMIM - 146691 - - - IUPHAR - 2625 - - - SwissProt - P12268 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 98807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98807 - Primary dystonia, DYT13 type - - Disease - - - Disorder - - - - 11261511[PMID] - - dystonia 13, torsion - DYT13 - - - - Disorder-associated locus - - - - Ensembl - - - - OMIM - - - - SwissProt - - - - HGNC - 3101 - - - - - 1p36 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98838 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98838 - Primary mediastinal large B-cell lymphoma - - Disease - - - Disorder - - - - 17116487[PMID] - - BCL6 transcription repressor - BCL6 - - BCL5 - BCL6A - LAZ3 - ZBTB27 - - - gene with protein product - - - - ClinVar - BCL6 - - - Reactome - P41182 - - - IUPHAR - 2957 - - - Ensembl - ENSG00000113916 - - - Genatlas - BCL6 - - - HGNC - 1001 - - - OMIM - 109565 - - - SwissProt - P41182 - - - - - 3q27.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 27312795[PMID] - - exportin 1 - XPO1 - - CRM1 - emb - CRM-1 - chromosome region maintenance 1 homolog (yeast) - - - gene with protein product - - - - HGNC - 12825 - - - Genatlas - XPO1 - - - IUPHAR - 3014 - - - SwissProt - O14980 - - - OMIM - 602559 - - - ClinVar - XPO1 - - - Ensembl - ENSG00000082898 - - - Reactome - O14980 - - - - - 2p15 - 1 - - - - - Candidate gene tested in - - - Assessed - - - - - - 98835 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98835 - Acute undifferentiated leukemia - - Disease - - - Disorder - - - - 11579461[PMID] - - lysine methyltransferase 2A - KMT2A - - HTRX - ALL1 - ALL-1 - CXXC7 - HRX - HTRX1 - MLL1A - TRX1 - MLL1 - Histone-lysine N-methyltransferase 2A - - - gene with protein product - - - - ClinVar - KMT2A - - - IUPHAR - 2688 - - - Ensembl - ENSG00000118058 - - - Genatlas - KMT2A - - - HGNC - 7132 - - - OMIM - 159555 - - - Reactome - Q03164 - - - SwissProt - Q03164 - - - - - 11q23.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 98833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98833 - Acute myeloblastic leukemia without maturation - - Disease - - - Disorder - - - - 22338050[PMID] - - fms related receptor tyrosine kinase 3 - FLT3 - - CD135 - FLK2 - STK1 - - - gene with protein product - - - - Ensembl - ENSG00000122025 - - - Genatlas - FLT3 - - - HGNC - 3765 - - - IUPHAR - 1807 - - - OMIM - 136351 - - - Reactome - P36888 - - - ClinVar - FLT3 - - - SwissProt - P36888 - - - - - 13q12.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 22338050[PMID] - - nucleophosmin 1 - NPM1 - - B23 - NPM - Nucleophosmin/nucleoplasmin family, member 1 - Numatrin - nucleolar phosphoprotein B23 - numatrin - nucleophosmin/nucleoplasmin family, member 1 - - - gene with protein product - - - - Ensembl - ENSG00000181163 - - - Genatlas - NPM1 - - - HGNC - 7910 - - - OMIM - 164040 - - - Reactome - P06748 - - - SwissProt - P06748 - - - ClinVar - NPM1 - - - - - 5q35.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Not yet assessed - - - - - - 98834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98834 - Acute myeloblastic leukemia with maturation - - Disease - - - Disorder - - - - 22338050[PMID] - - fms related receptor tyrosine kinase 3 - FLT3 - - CD135 - FLK2 - STK1 - - - gene with protein product - - - - Ensembl - ENSG00000122025 - - - Genatlas - FLT3 - - - HGNC - 3765 - - - IUPHAR - 1807 - - - OMIM - 136351 - - - Reactome - P36888 - - - ClinVar - FLT3 - - - SwissProt - P36888 - - - - - 13q12.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 22338050[PMID]_20425418[PMID] - - KIT proto-oncogene, receptor tyrosine kinase - KIT - - C-Kit - CD117 - SCFR - mast/stem cell growth factor receptor Kit - - - gene with protein product - - - - ClinVar - KIT - - - Ensembl - ENSG00000157404 - - - Genatlas - KIT - - - HGNC - 6342 - - - IUPHAR - 1805 - - - OMIM - 164920 - - - Reactome - P10721 - - - SwissProt - P10721 - - - - - 4q12 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Not yet assessed - - - - 22338050[PMID] - - nucleophosmin 1 - NPM1 - - B23 - NPM - Nucleophosmin/nucleoplasmin family, member 1 - Numatrin - nucleolar phosphoprotein B23 - numatrin - nucleophosmin/nucleoplasmin family, member 1 - - - gene with protein product - - - - Ensembl - ENSG00000181163 - - - Genatlas - NPM1 - - - HGNC - 7910 - - - OMIM - 164040 - - - Reactome - P06748 - - - SwissProt - P06748 - - - ClinVar - NPM1 - - - - - 5q35.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Not yet assessed - - - - - - 98831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98831 - Acute myeloid leukemia with 11q23 abnormalities - - Disease - - - Disorder - - - - - - lysine methyltransferase 2A - KMT2A - - HTRX - ALL1 - ALL-1 - CXXC7 - HRX - HTRX1 - MLL1A - TRX1 - MLL1 - Histone-lysine N-methyltransferase 2A - - - gene with protein product - - - - ClinVar - KMT2A - - - IUPHAR - 2688 - - - Ensembl - ENSG00000118058 - - - Genatlas - KMT2A - - - HGNC - 7132 - - - OMIM - 159555 - - - Reactome - Q03164 - - - SwissProt - Q03164 - - - - - 11q23.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 98832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98832 - Acute myeloid leukemia with minimal differentiation - - Disease - - - Disorder - - - - 22338050[PMID] - - fms related receptor tyrosine kinase 3 - FLT3 - - CD135 - FLK2 - STK1 - - - gene with protein product - - - - Ensembl - ENSG00000122025 - - - Genatlas - FLT3 - - - HGNC - 3765 - - - IUPHAR - 1807 - - - OMIM - 136351 - - - Reactome - P36888 - - - ClinVar - FLT3 - - - SwissProt - P36888 - - - - - 13q12.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 98829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98829 - Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) - - Disease - - - Disorder - - - - 23783394[PMID] - - fms related receptor tyrosine kinase 3 - FLT3 - - CD135 - FLK2 - STK1 - - - gene with protein product - - - - Ensembl - ENSG00000122025 - - - Genatlas - FLT3 - - - HGNC - 3765 - - - IUPHAR - 1807 - - - OMIM - 136351 - - - Reactome - P36888 - - - ClinVar - FLT3 - - - SwissProt - P36888 - - - - - 13q12.2 - 1 - - - - - Biomarker tested in - - - Assessed - - - - 19357394[PMID] - - myosin heavy chain 11 - MYH11 - - SMHC - SMMHC - SMMS-1 - - - gene with protein product - - - - ClinVar - MYH11 - - - Ensembl - ENSG00000133392 - - - Genatlas - MYH11 - - - HGNC - 7569 - - - OMIM - 160745 - - - Reactome - P35749 - - - SwissProt - P35749 - - - - - 16p13.11 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 19357394[PMID] - - core-binding factor subunit beta - CBFB - - PEBP2B - - - gene with protein product - - - - Reactome - Q13951 - - - ClinVar - CBFB - - - Ensembl - ENSG00000067955 - - - Genatlas - CBFB - - - HGNC - 1539 - - - OMIM - 121360 - - - SwissProt - Q13951 - - - - - 16q22.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 23783394[PMID]_24226631[PMID] - - KIT proto-oncogene, receptor tyrosine kinase - KIT - - C-Kit - CD117 - SCFR - mast/stem cell growth factor receptor Kit - - - gene with protein product - - - - ClinVar - KIT - - - Ensembl - ENSG00000157404 - - - Genatlas - KIT - - - HGNC - 6342 - - - IUPHAR - 1805 - - - OMIM - 164920 - - - Reactome - P10721 - - - SwissProt - P10721 - - - - - 4q12 - 1 - - - - - Biomarker tested in - - - Assessed - - - - - - 98826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98826 - Myelodysplastic neoplasm with low blasts - - Disease - - - Disorder - - - - 19483684[PMID]_19557078[PMID] - - tet methylcytosine dioxygenase 2 - TET2 - - FLJ20032 - ten-eleven translocation 2 - - - gene with protein product - - - - ClinVar - TET2 - - - Ensembl - ENSG00000168769 - - - Genatlas - TET2 - - - HGNC - 25941 - - - OMIM - 612839 - - - Reactome - Q6N021 - - - SwissProt - Q6N021 - - - - - 4q24 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 98823 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98823 - Chronic myelomonocytic leukemia - - Disease - - - Disorder - - - - 8168137[PMID]_7742547[PMID] - - ETS variant transcription factor 6 - ETV6 - - TEL - TEL oncogene - - - gene with protein product - - - - Reactome - P41212 - - - Ensembl - ENSG00000139083 - - - Genatlas - ETV6 - - - HGNC - 3495 - - - OMIM - 600618 - - - SwissProt - P41212 - - - ClinVar - ETV6 - - - - - 12p13.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 31723789[PMID] - - ASXL transcriptional regulator 1 - ASXL1 - - KIAA0978 - - - gene with protein product - - - - Reactome - Q8IXJ9 - - - Ensembl - ENSG00000171456 - - - Genatlas - ASXL1 - - - HGNC - 18318 - - - OMIM - 612990 - - - SwissProt - Q8IXJ9 - - - ClinVar - ASXL1 - - - - - 20q11.21 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 31723789[PMID] - - serine and arginine rich splicing factor 2 - SRSF2 - - SC35 - PR264 - SFRS2A - SC-35 - SR splicing factor 2 - - - gene with protein product - - - - OMIM - 600813 - - - SwissProt - Q01130 - - - HGNC - 10783 - - - Ensembl - ENSG00000161547 - - - Reactome - Q01130 - - - Genatlas - SRSF2 - - - ClinVar - SRSF2 - - - - - 17q25.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 98824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98824 - Atypical chronic myeloid leukemia - - Disease - - - Disorder - - - - 23656643[PMID] - - colony stimulating factor 3 receptor - CSF3R - - G-CSF-R - GCSFR - granulocyte colony-stimulating factor receptor - - - gene with protein product - - - - Reactome - Q99062 - - - Ensembl - ENSG00000119535 - - - Genatlas - CSF3R - - - HGNC - 2439 - - - IUPHAR - 1719 - - - OMIM - 138971 - - - SwissProt - Q99062 - - - ClinVar - CSF3R - - - - - 1p34.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 98853 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98853 - Autosomal dominant Emery-Dreifuss muscular dystrophy - - Etiological subtype - - - Subtype of disorder - - - - - - lamin A/C - LMNA - - HGPS - MADA - mandibuloacral dysplasia type A - progerin - - - gene with protein product - - - - ClinVar - LMNA - - - Ensembl - ENSG00000160789 - - - Genatlas - LMNA - - - HGNC - 6636 - - - OMIM - 150330 - - - Reactome - P02545 - - - SwissProt - P02545 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - spectrin repeat containing nuclear envelope protein 1 - SYNE1 - - 8B - ARCA1 - CPG2 - Enaptin - KIAA0796 - MYNE1 - Nesp1 - Nesprin-1 - SCAR8 - SYNE-1B - dJ45H2.2 - myocyte nuclear envelope protein 1 - nuclear envelope spectrin repeat-1 - enaptin - - - gene with protein product - - - - ClinVar - SYNE1 - - - Ensembl - ENSG00000131018 - - - Genatlas - SYNE1 - - - HGNC - 17089 - - - OMIM - 608441 - - - Reactome - Q8NF91 - - - SwissProt - Q8NF91 - - - - - 6q25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Not yet assessed - - - - 21391237[PMID] - - transmembrane protein 43 - TMEM43 - - DKFZp586G1919 - LUMA - MGC3222 - - - gene with protein product - - - - Reactome - Q9BTV4 - - - ClinVar - TMEM43 - - - Ensembl - ENSG00000170876 - - - Genatlas - TMEM43 - - - HGNC - 28472 - - - OMIM - 612048 - - - SwissProt - Q9BTV4 - - - - - 3p25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - spectrin repeat containing nuclear envelope protein 2 - SYNE2 - - DKFZP434H2235 - KIAA1011 - NUA - NUANCE - Nesp2 - Nesprin-2 - SYNE-2 - nuclear envelope spectrin repeat-2 - nucleus and actin connecting element - - - gene with protein product - - - - ClinVar - SYNE2 - - - Genatlas - SYNE2 - - - HGNC - 17084 - - - OMIM - 608442 - - - Reactome - Q8WXH0 - - - SwissProt - Q8WXH0 - - - Ensembl - ENSG00000054654 - - - - - 14q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Not yet assessed - - - - - - 98850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98850 - Aggressive systemic mastocytosis - - Disease - - - Disorder - - - - 19262599[PMID] - - tet methylcytosine dioxygenase 2 - TET2 - - FLJ20032 - ten-eleven translocation 2 - - - gene with protein product - - - - ClinVar - TET2 - - - Ensembl - ENSG00000168769 - - - Genatlas - TET2 - - - HGNC - 25941 - - - OMIM - 612839 - - - Reactome - Q6N021 - - - SwissProt - Q6N021 - - - - - 4q24 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 26464169[PMID] - - serine and arginine rich splicing factor 2 - SRSF2 - - SC35 - PR264 - SFRS2A - SC-35 - SR splicing factor 2 - - - gene with protein product - - - - OMIM - 600813 - - - SwissProt - Q01130 - - - HGNC - 10783 - - - Ensembl - ENSG00000161547 - - - Reactome - Q01130 - - - Genatlas - SRSF2 - - - ClinVar - SRSF2 - - - - - 17q25.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 26464169[PMID] - - ASXL transcriptional regulator 1 - ASXL1 - - KIAA0978 - - - gene with protein product - - - - Reactome - Q8IXJ9 - - - Ensembl - ENSG00000171456 - - - Genatlas - ASXL1 - - - HGNC - 18318 - - - OMIM - 612990 - - - SwissProt - Q8IXJ9 - - - ClinVar - ASXL1 - - - - - 20q11.21 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 26464169[PMID] - - RUNX family transcription factor 1 - RUNX1 - - AMLCR1 - PEBP2A2 - aml1 oncogene - - - gene with protein product - - - - ClinVar - RUNX1 - - - Ensembl - ENSG00000159216 - - - Genatlas - RUNX1 - - - HGNC - 10471 - - - OMIM - 151385 - - - Reactome - Q01196 - - - SwissProt - Q01196 - - - - - 21q22.12 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 22905207[PMID] - - Cbl proto-oncogene - CBL - - RNF55 - c-Cbl - oncogene CBL2 - - - gene with protein product - - - - Ensembl - ENSG00000110395 - - - Genatlas - CBL - - - HGNC - 1541 - - - OMIM - 165360 - - - Reactome - P22681 - - - SwissProt - P22681 - - - ClinVar - CBL - - - - - 11q23.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 98849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98849 - Systemic mastocytosis with associated hematologic neoplasm - - Disease - - - Disorder - - - - - - KIT proto-oncogene, receptor tyrosine kinase - KIT - - C-Kit - CD117 - SCFR - mast/stem cell growth factor receptor Kit - - - gene with protein product - - - - ClinVar - KIT - - - Ensembl - ENSG00000157404 - - - Genatlas - KIT - - - HGNC - 6342 - - - IUPHAR - 1805 - - - OMIM - 164920 - - - Reactome - P10721 - - - SwissProt - P10721 - - - - - 4q12 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 25567135[PMID] - - tet methylcytosine dioxygenase 2 - TET2 - - FLJ20032 - ten-eleven translocation 2 - - - gene with protein product - - - - ClinVar - TET2 - - - Ensembl - ENSG00000168769 - - - Genatlas - TET2 - - - HGNC - 25941 - - - OMIM - 612839 - - - Reactome - Q6N021 - - - SwissProt - Q6N021 - - - - - 4q24 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 25567135[PMID] - - serine and arginine rich splicing factor 2 - SRSF2 - - SC35 - PR264 - SFRS2A - SC-35 - SR splicing factor 2 - - - gene with protein product - - - - OMIM - 600813 - - - SwissProt - Q01130 - - - HGNC - 10783 - - - Ensembl - ENSG00000161547 - - - Reactome - Q01130 - - - Genatlas - SRSF2 - - - ClinVar - SRSF2 - - - - - 17q25.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 25567135[PMID] - - ASXL transcriptional regulator 1 - ASXL1 - - KIAA0978 - - - gene with protein product - - - - Reactome - Q8IXJ9 - - - Ensembl - ENSG00000171456 - - - Genatlas - ASXL1 - - - HGNC - 18318 - - - OMIM - 612990 - - - SwissProt - Q8IXJ9 - - - ClinVar - ASXL1 - - - - - 20q11.21 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 98843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98843 - Classic Hodgkin lymphoma, nodular sclerosis type - - Histopathological subtype - - - Subtype of disorder - - - - 19706467[PMID] - - kelch domain containing 8B - KLHDC8B - - MGC35097 - - - gene with protein product - - - - ClinVar - KLHDC8B - - - Ensembl - ENSG00000185909 - - - Genatlas - KLHDC8B - - - HGNC - 28557 - - - SwissProt - Q8IXV7 - - - OMIM - 613169 - - - - - 3p21.31 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 98839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98839 - Intravascular large B-cell lymphoma - - Disease - - - Disorder - - - - - - BCL6 transcription repressor - BCL6 - - BCL5 - BCL6A - LAZ3 - ZBTB27 - - - gene with protein product - - - - ClinVar - BCL6 - - - Reactome - P41182 - - - IUPHAR - 2957 - - - Ensembl - ENSG00000113916 - - - Genatlas - BCL6 - - - HGNC - 1001 - - - OMIM - 109565 - - - SwissProt - P41182 - - - - - 3q27.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 19040469[PMID] - - BCL2 apoptosis regulator - BCL2 - - Bcl-2 - PPP1R50 - protein phosphatase 1, regulatory subunit 50 - - - gene with protein product - - - - IUPHAR - 2844 - - - ClinVar - BCL2 - - - Ensembl - ENSG00000171791 - - - Genatlas - BCL2 - - - HGNC - 990 - - - OMIM - 151430 - - - Reactome - P10415 - - - SwissProt - P10415 - - - - - 18q21.33 - 1 - - - - - Biomarker tested in - - - Assessed - - - - - - 98842 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98842 - Lymphomatoid papulosis - - Disease - - - Disorder - - - - 25349176[PMID] - - tyrosine kinase 2 - TYK2 - - JTK1 - - - gene with protein product - - - - ClinVar - TYK2 - - - Ensembl - ENSG00000105397 - - - Genatlas - TYK2 - - - HGNC - 12440 - - - IUPHAR - 2269 - - - OMIM - 176941 - - - Reactome - P29597 - - - SwissProt - P29597 - - - - - 19p13.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 25349176[PMID] - - nucleophosmin 1 - NPM1 - - B23 - NPM - Nucleophosmin/nucleoplasmin family, member 1 - Numatrin - nucleolar phosphoprotein B23 - numatrin - nucleophosmin/nucleoplasmin family, member 1 - - - gene with protein product - - - - Ensembl - ENSG00000181163 - - - Genatlas - NPM1 - - - HGNC - 7910 - - - OMIM - 164040 - - - Reactome - P06748 - - - SwissProt - P06748 - - - ClinVar - NPM1 - - - - - 5q35.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 589608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589608 - Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies - - Disease - - - Disorder - - - - 31570889[PMID] - - ras homolog family member A - RHOA - - Rho12 - RhoA - RHOH12 - - - gene with protein product - - - - HGNC - 667 - - - Ensembl - ENSG00000067560 - - - SwissProt - P61586 - - - OMIM - 165390 - - - Genatlas - RHOA - - - Reactome - P61586 - - - ClinVar - RHOA - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 589595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589595 - Mixed phenotype acute leukemia with t(v;11q23.3) - - Etiological subtype - - - Subtype of disorder - - - - 27069254[PMID]_29072953[PMID]_26276768[PMID] - - fms related receptor tyrosine kinase 3 - FLT3 - - CD135 - FLK2 - STK1 - - - gene with protein product - - - - Ensembl - ENSG00000122025 - - - Genatlas - FLT3 - - - HGNC - 3765 - - - IUPHAR - 1807 - - - OMIM - 136351 - - - Reactome - P36888 - - - ClinVar - FLT3 - - - SwissProt - P36888 - - - - - 13q12.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 27069254[PMID]_29072953[PMID]_26276768[PMID] - - lysine methyltransferase 2A - KMT2A - - HTRX - ALL1 - ALL-1 - CXXC7 - HRX - HTRX1 - MLL1A - TRX1 - MLL1 - Histone-lysine N-methyltransferase 2A - - - gene with protein product - - - - ClinVar - KMT2A - - - IUPHAR - 2688 - - - Ensembl - ENSG00000118058 - - - Genatlas - KMT2A - - - HGNC - 7132 - - - OMIM - 159555 - - - Reactome - Q03164 - - - SwissProt - Q03164 - - - - - 11q23.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - ALF transcription elongation factor 1 - AFF1 - - AF-4 - AF4 - FEL - ALL1-fused gene from chromosome 4 - - - gene with protein product - - - - Reactome - P51825 - - - ClinVar - AFF1 - - - Ensembl - ENSG00000172493 - - - Genatlas - AFF1 - - - HGNC - 7135 - - - OMIM - 159557 - - - SwissProt - P51825 - - - - - 4q21.3-q22.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 98868 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98868 - Southeast Asian ovalocytosis - - Disease - - - Disorder - - - - 23664421[PMID]_23339107[PMID] - - solute carrier family 4 member 1 (Diego blood group) - SLC4A1 - - CD233 - FR - Froese blood group - RTA1A - SW - Swann blood group - WR - Wright blood group - EMPB3 - Band 3 anion transport protein - - - gene with protein product - - - - ClinVar - SLC4A1 - - - IUPHAR - 904 - - - OMIM - 109270 - - - Reactome - P02730 - - - SwissProt - P02730 - - - Ensembl - ENSG00000004939 - - - Genatlas - SLC4A1 - - - HGNC - 11027 - - - - - 17q21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98869 - Congenital dyserythropoietic anemia type I - - Disease - - - Disorder - - - - - - codanin 1 - CDAN1 - - CDA-I - CDAI - - - gene with protein product - - - - Reactome - Q8IWY9 - - - Ensembl - ENSG00000140326 - - - Genatlas - CDAN1 - - - HGNC - 1713 - - - OMIM - 607465 - - - SwissProt - Q8IWY9 - - - ClinVar - CDAN1 - - - - - 15q15.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23716552[PMID] - - CDAN1 interacting nuclease 1 - CDIN1 - - FLJ22851 - HH114 - MGC11326 - - - gene with protein product - - - - SwissProt - Q9Y2V0 - - - Ensembl - ENSG00000186073 - - - Genatlas - C15orf41 - - - HGNC - 26929 - - - OMIM - 615626 - - - ClinVar - C15orf41 - - - - - 15q14 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 589618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589618 - Dystonia 28 - - Disease - - - Disorder - - - - 27992417[PMID] - - lysine methyltransferase 2B - KMT2B - - KIAA0304 - WBP7 - TRX2 - HRX2 - MLL4 - MLL2 - MLL1B - CXXC10 - myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4 - Histone-lysine N-methyltransferase 2B - - - gene with protein product - - - - HGNC - 15840 - - - SwissProt - Q9UMN6 - - - IUPHAR - 2689 - - - Ensembl - ENSG00000272333 - - - Genatlas - KMT2B - - - OMIM - 606834 - - - ClinVar - KMT2B - - - - - 19q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98870 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98870 - Congenital dyserythropoietic anemia type III - - Disease - - - Disorder - - - - 23570799[PMID] - - kinesin family member 23 - KIF23 - - MKLP-1 - MKLP1 - - - gene with protein product - - - - Ensembl - ENSG00000137807 - - - Genatlas - KIF23 - - - HGNC - 6392 - - - OMIM - 605064 - - - Reactome - Q02241 - - - SwissProt - Q02241 - - - ClinVar - KIF23 - - - - - 15q23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - Rac GTPase activating protein 1 - RACGAP1 - - CYK4 - MgcRacGAP - - - gene with protein product - - - - Ensembl - ENSG00000161800 - - - OMIM - 604980 - - - SwissProt - Q9H0H5 - - - HGNC - 9804 - - - - - 12q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 589534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589534 - Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) - - Etiological subtype - - - Subtype of disorder - - - - 27069254[PMID]_29072953[PMID]_26276768[PMID] - - fms related receptor tyrosine kinase 3 - FLT3 - - CD135 - FLK2 - STK1 - - - gene with protein product - - - - Ensembl - ENSG00000122025 - - - Genatlas - FLT3 - - - HGNC - 3765 - - - IUPHAR - 1807 - - - OMIM - 136351 - - - Reactome - P36888 - - - ClinVar - FLT3 - - - SwissProt - P36888 - - - - - 13q12.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 27069254[PMID]_29072953[PMID]_26276768[PMID] - - lysine methyltransferase 2A - KMT2A - - HTRX - ALL1 - ALL-1 - CXXC7 - HRX - HTRX1 - MLL1A - TRX1 - MLL1 - Histone-lysine N-methyltransferase 2A - - - gene with protein product - - - - ClinVar - KMT2A - - - IUPHAR - 2688 - - - Ensembl - ENSG00000118058 - - - Genatlas - KMT2A - - - HGNC - 7132 - - - OMIM - 159555 - - - Reactome - Q03164 - - - SwissProt - Q03164 - - - - - 11q23.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 98863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98863 - X-linked Emery-Dreifuss muscular dystrophy - - Etiological subtype - - - Subtype of disorder - - - - - - emerin - EMD - - LEM domain containing 5 - LEMD5 - STA - - - gene with protein product - - - - ClinVar - EMD - - - Ensembl - ENSG00000102119 - - - Genatlas - EMD - - - HGNC - 3331 - - - OMIM - 300384 - - - Reactome - P50402 - - - SwissProt - P50402 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - four and a half LIM domains 1 - FHL1 - - FHL1B - FLH1A - Four-and-a-half LIM domains 1 - KYO-T - LIM protein SLIMMER - MGC111107 - SLIM1 - XMPMA - bA535K18.1 - - - gene with protein product - - - - Ensembl - ENSG00000022267 - - - Genatlas - FHL1 - - - HGNC - 3702 - - - OMIM - 300163 - - - SwissProt - Q13642 - - - ClinVar - FHL1 - - - Reactome - Q13642 - - - - - Xq26.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 589527 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589527 - Spinocerebellar ataxia type 45 - - Disease - - - Disorder - - - - 29053796[PMID] - - FAT atypical cadherin 2 - FAT2 - - MEGF1 - CDHF8 - HFAT2 - CDHR9 - cadherin-related family member 9 - multiple EGF like domains 1 - - - gene with protein product - - - - OMIM - 604269 - - - Ensembl - ENSG00000086570 - - - HGNC - 3596 - - - SwissProt - Q9NYQ8 - - - - - 5q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 589547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589547 - GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder - - Disease - - - Disorder - - - - 29851452[PMID] - - glutamate ionotropic receptor NMDA type subunit 2B - GRIN2B - - GluN2B - NR2B - - - gene with protein product - - - - Ensembl - ENSG00000273079 - - - Genatlas - GRIN2B - - - HGNC - 4586 - - - IUPHAR - 457 - - - OMIM - 138252 - - - Reactome - Q13224 - - - SwissProt - Q13224 - - - ClinVar - GRIN2B - - - - - 12p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 589442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589442 - Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome - - Malformation syndrome - - - Disorder - - - - 31263216[PMID] - - phosphatidylserine decarboxylase - PISD - - dJ858B16.2 - PSDC - - - gene with protein product - - - - SwissProt - Q9UG56 - - - HGNC - 8999 - - - OMIM - 612770 - - - IUPHAR - 1277 - - - Ensembl - ENSG00000241878 - - - - - 22q12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 589435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589435 - Spondylometaphyseal dysplasia-corneal dystrophy syndrome - - Malformation syndrome - - - Disorder - - - - 29122926[PMID] - - phospholipase C beta 3 - PLCB3 - - - - gene with protein product - - - - IUPHAR - 1405 - - - ClinVar - PLCB3 - - - HGNC - 9056 - - - Ensembl - ENSG00000149782 - - - SwissProt - Q01970 - - - OMIM - 600230 - - - Genatlas - PLCB3 - - - Reactome - Q01970 - - - - - 11q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 589522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589522 - Spinocerebellar ataxia type 46 - - Disease - - - Disorder - - - - 29847346[PMID] - - phospholipase D family member 3 - PLD3 - - HU-K4 - - - gene with protein product - - - - HGNC - 17158 - - - OMIM - 615698 - - - Genatlas - PLD3 - - - SwissProt - Q8IV08 - - - Reactome - Q8IV08 - - - Ensembl - ENSG00000105223 - - - ClinVar - PLD3 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 589515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589515 - PUM1-associated developmental disability-ataxia-seizure syndrome - - Disease - - - Disorder - - - - 30903679[PMID] - - pumilio RNA binding family member 1 - PUM1 - - KIAA0099 - PUMH1 - - - gene with protein product - - - - Ensembl - ENSG00000134644 - - - HGNC - 14957 - - - OMIM - 607204 - - - SwissProt - Q14671 - - - - - 1p35.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98855 - Autosomal recessive Emery-Dreifuss muscular dystrophy - - Etiological subtype - - - Subtype of disorder - - - - - - lamin A/C - LMNA - - HGPS - MADA - mandibuloacral dysplasia type A - progerin - - - gene with protein product - - - - ClinVar - LMNA - - - Ensembl - ENSG00000160789 - - - Genatlas - LMNA - - - HGNC - 6636 - - - OMIM - 150330 - - - Reactome - P02545 - - - SwissProt - P02545 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98856 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98856 - Charcot-Marie-Tooth disease type 2B1 - - Disease - - - Disorder - - - - 20301462[PMID] - - lamin A/C - LMNA - - HGPS - MADA - mandibuloacral dysplasia type A - progerin - - - gene with protein product - - - - ClinVar - LMNA - - - Ensembl - ENSG00000160789 - - - Genatlas - LMNA - - - HGNC - 6636 - - - OMIM - 150330 - - - Reactome - P02545 - - - SwissProt - P02545 - - - - - 1q22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98881 - Familial dysfibrinogenemia - - Clinical subtype - - - Subtype of disorder - - - - 25320241[PMID] - - fibrinogen alpha chain - FGA - - - - gene with protein product - - - - ClinVar - FGA - - - Ensembl - ENSG00000171560 - - - Genatlas - FGA - - - HGNC - 3661 - - - OMIM - 134820 - - - Reactome - P02671 - - - SwissProt - P02671 - - - - - 4q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25320241[PMID] - - fibrinogen beta chain - FGB - - - - gene with protein product - - - - ClinVar - FGB - - - Ensembl - ENSG00000171564 - - - Genatlas - FGB - - - HGNC - 3662 - - - OMIM - 134830 - - - Reactome - P02675 - - - SwissProt - P02675 - - - - - 4q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25320241[PMID] - - fibrinogen gamma chain - FGG - - - - gene with protein product - - - - Ensembl - ENSG00000171557 - - - Genatlas - FGG - - - HGNC - 3694 - - - OMIM - 134850 - - - Reactome - P02679 - - - SwissProt - P02679 - - - ClinVar - FGG - - - - - 4q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98880 - Familial afibrinogenemia - - Clinical subtype - - - Subtype of disorder - - - - 11460507[PMID]_17295221[PMID] - - fibrinogen alpha chain - FGA - - - - gene with protein product - - - - ClinVar - FGA - - - Ensembl - ENSG00000171560 - - - Genatlas - FGA - - - HGNC - 3661 - - - OMIM - 134820 - - - Reactome - P02671 - - - SwissProt - P02671 - - - - - 4q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11460507[PMID]_17295221[PMID] - - fibrinogen beta chain - FGB - - - - gene with protein product - - - - ClinVar - FGB - - - Ensembl - ENSG00000171564 - - - Genatlas - FGB - - - HGNC - 3662 - - - OMIM - 134830 - - - Reactome - P02675 - - - SwissProt - P02675 - - - - - 4q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11460507[PMID]_17295221[PMID] - - fibrinogen gamma chain - FGG - - - - gene with protein product - - - - Ensembl - ENSG00000171557 - - - Genatlas - FGG - - - HGNC - 3694 - - - OMIM - 134850 - - - Reactome - P02679 - - - SwissProt - P02679 - - - ClinVar - FGG - - - - - 4q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98885 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98885 - Bleeding diathesis due to glycoprotein VI deficiency - - Etiological subtype - - - Subtype of disorder - - - - 19549989[PMID]_19552682[PMID] - - glycoprotein VI platelet - GP6 - - GPVI - platelet glycoprotein VI - - - gene with protein product - - - - ClinVar - GP6 - - - Ensembl - ENSG00000088053 - - - Genatlas - GP6 - - - HGNC - 14388 - - - OMIM - 605546 - - - Reactome - Q9HCN6 - - - SwissProt - Q9HCN6 - - - - - 19q13.42 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 98873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98873 - Congenital dyserythropoietic anemia type II - - Disease - - - Disorder - - - - - - SEC23 homolog B, COPII coat complex component - SEC23B - - CDA-II - CDAII - HEMPAS - - - gene with protein product - - - - Reactome - Q15437 - - - Ensembl - ENSG00000101310 - - - Genatlas - SEC23B - - - HGNC - 10702 - - - OMIM - 610512 - - - SwissProt - Q15437 - - - ClinVar - SEC23B - - - - - 20p11.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 98897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98897 - Oculopharyngodistal myopathy - - Disease - - - Disorder - - - - 33693509[PMID] - - notch 2 N-terminal like C - NOTCH2NLC - - - - gene with protein product - - - - OMIM - 618025 - - - HGNC - 53924 - - - Ensembl - ENSG00000286219 - - - SwissProt - P0DPK4 - - - - - 1q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31332380[PMID] - - LDL receptor related protein 12 - LRP12 - - FLJ12929 - ST7 - - - gene with protein product - - - - HGNC - 31708 - - - Ensembl - ENSG00000147650 - - - OMIM - 618299 - - - SwissProt - Q9Y561 - - - - - 8q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33374016[PMID] - - GIPC PDZ domain containing family member 1 - GIPC1 - - GIPC - SYNECTIN - SEMCAP - Hs.6454 - TIP-2 - NIP - GLUT1CBP - - - gene with protein product - - - - SwissProt - O14908 - - - Ensembl - ENSG00000123159 - - - HGNC - 1226 - - - OMIM - 605072 - - - - - 19p13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 39068203[PMID] - - ATP binding cassette subfamily D member 3 - ABCD3 - - PMP70 - peroxisomal membrane protein 70 kDa - ZWS2 - - - gene with protein product - - - - SwissProt - P28288 - - - HGNC - 67 - - - Ensembl - ENSG00000117528 - - - OMIM - 170995 - - - IUPHAR - 790 - - - - - 1p21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 37923380[PMID] - - NUTM2B antisense RNA 1 - NUTM2B-AS1 - - - - Non-coding RNA - - - - Ensembl - ENSG00000225484 - - - HGNC - 51204 - - - OMIM - 618639 - - - - - 10q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35700120[PMID] - - Rab interacting lysosomal protein like 1 - RILPL1 - - FLJ39378 - - - gene with protein product - - - - Ensembl - ENSG00000188026 - - - OMIM - 614092 - - - SwissProt - Q5EBL4 - - - HGNC - 26814 - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98895 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98895 - Becker muscular dystrophy - - Disease - - - Disorder - - - - - - dystrophin - DMD - - BMD - DXS142 - DXS164 - DXS206 - DXS230 - DXS239 - DXS268 - DXS269 - DXS270 - DXS272 - muscular dystrophy, Duchenne and Becker types - - - gene with protein product - - - - Ensembl - ENSG00000198947 - - - Genatlas - DMD - - - HGNC - 2928 - - - OMIM - 300377 - - - Reactome - P11532 - - - SwissProt - P11532 - - - ClinVar - DMD - - - - - Xp21.2-p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98896 - Duchenne muscular dystrophy - - Disease - - - Disorder - - - - - - dystrophin - DMD - - BMD - DXS142 - DXS164 - DXS206 - DXS230 - DXS239 - DXS268 - DXS269 - DXS270 - DXS272 - muscular dystrophy, Duchenne and Becker types - - - gene with protein product - - - - Ensembl - ENSG00000198947 - - - Genatlas - DMD - - - HGNC - 2928 - - - OMIM - 300377 - - - Reactome - P11532 - - - SwissProt - P11532 - - - ClinVar - DMD - - - - - Xp21.2-p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23440719[PMID] - - latent transforming growth factor beta binding protein 4 - LTBP4 - - FLJ46318 - FLJ90018 - LTBP-4 - LTBP-4L - - - gene with protein product - - - - Ensembl - ENSG00000090006 - - - Genatlas - LTBP4 - - - HGNC - 6717 - - - OMIM - 604710 - - - Reactome - Q8N2S1 - - - SwissProt - Q8N2S1 - - - ClinVar - LTBP4 - - - - - 19q13.2 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - - - 98902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98902 - Amish nemaline myopathy - - Disease - - - Disorder - - - - 10952871[PMID] - - troponin T1, slow skeletal type - TNNT1 - - FLJ98147 - MGC104241 - NEM5 - STNT - TNT - TNTS - nemaline myopathy type 5 - slow skeletal muscle troponin T - troponin T1, skeletal, slow - ANM - - - gene with protein product - - - - Ensembl - ENSG00000105048 - - - Genatlas - TNNT1 - - - HGNC - 11948 - - - OMIM - 191041 - - - Reactome - P13805 - - - SwissProt - P13805 - - - ClinVar - TNNT1 - - - - - 19q13.42 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98889 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98889 - Bilateral perisylvian polymicrogyria - - Clinical subtype - - - Subtype of disorder - - - - 16497722[PMID] - - sushi repeat containing protein X-linked 2 - SRPX2 - - SRPUL - - - gene with protein product - - - - Ensembl - ENSG00000102359 - - - Genatlas - SRPX2 - - - HGNC - 30668 - - - OMIM - 300642 - - - SwissProt - O60687 - - - ClinVar - SRPX2 - - - - - Xq22.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 24531968[PMID] - - adhesion G protein-coupled receptor G1 - ADGRG1 - - TM7LN4 - TM7XN1 - - - gene with protein product - - - - ClinVar - GPR56 - - - Ensembl - ENSG00000205336 - - - Genatlas - GPR56 - - - HGNC - 4512 - - - IUPHAR - 186 - - - OMIM - 604110 - - - SwissProt - Q9Y653 - - - - - 16q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25855803[PMID] - - phosphatidylinositol 4-kinase alpha - PI4KA - - phosphatidylinositol 4-kinase III alpha - PI4K-ALPHA - pi4K230 - phosphatidylinositol 4-kinase IIIa - - - gene with protein product - - - - Ensembl - ENSG00000241973 - - - Genatlas - PI4KA - - - HGNC - 8983 - - - IUPHAR - 2148 - - - OMIM - 600286 - - - Reactome - P42356 - - - SwissProt - P42356 - - - ClinVar - PI4KA - - - - - 22q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98890 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98890 - Early-onset X-linked optic atrophy - - Disease - - - Disorder - - - - - - optic atrophy 2 (obscure) - OPA2 - - - - Disorder-associated locus - - - - SwissProt - - - - HGNC - 8141 - - - Ensembl - - - - OMIM - - - - - - Xp11.4-p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98892 - Periventricular nodular heterotopia - - Clinical subtype - - - Subtype of disorder - - - - 14647276[PMID]_25160555[PMID] - - ARF guanine nucleotide exchange factor 2 - ARFGEF2 - - BIG2 - Brefeldin A-inhibited guanine nucleotide-exchange protein 2 - - - gene with protein product - - - - ClinVar - ARFGEF2 - - - Ensembl - ENSG00000124198 - - - Genatlas - ARFGEF2 - - - HGNC - 15853 - - - OMIM - 605371 - - - Reactome - Q9Y6D5 - - - SwissProt - Q9Y6D5 - - - - - 20q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301392[PMID] - - filamin A - FLNA - - ABP-280 - actin binding protein 280 - alpha filamin - - - gene with protein product - - - - Ensembl - ENSG00000196924 - - - Genatlas - FLNA - - - HGNC - 3754 - - - OMIM - 300017 - - - Reactome - P21333 - - - SwissProt - P21333 - - - ClinVar - FLNA - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24056535[PMID] - - ER membrane associated RNA degradation - ERMARD - - FLJ11152 - dJ266L20.3 - - - gene with protein product - - - - ClinVar - C6orf70 - - - Ensembl - ENSG00000130023 - - - Genatlas - C6orf70 - - - HGNC - 21056 - - - OMIM - 615532 - - - SwissProt - Q5T6L9 - - - - - 6q27 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27694961[PMID] - - NEDD4 like E3 ubiquitin protein ligase - NEDD4L - - NEDD4-2 - RSP5 - KIAA0439 - - - gene with protein product - - - - ClinVar - NEDD4L - - - Reactome - Q96PU5 - - - HGNC - 7728 - - - OMIM - 606384 - - - Genatlas - NEDD4L - - - Ensembl - ENSG00000049759 - - - SwissProt - Q96PU5 - - - - - 18q21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28973161[PMID] - - transmembrane O-mannosyltransferase targeting cadherins 3 - TMTC3 - - FLJ90492 - SMILE - - - gene with protein product - - - - ClinVar - TMTC3 - - - SwissProt - Q6ZXV5 - - - HGNC - 26899 - - - Ensembl - ENSG00000139324 - - - OMIM - 617218 - - - Genatlas - TMTC3 - - - Reactome - Q6ZXV5 - - - - - 12q21.32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 28868155[PMID] - - ARF GTPase 1 - ARF1 - - - - gene with protein product - - - - Ensembl - ENSG00000143761 - - - HGNC - 652 - - - SwissProt - P84077 - - - Reactome - P84077 - - - OMIM - 103180 - - - - - 1q42.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29738522[PMID] - - microtubule associated protein 1B - MAP1B - - MAP5 - PPP1R102 - protein phosphatase 1, regulatory subunit 102 - - - gene with protein product - - - - HGNC - 6836 - - - Ensembl - ENSG00000131711 - - - SwissProt - P46821 - - - OMIM - 157129 - - - Genatlas - MAP1B - - - Reactome - P46821 - - - ClinVar - MAP1B - - - - - 5q13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 98912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98912 - Late-onset distal myopathy, Markesbery-Griggs type - - Disease - - - Disorder - - - - 20809097[PMID] - - LIM domain binding 3 - LDB3 - - KIAA0613 - PDLIM6 - Z-band alternatively spliced PDZ motif protein - ZASP - cypher - oracle - - - gene with protein product - - - - Ensembl - ENSG00000122367 - - - Genatlas - LDB3 - - - HGNC - 15710 - - - OMIM - 605906 - - - SwissProt - O75112 - - - ClinVar - LDB3 - - - - - 10q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98911 - Distal myotilinopathy - - Disease - - - Disorder - - - - 15111675[PMID]_16793270[PMID]_21361873[PMID] - - myotilin - MYOT - - - - gene with protein product - - - - Reactome - Q9UBF9 - - - Ensembl - ENSG00000120729 - - - Genatlas - MYOT - - - HGNC - 12399 - - - OMIM - 604103 - - - SwissProt - Q9UBF9 - - - ClinVar - MYOT - - - - - 5q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98914 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98914 - Presynaptic congenital myasthenic syndromes - - Etiological subtype - - - Subtype of disorder - - - - 20301347[PMID] - - choline O-acetyltransferase - CHAT - - CHOACTase - - - gene with protein product - - - - Ensembl - ENSG00000070748 - - - Genatlas - CHAT - - - HGNC - 1912 - - - OMIM - 118490 - - - Reactome - P28329 - - - IUPHAR - 2480 - - - SwissProt - P28329 - - - ClinVar - CHAT - - - - - 10q11.23 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22205389[PMID]_19631309[PMID]_20301347[PMID] - - agrin - AGRN - - AGRIN - - - gene with protein product - - - - Ensembl - ENSG00000188157 - - - Genatlas - AGRN - - - HGNC - 329 - - - OMIM - 103320 - - - Reactome - O00468 - - - SwissProt - O00468 - - - ClinVar - AGRN - - - - - 1p36.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - solute carrier family 25 member 1 - SLC25A1 - - Tricarboxylate transport protein, mitochondrial - citrate transport protein - CTP - CIC - citrate isocitrate carrier - - - gene with protein product - - - - Genatlas - SLC25A1 - - - HGNC - 10979 - - - OMIM - 190315 - - - Reactome - P53007 - - - SwissProt - P53007 - - - ClinVar - SLC25A1 - - - IUPHAR - 1051 - - - Ensembl - ENSG00000100075 - - - - - 22q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25381298[PMID]_25792100[PMID] - - synaptosome associated protein 25 - SNAP25 - - RIC-4 - RIC4 - SEC9 - SNAP-25 - bA416N4.2 - dJ1068F16.2 - resistance to inhibitors of cholinesterase 4 homolog - - - gene with protein product - - - - Ensembl - ENSG00000132639 - - - Genatlas - SNAP25 - - - HGNC - 11132 - - - OMIM - 600322 - - - Reactome - P60880 - - - SwissProt - P60880 - - - ClinVar - SNAP25 - - - - - 20p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25192047[PMID] - - synaptotagmin 2 - SYT2 - - - - gene with protein product - - - - ClinVar - SYT2 - - - Ensembl - ENSG00000143858 - - - Genatlas - SYT2 - - - HGNC - 11510 - - - OMIM - 600104 - - - Reactome - Q8N9I0 - - - SwissProt - Q8N9I0 - - - - - 1q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27259756[PMID] - - myosin IXA - MYO9A - - FLJ11061 - FLJ13244 - MGC71859 - - - gene with protein product - - - - ClinVar - MYO9A - - - HGNC - 7608 - - - OMIM - 604875 - - - Genatlas - MYO9A - - - SwissProt - B2RTY4 - - - Reactome - B2RTY4 - - - Ensembl - ENSG00000066933 - - - - - 15q23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27569547[PMID] - - solute carrier family 5 member 7 - SLC5A7 - - ChT - High affinity choline transporter 1 - hCHT - CHT1 - - - gene with protein product - - - - OMIM - 608761 - - - Reactome - Q9GZV3 - - - SwissProt - Q9GZV3 - - - Ensembl - ENSG00000115665 - - - Genatlas - SLC5A7 - - - HGNC - 14025 - - - IUPHAR - 914 - - - ClinVar - SLC5A7 - - - - - 2q12.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 28253535[PMID] - - vesicle associated membrane protein 1 - VAMP1 - - VAMP-1 - - - gene with protein product - - - - Ensembl - ENSG00000139190 - - - Genatlas - VAMP1 - - - HGNC - 12642 - - - OMIM - 185880 - - - Reactome - P23763 - - - SwissProt - P23763 - - - ClinVar - VAMP1 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27590285[PMID] - - solute carrier family 18 member A3 - SLC18A3 - - VACHT - - - gene with protein product - - - - Genatlas - SLC18A3 - - - OMIM - 600336 - - - SwissProt - Q16572 - - - Ensembl - ENSG00000187714 - - - Reactome - Q16572 - - - ClinVar - SLC18A3 - - - IUPHAR - 1013 - - - HGNC - 10936 - - - - - 10q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26626625[PMID] - - collagen type XIII alpha 1 chain - COL13A1 - - - - gene with protein product - - - - Ensembl - ENSG00000197467 - - - Genatlas - COL13A1 - - - HGNC - 2190 - - - OMIM - 120350 - - - Reactome - Q5TAT6 - - - SwissProt - Q5TAT6 - - - ClinVar - COL13A1 - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 98913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98913 - Postsynaptic congenital myasthenic syndromes - - Etiological subtype - - - Subtype of disorder - - - - 20301347[PMID] - - receptor associated protein of the synapse - RAPSN - - CMS1D - CMS1E - RNF205 - rapsyn - - - gene with protein product - - - - ClinVar - RAPSN - - - HGNC - 9863 - - - OMIM - 601592 - - - SwissProt - Q13702 - - - Ensembl - ENSG00000165917 - - - Genatlas - RAPSN - - - - - 11p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301347[PMID] - - sodium voltage-gated channel alpha subunit 4 - SCN4A - - HYPP - Nav1.4 - SkM1 - - - gene with protein product - - - - ClinVar - SCN4A - - - Genatlas - SCN4A - - - HGNC - 10591 - - - IUPHAR - 581 - - - OMIM - 603967 - - - Reactome - P35499 - - - SwissProt - P35499 - - - Ensembl - ENSG00000007314 - - - - - 17q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301347[PMID] - - cholinergic receptor nicotinic alpha 1 subunit - CHRNA1 - - acetylcholine receptor, nicotinic, alpha 1 (muscle) - - - gene with protein product - - - - Ensembl - ENSG00000138435 - - - Genatlas - CHRNA1 - - - HGNC - 1955 - - - IUPHAR - 462 - - - OMIM - 100690 - - - Reactome - P02708 - - - SwissProt - P02708 - - - ClinVar - CHRNA1 - - - - - 2q31.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301347[PMID] - - cholinergic receptor nicotinic alpha 1 subunit - CHRNA1 - - acetylcholine receptor, nicotinic, alpha 1 (muscle) - - - gene with protein product - - - - Ensembl - ENSG00000138435 - - - Genatlas - CHRNA1 - - - HGNC - 1955 - - - IUPHAR - 462 - - - OMIM - 100690 - - - Reactome - P02708 - - - SwissProt - P02708 - - - ClinVar - CHRNA1 - - - - - 2q31.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 20301347[PMID] - - cholinergic receptor nicotinic beta 1 subunit - CHRNB1 - - acetylcholine receptor, nicotinic, beta 1 (muscle) - - - gene with protein product - - - - Ensembl - ENSG00000170175 - - - Genatlas - CHRNB1 - - - HGNC - 1961 - - - IUPHAR - 471 - - - OMIM - 100710 - - - SwissProt - P11230 - - - ClinVar - CHRNB1 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301347[PMID] - - cholinergic receptor nicotinic beta 1 subunit - CHRNB1 - - acetylcholine receptor, nicotinic, beta 1 (muscle) - - - gene with protein product - - - - Ensembl - ENSG00000170175 - - - Genatlas - CHRNB1 - - - HGNC - 1961 - - - IUPHAR - 471 - - - OMIM - 100710 - - - SwissProt - P11230 - - - ClinVar - CHRNB1 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 20301347[PMID] - - cholinergic receptor nicotinic delta subunit - CHRND - - acetylcholine receptor, nicotinic, delta (muscle) - - - gene with protein product - - - - Ensembl - ENSG00000135902 - - - Genatlas - CHRND - - - HGNC - 1965 - - - IUPHAR - 476 - - - OMIM - 100720 - - - Reactome - Q07001 - - - SwissProt - Q07001 - - - ClinVar - CHRND - - - - - 2q37.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301347[PMID] - - cholinergic receptor nicotinic delta subunit - CHRND - - acetylcholine receptor, nicotinic, delta (muscle) - - - gene with protein product - - - - Ensembl - ENSG00000135902 - - - Genatlas - CHRND - - - HGNC - 1965 - - - IUPHAR - 476 - - - OMIM - 100720 - - - Reactome - Q07001 - - - SwissProt - Q07001 - - - ClinVar - CHRND - - - - - 2q37.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 20301347[PMID] - - cholinergic receptor nicotinic epsilon subunit - CHRNE - - ACHRE - acetylcholine receptor, nicotinic, epsilon (muscle) - - - gene with protein product - - - - SwissProt - Q04844 - - - Ensembl - ENSG00000108556 - - - Genatlas - CHRNE - - - HGNC - 1966 - - - IUPHAR - 477 - - - OMIM - 100725 - - - Reactome - Q04844 - - - ClinVar - CHRNE - - - - - 17p13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301347[PMID] - - cholinergic receptor nicotinic epsilon subunit - CHRNE - - ACHRE - acetylcholine receptor, nicotinic, epsilon (muscle) - - - gene with protein product - - - - SwissProt - Q04844 - - - Ensembl - ENSG00000108556 - - - Genatlas - CHRNE - - - HGNC - 1966 - - - IUPHAR - 477 - - - OMIM - 100725 - - - Reactome - Q04844 - - - ClinVar - CHRNE - - - - - 17p13.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 20301347[PMID] - - docking protein 7 - DOK7 - - Dok-7 - FLJ33718 - FLJ39137 - - - gene with protein product - - - - ClinVar - DOK7 - - - Reactome - Q18PE1 - - - Ensembl - ENSG00000175920 - - - Genatlas - DOK7 - - - HGNC - 26594 - - - OMIM - 610285 - - - SwissProt - Q18PE1 - - - - - 4p16.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301347[PMID] - - muscle associated receptor tyrosine kinase - MUSK - - - - gene with protein product - - - - Ensembl - ENSG00000030304 - - - Genatlas - MUSK - - - HGNC - 7525 - - - IUPHAR - 1847 - - - OMIM - 601296 - - - Reactome - O15146 - - - SwissProt - O15146 - - - ClinVar - MUSK - - - - - 9q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24234652[PMID] - - LDL receptor related protein 4 - LRP4 - - CLSS - LRP-4 - MEGF7 - SOST2 - multiple EGF like domains 7 - - - gene with protein product - - - - ClinVar - LRP4 - - - Ensembl - ENSG00000134569 - - - Genatlas - LRP4 - - - HGNC - 6696 - - - OMIM - 604270 - - - Reactome - O75096 - - - SwissProt - O75096 - - - - - 11p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22205389[PMID]_19631309[PMID]_20301347[PMID] - - agrin - AGRN - - AGRIN - - - gene with protein product - - - - Ensembl - ENSG00000188157 - - - Genatlas - AGRN - - - HGNC - 329 - - - OMIM - 103320 - - - Reactome - O00468 - - - SwissProt - O00468 - - - ClinVar - AGRN - - - - - 1p36.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27966543[PMID] - - adenylate kinase 9 - AK9 - - dJ70A9.1 - FLJ25791 - FLJ42177 - MGC26954 - - - gene with protein product - - - - SwissProt - Q5TCS8 - - - OMIM - 615358 - - - Reactome - R-HSA-6788784 - - - HGNC - 33814 - - - Ensembl - ENSG00000155085 - - - - - 6q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26626625[PMID] - - collagen type XIII alpha 1 chain - COL13A1 - - - - gene with protein product - - - - Ensembl - ENSG00000197467 - - - Genatlas - COL13A1 - - - HGNC - 2190 - - - OMIM - 120350 - - - Reactome - Q5TAT6 - - - SwissProt - Q5TAT6 - - - ClinVar - COL13A1 - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 98916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98916 - Acute inflammatory demyelinating polyradiculoneuropathy - - Disease - - - Disorder - - - - 12439896[PMID] - - peripheral myelin protein 22 - PMP22 - - GAS3 - HNPP - Sp110 - HMSNIA - - - gene with protein product - - - - Reactome - Q01453 - - - ClinVar - PMP22 - - - Ensembl - ENSG00000109099 - - - Genatlas - PMP22 - - - HGNC - 9118 - - - OMIM - 601097 - - - SwissProt - Q01453 - - - - - 17p12 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 98915 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98915 - Synaptic congenital myasthenic syndromes - - Etiological subtype - - - Subtype of disorder - - - - 20301347[PMID] - - collagen like tail subunit of asymmetric acetylcholinesterase - COLQ - - AChE Q subunit - EAD - acetylcholinesterase-associated collagen - collagenic tail of endplate acetylcholinesterase - single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase - - - gene with protein product - - - - ClinVar - COLQ - - - Ensembl - ENSG00000206561 - - - Genatlas - COLQ - - - HGNC - 2226 - - - OMIM - 603033 - - - SwissProt - Q9Y215 - - - - - 3p25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19251977[PMID]_25792100[PMID] - - laminin subunit beta 2 - LAMB2 - - NPHS5 - laminin S - - - gene with protein product - - - - ClinVar - LAMB2 - - - Ensembl - ENSG00000172037 - - - Genatlas - LAMB2 - - - HGNC - 6487 - - - OMIM - 150325 - - - Reactome - P55268 - - - SwissProt - P55268 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98904 - Congenital myopathy with excess of thin filaments - - Disease - - - Disorder - - - - 10508519[PMID] - - actin alpha 1, skeletal muscle - ACTA1 - - NEM3 - nemaline myopathy type 3 - - - gene with protein product - - - - ClinVar - ACTA1 - - - OMIM - 102610 - - - Reactome - P68133 - - - SwissProt - P68133 - - - Ensembl - ENSG00000143632 - - - Genatlas - ACTA1 - - - HGNC - 129 - - - - - 1q42.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98905 - Congenital multicore myopathy with external ophthalmoplegia - - Clinical subtype - - - Subtype of disorder - - - - 20301467[PMID]_12719381[PMID]_16380615[PMID] - - ryanodine receptor 1 - RYR1 - - PPP1R137 - RYR - protein phosphatase 1, regulatory subunit 137 - - - gene with protein product - - - - ClinVar - RYR1 - - - Ensembl - ENSG00000196218 - - - Genatlas - RYR1 - - - HGNC - 10483 - - - IUPHAR - 747 - - - OMIM - 180901 - - - Reactome - P21817 - - - SwissProt - P21817 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98908 - Neutral lipid storage disease with myopathy - - Disease - - - Disorder - - - - 17187067[PMID] - - patatin like domain 2, triacylglycerol lipase - PNPLA2 - - ATGL - FP17548 - TTS-2.2 - desnutrin - iPLA2zeta - adipose triglyceride lipase - - - gene with protein product - - - - IUPHAR - 3253 - - - Ensembl - ENSG00000177666 - - - Genatlas - PNPLA2 - - - HGNC - 30802 - - - OMIM - 609059 - - - Reactome - Q96AD5 - - - SwissProt - Q96AD5 - - - ClinVar - PNPLA2 - - - - - 11p15.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98907 - Neutral lipid storage disease with ichthyosis - - Disease - - - Disorder - - - - 18606822[PMID] - - abhydrolase domain containing 5, lysophosphatidic acid acyltransferase - ABHD5 - - CGI-58 - NCIE2 - - - gene with protein product - - - - ClinVar - ABHD5 - - - Ensembl - ENSG00000011198 - - - Genatlas - ABHD5 - - - HGNC - 21396 - - - OMIM - 604780 - - - Reactome - Q8WTS1 - - - SwissProt - Q8WTS1 - - - - - 3p21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98909 - Desminopathy - - Disease - - - Disorder - - - - 11668632[PMID] - - desmin - DES - - CMD1I - CSM1 - CSM2 - intermediate filament protein - LGMD2R - cardiomyopathy, dilated 1I - - - gene with protein product - - - - ClinVar - DES - - - Ensembl - ENSG00000175084 - - - Genatlas - DES - - - HGNC - 2770 - - - OMIM - 125660 - - - Reactome - P17661 - - - SwissProt - P17661 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98933 - Multiple system atrophy, parkinsonian type - - Clinical subtype - - - Subtype of disorder - - - - 23758206[PMID] - - coenzyme Q2, polyprenyltransferase - COQ2 - - 4-hydroxybenzoate polyprenyltransferase - CL640 - FLJ26072 - - - gene with protein product - - - - ClinVar - COQ2 - - - Ensembl - ENSG00000173085 - - - Genatlas - COQ2 - - - HGNC - 25223 - - - OMIM - 609825 - - - Reactome - Q96H96 - - - SwissProt - Q96H96 - - - - - 4q21.23 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 98934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98934 - Huntington disease-like 2 - - Disease - - - Disorder - - - - - - junctophilin 3 - JPH3 - - junctophilin3 - CAGL237 - HDL2 - JP-3 - JP3 - - - gene with protein product - - - - Ensembl - ENSG00000154118 - - - Genatlas - JPH3 - - - HGNC - 14203 - - - OMIM - 605268 - - - SwissProt - Q8WXH2 - - - ClinVar - JPH3 - - - - - 16q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98920 - Spinal muscular atrophy with respiratory distress type 1 - - Disease - - - Disorder - - - - 11528396[PMID] - - immunoglobulin mu DNA binding protein 2 - IGHMBP2 - - CATF1 - CMT2S - HCSA - HMN6 - SMARD1 - SMUBP2 - ZFAND7 - cardiac transcription factor 1 - zinc finger, AN1-type domain 7 - - - gene with protein product - - - - ClinVar - IGHMBP2 - - - Ensembl - ENSG00000132740 - - - Genatlas - IGHMBP2 - - - HGNC - 5542 - - - OMIM - 600502 - - - SwissProt - P38935 - - - - - 11q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98942 - Coloboma of choroid and retina - - Morphological anomaly - - - Disorder - - - - 28493397[PMID] - - actin gamma 1 - ACTG1 - - - - gene with protein product - - - - ClinVar - ACTG1 - - - Ensembl - ENSG00000184009 - - - Genatlas - ACTG1 - - - HGNC - 144 - - - OMIM - 102560 - - - Reactome - P63261 - - - SwissProt - P63261 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26908622[PMID] - - frizzled class receptor 5 - FZD5 - - DKFZP434E2135 - HFZ5 - - - gene with protein product - - - - HGNC - 4043 - - - OMIM - 601723 - - - Genatlas - FZD5 - - - SwissProt - Q13467 - - - Reactome - Q13467 - - - Ensembl - ENSG00000163251 - - - IUPHAR - 233 - - - ClinVar - FZD5 - - - - - 2q33.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 24412933[PMID] - - spalt like transcription factor 2 - SALL2 - - Hsal2 - KIAA0360 - ZNF795 - - - gene with protein product - - - - Ensembl - ENSG00000165821 - - - Genatlas - SALL2 - - - HGNC - 10526 - - - OMIM - 602219 - - - SwissProt - Q9Y467 - - - Reactome - Q9Y467 - - - ClinVar - SALL2 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22226084[PMID] - - ATP binding cassette subfamily B member 6 (LAN blood group) - ABCB6 - - umat - ATP-binding cassette half-transporter - EST45597 - MTABC3 - - - gene with protein product - - - - Ensembl - ENSG00000115657 - - - Genatlas - ABCB6 - - - HGNC - 47 - - - OMIM - 605452 - - - Reactome - Q9NP58 - - - SwissProt - Q9NP58 - - - IUPHAR - 773 - - - ClinVar - ABCB6 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12721955[PMID]_16604056[PMID] - - paired box 6 - PAX6 - - AN - D11S812E - WAGR - aniridia, keratitis - Aniridia 1 - Aniridia 2 - - - gene with protein product - - - - Ensembl - ENSG00000007372 - - - Genatlas - PAX6 - - - HGNC - 8620 - - - OMIM - 607108 - - - Reactome - P26367 - - - SwissProt - P26367 - - - ClinVar - PAX6 - - - - - 11p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98938 - Colobomatous microphthalmia - - Malformation syndrome - - - Disorder - - - - 12503095[PMID] - - sonic hedgehog signaling molecule - SHH - - HHG1 - MCOPCB5 - SMMCI - TPT - TPTPS - - - gene with protein product - - - - ClinVar - SHH - - - Ensembl - ENSG00000164690 - - - Genatlas - SHH - - - HGNC - 10848 - - - OMIM - 600725 - - - Reactome - Q15465 - - - SwissProt - Q15465 - - - - - 7q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21901792[PMID] - - signaling receptor and transporter of retinol STRA6 - STRA6 - - FLJ12541 - retinol binding protein 4 receptor - RBP receptor - SLC69A1 - - - gene with protein product - - - - Ensembl - ENSG00000137868 - - - Genatlas - STRA6 - - - HGNC - 30650 - - - OMIM - 610745 - - - Reactome - Q9BX79 - - - SwissProt - Q9BX79 - - - ClinVar - STRA6 - - - - - 15q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15257456[PMID] - - visual system homeobox 2 - VSX2 - - RET1 - - - gene with protein product - - - - ClinVar - VSX2 - - - Ensembl - ENSG00000119614 - - - Genatlas - VSX2 - - - HGNC - 1975 - - - OMIM - 142993 - - - SwissProt - P58304 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19864492[PMID] - - growth differentiation factor 6 - GDF6 - - BMP13 - KFS - KFS1 - - - gene with protein product - - - - ClinVar - GDF6 - - - Ensembl - ENSG00000156466 - - - Genatlas - GDF6 - - - HGNC - 4221 - - - OMIM - 601147 - - - SwissProt - Q6KF10 - - - - - 8q22.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 19864492[PMID] - - growth differentiation factor 3 - GDF3 - - - - gene with protein product - - - - ClinVar - GDF3 - - - OMIM - 606522 - - - SwissProt - Q9NR23 - - - Ensembl - ENSG00000184344 - - - Genatlas - GDF3 - - - HGNC - 4218 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22226084[PMID] - - ATP binding cassette subfamily B member 6 (LAN blood group) - ABCB6 - - umat - ATP-binding cassette half-transporter - EST45597 - MTABC3 - - - gene with protein product - - - - Ensembl - ENSG00000115657 - - - Genatlas - ABCB6 - - - HGNC - 47 - - - OMIM - 605452 - - - Reactome - Q9NP58 - - - SwissProt - Q9NP58 - - - IUPHAR - 773 - - - ClinVar - ABCB6 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22766609[PMID] - - teneurin transmembrane protein 3 - TENM3 - - KIAA1455 - Ten-M3 - TEN3 - - - gene with protein product - - - - OMIM - 610083 - - - SwissProt - Q9P273 - - - Ensembl - ENSG00000218336 - - - HGNC - 29944 - - - - - 4q34.3-q35.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25910211[PMID] - - retinol binding protein 4 - RBP4 - - - - gene with protein product - - - - IUPHAR - 2549 - - - ClinVar - RBP4 - - - Ensembl - ENSG00000138207 - - - Genatlas - RBP4 - - - HGNC - 9922 - - - OMIM - 180250 - - - Reactome - P02753 - - - SwissProt - P02753 - - - - - 10q23.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24033328[PMID] - - SRY-box transcription factor 2 - SOX2 - - - - gene with protein product - - - - ClinVar - SOX2 - - - Ensembl - ENSG00000181449 - - - Genatlas - SOX2 - - - HGNC - 11195 - - - OMIM - 184429 - - - Reactome - P48431 - - - SwissProt - P48431 - - - - - 3q26.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - SIX homeobox 6 - SIX6 - - Six9 - - - gene with protein product - - - - ClinVar - SIX6 - - - Ensembl - ENSG00000184302 - - - Genatlas - SIX6 - - - HGNC - 10892 - - - OMIM - 606326 - - - SwissProt - O95475 - - - - - 14q23.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 24033328[PMID] - - orthodenticle homeobox 2 - OTX2 - - - - gene with protein product - - - - SwissProt - P32243 - - - Ensembl - ENSG00000165588 - - - Genatlas - OTX2 - - - HGNC - 8522 - - - OMIM - 600037 - - - ClinVar - OTX2 - - - - - 14q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24033328[PMID] - - retina and anterior neural fold homeobox - RAX - - RX - retinal homeobox protein Rx - RAX1 - - - gene with protein product - - - - ClinVar - RAX - - - Ensembl - ENSG00000134438 - - - Genatlas - RAX - - - HGNC - 18662 - - - OMIM - 601881 - - - SwissProt - Q9Y2V3 - - - - - 18q21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23312594[PMID] - - aldehyde dehydrogenase 1 family member A3 - ALDH1A3 - - RALDH3 - Retinaldehyde dehydrogenase 3 - retinaldehyde dehydrogenase 3 - - - gene with protein product - - - - Ensembl - ENSG00000184254 - - - Genatlas - ALDH1A3 - - - HGNC - 409 - - - OMIM - 600463 - - - Reactome - P47895 - - - SwissProt - P47895 - - - ClinVar - ALDH1A3 - - - - - 15q26.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33111437[PMID] - - porcupine O-acyltransferase - PORCN - - MG61 - PORC - PPN - por - - - gene with protein product - - - - ClinVar - PORCN - - - IUPHAR - 3145 - - - Ensembl - ENSG00000102312 - - - Genatlas - PORCN - - - HGNC - 17652 - - - OMIM - 300651 - - - Reactome - Q9H237 - - - SwissProt - Q9H237 - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98949 - Complete cryptophthalmia - - Clinical subtype - - - Subtype of disorder - - - - 29688405[PMID] - - FRAS1 related extracellular matrix 2 - FREM2 - - DKFZp686J0811 - - - gene with protein product - - - - HGNC - 25396 - - - OMIM - 608945 - - - SwissProt - Q5SZK8 - - - ClinVar - FREM2 - - - Ensembl - ENSG00000150893 - - - Genatlas - FREM2 - - - - - 13q13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 98947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98947 - Coloboma of optic disc - - Morphological anomaly - - - Disorder - - - - 26908622[PMID] - - frizzled class receptor 5 - FZD5 - - DKFZP434E2135 - HFZ5 - - - gene with protein product - - - - HGNC - 4043 - - - OMIM - 601723 - - - Genatlas - FZD5 - - - SwissProt - Q13467 - - - Reactome - Q13467 - - - Ensembl - ENSG00000163251 - - - IUPHAR - 233 - - - ClinVar - FZD5 - - - - - 2q33.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 24412933[PMID] - - spalt like transcription factor 2 - SALL2 - - Hsal2 - KIAA0360 - ZNF795 - - - gene with protein product - - - - Ensembl - ENSG00000165821 - - - Genatlas - SALL2 - - - HGNC - 10526 - - - OMIM - 602219 - - - SwissProt - Q9Y467 - - - Reactome - Q9Y467 - - - ClinVar - SALL2 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22226084[PMID] - - ATP binding cassette subfamily B member 6 (LAN blood group) - ABCB6 - - umat - ATP-binding cassette half-transporter - EST45597 - MTABC3 - - - gene with protein product - - - - Ensembl - ENSG00000115657 - - - Genatlas - ABCB6 - - - HGNC - 47 - - - OMIM - 605452 - - - Reactome - Q9NP58 - - - SwissProt - Q9NP58 - - - IUPHAR - 773 - - - ClinVar - ABCB6 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12721955[PMID]_16604056[PMID] - - paired box 6 - PAX6 - - AN - D11S812E - WAGR - aniridia, keratitis - Aniridia 1 - Aniridia 2 - - - gene with protein product - - - - Ensembl - ENSG00000007372 - - - Genatlas - PAX6 - - - HGNC - 8620 - - - OMIM - 607108 - - - Reactome - P26367 - - - SwissProt - P26367 - - - ClinVar - PAX6 - - - - - 11p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98945 - Coloboma of macula - - Morphological anomaly - - - Disorder - - - - 26908622[PMID] - - frizzled class receptor 5 - FZD5 - - DKFZP434E2135 - HFZ5 - - - gene with protein product - - - - HGNC - 4043 - - - OMIM - 601723 - - - Genatlas - FZD5 - - - SwissProt - Q13467 - - - Reactome - Q13467 - - - Ensembl - ENSG00000163251 - - - IUPHAR - 233 - - - ClinVar - FZD5 - - - - - 2q33.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 24412933[PMID] - - spalt like transcription factor 2 - SALL2 - - Hsal2 - KIAA0360 - ZNF795 - - - gene with protein product - - - - Ensembl - ENSG00000165821 - - - Genatlas - SALL2 - - - HGNC - 10526 - - - OMIM - 602219 - - - SwissProt - Q9Y467 - - - Reactome - Q9Y467 - - - ClinVar - SALL2 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22226084[PMID] - - ATP binding cassette subfamily B member 6 (LAN blood group) - ABCB6 - - umat - ATP-binding cassette half-transporter - EST45597 - MTABC3 - - - gene with protein product - - - - Ensembl - ENSG00000115657 - - - Genatlas - ABCB6 - - - HGNC - 47 - - - OMIM - 605452 - - - Reactome - Q9NP58 - - - SwissProt - Q9NP58 - - - IUPHAR - 773 - - - ClinVar - ABCB6 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12721955[PMID]_16604056[PMID] - - paired box 6 - PAX6 - - AN - D11S812E - WAGR - aniridia, keratitis - Aniridia 1 - Aniridia 2 - - - gene with protein product - - - - Ensembl - ENSG00000007372 - - - Genatlas - PAX6 - - - HGNC - 8620 - - - OMIM - 607108 - - - Reactome - P26367 - - - SwissProt - P26367 - - - ClinVar - PAX6 - - - - - 11p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98946 - Coloboma of eyelid - - Morphological anomaly - - - Disorder - - - - 26908622[PMID] - - frizzled class receptor 5 - FZD5 - - DKFZP434E2135 - HFZ5 - - - gene with protein product - - - - HGNC - 4043 - - - OMIM - 601723 - - - Genatlas - FZD5 - - - SwissProt - Q13467 - - - Reactome - Q13467 - - - Ensembl - ENSG00000163251 - - - IUPHAR - 233 - - - ClinVar - FZD5 - - - - - 2q33.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 24412933[PMID] - - spalt like transcription factor 2 - SALL2 - - Hsal2 - KIAA0360 - ZNF795 - - - gene with protein product - - - - Ensembl - ENSG00000165821 - - - Genatlas - SALL2 - - - HGNC - 10526 - - - OMIM - 602219 - - - SwissProt - Q9Y467 - - - Reactome - Q9Y467 - - - ClinVar - SALL2 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22226084[PMID] - - ATP binding cassette subfamily B member 6 (LAN blood group) - ABCB6 - - umat - ATP-binding cassette half-transporter - EST45597 - MTABC3 - - - gene with protein product - - - - Ensembl - ENSG00000115657 - - - Genatlas - ABCB6 - - - HGNC - 47 - - - OMIM - 605452 - - - Reactome - Q9NP58 - - - SwissProt - Q9NP58 - - - IUPHAR - 773 - - - ClinVar - ABCB6 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12721955[PMID]_16604056[PMID] - - paired box 6 - PAX6 - - AN - D11S812E - WAGR - aniridia, keratitis - Aniridia 1 - Aniridia 2 - - - gene with protein product - - - - Ensembl - ENSG00000007372 - - - Genatlas - PAX6 - - - HGNC - 8620 - - - OMIM - 607108 - - - Reactome - P26367 - - - SwissProt - P26367 - - - ClinVar - PAX6 - - - - - 11p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98943 - Coloboma of eye lens - - Morphological anomaly - - - Disorder - - - - 26908622[PMID] - - frizzled class receptor 5 - FZD5 - - DKFZP434E2135 - HFZ5 - - - gene with protein product - - - - HGNC - 4043 - - - OMIM - 601723 - - - Genatlas - FZD5 - - - SwissProt - Q13467 - - - Reactome - Q13467 - - - Ensembl - ENSG00000163251 - - - IUPHAR - 233 - - - ClinVar - FZD5 - - - - - 2q33.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 24412933[PMID] - - spalt like transcription factor 2 - SALL2 - - Hsal2 - KIAA0360 - ZNF795 - - - gene with protein product - - - - Ensembl - ENSG00000165821 - - - Genatlas - SALL2 - - - HGNC - 10526 - - - OMIM - 602219 - - - SwissProt - Q9Y467 - - - Reactome - Q9Y467 - - - ClinVar - SALL2 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22226084[PMID] - - ATP binding cassette subfamily B member 6 (LAN blood group) - ABCB6 - - umat - ATP-binding cassette half-transporter - EST45597 - MTABC3 - - - gene with protein product - - - - Ensembl - ENSG00000115657 - - - Genatlas - ABCB6 - - - HGNC - 47 - - - OMIM - 605452 - - - Reactome - Q9NP58 - - - SwissProt - Q9NP58 - - - IUPHAR - 773 - - - ClinVar - ABCB6 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12721955[PMID]_16604056[PMID] - - paired box 6 - PAX6 - - AN - D11S812E - WAGR - aniridia, keratitis - Aniridia 1 - Aniridia 2 - - - gene with protein product - - - - Ensembl - ENSG00000007372 - - - Genatlas - PAX6 - - - HGNC - 8620 - - - OMIM - 607108 - - - Reactome - P26367 - - - SwissProt - P26367 - - - ClinVar - PAX6 - - - - - 11p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98944 - Coloboma of iris - - Morphological anomaly - - - Disorder - - - - 28493397[PMID] - - actin gamma 1 - ACTG1 - - - - gene with protein product - - - - ClinVar - ACTG1 - - - Ensembl - ENSG00000184009 - - - Genatlas - ACTG1 - - - HGNC - 144 - - - OMIM - 102560 - - - Reactome - P63261 - - - SwissProt - P63261 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26908622[PMID] - - frizzled class receptor 5 - FZD5 - - DKFZP434E2135 - HFZ5 - - - gene with protein product - - - - HGNC - 4043 - - - OMIM - 601723 - - - Genatlas - FZD5 - - - SwissProt - Q13467 - - - Reactome - Q13467 - - - Ensembl - ENSG00000163251 - - - IUPHAR - 233 - - - ClinVar - FZD5 - - - - - 2q33.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 24412933[PMID] - - spalt like transcription factor 2 - SALL2 - - Hsal2 - KIAA0360 - ZNF795 - - - gene with protein product - - - - Ensembl - ENSG00000165821 - - - Genatlas - SALL2 - - - HGNC - 10526 - - - OMIM - 602219 - - - SwissProt - Q9Y467 - - - Reactome - Q9Y467 - - - ClinVar - SALL2 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22226084[PMID] - - ATP binding cassette subfamily B member 6 (LAN blood group) - ABCB6 - - umat - ATP-binding cassette half-transporter - EST45597 - MTABC3 - - - gene with protein product - - - - Ensembl - ENSG00000115657 - - - Genatlas - ABCB6 - - - HGNC - 47 - - - OMIM - 605452 - - - Reactome - Q9NP58 - - - SwissProt - Q9NP58 - - - IUPHAR - 773 - - - ClinVar - ABCB6 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12721955[PMID]_16604056[PMID] - - paired box 6 - PAX6 - - AN - D11S812E - WAGR - aniridia, keratitis - Aniridia 1 - Aniridia 2 - - - gene with protein product - - - - Ensembl - ENSG00000007372 - - - Genatlas - PAX6 - - - HGNC - 8620 - - - OMIM - 607108 - - - Reactome - P26367 - - - SwissProt - P26367 - - - ClinVar - PAX6 - - - - - 11p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98957 - Gelatinous drop-like corneal dystrophy - - Disease - - - Disorder - - - - 20454699[PMID] - - tumor associated calcium signal transducer 2 - TACSTD2 - - EGP-1 - GA733-1 - TROP2 - epithelial glycoprotein-1 - trophoblast cell surface antigen 2 - - - gene with protein product - - - - Ensembl - ENSG00000184292 - - - Genatlas - TACSTD2 - - - HGNC - 11530 - - - OMIM - 137290 - - - SwissProt - P09758 - - - IUPHAR - 2837 - - - ClinVar - TACSTD2 - - - - - 1p32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98956 - Epithelial basement membrane dystrophy - - Disease - - - Disorder - - - - 16652336[PMID] - - transforming growth factor beta induced - TGFBI - - BIGH3 - CDB1 - CDGG1 - - - gene with protein product - - - - ClinVar - TGFBI - - - Ensembl - ENSG00000120708 - - - Genatlas - TGFBI - - - HGNC - 11771 - - - OMIM - 601692 - - - Reactome - Q15582 - - - SwissProt - Q15582 - - - - - 5q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98954 - Meesmann corneal dystrophy - - Disease - - - Disorder - - - - 9171831[PMID] - - keratin 12 - KRT12 - - K12 - Meesmann corneal dystrophy - - - gene with protein product - - - - ClinVar - KRT12 - - - Ensembl - ENSG00000187242 - - - Genatlas - KRT12 - - - HGNC - 6414 - - - OMIM - 601687 - - - SwissProt - Q99456 - - - Reactome - Q99456 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 9171831[PMID] - - keratin 3 - KRT3 - - CK3 - K3 - cytokeratin 3 - keratin, type II cytoskeletal 3 - - - gene with protein product - - - - ClinVar - KRT3 - - - Ensembl - ENSG00000186442 - - - Genatlas - KRT3 - - - HGNC - 6440 - - - OMIM - 148043 - - - SwissProt - P12035 - - - Reactome - P12035 - - - - - 12q13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98964 - Lattice corneal dystrophy type I - - Disease - - - Disorder - - - - 12770961[PMID] - - transforming growth factor beta induced - TGFBI - - BIGH3 - CDB1 - CDGG1 - - - gene with protein product - - - - ClinVar - TGFBI - - - Ensembl - ENSG00000120708 - - - Genatlas - TGFBI - - - HGNC - 11771 - - - OMIM - 601692 - - - Reactome - Q15582 - - - SwissProt - Q15582 - - - - - 5q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98963 - Granular corneal dystrophy type II - - Disease - - - Disorder - - - - 22815629[PMID] - - transforming growth factor beta induced - TGFBI - - BIGH3 - CDB1 - CDGG1 - - - gene with protein product - - - - ClinVar - TGFBI - - - Ensembl - ENSG00000120708 - - - Genatlas - TGFBI - - - HGNC - 11771 - - - OMIM - 601692 - - - Reactome - Q15582 - - - SwissProt - Q15582 - - - - - 5q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98962 - Granular corneal dystrophy type I - - Disease - - - Disorder - - - - 21264234[PMID] - - transforming growth factor beta induced - TGFBI - - BIGH3 - CDB1 - CDGG1 - - - gene with protein product - - - - ClinVar - TGFBI - - - Ensembl - ENSG00000120708 - - - Genatlas - TGFBI - - - HGNC - 11771 - - - OMIM - 601692 - - - Reactome - Q15582 - - - SwissProt - Q15582 - - - - - 5q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98961 - Reis-Bücklers corneal dystrophy - - Disease - - - Disorder - - - - 20360992[PMID] - - transforming growth factor beta induced - TGFBI - - BIGH3 - CDB1 - CDGG1 - - - gene with protein product - - - - ClinVar - TGFBI - - - Ensembl - ENSG00000120708 - - - Genatlas - TGFBI - - - HGNC - 11771 - - - OMIM - 601692 - - - Reactome - Q15582 - - - SwissProt - Q15582 - - - - - 5q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98960 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98960 - Thiel-Behnke corneal dystrophy - - Disease - - - Disorder - - - - 26464103[PMID] - - transforming growth factor beta induced - TGFBI - - BIGH3 - CDB1 - CDGG1 - - - gene with protein product - - - - ClinVar - TGFBI - - - Ensembl - ENSG00000120708 - - - Genatlas - TGFBI - - - HGNC - 11771 - - - OMIM - 601692 - - - Reactome - Q15582 - - - SwissProt - Q15582 - - - - - 5q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98973 - Posterior polymorphous corneal dystrophy - - Disease - - - Disorder - - - - 11978762[PMID] - - visual system homeobox 1 - VSX1 - - PPCD1 - PPD - - - gene with protein product - - - - ClinVar - VSX1 - - - HGNC - 12723 - - - OMIM - 605020 - - - SwissProt - Q9NZR4 - - - Ensembl - ENSG00000100987 - - - Genatlas - VSX1 - - - - - 20p11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23807282[PMID]_25441224[PMID] - - zinc finger E-box binding homeobox 1 - ZEB1 - - AREB6 - BZP - FECD6 - NIL-2-A - ZEB - Zfhep - Zfhx1a - - - gene with protein product - - - - ClinVar - ZEB1 - - - Ensembl - ENSG00000148516 - - - Genatlas - ZEB1 - - - HGNC - 11642 - - - OMIM - 189909 - - - SwissProt - P37275 - - - Reactome - P37275 - - - - - 10p11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11689488[PMID] - - collagen type VIII alpha 2 chain - COL8A2 - - FECD1 - PPCD - PPCD2 - - - gene with protein product - - - - ClinVar - COL8A2 - - - Genatlas - COL8A2 - - - HGNC - 2216 - - - OMIM - 120252 - - - Reactome - P25067 - - - SwissProt - P25067 - - - Ensembl - ENSG00000171812 - - - - - 1p34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26749309[PMID] - - ovo like zinc finger 2 - OVOL2 - - HOVO2 - bA504H3.3 - CHED - - - gene with protein product - - - - Ensembl - ENSG00000125850 - - - Genatlas - OVOL2 - - - HGNC - 15804 - - - OMIM - 616441 - - - SwissProt - Q9BRP0 - - - ClinVar - OVOL2 - - - - - 20p11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29499165[PMID] - - grainyhead like transcription factor 2 - GRHL2 - - BOM - FLJ13782 - brother-of-MGR - - - gene with protein product - - - - Reactome - Q6ISB3 - - - ClinVar - GRHL2 - - - HGNC - 2799 - - - OMIM - 608576 - - - SwissProt - Q6ISB3 - - - Ensembl - ENSG00000083307 - - - Genatlas - GRHL2 - - - - - 8q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98974 - Fuchs endothelial corneal dystrophy - - Disease - - - Disorder - - - - 20848555[PMID] - - solute carrier family 4 member 11 - SLC4A11 - - NaBC1 - dJ794I6.2 - BTR1 - FECD4 - sodium-coupled borate cotransporter 1 - bicarbonate transporter related protein 1 - - - gene with protein product - - - - Ensembl - ENSG00000088836 - - - Genatlas - SLC4A11 - - - HGNC - 16438 - - - OMIM - 610206 - - - SwissProt - Q8NBS3 - - - IUPHAR - 913 - - - ClinVar - SLC4A11 - - - - - 20p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20036349[PMID] - - zinc finger E-box binding homeobox 1 - ZEB1 - - AREB6 - BZP - FECD6 - NIL-2-A - ZEB - Zfhep - Zfhx1a - - - gene with protein product - - - - ClinVar - ZEB1 - - - Ensembl - ENSG00000148516 - - - Genatlas - ZEB1 - - - HGNC - 11642 - - - OMIM - 189909 - - - SwissProt - P37275 - - - Reactome - P37275 - - - - - 10p11.22 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 18464802[PMID] - - collagen type VIII alpha 2 chain - COL8A2 - - FECD1 - PPCD - PPCD2 - - - gene with protein product - - - - ClinVar - COL8A2 - - - Genatlas - COL8A2 - - - HGNC - 2216 - - - OMIM - 120252 - - - Reactome - P25067 - - - SwissProt - P25067 - - - Ensembl - ENSG00000171812 - - - - - 1p34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23185296[PMID] - - transcription factor 4 - TCF4 - - E2-2 - ITF2 - SEF2-1B - bHLHb19 - class B basic helix-loop-helix protein 19 - immunoglobulin transcription factor 2 - SL3-3 enhancer factor 2 - - - gene with protein product - - - - ClinVar - TCF4 - - - Ensembl - ENSG00000196628 - - - Genatlas - TCF4 - - - HGNC - 11634 - - - OMIM - 602272 - - - Reactome - P15884 - - - SwissProt - P15884 - - - - - 18q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24094747[PMID] - - AGBL carboxypeptidase 1 - AGBL1 - - CCP4 - FLJ32310 - cytosolic carboxypeptidase 4 - - - gene with protein product - - - - Reactome - Q96MI9 - - - Genatlas - AGBL1 - - - HGNC - 26504 - - - Ensembl - ENSG00000273540 - - - OMIM - 615496 - - - SwissProt - Q96MI9 - - - ClinVar - AGBL1 - - - - - 15q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98967 - Schnyder corneal dystrophy - - Disease - - - Disorder - - - - 23169578[PMID]_22065921[PMID] - - UbiA prenyltransferase domain containing 1 - UBIAD1 - - TERE1 - transitional epithelia response protein - - - gene with protein product - - - - ClinVar - UBIAD1 - - - Ensembl - ENSG00000120942 - - - Genatlas - UBIAD1 - - - HGNC - 30791 - - - OMIM - 611632 - - - Reactome - Q9Y5Z9 - - - SwissProt - Q9Y5Z9 - - - - - 1p36.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98969 - Macular corneal dystrophy - - Disease - - - Disorder - - - - 11017086[PMID]_19365571[PMID] - - carbohydrate sulfotransferase 6 - CHST6 - - - - gene with protein product - - - - Ensembl - ENSG00000183196 - - - Genatlas - CHST6 - - - HGNC - 6938 - - - OMIM - 605294 - - - Reactome - Q9GZX3 - - - SwissProt - Q9GZX3 - - - ClinVar - CHST6 - - - - - 16q23.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 98970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98970 - Fleck corneal dystrophy - - Disease - - - Disorder - - - - 22065932[PMID]_26396486[PMID] - - phosphoinositide kinase, FYVE-type zinc finger containing - PIKFYVE - - FAB1 - KIAA0981 - MGC40423 - PIKfyve - PIP5K - ZFYVE29 - p235 - zinc finger, FYVE domain containing 29 - - - gene with protein product - - - - IUPHAR - 2857 - - - Ensembl - ENSG00000115020 - - - Genatlas - PIKFYVE - - - HGNC - 23785 - - - OMIM - 609414 - - - Reactome - Q9Y2I7 - - - SwissProt - Q9Y2I7 - - - ClinVar - PIKFYVE - - - - - 2q34 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 98976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98976 - Congenital glaucoma - - Disease - - - Disorder - - - - 21730848[PMID] - - cytochrome P450 family 1 subfamily B member 1 - CYP1B1 - - CP1B - - - gene with protein product - - - - ClinVar - CYP1B1 - - - IUPHAR - 1320 - - - Ensembl - ENSG00000138061 - - - Genatlas - CYP1B1 - - - HGNC - 2597 - - - OMIM - 601771 - - - Reactome - Q16678 - - - SwissProt - Q16678 - - - - - 2p22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21730848[PMID]_15733270[PMID]_21168818[PMID] - - myocilin - MYOC - - JOAG1 - TIGR - juvenile-onset open-angle glaucoma 1 - trabecular meshwork inducible glucocorticoid response protein - - - gene with protein product - - - - ClinVar - MYOC - - - Ensembl - ENSG00000034971 - - - Genatlas - MYOC - - - HGNC - 7610 - - - OMIM - 601652 - - - SwissProt - Q99972 - - - - - 1q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19361779[PMID] - - latent transforming growth factor beta binding protein 2 - LTBP2 - - - - gene with protein product - - - - ClinVar - LTBP2 - - - Ensembl - ENSG00000119681 - - - Genatlas - LTBP2 - - - HGNC - 6715 - - - OMIM - 602091 - - - Reactome - Q14767 - - - SwissProt - Q14767 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27270174[PMID] - - TEK receptor tyrosine kinase - TEK - - CD202b - TIE-2 - TIE2 - VMCM1 - angiopoietin-1 receptor - - - gene with protein product - - - - Ensembl - ENSG00000120156 - - - Genatlas - TEK - - - HGNC - 11724 - - - IUPHAR - 1842 - - - OMIM - 600221 - - - Reactome - Q02763 - - - SwissProt - Q02763 - - - ClinVar - TEK - - - - - 9p21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 98977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98977 - Juvenile glaucoma - - Disease - - - Disorder - - - - 19643970[PMID]_22878448[PMID] - - cytochrome P450 family 1 subfamily B member 1 - CYP1B1 - - CP1B - - - gene with protein product - - - - ClinVar - CYP1B1 - - - IUPHAR - 1320 - - - Ensembl - ENSG00000138061 - - - Genatlas - CYP1B1 - - - HGNC - 2597 - - - OMIM - 601771 - - - Reactome - Q16678 - - - SwissProt - Q16678 - - - - - 2p22.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 21730848[PMID] - - myocilin - MYOC - - JOAG1 - TIGR - juvenile-onset open-angle glaucoma 1 - trabecular meshwork inducible glucocorticoid response protein - - - gene with protein product - - - - ClinVar - MYOC - - - Ensembl - ENSG00000034971 - - - Genatlas - MYOC - - - HGNC - 7610 - - - OMIM - 601652 - - - SwissProt - Q99972 - - - - - 1q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34923728[PMID] - - EGF containing fibulin extracellular matrix protein 1 - EFEMP1 - - FBLN3 - MTLV - S1-5 - fibulin 3 - - - gene with protein product - - - - Ensembl - ENSG00000115380 - - - Genatlas - EFEMP1 - - - HGNC - 3218 - - - OMIM - 601548 - - - Reactome - Q12805 - - - SwissProt - Q12805 - - - ClinVar - EFEMP1 - - - - - 2p16.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98978 - Axenfeld anomaly - - Morphological anomaly - - - Disorder - - - - 19513095[PMID]_24433355[PMID] - - paired like homeodomain 2 - PITX2 - - ARP1 - Brx1 - IGDS - Otlx2 - RS - - - gene with protein product - - - - Ensembl - ENSG00000164093 - - - Genatlas - PITX2 - - - HGNC - 9005 - - - OMIM - 601542 - - - SwissProt - Q99697 - - - ClinVar - PITX2 - - - Reactome - Q99697 - - - - - 4q25 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 9620769[PMID]_11170889[PMID] - - forkhead box C1 - FOXC1 - - ARA - FREAC3 - IGDA - IHG1 - - - gene with protein product - - - - OMIM - 601090 - - - SwissProt - Q12948 - - - Ensembl - ENSG00000054598 - - - Genatlas - FOXC1 - - - HGNC - 3800 - - - ClinVar - FOXC1 - - - Reactome - Q12948 - - - - - 6p25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98988 - Early-onset anterior polar cataract - - Clinical subtype - - - Subtype of disorder - - - - 22065922[PMID] - - crystallin alpha A - CRYAA - - HSPB4 - - - gene with protein product - - - - ClinVar - CRYAA - - - Ensembl - ENSG00000160202 - - - Genatlas - CRYAA - - - HGNC - 2388 - - - OMIM - 123580 - - - SwissProt - P02489 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23508780[PMID] - - crystallin beta B3 - CRYBB3 - - - - gene with protein product - - - - ClinVar - CRYBB3 - - - OMIM - 123630 - - - SwissProt - P26998 - - - Ensembl - ENSG00000100053 - - - Genatlas - CRYBB3 - - - HGNC - 2400 - - - - - 22q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23288985[PMID] - - crystallin gamma B - CRYGB - - - - gene with protein product - - - - ClinVar - CRYGB - - - Ensembl - ENSG00000182187 - - - Genatlas - CRYGB - - - HGNC - 2409 - - - OMIM - 123670 - - - SwissProt - P07316 - - - - - 2q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23508780[PMID] - - crystallin beta A2 - CRYBA2 - - - - gene with protein product - - - - Reactome - P53672 - - - Ensembl - ENSG00000163499 - - - Genatlas - CRYBA2 - - - HGNC - 2395 - - - OMIM - 600836 - - - SwissProt - P53672 - - - ClinVar - CRYBA2 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98990 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98990 - Coralliform cataract - - Clinical subtype - - - Subtype of disorder - - - - 21552497[PMID]_18334953[PMID] - - crystallin gamma D - CRYGD - - - - gene with protein product - - - - ClinVar - CRYGD - - - Ensembl - ENSG00000118231 - - - Genatlas - CRYGD - - - HGNC - 2411 - - - OMIM - 123690 - - - SwissProt - P07320 - - - - - 2q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98989 - Cerulean cataract - - Clinical subtype - - - Subtype of disorder - - - - 9158139[PMID]_19321936[PMID] - - crystallin beta B2 - CRYBB2 - - - - gene with protein product - - - - ClinVar - CRYBB2 - - - Ensembl - ENSG00000244752 - - - Genatlas - CRYBB2 - - - HGNC - 2398 - - - OMIM - 123620 - - - SwissProt - P43320 - - - - - 22q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12676897[PMID] - - crystallin gamma D - CRYGD - - - - gene with protein product - - - - ClinVar - CRYGD - - - Ensembl - ENSG00000118231 - - - Genatlas - CRYGD - - - HGNC - 2411 - - - OMIM - 123690 - - - SwissProt - P07320 - - - - - 2q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21850180[PMID] - - major intrinsic protein of lens fiber - MIP - - AQP0 - LIM1 - MP26 - aquaporin 0 - - - gene with protein product - - - - Ensembl - ENSG00000135517 - - - Genatlas - MIP - - - HGNC - 7103 - - - OMIM - 154050 - - - Reactome - P30301 - - - SwissProt - P30301 - - - IUPHAR - 687 - - - ClinVar - MIP - - - - - 12q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16470690[PMID] - - MAF bZIP transcription factor - MAF - - c-MAF - - - gene with protein product - - - - ClinVar - MAF - - - Ensembl - ENSG00000178573 - - - Genatlas - MAF - - - HGNC - 6776 - - - OMIM - 177075 - - - SwissProt - O75444 - - - - - 16q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98984 - Pulverulent cataract - - Clinical subtype - - - Subtype of disorder - - - - 24654948[PMID] - - beaded filament structural protein 2 - BFSP2 - - CP47 - CP49 - LIFL-L - phakinin - - - gene with protein product - - - - ClinVar - BFSP2 - - - Reactome - Q13515 - - - Ensembl - ENSG00000170819 - - - Genatlas - BFSP2 - - - HGNC - 1041 - - - OMIM - 603212 - - - SwissProt - Q13515 - - - - - 3q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 10634616[PMID] - - crystallin beta B2 - CRYBB2 - - - - gene with protein product - - - - ClinVar - CRYBB2 - - - Ensembl - ENSG00000244752 - - - Genatlas - CRYBB2 - - - HGNC - 2398 - - - OMIM - 123620 - - - SwissProt - P43320 - - - - - 22q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 10914683[PMID]_23954869[PMID] - - crystallin gamma C - CRYGC - - - - gene with protein product - - - - ClinVar - CRYGC - - - Ensembl - ENSG00000163254 - - - Genatlas - CRYGC - - - HGNC - 2410 - - - OMIM - 123680 - - - SwissProt - P07315 - - - - - 2q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21866214[PMID] - - crystallin gamma D - CRYGD - - - - gene with protein product - - - - ClinVar - CRYGD - - - Ensembl - ENSG00000118231 - - - Genatlas - CRYGD - - - HGNC - 2411 - - - OMIM - 123690 - - - SwissProt - P07320 - - - - - 2q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22876138[PMID] - - gap junction protein alpha 3 - GJA3 - - CX46 - connexin 46 - - - gene with protein product - - - - ClinVar - GJA3 - - - Ensembl - ENSG00000121743 - - - Genatlas - GJA3 - - - HGNC - 4277 - - - OMIM - 121015 - - - Reactome - Q9Y6H8 - - - SwissProt - Q9Y6H8 - - - IUPHAR - 730 - - - - - 13q12.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18006672[PMID] - - gap junction protein alpha 8 - GJA8 - - CX50 - connexin 50 - - - gene with protein product - - - - ClinVar - GJA8 - - - Ensembl - ENSG00000121634 - - - Genatlas - GJA8 - - - HGNC - 4281 - - - OMIM - 600897 - - - Reactome - P48165 - - - SwissProt - P48165 - - - IUPHAR - 732 - - - - - 1q21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22267527[PMID]_19461930[PMID]_12360425[PMID] - - crystallin beta B1 - CRYBB1 - - - - gene with protein product - - - - Reactome - P53674 - - - Ensembl - ENSG00000100122 - - - Genatlas - CRYBB1 - - - HGNC - 2397 - - - OMIM - 600929 - - - SwissProt - P53674 - - - ClinVar - CRYBB1 - - - - - 22q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11772997[PMID]_12642301[PMID] - - MAF bZIP transcription factor - MAF - - c-MAF - - - gene with protein product - - - - ClinVar - MAF - - - Ensembl - ENSG00000178573 - - - Genatlas - MAF - - - HGNC - 6776 - - - OMIM - 177075 - - - SwissProt - O75444 - - - - - 16q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19126778[PMID] - - vimentin - VIM - - - - gene with protein product - - - - Ensembl - ENSG00000026025 - - - Genatlas - VIM - - - HGNC - 12692 - - - OMIM - 193060 - - - Reactome - P08670 - - - SwissProt - P08670 - - - ClinVar - VIM - - - - - 10p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98985 - Early-onset sutural cataract - - Clinical subtype - - - Subtype of disorder - - - - 17200662[PMID] - - beaded filament structural protein 2 - BFSP2 - - CP47 - CP49 - LIFL-L - phakinin - - - gene with protein product - - - - ClinVar - BFSP2 - - - Reactome - Q13515 - - - Ensembl - ENSG00000170819 - - - Genatlas - BFSP2 - - - HGNC - 1041 - - - OMIM - 603212 - - - SwissProt - Q13515 - - - - - 3q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 9788845[PMID] - - crystallin beta A1 - CRYBA1 - - eye lens structural protein - - - gene with protein product - - - - ClinVar - CRYBA1 - - - Reactome - P05813 - - - Ensembl - ENSG00000108255 - - - Genatlas - CRYBA1 - - - HGNC - 2394 - - - OMIM - 123610 - - - SwissProt - P05813 - - - - - 17q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11424921[PMID] - - crystallin beta B2 - CRYBB2 - - - - gene with protein product - - - - ClinVar - CRYBB2 - - - Ensembl - ENSG00000244752 - - - Genatlas - CRYBB2 - - - HGNC - 2398 - - - OMIM - 123620 - - - SwissProt - P43320 - - - - - 22q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18587493[PMID] - - gap junction protein alpha 8 - GJA8 - - CX50 - connexin 50 - - - gene with protein product - - - - ClinVar - GJA8 - - - Ensembl - ENSG00000121634 - - - Genatlas - GJA8 - - - HGNC - 4281 - - - OMIM - 600897 - - - Reactome - P48165 - - - SwissProt - P48165 - - - IUPHAR - 732 - - - - - 1q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20361015[PMID]_24405844[PMID] - - major intrinsic protein of lens fiber - MIP - - AQP0 - LIM1 - MP26 - aquaporin 0 - - - gene with protein product - - - - Ensembl - ENSG00000135517 - - - Genatlas - MIP - - - HGNC - 7103 - - - OMIM - 154050 - - - Reactome - P30301 - - - SwissProt - P30301 - - - IUPHAR - 687 - - - ClinVar - MIP - - - - - 12q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18587492[PMID]_16141006[PMID] - - crystallin gamma S - CRYGS - - crystallin, gamma 8 - - - gene with protein product - - - - ClinVar - CRYGS - - - Ensembl - ENSG00000213139 - - - Genatlas - CRYGS - - - HGNC - 2417 - - - OMIM - 123730 - - - SwissProt - P22914 - - - - - 3q27.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98991 - Early-onset nuclear cataract - - Clinical subtype - - - Subtype of disorder - - - - 23531866[PMID] - - wolframin ER transmembrane glycoprotein - WFS1 - - DIDMOAD - WFS - - - gene with protein product - - - - ClinVar - WFS1 - - - Ensembl - ENSG00000109501 - - - Genatlas - WFS1 - - - HGNC - 12762 - - - OMIM - 606201 - - - Reactome - O76024 - - - SwissProt - O76024 - - - - - 4p16.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19390652[PMID]_24074001[PMID]_24384146[PMID] - - crystallin alpha A - CRYAA - - HSPB4 - - - gene with protein product - - - - ClinVar - CRYAA - - - Ensembl - ENSG00000160202 - - - Genatlas - CRYAA - - - HGNC - 2388 - - - OMIM - 123580 - - - SwissProt - P02489 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19597569[PMID]_24384146[PMID]_26622071[PMID] - - crystallin alpha B - CRYAB - - HSPB5 - - - gene with protein product - - - - ClinVar - CRYAB - - - Reactome - P02511 - - - SwissProt - P02511 - - - Ensembl - ENSG00000109846 - - - Genatlas - CRYAB - - - HGNC - 2389 - - - OMIM - 123590 - - - - - 11q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21686330[PMID]_24384146[PMID] - - crystallin beta A1 - CRYBA1 - - eye lens structural protein - - - gene with protein product - - - - ClinVar - CRYBA1 - - - Reactome - P05813 - - - Ensembl - ENSG00000108255 - - - Genatlas - CRYBA1 - - - HGNC - 2394 - - - OMIM - 123610 - - - SwissProt - P05813 - - - - - 17q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19649175[PMID]_24384146[PMID] - - crystallin beta B2 - CRYBB2 - - - - gene with protein product - - - - ClinVar - CRYBB2 - - - Ensembl - ENSG00000244752 - - - Genatlas - CRYBB2 - - - HGNC - 2398 - - - OMIM - 123620 - - - SwissProt - P43320 - - - - - 22q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23508780[PMID]_15914629[PMID] - - crystallin beta B3 - CRYBB3 - - - - gene with protein product - - - - ClinVar - CRYBB3 - - - OMIM - 123630 - - - SwissProt - P26998 - - - Ensembl - ENSG00000100053 - - - Genatlas - CRYBB3 - - - HGNC - 2400 - - - - - 22q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18618005[PMID]_24384146[PMID] - - crystallin gamma C - CRYGC - - - - gene with protein product - - - - ClinVar - CRYGC - - - Ensembl - ENSG00000163254 - - - Genatlas - CRYGC - - - HGNC - 2410 - - - OMIM - 123680 - - - SwissProt - P07315 - - - - - 2q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21031598[PMID]_26147294[PMID]_24384146[PMID] - - crystallin gamma D - CRYGD - - - - gene with protein product - - - - ClinVar - CRYGD - - - Ensembl - ENSG00000118231 - - - Genatlas - CRYGD - - - HGNC - 2411 - - - OMIM - 123690 - - - SwissProt - P07320 - - - - - 2q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16234473[PMID]_20431721[PMID]_21552498[PMID] - - gap junction protein alpha 3 - GJA3 - - CX46 - connexin 46 - - - gene with protein product - - - - ClinVar - GJA3 - - - Ensembl - ENSG00000121743 - - - Genatlas - GJA3 - - - HGNC - 4277 - - - OMIM - 121015 - - - Reactome - Q9Y6H8 - - - SwissProt - Q9Y6H8 - - - IUPHAR - 730 - - - - - 13q12.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 14627691[PMID]_24384146[PMID] - - gap junction protein alpha 8 - GJA8 - - CX50 - connexin 50 - - - gene with protein product - - - - ClinVar - GJA8 - - - Ensembl - ENSG00000121634 - - - Genatlas - GJA8 - - - HGNC - 4281 - - - OMIM - 600897 - - - Reactome - P48165 - - - SwissProt - P48165 - - - IUPHAR - 732 - - - - - 1q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21245956[PMID]_21647270[PMID]_24384146[PMID] - - major intrinsic protein of lens fiber - MIP - - AQP0 - LIM1 - MP26 - aquaporin 0 - - - gene with protein product - - - - Ensembl - ENSG00000135517 - - - Genatlas - MIP - - - HGNC - 7103 - - - OMIM - 154050 - - - Reactome - P30301 - - - SwissProt - P30301 - - - IUPHAR - 687 - - - ClinVar - MIP - - - - - 12q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18432316[PMID]_17460281[PMID]_24384146[PMID] - - crystallin beta B1 - CRYBB1 - - - - gene with protein product - - - - Reactome - P53674 - - - Ensembl - ENSG00000100122 - - - Genatlas - CRYBB1 - - - HGNC - 2397 - - - OMIM - 600929 - - - SwissProt - P53674 - - - ClinVar - CRYBB1 - - - - - 22q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19414485[PMID]_24968223[PMID]_24384146[PMID] - - NHS actin remodeling regulator - NHS - - - - gene with protein product - - - - Ensembl - ENSG00000188158 - - - Genatlas - NHS - - - HGNC - 7820 - - - OMIM - 300457 - - - SwissProt - Q6T4R5 - - - ClinVar - NHS - - - - - Xp22.2-p22.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24379646[PMID] - - beaded filament structural protein 1 - BFSP1 - - CP115 - CP94 - Filensin - LIFL-H - filensin - - - gene with protein product - - - - ClinVar - BFSP1 - - - Ensembl - ENSG00000125864 - - - Genatlas - BFSP1 - - - HGNC - 1040 - - - OMIM - 603307 - - - SwissProt - Q12934 - - - - - 20p12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24014202[PMID] - - EPH receptor A2 - EPHA2 - - - - gene with protein product - - - - ClinVar - EPHA2 - - - Ensembl - ENSG00000142627 - - - Genatlas - EPHA2 - - - HGNC - 3386 - - - IUPHAR - 1822 - - - OMIM - 176946 - - - Reactome - P29317 - - - SwissProt - P29317 - - - - - 1p36.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21636066[PMID]_24384146[PMID] - - FYVE and coiled-coil domain autophagy adaptor 1 - FYCO1 - - ZFYVE7 - FLJ13335 - - - gene with protein product - - - - ClinVar - FYCO1 - - - Reactome - Q9BQS8 - - - Ensembl - ENSG00000163820 - - - Genatlas - FYCO1 - - - HGNC - 14673 - - - OMIM - 607182 - - - SwissProt - Q9BQS8 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24549050[PMID] - - unc-45 myosin chaperone B - UNC45B - - UNC45 - - - gene with protein product - - - - ClinVar - UNC45B - - - Reactome - Q8IWX7 - - - Ensembl - ENSG00000141161 - - - Genatlas - UNC45B - - - HGNC - 14304 - - - OMIM - 611220 - - - SwissProt - Q8IWX7 - - - - - 17q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23508780[PMID] - - crystallin beta A2 - CRYBA2 - - - - gene with protein product - - - - Reactome - P53672 - - - Ensembl - ENSG00000163499 - - - Genatlas - CRYBA2 - - - HGNC - 2395 - - - OMIM - 600836 - - - SwissProt - P53672 - - - ClinVar - CRYBA2 - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98994 - Total early-onset cataract - - Clinical subtype - - - Subtype of disorder - - - - 16862070[PMID] - - crystallin alpha A - CRYAA - - HSPB4 - - - gene with protein product - - - - ClinVar - CRYAA - - - Ensembl - ENSG00000160202 - - - Genatlas - CRYAA - - - HGNC - 2388 - - - OMIM - 123580 - - - SwissProt - P02489 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21031021[PMID] - - crystallin beta B2 - CRYBB2 - - - - gene with protein product - - - - ClinVar - CRYBB2 - - - Ensembl - ENSG00000244752 - - - Genatlas - CRYBB2 - - - HGNC - 2398 - - - OMIM - 123620 - - - SwissProt - P43320 - - - - - 22q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17601931[PMID] - - gap junction protein alpha 8 - GJA8 - - CX50 - connexin 50 - - - gene with protein product - - - - ClinVar - GJA8 - - - Ensembl - ENSG00000121634 - - - Genatlas - GJA8 - - - HGNC - 4281 - - - OMIM - 600897 - - - Reactome - P48165 - - - SwissProt - P48165 - - - IUPHAR - 732 - - - - - 1q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15277496[PMID]_16876512[PMID] - - heat shock transcription factor 4 - HSF4 - - - - gene with protein product - - - - ClinVar - HSF4 - - - Ensembl - ENSG00000102878 - - - Genatlas - HSF4 - - - HGNC - 5227 - - - OMIM - 602438 - - - SwissProt - Q9ULV5 - - - - - 16q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17893667[PMID] - - major intrinsic protein of lens fiber - MIP - - AQP0 - LIM1 - MP26 - aquaporin 0 - - - gene with protein product - - - - Ensembl - ENSG00000135517 - - - Genatlas - MIP - - - HGNC - 7103 - - - OMIM - 154050 - - - Reactome - P30301 - - - SwissProt - P30301 - - - IUPHAR - 687 - - - ClinVar - MIP - - - - - 12q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - NHS actin remodeling regulator - NHS - - - - gene with protein product - - - - Ensembl - ENSG00000188158 - - - Genatlas - NHS - - - HGNC - 7820 - - - OMIM - 300457 - - - SwissProt - Q6T4R5 - - - ClinVar - NHS - - - - - Xp22.2-p22.13 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 18596884[PMID] - - lens intrinsic membrane protein 2 - LIM2 - - MP17 - MP19 - - - gene with protein product - - - - ClinVar - LIM2 - - - OMIM - 154045 - - - SwissProt - P55344 - - - Ensembl - ENSG00000105370 - - - Genatlas - LIM2 - - - HGNC - 6610 - - - - - 19q13.41 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19306328[PMID] - - EPH receptor A2 - EPHA2 - - - - gene with protein product - - - - ClinVar - EPHA2 - - - Ensembl - ENSG00000142627 - - - Genatlas - EPHA2 - - - HGNC - 3386 - - - IUPHAR - 1822 - - - OMIM - 176946 - - - Reactome - P29317 - - - SwissProt - P29317 - - - - - 1p36.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26622071[PMID] - - FYVE and coiled-coil domain autophagy adaptor 1 - FYCO1 - - ZFYVE7 - FLJ13335 - - - gene with protein product - - - - ClinVar - FYCO1 - - - Reactome - Q9BQS8 - - - Ensembl - ENSG00000163820 - - - Genatlas - FYCO1 - - - HGNC - 14673 - - - OMIM - 607182 - - - SwissProt - Q9BQS8 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22415731[PMID]_26622071[PMID] - - acylglycerol kinase - AGK - - FLJ10842 - - - gene with protein product - - - - Ensembl - ENSG00000006530 - - - Genatlas - AGK - - - HGNC - 21869 - - - OMIM - 610345 - - - Reactome - Q53H12 - - - SwissProt - Q53H12 - - - ClinVar - AGK - - - - - 7q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23288985[PMID] - - crystallin gamma B - CRYGB - - - - gene with protein product - - - - ClinVar - CRYGB - - - Ensembl - ENSG00000182187 - - - Genatlas - CRYGB - - - HGNC - 2409 - - - OMIM - 123670 - - - SwissProt - P07316 - - - - - 2q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21761136[PMID]_26622071[PMID] - - glucosaminyl (N-acetyl) transferase 2 (I blood group) - GCNT2 - - IGNT - Ii blood group - NAGCT1 - ULG3 - bA360O19.2 - bA421M1.1 - unassigned linkage group 3 - - - gene with protein product - - - - Ensembl - ENSG00000111846 - - - Genatlas - GCNT2 - - - HGNC - 4204 - - - OMIM - 600429 - - - SwissProt - Q8N0V5 - - - ClinVar - GCNT2 - - - - - 6p24.3-p24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 262003412[PMID] - - lanosterol synthase - LSS - - OSC - Oxidosqualene-lanosterol cyclase - - - gene with protein product - - - - Ensembl - ENSG00000160285 - - - Genatlas - LSS - - - HGNC - 6708 - - - IUPHAR - 2434 - - - OMIM - 600909 - - - Reactome - P48449 - - - SwissProt - P48449 - - - ClinVar - LSS - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33867527[PMID] - - progesterone receptor membrane component 1 - PGRMC1 - - HPR6.6 - - - gene with protein product - - - - SwissProt - O00264 - - - ClinVar - PGRMC1 - - - Reactome - O00264 - - - Ensembl - ENSG00000101856 - - - HGNC - 16090 - - - Genatlas - PGRMC1 - - - OMIM - 300435 - - - - - Xq24 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26788539[PMID] - - LEM domain nuclear envelope protein 2 - LEMD2 - - dJ482C21.1 - NET25 - LEM2 - lamina-associated polypeptide-emerin-MAN1 domain containing 2 - - - gene with protein product - - - - HGNC - 21244 - - - OMIM - 616312 - - - Genatlas - LEMD2 - - - SwissProt - Q8NC56 - - - Reactome - Q8NC56 - - - Ensembl - ENSG00000161904 - - - ClinVar - LEMD2 - - - - - 6p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30290152[PMID] - - dynamin binding protein - DNMBP - - KIAA1010 - Tuba - ARHGEF36 - scaffold protein TUBA - - - gene with protein product - - - - HGNC - 30373 - - - Ensembl - ENSG00000107554 - - - SwissProt - Q6XZF7 - - - Reactome - Q6XZF7 - - - OMIM - 611282 - - - - - 10q24.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 25804400[PMID] - - signal induced proliferation associated 1 like 3 - SIPA1L3 - - SPAR3 - spine-associated RapGAP 3 - KIAA0545 - spine‐associated RapGAP 3 - - - gene with protein product - - - - HGNC - 23801 - - - OMIM - 616655 - - - SwissProt - O60292 - - - Ensembl - ENSG00000105738 - - - - - 19q13.13-q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98993 - Early-onset posterior polar cataract - - Clinical subtype - - - Subtype of disorder - - - - 16636655[PMID]_21633712[PMID] - - paired like homeodomain 3 - PITX3 - - - - gene with protein product - - - - Ensembl - ENSG00000107859 - - - Genatlas - PITX3 - - - HGNC - 9006 - - - OMIM - 602669 - - - SwissProt - O75364 - - - ClinVar - PITX3 - - - - - 10q24.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16877416[PMID]_25195561[PMID] - - crystallin alpha B - CRYAB - - HSPB5 - - - gene with protein product - - - - ClinVar - CRYAB - - - Reactome - P02511 - - - SwissProt - P02511 - - - Ensembl - ENSG00000109846 - - - Genatlas - CRYAB - - - HGNC - 2389 - - - OMIM - 123590 - - - - - 11q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20142846[PMID] - - crystallin beta A1 - CRYBA1 - - eye lens structural protein - - - gene with protein product - - - - ClinVar - CRYBA1 - - - Reactome - P05813 - - - Ensembl - ENSG00000108255 - - - Genatlas - CRYBA1 - - - HGNC - 2394 - - - OMIM - 123610 - - - SwissProt - P05813 - - - - - 17q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21031021[PMID] - - gap junction protein alpha 3 - GJA3 - - CX46 - connexin 46 - - - gene with protein product - - - - ClinVar - GJA3 - - - Ensembl - ENSG00000121743 - - - Genatlas - GJA3 - - - HGNC - 4277 - - - OMIM - 121015 - - - Reactome - Q9Y6H8 - - - SwissProt - Q9Y6H8 - - - IUPHAR - 730 - - - - - 13q12.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25803033[PMID] - - major intrinsic protein of lens fiber - MIP - - AQP0 - LIM1 - MP26 - aquaporin 0 - - - gene with protein product - - - - Ensembl - ENSG00000135517 - - - Genatlas - MIP - - - HGNC - 7103 - - - OMIM - 154050 - - - Reactome - P30301 - - - SwissProt - P30301 - - - IUPHAR - 687 - - - ClinVar - MIP - - - - - 12q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17701905[PMID] - - charged multivesicular body protein 4B - CHMP4B - - VPS32B - dJ553F4.4 - SNF7-2 - Shax1 - - - gene with protein product - - - - Ensembl - ENSG00000101421 - - - Genatlas - CHMP4B - - - HGNC - 16171 - - - OMIM - 610897 - - - Reactome - Q9H444 - - - SwissProt - Q9H444 - - - ClinVar - CHMP4B - - - - - 20q11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19306328[PMID]_23447127[PMID] - - EPH receptor A2 - EPHA2 - - - - gene with protein product - - - - ClinVar - EPHA2 - - - Ensembl - ENSG00000142627 - - - Genatlas - EPHA2 - - - HGNC - 3386 - - - IUPHAR - 1822 - - - OMIM - 176946 - - - Reactome - P29317 - - - SwissProt - P29317 - - - - - 1p36.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30585370[PMID] - - pantothenate kinase 4 (inactive) - PANK4 - - FLJ10782 - - - gene with protein product - - - - HGNC - 19366 - - - Ensembl - ENSG00000157881 - - - SwissProt - Q9NVE7 - - - Reactome - Q9NVE7 - - - OMIM - 606162 - - - - - 1p36.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99001 - Butterfly-shaped pigment dystrophy - - Disease - - - Disorder - - - - 8485574[PMID] - - peripherin 2 - PRPH2 - - CACD2 - TSPAN22 - rd2 - retinal peripherin - tetraspanin-22 - choroidal dystrophy, central areolar 2 - - - gene with protein product - - - - ClinVar - PRPH2 - - - Ensembl - ENSG00000112619 - - - Genatlas - PRPH2 - - - HGNC - 9942 - - - OMIM - 179605 - - - SwissProt - P23942 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25293953[PMID] - - orthodenticle homeobox 2 - OTX2 - - - - gene with protein product - - - - SwissProt - P32243 - - - Ensembl - ENSG00000165588 - - - Genatlas - OTX2 - - - HGNC - 8522 - - - OMIM - 600037 - - - ClinVar - OTX2 - - - - - 14q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26691986[PMID] - - catenin alpha 1 - CTNNA1 - - alpha-E-catenin - CAP102 - - - gene with protein product - - - - Ensembl - ENSG00000044115 - - - Genatlas - CTNNA1 - - - HGNC - 2509 - - - OMIM - 116805 - - - Reactome - P35221 - - - SwissProt - P35221 - - - ClinVar - CTNNA1 - - - - - 5q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99002 - Reticular dystrophy of the retinal pigment epithelium - - Disease - - - Disorder - - - - 27486781[PMID] - - RCC1 and BTB domain containing protein 1 - RCBTB1 - - CLLD7 - CLLL7 - FLJ10716 - - - gene with protein product - - - - HGNC - 18243 - - - OMIM - 607867 - - - Genatlas - RCBTB1 - - - SwissProt - Q8NDN9 - - - Ensembl - ENSG00000136144 - - - ClinVar - RCBTB1 - - - - - 13q14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99000 - Adult-onset foveomacular vitelliform dystrophy - - Disease - - - Disorder - - - - 9338584[PMID]_10854112[PMID] - - peripherin 2 - PRPH2 - - CACD2 - TSPAN22 - rd2 - retinal peripherin - tetraspanin-22 - choroidal dystrophy, central areolar 2 - - - gene with protein product - - - - ClinVar - PRPH2 - - - Ensembl - ENSG00000112619 - - - Genatlas - PRPH2 - - - HGNC - 9942 - - - OMIM - 179605 - - - SwissProt - P23942 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 10854112[PMID] - - bestrophin 1 - BEST1 - - BEST - BMD - Best disease - RP50 - - - gene with protein product - - - - ClinVar - BEST1 - - - Ensembl - ENSG00000167995 - - - Genatlas - BEST1 - - - HGNC - 12703 - - - OMIM - 607854 - - - Reactome - O76090 - - - SwissProt - O76090 - - - - - 11q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25085631[PMID] - - interphotoreceptor matrix proteoglycan 2 - IMPG2 - - IPM200 - RP56 - SPACRCAN - - - gene with protein product - - - - Ensembl - ENSG00000081148 - - - Genatlas - IMPG2 - - - HGNC - 18362 - - - OMIM - 607056 - - - SwissProt - Q9BZV3 - - - ClinVar - IMPG2 - - - - - 3q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23993198[PMID] - - interphotoreceptor matrix proteoglycan 1 - IMPG1 - - GP147 - IPM150 - - - gene with protein product - - - - ClinVar - IMPG1 - - - Ensembl - ENSG00000112706 - - - Genatlas - IMPG1 - - - HGNC - 6055 - - - OMIM - 602870 - - - SwissProt - Q17R60 - - - - - 6q14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99003 - Multifocal pattern dystrophy simulating fundus flavimaculatus - - Disease - - - Disorder - - - - 17504850[PMID] - - peripherin 2 - PRPH2 - - CACD2 - TSPAN22 - rd2 - retinal peripherin - tetraspanin-22 - choroidal dystrophy, central areolar 2 - - - gene with protein product - - - - ClinVar - PRPH2 - - - Ensembl - ENSG00000112619 - - - Genatlas - PRPH2 - - - HGNC - 9942 - - - OMIM - 179605 - - - SwissProt - P23942 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99013 - Spastic paraplegia type 7 - - Disease - - - Disorder - - - - 17646629[PMID]_20301286[PMID] - - SPG7 matrix AAA peptidase subunit, paraplegin - SPG7 - - CAR - SPG5C - paraplegin - - - gene with protein product - - - - ClinVar - SPG7 - - - Reactome - Q9UQ90 - - - Ensembl - ENSG00000197912 - - - Genatlas - SPG7 - - - HGNC - 11237 - - - OMIM - 602783 - - - SwissProt - Q9UQ90 - - - - - 16q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99014 - X-linked Charcot-Marie-Tooth disease type 5 - - Disease - - - Disorder - - - - 20301731[PMID] - - phosphoribosyl pyrophosphate synthetase 1 - PRPS1 - - PRS I - ribose-phosphate diphosphokinase 1 - CMTX5 - DFNX1 - PRS-I - PPRibP - - - gene with protein product - - - - ClinVar - PRPS1 - - - Ensembl - ENSG00000147224 - - - Genatlas - PRPS1 - - - HGNC - 9462 - - - OMIM - 311850 - - - Reactome - P60891 - - - SwissProt - P60891 - - - - - Xq22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99015 - Spastic paraplegia type 2 - - Disease - - - Disorder - - - - 20301361[PMID] - - proteolipid protein 1 - PLP1 - - GPM6C - Pelizaeus-Merzbacher disease - - - gene with protein product - - - - Ensembl - ENSG00000123560 - - - Genatlas - PLP1 - - - HGNC - 9086 - - - OMIM - 300401 - - - SwissProt - P60201 - - - ClinVar - PLP1 - - - - - Xq22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 585877 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585877 - B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality - - Etiological subtype - - - Subtype of disorder - - - - 21304535[PMID]_26191303[PMID] - - platelet derived growth factor receptor alpha - PDGFRA - - CD140a - GAS9 - PDGFR2 - - - gene with protein product - - - - Ensembl - ENSG00000134853 - - - Genatlas - PDGFRA - - - HGNC - 8803 - - - IUPHAR - 1803 - - - OMIM - 173490 - - - Reactome - P16234 - - - SwissProt - P16234 - - - ClinVar - PDGFRA - - - - - 4q12 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 21962897[PMID] - - forkhead box P1 - FOXP1 - - 12CC4 - HSPC215 - PAX5/FOXP1 fusion protein - QRF1 - fork head-related protein like B - glutamine-rich factor 1 - hFKH1B - - - gene with protein product - - - - ClinVar - FOXP1 - - - Reactome - Q9H334 - - - Ensembl - ENSG00000114861 - - - Genatlas - FOXP1 - - - HGNC - 3823 - - - OMIM - 605515 - - - SwissProt - Q9H334 - - - - - 3p13 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 585909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585909 - B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) - - Etiological subtype - - - Subtype of disorder - - - - 18838613[PMID] - - cyclin dependent kinase inhibitor 2A - CDKN2A - - ARF - CDK4I - CMM2 - INK4 - INK4a - MTS1 - p14 - p14ARF - p16 - p16INK4a - p19 - p19Arf - inhibitor of cdk4 A - P16-INK4A - CDKN2A/ARF Intron 2 lncRNA - multiple tumour suppressor 1 - cyclin-dependent kinase 4 inhibitor A - p14 alternate open reading frame - p19 alternate open reading frame - CAI2 - - - gene with protein product - - - - Ensembl - ENSG00000147889 - - - Genatlas - CDKN2A - - - HGNC - 1787 - - - OMIM - 600160 - - - Reactome - P42771 - - - SwissProt - P42771 - - - ClinVar - CDKN2A - - - - - 9p21.3 - 1 - - - - - Biomarker tested in - - - Assessed - - - - 30561755[PMID] - - ABL proto-oncogene 1, non-receptor tyrosine kinase - ABL1 - - JTK7 - c-ABL - p150 - - - gene with protein product - - - - ClinVar - ABL1 - - - OMIM - 189980 - - - Reactome - P00519 - - - SwissProt - P00519 - - - Ensembl - ENSG00000097007 - - - Genatlas - ABL1 - - - HGNC - 76 - - - IUPHAR - 1923 - - - - - 9q34.12 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 23491079[PMID] - - BCR activator of RhoGEF and GTPase - BCR - - ALL - CML - D22S662 - PHL - - - gene with protein product - - - - ClinVar - BCR - - - Ensembl - ENSG00000186716 - - - Genatlas - BCR - - - HGNC - 1014 - - - IUPHAR - 2755 - - - OMIM - 151410 - - - Reactome - P11274 - - - SwissProt - P11274 - - - - - 22q11.23 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 19129520[PMID]_23751147[PMID]_19770381[PMID]_18408710[PMID] - - IKAROS family zinc finger 1 - IKZF1 - - Hs.54452 - IKAROS - LyF-1 - PPP1R92 - hIk-1 - protein phosphatase 1, regulatory subunit 92 - - - gene with protein product - - - - OMIM - 603023 - - - SwissProt - Q13422 - - - Ensembl - ENSG00000185811 - - - Genatlas - IKZF1 - - - HGNC - 13176 - - - Reactome - Q13422 - - - ClinVar - IKZF1 - - - - - 7p12.2 - 1 - - - - - Biomarker tested in - - - Assessed - - - - 34218582[PMID] - - tumor protein p53 - TP53 - - LFS1 - Li-Fraumeni syndrome - P53 - p53 - - - gene with protein product - - - - Ensembl - ENSG00000141510 - - - Genatlas - TP53 - - - HGNC - 11998 - - - OMIM - 191170 - - - Reactome - P04637 - - - SwissProt - P04637 - - - ClinVar - TP53 - - - - - 17p13.1 - 1 - - - - - Biomarker tested in - - - Assessed - - - - 16234090[PMID] - - fms related receptor tyrosine kinase 3 - FLT3 - - CD135 - FLK2 - STK1 - - - gene with protein product - - - - Ensembl - ENSG00000122025 - - - Genatlas - FLT3 - - - HGNC - 3765 - - - IUPHAR - 1807 - - - OMIM - 136351 - - - Reactome - P36888 - - - ClinVar - FLT3 - - - SwissProt - P36888 - - - - - 13q12.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 25163702[PMID] - - major histocompatibility complex, class I, C - HLA-C - - - - gene with protein product - - - - OMIM - 142840 - - - Reactome - P04222 - - - Ensembl - ENSG00000204525 - - - Genatlas - HLA-C - - - HGNC - 4933 - - - SwissProt - P10321 - - - Reactome - P10321 - - - ClinVar - HLA-C - - - - - 6p21.33 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 585936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585936 - B-lymphoblastic leukemia/lymphoma with hyperdiploidy - - Etiological subtype - - - Subtype of disorder - - - - 23996088[PMID]_24141364[PMID]_24203929[PMID] - - GATA binding protein 3 - GATA3 - - HDR - - - gene with protein product - - - - ClinVar - GATA3 - - - Ensembl - ENSG00000107485 - - - Genatlas - GATA3 - - - HGNC - 4172 - - - OMIM - 131320 - - - Reactome - P23771 - - - SwissProt - P23771 - - - - - 10p14 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23996088[PMID] - - phosphatidylinositol-5-phosphate 4-kinase type 2 alpha - PIP4K2A - - PIP5KIIA - PIP5KIIalpha - - - gene with protein product - - - - ClinVar - PIP4K2A - - - Ensembl - ENSG00000150867 - - - Genatlas - PIP4K2A - - - HGNC - 8997 - - - OMIM - 603140 - - - Reactome - P48426 - - - SwissProt - P48426 - - - IUPHAR - 2858 - - - - - 10p12.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 585918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585918 - B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) - - Etiological subtype - - - Subtype of disorder - - - - 30487223[PMID] - - lysine methyltransferase 2A - KMT2A - - HTRX - ALL1 - ALL-1 - CXXC7 - HRX - HTRX1 - MLL1A - TRX1 - MLL1 - Histone-lysine N-methyltransferase 2A - - - gene with protein product - - - - ClinVar - KMT2A - - - IUPHAR - 2688 - - - Ensembl - ENSG00000118058 - - - Genatlas - KMT2A - - - HGNC - 7132 - - - OMIM - 159555 - - - Reactome - Q03164 - - - SwissProt - Q03164 - - - - - 11q23.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 585929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585929 - B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) - - Etiological subtype - - - Subtype of disorder - - - - 23491079[PMID] - - ETS variant transcription factor 6 - ETV6 - - TEL - TEL oncogene - - - gene with protein product - - - - Reactome - P41212 - - - Ensembl - ENSG00000139083 - - - Genatlas - ETV6 - - - HGNC - 3495 - - - OMIM - 600618 - - - SwissProt - P41212 - - - ClinVar - ETV6 - - - - - 12p13.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 99027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99027 - Adult-onset autosomal dominant leukodystrophy - - Disease - - - Disorder - - - - 24501781[PMID]_23649844[PMID] - - lamin B1 - LMNB1 - - - - gene with protein product - - - - ClinVar - LMNB1 - - - Ensembl - ENSG00000113368 - - - Genatlas - LMNB1 - - - HGNC - 6637 - - - OMIM - 150340 - - - Reactome - P20700 - - - SwissProt - P20700 - - - - - 5q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 585956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585956 - B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) - - Etiological subtype - - - Subtype of disorder - - - - 31575852[PMID] - - transcription factor 3 - TCF3 - - E2A - E2A immunoglobulin enhancer-binding factor E12/E47 - E47 - ITF1 - MGC129647 - MGC129648 - VDIR - VDR interacting repressor - bHLHb21 - immunoglobulin transcription factor 1 - kappa-E2-binding factor - transcription factor E2-alpha - p75 - - - gene with protein product - - - - Ensembl - ENSG00000071564 - - - Genatlas - TCF3 - - - HGNC - 11633 - - - OMIM - 147141 - - - Reactome - P15923 - - - SwissProt - P15923 - - - ClinVar - TCF3 - - - - - 19p13.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 31575852[PMID] - - PBX homeobox 1 - PBX1 - - - - gene with protein product - - - - ClinVar - PBX1 - - - Ensembl - ENSG00000185630 - - - Genatlas - PBX1 - - - HGNC - 8632 - - - OMIM - 176310 - - - Reactome - P40424 - - - SwissProt - P40424 - - - - - 1q23.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 585948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585948 - B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) - - Etiological subtype - - - Subtype of disorder - - - - 1554798[PMID] - - immunoglobulin heavy locus - IGH - - - - gene with protein product - - - - OMIM - 146910 - - - OMIM - 147010 - - - ClinVar - IGH@ - - - Ensembl - - - - OMIM - 147070 - - - Genatlas - IGH@ - - - HGNC - 5477 - - - SwissProt - Q6P089 - - - - - 14q32.33 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 99042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99042 - Congenitally uncorrected transposition of the great arteries with coarctation - - Clinical subtype - - - Subtype of disorder - - - - 11799476[PMID] - - cryptic, EGF-CFC family member 1 - CFC1 - - CRYPTIC - - - gene with protein product - - - - ClinVar - CFC1 - - - Ensembl - ENSG00000136698 - - - Genatlas - CFC1 - - - HGNC - 18292 - - - OMIM - 605194 - - - Reactome - P0CG37 - - - SwissProt - P0CG37 - - - - - 2q21.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 98676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98676 - Autosomal recessive isolated optic atrophy - - Disease - - - Disorder - - - - 27495975[PMID] - - YME1 like 1 ATPase - YME1L1 - - YME1L - - - gene with protein product - - - - OMIM - 607472 - - - HGNC - 12843 - - - SwissProt - Q96TA2 - - - Ensembl - ENSG00000136758 - - - - - 10p12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25351951[PMID] - - aconitase 2 - ACO2 - - ACONM - aconitate hydratase, mitochondrial - mitochondrial aconitase - - - gene with protein product - - - - Ensembl - ENSG00000100412 - - - Genatlas - ACO2 - - - HGNC - 118 - - - OMIM - 100850 - - - Reactome - Q99798 - - - SwissProt - Q99798 - - - ClinVar - ACO2 - - - - - 22q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26593267[PMID] - - reticulon 4 interacting protein 1 - RTN4IP1 - - NIMP - - - gene with protein product - - - - OMIM - 610502 - - - Reactome - Q8WWV3 - - - Genatlas - RTN4IP1 - - - ClinVar - RTN4IP1 - - - Ensembl - ENSG00000130347 - - - HGNC - 18647 - - - SwissProt - Q8WWV3 - - - - - 6q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31915829[PMID] - - malonyl-CoA-acyl carrier protein transacylase - MCAT - - MT - MCT - fabD - FASN2C - NET62 - MCT1 - [acyl-carrier-protein] S-malonyltransferase - - - gene with protein product - - - - HGNC - 29622 - - - Ensembl - ENSG00000100294 - - - SwissProt - Q8IVS2 - - - Reactome - Q8IVS2 - - - OMIM - 614479 - - - - - 22q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98673 - Autosomal dominant optic atrophy, classic form - - Disease - - - Disorder - - - - 20301426[PMID] - - OPA1 mitochondrial dynamin like GTPase - OPA1 - - Dynamin-like 120 kDa protein, mitochondrial - FLJ12460 - KIAA0567 - MGM1 - NPG - NTG - dynamin-like guanosine triphosphatase - mitochondrial dynamin-like GTPase - - - gene with protein product - - - - Reactome - O60313 - - - Ensembl - ENSG00000198836 - - - Genatlas - OPA1 - - - HGNC - 8140 - - - OMIM - 605290 - - - SwissProt - O60313 - - - ClinVar - OPA1 - - - - - 3q29 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28969390[PMID] - - dynamin 1 like - DNM1L - - DRP1 - DVLP - DYMPLE - HDYNIV - VPS1 - - - gene with protein product - - - - ClinVar - DNM1L - - - Ensembl - ENSG00000087470 - - - Genatlas - DNM1L - - - HGNC - 2973 - - - OMIM - 603850 - - - Reactome - O00429 - - - SwissProt - O00429 - - - - - 12p11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98619 - Rare isolated myopia - - Disease - - - Disorder - - - - 24891338[PMID] - - solute carrier family 39 member 5 - SLC39A5 - - - - gene with protein product - - - - HGNC - 20502 - - - - - 12q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23643385[PMID] - - synthesis of cytochrome C oxidase 2 - SCO2 - - SCO1L - - - gene with protein product - - - - ClinVar - SCO2 - - - Genatlas - SCO2 - - - HGNC - 10604 - - - Ensembl - ENSG00000284194 - - - OMIM - 604272 - - - Reactome - O43819 - - - SwissProt - O43819 - - - - - 22q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21885030[PMID] - - prolyl 3-hydroxylase 2 - P3H2 - - FLJ10718 - MLAT4 - procollagen-proline 3-dioxygenase 2 - - - gene with protein product - - - - SwissProt - Q8IVL5 - - - ClinVar - LEPREL1 - - - Ensembl - ENSG00000090530 - - - Genatlas - LEPREL1 - - - HGNC - 19317 - - - OMIM - 610341 - - - Reactome - Q8IVL5 - - - - - 3q28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23830514[PMID] - - LDL receptor related protein associated protein 1 - LRPAP1 - - HBP44 - Alpha-2-MRAP - - - gene with protein product - - - - Ensembl - ENSG00000163956 - - - Genatlas - LRPAP1 - - - HGNC - 6701 - - - OMIM - 104225 - - - SwissProt - P30533 - - - Reactome - P30533 - - - ClinVar - LRPAP1 - - - - - 4p16.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 583602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583602 - Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency - - Etiological subtype - - - Subtype of disorder - - - - 25152457[PMID] - - phosphoserine aminotransferase 1 - PSAT1 - - PSAT - PSA - phosphoserine transaminase - - - gene with protein product - - - - Ensembl - ENSG00000135069 - - - Genatlas - PSAT1 - - - HGNC - 19129 - - - OMIM - 610936 - - - Reactome - Q9Y617 - - - SwissProt - Q9Y617 - - - ClinVar - PSAT1 - - - - - 9q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 583607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583607 - Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency - - Etiological subtype - - - Subtype of disorder - - - - 24836451[PMID] - - phosphoglycerate dehydrogenase - PHGDH - - PDG - PGDH - SERA - D-3-phosphoglycerate dehydrogenase - - - gene with protein product - - - - ClinVar - PHGDH - - - Ensembl - ENSG00000092621 - - - Genatlas - PHGDH - - - HGNC - 8923 - - - OMIM - 606879 - - - Reactome - O43175 - - - SwissProt - O43175 - - - - - 1p12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 583612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583612 - Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency - - Etiological subtype - - - Subtype of disorder - - - - 25152457[PMID] - - phosphoserine phosphatase - PSPH - - - - gene with protein product - - - - ClinVar - PSPH - - - Ensembl - ENSG00000146733 - - - Genatlas - PSPH - - - HGNC - 9577 - - - OMIM - 172480 - - - Reactome - P78330 - - - SwissProt - P78330 - - - - - 7p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98795 - Angelman syndrome due to paternal uniparental disomy of chromosome 15 - - Etiological subtype - - - Subtype of disorder - - - - 22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID] - - ubiquitin protein ligase E3A - UBE3A - - ANCR - AS - Angelman syndrome - E6-AP - FLJ26981 - - - gene with protein product - - - - ClinVar - UBE3A - - - Ensembl - ENSG00000114062 - - - Genatlas - UBE3A - - - HGNC - 12496 - - - OMIM - 601623 - - - Reactome - Q05086 - - - SwissProt - Q05086 - - - - - 15q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 98794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98794 - Angelman syndrome due to maternal 15q11q13 deletion - - Etiological subtype - - - Subtype of disorder - - - - 22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID] - - ubiquitin protein ligase E3A - UBE3A - - ANCR - AS - Angelman syndrome - E6-AP - FLJ26981 - - - gene with protein product - - - - ClinVar - UBE3A - - - Ensembl - ENSG00000114062 - - - Genatlas - UBE3A - - - HGNC - 12496 - - - OMIM - 601623 - - - Reactome - Q05086 - - - SwissProt - Q05086 - - - - - 15q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 10905897[PMID]_20301323[PMID] - - OCA2 melanosomal transmembrane protein - OCA2 - - BEY - BEY1 - BEY2 - EYCL - P-protein - melanocyte-specific transporter protein - SLC13B1 - - - gene with protein product - - - - Reactome - Q04671 - - - ClinVar - OCA2 - - - Ensembl - ENSG00000104044 - - - Genatlas - OCA2 - - - HGNC - 8101 - - - OMIM - 611409 - - - SwissProt - Q04671 - - - - - 15q12-q13.1 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 98791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98791 - Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 - - Malformation syndrome - - - Disorder - - - - - - hemoglobin subunit alpha 2 - HBA2 - - HBA-T2 - - - gene with protein product - - - - ClinVar - HBA2 - - - Ensembl - ENSG00000188536 - - - Genatlas - HBA2 - - - HGNC - 4824 - - - OMIM - 141850 - - - Reactome - P69905 - - - SwissProt - P69905 - - - - - 16p13.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - hemoglobin subunit alpha 1 - HBA1 - - HBA-T3 - - - gene with protein product - - - - ClinVar - HBA1 - - - Ensembl - ENSG00000206172 - - - Genatlas - HBA1 - - - HGNC - 4823 - - - OMIM - 141800 - - - Reactome - P69905 - - - SwissProt - P69905 - - - - - 16p13.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 98806 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98806 - Primary dystonia, DYT6 type - - Disease - - - Disorder - - - - 20301334[PMID] - - THAP domain containing 1 - THAP1 - - 4833431A01Rik - FLJ10477 - - - gene with protein product - - - - Ensembl - ENSG00000131931 - - - Genatlas - THAP1 - - - HGNC - 20856 - - - OMIM - 609520 - - - SwissProt - Q9NVV9 - - - Reactome - Q9NVV9 - - - ClinVar - THAP1 - - - - - 8p11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98805 - Primary dystonia, DYT4 type - - Disease - - - Disorder - - - - - - tubulin beta 4A class IVa - TUBB4A - - beta-5 - class IVa beta-tubulin - - - gene with protein product - - - - Ensembl - ENSG00000104833 - - - Genatlas - TUBB4A - - - HGNC - 20774 - - - OMIM - 602662 - - - Reactome - P04350 - - - SwissProt - P04350 - - - ClinVar - TUBB4A - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98784 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98784 - Sleep-related hypermotor epilepsy - - Disease - - - Disorder - - - - 7550350[PMID]_20301348[PMID] - - cholinergic receptor nicotinic alpha 4 subunit - CHRNA4 - - BFNC - acetylcholine receptor, nicotinic, alpha 4 (neuronal) - - - gene with protein product - - - - Reactome - P43681 - - - SwissProt - P43681 - - - Ensembl - ENSG00000101204 - - - Genatlas - CHRNA4 - - - HGNC - 1958 - - - IUPHAR - 465 - - - OMIM - 118504 - - - ClinVar - CHRNA4 - - - - - 20q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16826524[PMID]_20301348[PMID] - - cholinergic receptor nicotinic alpha 2 subunit - CHRNA2 - - acetylcholine receptor, nicotinic, alpha 2 (neuronal) - - - gene with protein product - - - - ClinVar - CHRNA2 - - - Ensembl - ENSG00000120903 - - - Genatlas - CHRNA2 - - - HGNC - 1956 - - - IUPHAR - 463 - - - OMIM - 118502 - - - Reactome - Q15822 - - - SwissProt - Q15822 - - - - - 8p21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 11062464[PMID]_20301348[PMID] - - cholinergic receptor nicotinic beta 2 subunit - CHRNB2 - - acetylcholine receptor, nicotinic, beta 2 (neuronal) - - - gene with protein product - - - - ClinVar - CHRNB2 - - - Ensembl - ENSG00000160716 - - - Genatlas - CHRNB2 - - - HGNC - 1962 - - - IUPHAR - 472 - - - OMIM - 118507 - - - Reactome - P17787 - - - SwissProt - P17787 - - - - - 1q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23086396[PMID] - - potassium sodium-activated channel subfamily T member 1 - KCNT1 - - KCa4.1 - KIAA1422 - SLACK - Sequence like a calcium-activated K+ channel - Slo2.2 - - - gene with protein product - - - - Ensembl - ENSG00000107147 - - - Genatlas - KCNT1 - - - HGNC - 18865 - - - IUPHAR - 385 - - - OMIM - 608167 - - - SwissProt - Q5JUK3 - - - ClinVar - KCNT1 - - - - - 9q34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23542697[PMID]_23542701[PMID] - - DEP domain containing 5, GATOR1 subcomplex subunit - DEPDC5 - - DEP.5 - KIAA0645 - - - gene with protein product - - - - Ensembl - ENSG00000100150 - - - Genatlas - DEPDC5 - - - HGNC - 18423 - - - OMIM - 614191 - - - SwissProt - O75140 - - - ClinVar - DEPDC5 - - - - - 22q12.2-q12.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 16222669[PMID]_20301348[PMID] - - corticotropin releasing hormone - CRH - - CRF - CRH1 - corticoliberin - corticotropin-releasing factor - - - gene with protein product - - - - ClinVar - CRH - - - Ensembl - ENSG00000147571 - - - Genatlas - CRH - - - HGNC - 2355 - - - OMIM - 122560 - - - Reactome - P06850 - - - SwissProt - P06850 - - - - - 8q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29108277[PMID] - - calcium binding protein 4 - CABP4 - - CSNB2B - - - gene with protein product - - - - Ensembl - ENSG00000175544 - - - Genatlas - CABP4 - - - HGNC - 1386 - - - OMIM - 608965 - - - SwissProt - P57796 - - - ClinVar - CABP4 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98764 - Spinocerebellar ataxia type 27A - - Disease - - - Disorder - - - - - - fibroblast growth factor 14 - FGF14 - - FHF4 - SCA27 - - - gene with protein product - - - - Ensembl - ENSG00000102466 - - - Genatlas - FGF14 - - - HGNC - 3671 - - - OMIM - 601515 - - - Reactome - Q92915 - - - SwissProt - Q92915 - - - ClinVar - FGF14 - - - - - 13q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98763 - Spinocerebellar ataxia type 14 - - Disease - - - Disorder - - - - - - protein kinase C gamma - PRKCG - - MGC57564 - PKC-gamma - PKCC - PKC? - PKCγ - - - gene with protein product - - - - Ensembl - ENSG00000126583 - - - Genatlas - PRKCG - - - HGNC - 9402 - - - IUPHAR - 1484 - - - OMIM - 176980 - - - Reactome - P05129 - - - SwissProt - P05129 - - - ClinVar - PRKCG - - - - - 19q13.42 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98766 - Spinocerebellar ataxia type 5 - - Disease - - - Disorder - - - - 20301317[PMID] - - spectrin beta, non-erythrocytic 2 - SPTBN2 - - - - gene with protein product - - - - Reactome - O15020 - - - SwissProt - O15020 - - - Ensembl - ENSG00000173898 - - - Genatlas - SPTBN2 - - - HGNC - 11276 - - - OMIM - 604985 - - - ClinVar - SPTBN2 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98765 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98765 - Spinocerebellar ataxia type 4 - - Disease - - - Disorder - - - - 21267591[PMID]_18293026[PMID]_20301317[PMID] - - pleckstrin homology and RhoGEF domain containing G4 - PLEKHG4 - - ARHGEF44 - DKFZP434I216 - puratrophin-1 - - - gene with protein product - - - - Reactome - Q58EX7 - - - Ensembl - ENSG00000196155 - - - Genatlas - PLEKHG4 - - - HGNC - 24501 - - - OMIM - 609526 - - - SwissProt - Q58EX7 - - - ClinVar - PLEKHG4 - - - - - 16q22.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 98760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98760 - Spinocerebellar ataxia type 8 - - Disease - - - Disorder - - - - - - ataxin 8 - ATXN8 - - - - gene with protein product - - - - Ensembl - ENSG00000288330 - - - ClinVar - ATXN8 - - - Genatlas - ATXN8 - - - HGNC - 32925 - - - OMIM - 613289 - - - SwissProt - Q156A1 - - - - - 13q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - ATXN8 opposite strand lncRNA - ATXN8OS - - NCRNA00003 - non-protein coding RNA 3 - - - Non-coding RNA - - - - ClinVar - ATXN8OS - - - SwissProt - P0DMR3 - - - Ensembl - ENSG00000230223 - - - Genatlas - ATXN8OS - - - HGNC - 10561 - - - OMIM - 603680 - - - - - 13q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98759 - Spinocerebellar ataxia type 17 - - Disease - - - Disorder - - - - - - TATA-box binding protein - TBP - - TFIID - Spinocerebellar ataxia 17 - TBP1 - - - gene with protein product - - - - Ensembl - ENSG00000112592 - - - Genatlas - TBP - - - HGNC - 11588 - - - OMIM - 600075 - - - Reactome - P20226 - - - SwissProt - P20226 - - - ClinVar - TBP - - - - - 6q27 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98762 - Spinocerebellar ataxia type 12 - - Disease - - - Disorder - - - - - - protein phosphatase 2 regulatory subunit Bbeta - PPP2R2B - - PP2A subunit B isoform beta - PR52B - PR55-BETA - B55beta - - - gene with protein product - - - - Reactome - Q00005 - - - ClinVar - PPP2R2B - - - Ensembl - ENSG00000156475 - - - Genatlas - PPP2R2B - - - HGNC - 9305 - - - OMIM - 604325 - - - SwissProt - Q00005 - - - - - 5q32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98761 - Spinocerebellar ataxia type 10 - - Disease - - - Disorder - - - - - - ataxin 10 - ATXN10 - - E46L - FLJ37990 - ATX10 - - - gene with protein product - - - - Reactome - Q9UBB4 - - - ClinVar - ATXN10 - - - Ensembl - ENSG00000130638 - - - Genatlas - ATXN10 - - - HGNC - 10549 - - - OMIM - 611150 - - - SwissProt - Q9UBB4 - - - - - 22q13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98772 - Spinocerebellar ataxia type 19/22 - - Disease - - - Disorder - - - - 22890214[PMID] - - potassium voltage-gated channel subfamily D member 3 - KCND3 - - KSHIVB - Kv4.3 - - - gene with protein product - - - - ClinVar - KCND3 - - - Ensembl - ENSG00000171385 - - - Genatlas - KCND3 - - - HGNC - 6239 - - - IUPHAR - 554 - - - OMIM - 605411 - - - Reactome - Q9UK17 - - - SwissProt - Q9UK17 - - - - - 1p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98771 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98771 - Spinocerebellar ataxia type 18 - - Disease - - - Disorder - - - - - - interferon related developmental regulator 1 - IFRD1 - - PC4 - TIS7 - - - gene with protein product - - - - ClinVar - IFRD1 - - - Ensembl - ENSG00000006652 - - - Genatlas - IFRD1 - - - HGNC - 5456 - - - OMIM - 603502 - - - SwissProt - O00458 - - - - - 7q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98773 - Spinocerebellar ataxia type 21 - - Disease - - - Disorder - - - - 25070513[PMID] - - transmembrane protein 240 - TMEM240 - - - - gene with protein product - - - - Ensembl - ENSG00000205090 - - - Genatlas - TMEM240 - - - HGNC - 25186 - - - OMIM - 616101 - - - SwissProt - Q5SV17 - - - ClinVar - TMEM240 - - - - - 1p36.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98768 - Spinocerebellar ataxia type 13 - - Disease - - - Disorder - - - - - - potassium voltage-gated channel subfamily C member 3 - KCNC3 - - Kv3.3 - - - gene with protein product - - - - HGNC - 6235 - - - IUPHAR - 550 - - - OMIM - 176264 - - - Reactome - Q14003 - - - SwissProt - Q14003 - - - Ensembl - ENSG00000131398 - - - Genatlas - KCNC3 - - - ClinVar - KCNC3 - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98767 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98767 - Spinocerebellar ataxia type 11 - - Disease - - - Disorder - - - - 20301317[PMID] - - tau tubulin kinase 2 - TTBK2 - - KIAA0847 - - - gene with protein product - - - - ClinVar - TTBK2 - - - SwissProt - Q6IQ55 - - - Ensembl - ENSG00000128881 - - - Genatlas - TTBK2 - - - HGNC - 19141 - - - IUPHAR - 2263 - - - OMIM - 611695 - - - Reactome - Q6IQ55 - - - - - 15q15.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98769 - Spinocerebellar ataxia type 15/16 - - Disease - - - Disorder - - - - - - inositol 1,4,5-trisphosphate receptor type 1 - ITPR1 - - ACV - IP3R1 - Insp3r1 - PPP1R94 - protein phosphatase 1, regulatory subunit 94 - - - gene with protein product - - - - Ensembl - ENSG00000150995 - - - Genatlas - ITPR1 - - - HGNC - 6180 - - - OMIM - 147265 - - - Reactome - Q14643 - - - SwissProt - Q14643 - - - ClinVar - ITPR1 - - - IUPHAR - 743 - - - - - 3p26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 580940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580940 - QRICH1-related intellectual disability-chondrodysplasia syndrome - - Malformation syndrome - - - Disorder - - - - 28692176[PMID]_30281152[PMID] - - glutamine rich 1 - QRICH1 - - FLJ20259 - AB-DIP - VERBRAS - - - gene with protein product - - - - HGNC - 24713 - - - Ensembl - ENSG00000198218 - - - SwissProt - Q2TAL8 - - - OMIM - 617387 - - - Reactome - Q2TAL8 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 580933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580933 - Lethal brain and heart developmental defects - - Malformation syndrome - - - Disorder - - - - 29555651[PMID] - - sirtuin 6 - SIRT6 - - - - gene with protein product - - - - HGNC - 14934 - - - Ensembl - ENSG00000077463 - - - SwissProt - Q8N6T7 - - - Reactome - Q8N6T7 - - - IUPHAR - 2712 - - - OMIM - 606211 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 98755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98755 - Spinocerebellar ataxia type 1 - - Disease - - - Disorder - - - - - - ataxin 1 - ATXN1 - - ATX1 - D6S504E - - - gene with protein product - - - - Ensembl - ENSG00000124788 - - - Genatlas - ATXN1 - - - HGNC - 10548 - - - OMIM - 601556 - - - ClinVar - ATXN1 - - - Reactome - P54253 - - - SwissProt - P54253 - - - - - 6p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98756 - Spinocerebellar ataxia type 2 - - Disease - - - Disorder - - - - - - ataxin 2 - ATXN2 - - ATX2 - trinucleotide repeat containing 13 - - - gene with protein product - - - - Reactome - Q99700 - - - ClinVar - ATXN2 - - - Ensembl - ENSG00000204842 - - - Genatlas - ATXN2 - - - HGNC - 10555 - - - OMIM - 601517 - - - SwissProt - Q99700 - - - - - 12q24.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98758 - Spinocerebellar ataxia type 6 - - Disease - - - Disorder - - - - 20301317[PMID] - - calcium voltage-gated channel subunit alpha1 A - CACNA1A - - APCA - Cav2.1 - EA2 - FHM - HPCA - - - gene with protein product - - - - ClinVar - CACNA1A - - - Ensembl - ENSG00000141837 - - - Genatlas - CACNA1A - - - HGNC - 1388 - - - IUPHAR - 532 - - - OMIM - 601011 - - - Reactome - O00555 - - - SwissProt - O00555 - - - - - 19p13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 581271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581271 - Cramp-fasciculation syndrome - - Disease - - - Disorder - - - - 28436534[PMID] - - transient receptor potential cation channel subfamily A member 1 - TRPA1 - - - - gene with protein product - - - - ClinVar - TRPA1 - - - SwissProt - O75762 - - - Ensembl - ENSG00000104321 - - - Genatlas - TRPA1 - - - HGNC - 497 - - - IUPHAR - 485 - - - OMIM - 604775 - - - Reactome - O75762 - - - - - 8q21.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98754 - Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 - - Etiological subtype - - - Subtype of disorder - - - - 20301505[PMID] - - small nuclear ribonucleoprotein polypeptide N - SNRPN - - HCERN3 - RT-LI - SM protein N - SM-D - SMN - SNRNP-N - SNURF-SNRPN - small nuclear ribonucleoprotein N - tissue-specific splicing protein - - - gene with protein product - - - - Reactome - P63162 - - - Ensembl - ENSG00000128739 - - - Genatlas - SNRPN - - - HGNC - 11164 - - - OMIM - 182279 - - - SwissProt - P63162 - - - ClinVar - SNRPN - - - - - 15q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 20301505[PMID] - - MAGE family member L2 - MAGEL2 - - nM15 - - - gene with protein product - - - - Reactome - Q9UJ55 - - - ClinVar - MAGEL2 - - - Ensembl - ENSG00000254585 - - - Genatlas - MAGEL2 - - - HGNC - 6814 - - - OMIM - 605283 - - - SwissProt - Q9UJ55 - - - - - 15q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 20301505[PMID] - - necdin, MAGE family member - NDN - - HsT16328 - PWCR - Prader-Willi syndrome chromosome region - - - gene with protein product - - - - Reactome - Q99608 - - - ClinVar - NDN - - - Ensembl - ENSG00000182636 - - - Genatlas - NDN - - - HGNC - 7675 - - - OMIM - 602117 - - - SwissProt - Q99608 - - - - - 15q11.2 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 20301505[PMID] - - OCA2 melanosomal transmembrane protein - OCA2 - - BEY - BEY1 - BEY2 - EYCL - P-protein - melanocyte-specific transporter protein - SLC13B1 - - - gene with protein product - - - - Reactome - Q04671 - - - ClinVar - OCA2 - - - Ensembl - ENSG00000104044 - - - Genatlas - OCA2 - - - HGNC - 8101 - - - OMIM - 611409 - - - SwissProt - Q04671 - - - - - 15q12-q13.1 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 576232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576232 - Partial atrioventricular septal defect with ventricular hypoplasia - - Clinical subtype - - - Subtype of disorder - - - - 17643447[PMID] - - GATA binding protein 4 - GATA4 - - - - gene with protein product - - - - ClinVar - GATA4 - - - Ensembl - ENSG00000136574 - - - Genatlas - GATA4 - - - HGNC - 4173 - - - OMIM - 600576 - - - Reactome - P43694 - - - SwissProt - P43694 - - - - - 8p23.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 576235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576235 - Partial atrioventricular septal defect without ventricular hypoplasia - - Clinical subtype - - - Subtype of disorder - - - - 12632326[PMID]_15096951[PMID]_21080147[PMID] - - cysteine rich with EGF like domains 1 - CRELD1 - - CIRRIN - - - gene with protein product - - - - ClinVar - CRELD1 - - - Ensembl - ENSG00000163703 - - - Genatlas - CRELD1 - - - HGNC - 14630 - - - OMIM - 607170 - - - SwissProt - Q96HD1 - - - - - 3p25.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 576227 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576227 - Complete atrioventricular septal defect without ventricular hypoplasia - - Clinical subtype - - - Subtype of disorder - - - - 35719119[PMID] - - myocyte enhancer factor 2C - MEF2C - - - - gene with protein product - - - - Reactome - Q06413 - - - SwissProt - Q06413 - - - Ensembl - ENSG00000081189 - - - Genatlas - MEF2C - - - HGNC - 6996 - - - OMIM - 600662 - - - ClinVar - MEF2C - - - - - 5q14.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 575553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=575553 - Cathepsin A-related arteriopathy-strokes-leukoencephalopathy - - Disease - - - Disorder - - - - 31177426[PMID] - - cathepsin A - CTSA - - carboxypeptidase C - carboxypeptidase Y-like kininase - carboxypeptidase-L - deamidase - lysosomal carboxypeptidase A - lysosomal protective protein - urinary kininase - - - gene with protein product - - - - ClinVar - CTSA - - - Ensembl - ENSG00000064601 - - - Genatlas - CTSA - - - HGNC - 9251 - - - IUPHAR - 1581 - - - OMIM - 613111 - - - Reactome - P10619 - - - SwissProt - P10619 - - - - - 20q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 576349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576349 - NLRC4-related familial cold autoinflammatory syndrome - - Disease - - - Disorder - - - - 25385754[PMID]_31953710[PMID]_28957823[PMID]_29247997[PMID]_29496273[PMID] - - NLR family CARD domain containing 4 - NLRC4 - - CLAN - CLAN1 - CLANA - CLANB - CLANC - CLAND - CLR2.1 - NOD-like receptor C4 - ipaf - nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4 - - - gene with protein product - - - - Ensembl - ENSG00000091106 - - - ClinVar - NLRC4 - - - Genatlas - NLRC4 - - - HGNC - 16412 - - - IUPHAR - 1782 - - - OMIM - 606831 - - - Reactome - Q9NPP4 - - - SwissProt - Q9NPP4 - - - - - 2p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 576283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576283 - SATB2-associated syndrome due to a pathogenic variant - - Etiological subtype - - - Subtype of disorder - - - - 29023086[PMID]_31021519[PMID] - - SATB homeobox 2 - SATB2 - - FLJ21474 - KIAA1034 - - - gene with protein product - - - - Reactome - Q9UPW6 - - - Ensembl - ENSG00000119042 - - - Genatlas - SATB2 - - - HGNC - 21637 - - - OMIM - 608148 - - - SwissProt - Q9UPW6 - - - ClinVar - SATB2 - - - - - 2q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 574957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=574957 - Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency - - Disease - - - Disorder - - - - 30264912[PMID] - - Janus kinase 1 - JAK1 - - JAK1A - JTK3 - - - gene with protein product - - - - HGNC - 6190 - - - SwissProt - P23458 - - - OMIM - 147795 - - - ClinVar - JAK1 - - - IUPHAR - 2047 - - - Ensembl - ENSG00000162434 - - - Genatlas - JAK1 - - - - - 1p31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 574918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=574918 - Predisposition to severe viral infection due to IRF7 deficiency - - Disease - - - Disorder - - - - 25814066[PMID] - - interferon regulatory factor 7 - IRF7 - - - - gene with protein product - - - - Genatlas - IRF7 - - - SwissProt - Q92985 - - - OMIM - 605047 - - - ClinVar - IRF7 - - - HGNC - 6122 - - - Reactome - Q92985 - - - Ensembl - ENSG00000185507 - - - - - 11p15.5 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 572385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572385 - Brachydactyly type B1 - - Clinical subtype - - - Subtype of disorder - - - - 24954533[PMID]_18554391[PMID] - - receptor tyrosine kinase like orphan receptor 2 - ROR2 - - - - gene with protein product - - - - Ensembl - ENSG00000169071 - - - Genatlas - ROR2 - - - HGNC - 10257 - - - IUPHAR - 1846 - - - OMIM - 602337 - - - Reactome - Q01974 - - - SwissProt - Q01974 - - - ClinVar - ROR2 - - - - - 9q22.31 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 572361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572361 - Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 - - Clinical subtype - - - Subtype of disorder - - - - 30029625[PMID]_31823134[PMID] - - forkhead box L2 - FOXL2 - - BPES1 - - - gene with protein product - - - - Ensembl - ENSG00000183770 - - - Genatlas - FOXL2 - - - HGNC - 1092 - - - ClinVar - FOXL2 - - - OMIM - 605597 - - - SwissProt - P58012 - - - Reactome - P58012 - - - - - 3q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 572428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572428 - Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia - - Disease - - - Disorder - - - - 29455859[PMID]_31953170[PMID] - - 2'-5'-oligoadenylate synthetase 1 - OAS1 - - 2'-5' oligoadenylate synthase 1 - IFI-4 - OIASI - - - gene with protein product - - - - ClinVar - OAS1 - - - HGNC - 8086 - - - Ensembl - ENSG00000089127 - - - SwissProt - P00973 - - - OMIM - 164350 - - - Genatlas - OAS1 - - - Reactome - P00973 - - - - - 12q24.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 98434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98434 - Hereditary combined deficiency of vitamin K-dependent clotting factors - - Disease - - - Disorder - - - - 16720838[PMID] - - gamma-glutamyl carboxylase - GGCX - - VKCFD1 - vitamin K-dependent gamma-carboxylase - peptidyl-glutamate 4-carboxylase - - - gene with protein product - - - - ClinVar - GGCX - - - Ensembl - ENSG00000115486 - - - Genatlas - GGCX - - - HGNC - 4247 - - - IUPHAR - 1268 - - - OMIM - 137167 - - - Reactome - P38435 - - - SwissProt - P38435 - - - - - 2p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 14765194[PMID] - - vitamin K epoxide reductase complex subunit 1 - VKORC1 - - - - gene with protein product - - - - Ensembl - ENSG00000167397 - - - Genatlas - VKORC1 - - - HGNC - 23663 - - - IUPHAR - 2645 - - - OMIM - 608547 - - - Reactome - Q9BQB6 - - - SwissProt - Q9BQB6 - - - ClinVar - VKORC1 - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 572543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572543 - RFVT2-related riboflavin transporter deficiency - - Clinical subtype - - - Subtype of disorder - - - - 26973221[PMID]_30793323[PMID] - - solute carrier family 52 member 2 - SLC52A2 - - HuPAR-1 - G-protein coupled receptor 41 - D15Ertd747e - FLJ11856 - GPCR41 - PAR1 - RFVT2 - hRFT3 - human porcine endogenous retrovirus subgroup A receptor 1 - RFT3 - - - gene with protein product - - - - Reactome - Q9HAB3 - - - IUPHAR - 2572 - - - Ensembl - ENSG00000185803 - - - Genatlas - SLC52A2 - - - HGNC - 30224 - - - OMIM - 607882 - - - SwissProt - Q9HAB3 - - - ClinVar - SLC52A2 - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 572550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572550 - RFVT3-related riboflavin transporter deficiency - - Clinical subtype - - - Subtype of disorder - - - - 26973221[PMID]_30793323[PMID] - - solute carrier family 52 member 3 - SLC52A3 - - RFT2 - RFVT3 - bA371L19.1 - hRFT2 - hypothetical protein LOC113278 - - - gene with protein product - - - - IUPHAR - 2573 - - - ClinVar - SLC52A3 - - - Ensembl - ENSG00000101276 - - - Genatlas - SLC52A3 - - - HGNC - 16187 - - - OMIM - 613350 - - - Reactome - Q9NQ40 - - - SwissProt - Q9NQ40 - - - - - 20p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 572773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572773 - Microcephaly-short stature-limb abnormalities syndrome - - Clinical subtype - - - Subtype of disorder - - - - 28191891[PMID]_28630177[PMID]_31191207[PMID]_31320746[PMID] - - DNA replication fork stabilization factor DONSON - DONSON - - B17 - C2TA - DKFZP434M035 - - - gene with protein product - - - - ClinVar - DONSON - - - HGNC - 2993 - - - Ensembl - ENSG00000159147 - - - SwissProt - Q9NYP3 - - - OMIM - 611428 - - - Genatlas - DONSON - - - - - 21q22.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 572798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572798 - WARS2-related combined oxidative phosphorylation defect - - Disease - - - Disorder - - - - 28236339[PMID]_29783990[PMID] - - tryptophanyl tRNA synthetase 2, mitochondrial - WARS2 - - TrpRS - mtTrpRS - tryptophan tRNA ligase 2, mitochondrial - - - gene with protein product - - - - Genatlas - WARS2 - - - HGNC - 12730 - - - SwissProt - Q9UGM6 - - - OMIM - 604733 - - - Ensembl - ENSG00000116874 - - - Reactome - Q9UGM6 - - - ClinVar - WARS2 - - - - - 1p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 572768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572768 - Microcephaly-micromelia syndrome - - Clinical subtype - - - Subtype of disorder - - - - 28191891[PMID]_28630177[PMID]_31191207[PMID]_31320746[PMID] - - DNA replication fork stabilization factor DONSON - DONSON - - B17 - C2TA - DKFZP434M035 - - - gene with protein product - - - - ClinVar - DONSON - - - HGNC - 2993 - - - Ensembl - ENSG00000159147 - - - SwissProt - Q9NYP3 - - - OMIM - 611428 - - - Genatlas - DONSON - - - - - 21q22.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 572013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572013 - Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome - - Malformation syndrome - - - Disorder - - - - 30471716[PMID]_24507697[PMID]_24932993[PMID] - - microtubule actin crosslinking factor 1 - MACF1 - - KIAA0465 - ACF7 - ABP620 - KIAA1251 - MACF - FLJ45612 - FLJ46776 - actin cross-linking factor - 620 kDa actin binding protein - macrophin 1 - trabeculin-alpha - actin cross-linking family protein 7 - postulated migration inhibitory factor - Lnc-PMIF - - - gene with protein product - - - - HGNC - 13664 - - - Ensembl - ENSG00000127603 - - - SwissProt - Q9UPN3 - - - Reactome - Q9UPN3 - - - OMIM - 608271 - - - - - 1p34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32097630[PMID] - - centrosomal protein 85L - CEP85L - - NY-BR-15 - bA57K17.2 - - - gene with protein product - - - - Ensembl - ENSG00000111860 - - - OMIM - 618865 - - - SwissProt - Q5SZL2 - - - HGNC - 21638 - - - - - 6q22.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 572333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572333 - Blepharophimosis-ptosis-epicanthus inversus syndrome plus - - Malformation syndrome - - - Disorder - - - - 21934608[PMID]_25032695[PMID]_24725350[PMID] - - forkhead box L2 - FOXL2 - - BPES1 - - - gene with protein product - - - - Ensembl - ENSG00000183770 - - - Genatlas - FOXL2 - - - HGNC - 1092 - - - ClinVar - FOXL2 - - - OMIM - 605597 - - - SwissProt - P58012 - - - Reactome - P58012 - - - - - 3q22.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 572354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572354 - Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 - - Clinical subtype - - - Subtype of disorder - - - - 30029625[PMID]_31823134[PMID] - - forkhead box L2 - FOXL2 - - BPES1 - - - gene with protein product - - - - Ensembl - ENSG00000183770 - - - Genatlas - FOXL2 - - - HGNC - 1092 - - - ClinVar - FOXL2 - - - OMIM - 605597 - - - SwissProt - P58012 - - - Reactome - P58012 - - - - - 3q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 570491 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570491 - QRSL1-related combined oxidative phosphorylation defect - - Disease - - - Disorder - - - - 30237576[PMID]_30283131[PMID] - - glutaminyl-tRNA amidotransferase subunit QRSL1 - QRSL1 - - DKFZP564C1278 - FLJ10989 - FLJ12189 - FLJ13447 - GatA - glutamyl-tRNA(Gln) amidotransferase, subunit A - GATA - - - gene with protein product - - - - ClinVar - QRSL1 - - - HGNC - 21020 - - - Ensembl - ENSG00000130348 - - - SwissProt - Q9H0R6 - - - OMIM - 617209 - - - Genatlas - QRSL1 - - - - - 6q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 570422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570422 - Galactose mutarotase deficiency - - Disease - - - Disorder - - - - 30451973[PMID] - - galactose mutarotase - GALM - - aldose 1-epimerase - aldose mutarotase - galactomutarotase - - - gene with protein product - - - - HGNC - 24063 - - - Ensembl - ENSG00000143891 - - - SwissProt - Q96C23 - - - OMIM - 137030 - - - - - 2p22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 570371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570371 - Bartter syndrome type 5 - - Clinical subtype - - - Subtype of disorder - - - - 27120771[PMID] - - MAGE family member D2 - MAGED2 - - 11B6 - BCG1 - breast cancer associated gene 1 - HCA10 - hepatocellular carcinoma associated protein - hepatocellular carcinoma-associated protein HCA10 - JCL-1 - MAGE-D2 - MAGED - melanoma-associated antigen D2 - MGC8386 - - - gene with protein product - - - - HGNC - 16353 - - - OMIM - 300470 - - - Genatlas - MAGED2 - - - SwissProt - Q9UNF1 - - - Ensembl - ENSG00000102316 - - - Reactome - Q9UNF1 - - - ClinVar - MAGED2 - - - - - Xp11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 694963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694963 - Inflammatory breast cancer - - Disease - - - Disorder - - - - 34445631[PMID] - - BRCA1 DNA repair associated - BRCA1 - - BRCA1/BRCA2-containing complex, subunit 1 - BRCC1 - FANCS - Fanconi anemia, complementation group S - PPP1R53 - RNF53 - protein phosphatase 1, regulatory subunit 53 - - - gene with protein product - - - - Ensembl - ENSG00000012048 - - - Genatlas - BRCA1 - - - HGNC - 1100 - - - OMIM - 113705 - - - Reactome - P38398 - - - SwissProt - P38398 - - - ClinVar - BRCA1 - - - - - 17q21.31 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 34445631[PMID] - - BRCA2 DNA repair associated - BRCA2 - - BRCA1/BRCA2-containing complex, subunit 2 - BRCC2 - FAD - FAD1 - XRCC11 - - - gene with protein product - - - - SwissProt - P51587 - - - Ensembl - ENSG00000139618 - - - Genatlas - BRCA2 - - - HGNC - 1101 - - - OMIM - 600185 - - - Reactome - P51587 - - - ClinVar - BRCA2 - - - - - 13q13.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 694946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694946 - Alazami-Yuan syndrome - - Malformation syndrome - - - Disorder - - - - 25574841[PMID]_32030742[PMID]_35317131[PMID] - - TATA-box binding protein associated factor 6 - TAF6 - - TAFII85 - MGC:8964 - TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD - TAFII70 - TAFII80 - transcription initiation factor TFIID 70 kD subunit - - - gene with protein product - - - - SwissProt - P49848 - - - HGNC - 11540 - - - Ensembl - ENSG00000106290 - - - OMIM - 602955 - - - - - 7q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 694956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694956 - Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome - - Malformation syndrome - - - Disorder - - - - 34515416[PMID] - - zinc finger and BTB domain containing 7A - ZBTB7A - - LRF - POK erythroid myeloid ontogenic factor - leukemia/lymphoma related factor - ZNF857A - lymphoma related factor - DKFZp547O146 - pokemon - zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein - FBI-1 - - - gene with protein product - - - - OMIM - 605878 - - - SwissProt - O95365 - - - Ensembl - ENSG00000178951 - - - HGNC - 18078 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 694356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694356 - ADAR-related hereditary spastic paraplegia - - Disease - - - Disorder - - - - 25243380[PMID]_25604658[PMID] - - adenosine deaminase RNA specific - ADAR - - ADAR1 - DRADA - Double-stranded RNA-specific adenosine deaminase - - - gene with protein product - - - - Ensembl - ENSG00000160710 - - - Genatlas - ADAR - - - HGNC - 225 - - - OMIM - 146920 - - - Reactome - P55265 - - - SwissProt - P55265 - - - ClinVar - ADAR - - - - - 1q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 694937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694937 - Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency - - Malformation syndrome - - - Disorder - - - - 38141063[PMID] - - nudix hydrolase 2 - NUDT2 - - bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) - diadenosine tetraphosphatase - diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase - Ap4A hydrolase 1 - Ap4Aase - - - gene with protein product - - - - HGNC - 8049 - - - Ensembl - ENSG00000164978 - - - OMIM - 602852 - - - SwissProt - P50583 - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 694922 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694922 - Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome - - Disease - - - Disorder - - - - 30100084[PMID] - - ADP-ribosylserine hydrolase - ADPRS - - FLJ20446 - ADP-ribosylarginine hydrolase like 2 - ARH3 - - - gene with protein product - - - - HGNC - 21304 - - - Ensembl - ENSG00000116863 - - - OMIM - 610624 - - - SwissProt - Q9NX46 - - - - - 1p34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 693912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693912 - EPHB4-related capillary malformation-arteriovenous malformation - - Malformation syndrome - - - Disorder - - - - 30760892[PMID] - - EPH receptor B4 - EPHB4 - - Tyro11 - - - gene with protein product - - - - SwissProt - P54760 - - - ClinVar - EPHB4 - - - Ensembl - ENSG00000196411 - - - IUPHAR - 1833 - - - OMIM - 600011 - - - HGNC - 3395 - - - Genatlas - EPHB4 - - - - - 7q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 693907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693907 - RASA1-related capillary malformation-arteriovenous malformation - - Malformation syndrome - - - Disorder - - - - 14639529[PMID]_21348050[PMID] - - RAS p21 protein activator 1 - RASA1 - - Ras GTPase-activating protein 1 - CM-AVM - GAP - capillary malformation-arteriovenous malformation - p120 - p120 RAS GTPase activating protein - p120GAP - p120RASGAP - - - gene with protein product - - - - ClinVar - RASA1 - - - Ensembl - ENSG00000145715 - - - Genatlas - RASA1 - - - HGNC - 9871 - - - OMIM - 139150 - - - Reactome - P20936 - - - SwissProt - P20936 - - - - - 5q14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 694308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694308 - ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation - - Etiological subtype - - - Subtype of disorder - - - - 38397245[PMID] - - zinc finger MYND-type containing 11 - ZMYND11 - - BS69 - BRAM1 - - - gene with protein product - - - - ClinVar - ZMYND11 - - - Reactome - Q15326 - - - Ensembl - ENSG00000015171 - - - Genatlas - ZMYND11 - - - HGNC - 16966 - - - IUPHAR - 2782 - - - OMIM - 608668 - - - SwissProt - Q15326 - - - - - 10p15.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 696189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696189 - Congenital generalized lipodystrophy type 1 - - Clinical subtype - - - Subtype of disorder - - - - 20301391[PMID] - - 1-acylglycerol-3-phosphate O-acyltransferase 2 - AGPAT2 - - LPAAT-beta - lysophosphatidic acid acyltransferase, beta - lysophosphatidic acid acyltransferase-beta - lysophospholipid acyltransferase 2 - LPLAT2 - 1-acyl-sn-glycerol-3-phosphate acyltransferase beta - - - gene with protein product - - - - Ensembl - ENSG00000169692 - - - Genatlas - AGPAT2 - - - HGNC - 325 - - - OMIM - 603100 - - - Reactome - O15120 - - - SwissProt - O15120 - - - ClinVar - AGPAT2 - - - - - 9q34.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 696206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696206 - Congenital generalized lipodystrophy type 3 - - Clinical subtype - - - Subtype of disorder - - - - 18211975[PMID] - - caveolin 1 - CAV1 - - - - gene with protein product - - - - Ensembl - ENSG00000105974 - - - Genatlas - CAV1 - - - HGNC - 1527 - - - OMIM - 601047 - - - Reactome - Q03135 - - - SwissProt - Q03135 - - - ClinVar - CAV1 - - - - - 7q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 696242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696242 - PPARG-associated congenital generalized lipodystrophy - - Clinical subtype - - - Subtype of disorder - - - - 24980513[PMID]_36806620[PMID] - - peroxisome proliferator activated receptor gamma - PPARG - - PPARG2 - PPARgamma - NR1C3 - PPARG1 - - - gene with protein product - - - - Ensembl - ENSG00000132170 - - - Genatlas - PPARG - - - ClinVar - PPARG - - - HGNC - 9236 - - - IUPHAR - 595 - - - OMIM - 601487 - - - Reactome - P37231 - - - SwissProt - P37231 - - - - - 3p25.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 696289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696289 - Congenital generalized lipodystrophy type 2 - - Clinical subtype - - - Subtype of disorder - - - - 20301391[PMID] - - BSCL2 lipid droplet biogenesis associated, seipin - BSCL2 - - seipin - - - gene with protein product - - - - Ensembl - ENSG00000168000 - - - Genatlas - BSCL2 - - - HGNC - 15832 - - - OMIM - 606158 - - - SwissProt - Q96G97 - - - ClinVar - BSCL2 - - - - - 11q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 695783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695783 - EDEM3-CDG - - Disease - - - Disorder - - - - 34143952[PMID] - - ER degradation enhancing alpha-mannosidase like protein 3 - EDEM3 - - - - gene with protein product - - - - OMIM - 610214 - - - SwissProt - Q9BZQ6 - - - Ensembl - ENSG00000116406 - - - HGNC - 16787 - - - - - 1q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 695807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695807 - Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome - - Disease - - - Disorder - - - - 33782605[PMID] - - spleen associated tyrosine kinase - SYK - - - - gene with protein product - - - - IUPHAR - 2230 - - - Ensembl - ENSG00000165025 - - - OMIM - 600085 - - - SwissProt - P43405 - - - HGNC - 11491 - - - - - 9q22.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 696063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696063 - PLIN4-related distal myopathy - - Disease - - - Disorder - - - - 35499779[PMID] - - perilipin 4 - PLIN4 - - S3-12 - - - gene with protein product - - - - OMIM - 613247 - - - SwissProt - Q96Q06 - - - Ensembl - ENSG00000167676 - - - HGNC - 29393 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 695147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695147 - Sickle cell-beta plus-thalassemia - - Etiological subtype - - - Subtype of disorder - - - - 34567471[PMID] - - hemoglobin subunit beta - HBB - - CD113t-C - beta-globin - - - gene with protein product - - - - ClinVar - HBB - - - HGNC - 4827 - - - OMIM - 141900 - - - Reactome - P68871 - - - SwissProt - P68871 - - - Ensembl - ENSG00000244734 - - - Genatlas - HBB - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 695183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695183 - Late-onset combined immunodeficiency due to ICOS deficiency - - Disease - - - Disorder - - - - 12577056[PMID] - - inducible T cell costimulator - ICOS - - AILIM - CD278 - activation-inducible lymphocyte immunomediatory molecule - - - gene with protein product - - - - ClinVar - ICOS - - - Ensembl - ENSG00000163600 - - - Genatlas - ICOS - - - HGNC - 5351 - - - OMIM - 604558 - - - Reactome - Q9Y6W8 - - - SwissProt - Q9Y6W8 - - - IUPHAR - 2939 - - - - - 2q33.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 695172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695172 - Combined immunodeficiency due to dimerization defective IKAROS mutation - - Disease - - - Disorder - - - - 32845957[PMID] - - IKAROS family zinc finger 1 - IKZF1 - - Hs.54452 - IKAROS - LyF-1 - PPP1R92 - hIk-1 - protein phosphatase 1, regulatory subunit 92 - - - gene with protein product - - - - OMIM - 603023 - - - SwissProt - Q13422 - - - Ensembl - ENSG00000185811 - - - Genatlas - IKZF1 - - - HGNC - 13176 - - - Reactome - Q13422 - - - ClinVar - IKZF1 - - - - - 7p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 695191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695191 - Late-onset combined immunodeficiency due to ICOSL deficiency - - Disease - - - Disorder - - - - 30498080[PMID] - - inducible T cell costimulator ligand - ICOSLG - - B7 homolog 2 - B7 homologue 2 - KIAA0653 - B7H2 - B7RP-1 - GL50 - B7-related protein 1 - B7-H2 - B7RP1 - B7h - ICOS-L - CD275 - - - gene with protein product - - - - SwissProt - O75144 - - - Ensembl - ENSG00000160223 - - - OMIM - 605717 - - - HGNC - 17087 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 695110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695110 - MAN2B2-CDG - - Disease - - - Disorder - - - - 35637269[PMID]_31775018[PMID] - - mannosidase alpha class 2B member 2 - MAN2B2 - - Epididymis-specific alpha-mannosidase - KIAA0935 - core-specific lysosomal alpha-1,6-Mannosidase - EpMAN - - - gene with protein product - - - - OMIM - 618899 - - - SwissProt - Q9Y2E5 - - - Ensembl - ENSG00000013288 - - - HGNC - 29623 - - - - - 4p16.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 695140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695140 - Sickle cell-beta zero-thalassemia - - Etiological subtype - - - Subtype of disorder - - - - 21250876[PMID] - - hemoglobin subunit beta - HBB - - CD113t-C - beta-globin - - - gene with protein product - - - - ClinVar - HBB - - - HGNC - 4827 - - - OMIM - 141900 - - - Reactome - P68871 - - - SwissProt - P68871 - - - Ensembl - ENSG00000244734 - - - Genatlas - HBB - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 104077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104077 - Myopathic intestinal pseudoobstruction - - Etiological subtype - - - Subtype of disorder - - - - 24591628[PMID] - - actin gamma 2, smooth muscle - ACTG2 - - ACTSG - - - gene with protein product - - - - Ensembl - ENSG00000163017 - - - Genatlas - ACTG2 - - - HGNC - 145 - - - OMIM - 102545 - - - Reactome - P63267 - - - SwissProt - P63267 - - - ClinVar - ACTG2 - - - - - 2p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 697067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697067 - Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome - - Malformation syndrome - - - Disorder - - - - 34022130[PMID] - - BCAS3 microtubule associated cell migration factor - BCAS3 - - PHAF2 - Rudhira - phagophore assembly factor 2 - FLJ20128 - - - gene with protein product - - - - Ensembl - ENSG00000141376 - - - SwissProt - Q9H6U6 - - - OMIM - 607470 - - - HGNC - 14347 - - - - - 17q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 696942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696942 - Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency - - Disease - - - Disorder - - - - 30521495[PMID] - - Rho guanine nucleotide exchange factor 1 - ARHGEF1 - - SUB1.5 - LBCL2 - P115-RHOGEF - - - gene with protein product - - - - Ensembl - ENSG00000076928 - - - HGNC - 681 - - - OMIM - 601855 - - - SwissProt - Q92888 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 696945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696945 - X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency - - Disease - - - Disorder - - - - 29636373[PMID] - - SH3 domain containing kinase binding protein 1 - SH3KBP1 - - - - gene with protein product - - - - HGNC - 13867 - - - OMIM - 300374 - - - - - Xp22.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 696931 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696931 - Common variable immunodeficiency phenotype due to TWEAK deficiency - - Disease - - - Disorder - - - - 23493554[PMID] - - TNF superfamily member 12 - TNFSF12 - - APO3L - DR3LG - TWEAK - TNF12 - - - gene with protein product - - - - ClinVar - TNFSF12 - - - Ensembl - ENSG00000239697 - - - Genatlas - TNFSF12 - - - HGNC - 11927 - - - OMIM - 602695 - - - Reactome - O43508 - - - SwissProt - O43508 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 696925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696925 - Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency - - Disease - - - Disorder - - - - 19666484[PMID] - - TNF receptor superfamily member 13C - TNFRSF13C - - BAFFR - CD268 - - - gene with protein product - - - - IUPHAR - 1886 - - - Ensembl - ENSG00000159958 - - - Genatlas - TNFRSF13C - - - HGNC - 17755 - - - OMIM - 606269 - - - Reactome - Q96RJ3 - - - SwissProt - Q96RJ3 - - - ClinVar - TNFRSF13C - - - - - 22q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 696907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696907 - Common variable immunodeficiency phenotype due to homozygous TACI deficiency - - Disease - - - Disorder - - - - 16007086[PMID] - - TNF receptor superfamily member 13B - TNFRSF13B - - CD267 - IGAD2 - TACI - - - gene with protein product - - - - IUPHAR - 1885 - - - ClinVar - TNFRSF13B - - - Reactome - O14836 - - - SwissProt - O14836 - - - Ensembl - ENSG00000240505 - - - Genatlas - TNFRSF13B - - - HGNC - 18153 - - - OMIM - 604907 - - - - - 17p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 103918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103918 - Tropical pancreatitis - - Disease - - - Disorder - - - - 12360463[PMID]_12011155[PMID] - - serine peptidase inhibitor Kazal type 1 - SPINK1 - - PCTT - PSTI - Spink3 - TATI - - - gene with protein product - - - - Ensembl - ENSG00000164266 - - - Genatlas - SPINK1 - - - HGNC - 11244 - - - OMIM - 167790 - - - SwissProt - P00995 - - - ClinVar - SPINK1 - - - - - 5q32 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 22580415[PMID]_19404200[PMID] - - chymotrypsin C - CTRC - - CLCR - ELA4 - caldecrin - elastase 4 - chymotrypsinogen C - - - gene with protein product - - - - Ensembl - ENSG00000162438 - - - Genatlas - CTRC - - - HGNC - 2523 - - - IUPHAR - 2341 - - - OMIM - 601405 - - - Reactome - Q99895 - - - SwissProt - Q99895 - - - ClinVar - CTRC - - - - - 1p36.21 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 696904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696904 - Common variable immunodeficiency phenotype due to IRF2BP2 deficiency - - Disease - - - Disorder - - - - 27016798[PMID] - - interferon regulatory factor 2 binding protein 2 - IRF2BP2 - - LRIR2 - IRF-2BP2 - - - gene with protein product - - - - HGNC - 21729 - - - Ensembl - ENSG00000168264 - - - SwissProt - Q7Z5L9 - - - Reactome - Q7Z5L9 - - - OMIM - 615332 - - - - - 1q42.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 696894 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696894 - Common variable immunodeficiency phenotype due to CD21 deficiency - - Disease - - - Disorder - - - - 38817346[PMID]_22035880[PMID] - - complement C3d receptor 2 - CR2 - - C3DR - CD21 - Epstein-Barr virus receptor - - - gene with protein product - - - - Ensembl - ENSG00000117322 - - - Genatlas - CR2 - - - HGNC - 2336 - - - OMIM - 120650 - - - SwissProt - P20023 - - - ClinVar - CR2 - - - Reactome - P20023 - - - - - 1q32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 103908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103908 - Congenital sodium diarrhea - - Disease - - - Disorder - - - - 25994218[PMID] - - guanylate cyclase 2C - GUCY2C - - HSER - Guanylyl cyclase C - GCC - GC-C - STA receptor - STAR - heat stable enterotoxin receptor - - - gene with protein product - - - - Ensembl - ENSG00000070019 - - - Genatlas - GUCY2C - - - HGNC - 4688 - - - IUPHAR - 1750 - - - OMIM - 601330 - - - SwissProt - P25092 - - - ClinVar - GUCY2C - - - Reactome - P25092 - - - - - 12p12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26358773[PMID] - - solute carrier family 9 member A3 - SLC9A3 - - NHE-3 - Sodium/hydrogen exchanger 3 - - - gene with protein product - - - - Ensembl - ENSG00000066230 - - - Genatlas - SLC9A3 - - - HGNC - 11073 - - - IUPHAR - 950 - - - OMIM - 182307 - - - Reactome - P48764 - - - SwissProt - P48764 - - - ClinVar - SLC9A3 - - - - - 5p15.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 696881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696881 - Common variable immunodeficiency phenotype due to CD19/CD81 deficiency - - Disease - - - Disorder - - - - 21330302[PMID] - - CD19 molecule - CD19 - - - - gene with protein product - - - - IUPHAR - 2764 - - - Ensembl - ENSG00000177455 - - - Genatlas - CD19 - - - HGNC - 1633 - - - OMIM - 107265 - - - Reactome - P15391 - - - SwissProt - P15391 - - - ClinVar - CD19 - - - - - 16p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21970952[PMID] - - CD81 molecule - CD81 - - S5.7 - TAPA-1 - TSPAN28 - Tetraspanin-28 - - - gene with protein product - - - - ClinVar - CD81 - - - Ensembl - ENSG00000110651 - - - Genatlas - CD81 - - - HGNC - 1701 - - - OMIM - 186845 - - - Reactome - P60033 - - - SwissProt - P60033 - - - - - 11p15.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 103909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103909 - Trehalase deficiency - - Disease - - - Disorder - - - - - - trehalase - TREH - - MGC129621 - TRE - TREA - alpha,alpha-trehalase - alpha,alpha-trehalose glucohydrolase - - - gene with protein product - - - - ClinVar - TREH - - - Ensembl - ENSG00000118094 - - - Genatlas - TREH - - - HGNC - 12266 - - - OMIM - 275360 - - - Reactome - O43280 - - - SwissProt - O43280 - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Not yet assessed - - - - - - 696874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696874 - NFKB1-related immune dysregulation - - Disease - - - Disorder - - - - 36356849[PMID] - - nuclear factor kappa B subunit 1 - NFKB1 - - KBF1 - NF-kB1 - NF-kappaB - NFKB-p50 - NFkappaB - p105 - p50 - Nuclear factor NF-kappa-B p105 subunit - - - gene with protein product - - - - Genatlas - NFKB1 - - - HGNC - 7794 - - - OMIM - 164011 - - - Reactome - P19838 - - - SwissProt - P19838 - - - Ensembl - ENSG00000109320 - - - ClinVar - NFKB1 - - - IUPHAR - 3281 - - - - - 4q24 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 102724 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102724 - Acute myeloid leukemia with t(8;21)(q22;q22) translocation - - Disease - - - Disorder - - - - 19357394[PMID] - - RUNX family transcription factor 1 - RUNX1 - - AMLCR1 - PEBP2A2 - aml1 oncogene - - - gene with protein product - - - - ClinVar - RUNX1 - - - Ensembl - ENSG00000159216 - - - Genatlas - RUNX1 - - - HGNC - 10471 - - - OMIM - 151385 - - - Reactome - Q01196 - - - SwissProt - Q01196 - - - - - 21q22.12 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 23783394[PMID] - - fms related receptor tyrosine kinase 3 - FLT3 - - CD135 - FLK2 - STK1 - - - gene with protein product - - - - Ensembl - ENSG00000122025 - - - Genatlas - FLT3 - - - HGNC - 3765 - - - IUPHAR - 1807 - - - OMIM - 136351 - - - Reactome - P36888 - - - ClinVar - FLT3 - - - SwissProt - P36888 - - - - - 13q12.2 - 1 - - - - - Biomarker tested in - - - Assessed - - - - - - CCAAT enhancer binding protein alpha - CEBPA - - C/EBP-alpha - - - gene with protein product - - - - Genatlas - CEBPA - - - HGNC - 1833 - - - OMIM - 116897 - - - Reactome - P49715 - - - SwissProt - P49715 - - - Ensembl - ENSG00000245848 - - - ClinVar - CEBPA - - - - - 19q13.11 - 1 - - - - - Biomarker tested in - - - Assessed - - - - 19357394[PMID] - - RUNX1 partner transcriptional co-repressor 1 - RUNX1T1 - - CDR - ETO - MTG8 - ZMYND2 - - - gene with protein product - - - - Reactome - Q06455 - - - ClinVar - RUNX1T1 - - - SwissProt - Q06455 - - - Ensembl - ENSG00000079102 - - - Genatlas - RUNX1T1 - - - HGNC - 1535 - - - OMIM - 133435 - - - - - 8q21.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 23783394[PMID]_24226631[PMID] - - KIT proto-oncogene, receptor tyrosine kinase - KIT - - C-Kit - CD117 - SCFR - mast/stem cell growth factor receptor Kit - - - gene with protein product - - - - ClinVar - KIT - - - Ensembl - ENSG00000157404 - - - Genatlas - KIT - - - HGNC - 6342 - - - IUPHAR - 1805 - - - OMIM - 164920 - - - Reactome - P10721 - - - SwissProt - P10721 - - - - - 4q12 - 1 - - - - - Biomarker tested in - - - Assessed - - - - - - 697764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697764 - Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation - - Etiological subtype - - - Subtype of disorder - - - - 36224108[PMID] - - CCR4-NOT transcription complex subunit 2 - CNOT2 - - CDC36 - NOT2H - CC chemokine receptor 4-negative regulator of transcription 2 - - - gene with protein product - - - - HGNC - 7878 - - - Ensembl - ENSG00000111596 - - - SwissProt - Q9NZN8 - - - Reactome - Q9NZN8 - - - OMIM - 604909 - - - - - 12q15 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 697414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697414 - Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation - - Disease - - - Disorder - - - - 35087518[PMID]_36433803[PMID] - - IKAROS family zinc finger 1 - IKZF1 - - Hs.54452 - IKAROS - LyF-1 - PPP1R92 - hIk-1 - protein phosphatase 1, regulatory subunit 92 - - - gene with protein product - - - - OMIM - 603023 - - - SwissProt - Q13422 - - - Ensembl - ENSG00000185811 - - - Genatlas - IKZF1 - - - HGNC - 13176 - - - Reactome - Q13422 - - - ClinVar - IKZF1 - - - - - 7p12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 697734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697734 - ST3GAL3-CDG - - Disease - - - Disorder - - - - 37067065[PMID] - - ST3 beta-galactoside alpha-2,3-sialyltransferase 3 - ST3GAL3 - - ST3Gal III - N-acetyllactosaminide alpha-2,3-sialyltransferase - - - gene with protein product - - - - ClinVar - ST3GAL3 - - - Ensembl - ENSG00000126091 - - - Genatlas - ST3GAL3 - - - HGNC - 10866 - - - OMIM - 606494 - - - Reactome - Q11203 - - - SwissProt - Q11203 - - - - - 1p34.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 697417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697417 - Common variable immunodeficiency phenotype due to SEC61A1 deficiency - - Disease - - - Disorder - - - - 28782633[PMID] - - SEC61 translocon subunit alpha 1 - SEC61A1 - - - - gene with protein product - - - - HGNC - 18276 - - - OMIM - 609213 - - - - - 3q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 697394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697394 - Combined immunodeficiency due to c-REL deficiency - - Disease - - - Disorder - - - - 31103457[PMID] - - REL proto-oncogene, NF-kB subunit - REL - - - - gene with protein product - - - - HGNC - 9954 - - - - - 2p16.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 697403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697403 - Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency - - Disease - - - Disorder - - - - 34533979[PMID]_39812688[PMID] - - component of inhibitor of nuclear factor kappa B kinase complex - CHUK - - IkBKA - IKK-alpha - IKK1 - IKKA - NFKBIKA - I-kappa-B kinase - inhibitor of nuclear factor kappa-B kinase subunit alpha - - - gene with protein product - - - - HGNC - 1974 - - - OMIM - 600664 - - - Genatlas - CHUK - - - SwissProt - O15111 - - - Reactome - O15111 - - - Ensembl - ENSG00000213341 - - - IUPHAR - 1989 - - - ClinVar - CHUK - - - - - 10q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 697389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697389 - Combined immunodeficiency due to HELIOS deficiency - - Disease - - - Disorder - - - - 34826260[PMID] - - IKAROS family zinc finger 2 - IKZF2 - - Helios - - - gene with protein product - - - - HGNC - 13177 - - - OMIM - 606234 - - - SwissProt - Q9UKS7 - - - Ensembl - ENSG00000030419 - - - - - 2q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 697160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697160 - Infantile epileptic spasms syndrome - - Disease - - - Disorder - - - - 23935176[PMID] - - sodium voltage-gated channel alpha subunit 2 - SCN2A - - HBSCI - HBSCII - Nav1.2 - - - gene with protein product - - - - ClinVar - SCN2A - - - Ensembl - ENSG00000136531 - - - Genatlas - SCN2A - - - HGNC - 10588 - - - IUPHAR - 579 - - - OMIM - 182390 - - - Reactome - Q99250 - - - SwissProt - Q99250 - - - - - 2q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18564362[PMID]_22196487[PMID]_22787626[PMID] - - cyclin dependent kinase like 5 - CDKL5 - - CFAP247 - EIEE2 - - - gene with protein product - - - - Reactome - O76039 - - - SwissProt - O76039 - - - Ensembl - ENSG00000008086 - - - Genatlas - CDKL5 - - - HGNC - 11411 - - - IUPHAR - 1986 - - - OMIM - 300203 - - - ClinVar - CDKL5 - - - - - Xp22.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20506206[PMID]_22787626[PMID] - - aristaless related homeobox - ARX - - CT121 - EIEE1 - ISSX - cancer/testis antigen 121 - - - gene with protein product - - - - ClinVar - ARX - - - SwissProt - Q96QS3 - - - Ensembl - ENSG00000004848 - - - Genatlas - ARX - - - HGNC - 18060 - - - OMIM - 300382 - - - - - Xp21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24357517[PMID] - - phosphatidylinositol glycan anchor biosynthesis class A - PIGA - - GPI3 (SPT14) homolog (S. cerevisiae) - PIG-A - Phosphatidylinositol N-acetylglucosaminyltransferase subunit A - GPI3 - paroxysmal nocturnal hemoglobinuria - - - gene with protein product - - - - Ensembl - ENSG00000165195 - - - Genatlas - PIGA - - - HGNC - 8957 - - - OMIM - 311770 - - - Reactome - P37287 - - - SwissProt - P37287 - - - ClinVar - PIGA - - - - - Xp22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22196487[PMID]_18065176[PMID] - - spectrin alpha, non-erythrocytic 1 - SPTAN1 - - alpha-fodrin - - - gene with protein product - - - - Ensembl - ENSG00000197694 - - - Genatlas - SPTAN1 - - - HGNC - 11273 - - - OMIM - 182810 - - - Reactome - Q13813 - - - SwissProt - Q13813 - - - ClinVar - SPTAN1 - - - - - 9q34.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20833646[PMID]_22196487[PMID] - - phospholipase C beta 1 - PLCB1 - - PLC-I - PLC154 - phosphoinositide phospholipase C - KIAA0581 - - - gene with protein product - - - - IUPHAR - 1403 - - - Ensembl - ENSG00000182621 - - - Genatlas - PLCB1 - - - HGNC - 15917 - - - OMIM - 607120 - - - Reactome - Q9NQ66 - - - SwissProt - Q9NQ66 - - - ClinVar - PLCB1 - - - - - 20p12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24272827[PMID] - - glutamate ionotropic receptor NMDA type subunit 2B - GRIN2B - - GluN2B - NR2B - - - gene with protein product - - - - Ensembl - ENSG00000273079 - - - Genatlas - GRIN2B - - - HGNC - 4586 - - - IUPHAR - 457 - - - OMIM - 138252 - - - Reactome - Q13224 - - - SwissProt - Q13224 - - - ClinVar - GRIN2B - - - - - 12p13.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 27030146[PMID] - - WD repeat domain 45 - WDR45 - - JM5 - NBIA5 - WIPI4 - neurodegeneration with brain iron accumulation 5 - - - gene with protein product - - - - ClinVar - WDR45 - - - Genatlas - WDR45 - - - HGNC - 28912 - - - OMIM - 300526 - - - Reactome - Q9Y484 - - - SwissProt - Q9Y484 - - - Ensembl - ENSG00000196998 - - - - - Xp11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29100083[PMID] - - neurotrophic receptor tyrosine kinase 2 - NTRK2 - - TRKB - BDNF/NT-3 growth factors receptor - - - gene with protein product - - - - Genatlas - NTRK2 - - - HGNC - 8032 - - - IUPHAR - 1818 - - - OMIM - 600456 - - - Reactome - Q16620 - - - SwissProt - Q16620 - - - Ensembl - ENSG00000148053 - - - ClinVar - NTRK2 - - - - - 9q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25839329[PMID] - - salt inducible kinase 1 - SIK1 - - msk - myocardial SNF1-like kinase - - - gene with protein product - - - - Ensembl - ENSG00000142178 - - - Genatlas - SIK1 - - - HGNC - 11142 - - - IUPHAR - 2197 - - - OMIM - 605705 - - - Reactome - P57059 - - - SwissProt - P57059 - - - ClinVar - SIK1 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26486472[PMID] - - GTP binding elongation factor GUF1 - GUF1 - - FLJ13220 - - - gene with protein product - - - - Ensembl - ENSG00000151806 - - - HGNC - 25799 - - - OMIM - 617064 - - - Genatlas - GUF1 - - - SwissProt - Q8N442 - - - ClinVar - GUF1 - - - - - 4p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 29394991[PMID] - - canopy FGF signaling regulator 3 - CNPY3 - - CAG4A - - - gene with protein product - - - - HGNC - 11968 - - - Ensembl - ENSG00000137161 - - - SwissProt - Q9BT09 - - - OMIM - 610774 - - - Genatlas - CNPY3 - - - Reactome - Q9BT09 - - - ClinVar - CNPY3 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30256902[PMID] - - phosphatase and actin regulator 1 - PHACTR1 - - KIAA1733 - dJ257A7.2 - - - gene with protein product - - - - HGNC - 20990 - - - Ensembl - ENSG00000112137 - - - SwissProt - Q9C0D0 - - - OMIM - 608723 - - - - - 6p24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 699593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699593 - Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency - - Clinical subtype - - - Subtype of disorder - - - - 34155405[PMID] - - IKAROS family zinc finger 3 - IKZF3 - - Aiolos - - - gene with protein product - - - - Ensembl - ENSG00000161405 - - - Genatlas - IKZF3 - - - HGNC - 13178 - - - OMIM - 606221 - - - SwissProt - Q9UKT9 - - - Reactome - Q9UKT9 - - - ClinVar - IKZF3 - - - - - 17q12-q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 699605 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699605 - NEMO deleted exon 5 autoinflammatory syndrome - - Disease - - - Disorder - - - - 31874111[PMID]_35289316[PMID] - - inhibitor of nuclear factor kappa B kinase regulatory subunit gamma - IKBKG - - FIP-3 - FIP3 - Fip3p - IKK-gamma - NEMO - ZC2HC9 - IkB kinase-associated protein 1 - IkB kinase subunit gamma - NF-kappa-B essential modulator - IKKG - IKKAP1 - I-kappa-B kinase subunit gamma - 14.7K (adenovirus E3 protein) interacting protein 3 - - - gene with protein product - - - - ClinVar - IKBKG - - - Ensembl - ENSG00000269335 - - - Genatlas - IKBKG - - - HGNC - 5961 - - - OMIM - 300248 - - - Reactome - Q9Y6K9 - - - SwissProt - Q9Y6K9 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 699599 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699599 - ICHAD syndrome - - Disease - - - Disorder - - - - 37316189[PMID] - - IKAROS family zinc finger 2 - IKZF2 - - Helios - - - gene with protein product - - - - HGNC - 13177 - - - OMIM - 606234 - - - SwissProt - Q9UKS7 - - - Ensembl - ENSG00000030419 - - - - - 2q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 699618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699618 - Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency - - Disease - - - Disorder - - - - 32163377[PMID] - - interferon gamma - IFNG - - - - gene with protein product - - - - ClinVar - IFNG - - - Ensembl - ENSG00000111537 - - - Genatlas - IFNG - - - HGNC - 5438 - - - OMIM - 147570 - - - Reactome - P01579 - - - SwissProt - P01579 - - - - - 12q15 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 699615 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699615 - Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency - - Disease - - - Disorder - - - - 36736301[PMID] - - interferon regulatory factor 1 - IRF1 - - interferon regulatory factor-1 - MAR - - - gene with protein product - - - - Ensembl - ENSG00000125347 - - - OMIM - 147575 - - - SwissProt - P10914 - - - HGNC - 6116 - - - - - 5q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 698085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698085 - Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome - - Malformation syndrome - - - Disorder - - - - 36044892[PMID] - - transmembrane protein 147 - TMEM147 - - - - gene with protein product - - - - HGNC - 30414 - - - OMIM - 613585 - - - - - 19q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 698090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698090 - Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - 39837771[PMID]_27939639[PMID]_27939640[PMID] - - bromodomain and PHD finger containing 1 - BRPF1 - - BR140 - bromodomain-containing protein, 140kD - peregrin - - - gene with protein product - - - - HGNC - 14255 - - - Ensembl - ENSG00000156983 - - - OMIM - 602410 - - - IUPHAR - 2730 - - - SwissProt - P55201 - - - - - 3p25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 699822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699822 - Sickle cell S-Lepore disease - - Clinical subtype - - - Subtype of disorder - - - - 34334973[PMID]_20022270[PMID] - - hemoglobin subunit beta - HBB - - CD113t-C - beta-globin - - - gene with protein product - - - - ClinVar - HBB - - - HGNC - 4827 - - - OMIM - 141900 - - - Reactome - P68871 - - - SwissProt - P68871 - - - Ensembl - ENSG00000244734 - - - Genatlas - HBB - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34334973[PMID]_20022270[PMID] - - hemoglobin subunit delta - HBD - - HBK - - - gene with protein product - - - - Ensembl - ENSG00000223609 - - - Genatlas - HBD - - - HGNC - 4829 - - - OMIM - 142000 - - - Reactome - P02042 - - - SwissProt - P02042 - - - ClinVar - HBD - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 699850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699850 - 2p25.3 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - 37188826[PMID] - - myelin transcription factor 1 like - MYT1L - - NZF1 - ZC2H2C2 - KIAA1106 - neural zinc finger transcription factor 1 - ZC2HC4B - - - gene with protein product - - - - Genatlas - MYT1L - - - OMIM - 613084 - - - HGNC - 7623 - - - ClinVar - MYT1L - - - Ensembl - ENSG00000186487 - - - SwissProt - Q9UL68 - - - - - 2p25.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 37188826[PMID] - - peroxidasin - PXDN - - D2S448 - D2S448E - KIAA0230 - MG50 - PRG2 - PXN - - - gene with protein product - - - - ClinVar - PXDN - - - Ensembl - ENSG00000130508 - - - Genatlas - PXDN - - - HGNC - 14966 - - - OMIM - 605158 - - - SwissProt - Q92626 - - - Reactome - Q92626 - - - - - 2p25.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 700090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700090 - Sickle cell S-O Arab disease - - Clinical subtype - - - Subtype of disorder - - - - 32595482[PMID] - - hemoglobin subunit beta - HBB - - CD113t-C - beta-globin - - - gene with protein product - - - - ClinVar - HBB - - - HGNC - 4827 - - - OMIM - 141900 - - - Reactome - P68871 - - - SwissProt - P68871 - - - Ensembl - ENSG00000244734 - - - Genatlas - HBB - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 700111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700111 - Homozygous hemoglobin O Arab disease - - Disease - - - Disorder - - - - 23192960[PMID]_37554704[PMID] - - hemoglobin subunit beta - HBB - - CD113t-C - beta-globin - - - gene with protein product - - - - ClinVar - HBB - - - HGNC - 4827 - - - OMIM - 141900 - - - Reactome - P68871 - - - SwissProt - P68871 - - - Ensembl - ENSG00000244734 - - - Genatlas - HBB - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 700107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700107 - Sickle cell S-other specified hemoglobin variant - - Clinical subtype - - - Subtype of disorder - - - - 23388674[PMID]_34113458[PMID] - - hemoglobin subunit beta - HBB - - CD113t-C - beta-globin - - - gene with protein product - - - - ClinVar - HBB - - - HGNC - 4827 - - - OMIM - 141900 - - - Reactome - P68871 - - - SwissProt - P68871 - - - Ensembl - ENSG00000244734 - - - Genatlas - HBB - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 700124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700124 - Autosomal recessive hereditary chronic pancreatitis - - Disease - - - Disorder - - - - 17274009[PMID] - - serine peptidase inhibitor Kazal type 1 - SPINK1 - - PCTT - PSTI - Spink3 - TATI - - - gene with protein product - - - - Ensembl - ENSG00000164266 - - - Genatlas - SPINK1 - - - HGNC - 11244 - - - OMIM - 167790 - - - SwissProt - P00995 - - - ClinVar - SPINK1 - - - - - 5q32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 22572128[PMID] - - CF transmembrane conductance regulator - CFTR - - MRP7 - TNR-CFTR - dJ760C5.1 - ABC35 - ATP-binding cassette sub-family C, member 7 - CFTR/MRP - - - gene with protein product - - - - Ensembl - ENSG00000001626 - - - Genatlas - CFTR - - - HGNC - 1884 - - - IUPHAR - 707 - - - OMIM - 602421 - - - Reactome - P13569 - - - SwissProt - P13569 - - - ClinVar - CFTR - - - - - 7q31.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 699708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699708 - CLN14 disease - - Disease - - - Disorder - - - - 39350080[PMID] - - potassium channel tetramerization domain containing 7 - KCTD7 - - CLN14 - EPM3 - FLJ32069 - - - gene with protein product - - - - ClinVar - KCTD7 - - - Reactome - Q96MP8 - - - Ensembl - ENSG00000243335 - - - Genatlas - KCTD7 - - - HGNC - 21957 - - - OMIM - 611725 - - - SwissProt - Q96MP8 - - - - - 7q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 699718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699718 - Infantile CLN1 disease - - Clinical subtype - - - Subtype of disorder - - - - 32412666[PMID]_34733232[PMID]_7637805[PMID] - - palmitoyl-protein thioesterase 1 - PPT1 - - CLN1 - INCL - ceroid-lipofuscinosis, neuronal 1, infantile - - - gene with protein product - - - - ClinVar - PPT1 - - - IUPHAR - 3199 - - - Ensembl - ENSG00000131238 - - - Genatlas - PPT1 - - - HGNC - 9325 - - - OMIM - 600722 - - - Reactome - P50897 - - - SwissProt - P50897 - - - - - 1p34.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 699734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699734 - Late infantile CLN1 disease - - Clinical subtype - - - Subtype of disorder - - - - 32412666[PMID]_34733232[PMID]_7637805[PMID] - - palmitoyl-protein thioesterase 1 - PPT1 - - CLN1 - INCL - ceroid-lipofuscinosis, neuronal 1, infantile - - - gene with protein product - - - - ClinVar - PPT1 - - - IUPHAR - 3199 - - - Ensembl - ENSG00000131238 - - - Genatlas - PPT1 - - - HGNC - 9325 - - - OMIM - 600722 - - - Reactome - P50897 - - - SwissProt - P50897 - - - - - 1p34.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 699739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699739 - Juvenile CLN1 disease - - Clinical subtype - - - Subtype of disorder - - - - 32412666[PMID]_34733232[PMID]_7637805[PMID] - - palmitoyl-protein thioesterase 1 - PPT1 - - CLN1 - INCL - ceroid-lipofuscinosis, neuronal 1, infantile - - - gene with protein product - - - - ClinVar - PPT1 - - - IUPHAR - 3199 - - - Ensembl - ENSG00000131238 - - - Genatlas - PPT1 - - - HGNC - 9325 - - - OMIM - 600722 - - - Reactome - P50897 - - - SwissProt - P50897 - - - - - 1p34.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 699745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699745 - Adult CLN1 disease - - Clinical subtype - - - Subtype of disorder - - - - 32412666[PMID]_34733232[PMID]_7637805[PMID] - - palmitoyl-protein thioesterase 1 - PPT1 - - CLN1 - INCL - ceroid-lipofuscinosis, neuronal 1, infantile - - - gene with protein product - - - - ClinVar - PPT1 - - - IUPHAR - 3199 - - - Ensembl - ENSG00000131238 - - - Genatlas - PPT1 - - - HGNC - 9325 - - - OMIM - 600722 - - - Reactome - P50897 - - - SwissProt - P50897 - - - - - 1p34.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 699751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699751 - Infantile CLN2 disease - - Clinical subtype - - - Subtype of disorder - - - - 32412666[PMID]_34733232[PMID] - - tripeptidyl peptidase 1 - TPP1 - - TPP I - LPIC - lysosomal pepstatin-insensitive carboxypeptidase - TPP-1 - - - gene with protein product - - - - SwissProt - O14773 - - - Ensembl - ENSG00000166340 - - - Genatlas - TPP1 - - - HGNC - 2073 - - - OMIM - 607998 - - - Reactome - O14773 - - - ClinVar - TPP1 - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 699761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699761 - Late infantile CLN2 disease - - Clinical subtype - - - Subtype of disorder - - - - 32412666[PMID]_34733232[PMID] - - tripeptidyl peptidase 1 - TPP1 - - TPP I - LPIC - lysosomal pepstatin-insensitive carboxypeptidase - TPP-1 - - - gene with protein product - - - - SwissProt - O14773 - - - Ensembl - ENSG00000166340 - - - Genatlas - TPP1 - - - HGNC - 2073 - - - OMIM - 607998 - - - Reactome - O14773 - - - ClinVar - TPP1 - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 699769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699769 - Juvenile CLN2 disease - - Clinical subtype - - - Subtype of disorder - - - - 32412666[PMID]_34733232[PMID] - - tripeptidyl peptidase 1 - TPP1 - - TPP I - LPIC - lysosomal pepstatin-insensitive carboxypeptidase - TPP-1 - - - gene with protein product - - - - SwissProt - O14773 - - - Ensembl - ENSG00000166340 - - - Genatlas - TPP1 - - - HGNC - 2073 - - - OMIM - 607998 - - - Reactome - O14773 - - - ClinVar - TPP1 - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 699780 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699780 - Juvenile CLN3 disease - - Clinical subtype - - - Subtype of disorder - - - - 15965709[PMID] - - CLN3 lysosomal/endosomal transmembrane protein, battenin - CLN3 - - SLC29B1 - JNCL - juvenile neuronal ceroid lipofuscinosis - BTN1 - - - gene with protein product - - - - ClinVar - CLN3 - - - Ensembl - ENSG00000188603 - - - Genatlas - CLN3 - - - HGNC - 2074 - - - OMIM - 607042 - - - SwissProt - Q13286 - - - - - 16p12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 699796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699796 - Protracted juvenile CLN3 disease - - Clinical subtype - - - Subtype of disorder - - - - 15965709[PMID] - - CLN3 lysosomal/endosomal transmembrane protein, battenin - CLN3 - - SLC29B1 - JNCL - juvenile neuronal ceroid lipofuscinosis - BTN1 - - - gene with protein product - - - - ClinVar - CLN3 - - - Ensembl - ENSG00000188603 - - - Genatlas - CLN3 - - - HGNC - 2074 - - - OMIM - 607042 - - - SwissProt - Q13286 - - - - - 16p12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 699802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699802 - Late infantile CLN5 disease - - Clinical subtype - - - Subtype of disorder - - - - 2412666[PMID]_34733232[PMID]_34684815[PMID] - - CLN5 intracellular trafficking protein - CLN5 - - - - gene with protein product - - - - ClinVar - CLN5 - - - Ensembl - ENSG00000102805 - - - Genatlas - CLN5 - - - HGNC - 2076 - - - OMIM - 608102 - - - SwissProt - O75503 - - - - - 13q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 699807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699807 - Juvenile CLN5 disease - - Clinical subtype - - - Subtype of disorder - - - - 2412666[PMID]_34733232[PMID]_34684815[PMID] - - CLN5 intracellular trafficking protein - CLN5 - - - - gene with protein product - - - - ClinVar - CLN5 - - - Ensembl - ENSG00000102805 - - - Genatlas - CLN5 - - - HGNC - 2076 - - - OMIM - 608102 - - - SwissProt - O75503 - - - - - 13q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 699812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699812 - Adult CLN5 disease - - Clinical subtype - - - Subtype of disorder - - - - 2412666[PMID]_34733232[PMID]_34684815[PMID] - - CLN5 intracellular trafficking protein - CLN5 - - - - gene with protein product - - - - ClinVar - CLN5 - - - Ensembl - ENSG00000102805 - - - Genatlas - CLN5 - - - HGNC - 2076 - - - OMIM - 608102 - - - SwissProt - O75503 - - - - - 13q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 700508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700508 - Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy - - Disease - - - Disorder - - - - 32367058[PMID]_36943151[PMID] - - sorbitol dehydrogenase - SORD - - - - gene with protein product - - - - HGNC - 11184 - - - Ensembl - ENSG00000140263 - - - OMIM - 182500 - - - SwissProt - Q00796 - - - - - 15q21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 700497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700497 - Juvenile CLN10 disease - - Clinical subtype - - - Subtype of disorder - - - - 32412666[PMID]_34733232[PMID]_34684815[PMID] - - cathepsin D - CTSD - - CLN10 - ceroid-lipofuscinosis, neuronal 10 - - - gene with protein product - - - - ClinVar - CTSD - - - Ensembl - ENSG00000117984 - - - Genatlas - CTSD - - - HGNC - 2529 - - - IUPHAR - 2345 - - - OMIM - 116840 - - - Reactome - P07339 - - - SwissProt - P07339 - - - - - 11p15.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 700492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700492 - Late infantile CLN10 disease - - Clinical subtype - - - Subtype of disorder - - - - 32412666[PMID]_34733232[PMID]_34684815[PMID] - - cathepsin D - CTSD - - CLN10 - ceroid-lipofuscinosis, neuronal 10 - - - gene with protein product - - - - ClinVar - CTSD - - - Ensembl - ENSG00000117984 - - - Genatlas - CTSD - - - HGNC - 2529 - - - IUPHAR - 2345 - - - OMIM - 116840 - - - Reactome - P07339 - - - SwissProt - P07339 - - - - - 11p15.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 700487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700487 - Congenital CLN10 disease - - Clinical subtype - - - Subtype of disorder - - - - 32412666[PMID]_34733232[PMID]_34684815[PMID] - - cathepsin D - CTSD - - CLN10 - ceroid-lipofuscinosis, neuronal 10 - - - gene with protein product - - - - ClinVar - CTSD - - - Ensembl - ENSG00000117984 - - - Genatlas - CTSD - - - HGNC - 2529 - - - IUPHAR - 2345 - - - OMIM - 116840 - - - Reactome - P07339 - - - SwissProt - P07339 - - - - - 11p15.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 700484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700484 - Late infantile CLN8 disease - - Clinical subtype - - - Subtype of disorder - - - - 32412666[PMID]_34733232[PMID]_34684815[PMID] - - CLN8 transmembrane ER and ERGIC protein - CLN8 - - FLJ39417 - TLCD6 - - - gene with protein product - - - - ClinVar - CLN8 - - - HGNC - 2079 - - - OMIM - 607837 - - - SwissProt - Q9UBY8 - - - Ensembl - ENSG00000182372 - - - Genatlas - CLN8 - - - - - 8p23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 700477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700477 - Adult CLN6 disease - - Clinical subtype - - - Subtype of disorder - - - - 32412666[PMID]_34733232[PMID]_34684815[PMID] - - CLN6 transmembrane ER protein - CLN6 - - FLJ20561 - HsT18960 - nclf - - - gene with protein product - - - - Reactome - Q9NWW5 - - - ClinVar - CLN6 - - - Ensembl - ENSG00000128973 - - - Genatlas - CLN6 - - - HGNC - 2077 - - - OMIM - 606725 - - - SwissProt - Q9NWW5 - - - - - 15q23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 700472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700472 - Juvenile CLN6 disease - - Clinical subtype - - - Subtype of disorder - - - - 32412666[PMID]_34733232[PMID]_34684815[PMID] - - CLN6 transmembrane ER protein - CLN6 - - FLJ20561 - HsT18960 - nclf - - - gene with protein product - - - - Reactome - Q9NWW5 - - - ClinVar - CLN6 - - - Ensembl - ENSG00000128973 - - - Genatlas - CLN6 - - - HGNC - 2077 - - - OMIM - 606725 - - - SwissProt - Q9NWW5 - - - - - 15q23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 700188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700188 - Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy - - Disease - - - Disorder - - - - 30842289[PMID] - - ryanodine receptor 1 - RYR1 - - PPP1R137 - RYR - protein phosphatase 1, regulatory subunit 137 - - - gene with protein product - - - - ClinVar - RYR1 - - - Ensembl - ENSG00000196218 - - - Genatlas - RYR1 - - - HGNC - 10483 - - - IUPHAR - 747 - - - OMIM - 180901 - - - Reactome - P21817 - - - SwissProt - P21817 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101351 - Familial isolated congenital asplenia - - Morphological anomaly - - - Disorder - - - - 22560297[PMID] - - NK2 homeobox 5 - NKX2-5 - - tinman paralog (Drosophila) - CSX1 - NKX2.5 - NKX4-1 - tinman (Drosophila) homolog - - - gene with protein product - - - - Reactome - P52952 - - - SwissProt - P52952 - - - Ensembl - ENSG00000183072 - - - Genatlas - NKX2-5 - - - HGNC - 2488 - - - OMIM - 600584 - - - ClinVar - NKX2-5 - - - - - 5q35.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23579497[PMID] - - ribosomal protein SA - RPSA - - uS2 - 37LRP - LRP - SA - p40 - - - gene with protein product - - - - OMIM - 150370 - - - Reactome - P08865 - - - SwissProt - P08865 - - - Ensembl - ENSG00000168028 - - - Genatlas - RPSA - - - HGNC - 6502 - - - ClinVar - RPSA - - - - - 3p22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 700170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700170 - Asymetric thumb-handgrip weakness-distal myopathy - - Disease - - - Disorder - - - - 39468638[PMID] - - DnaJ heat shock protein family (Hsp40) member B4 - DNAJB4 - - HLJ1 - - - gene with protein product - - - - Ensembl - ENSG00000162616 - - - HGNC - 14886 - - - OMIM - 611327 - - - SwissProt - Q9UDY4 - - - - - 1p31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 700163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700163 - SMPX-related distal myopathy - - Disease - - - Disorder - - - - 33974137[PMID] - - small muscle protein X-linked - SMPX - - DFNX4 - Chisel - Csl - - - gene with protein product - - - - ClinVar - SMPX - - - Ensembl - ENSG00000091482 - - - Genatlas - SMPX - - - HGNC - 11122 - - - OMIM - 300226 - - - SwissProt - Q9UHP9 - - - - - Xp22.12 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 700154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700154 - TARDBP-related predominantly upper-limb distal myopathy - - Disease - - - Disorder - - - - 38079474[PMID] - - TAR DNA binding protein - TARDBP - - ALS10 - TDP-43 - - - gene with protein product - - - - ClinVar - TARDBP - - - Ensembl - ENSG00000120948 - - - Genatlas - TARDBP - - - HGNC - 11571 - - - OMIM - 605078 - - - SwissProt - Q13148 - - - Reactome - Q13148 - - - - - 1p36.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 700467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700467 - Late infantile CLN6 disease - - Clinical subtype - - - Subtype of disorder - - - - 32412666[PMID]_34733232[PMID]_34684815[PMID] - - CLN6 transmembrane ER protein - CLN6 - - FLJ20561 - HsT18960 - nclf - - - gene with protein product - - - - Reactome - Q9NWW5 - - - ClinVar - CLN6 - - - Ensembl - ENSG00000128973 - - - Genatlas - CLN6 - - - HGNC - 2077 - - - OMIM - 606725 - - - SwissProt - Q9NWW5 - - - - - 15q23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 700333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700333 - Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency - - Clinical subtype - - - Subtype of disorder - - - - 26708751[PMID]_26708753[PMID]_26545877[PMID] - - unc-80 homolog, NALCN channel complex subunit - UNC80 - - FLJ33496 - KIAA1843 - UNC-80 - - - gene with protein product - - - - HGNC - 26582 - - - OMIM - 612636 - - - Genatlas - UNC80 - - - SwissProt - Q8N2C7 - - - Reactome - Q8N2C7 - - - Ensembl - ENSG00000144406 - - - ClinVar - UNC80 - - - - - 2q34 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 700336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700336 - Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency - - Clinical subtype - - - Subtype of disorder - - - - 23749988[PMID]_24075186[PMID] - - sodium leak channel, non-selective - NALCN - - CanIon - bA430M15.1 - - - gene with protein product - - - - ClinVar - NALCN - - - Ensembl - ENSG00000102452 - - - Genatlas - NALCN - - - HGNC - 19082 - - - OMIM - 611549 - - - Reactome - Q8IZF0 - - - SwissProt - Q8IZF0 - - - IUPHAR - 750 - - - - - 13q32.3-q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 700325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700325 - NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome - - Malformation syndrome - - - Disorder - - - - 31587868[PMID] - - NFKB activating protein - NKAP - - NF kappaB activating protein - FLJ22626 - - - gene with protein product - - - - Ensembl - ENSG00000101882 - - - OMIM - 300766 - - - SwissProt - Q8N5F7 - - - HGNC - 29873 - - - - - Xq24 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 700205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700205 - Combined immunodeficiency due to IKBKB gain-of-function mutation - - Disease - - - Disorder - - - - 30337470[PMID] - - inhibitor of nuclear factor kappa B kinase subunit beta - IKBKB - - IKK-beta - IKK2 - IKKB - NFKBIKB - - - gene with protein product - - - - ClinVar - IKBKB - - - Ensembl - ENSG00000104365 - - - Genatlas - IKBKB - - - HGNC - 5960 - - - IUPHAR - 2039 - - - OMIM - 603258 - - - Reactome - O14920 - - - SwissProt - O14920 - - - - - 8p11.21 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 664511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664511 - Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency - - Clinical subtype - - - Subtype of disorder - - - - 36445457[PMID] - - adaptor related protein complex 3 subunit delta 1 - AP3D1 - - ADTD - - - gene with protein product - - - - Genatlas - AP3D1 - - - ClinVar - AP3D1 - - - Ensembl - ENSG00000065000 - - - OMIM - 607246 - - - SwissProt - O14617 - - - HGNC - 568 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101150 - Autosomal recessive dopa-responsive dystonia - - Disease - - - Disorder - - - - - - tyrosine hydroxylase - TH - - DYT5b - tyrosine 3-monooxygenase - - - gene with protein product - - - - ClinVar - TH - - - OMIM - 191290 - - - Reactome - P07101 - - - SwissProt - P07101 - - - Ensembl - ENSG00000180176 - - - Genatlas - TH - - - HGNC - 11782 - - - IUPHAR - 1243 - - - - - 11p15.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 33539324[PMID] - - TSPO associated protein 1 - TSPOAP1 - - KIAA0612 - RIM-BP1 - PRAX-1 - RIMBP1 - - - gene with protein product - - - - SwissProt - O95153 - - - HGNC - 16831 - - - OMIM - 610764 - - - Ensembl - ENSG00000005379 - - - - - 17q22 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 664500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664500 - Hermansky-Pudlak syndrome due to AP3B1 deficiency - - Clinical subtype - - - Subtype of disorder - - - - 10024875[PMID] - - adaptor related protein complex 3 subunit beta 1 - AP3B1 - - ADTB3A - HPS2 - beta-3A - - - gene with protein product - - - - ClinVar - AP3B1 - - - Ensembl - ENSG00000132842 - - - Genatlas - AP3B1 - - - HGNC - 566 - - - OMIM - 603401 - - - Reactome - O00203 - - - SwissProt - O00203 - - - - - 5q14.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 101111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101111 - Spinocerebellar ataxia type 25 - - Disease - - - Disorder - - - - - - spinocerebellar ataxia 25 - SCA25 - - - - Disorder-associated locus - - - - SwissProt - - - - Ensembl - - - - OMIM - - - - HGNC - 20684 - - - - - 2p21-p15 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35411967[PMID] - - polyribonucleotide nucleotidyltransferase 1 - PNPT1 - - 3'-5' RNA exonuclease - OLD35 - PNPase - Polynucleotide phosphorylase - old-35 - polynucleotide phosphorylase - - - gene with protein product - - - - ClinVar - PNPT1 - - - Ensembl - ENSG00000138035 - - - Genatlas - PNPT1 - - - HGNC - 23166 - - - OMIM - 610316 - - - SwissProt - Q8TCS8 - - - - - 2p16.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101112 - Spinocerebellar ataxia type 26 - - Disease - - - Disorder - - - - 23001565[PMID]_20301317[PMID] - - eukaryotic translation elongation factor 2 - EEF2 - - EEF-2 - Polypeptidyl-tRNA translocase - polypeptidyl-tRNA translocase - - - gene with protein product - - - - Ensembl - ENSG00000167658 - - - Genatlas - EEF2 - - - HGNC - 3214 - - - IUPHAR - 2756 - - - OMIM - 130610 - - - Reactome - P13639 - - - SwissProt - P13639 - - - ClinVar - EEF2 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101109 - Spinocerebellar ataxia type 28 - - Disease - - - Disorder - - - - - - AFG3 like matrix AAA peptidase subunit 2 - AFG3L2 - - SPAX5 - - - gene with protein product - - - - Reactome - Q9Y4W6 - - - Ensembl - ENSG00000141385 - - - Genatlas - AFG3L2 - - - HGNC - 315 - - - OMIM - 604581 - - - SwissProt - Q9Y4W6 - - - ClinVar - AFG3L2 - - - - - 18p11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 664438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664438 - Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - 311521168[PMID] - - potassium calcium-activated channel subfamily M alpha 1 - KCNMA1 - - BK channel alpha subunit - KCa1.1 - big potassium channel alpha subunit - mSLO1 - maxiK channel - - - gene with protein product - - - - Ensembl - ENSG00000156113 - - - Genatlas - KCNMA1 - - - HGNC - 6284 - - - IUPHAR - 380 - - - OMIM - 600150 - - - Reactome - Q12791 - - - SwissProt - Q12791 - - - ClinVar - KCNMA1 - - - - - 10q22.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 101110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101110 - Spinocerebellar ataxia type 20 - - Disease - - - Disorder - - - - - - spinocerebellar ataxia 20 - SCA20 - - - - Disorder-associated locus - - - - OMIM - - - - SwissProt - - - - HGNC - 17204 - - - Ensembl - - - - - - 11q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101108 - Spinocerebellar ataxia type 23 - - Disease - - - Disorder - - - - - - prodynorphin - PDYN - - ADCA - PENKB - beta-neoendorphin - dynorphin - leu-enkephalin - leumorphin - neoendorphin-dynorphin-enkephalin prepropeptide - preproenkephalin B - rimorphin - - - gene with protein product - - - - Genatlas - PDYN - - - HGNC - 8820 - - - OMIM - 131340 - - - Reactome - P01213 - - - SwissProt - P01213 - - - Ensembl - ENSG00000101327 - - - ClinVar - PDYN - - - - - 20p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 664430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664430 - Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - 37459438[PMID] - - solute carrier family 4 member 10 - SLC4A10 - - NCBE - NBCn2 - - - gene with protein product - - - - OMIM - 605556 - - - SwissProt - Q6U841 - - - IUPHAR - 911 - - - Ensembl - ENSG00000144290 - - - Reactome - Q6U841 - - - Genatlas - SLC4A10 - - - HGNC - 13811 - - - ClinVar - SLC4A10 - - - - - 2q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 664416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664416 - Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation - - Etiological subtype - - - Subtype of disorder - - - - 23389741[PMID] - - myocyte enhancer factor 2C - MEF2C - - - - gene with protein product - - - - Reactome - Q06413 - - - SwissProt - Q06413 - - - Ensembl - ENSG00000081189 - - - Genatlas - MEF2C - - - HGNC - 6996 - - - OMIM - 600662 - - - ClinVar - MEF2C - - - - - 5q14.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 664729 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664729 - EBV-induced lymphoproliferative disease due to TET2 deficiency - - Disease - - - Disorder - - - - 32518946[PMID] - - tet methylcytosine dioxygenase 2 - TET2 - - FLJ20032 - ten-eleven translocation 2 - - - gene with protein product - - - - ClinVar - TET2 - - - Ensembl - ENSG00000168769 - - - Genatlas - TET2 - - - HGNC - 25941 - - - OMIM - 612839 - - - Reactome - Q6N021 - - - SwissProt - Q6N021 - - - - - 4q24 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 664726 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664726 - EBV-induced lymphoproliferative disease due to CD137 deficiency - - Disease - - - Disorder - - - - 30872117[PMID] - - TNF receptor superfamily member 9 - TNFRSF9 - - CD137 - 4-1BB - - - gene with protein product - - - - ClinVar - TNFRSF9 - - - IUPHAR - 1878 - - - SwissProt - Q07011 - - - OMIM - 602250 - - - Reactome - Q07011 - - - Genatlas - TNFRSF9 - - - Ensembl - ENSG00000049249 - - - HGNC - 11924 - - - - - 1p36.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 664711 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664711 - EBV-induced lymphoproliferative disease due to PRKCD deficiency - - Disease - - - Disorder - - - - 23430113[PMID] - - protein kinase C delta - PRKCD - - - - gene with protein product - - - - ClinVar - PRKCD - - - IUPHAR - 1485 - - - OMIM - 176977 - - - Reactome - Q05655 - - - SwissProt - Q05655 - - - Ensembl - ENSG00000163932 - - - Genatlas - PRKCD - - - HGNC - 9399 - - - - - 3p21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 664699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664699 - EBV-induced lymphoproliferative disease due to RASGRP1 deficiency - - Disease - - - Disorder - - - - 28822832[PMID]_29282224[PMID] - - RAS guanyl releasing protein 1 - RASGRP1 - - calcium- and diacylglycerol-regulated guanine nucleotide exchange factor II - CalDAG-GEFII - RASGRP - - - gene with protein product - - - - IUPHAR - 3016 - - - Ensembl - ENSG00000172575 - - - SwissProt - O95267 - - - OMIM - 603962 - - - Genatlas - RASGRP1 - - - Reactome - O95267 - - - HGNC - 9878 - - - ClinVar - RASGRP1 - - - - - 15q14 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 101085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101085 - Charcot-Marie-Tooth disease type 1F - - Disease - - - Disorder - - - - 20301384[PMID] - - neurofilament light chain - NEFL - - CMT1F - CMT2E - NF68 - NFL - PPP1R110 - protein phosphatase 1, regulatory subunit 110 - - - gene with protein product - - - - Ensembl - ENSG00000277586 - - - Genatlas - NEFL - - - HGNC - 7739 - - - OMIM - 162280 - - - Reactome - P07196 - - - SwissProt - P07196 - - - ClinVar - NEFL - - - - - 8p21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101088 - X-linked hyper-IgM syndrome - - Clinical subtype - - - Subtype of disorder - - - - - - CD40 ligand - CD40LG - - CD40-L - CD154 - CD40 antigen ligand - CD40L - T-B cell-activating molecule - TNF-related activation protein - TRAP - gp39 - hCD40L - hyper-IgM syndrome - tumor necrosis factor (ligand) superfamily member 5 - T-BAM - - - gene with protein product - - - - Ensembl - ENSG00000102245 - - - Genatlas - CD40LG - - - HGNC - 11935 - - - OMIM - 300386 - - - Reactome - P29965 - - - SwissProt - P29965 - - - ClinVar - CD40LG - - - - - Xq26.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101081 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101081 - Charcot-Marie-Tooth disease type 1A - - Disease - - - Disorder - - - - 20301384[PMID] - - peripheral myelin protein 22 - PMP22 - - GAS3 - HNPP - Sp110 - HMSNIA - - - gene with protein product - - - - Reactome - Q01453 - - - ClinVar - PMP22 - - - Ensembl - ENSG00000109099 - - - Genatlas - PMP22 - - - HGNC - 9118 - - - OMIM - 601097 - - - SwissProt - Q01453 - - - - - 17p12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101082 - Charcot-Marie-Tooth disease type 1B - - Disease - - - Disorder - - - - 20301384[PMID] - - myelin protein zero - MPZ - - CMT2I - CMT2J - HMSNIB - P0 - - - gene with protein product - - - - ClinVar - MPZ - - - Ensembl - ENSG00000158887 - - - Genatlas - MPZ - - - HGNC - 7225 - - - OMIM - 159440 - - - SwissProt - P25189 - - - - - 1q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101083 - Charcot-Marie-Tooth disease type 1C - - Disease - - - Disorder - - - - 20301384[PMID] - - lipopolysaccharide induced TNF factor - LITAF - - small integral membrane protein of the late endosome - FLJ38636 - PIG7 - SIMPLE - TP53I7 - - - gene with protein product - - - - Reactome - Q99732 - - - ClinVar - LITAF - - - Ensembl - ENSG00000189067 - - - Genatlas - LITAF - - - HGNC - 16841 - - - OMIM - 603795 - - - SwissProt - Q99732 - - - - - 16p13.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101084 - Charcot-Marie-Tooth disease type 1D - - Disease - - - Disorder - - - - 20301384[PMID] - - early growth response 2 - EGR2 - - Krox-20 homolog, Drosophila - - - gene with protein product - - - - ClinVar - EGR2 - - - Ensembl - ENSG00000122877 - - - Genatlas - EGR2 - - - HGNC - 3239 - - - OMIM - 129010 - - - Reactome - P11161 - - - SwissProt - P11161 - - - - - 10q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101078 - X-linked Charcot-Marie-Tooth disease type 4 - - Disease - - - Disorder - - - - 23217327[PMID] - - apoptosis inducing factor mitochondria associated 1 - AIFM1 - - AIF - CMTX4 - DFNX5 - - - gene with protein product - - - - OMIM - 300169 - - - SwissProt - O95831 - - - Ensembl - ENSG00000156709 - - - Genatlas - AIFM1 - - - HGNC - 8768 - - - Reactome - O95831 - - - ClinVar - AIFM1 - - - - - Xq26.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 662234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662234 - Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - 33596411[PMID] - - spen family transcriptional repressor - SPEN - - KIAA0929 - MINT - SHARP - RBM15C - - - gene with protein product - - - - SwissProt - Q96T58 - - - OMIM - 613484 - - - Ensembl - ENSG00000065526 - - - HGNC - 17575 - - - ClinVar - SPEN - - - Genatlas - SPEN - - - - - 1p36.21-p36.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 662367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662367 - NESCAV syndrome - - Disease - - - Disorder - - - - 34121983[PMID] - - kinesin family member 1A - KIF1A - - UNC104 - - - gene with protein product - - - - Reactome - Q12756 - - - Ensembl - ENSG00000130294 - - - Genatlas - KIF1A - - - HGNC - 888 - - - OMIM - 601255 - - - SwissProt - Q12756 - - - ClinVar - KIF1A - - - - - 2q37.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 662216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662216 - Mucopolysaccharidosis type 10 - - Disease - - - Disorder - - - - 34916232[PMID] - - arylsulfatase family member K - ARSK - - DKFZp313G1735 - TSULF - - - gene with protein product - - - - OMIM - 610011 - - - SwissProt - Q6UWY0 - - - HGNC - 25239 - - - Ensembl - ENSG00000164291 - - - - - 5q15 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 662207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662207 - Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - 29938792[PMID]_32335897[PMID] - - heterogeneous nuclear ribonucleoprotein H1 - HNRNPH1 - - Heterogeneous nuclear ribonucleoprotein H - hnRNPH - - - gene with protein product - - - - Ensembl - ENSG00000169045 - - - Genatlas - HNRNPH1 - - - HGNC - 5041 - - - OMIM - 601035 - - - Reactome - P31943 - - - SwissProt - P31943 - - - ClinVar - HNRNPH1 - - - - - 5q35.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101075 - X-linked Charcot-Marie-Tooth disease type 1 - - Disease - - - Disorder - - - - 20301548[PMID] - - gap junction protein beta 1 - GJB1 - - CX32 - Charcot-Marie-Tooth neuropathy, X-linked - connexin 32 - - - gene with protein product - - - - IUPHAR - 723 - - - ClinVar - GJB1 - - - Ensembl - ENSG00000169562 - - - Genatlas - GJB1 - - - HGNC - 4283 - - - OMIM - 304040 - - - Reactome - P08034 - - - SwissProt - P08034 - - - - - Xq13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101102 - Charcot-Marie-Tooth disease type 2H - - Disease - - - Disorder - - - - 20301462[PMID] - - ganglioside induced differentiation associated protein 1 - GDAP1 - - CMT2K - CMT4 - - - gene with protein product - - - - ClinVar - GDAP1 - - - Ensembl - ENSG00000104381 - - - Genatlas - GDAP1 - - - HGNC - 15968 - - - OMIM - 606598 - - - SwissProt - Q8TB36 - - - - - 8q21.11 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 664401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664401 - Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation - - Etiological subtype - - - Subtype of disorder - - - - 31959127[PMID] - - TGF-beta activated kinase 1 (MAP3K7) binding protein 2 - TAB2 - - KIAA0733 - TAK1 binding protein 2 - - - gene with protein product - - - - Ensembl - ENSG00000055208 - - - OMIM - 605101 - - - SwissProt - Q9NYJ8 - - - Reactome - Q9NYJ8 - - - Genatlas - TAB2 - - - HGNC - 17075 - - - ClinVar - TAB2 - - - - - 6q25.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 101101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101101 - Charcot-Marie-Tooth disease type 2B2 - - Disease - - - Disorder - - - - 30039206[PMID] - - polynucleotide kinase 3'-phosphatase - PNKP - - PNK - - - gene with protein product - - - - Ensembl - ENSG00000039650 - - - Genatlas - PNKP - - - HGNC - 9154 - - - OMIM - 605610 - - - Reactome - Q96T60 - - - SwissProt - Q96T60 - - - ClinVar - PNKP - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 664404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664404 - 6q25.1 microdeletion syndrome - - Etiological subtype - - - Subtype of disorder - - - - 20493459[PMID] - - TGF-beta activated kinase 1 (MAP3K7) binding protein 2 - TAB2 - - KIAA0733 - TAK1 binding protein 2 - - - gene with protein product - - - - Ensembl - ENSG00000055208 - - - OMIM - 605101 - - - SwissProt - Q9NYJ8 - - - Reactome - Q9NYJ8 - - - Genatlas - TAB2 - - - HGNC - 17075 - - - ClinVar - TAB2 - - - - - 6q25.1 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 101097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101097 - Autosomal recessive Charcot-Marie-Tooth disease with hoarseness - - Disease - - - Disorder - - - - 20301462[PMID] - - ganglioside induced differentiation associated protein 1 - GDAP1 - - CMT2K - CMT4 - - - gene with protein product - - - - ClinVar - GDAP1 - - - Ensembl - ENSG00000104381 - - - Genatlas - GDAP1 - - - HGNC - 15968 - - - OMIM - 606598 - - - SwissProt - Q8TB36 - - - - - 8q21.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 662762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662762 - Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome - - Malformation syndrome - - - Disorder - - - - 35047857[PMID] - - actin related protein 2/3 complex subunit 4 - ARPC4 - - ARC20 - p20-Arc - Arp2/3 protein complex subunit p20 - actin related protein 2/3 complex, subunit 4 (20 kD) - - - gene with protein product - - - - OMIM - 604226 - - - HGNC - 707 - - - Ensembl - ENSG00000241553 - - - SwissProt - P59998 - - - - - 3p25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101090 - Hyper-IgM syndrome type 3 - - Clinical subtype - - - Subtype of disorder - - - - 11675497[PMID] - - CD40 molecule - CD40 - - Bp50 - p50 - - - gene with protein product - - - - IUPHAR - 1874 - - - HGNC - 11919 - - - OMIM - 109535 - - - Reactome - P25942 - - - SwissProt - P25942 - - - Ensembl - ENSG00000101017 - - - Genatlas - CD40 - - - ClinVar - CD40 - - - - - 20q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101089 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101089 - Hyper-IgM syndrome type 2 - - Clinical subtype - - - Subtype of disorder - - - - 11007475[PMID] - - activation induced cytidine deaminase - AICDA - - AID - ARP2 - CDA2 - HIGM2 - - - gene with protein product - - - - Reactome - Q9GZX7 - - - Ensembl - ENSG00000111732 - - - Genatlas - AICDA - - - HGNC - 13203 - - - OMIM - 605257 - - - SwissProt - Q9GZX7 - - - ClinVar - AICDA - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 662829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662829 - Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome - - Disease - - - Disorder - - - - 29985992[PMID] - - BCL11 transcription factor B - BCL11B - - CTIP2 - hRIT1-alpha - CTIP-2 - SMARCM2 - - - gene with protein product - - - - Ensembl - ENSG00000127152 - - - Genatlas - BCL11B - - - ClinVar - BCL11B - - - SwissProt - Q9C0K0 - - - OMIM - 606558 - - - HGNC - 13222 - - - - - 14q32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101092 - Hyper-IgM syndrome type 5 - - Clinical subtype - - - Subtype of disorder - - - - 12958596[PMID]_15967827[PMID] - - uracil DNA glycosylase - UNG - - HIGM4 - UDG - UNG1 - UNG2 - uracil-DNA glycosylase 1, uracil-DNA glycosylase 2 - - - gene with protein product - - - - ClinVar - UNG - - - Ensembl - ENSG00000076248 - - - Genatlas - UNG - - - HGNC - 12572 - - - OMIM - 191525 - - - SwissProt - P13051 - - - Reactome - P13051 - - - - - 12q24.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 675359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675359 - Anastomosing haemangioma - - Disease - - - Disorder - - - - 28084343[PMID] - - G protein subunit alpha q - GNAQ - - G-ALPHA-q - GAQ - - - gene with protein product - - - - IUPHAR - 2914 - - - Ensembl - ENSG00000156052 - - - Genatlas - GNAQ - - - HGNC - 4390 - - - OMIM - 600998 - - - Reactome - P50148 - - - SwissProt - P50148 - - - ClinVar - GNAQ - - - - - 9q21.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 29574926[PMID] - - G protein subunit alpha 14 - GNA14 - - - - gene with protein product - - - - HGNC - 4382 - - - OMIM - 604397 - - - Genatlas - GNA14 - - - SwissProt - O95837 - - - Reactome - O95837 - - - Ensembl - ENSG00000156049 - - - ClinVar - GNA14 - - - - - 9q21.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 31189994[PMID] - - G protein subunit alpha 11 - GNA11 - - FBH - FBH2 - FHH2 - - - gene with protein product - - - - Reactome - P29992 - - - SwissProt - P29992 - - - Ensembl - ENSG00000088256 - - - Genatlas - GNA11 - - - HGNC - 4379 - - - OMIM - 139313 - - - ClinVar - GNA11 - - - - - 19p13.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 675216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675216 - Spinocerebellar ataxia type 27B - - Disease - - - Disorder - - - - 36516086[PMID] - - fibroblast growth factor 14 - FGF14 - - FHF4 - SCA27 - - - gene with protein product - - - - Ensembl - ENSG00000102466 - - - Genatlas - FGF14 - - - HGNC - 3671 - - - OMIM - 601515 - - - Reactome - Q92915 - - - SwissProt - Q92915 - - - ClinVar - FGF14 - - - - - 13q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101049 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101049 - Familial hypocalciuric hypercalcemia type 2 - - Etiological subtype - - - Subtype of disorder - - - - 23802516[PMID] - - G protein subunit alpha 11 - GNA11 - - FBH - FBH2 - FHH2 - - - gene with protein product - - - - Reactome - P29992 - - - SwissProt - P29992 - - - Ensembl - ENSG00000088256 - - - Genatlas - GNA11 - - - HGNC - 4379 - - - OMIM - 139313 - - - ClinVar - GNA11 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 101050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101050 - Familial hypocalciuric hypercalcemia type 3 - - Etiological subtype - - - Subtype of disorder - - - - 23222959[PMID] - - adaptor related protein complex 2 subunit sigma 1 - AP2S1 - - FBH3 - FBHOk - sigma-2 - - - gene with protein product - - - - Ensembl - ENSG00000042753 - - - Genatlas - AP2S1 - - - HGNC - 565 - - - OMIM - 602242 - - - Reactome - P53680 - - - SwissProt - P53680 - - - ClinVar - AP2S1 - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101041 - Familial hypofibrinogenemia - - Clinical subtype - - - Subtype of disorder - - - - 18676163[PMID]_17295221[PMID] - - fibrinogen alpha chain - FGA - - - - gene with protein product - - - - ClinVar - FGA - - - Ensembl - ENSG00000171560 - - - Genatlas - FGA - - - HGNC - 3661 - - - OMIM - 134820 - - - Reactome - P02671 - - - SwissProt - P02671 - - - - - 4q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 17295221[PMID] - - fibrinogen beta chain - FGB - - - - gene with protein product - - - - ClinVar - FGB - - - Ensembl - ENSG00000171564 - - - Genatlas - FGB - - - HGNC - 3662 - - - OMIM - 134830 - - - Reactome - P02675 - - - SwissProt - P02675 - - - - - 4q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 18676163[PMID]_17295221[PMID] - - fibrinogen gamma chain - FGG - - - - gene with protein product - - - - Ensembl - ENSG00000171557 - - - Genatlas - FGG - - - HGNC - 3694 - - - OMIM - 134850 - - - Reactome - P02679 - - - SwissProt - P02679 - - - ClinVar - FGG - - - - - 4q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101046 - Epilepsy with auditory features - - Disease - - - Disorder - - - - 26046367[PMID] - - reelin - RELN - - PRO1598 - RL - - - gene with protein product - - - - ClinVar - RELN - - - Ensembl - ENSG00000189056 - - - Genatlas - RELN - - - HGNC - 9957 - - - OMIM - 600514 - - - SwissProt - P78509 - - - Reactome - P78509 - - - - - 7q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 12601709[PMID]_20301709[PMID] - - leucine rich glioma inactivated 1 - LGI1 - - EPITEMPIN - ETL1 - IB1099 - Epitempin-1 - - - gene with protein product - - - - ClinVar - LGI1 - - - Ensembl - ENSG00000108231 - - - Genatlas - LGI1 - - - HGNC - 6572 - - - OMIM - 604619 - - - Reactome - O95970 - - - SwissProt - O95970 - - - - - 10q23.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23542697[PMID]_23542701[PMID] - - DEP domain containing 5, GATOR1 subcomplex subunit - DEPDC5 - - DEP.5 - KIAA0645 - - - gene with protein product - - - - Ensembl - ENSG00000100150 - - - Genatlas - DEPDC5 - - - HGNC - 18423 - - - OMIM - 614191 - - - SwissProt - O75140 - - - ClinVar - DEPDC5 - - - - - 22q12.2-q12.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 101068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101068 - Congenital stromal corneal dystrophy - - Disease - - - Disorder - - - - 15671264[PMID]_20301741[PMID] - - decorin - DCN - - DSPG2 - SLRR1B - decorin proteoglycan - - - gene with protein product - - - - Ensembl - ENSG00000011465 - - - Genatlas - DCN - - - HGNC - 2705 - - - OMIM - 125255 - - - Reactome - P07585 - - - SwissProt - P07585 - - - ClinVar - DCN - - - - - 12q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 39169229[PMID] - - SPARC like 1 - SPARCL1 - - MAST9 - hevin - - - gene with protein product - - - - Ensembl - ENSG00000152583 - - - OMIM - 606041 - - - SwissProt - Q14515 - - - HGNC - 11220 - - - - - 4q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 675767 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675767 - Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency - - Disease - - - Disorder - - - - 29914977[PMID]_30237254[PMID] - - signal recognition particle 54 - SRP54 - - - - gene with protein product - - - - HGNC - 11301 - - - ClinVar - SRP54 - - - Ensembl - ENSG00000100883 - - - SwissProt - P61011 - - - OMIM - 604857 - - - Genatlas - SRP54 - - - Reactome - P61011 - - - - - 14q13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 101070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101070 - Bilateral frontoparietal polymicrogyria - - Clinical subtype - - - Subtype of disorder - - - - 21349848[PMID] - - adhesion G protein-coupled receptor G1 - ADGRG1 - - TM7LN4 - TM7XN1 - - - gene with protein product - - - - ClinVar - GPR56 - - - Ensembl - ENSG00000205336 - - - Genatlas - GPR56 - - - HGNC - 4512 - - - IUPHAR - 186 - - - OMIM - 604110 - - - SwissProt - Q9Y653 - - - - - 16q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 675396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675396 - Epithelioid hemangioma - - Disease - - - Disorder - - - - 25043949[PMID] - - FosB proto-oncogene, AP-1 transcription factor subunit - FOSB - - GOS3 - GOSB - activator protein 1 - oncogene FOS-B - MGC42291 - AP-1 - DKFZp686C0818 - G0S3 - - - gene with protein product - - - - HGNC - 3797 - - - OMIM - 164772 - - - SwissProt - P53539 - - - Ensembl - ENSG00000125740 - - - - - 19q13.32 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 25043949[PMID] - - ZFP36 ring finger protein like 2 - ZFP36L2 - - ERF2 - RNF162C - TIS11D - - - gene with protein product - - - - Ensembl - ENSG00000152518 - - - OMIM - 612053 - - - SwissProt - P47974 - - - HGNC - 1108 - - - - - 2p21 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 33034932[PMID] - - lamin A/C - LMNA - - HGPS - MADA - mandibuloacral dysplasia type A - progerin - - - gene with protein product - - - - ClinVar - LMNA - - - Ensembl - ENSG00000160789 - - - Genatlas - LMNA - - - HGNC - 6636 - - - OMIM - 150330 - - - Reactome - P02545 - - - SwissProt - P02545 - - - - - 1q22 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 26135557[PMID] - - vimentin - VIM - - - - gene with protein product - - - - Ensembl - ENSG00000026025 - - - Genatlas - VIM - - - HGNC - 12692 - - - OMIM - 193060 - - - Reactome - P08670 - - - SwissProt - P08670 - - - ClinVar - VIM - - - - - 10p13 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 33034932[PMID] - - Fos proto-oncogene, AP-1 transcription factor subunit - FOS - - AP-1 - c-fos - - - gene with protein product - - - - Ensembl - ENSG00000170345 - - - Genatlas - FOS - - - HGNC - 3796 - - - OMIM - 164810 - - - Reactome - P01100 - - - SwissProt - P01100 - - - ClinVar - FOS - - - - - 14q24.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 675628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675628 - TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome - - Disease - - - Disorder - - - - 33512449[PMID] - - toll like receptor 8 - TLR8 - - CD288 - hTLR8 - - - gene with protein product - - - - Ensembl - ENSG00000101916 - - - IUPHAR - 1758 - - - HGNC - 15632 - - - OMIM - 300366 - - - SwissProt - Q9NR97 - - - - - Xp22.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 101063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101063 - Situs inversus totalis - - Morphological anomaly - - - Disorder - - - - 27417436[PMID] - - ankyrin repeat and sterile alpha motif domain containing 3 - ANKS3 - - FLJ32345 - FLJ32767 - KIAA1977 - - - gene with protein product - - - - Ensembl - ENSG00000168096 - - - Genatlas - ANKS3 - - - OMIM - 617310 - - - ClinVar - ANKS3 - - - SwissProt - Q6ZW76 - - - HGNC - 29422 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27060491[PMID] - - NME/NM23 family member 7 - NME7 - - CFAP67 - cilia and flagella associated protein 67 - FLJ37194 - NM23-H7 - - - gene with protein product - - - - HGNC - 20461 - - - OMIM - 613465 - - - Genatlas - NME7 - - - Reactome - Q9Y5B8 - - - SwissProt - Q9Y5B8 - - - Ensembl - ENSG00000143156 - - - ClinVar - NME7 - - - - - 1q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 - CITED2 - - MRG1 - - - gene with protein product - - - - ClinVar - CITED2 - - - Ensembl - ENSG00000164442 - - - Genatlas - CITED2 - - - HGNC - 1987 - - - OMIM - 602937 - - - Reactome - Q99967 - - - SwissProt - Q99967 - - - - - 6q24.1 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - 19064609[PMID] - - nodal growth differentiation factor - NODAL - - - - gene with protein product - - - - ClinVar - NODAL - - - Ensembl - ENSG00000156574 - - - Genatlas - NODAL - - - HGNC - 7865 - - - OMIM - 601265 - - - Reactome - Q96S42 - - - SwissProt - Q96S42 - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22577226[PMID] - - cilia and flagella associated protein 53 - CFAP53 - - FLJ32743 - - - gene with protein product - - - - Reactome - Q96M91 - - - Ensembl - ENSG00000172361 - - - Genatlas - CCDC11 - - - HGNC - 26530 - - - OMIM - 614759 - - - SwissProt - Q96M91 - - - ClinVar - CCDC11 - - - - - 18q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25469542[PMID] - - cilia and flagella associated protein 52 - CFAP52 - - FLJ37528 - WD40-repeat protein upregulated in HCC - WDRPUH - - - gene with protein product - - - - ClinVar - WDR16 - - - Ensembl - ENSG00000166596 - - - Genatlas - WDR16 - - - HGNC - 16053 - - - OMIM - 609804 - - - SwissProt - Q8N1V2 - - - - - 17p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26429889[PMID]_26437028[PMID] - - matrix metallopeptidase 21 - MMP21 - - - - gene with protein product - - - - ClinVar - MMP21 - - - HGNC - 14357 - - - IUPHAR - 1644 - - - OMIM - 608416 - - - SwissProt - Q8N119 - - - Ensembl - ENSG00000154485 - - - Genatlas - MMP21 - - - - - 10q26.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 27616478[PMID] - - polycystin 1 like 1, transient receptor potential channel interacting - PKD1L1 - - polycystin-1L1 - PRO19563 - - - gene with protein product - - - - Genatlas - PKD1L1 - - - SwissProt - Q8TDX9 - - - Ensembl - ENSG00000158683 - - - ClinVar - PKD1L1 - - - HGNC - 18053 - - - OMIM - 609721 - - - - - 7p12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30471718[PMID] - - dynein axonemal heavy chain 9 - DNAH9 - - Dnahc9 - KIAA0357 - HL20 - HL-20 - DNAL1 - DYH9 - - - gene with protein product - - - - HGNC - 2953 - - - Ensembl - ENSG00000007174 - - - SwissProt - Q9NYC9 - - - OMIM - 603330 - - - - - 17p12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 34903892[PMID] - - ciliated left-right organizer metallopeptidase - CIROP - - - - gene with protein product - - - - Ensembl - ENSG00000283654 - - - SwissProt - A0A1B0GTW7 - - - HGNC - 53647 - - - OMIM - 619703 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 667662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667662 - Breast implant-associated anaplastic large cell lymphoma - - Disease - - - Disorder - - - - 33660353[PMID] - - Janus kinase 1 - JAK1 - - JAK1A - JTK3 - - - gene with protein product - - - - HGNC - 6190 - - - SwissProt - P23458 - - - OMIM - 147795 - - - ClinVar - JAK1 - - - IUPHAR - 2047 - - - Ensembl - ENSG00000162434 - - - Genatlas - JAK1 - - - - - 1p31.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 33660353[PMID] - - Janus kinase 2 - JAK2 - - JTK10 - - - gene with protein product - - - - Ensembl - ENSG00000096968 - - - Genatlas - JAK2 - - - HGNC - 6192 - - - IUPHAR - 2048 - - - OMIM - 147796 - - - Reactome - O60674 - - - SwissProt - O60674 - - - ClinVar - JAK2 - - - - - 9p24.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 33660353[PMID] - - signal transducer and activator of transcription 3 - STAT3 - - APRF - - - gene with protein product - - - - Ensembl - ENSG00000168610 - - - Genatlas - STAT3 - - - HGNC - 11364 - - - OMIM - 102582 - - - Reactome - P40763 - - - SwissProt - P40763 - - - IUPHAR - 2994 - - - ClinVar - STAT3 - - - - - 17q21.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 101023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101023 - Cleft hard palate - - Morphological anomaly - - - Disorder - - - - 27018472[PMID]_27018475[PMID] - - grainyhead like transcription factor 3 - GRHL3 - - SOM - sister-of-mammalian grainyhead - - - gene with protein product - - - - Reactome - Q8TE85 - - - Ensembl - ENSG00000158055 - - - Genatlas - GRHL3 - - - HGNC - 25839 - - - OMIM - 608317 - - - SwissProt - Q8TE85 - - - ClinVar - GRHL3 - - - - - 1p36.11 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 17468296[PMID] - - ubiquitin B - UBB - - FLJ25987 - MGC8385 - polyubiquitin B - - - gene with protein product - - - - OMIM - 191339 - - - Ensembl - ENSG00000170315 - - - HGNC - 12463 - - - Genatlas - UBB - - - SwissProt - P0CG47 - - - Reactome - P0CG47 - - - ClinVar - UBB - - - - - 17p11.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 101009 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101009 - Autosomal dominant spastic paraplegia type 29 - - Disease - - - Disorder - - - - 16130112[PMID] - - spastic paraplegia 29 (autosomal dominant) - SPG29 - - - - Disorder-associated locus - - - - Ensembl - - - - HGNC - 30161 - - - OMIM - - - - SwissProt - - - - - - 1p31.1-p21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101010 - Autosomal spastic paraplegia type 30 - - Disease - - - Disorder - - - - 22258533[PMID]_26410750[PMID] - - kinesin family member 1A - KIF1A - - UNC104 - - - gene with protein product - - - - Reactome - Q12756 - - - Ensembl - ENSG00000130294 - - - Genatlas - KIF1A - - - HGNC - 888 - - - OMIM - 601255 - - - SwissProt - Q12756 - - - ClinVar - KIF1A - - - - - 2q37.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101011 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101011 - Autosomal dominant spastic paraplegia type 31 - - Disease - - - Disorder - - - - 22703882[PMID] - - receptor accessory protein 1 - REEP1 - - FLJ13110 - SPG31 - Yip2a - receptor expression enhancing protein 1 - - - gene with protein product - - - - ClinVar - REEP1 - - - Ensembl - ENSG00000068615 - - - Genatlas - REEP1 - - - HGNC - 25786 - - - OMIM - 609139 - - - SwissProt - Q9H902 - - - Reactome - Q9H902 - - - - - 2p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101016 - Romano-Ward syndrome - - Disease - - - Disorder - - - - 25922419[PMID]_27807201[PMID]_27041150[PMID] - - triadin - TRDN - - triadin in skeletal muscle - TRISK - - - gene with protein product - - - - Ensembl - ENSG00000186439 - - - Genatlas - TRDN - - - HGNC - 12261 - - - OMIM - 603283 - - - Reactome - Q13061 - - - SwissProt - Q13061 - - - ClinVar - TRDN - - - - - 6q22.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301308[PMID]_24093767[PMID] - - potassium voltage-gated channel subfamily H member 2 - KCNH2 - - HERG - Kv11.1 - erg1 - human ether-a-go-go-related gene - long QT syndrome type 2 - - - gene with protein product - - - - Ensembl - ENSG00000055118 - - - Genatlas - KCNH2 - - - HGNC - 6251 - - - IUPHAR - 572 - - - OMIM - 152427 - - - Reactome - Q12809 - - - SwissProt - Q12809 - - - ClinVar - KCNH2 - - - - - 7q36.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301308[PMID]_24093767[PMID] - - potassium voltage-gated channel subfamily Q member 1 - KCNQ1 - - JLNS1 - Jervell and Lange-Nielsen syndrome 1 - KCNA8 - KVLQT1 - Kv7.1 - LQT1 - - - gene with protein product - - - - Ensembl - ENSG00000053918 - - - Genatlas - KCNQ1 - - - HGNC - 6294 - - - IUPHAR - 560 - - - OMIM - 607542 - - - Reactome - P51787 - - - SwissProt - P51787 - - - ClinVar - KCNQ1 - - - - - 11p15.5-p15.4 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301308[PMID]_24093767[PMID] - - caveolin 3 - CAV3 - - LGMD1C - LQT9 - M-caveolin - VIP-21 - VIP21 - - - gene with protein product - - - - Ensembl - ENSG00000182533 - - - Genatlas - CAV3 - - - HGNC - 1529 - - - OMIM - 601253 - - - Reactome - P56539 - - - SwissProt - P56539 - - - ClinVar - CAV3 - - - - - 3p25.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 12571597[PMID]_17242276[PMID]_19862833[PMID] - - ankyrin 2 - ANK2 - - CFAP87 - FAP87 - - - gene with protein product - - - - ClinVar - ANK2 - - - Reactome - Q01484 - - - SwissProt - Q01484 - - - Ensembl - ENSG00000145362 - - - Genatlas - ANK2 - - - HGNC - 493 - - - OMIM - 106410 - - - - - 4q25-q26 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301308[PMID]_24093767[PMID] - - potassium voltage-gated channel subfamily E regulatory subunit 1 - KCNE1 - - ISK - JLNS2 - LQT5 - minK - Long QT syndrome 5 - Jervell and Lange-Nielsen syndrome 2 - IsK - - - gene with protein product - - - - Reactome - P15382 - - - SwissProt - P15382 - - - Ensembl - ENSG00000180509 - - - Genatlas - KCNE1 - - - HGNC - 6240 - - - OMIM - 176261 - - - ClinVar - KCNE1 - - - - - 21q22.12 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301308[PMID]_24093767[PMID] - - potassium voltage-gated channel subfamily E regulatory subunit 2 - KCNE2 - - LQT6 - MiRP1 - - - gene with protein product - - - - Ensembl - ENSG00000159197 - - - Genatlas - KCNE2 - - - HGNC - 6242 - - - OMIM - 603796 - - - Reactome - Q9Y6J6 - - - SwissProt - Q9Y6J6 - - - ClinVar - KCNE2 - - - - - 21q22.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301308[PMID]_24093767[PMID] - - sodium voltage-gated channel alpha subunit 5 - SCN5A - - CDCD2 - CMPD2 - HB1 - HB2 - HBBD - HH1 - ICCD - IVF - LQT3 - Nav1.5 - PFHB1 - SSS1 - long QT syndrome 3 - - - gene with protein product - - - - ClinVar - SCN5A - - - Ensembl - ENSG00000183873 - - - Genatlas - SCN5A - - - HGNC - 10593 - - - IUPHAR - 582 - - - OMIM - 600163 - - - Reactome - Q14524 - - - SwissProt - Q14524 - - - - - 3p22.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 20301308[PMID]_24093767[PMID] - - A-kinase anchoring protein 9 - AKAP9 - - protein phosphatase 1, regulatory subunit 45 - A-kinase anchor protein, 350kDa - A-kinase anchoring protein 450 - AKAP120-like protein - AKAP350 - AKAP450 - AKAP9-BRAF fusion protein - CG-NAP - HYPERION - KIAA0803 - LQT11 - MU-RMS-40.16A - PPP1R45 - PRKA9 - YOTIAO - centrosome- and golgi-localized protein kinase N-associated protein - protein kinase A anchoring protein 9 - yotiao - - - gene with protein product - - - - ClinVar - AKAP9 - - - Ensembl - ENSG00000127914 - - - Genatlas - AKAP9 - - - HGNC - 379 - - - OMIM - 604001 - - - Reactome - Q99996 - - - SwissProt - Q99996 - - - - - 7q21.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 20301308[PMID]_24093767[PMID] - - sodium voltage-gated channel beta subunit 4 - SCN4B - - LQT10 - - - gene with protein product - - - - ClinVar - SCN4B - - - OMIM - 608256 - - - Reactome - Q8IWT1 - - - SwissProt - Q8IWT1 - - - Ensembl - ENSG00000177098 - - - Genatlas - SCN4B - - - HGNC - 10592 - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 20301308[PMID]_24093767[PMID] - - syntrophin alpha 1 - SNTA1 - - LQT12 - TACIP1 - dystrophin-associated protein A1, 59kDa, acidic component - pro-TGF-alpha cytoplasmic domain-interacting protein 1 - - - gene with protein product - - - - Reactome - Q13424 - - - Ensembl - ENSG00000101400 - - - Genatlas - SNTA1 - - - HGNC - 11167 - - - OMIM - 601017 - - - SwissProt - Q13424 - - - ClinVar - SNTA1 - - - - - 20q11.21 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 20301308[PMID]_24093767[PMID] - - potassium inwardly rectifying channel subfamily J member 5 - KCNJ5 - - CIR - GIRK4 - KATP1 - Kir3.4 - LQT13 - G protein-activated inward rectifier potassium channel 4 - - - gene with protein product - - - - Ensembl - ENSG00000120457 - - - Genatlas - KCNJ5 - - - HGNC - 6266 - - - IUPHAR - 437 - - - OMIM - 600734 - - - Reactome - P48544 - - - SwissProt - P48544 - - - ClinVar - KCNJ5 - - - - - 11q24.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 19822806[PMID]_20538168[PMID] - - nitric oxide synthase 1 adaptor protein - NOS1AP - - C-terminal PDZ domain ligand of neuronal nitric oxide synthase - CAPON - KIAA0464 - - - gene with protein product - - - - Ensembl - ENSG00000198929 - - - Genatlas - NOS1AP - - - HGNC - 16859 - - - OMIM - 605551 - - - SwissProt - O75052 - - - ClinVar - NOS1AP - - - - - 1q23.3 - 1 - - - - - Modifying germline mutation in - - - Assessed - - - - 23388215[PMID]_24076290[PMID] - - calmodulin 1 - CALM1 - - CAMI - DD132 - PHKD - prepro-calmodulin 1 - phosphorylase kinase subunit delta - PHKD1 - phosphorylase kinase subunit delta 1 - - - gene with protein product - - - - Ensembl - ENSG00000198668 - - - Genatlas - CALM1 - - - HGNC - 1442 - - - OMIM - 114180 - - - Reactome - P62158 - - - SwissProt - P0DP23 - - - ClinVar - CALM1 - - - - - 14q32.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23388215[PMID]_24917665[PMID] - - calmodulin 2 - CALM2 - - CAMII - PHKD - prepro-calmodulin 2 - PHKD2 - phosphorylase kinase subunit delta 2 - phosphorylase kinase subunit delta - - - gene with protein product - - - - Ensembl - ENSG00000143933 - - - Genatlas - CALM2 - - - HGNC - 1445 - - - OMIM - 114182 - - - SwissProt - P0DP24 - - - ClinVar - CALM2 - - - - - 2p21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 28407228[PMID] - - sodium voltage-gated channel alpha subunit 10 - SCN10A - - Nav1.8 - PN3 - SNS - hPN3 - peripheral nerve sodium channel 3 - sensory neuron sodium channel - - - gene with protein product - - - - Ensembl - ENSG00000185313 - - - Genatlas - SCN10A - - - HGNC - 10582 - - - IUPHAR - 585 - - - OMIM - 604427 - - - Reactome - Q9Y5Y9 - - - SwissProt - Q9Y5Y9 - - - ClinVar - SCN10A - - - - - 3p22.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 33369127[PMID] - - T-box transcription factor 5 - TBX5 - - - - gene with protein product - - - - Ensembl - ENSG00000089225 - - - Genatlas - TBX5 - - - HGNC - 11604 - - - OMIM - 601620 - - - Reactome - Q99593 - - - SwissProt - Q99593 - - - ClinVar - TBX5 - - - - - 12q24.21 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23677916[PMID] - - calcium voltage-gated channel subunit alpha1 C - CACNA1C - - CACH2 - CACN2 - Cav1.2 - LQT8 - TS - - - gene with protein product - - - - ClinVar - CACNA1C - - - Ensembl - ENSG00000151067 - - - Genatlas - CACNA1C - - - HGNC - 1390 - - - IUPHAR - 529 - - - OMIM - 114205 - - - Reactome - Q13936 - - - SwissProt - Q13936 - - - - - 12p13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 31170290[PMID] - - calmodulin 3 - CALM3 - - phosphorylase kinase subunit delta - phosphorylase kinase subunit delta 3 - PHKD - prepro-calmodulin 3 - PHKD3 - - - gene with protein product - - - - Ensembl - ENSG00000160014 - - - Genatlas - CALM3 - - - HGNC - 1449 - - - OMIM - 114183 - - - SwissProt - P0DP25 - - - ClinVar - CALM3 - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 674653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674653 - Actinomyopathy-associated syndromic thrombocytopenia - - Disease - - - Disorder - - - - 30315159[PMID] - - actin beta - ACTB - - ß-actin - β-actin - - - gene with protein product - - - - ClinVar - ACTB - - - Ensembl - ENSG00000075624 - - - Genatlas - ACTB - - - HGNC - 132 - - - OMIM - 102630 - - - Reactome - P60709 - - - SwissProt - P60709 - - - - - 7p22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 674762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674762 - Early-onset autoinflammatory syndrome due to A20 haploinsufficiency - - Disease - - - Disorder - - - - 30810840[PMID]_26642243[PMID] - - TNF alpha induced protein 3 - TNFAIP3 - - A20 - OTUD7C - - - gene with protein product - - - - SwissProt - P21580 - - - Ensembl - ENSG00000118503 - - - Genatlas - TNFAIP3 - - - HGNC - 11896 - - - OMIM - 191163 - - - Reactome - P21580 - - - ClinVar - TNFAIP3 - - - - - 6q23.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 101039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101039 - Female restricted epilepsy with intellectual disability - - Disease - - - Disorder - - - - 18469813[PMID]_19752159[PMID]_20830798[PMID] - - protocadherin 19 - PCDH19 - - EIEE9 - KIAA1313 - - - gene with protein product - - - - ClinVar - PCDH19 - - - Ensembl - ENSG00000165194 - - - Genatlas - PCDH19 - - - HGNC - 14270 - - - OMIM - 300460 - - - SwissProt - Q8TAB3 - - - - - Xq22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101028 - Transaldolase deficiency - - Disease - - - Disorder - - - - 23315216[PMID] - - transaldolase 1 - TALDO1 - - - - gene with protein product - - - - ClinVar - TALDO1 - - - Ensembl - ENSG00000177156 - - - Genatlas - TALDO1 - - - HGNC - 11559 - - - OMIM - 602063 - - - Reactome - P37837 - - - SwissProt - P37837 - - - - - 11p15.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 673556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673556 - Pseudomyogenic hemangioendothelioma - - Disease - - - Disorder - - - - 36803395[PMID] - - FosB proto-oncogene, AP-1 transcription factor subunit - FOSB - - GOS3 - GOSB - activator protein 1 - oncogene FOS-B - MGC42291 - AP-1 - DKFZp686C0818 - G0S3 - - - gene with protein product - - - - HGNC - 3797 - - - OMIM - 164772 - - - SwissProt - P53539 - - - Ensembl - ENSG00000125740 - - - - - 19q13.32 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 36803395[PMID] - - actin beta - ACTB - - ß-actin - β-actin - - - gene with protein product - - - - ClinVar - ACTB - - - Ensembl - ENSG00000075624 - - - Genatlas - ACTB - - - HGNC - 132 - - - OMIM - 102630 - - - Reactome - P60709 - - - SwissProt - P60709 - - - - - 7p22.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 36803395[PMID] - - WW domain containing transcription regulator 1 - WWTR1 - - DKFZp586I1419 - TAZ - transcriptional coactivator with PDZ-binding motif - - - gene with protein product - - - - ClinVar - WWTR1 - - - Ensembl - ENSG00000018408 - - - Genatlas - WWTR1 - - - HGNC - 24042 - - - OMIM - 607392 - - - Reactome - Q9GZV5 - - - SwissProt - Q9GZV5 - - - - - 3q25.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 36803395[PMID] - - serpin family E member 1 - SERPINE1 - - plasminogen activator inhibitor, type I - PAI - - - gene with protein product - - - - ClinVar - SERPINE1 - - - Ensembl - ENSG00000106366 - - - Genatlas - SERPINE1 - - - HGNC - 8583 - - - OMIM - 173360 - - - Reactome - P05121 - - - SwissProt - P05121 - - - - - 7q22.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 100984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100984 - Autosomal dominant spastic paraplegia type 3 - - Disease - - - Disorder - - - - 11685207[PMID] - - atlastin GTPase 1 - ATL1 - - AD-FSP - FSP1 - atlastin - - - gene with protein product - - - - Reactome - Q8WXF7 - - - Genatlas - ATL1 - - - HGNC - 11231 - - - OMIM - 606439 - - - SwissProt - Q8WXF7 - - - Ensembl - ENSG00000198513 - - - ClinVar - ATL1 - - - - - 14q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 685067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685067 - Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome - - Disease - - - Disorder - - - - 27736875[PMID] - - thrombospondin type laminin G domain and EAR repeats - TSPEAR - - MGC11251 - TSP-EAR - - - gene with protein product - - - - Ensembl - ENSG00000175894 - - - Genatlas - TSPEAR - - - HGNC - 1268 - - - OMIM - 612920 - - - SwissProt - Q8WU66 - - - ClinVar - TSPEAR - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 685082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685082 - Pediatric acute respiratory distress syndrome - - Disease - - - Disorder - - - - 27516224[PMID] - - ATP binding cassette subfamily A member 3 - ABCA3 - - ABC-C - EST111653 - LBM180 - - - gene with protein product - - - - ClinVar - ABCA3 - - - IUPHAR - 758 - - - Ensembl - ENSG00000167972 - - - Genatlas - ABCA3 - - - HGNC - 33 - - - OMIM - 601615 - - - Reactome - Q99758 - - - SwissProt - Q99758 - - - - - 16p13.3 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 11063734[PMID] - - surfactant protein B - SFTPB - - SP-B - - - gene with protein product - - - - ClinVar - SFTPB - - - Ensembl - ENSG00000168878 - - - Genatlas - SFTPB - - - HGNC - 10801 - - - OMIM - 178640 - - - Reactome - P07988 - - - SwissProt - P07988 - - - - - 2p11.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 29805340[PMID] - - surfactant protein C - SFTPC - - BRICD6 - BRICHOS domain containing 6 - PSP-C - SMDP2 - SP-C - - - gene with protein product - - - - ClinVar - SFTPC - - - Ensembl - ENSG00000168484 - - - Genatlas - SFTPC - - - HGNC - 10802 - - - OMIM - 178620 - - - Reactome - P11686 - - - SwissProt - P11686 - - - - - 8p21.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 685017 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685017 - Combined immunodeficiency due to TBX1 deficiency - - Disease - - - Disorder - - - - 17273972[PMID] - - T-box transcription factor 1 - TBX1 - - CATCH22 - - - gene with protein product - - - - Ensembl - ENSG00000184058 - - - Genatlas - TBX1 - - - HGNC - 11592 - - - OMIM - 602054 - - - SwissProt - O43435 - - - ClinVar - TBX1 - - - - - 22q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 100991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100991 - Autosomal dominant spastic paraplegia type 10 - - Disease - - - Disorder - - - - 21623771[PMID] - - kinesin family member 5A - KIF5A - - D12S1889 - MY050 - NKHC - neuron-specific kinesin heavy chain - - - gene with protein product - - - - ClinVar - KIF5A - - - Reactome - Q12840 - - - SwissProt - Q12840 - - - Ensembl - ENSG00000155980 - - - Genatlas - KIF5A - - - HGNC - 6323 - - - OMIM - 602821 - - - - - 12q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 100989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100989 - Autosomal dominant spastic paraplegia type 8 - - Disease - - - Disorder - - - - 17160902[PMID] - - WASH complex subunit 5 - WASHC5 - - strumpellin - - - gene with protein product - - - - Ensembl - ENSG00000164961 - - - Genatlas - KIAA0196 - - - HGNC - 28984 - - - OMIM - 610657 - - - SwissProt - Q12768 - - - ClinVar - KIAA0196 - - - - - 8q24.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 100988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100988 - Autosomal dominant spastic paraplegia type 6 - - Disease - - - Disorder - - - - 14508710[PMID]_15643603[PMID] - - NIPA magnesium transporter 1 - NIPA1 - - SLC57A1 - MGC35570 - - - gene with protein product - - - - Ensembl - ENSG00000170113 - - - Genatlas - NIPA1 - - - HGNC - 17043 - - - OMIM - 608145 - - - Reactome - Q7RTP0 - - - SwissProt - Q7RTP0 - - - IUPHAR - 3033 - - - ClinVar - NIPA1 - - - - - 15q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 100986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100986 - Autosomal recessive spastic paraplegia type 5A - - Disease - - - Disorder - - - - - - cytochrome P450 family 7 subfamily B member 1 - CYP7B1 - - - - gene with protein product - - - - ClinVar - CYP7B1 - - - HGNC - 2652 - - - OMIM - 603711 - - - Reactome - O75881 - - - SwissProt - O75881 - - - IUPHAR - 1355 - - - Ensembl - ENSG00000172817 - - - Genatlas - CYP7B1 - - - - - 8q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 100985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100985 - Autosomal dominant spastic paraplegia type 4 - - Disease - - - Disorder - - - - 17895902[PMID] - - spastin - SPAST - - ADPSP - FSP2 - KIAA1083 - - - gene with protein product - - - - ClinVar - SPAST - - - Genatlas - SPAST - - - HGNC - 11233 - - - OMIM - 604277 - - - SwissProt - Q9UBP0 - - - Ensembl - ENSG00000021574 - - - - - 2p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 687424 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687424 - ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion - - Etiological subtype - - - Subtype of disorder - - - - 25281490[PMID]_22847950[PMID] - - zinc finger MYND-type containing 11 - ZMYND11 - - BS69 - BRAM1 - - - gene with protein product - - - - ClinVar - ZMYND11 - - - Reactome - Q15326 - - - Ensembl - ENSG00000015171 - - - Genatlas - ZMYND11 - - - HGNC - 16966 - - - IUPHAR - 2782 - - - OMIM - 608668 - - - SwissProt - Q15326 - - - - - 10p15.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 100999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100999 - Autosomal dominant spastic paraplegia type 19 - - Disease - - - Disorder - - - - - - spastic paraplegia 19 (autosomal dominant) - SPG19 - - - - Disorder-associated locus - - - - Ensembl - - - - SwissProt - - - - HGNC - 16706 - - - OMIM - - - - - - 9q33-q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101000 - Autosomal recessive spastic paraplegia type 20 - - Disease - - - Disorder - - - - 12134148[PMID]_20437587[PMID] - - spartin - SPART - - KIAA0610 - TAHCCP1 - - - gene with protein product - - - - Reactome - Q8N0X7 - - - ClinVar - SPG20 - - - Ensembl - ENSG00000133104 - - - Genatlas - SPG20 - - - HGNC - 18514 - - - OMIM - 607111 - - - SwissProt - Q8N0X7 - - - - - 13q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 686999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686999 - Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome - - Disease - - - Disorder - - - - 37919452[PMID] - - phospholipase A and acyltransferase 3 - PLAAT3 - - phospholipase A/acyltransferase-3 - HREV107-3 - PLAAT-3 - adipose-specific PLA2 - H-REV107-1 - HREV107 - MGC118754. - AdPLA - phospholipase A/acyltransferase‐3 - - - gene with protein product - - - - Ensembl - ENSG00000176485 - - - OMIM - 613867 - - - SwissProt - P53816 - - - HGNC - 17825 - - - - - 11q12.3-q13.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 100997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100997 - X-linked spastic paraplegia type 16 - - Disease - - - Disorder - - - - - - spastic paraplegia 16 (complicated, X-linked recessive) - SPG16 - - - - Disorder-associated locus - - - - OMIM - - - - SwissProt - - - - HGNC - 14260 - - - Ensembl - - - - - - Xq11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 100998 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100998 - Autosomal dominant spastic paraplegia type 17 - - Disease - - - Disorder - - - - 14981520[PMID] - - BSCL2 lipid droplet biogenesis associated, seipin - BSCL2 - - seipin - - - gene with protein product - - - - Ensembl - ENSG00000168000 - - - Genatlas - BSCL2 - - - HGNC - 15832 - - - OMIM - 606158 - - - SwissProt - Q96G97 - - - ClinVar - BSCL2 - - - - - 11q12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 100995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100995 - Autosomal recessive spastic paraplegia type 14 - - Disease - - - Disorder - - - - - - spastic paraplegia 14 (autosomal recessive) - SPG14 - - - - Disorder-associated locus - - - - Ensembl - - - - SwissProt - - - - HGNC - 13730 - - - OMIM - - - - - - 3q27-q28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 686495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686495 - MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome - - Disease - - - Disorder - - - - 32761064[PMID] - - MAP kinase activating death domain - MADD - - DENN - RAB3GEP - KIAA0358 - IG20 - Insuloma-Glucagonoma protein 20 - differentially expressed in normal and neoplastic cells - - - gene with protein product - - - - SwissProt - Q8WXG6 - - - Ensembl - ENSG00000110514 - - - OMIM - 603584 - - - HGNC - 6766 - - - - - 11p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 100996 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100996 - Autosomal recessive spastic paraplegia type 15 - - Disease - - - Disorder - - - - 18394578[PMID]_19805727[PMID] - - zinc finger FYVE-type containing 26 - ZFYVE26 - - FYVE-CENT - KIAA0321 - spastizin - - - gene with protein product - - - - ClinVar - ZFYVE26 - - - Ensembl - ENSG00000072121 - - - Genatlas - ZFYVE26 - - - HGNC - 20761 - - - OMIM - 612012 - - - SwissProt - Q68DK2 - - - - - 14q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 686488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686488 - RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome - - Malformation syndrome - - - Disorder - - - - 38821540[PMID]_38645094[PMID] - - RNA, U4 small nuclear 2 - RNU4-2 - - U4A - U4c - U4b - - - Non-coding RNA - - - - Ensembl - ENSG00000202538 - - - HGNC - 10193 - - - OMIM - 620823 - - - SwissProt - - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 100993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100993 - Autosomal dominant spastic paraplegia type 12 - - Disease - - - Disorder - - - - 32934340[PMID] - - ubiquitin associated protein 1 - UBAP1 - - - - gene with protein product - - - - HGNC - 12461 - - - Ensembl - ENSG00000165006 - - - OMIM - 609787 - - - SwissProt - Q9NZ09 - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22232211[PMID] - - reticulon 2 - RTN2 - - NSP-like protein 1 - NSP2 - NSPL1 - Neuroendocrine-specific protein-like 1 - - - gene with protein product - - - - ClinVar - RTN2 - - - Ensembl - ENSG00000125744 - - - Genatlas - RTN2 - - - HGNC - 10468 - - - OMIM - 603183 - - - SwissProt - O75298 - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 686482 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686482 - BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome - - Malformation syndrome - - - Disorder - - - - 33522091[PMID] - - bromodomain PHD finger transcription factor - BPTF - - FAC1 - NURF301 - - - gene with protein product - - - - HGNC - 3581 - - - Ensembl - ENSG00000171634 - - - SwissProt - Q12830 - - - Reactome - Q12830 - - - IUPHAR - 2723 - - - OMIM - 601819 - - - - - 17q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 100994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100994 - Autosomal dominant spastic paraplegia type 13 - - Disease - - - Disorder - - - - 1189812[PMID] - - heat shock protein family D (Hsp60) member 1 - HSPD1 - - GROEL - HSP60 - GroEL - - - gene with protein product - - - - ClinVar - HSPD1 - - - Ensembl - ENSG00000144381 - - - Genatlas - HSPD1 - - - HGNC - 5261 - - - OMIM - 118190 - - - Reactome - P10809 - - - SwissProt - P10809 - - - - - 2q33.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101007 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101007 - Autosomal recessive spastic paraplegia type 27 - - Disease - - - Disorder - - - - - - spastic paraplegia 27 (autosomal recessive) - SPG27 - - - - Disorder-associated locus - - - - Ensembl - - - - OMIM - - - - HGNC - 26071 - - - SwissProt - - - - - - 10q22.1-q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 688543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688543 - Reticular dysgenesis-like severe combined immunodeficiency - - Disease - - - Disorder - - - - 31919089[PMID] - - Rac family small GTPase 2 - RAC2 - - EN-7 - - - gene with protein product - - - - ClinVar - RAC2 - - - Ensembl - ENSG00000128340 - - - Genatlas - RAC2 - - - HGNC - 9802 - - - OMIM - 602049 - - - Reactome - P15153 - - - SwissProt - P15153 - - - - - 22q13.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 101008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101008 - Autosomal recessive spastic paraplegia type 28 - - Disease - - - Disorder - - - - 23176821[PMID] - - DDHD domain containing 1 - DDHD1 - - PA-PLA1 - KIAA1705 - iPLA1alpha - iPLA1α - PAPLA1 - iPLA1a - intracellular phospholipase A1 alpha - phosphatidic acid-preferring phospholipase A1 - - - gene with protein product - - - - ClinVar - DDHD1 - - - Ensembl - ENSG00000100523 - - - Genatlas - DDHD1 - - - HGNC - 19714 - - - OMIM - 614603 - - - Reactome - Q8NEL9 - - - SwissProt - Q8NEL9 - - - - - 14q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101005 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101005 - Autosomal recessive spastic paraplegia type 25 - - Disease - - - Disorder - - - - - - spastic paraplegia 25 (autosomal recessive, with disc herniation) - SPG25 - - - - Disorder-associated locus - - - - Ensembl - - - - HGNC - 25855 - - - OMIM - - - - SwissProt - - - - - - 6q23-q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101006 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101006 - Autosomal recessive spastic paraplegia type 26 - - Disease - - - Disorder - - - - 23746551[PMID] - - beta-1,4-N-acetyl-galactosaminyltransferase 1 - B4GALNT1 - - GD2 synthase, GM2 synthase - beta1-4GalNAc-T - - - gene with protein product - - - - Ensembl - ENSG00000135454 - - - Genatlas - B4GALNT1 - - - HGNC - 4117 - - - OMIM - 601873 - - - SwissProt - Q00973 - - - ClinVar - B4GALNT1 - - - Reactome - Q00973 - - - - - 12q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101003 - Autosomal recessive spastic paraplegia type 23 - - Disease - - - Disorder - - - - 28157540[PMID] - - dual serine/threonine and tyrosine protein kinase - DSTYK - - DustyPK - KIAA0472 - RIP5 - - - gene with protein product - - - - ClinVar - DSTYK - - - Ensembl - ENSG00000133059 - - - Genatlas - DSTYK - - - HGNC - 29043 - - - IUPHAR - 2008 - - - OMIM - 612666 - - - SwissProt - Q6XUX3 - - - - - 1q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - spastic paraplegia 23 (autosomal recessive) - SPG23 - - - - Disorder-associated locus - - - - HGNC - 21340 - - - - - 1q24-q32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101004 - Autosomal recessive spastic paraplegia type 24 - - Disease - - - Disorder - - - - - - spastic paraplegia 24 (autosomal recessive) - SPG24 - - - - Disorder-associated locus - - - - OMIM - - - - SwissProt - - - - HGNC - 22993 - - - Ensembl - - - - - - 13q14 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 101001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101001 - Autosomal recessive spastic paraplegia type 21 - - Disease - - - Disorder - - - - - - SPG21 abhydrolase domain containing, maspardin - SPG21 - - ACP33 - BM-019 - GL010 - MAST - ABHD21 - - - gene with protein product - - - - Reactome - Q9NZD8 - - - ClinVar - SPG21 - - - Ensembl - ENSG00000090487 - - - Genatlas - SPG21 - - - HGNC - 20373 - - - OMIM - 608181 - - - SwissProt - Q9NZD8 - - - - - 15q22.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 675775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675775 - Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome - - Disease - - - Disorder - - - - 29784638[PMID] - - rabenosyn, RAB effector - RBSN - - Rabenosyn-5 - - - gene with protein product - - - - Reactome - Q9H1K0 - - - HGNC - 20759 - - - Ensembl - ENSG00000131381 - - - SwissProt - Q9H1K0 - - - OMIM - 609511 - - - Genatlas - RBSN - - - ClinVar - RBSN - - - - - 3p25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 675782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675782 - Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN - - Disease - - - Disorder - - - - 35652444[PMID] - - rabenosyn, RAB effector - RBSN - - Rabenosyn-5 - - - gene with protein product - - - - Reactome - Q9H1K0 - - - HGNC - 20759 - - - Ensembl - ENSG00000131381 - - - SwissProt - Q9H1K0 - - - OMIM - 609511 - - - Genatlas - RBSN - - - ClinVar - RBSN - - - - - 3p25.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 676039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676039 - Combined immunodeficiency due to FOXN1 haploinsufficiency - - Disease - - - Disorder - - - - 31447097[PMID] - - forkhead box N1 - FOXN1 - - FKHL20 - - - gene with protein product - - - - Reactome - O15353 - - - Ensembl - ENSG00000109101 - - - IUPHAR - 2958 - - - ClinVar - FOXN1 - - - Genatlas - FOXN1 - - - HGNC - 12765 - - - OMIM - 600838 - - - SwissProt - O15353 - - - - - 17q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 676125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676125 - X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency - - Disease - - - Disorder - - - - 34326534[PMID] - - E74 like ETS transcription factor 4 - ELF4 - - ELFR - MEF - - - gene with protein product - - - - Ensembl - ENSG00000102034 - - - Genatlas - ELF4 - - - HGNC - 3319 - - - OMIM - 300775 - - - SwissProt - Q99607 - - - ClinVar - ELF4 - - - - - Xq26.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 100093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100093 - Carcinoid syndrome - - Clinical syndrome - - - Disorder - - - - 12007193[PMID] - - succinate dehydrogenase complex subunit D - SDHD - - cybS - small subunit of cytochrome b - - - gene with protein product - - - - ClinVar - SDHD - - - Ensembl - ENSG00000204370 - - - Genatlas - SDHD - - - HGNC - 10683 - - - OMIM - 602690 - - - Reactome - O14521 - - - SwissProt - O14521 - - - - - 11q23.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 100924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100924 - Porphyria due to ALA dehydratase deficiency - - Disease - - - Disorder - - - - 2063868[PMID]_16343966[PMID] - - aminolevulinate dehydratase - ALAD - - ALADH - PBGS - porphobilinogen synthase - - - gene with protein product - - - - Ensembl - ENSG00000148218 - - - Genatlas - ALAD - - - HGNC - 395 - - - OMIM - 125270 - - - Reactome - P13716 - - - SwissProt - P13716 - - - ClinVar - ALAD - - - - - 9q32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 684216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684216 - Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome - - Malformation syndrome - - - Disorder - - - - 31928709[PMID]_34750377[PMID] - - tet methylcytosine dioxygenase 3 - TET3 - - MGC22014 - hCG_40738 - ten-eleven translocation 3 - - - gene with protein product - - - - OMIM - 613555 - - - SwissProt - O43151 - - - HGNC - 28313 - - - Ensembl - ENSG00000187605 - - - - - 2p13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 684305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684305 - Neurooculocardiogenitourinary syndrome - - Disease - - - Disorder - - - - 31327508[PMID]_31327510[PMID] - - WD repeat domain 37 - WDR37 - - KIAA0982 - - - gene with protein product - - - - Ensembl - ENSG00000047056 - - - OMIM - 618586 - - - SwissProt - Q9Y2I8 - - - HGNC - 31406 - - - - - 10p15.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 100973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100973 - FRAXE intellectual disability - - Disease - - - Disorder - - - - 21739600[PMID] - - ALF transcription elongation factor 2 - AFF2 - - FRAXE - - - gene with protein product - - - - Ensembl - ENSG00000155966 - - - Genatlas - AFF2 - - - HGNC - 3776 - - - OMIM - 300806 - - - SwissProt - P51816 - - - ClinVar - AFF2 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 16469443[PMID]_11015457[PMID] - - fragile X mental retardation associated 3 - FMR3 - - - - Disorder-associated locus - - - - ClinVar - FMR3 - - - Ensembl - - - - Genatlas - FMR3 - - - HGNC - 3777 - - - OMIM - - - - SwissProt - - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 100974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100974 - FRAXF syndrome - - Disease - - - Disorder - - - - 7874164[PMID] - - transmembrane protein 185A - TMEM185A - - - - gene with protein product - - - - Ensembl - ENSG00000269556 - - - Genatlas - TMEM185A - - - HGNC - 17125 - - - OMIM - 300031 - - - SwissProt - Q8NFB2 - - - ClinVar - TMEM185A - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 684742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684742 - 2q13 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - 24694933[PMID] - - fibulin 7 - FBLN7 - - TM14 - FLJ37440 - - - gene with protein product - - - - Ensembl - ENSG00000144152 - - - HGNC - 26740 - - - OMIM - 611551 - - - SwissProt - Q53RD9 - - - - - 2q13 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 24694933[PMID] - - transmembrane protein 87B - TMEM87B - - FLJ14681 - - - gene with protein product - - - - Ensembl - ENSG00000153214 - - - OMIM - 617203 - - - SwissProt - Q96K49 - - - HGNC - 25913 - - - - - 2q13 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 100976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100976 - Bathing suit ichthyosis - - Disease - - - Disorder - - - - 16968736[PMID]_20301593[PMID] - - transglutaminase 1 - TGM1 - - K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase - LI - LI1 - TGASE - TGK - - - gene with protein product - - - - ClinVar - TGM1 - - - Reactome - P22735 - - - Ensembl - ENSG00000092295 - - - Genatlas - TGM1 - - - HGNC - 11777 - - - OMIM - 190195 - - - SwissProt - P22735 - - - - - 14q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 684232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684232 - Intellectual disability-épilepsy-dental anomalies-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - 33513338[PMID] - - SATB homeobox 1 - SATB1 - - - - gene with protein product - - - - SwissProt - Q01826 - - - Reactome - Q01826 - - - OMIM - 602075 - - - HGNC - 10541 - - - Ensembl - ENSG00000182568 - - - - - 3p24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 684226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684226 - Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome - - Malformation syndrome - - - Disorder - - - - 28191889[PMID]_38571636[PMID]_36897941[PMID] - - lysine methyltransferase 5B - KMT5B - - CGI-85 - Histone-lysine N-methyltransferase - - - gene with protein product - - - - OMIM - 610881 - - - IUPHAR - 2717 - - - SwissProt - Q4FZB7 - - - HGNC - 24283 - - - Ensembl - ENSG00000110066 - - - - - 11q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 684247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684247 - Isolated growth hormone deficiency type IV - - Clinical subtype - - - Subtype of disorder - - - - 36960394[PMID] - - growth hormone releasing hormone receptor - GHRHR - - - - gene with protein product - - - - ClinVar - GHRHR - - - Ensembl - ENSG00000106128 - - - Genatlas - GHRHR - - - HGNC - 4266 - - - IUPHAR - 247 - - - OMIM - 139191 - - - Reactome - Q02643 - - - SwissProt - Q02643 - - - - - 7p14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 684240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684240 - Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome - - Malformation syndrome - - - Disorder - - - - 32006098[PMID] - - Yip1 interacting factor homolog B, membrane trafficking protein - YIF1B - - FinGER8 - - - gene with protein product - - - - Ensembl - ENSG00000167645 - - - OMIM - 619109 - - - SwissProt - Q5BJH7 - - - HGNC - 30511 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 100054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100054 - F12-related hereditary angioedema with normal C1Inh - - Clinical subtype - - - Subtype of disorder - - - - 20384613[PMID] - - coagulation factor XII - F12 - - Plasma coagulation Factor XIIa - - - gene with protein product - - - - Ensembl - ENSG00000131187 - - - Genatlas - F12 - - - HGNC - 3530 - - - IUPHAR - 2361 - - - OMIM - 610619 - - - Reactome - P00748 - - - ClinVar - F12 - - - SwissProt - P00748 - - - - - 5q35.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 100051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100051 - Hereditary angioedema type 2 - - Etiological subtype - - - Subtype of disorder - - - - 24456027[PMID] - - serpin family G member 1 - SERPING1 - - C1-inhibitor - C1-INH - C1IN - HAE1 - HAE2 - angioedema, hereditary - plasma protease C1 inhibitor - C1INH - - - gene with protein product - - - - ClinVar - SERPING1 - - - Ensembl - ENSG00000149131 - - - Genatlas - SERPING1 - - - HGNC - 1228 - - - OMIM - 606860 - - - Reactome - P05155 - - - SwissProt - P05155 - - - - - 11q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 100057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100057 - Renin-angiotensin-aldosterone system-blocker-induced angioedema - - Disease - - - Disorder - - - - - - X-prolyl aminopeptidase 2 - XPNPEP2 - - - - gene with protein product - - - - ClinVar - XPNPEP2 - - - Ensembl - ENSG00000122121 - - - Genatlas - XPNPEP2 - - - HGNC - 12823 - - - IUPHAR - 1579 - - - OMIM - 300145 - - - SwissProt - O43895 - - - Reactome - O43895 - - - - - Xq26.1 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - 692173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692173 - Marbach-Schaaf neurodevelopmental syndrome - - Disease - - - Disorder - - - - 33833410[PMID] - - protein kinase cAMP-dependent type I regulatory subunit beta - PRKAR1B - - - - gene with protein product - - - - IUPHAR - 1473 - - - OMIM - 176911 - - - Reactome - P31321 - - - SwissProt - P31321 - - - Ensembl - ENSG00000188191 - - - Genatlas - PRKAR1B - - - HGNC - 9390 - - - ClinVar - PRKAR1B - - - - - 7p22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 692193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692193 - CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome - - Malformation syndrome - - - Disorder - - - - 37628598[PMID]_35271727[PMID] - - chromosome alignment maintaining phosphoprotein 1 - CHAMP1 - - CAMP - CHAMP - chromosome alignment-maintaining phosphoprotein - - - gene with protein product - - - - HGNC - 20311 - - - OMIM - 616327 - - - Genatlas - CHAMP1 - - - SwissProt - Q96JM3 - - - Ensembl - ENSG00000198824 - - - Reactome - Q96JM3 - - - ClinVar - CHAMP1 - - - - - 13q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 692812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692812 - RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome - - Disease - - - Disorder - - - - 38410820[PMID] - - Rac family small GTPase 2 - RAC2 - - EN-7 - - - gene with protein product - - - - ClinVar - RAC2 - - - Ensembl - ENSG00000128340 - - - Genatlas - RAC2 - - - HGNC - 9802 - - - OMIM - 602049 - - - Reactome - P15153 - - - SwissProt - P15153 - - - - - 22q13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 693549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693549 - Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome - - Malformation syndrome - - - Disorder - - - - 31834374[PMID]_31839203[PMID]_37575653[PMID] - - MN1 proto-oncogene, transcriptional regulator - MN1 - - MGCR1 - MGCR1-PEN - probable tumor suppressor protein MN1 - - - gene with protein product - - - - Ensembl - ENSG00000169184 - - - Genatlas - MN1 - - - HGNC - 7180 - - - OMIM - 156100 - - - SwissProt - Q10571 - - - ClinVar - MN1 - - - - - 22q12.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 692790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692790 - ATP6AP1-CDG - - Disease - - - Disorder - - - - 35732497[PMID]_27231034[PMID] - - ATPase H+ transporting accessory protein 1 - ATP6AP1 - - VATPS1 - XAP3 - X-associated protein 3 - XAP-3 - vacuolar ATPase subunit S1 - 16A - Ac45 - ORF - CF2 - - - gene with protein product - - - - HGNC - 868 - - - Ensembl - ENSG00000071553 - - - OMIM - 300197 - - - SwissProt - Q15904 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 100069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100069 - Semantic dementia - - Disease - - - Disorder - - - - 11094121[PMID] - - presenilin 1 - PSEN1 - - FAD - PS1 - S182 - familial Alzheimer Disease - PS-1 - PSNL1 - - - gene with protein product - - - - ClinVar - PSEN1 - - - Ensembl - ENSG00000080815 - - - Genatlas - PSEN1 - - - HGNC - 9508 - - - IUPHAR - 2402 - - - OMIM - 104311 - - - Reactome - P49768 - - - SwissProt - P49768 - - - - - 14q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27543298[PMID]_21614538[PMID] - - transmembrane protein 106B - TMEM106B - - FLJ11273 - MGC33727 - - - gene with protein product - - - - HGNC - 22407 - - - Ensembl - ENSG00000106460 - - - OMIM - 613413 - - - Genatlas - TMEM106B - - - SwissProt - Q9NUM4 - - - ClinVar - TMEM106B - - - - - 7p21.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23597030[PMID] - - charged multivesicular body protein 2B - CHMP2B - - CHMP2.5 - DKFZP564O123 - VPS2 homolog B (S. cerevisiae) - VPS2B - - - gene with protein product - - - - Ensembl - ENSG00000083937 - - - Genatlas - CHMP2B - - - HGNC - 24537 - - - OMIM - 609512 - - - Reactome - Q9UQN3 - - - SwissProt - Q9UQN3 - - - ClinVar - CHMP2B - - - - - 3p11.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 24139279[PMID]_25042114[PMID] - - triggering receptor expressed on myeloid cells 2 - TREM2 - - TREM-2 - Trem2a - Trem2b - Trem2c - - - gene with protein product - - - - Ensembl - ENSG00000095970 - - - Genatlas - TREM2 - - - HGNC - 17761 - - - OMIM - 605086 - - - Reactome - Q9NZC2 - - - SwissProt - Q9NZC2 - - - ClinVar - TREM2 - - - - - 6p21.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23597030[PMID] - - microtubule associated protein tau - MAPT - - FLJ31424 - FTDP-17 - G protein beta1/gamma2 subunit-interacting factor 1 - MGC138549 - MSTD - MTBT1 - MTBT2 - PPND - PPP1R103 - microtubule-associated protein tau, isoform 4 - protein phosphatase 1, regulatory subunit 103 - tau - tau-40 - TAU - Tau-PHF6 - Tau-derived paired helical filament hexapeptide - - - gene with protein product - - - - Ensembl - ENSG00000186868 - - - Genatlas - MAPT - - - HGNC - 6893 - - - OMIM - 157140 - - - Reactome - P10636 - - - SwissProt - P10636 - - - ClinVar - MAPT - - - - - 17q21.31 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23597030[PMID] - - granulin precursor - GRN - - CLN11 - PCDGF - PGRN - progranulin - - - gene with protein product - - - - Reactome - P28799 - - - ClinVar - GRN - - - Ensembl - ENSG00000030582 - - - Genatlas - GRN - - - HGNC - 4601 - - - OMIM - 138945 - - - SwissProt - P28799 - - - - - 17q21.31 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23597030[PMID] - - C9orf72-SMCR8 complex subunit - C9ORF72 - - MGC23980 - DENNL72 - DENND9 - - - gene with protein product - - - - ClinVar - C9orf72 - - - Ensembl - ENSG00000147894 - - - Genatlas - C9orf72 - - - HGNC - 28337 - - - OMIM - 614260 - - - SwissProt - Q96LT7 - - - - - 9p21.2 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - 693627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693627 - Agammaglobulinemia-skin involvement-failure to thrive syndrome - - Disease - - - Disorder - - - - 30718914[PMID] - - solute carrier family 39 member 7 - SLC39A7 - - ZRT/IRT-like protein 7 - zinc transporter 7 - ZIP7 - RING5 - KE4 - D6S2244E - H2-KE4 - - - gene with protein product - - - - IUPHAR - 1186 - - - Ensembl - ENSG00000112473 - - - OMIM - 601416 - - - Reactome - Q92504 - - - SwissProt - Q92504 - - - HGNC - 4927 - - - - - 6p21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 100070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100070 - Progressive non-fluent aphasia - - Disease - - - Disorder - - - - 27543298[PMID]_21614538[PMID] - - transmembrane protein 106B - TMEM106B - - FLJ11273 - MGC33727 - - - gene with protein product - - - - HGNC - 22407 - - - Ensembl - ENSG00000106460 - - - OMIM - 613413 - - - Genatlas - TMEM106B - - - SwissProt - Q9NUM4 - - - ClinVar - TMEM106B - - - - - 7p21.3 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 15122701[PMID] - - presenilin 1 - PSEN1 - - FAD - PS1 - S182 - familial Alzheimer Disease - PS-1 - PSNL1 - - - gene with protein product - - - - ClinVar - PSEN1 - - - Ensembl - ENSG00000080815 - - - Genatlas - PSEN1 - - - HGNC - 9508 - - - IUPHAR - 2402 - - - OMIM - 104311 - - - Reactome - P49768 - - - SwissProt - P49768 - - - - - 14q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23597030[PMID] - - charged multivesicular body protein 2B - CHMP2B - - CHMP2.5 - DKFZP564O123 - VPS2 homolog B (S. cerevisiae) - VPS2B - - - gene with protein product - - - - Ensembl - ENSG00000083937 - - - Genatlas - CHMP2B - - - HGNC - 24537 - - - OMIM - 609512 - - - Reactome - Q9UQN3 - - - SwissProt - Q9UQN3 - - - ClinVar - CHMP2B - - - - - 3p11.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 25042114[PMID] - - triggering receptor expressed on myeloid cells 2 - TREM2 - - TREM-2 - Trem2a - Trem2b - Trem2c - - - gene with protein product - - - - Ensembl - ENSG00000095970 - - - Genatlas - TREM2 - - - HGNC - 17761 - - - OMIM - 605086 - - - Reactome - Q9NZC2 - - - SwissProt - Q9NZC2 - - - ClinVar - TREM2 - - - - - 6p21.1 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23597030[PMID] - - valosin containing protein - VCP - - CDC48 - p97 - IBMPFD - TERA - transitional endoplasmic reticulum ATPase - - - gene with protein product - - - - ClinVar - VCP - - - Ensembl - ENSG00000165280 - - - Genatlas - VCP - - - HGNC - 12666 - - - OMIM - 601023 - - - Reactome - P55072 - - - SwissProt - P55072 - - - - - 9p13.3 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - 23597030[PMID] - - microtubule associated protein tau - MAPT - - FLJ31424 - FTDP-17 - G protein beta1/gamma2 subunit-interacting factor 1 - MGC138549 - MSTD - MTBT1 - MTBT2 - PPND - PPP1R103 - microtubule-associated protein tau, isoform 4 - protein phosphatase 1, regulatory subunit 103 - tau - tau-40 - TAU - Tau-PHF6 - Tau-derived paired helical filament hexapeptide - - - gene with protein product - - - - Ensembl - ENSG00000186868 - - - Genatlas - MAPT - - - HGNC - 6893 - - - OMIM - 157140 - - - Reactome - P10636 - - - SwissProt - P10636 - - - ClinVar - MAPT - - - - - 17q21.31 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23597030[PMID] - - granulin precursor - GRN - - CLN11 - PCDGF - PGRN - progranulin - - - gene with protein product - - - - Reactome - P28799 - - - ClinVar - GRN - - - Ensembl - ENSG00000030582 - - - Genatlas - GRN - - - HGNC - 4601 - - - OMIM - 138945 - - - SwissProt - P28799 - - - - - 17q21.31 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 23597030[PMID] - - C9orf72-SMCR8 complex subunit - C9ORF72 - - MGC23980 - DENNL72 - DENND9 - - - gene with protein product - - - - ClinVar - C9orf72 - - - Ensembl - ENSG00000147894 - - - Genatlas - C9orf72 - - - HGNC - 28337 - - - OMIM - 614260 - - - SwissProt - Q96LT7 - - - - - 9p21.2 - 1 - - - - - Major susceptibility factor in - - - Not yet assessed - - - - - - 693681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693681 - Activated PI3K-delta syndrome 2 - - Disease - - - Disorder - - - - 25133428[PMID] - - phosphoinositide-3-kinase regulatory subunit 1 - PIK3R1 - - GRB1 - p85 - p85-ALPHA - phosphoinositide-3-kinase regulatory subunit alpha - PI3 kinase-associated p85 - growth factor receptor bound 1 - p85alpha - - - gene with protein product - - - - IUPHAR - 2503 - - - Ensembl - ENSG00000145675 - - - Genatlas - PIK3R1 - - - HGNC - 8979 - - - OMIM - 171833 - - - Reactome - P27986 - - - SwissProt - P27986 - - - ClinVar - PIK3R1 - - - - - 5q13.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 100075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100075 - Neuroendocrine tumor of stomach - - Disease - - - Disorder - - - - 26026117[PMID] - - ATRX chromatin remodeler - ATRX - - RAD54 homolog (S. cerevisiae) - XH2 - XNP - - - gene with protein product - - - - Ensembl - ENSG00000085224 - - - Genatlas - ATRX - - - HGNC - 886 - - - OMIM - 300032 - - - SwissProt - P46100 - - - Reactome - P46100 - - - ClinVar - ATRX - - - - - Xq21.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 693661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693661 - Activated PI3K-delta syndrome 1 - - Disease - - - Disorder - - - - 24136356[PMID] - - phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta - PIK3CD - - p110D - phosphatidylinositol 3-kinase, catalytic, delta polypeptide - phosphoinositide-3-kinase C - - - gene with protein product - - - - OMIM - 602839 - - - Reactome - O00329 - - - SwissProt - O00329 - - - Ensembl - ENSG00000171608 - - - Genatlas - PIK3CD - - - HGNC - 8977 - - - IUPHAR - 2155 - - - ClinVar - PIK3CD - - - - - 1p36.22 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 693647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693647 - Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome - - Disease - - - Disorder - - - - 32905580[PMID] - - folliculin interacting protein 1 - FNIP1 - - KIAA1961 - - - gene with protein product - - - - HGNC - 29418 - - - OMIM - 610594 - - - Ensembl - ENSG00000217128 - - - SwissProt - Q8TF40 - - - - - 5q31.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 100020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100020 - Myelodysplastic neoplasm with increased blasts type 2 - - Clinical subtype - - - Subtype of disorder - - - - 19483684[PMID]_19557078[PMID] - - tet methylcytosine dioxygenase 2 - TET2 - - FLJ20032 - ten-eleven translocation 2 - - - gene with protein product - - - - ClinVar - TET2 - - - Ensembl - ENSG00000168769 - - - Genatlas - TET2 - - - HGNC - 25941 - - - OMIM - 612839 - - - Reactome - Q6N021 - - - SwissProt - Q6N021 - - - - - 4q24 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 100019 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100019 - Myelodysplastic neoplasm with increased blasts type 1 - - Clinical subtype - - - Subtype of disorder - - - - 19483684[PMID]_19557078[PMID] - - tet methylcytosine dioxygenase 2 - TET2 - - FLJ20032 - ten-eleven translocation 2 - - - gene with protein product - - - - ClinVar - TET2 - - - Ensembl - ENSG00000168769 - - - Genatlas - TET2 - - - HGNC - 25941 - - - OMIM - 612839 - - - Reactome - Q6N021 - - - SwissProt - Q6N021 - - - - - 4q24 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 688581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688581 - Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome - - Malformation syndrome - - - Disorder - - - - 27811305[PMID]_28089922[PMID] - - AMMECR nuclear protein 1 - AMMECR1 - - - - gene with protein product - - - - ClinVar - AMMECR1 - - - Ensembl - ENSG00000101935 - - - Genatlas - AMMECR1 - - - HGNC - 467 - - - OMIM - 300195 - - - SwissProt - Q9Y4X0 - - - Reactome - Q9Y4X0 - - - - - Xq23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 688594 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688594 - Combined immunodeficiency due to RELB deficiency - - Disease - - - Disorder - - - - 39231201[PMID] - - RELB proto-oncogene, NF-kB subunit - RELB - - REL-B - - - gene with protein product - - - - HGNC - 9956 - - - Ensembl - ENSG00000104856 - - - OMIM - 604758 - - - IUPHAR - 3284 - - - SwissProt - Q01201 - - - - - 19q13.32 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 688642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688642 - Turnpenny-Fry syndrome - - Malformation syndrome - - - Disorder - - - - 30343942[PMID] - - polycomb group ring finger 2 - PCGF2 - - MEL-18 - - - gene with protein product - - - - Ensembl - ENSG00000277258 - - - OMIM - 600346 - - - SwissProt - P35227 - - - HGNC - 12929 - - - - - 17q12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 689021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689021 - Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome - - Disease - - - Disorder - - - - 28187523[PMID] - - anoctamin 5 - ANO5 - - GDD1 - - - gene with protein product - - - - Ensembl - ENSG00000171714 - - - Genatlas - ANO5 - - - HGNC - 27337 - - - OMIM - 608662 - - - Reactome - Q75V66 - - - SwissProt - Q75V66 - - - ClinVar - ANO5 - - - - - 11p14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 100032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100032 - Hypocalcified amelogenesis imperfecta - - Clinical subtype - - - Subtype of disorder - - - - 18252228[PMID] - - family with sequence similarity 83 member H - FAM83H - - FLJ46072 - - - gene with protein product - - - - Reactome - Q6ZRV2 - - - Ensembl - ENSG00000180921 - - - Genatlas - FAM83H - - - HGNC - 24797 - - - OMIM - 611927 - - - SwissProt - Q6ZRV2 - - - ClinVar - FAM83H - - - - - 8q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23375655[PMID] - - solute carrier family 24 member 4 - SLC24A4 - - NCKX4 - Na/Ca-K exchanger 4 - - - gene with protein product - - - - Ensembl - ENSG00000140090 - - - Genatlas - SLC24A4 - - - HGNC - 10978 - - - OMIM - 609840 - - - Reactome - Q8NFF2 - - - SwissProt - Q8NFF2 - - - IUPHAR - 1048 - - - ClinVar - SLC24A4 - - - - - 14q32.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24319098[PMID] - - integrin subunit beta 6 - ITGB6 - - - - gene with protein product - - - - IUPHAR - 2460 - - - ClinVar - ITGB6 - - - Ensembl - ENSG00000115221 - - - Genatlas - ITGB6 - - - HGNC - 6161 - - - OMIM - 147558 - - - Reactome - P18564 - - - SwissProt - P18564 - - - - - 2q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27412008[PMID] - - amelotin - AMTN - - RSTI689 - UNQ689 - - - gene with protein product - - - - HGNC - 33188 - - - Ensembl - ENSG00000187689 - - - SwissProt - Q6UX39 - - - OMIM - 610912 - - - Genatlas - AMTN - - - Reactome - Q6UX39 - - - ClinVar - AMTN - - - - - 4q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 100031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100031 - Hypoplastic amelogenesis imperfecta - - Clinical subtype - - - Subtype of disorder - - - - 27843125[PMID] - - acid phosphatase 4 - ACP4 - - testicular acid phosphatase - - - gene with protein product - - - - SwissProt - Q9BZG2 - - - OMIM - 606362 - - - HGNC - 14376 - - - Ensembl - ENSG00000142513 - - - Genatlas - ACPT - - - ClinVar - ACPT - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 32167558[PMID]_33652941[PMID] - - Sp6 transcription factor - SP6 - - KLF14 - epiprofin - Epfn - - - gene with protein product - - - - SwissProt - Q3SY56 - - - HGNC - 14530 - - - Ensembl - ENSG00000189120 - - - OMIM - 608613 - - - - - 17q21.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30506946[PMID] - - RELT TNF receptor - RELT - - FLJ14993 - receptor expressed in lymphoid tissues - - - gene with protein product - - - - HGNC - 13764 - - - Ensembl - ENSG00000054967 - - - SwissProt - Q969Z4 - - - IUPHAR - 1892 - - - OMIM - 611211 - - - - - 11q13.4 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 11978766[PMID]_14684688[PMID] - - enamelin - ENAM - - - - gene with protein product - - - - ClinVar - ENAM - - - Ensembl - ENSG00000132464 - - - Genatlas - ENAM - - - HGNC - 3344 - - - OMIM - 606585 - - - SwissProt - Q9NRM1 - - - Reactome - Q9NRM1 - - - - - 4q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23632796[PMID] - - laminin subunit beta 3 - LAMB3 - - BM600-125kDa - kalinin-140kDa - nicein-125kDa - - - gene with protein product - - - - ClinVar - LAMB3 - - - Ensembl - ENSG00000196878 - - - Genatlas - LAMB3 - - - HGNC - 6490 - - - OMIM - 150310 - - - Reactome - Q13751 - - - SwissProt - Q13751 - - - - - 1q32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24305999[PMID] - - integrin subunit beta 6 - ITGB6 - - - - gene with protein product - - - - IUPHAR - 2460 - - - ClinVar - ITGB6 - - - Ensembl - ENSG00000115221 - - - Genatlas - ITGB6 - - - HGNC - 6161 - - - OMIM - 147558 - - - Reactome - P18564 - - - SwissProt - P18564 - - - - - 2q24.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24858907[PMID] - - ameloblastin - AMBN - - enamel matrix protein - - - gene with protein product - - - - Reactome - Q9NP70 - - - Ensembl - ENSG00000178522 - - - Genatlas - AMBN - - - HGNC - 452 - - - OMIM - 601259 - - - SwissProt - Q9NP70 - - - ClinVar - AMBN - - - - - 4q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 100034 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100034 - Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism - - Clinical subtype - - - Subtype of disorder - - - - 15666299[PMID] - - distal-less homeobox 3 - DLX3 - - - - gene with protein product - - - - Ensembl - ENSG00000064195 - - - Genatlas - DLX3 - - - HGNC - 2916 - - - OMIM - 600525 - - - SwissProt - O60479 - - - ClinVar - DLX3 - - - - - 17q21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 100033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100033 - Hypomaturation amelogenesis imperfecta - - Clinical subtype - - - Subtype of disorder - - - - 27693231[PMID] - - G protein-coupled receptor 68 - GPR68 - - OGR1 - - - gene with protein product - - - - ClinVar - GPR68 - - - HGNC - 4519 - - - OMIM - 601404 - - - Genatlas - GPR68 - - - SwissProt - Q15743 - - - Reactome - Q15743 - - - Ensembl - ENSG00000119714 - - - IUPHAR - 114 - - - - - 14q32.11 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23251683[PMID] - - amelogenin X-linked - AMELX - - amelogenesis imperfecta 1 - - - gene with protein product - - - - ClinVar - AMELX - - - Ensembl - ENSG00000125363 - - - Genatlas - AMELX - - - HGNC - 461 - - - OMIM - 300391 - - - SwissProt - Q99217 - - - Reactome - Q99217 - - - - - Xp22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21597265[PMID] - - kallikrein related peptidase 4 - KLK4 - - enamel matrix serine proteinase 1 - EMSP - EMSP1 - KLK-L1 - PSTS - - - gene with protein product - - - - ClinVar - KLK4 - - - Ensembl - ENSG00000167749 - - - Genatlas - KLK4 - - - HGNC - 6365 - - - IUPHAR - 2374 - - - OMIM - 603767 - - - SwissProt - Q9Y5K2 - - - - - 19q13.41 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 15744043[PMID] - - matrix metallopeptidase 20 - MMP20 - - enamelysin - - - gene with protein product - - - - ClinVar - MMP20 - - - IUPHAR - 1643 - - - OMIM - 604629 - - - Reactome - O60882 - - - SwissProt - O60882 - - - Ensembl - ENSG00000137674 - - - Genatlas - MMP20 - - - HGNC - 7167 - - - - - 11q22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 19853237[PMID] - - WD repeat domain 72 - WDR72 - - FLJ38736 - - - gene with protein product - - - - ClinVar - WDR72 - - - HGNC - 26790 - - - OMIM - 613214 - - - SwissProt - Q3MJ13 - - - Ensembl - ENSG00000166415 - - - Genatlas - WDR72 - - - - - 15q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 22901946[PMID] - - odontogenesis associated phosphoprotein - ODAPH - - amelogenesis imperfecta type IIA4 - FLJ23657 - AI2A4 - - - gene with protein product - - - - Ensembl - ENSG00000174792 - - - Genatlas - C4orf26 - - - HGNC - 26300 - - - OMIM - 614829 - - - SwissProt - Q17RF5 - - - ClinVar - C4orf26 - - - - - 4q21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 24621671[PMID] - - solute carrier family 24 member 4 - SLC24A4 - - NCKX4 - Na/Ca-K exchanger 4 - - - gene with protein product - - - - Ensembl - ENSG00000140090 - - - Genatlas - SLC24A4 - - - HGNC - 10978 - - - OMIM - 609840 - - - Reactome - Q8NFF2 - - - SwissProt - Q8NFF2 - - - IUPHAR - 1048 - - - ClinVar - SLC24A4 - - - - - 14q32.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 689231 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689231 - IFIH1-related hereditary spastic paraplegia - - Disease - - - Disorder - - - - 31427910[PMID] - - interferon induced with helicase C domain 1 - IFIH1 - - Hlcd - IDDM19 - MDA-5 - MDA5 - helicard - melanoma differentiation-associated gene 5 - - - gene with protein product - - - - IUPHAR - 2921 - - - Ensembl - ENSG00000115267 - - - Genatlas - IFIH1 - - - HGNC - 18873 - - - OMIM - 606951 - - - Reactome - Q9BYX4 - - - SwissProt - Q9BYX4 - - - ClinVar - IFIH1 - - - - - 2q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 689234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689234 - RNASEH2B-related hereditary spastic paraplegia - - Disease - - - Disorder - - - - 38229641[PMID] - - ribonuclease H2 subunit B - RNASEH2B - - FLJ11712 - - - gene with protein product - - - - ClinVar - RNASEH2B - - - Ensembl - ENSG00000136104 - - - Genatlas - RNASEH2B - - - HGNC - 25671 - - - OMIM - 610326 - - - SwissProt - Q5TBB1 - - - - - 13q14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 689397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689397 - Poirier-Bienvenu neurodevelopmental syndrome - - Malformation syndrome - - - Disorder - - - - 34740143[PMID] - - casein kinase 2 beta - CSNK2B - - Ckb1 - Ckb2 - - - gene with protein product - - - - HGNC - 2460 - - - Ensembl - ENSG00000204435 - - - SwissProt - P67870 - - - OMIM - 115441 - - - Genatlas - CSNK2B - - - Reactome - P67870 - - - IUPHAR - 1551 - - - ClinVar - CSNK2B - - - - - 6p21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 689408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689408 - Shashi-Pena syndrome - - Malformation syndrome - - - Disorder - - - - 27693232[PMID] - - ASXL transcriptional regulator 2 - ASXL2 - - FLJ10898 - ASXH2 - KIAA1685 - - - gene with protein product - - - - Ensembl - ENSG00000143970 - - - OMIM - 612991 - - - SwissProt - Q76L83 - - - HGNC - 23805 - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 689430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689430 - Adenoid ameloblastoma - - Disease - - - Disorder - - - - 35840721[PMID] - - catenin beta 1 - CTNNB1 - - armadillo - beta-catenin - - - gene with protein product - - - - ClinVar - CTNNB1 - - - Ensembl - ENSG00000168036 - - - Genatlas - CTNNB1 - - - HGNC - 2514 - - - OMIM - 116806 - - - Reactome - P35222 - - - SwissProt - P35222 - - - - - 3p22.1 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 100044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100044 - Autosomal dominant intermediate Charcot-Marie-Tooth disease type B - - Disease - - - Disorder - - - - 15731758[PMID]_20614582[PMID] - - dynamin 2 - DNM2 - - CMT2M - CMTDI1 - CMTDIB - DI-CMTB - DYN2 - DYNII - cytoskeletal protein - dynamin II - - - gene with protein product - - - - ClinVar - DNM2 - - - Ensembl - ENSG00000079805 - - - Genatlas - DNM2 - - - HGNC - 2974 - - - OMIM - 602378 - - - Reactome - P50570 - - - SwissProt - P50570 - - - - - 19p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 100045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100045 - Autosomal dominant intermediate Charcot-Marie-Tooth disease type C - - Disease - - - Disorder - - - - 16429158[PMID] - - tyrosyl-tRNA synthetase 1 - YARS1 - - YRS - YTS - tyrRS - tyrosine tRNA ligase 1, cytoplasmic - - - gene with protein product - - - - Ensembl - ENSG00000134684 - - - Genatlas - YARS - - - HGNC - 12840 - - - OMIM - 603623 - - - Reactome - P54577 - - - SwissProt - P54577 - - - ClinVar - YARS - - - - - 1p35.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 689829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689829 - Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome - - Disease - - - Disorder - - - - 37092537[PMID] - - retinoic acid receptor beta - RARB - - HAP - NR1B2 - RRB2 - RARbeta - RAR-beta - - - gene with protein product - - - - Ensembl - ENSG00000077092 - - - Genatlas - RARB - - - HGNC - 9865 - - - IUPHAR - 591 - - - OMIM - 180220 - - - Reactome - P10826 - - - SwissProt - P10826 - - - ClinVar - RARB - - - - - 3p24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 100046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100046 - Autosomal dominant intermediate Charcot-Marie-Tooth disease type D - - Disease - - - Disorder - - - - 10406984[PMID] - - myelin protein zero - MPZ - - CMT2I - CMT2J - HMSNIB - P0 - - - gene with protein product - - - - ClinVar - MPZ - - - Ensembl - ENSG00000158887 - - - Genatlas - MPZ - - - HGNC - 7225 - - - OMIM - 159440 - - - SwissProt - P25189 - - - - - 1q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 689822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689822 - Structural heart defects-renal anomalies syndrome - - Malformation syndrome - - - Disorder - - - - 37186866[PMID]_34612517[PMID] - - transmembrane protein 260 - TMEM260 - - FLJ20392 - - - gene with protein product - - - - Ensembl - ENSG00000070269 - - - OMIM - 617449 - - - SwissProt - Q9NX78 - - - HGNC - 20185 - - - - - 14q22.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 100050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100050 - Hereditary angioedema type 1 - - Etiological subtype - - - Subtype of disorder - - - - 24456027[PMID] - - serpin family G member 1 - SERPING1 - - C1-inhibitor - C1-INH - C1IN - HAE1 - HAE2 - angioedema, hereditary - plasma protease C1 inhibitor - C1INH - - - gene with protein product - - - - ClinVar - SERPING1 - - - Ensembl - ENSG00000149131 - - - Genatlas - SERPING1 - - - HGNC - 1228 - - - OMIM - 606860 - - - Reactome - P05155 - - - SwissProt - P05155 - - - - - 11q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 647667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647667 - Mandibuloacral dysplasia associated to MTX2 - - Malformation syndrome - - - Disorder - - - - 36269149[PMID] - - metaxin 2 - MTX2 - - - - gene with protein product - - - - SwissProt - O75431 - - - OMIM - 608555 - - - HGNC - 7506 - - - Ensembl - ENSG00000128654 - - - - - 2q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 647676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647676 - Multiple epiphyseal dysplasia type 7 - - Disease - - - Disorder - - - - 28742282[PMID] - - calcium activated nucleotidase 1 - CANT1 - - SCAN-1 - SHAPY - Soluble Ca-Activated Nucleotidase, isozyme 1 - apyrase 1 homolog (C. lectularius) - - - gene with protein product - - - - Reactome - Q8WVQ1 - - - Ensembl - ENSG00000171302 - - - Genatlas - CANT1 - - - HGNC - 19721 - - - OMIM - 613165 - - - SwissProt - Q8WVQ1 - - - ClinVar - CANT1 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 646113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646113 - Intermediate collagen VI-related muscular dystrophy - - Disease - - - Disorder - - - - 21496625[PMID] - - collagen type VI alpha 1 chain - COL6A1 - - - - gene with protein product - - - - ClinVar - COL6A1 - - - SwissProt - P12109 - - - Ensembl - ENSG00000142156 - - - Genatlas - COL6A1 - - - HGNC - 2211 - - - OMIM - 120220 - - - Reactome - P12109 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301676[PMID] - - collagen type VI alpha 2 chain - COL6A2 - - - - gene with protein product - - - - ClinVar - COL6A2 - - - Ensembl - ENSG00000142173 - - - Genatlas - COL6A2 - - - HGNC - 2212 - - - OMIM - 120240 - - - Reactome - P12110 - - - SwissProt - P12110 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24271325[PMID] - - collagen type VI alpha 3 chain - COL6A3 - - - - gene with protein product - - - - ClinVar - COL6A3 - - - Ensembl - ENSG00000163359 - - - Genatlas - COL6A3 - - - HGNC - 2213 - - - OMIM - 120250 - - - Reactome - P12111 - - - SwissProt - P12111 - - - - - 2q37.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 646278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646278 - CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome - - Disease - - - Disorder - - - - 35063350[PMID] - - cyclin dependent kinase 13 - CDK13 - - CDC2L - CHED - cholinesterase-related cell division controller - KIAA1791 - - - gene with protein product - - - - IUPHAR - 1966 - - - ClinVar - CDK13 - - - HGNC - 1733 - - - Ensembl - ENSG00000065883 - - - SwissProt - Q14004 - - - OMIM - 603309 - - - Genatlas - CDK13 - - - Reactome - Q14004 - - - - - 7p14.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 100008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100008 - ACys amyloidosis - - Clinical subtype - - - Subtype of disorder - - - - 2541223[PMID] - - cystatin C - CST3 - - - - gene with protein product - - - - ClinVar - CST3 - - - Ensembl - ENSG00000101439 - - - Genatlas - CST3 - - - HGNC - 2475 - - - OMIM - 604312 - - - Reactome - P01034 - - - SwissProt - P01034 - - - - - 20p11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 100006 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100006 - ABeta amyloidosis, Dutch type - - Clinical subtype - - - Subtype of disorder - - - - 24870607[PMID] - - amyloid beta precursor protein - APP - - peptidase nexin-II - alpha-sAPP - - - gene with protein product - - - - Ensembl - ENSG00000142192 - - - Genatlas - APP - - - HGNC - 620 - - - OMIM - 104760 - - - Reactome - P05067 - - - SwissProt - P05067 - - - ClinVar - APP - - - - - 21q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99989 - Intermediate DEND syndrome - - Disease - - - Disorder - - - - - - potassium inwardly rectifying channel subfamily J member 11 - KCNJ11 - - ATP-sensitive inward rectifier potassium channel 11 - BIR - Kir6.2 - beta-cell inward rectifier - - - gene with protein product - - - - Ensembl - ENSG00000187486 - - - Genatlas - KCNJ11 - - - HGNC - 6257 - - - IUPHAR - 442 - - - OMIM - 600937 - - - Reactome - Q14654 - - - SwissProt - Q14654 - - - ClinVar - KCNJ11 - - - - - 11p15.1 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 99977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99977 - Squamous cell carcinoma of the esophagus - - Disease - - - Disorder - - - - 11956080[PMID]_22213016[PMID] - - WW domain containing oxidoreductase - WWOX - - WOX1 - short chain dehydrogenase/reductase family 41C, member 1 - FOR - SDR41C1 - - - gene with protein product - - - - Ensembl - ENSG00000186153 - - - Genatlas - WWOX - - - HGNC - 12799 - - - OMIM - 605131 - - - Reactome - Q9NZC7 - - - SwissProt - Q9NZC7 - - - ClinVar - WWOX - - - - - 16q23.1-q23.2 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 12154016[PMID] - - ring finger protein 6 - RNF6 - - DKFZp686P0776 - RING-H2 protein RNF-6 - - - gene with protein product - - - - ClinVar - RNF6 - - - HGNC - 10069 - - - OMIM - 604242 - - - Genatlas - RNF6 - - - SwissProt - Q9Y252 - - - Reactome - Q9Y252 - - - Ensembl - ENSG00000127870 - - - - - 13q12.13 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 17680270[PMID] - - transforming growth factor beta receptor 2 - TGFBR2 - - TBRII - TBR-ii - - - gene with protein product - - - - ClinVar - TGFBR2 - - - Ensembl - ENSG00000163513 - - - Genatlas - TGFBR2 - - - HGNC - 11773 - - - IUPHAR - 1795 - - - OMIM - 190182 - - - Reactome - P37173 - - - SwissProt - P37173 - - - - - 3p24.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 10213508[PMID] - - DLEC1 cilia and flagella associated protein - DLEC1 - - FAP81 - CFAP81 - DLC1 - cilia and flagella associated protein 81 - - - gene with protein product - - - - Ensembl - ENSG00000008226 - - - OMIM - 604050 - - - SwissProt - Q9Y238 - - - Genatlas - DLEC1 - - - HGNC - 2899 - - - ClinVar - DLEC1 - - - - - 3p22.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 99976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99976 - Adenocarcinoma of the oesophagus and oesophagogastric junction - - Disease - - - Disorder - - - - 27468182[PMID] - - erb-b2 receptor tyrosine kinase 2 - ERBB2 - - HER2 - NEU - HER-2 - CD340 - neuro/glioblastoma derived oncogene homolog - human epidermal growth factor receptor 2 - metastatic lymph node gene 19 - c-ERB-2 - p185(erbB2) - MLN-19 - c-ERB2 - - - gene with protein product - - - - SwissProt - P04626 - - - ClinVar - ERBB2 - - - OMIM - 164870 - - - IUPHAR - 2019 - - - Ensembl - ENSG00000141736 - - - Genatlas - ERBB2 - - - HGNC - 3430 - - - - - 17q12 - 1 - - - - - Biomarker tested in - - - Assessed - - - - - - 99971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99971 - Well-differentiated liposarcoma - - Histopathological subtype - - - Subtype of disorder - - - - - - cyclin dependent kinase 4 - CDK4 - - PSK-J3 - - - gene with protein product - - - - Ensembl - ENSG00000135446 - - - Genatlas - CDK4 - - - HGNC - 1773 - - - IUPHAR - 1976 - - - OMIM - 123829 - - - Reactome - P11802 - - - SwissProt - P11802 - - - ClinVar - CDK4 - - - - - 12q14.1 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - high mobility group AT-hook 2 - HMGA2 - - BABL - LIPO - - - gene with protein product - - - - Genatlas - HMGA2 - - - HGNC - 5009 - - - OMIM - 600698 - - - Reactome - P52926 - - - SwissProt - P52926 - - - Ensembl - ENSG00000149948 - - - ClinVar - HMGA2 - - - - - 12q14.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - MDM2 proto-oncogene - MDM2 - - HDM2 - MGC5370 - - - gene with protein product - - - - Ensembl - ENSG00000135679 - - - Genatlas - MDM2 - - - HGNC - 6973 - - - OMIM - 164785 - - - Reactome - Q00987 - - - SwissProt - Q00987 - - - IUPHAR - 3136 - - - ClinVar - MDM2 - - - - - 12q15 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 99970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99970 - Dedifferentiated liposarcoma - - Histopathological subtype - - - Subtype of disorder - - - - - - cyclin dependent kinase 4 - CDK4 - - PSK-J3 - - - gene with protein product - - - - Ensembl - ENSG00000135446 - - - Genatlas - CDK4 - - - HGNC - 1773 - - - IUPHAR - 1976 - - - OMIM - 123829 - - - Reactome - P11802 - - - SwissProt - P11802 - - - ClinVar - CDK4 - - - - - 12q14.1 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - high mobility group AT-hook 2 - HMGA2 - - BABL - LIPO - - - gene with protein product - - - - Genatlas - HMGA2 - - - HGNC - 5009 - - - OMIM - 600698 - - - Reactome - P52926 - - - SwissProt - P52926 - - - Ensembl - ENSG00000149948 - - - ClinVar - HMGA2 - - - - - 12q14.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - MDM2 proto-oncogene - MDM2 - - HDM2 - MGC5370 - - - gene with protein product - - - - Ensembl - ENSG00000135679 - - - Genatlas - MDM2 - - - HGNC - 6973 - - - OMIM - 164785 - - - Reactome - Q00987 - - - SwissProt - Q00987 - - - IUPHAR - 3136 - - - ClinVar - MDM2 - - - - - 12q15 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 99967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99967 - Myxoid/round cell liposarcoma - - Histopathological subtype - - - Subtype of disorder - - - - - - FUS RNA binding protein - FUS - - FUS1 - HNRNPP2 - TLS - heterogeneous nuclear ribonucleoprotein P2 - hnRNP-P2 - translocated in liposarcoma - - - gene with protein product - - - - ClinVar - FUS - - - Ensembl - ENSG00000089280 - - - Genatlas - FUS - - - HGNC - 4010 - - - OMIM - 137070 - - - Reactome - P35637 - - - SwissProt - P35637 - - - - - 16p11.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - DNA damage inducible transcript 3 - DDIT3 - - C/EBP homologous protein - C/EBP zeta - CHOP - CHOP10 - GADD153 - growth arrest and DNA-damage-inducible gene - - - gene with protein product - - - - Ensembl - ENSG00000175197 - - - Genatlas - DDIT3 - - - HGNC - 2726 - - - OMIM - 126337 - - - Reactome - P35638 - - - SwissProt - P35638 - - - ClinVar - DDIT3 - - - - - 12q13.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 99966 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99966 - Atypical teratoid rhabdoid tumor - - Disease - - - Disorder - - - - - - SWI/SNF related BAF chromatin remodeling complex subunit B1 - SMARCB1 - - BAF47 - Ini1 - PPP1R144 - RDT - Sfh1p - Snr1 - hSNFS - integrase interactor 1 - malignant rhabdoid tumor suppressor - protein phosphatase 1, regulatory subunit 144 - sucrose nonfermenting, yeast, homolog-like 1 - INI-1 - SNF5 - - - gene with protein product - - - - ClinVar - SMARCB1 - - - Reactome - Q12824 - - - SwissProt - Q12824 - - - Ensembl - ENSG00000099956 - - - Genatlas - SMARCB1 - - - HGNC - 11103 - - - OMIM - 601607 - - - - - 22q11.23 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 99961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99961 - Benign recurrent intrahepatic cholestasis type 2 - - Clinical subtype - - - Subtype of disorder - - - - - - ATP binding cassette subfamily B member 11 - ABCB11 - - ABC member 16, MDR/TAP subfamily - ABC16 - PFIC-2 - PGY4 - SPGP - - - gene with protein product - - - - IUPHAR - 778 - - - Ensembl - ENSG00000073734 - - - Genatlas - ABCB11 - - - HGNC - 42 - - - OMIM - 603201 - - - Reactome - O95342 - - - SwissProt - O95342 - - - ClinVar - ABCB11 - - - - - 2q31.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99960 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99960 - Benign recurrent intrahepatic cholestasis type 1 - - Clinical subtype - - - Subtype of disorder - - - - - - ATPase phospholipid transporting 8B1 - ATP8B1 - - ATPIC - PFIC - - - gene with protein product - - - - IUPHAR - 856 - - - Ensembl - ENSG00000081923 - - - Genatlas - ATP8B1 - - - HGNC - 3706 - - - OMIM - 602397 - - - Reactome - O43520 - - - SwissProt - O43520 - - - ClinVar - ATP8B1 - - - - - 18q21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 643538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643538 - Hao-Fountain syndrome due to USP7 mutation - - Etiological subtype - - - Subtype of disorder - - - - 30679821[PMID] - - ubiquitin specific peptidase 7 - USP7 - - - - gene with protein product - - - - HGNC - 12630 - - - SwissProt - Q93009 - - - ClinVar - USP7 - - - OMIM - 602519 - - - Ensembl - ENSG00000187555 - - - Reactome - Q93009 - - - Genatlas - USP7 - - - - - 16p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 643503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643503 - Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome - - Disease - - - Disorder - - - - 32643838[PMID] - - ABL proto-oncogene 1, non-receptor tyrosine kinase - ABL1 - - JTK7 - c-ABL - p150 - - - gene with protein product - - - - ClinVar - ABL1 - - - OMIM - 189980 - - - Reactome - P00519 - - - SwissProt - P00519 - - - Ensembl - ENSG00000097007 - - - Genatlas - ABL1 - - - HGNC - 76 - - - IUPHAR - 1923 - - - - - 9q34.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99955 - Charcot-Marie-Tooth disease type 4B1 - - Disease - - - Disorder - - - - 20301641[PMID] - - myotubularin related protein 2 - MTMR2 - - KIAA1073 - phosphatidylinositol-3-phosphatase - phosphoinositide-3-phosphatase - - - gene with protein product - - - - ClinVar - MTMR2 - - - Ensembl - ENSG00000087053 - - - Genatlas - MTMR2 - - - HGNC - 7450 - - - OMIM - 603557 - - - Reactome - Q13614 - - - SwissProt - Q13614 - - - - - 11q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99956 - Charcot-Marie-Tooth disease type 4B2 - - Disease - - - Disorder - - - - 20301641[PMID] - - SET binding factor 2 - SBF2 - - DENND7B - KIAA1766 - MTMR13 - myotubularin related 13 - - - gene with protein product - - - - Reactome - Q86WG5 - - - ClinVar - SBF2 - - - Ensembl - ENSG00000133812 - - - Genatlas - SBF2 - - - HGNC - 2135 - - - OMIM - 607697 - - - SwissProt - Q86WG5 - - - - - 11p15.4 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99948 - Charcot-Marie-Tooth disease type 4A - - Disease - - - Disorder - - - - 20301711[PMID] - - ganglioside induced differentiation associated protein 1 - GDAP1 - - CMT2K - CMT4 - - - gene with protein product - - - - ClinVar - GDAP1 - - - Ensembl - ENSG00000104381 - - - Genatlas - GDAP1 - - - HGNC - 15968 - - - OMIM - 606598 - - - SwissProt - Q8TB36 - - - - - 8q21.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99947 - Autosomal dominant Charcot-Marie-Tooth disease type 2A2 - - Disease - - - Disorder - - - - 20301462[PMID] - - mitofusin 2 - MFN2 - - CMT2A2 - CPRP1 - KIAA0214 - MARF - - - gene with protein product - - - - Ensembl - ENSG00000116688 - - - Genatlas - MFN2 - - - HGNC - 16877 - - - OMIM - 608507 - - - Reactome - O95140 - - - SwissProt - O95140 - - - IUPHAR - 3131 - - - ClinVar - MFN2 - - - - - 1p36.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99950 - Charcot-Marie-Tooth disease type 4D - - Disease - - - Disorder - - - - 10831399[PMID]_20301641[PMID] - - N-myc downstream regulated 1 - NDRG1 - - DRG1 - NDR1 - RTP - TDD5 - - - gene with protein product - - - - Reactome - Q92597 - - - ClinVar - NDRG1 - - - Ensembl - ENSG00000104419 - - - Genatlas - NDRG1 - - - HGNC - 7679 - - - OMIM - 605262 - - - SwissProt - Q92597 - - - - - 8q24.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99949 - Charcot-Marie-Tooth disease type 4C - - Disease - - - Disorder - - - - 20301514[PMID] - - SH3 domain and tetratricopeptide repeats 2 - SH3TC2 - - CMT4C - KIAA1985 - - - gene with protein product - - - - ClinVar - SH3TC2 - - - Ensembl - ENSG00000169247 - - - Genatlas - SH3TC2 - - - HGNC - 29427 - - - OMIM - 608206 - - - SwissProt - Q8TF17 - - - - - 5q32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99952 - Charcot-Marie-Tooth disease type 4F - - Disease - - - Disorder - - - - 20301641[PMID] - - periaxin - PRX - - KIAA1620 - - - gene with protein product - - - - ClinVar - PRX - - - Ensembl - ENSG00000105227 - - - Genatlas - PRX - - - HGNC - 13797 - - - OMIM - 605725 - - - SwissProt - Q9BXM0 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99951 - Charcot-Marie-Tooth disease type 4E - - Disease - - - Disorder - - - - 20301641[PMID] - - early growth response 2 - EGR2 - - Krox-20 homolog, Drosophila - - - gene with protein product - - - - ClinVar - EGR2 - - - Ensembl - ENSG00000122877 - - - Genatlas - EGR2 - - - HGNC - 3239 - - - OMIM - 129010 - - - Reactome - P11161 - - - SwissProt - P11161 - - - - - 10q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99954 - Charcot-Marie-Tooth disease type 4H - - Disease - - - Disorder - - - - 23926620[PMID]_20301641[PMID] - - FYVE, RhoGEF and PH domain containing 4 - FGD4 - - CMT4H - FRABP - Frabin - ZFYVE6 - frabin - - - gene with protein product - - - - Ensembl - ENSG00000139132 - - - Genatlas - FGD4 - - - HGNC - 19125 - - - OMIM - 611104 - - - Reactome - Q96M96 - - - SwissProt - Q96M96 - - - ClinVar - FGD4 - - - - - 12p11.21 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 99953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99953 - Charcot-Marie-Tooth disease type 4G - - Disease - - - Disorder - - - - 19536174[PMID] - - hexokinase 1 - HK1 - - HKI - - - gene with protein product - - - - ClinVar - HK1 - - - Ensembl - ENSG00000156515 - - - Genatlas - HK1 - - - HGNC - 4922 - - - OMIM - 142600 - - - Reactome - P19367 - - - SwissProt - P19367 - - - - - 10q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99940 - Autosomal dominant Charcot-Marie-Tooth disease type 2F - - Disease - - - Disorder - - - - 20301462[PMID] - - heat shock protein family B (small) member 1 - HSPB1 - - CMT2F - HSP27 - HSP28 - Hs.76067 - Hsp25 - - - gene with protein product - - - - ClinVar - HSPB1 - - - Ensembl - ENSG00000106211 - - - Genatlas - HSPB1 - - - HGNC - 5246 - - - OMIM - 602195 - - - Reactome - P04792 - - - SwissProt - P04792 - - - - - 7q11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99939 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99939 - Autosomal dominant Charcot-Marie-Tooth disease type 2E - - Disease - - - Disorder - - - - 20301462[PMID] - - neurofilament light chain - NEFL - - CMT1F - CMT2E - NF68 - NFL - PPP1R110 - protein phosphatase 1, regulatory subunit 110 - - - gene with protein product - - - - Ensembl - ENSG00000277586 - - - Genatlas - NEFL - - - HGNC - 7739 - - - OMIM - 162280 - - - Reactome - P07196 - - - SwissProt - P07196 - - - ClinVar - NEFL - - - - - 8p21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99942 - Autosomal dominant Charcot-Marie-Tooth disease type 2I - - Disease - - - Disorder - - - - 20301462[PMID] - - myelin protein zero - MPZ - - CMT2I - CMT2J - HMSNIB - P0 - - - gene with protein product - - - - ClinVar - MPZ - - - Ensembl - ENSG00000158887 - - - Genatlas - MPZ - - - HGNC - 7225 - - - OMIM - 159440 - - - SwissProt - P25189 - - - - - 1q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99944 - Autosomal dominant Charcot-Marie-Tooth disease type 2K - - Disease - - - Disorder - - - - 20301462[PMID] - - ganglioside induced differentiation associated protein 1 - GDAP1 - - CMT2K - CMT4 - - - gene with protein product - - - - ClinVar - GDAP1 - - - Ensembl - ENSG00000104381 - - - Genatlas - GDAP1 - - - HGNC - 15968 - - - OMIM - 606598 - - - SwissProt - Q8TB36 - - - - - 8q21.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99943 - Autosomal dominant Charcot-Marie-Tooth disease type 2J - - Disease - - - Disorder - - - - 20301462[PMID] - - myelin protein zero - MPZ - - CMT2I - CMT2J - HMSNIB - P0 - - - gene with protein product - - - - ClinVar - MPZ - - - Ensembl - ENSG00000158887 - - - Genatlas - MPZ - - - HGNC - 7225 - - - OMIM - 159440 - - - SwissProt - P25189 - - - - - 1q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99946 - Autosomal dominant Charcot-Marie-Tooth disease type 2A1 - - Disease - - - Disorder - - - - 11389829[PMID]_20301462[PMID] - - kinesin family member 1B - KIF1B - - HMSNII - KIAA0591 - KLP - Charcot-Marie-Tooth neuropathy type II - - - gene with protein product - - - - Reactome - O60333 - - - ClinVar - KIF1B - - - Ensembl - ENSG00000054523 - - - Genatlas - KIF1B - - - HGNC - 16636 - - - OMIM - 605995 - - - SwissProt - O60333 - - - - - 1p36.22 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 99945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99945 - Autosomal dominant Charcot-Marie-Tooth disease type 2L - - Disease - - - Disorder - - - - 20301462[PMID] - - heat shock protein family B (small) member 8 - HSPB8 - - CMT2L - E2IG1 - H11 - HSP22 - HspB8 - - - gene with protein product - - - - ClinVar - HSPB8 - - - Ensembl - ENSG00000152137 - - - Genatlas - HSPB8 - - - HGNC - 30171 - - - OMIM - 608014 - - - Reactome - Q9UJY1 - - - SwissProt - Q9UJY1 - - - - - 12q24.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99936 - Autosomal dominant Charcot-Marie-Tooth disease type 2B - - Disease - - - Disorder - - - - 20301462[PMID] - - RAB7A, member RAS oncogene family - RAB7A - - - - gene with protein product - - - - ClinVar - RAB7A - - - Ensembl - ENSG00000075785 - - - Genatlas - RAB7A - - - HGNC - 9788 - - - OMIM - 602298 - - - Reactome - P51149 - - - SwissProt - P51149 - - - - - 3q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99937 - Autosomal dominant Charcot-Marie-Tooth disease type 2C - - Disease - - - Disorder - - - - 20301462[PMID] - - transient receptor potential cation channel subfamily V member 4 - TRPV4 - - CMT2C - OTRPC4 - TRP12 - VR-OAC - VRL-2 - VROAC - osmosensitive transient receptor potential channel 4 - - - gene with protein product - - - - Ensembl - ENSG00000111199 - - - Genatlas - TRPV4 - - - HGNC - 18083 - - - IUPHAR - 510 - - - OMIM - 605427 - - - Reactome - Q9HBA0 - - - SwissProt - Q9HBA0 - - - ClinVar - TRPV4 - - - - - 12q24.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99938 - Autosomal dominant Charcot-Marie-Tooth disease type 2D - - Disease - - - Disorder - - - - 20301462[PMID] - - glycyl-tRNA synthetase 1 - GARS1 - - DSMAV - GlyRS - SMAD1 - glycine tRNA ligase - - - gene with protein product - - - - ClinVar - GARS - - - Ensembl - ENSG00000106105 - - - Genatlas - GARS - - - HGNC - 4162 - - - OMIM - 600287 - - - Reactome - P41250 - - - SwissProt - P41250 - - - - - 7p14.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 648562 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648562 - Ferroportin disease - - Disease - - - Disorder - - - - 34601591[PMID] - - solute carrier family 40 member 1 - SLC40A1 - - FPN1 - HFE4 - IREG1 - MTP1 - ferroportin 1 - FPN - iron regulated gene 1 - SLC40 iron transporter - - - gene with protein product - - - - Ensembl - ENSG00000138449 - - - Genatlas - SLC40A1 - - - HGNC - 10909 - - - OMIM - 604653 - - - Reactome - Q9NP59 - - - SwissProt - Q9NP59 - - - IUPHAR - 1194 - - - ClinVar - SLC40A1 - - - - - 2q32.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 648581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648581 - Digenic hemochromatosis - - Disease - - - Disorder - - - - 34601591[PMID] - - homeostatic iron regulator - HFE - - HLA-H - high Fe - HFE1 - - - gene with protein product - - - - OMIM - 613609 - - - SwissProt - Q30201 - - - Ensembl - ENSG00000010704 - - - Genatlas - HFE - - - HGNC - 4886 - - - Reactome - Q30201 - - - ClinVar - HFE - - - - - 6p22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35449524[PMID] - - hemojuvelin BMP co-receptor - HJV - - HFE2A - HJV - JH - RGMC - haemojuvelin - hemojuvelin - repulsive guidance molecule c - - - gene with protein product - - - - Ensembl - ENSG00000168509 - - - Genatlas - HFE2 - - - HGNC - 4887 - - - OMIM - 608374 - - - Reactome - Q6ZVN8 - - - SwissProt - Q6ZVN8 - - - ClinVar - HFE2 - - - - - 1q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35449524[PMID] - - hepcidin antimicrobial peptide - HAMP - - HEPC - HFE2B - LEAP-1 - LEAP1 - - - gene with protein product - - - - ClinVar - HAMP - - - Ensembl - ENSG00000105697 - - - Genatlas - HAMP - - - HGNC - 15598 - - - OMIM - 606464 - - - SwissProt - P81172 - - - - - 19q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26799139[PMID] - - transferrin receptor 2 - TFR2 - - HFE3 - TFRC2 - - - gene with protein product - - - - Reactome - Q9UP52 - - - ClinVar - TFR2 - - - Genatlas - TFR2 - - - HGNC - 11762 - - - OMIM - 604720 - - - SwissProt - Q9UP52 - - - Ensembl - ENSG00000106327 - - - - - 7q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99916 - Malignant Sertoli-Leydig cell tumor of the ovary - - Disease - - - Disorder - - - - 24761742[PMID]_21205968[PMID]_21882293[PMID] - - dicer 1, ribonuclease III - DICER1 - - Dicer - HERNA - K12H4.8-LIKE - KIAA0928 - dicer 1, double-stranded RNA-specific endoribonuclease - - - gene with protein product - - - - ClinVar - DICER1 - - - Ensembl - ENSG00000100697 - - - Genatlas - DICER1 - - - HGNC - 17098 - - - OMIM - 606241 - - - Reactome - Q9UPY3 - - - SwissProt - Q9UPY3 - - - - - 14q32.13 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 99915 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99915 - Malignant granulosa cell tumor of the ovary - - Disease - - - Disorder - - - - 19516027[PMID] - - forkhead box L2 - FOXL2 - - BPES1 - - - gene with protein product - - - - Ensembl - ENSG00000183770 - - - Genatlas - FOXL2 - - - HGNC - 1092 - - - ClinVar - FOXL2 - - - OMIM - 605597 - - - SwissProt - P58012 - - - Reactome - P58012 - - - - - 3q22.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 24761742[PMID]_21205968[PMID]_21882293[PMID] - - dicer 1, ribonuclease III - DICER1 - - Dicer - HERNA - K12H4.8-LIKE - KIAA0928 - dicer 1, double-stranded RNA-specific endoribonuclease - - - gene with protein product - - - - ClinVar - DICER1 - - - Ensembl - ENSG00000100697 - - - Genatlas - DICER1 - - - HGNC - 17098 - - - OMIM - 606241 - - - Reactome - Q9UPY3 - - - SwissProt - Q9UPY3 - - - - - 14q32.13 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 99914 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99914 - Gynandroblastoma - - Disease - - - Disorder - - - - 24761742[PMID]_21205968[PMID]_21882293[PMID] - - dicer 1, ribonuclease III - DICER1 - - Dicer - HERNA - K12H4.8-LIKE - KIAA0928 - dicer 1, double-stranded RNA-specific endoribonuclease - - - gene with protein product - - - - ClinVar - DICER1 - - - Ensembl - ENSG00000100697 - - - Genatlas - DICER1 - - - HGNC - 17098 - - - OMIM - 606241 - - - Reactome - Q9UPY3 - - - SwissProt - Q9UPY3 - - - - - 14q32.13 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 647815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647815 - Keratitis fugax hereditaria - - Disease - - - Disorder - - - - 36275641[PMID] - - NLR family pyrin domain containing 3 - NLRP3 - - AGTAVPRL - AII - AVP - CLR1.1 - Cryopyrin - FCAS - FCU - MWS - NALP3 - PYPAF1 - nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3 - - - gene with protein product - - - - Ensembl - ENSG00000162711 - - - Genatlas - NLRP3 - - - HGNC - 16400 - - - OMIM - 606416 - - - Reactome - Q96P20 - - - SwissProt - Q96P20 - - - IUPHAR - 1770 - - - ClinVar - NLRP3 - - - - - 1q44 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99901 - Acyl-CoA dehydrogenase 9 deficiency - - Disease - - - Disorder - - - - 17564966[PMID] - - acyl-CoA dehydrogenase family member 9 - ACAD9 - - MGC14452 - NPD002 - - - gene with protein product - - - - ClinVar - ACAD9 - - - Ensembl - ENSG00000177646 - - - Genatlas - ACAD9 - - - HGNC - 21497 - - - OMIM - 611103 - - - Reactome - Q9H845 - - - SwissProt - Q9H845 - - - - - 3q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 647811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647811 - Cardiac-urogenital syndrome - - Disease - - - Disorder - - - - 36695166[PMID] - - myelin regulatory factor - MYRF - - pqn-47 - MRF - Ndt80 - myelin gene regulatory factor - - - gene with protein product - - - - Ensembl - ENSG00000124920 - - - OMIM - 608329 - - - HGNC - 1181 - - - Genatlas - MYRF - - - ClinVar - MYRF - - - SwissProt - Q9Y2G1 - - - - - 11q12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 647804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647804 - Combined immunodeficiency due to FCHO1 deficiency - - Disease - - - Disorder - - - - 32098969[PMID] - - FCH and mu domain containing endocytic adaptor 1 - FCHO1 - - KIAA0290 - - - gene with protein product - - - - Ensembl - ENSG00000130475 - - - OMIM - 613437 - - - Reactome - O14526 - - - SwissProt - O14526 - - - HGNC - 29002 - - - - - 19p13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 647834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647834 - SLC40A1-related hemochromatosis - - Disease - - - Disorder - - - - 11431687[PMID]_34601591[PMID] - - solute carrier family 40 member 1 - SLC40A1 - - FPN1 - HFE4 - IREG1 - MTP1 - ferroportin 1 - FPN - iron regulated gene 1 - SLC40 iron transporter - - - gene with protein product - - - - Ensembl - ENSG00000138449 - - - Genatlas - SLC40A1 - - - HGNC - 10909 - - - OMIM - 604653 - - - Reactome - Q9NP59 - - - SwissProt - Q9NP59 - - - IUPHAR - 1194 - - - ClinVar - SLC40A1 - - - - - 2q32.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 647772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647772 - Isolated primary pigmented nodular adrenocortical disease - - Disease - - - Disorder - - - - 16464939[PMID] - - protein kinase cAMP-dependent type I regulatory subunit alpha - PRKAR1A - - CNC1 - Carney complex type 1 - - - gene with protein product - - - - Ensembl - ENSG00000108946 - - - Genatlas - PRKAR1A - - - HGNC - 9388 - - - IUPHAR - 1472 - - - OMIM - 188830 - - - Reactome - P10644 - - - SwissProt - P10644 - - - ClinVar - PRKAR1A - - - - - 17q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35992106[PMID] - - phosphodiesterase 11A - PDE11A - - Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A - - - gene with protein product - - - - Ensembl - ENSG00000128655 - - - Genatlas - PDE11A - - - HGNC - 8773 - - - OMIM - 604961 - - - Reactome - Q9HCR9 - - - SwissProt - Q9HCR9 - - - IUPHAR - 1311 - - - ClinVar - PDE11A - - - - - 2q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 647681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647681 - Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome - - Malformation syndrome - - - Disorder - - - - 36209295[PMID] - - ETS2 repressor factor - ERF - - PE-2 - PE2 - - - gene with protein product - - - - ClinVar - ERF - - - Ensembl - ENSG00000105722 - - - Genatlas - ERF - - - HGNC - 3444 - - - OMIM - 611888 - - - Reactome - P50548 - - - SwissProt - P50548 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 647799 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647799 - MYT1L-related developmental delay-intellectual disability-obesity syndrome - - Disease - - - Disorder - - - - 34748075[PMID] - - myelin transcription factor 1 like - MYT1L - - NZF1 - ZC2H2C2 - KIAA1106 - neural zinc finger transcription factor 1 - ZC2HC4B - - - gene with protein product - - - - Genatlas - MYT1L - - - OMIM - 613084 - - - HGNC - 7623 - - - ClinVar - MYT1L - - - Ensembl - ENSG00000186487 - - - SwissProt - Q9UL68 - - - - - 2p25.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 99898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99898 - Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency - - Disease - - - Disorder - - - - - - interferon gamma receptor 1 - IFNGR1 - - CD119 - - - gene with protein product - - - - ClinVar - IFNGR1 - - - IUPHAR - 1725 - - - Ensembl - ENSG00000027697 - - - Genatlas - IFNGR1 - - - HGNC - 5439 - - - OMIM - 107470 - - - Reactome - P15260 - - - SwissProt - P15260 - - - - - 6q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 647788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647788 - Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome - - Disease - - - Disorder - - - - 34020708[PMID]_29100085[PMID] - - DExH-box helicase 30 - DHX30 - - KIAA0890 - FLJ11214 - - - gene with protein product - - - - HGNC - 16716 - - - Ensembl - ENSG00000132153 - - - SwissProt - Q7L2E3 - - - Reactome - Q7L2E3 - - - OMIM - 616423 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 647782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647782 - Isolated micronodular adrenocortical disease - - Disease - - - Disorder - - - - 35992106[PMID] - - phosphodiesterase 11A - PDE11A - - Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A - - - gene with protein product - - - - Ensembl - ENSG00000128655 - - - Genatlas - PDE11A - - - HGNC - 8773 - - - OMIM - 604961 - - - Reactome - Q9HCR9 - - - SwissProt - Q9HCR9 - - - IUPHAR - 1311 - - - ClinVar - PDE11A - - - - - 2q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 35992106[PMID] - - phosphodiesterase 8B - PDE8B - - High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B - - - gene with protein product - - - - ClinVar - PDE8B - - - Reactome - O95263 - - - SwissProt - O95263 - - - Ensembl - ENSG00000113231 - - - Genatlas - PDE8B - - - HGNC - 8794 - - - OMIM - 603390 - - - IUPHAR - 1308 - - - - - 5q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99879 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99879 - Familial isolated hyperparathyroidism - - Disease - - - Disorder - - - - 27745835[PMID] - - glial cells missing transcription factor 2 - GCM2 - - hGCMb - - - gene with protein product - - - - ClinVar - GCM2 - - - HGNC - 4198 - - - OMIM - 603716 - - - SwissProt - O75603 - - - Ensembl - ENSG00000124827 - - - Genatlas - GCM2 - - - Reactome - O75603 - - - - - 6p24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301744[PMID]_15531515[PMID] - - cell division cycle 73 - CDC73 - - FIHP - Paf1/RNA polymerase II complex component - parafibromin - - - gene with protein product - - - - Ensembl - ENSG00000134371 - - - Genatlas - CDC73 - - - HGNC - 16783 - - - OMIM - 607393 - - - Reactome - Q6P1J9 - - - SwissProt - Q6P1J9 - - - ClinVar - CDC73 - - - - - 1q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 9792884[PMID]_10664521[PMID]_12699448[PMID] - - menin 1 - MEN1 - - menin - - - gene with protein product - - - - Ensembl - ENSG00000133895 - - - Genatlas - MEN1 - - - HGNC - 7010 - - - OMIM - 613733 - - - Reactome - O00255 - - - SwissProt - O00255 - - - ClinVar - MEN1 - - - - - 11q13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 656283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656283 - Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency - - Disease - - - Disorder - - - - 35748970[PMID] - - interleukin 6 cytokine family signal transducer - IL6ST - - GP130 - CD130 - Interleukin-6 receptor subunit beta - gp130, oncostatin M receptor - sGP130 - membrane glycoprotein 130 - IL-6RB - - - gene with protein product - - - - HGNC - 6021 - - - SwissProt - P40189 - - - IUPHAR - 2317 - - - ClinVar - IL6ST - - - OMIM - 600694 - - - Ensembl - ENSG00000134352 - - - Genatlas - IL6ST - - - - - 5q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 656279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656279 - 1p36.33 duplication syndrome - - Disease - - - Disorder - - - - 32004445[PMID] - - ATPase family AAA domain containing 3A - ATAD3A - - FLJ10709 - - - gene with protein product - - - - Genatlas - ATAD3A - - - Ensembl - ENSG00000197785 - - - ClinVar - ATAD3A - - - Reactome - Q9NVI7 - - - OMIM - 612316 - - - HGNC - 25567 - - - SwissProt - Q9NVI7 - - - - - 1p36.33 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 32004445[PMID] - - ATPase family AAA domain containing 3B - ATAD3B - - TOB3 - KIAA1273 - - - gene with protein product - - - - SwissProt - Q5T9A4 - - - Reactome - Q5T9A4 - - - OMIM - 612317 - - - HGNC - 24007 - - - Ensembl - ENSG00000160072 - - - - - 1p36.33 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 32004445[PMID] - - ATPase family AAA domain containing 3C - ATAD3C - - FLJ34599 - - - gene with protein product - - - - SwissProt - Q5T2N8 - - - HGNC - 32151 - - - Ensembl - ENSG00000215915 - - - OMIM - 617227 - - - - - 1p36.33 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 99880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99880 - Hyperparathyroidism-jaw tumor syndrome - - Disease - - - Disorder - - - - 12434154[PMID] - - cell division cycle 73 - CDC73 - - FIHP - Paf1/RNA polymerase II complex component - parafibromin - - - gene with protein product - - - - Ensembl - ENSG00000134371 - - - Genatlas - CDC73 - - - HGNC - 16783 - - - OMIM - 607393 - - - Reactome - Q6P1J9 - - - SwissProt - Q6P1J9 - - - ClinVar - CDC73 - - - - - 1q31.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 656313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656313 - Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency - - Disease - - - Disorder - - - - 35748970[PMID] - - interleukin 6 cytokine family signal transducer - IL6ST - - GP130 - CD130 - Interleukin-6 receptor subunit beta - gp130, oncostatin M receptor - sGP130 - membrane glycoprotein 130 - IL-6RB - - - gene with protein product - - - - HGNC - 6021 - - - SwissProt - P40189 - - - IUPHAR - 2317 - - - ClinVar - IL6ST - - - OMIM - 600694 - - - Ensembl - ENSG00000134352 - - - Genatlas - IL6ST - - - - - 5q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 656300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656300 - Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency - - Disease - - - Disorder - - - - 34044328[PMID] - - interleukin 6 cytokine family signal transducer - IL6ST - - GP130 - CD130 - Interleukin-6 receptor subunit beta - gp130, oncostatin M receptor - sGP130 - membrane glycoprotein 130 - IL-6RB - - - gene with protein product - - - - HGNC - 6021 - - - SwissProt - P40189 - - - IUPHAR - 2317 - - - ClinVar - IL6ST - - - OMIM - 600694 - - - Ensembl - ENSG00000134352 - - - Genatlas - IL6ST - - - - - 5q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 656130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656130 - PBX1-related congenital anomalies of kidney-urinary tract syndrome - - Disease - - - Disorder - - - - 28566479[PMID] - - PBX homeobox 1 - PBX1 - - - - gene with protein product - - - - ClinVar - PBX1 - - - Ensembl - ENSG00000185630 - - - Genatlas - PBX1 - - - HGNC - 8632 - - - OMIM - 176310 - - - Reactome - P40424 - - - SwissProt - P40424 - - - - - 1q23.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 656135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656135 - Intellectual disability-cupped ears syndrome - - Disease - - - Disorder - - - - 31303265[PMID] - - POU class 3 homeobox 3 - POU3F3 - - BRN1 - OTF8 - - - gene with protein product - - - - SwissProt - P20264 - - - Ensembl - ENSG00000198914 - - - HGNC - 9216 - - - OMIM - 602480 - - - - - 2q12.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99887 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99887 - Acute megakaryoblastic leukemia in children with Down syndrome - - Clinical subtype - - - Subtype of disorder - - - - 14636651[PMID] - - GATA binding protein 1 - GATA1 - - ERYF1 - GATA-1 - NF-E1 - NFE1 - nuclear factor, erythroid 1 - - - gene with protein product - - - - ClinVar - GATA1 - - - Ensembl - ENSG00000102145 - - - Genatlas - GATA1 - - - HGNC - 4170 - - - OMIM - 305371 - - - Reactome - P15976 - - - SwissProt - P15976 - - - - - Xp11.23 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 656912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656912 - Autosomal dominant combined immunodeficiency due to ERBIN deficiency - - Disease - - - Disorder - - - - 28126831[PMID] - - erbb2 interacting protein - ERBIN - - ERBB2-interacting protein - LAP2 - densin-180-like protein - - - gene with protein product - - - - Genatlas - ERBIN - - - Reactome - Q96RT1 - - - SwissProt - Q96RT1 - - - OMIM - 606944 - - - Ensembl - ENSG00000112851 - - - HGNC - 15842 - - - ClinVar - ERBIN - - - - - 5q12.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 656326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656326 - Autosomal recessive combined immunodeficiency due to IL6R deficiency - - Disease - - - Disorder - - - - 31235509[PMID] - - interleukin 6 receptor - IL6R - - IL-1Ra - IL6RA - gp80 - IL-6R - membrane glycoprotein 80 - interleukin 6 receptor subunit alpha - CD126 - - - gene with protein product - - - - IUPHAR - 1708 - - - Ensembl - ENSG00000160712 - - - OMIM - 147880 - - - Reactome - P08887 - - - SwissProt - P08887 - - - HGNC - 6019 - - - - - 1q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99885 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99885 - Isolated permanent neonatal diabetes mellitus - - Disease - - - Disorder - - - - 28073828[PMID] - - signal transducer and activator of transcription 3 - STAT3 - - APRF - - - gene with protein product - - - - Ensembl - ENSG00000168610 - - - Genatlas - STAT3 - - - HGNC - 11364 - - - OMIM - 102582 - - - Reactome - P40763 - - - SwissProt - P40763 - - - IUPHAR - 2994 - - - ClinVar - STAT3 - - - - - 17q21.2 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - 21844708[PMID]_22498247[PMID]_20301620[PMID] - - glucokinase - GCK - - HK4 - hexokinase 4 - HKIV - - - gene with protein product - - - - ClinVar - GCK - - - Ensembl - ENSG00000106633 - - - Genatlas - GCK - - - HGNC - 4195 - - - OMIM - 138079 - - - Reactome - P35557 - - - SwissProt - P35557 - - - IUPHAR - 2798 - - - - - 7p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21844708[PMID]_22498247[PMID]_20301620[PMID]_24150202[PMID]_24468099[PMID] - - potassium inwardly rectifying channel subfamily J member 11 - KCNJ11 - - ATP-sensitive inward rectifier potassium channel 11 - BIR - Kir6.2 - beta-cell inward rectifier - - - gene with protein product - - - - Ensembl - ENSG00000187486 - - - Genatlas - KCNJ11 - - - HGNC - 6257 - - - IUPHAR - 442 - - - OMIM - 600937 - - - Reactome - Q14654 - - - SwissProt - Q14654 - - - ClinVar - KCNJ11 - - - - - 11p15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301620[PMID]_22498247[PMID] - - pancreatic and duodenal homeobox 1 - PDX1 - - IDX-1 - MODY4 - PDX-1 - STF-1 - somatostatin transcription factor 1 - Glucose-sensitive factor - insulin upstream factor 1 - IUF-1 - Islet/duodenum homeobox-1 - GSF - - - gene with protein product - - - - ClinVar - PDX1 - - - Ensembl - ENSG00000139515 - - - Genatlas - PDX1 - - - HGNC - 6107 - - - OMIM - 600733 - - - Reactome - P52945 - - - SwissProt - P52945 - - - - - 13q12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21844708[PMID]_22498247[PMID]_20301620[PMID]_23245869[PMID]_23107109[PMID] - - insulin - INS - - - - gene with protein product - - - - ClinVar - INS - - - Ensembl - ENSG00000254647 - - - Genatlas - INS - - - HGNC - 6081 - - - OMIM - 176730 - - - Reactome - P01308 - - - SwissProt - P01308 - - - - - 11p15.5 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21844708[PMID]_22498247[PMID]_20301620[PMID] - - ATP binding cassette subfamily C member 8 - ABCC8 - - ABC36 - HHF1 - HI - MRP8 - PHHI - SUR1 - TNDM2 - sulfonylurea receptor (hyperinsulinemia) - - - gene with protein product - - - - ClinVar - ABCC8 - - - Ensembl - ENSG00000006071 - - - Genatlas - ABCC8 - - - HGNC - 59 - - - IUPHAR - 2594 - - - OMIM - 600509 - - - Reactome - Q09428 - - - SwissProt - Q09428 - - - - - 11p15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99886 - Transient neonatal diabetes mellitus - - Disease - - - Disorder - - - - 21844708[PMID]_22498247[PMID]_21738553[PMID] - - ATP binding cassette subfamily C member 8 - ABCC8 - - ABC36 - HHF1 - HI - MRP8 - PHHI - SUR1 - TNDM2 - sulfonylurea receptor (hyperinsulinemia) - - - gene with protein product - - - - ClinVar - ABCC8 - - - Ensembl - ENSG00000006071 - - - Genatlas - ABCC8 - - - HGNC - 59 - - - IUPHAR - 2594 - - - OMIM - 600509 - - - Reactome - Q09428 - - - SwissProt - Q09428 - - - - - 11p15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21844708[PMID]_22498247[PMID]_21352428[PMID] - - potassium inwardly rectifying channel subfamily J member 11 - KCNJ11 - - ATP-sensitive inward rectifier potassium channel 11 - BIR - Kir6.2 - beta-cell inward rectifier - - - gene with protein product - - - - Ensembl - ENSG00000187486 - - - Genatlas - KCNJ11 - - - HGNC - 6257 - - - IUPHAR - 442 - - - OMIM - 600937 - - - Reactome - Q14654 - - - SwissProt - Q14654 - - - ClinVar - KCNJ11 - - - - - 11p15.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301706[PMID]_21844708[PMID]_20803656[PMID] - - hydatidiform mole associated and imprinted - HYMAI - - NCRNA00020 - non-protein coding RNA 20 - - - Non-coding RNA - - - - Ensembl - ENSG00000283122 - - - Genatlas - HYMAI - - - HGNC - 5326 - - - OMIM - 606546 - - - ClinVar - HYMAI - - - SwissProt - - - - - - 6q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301706[PMID]_21844708[PMID]_20803656[PMID] - - PLAG1 like zinc finger 1 - PLAGL1 - - LOT1 - ZAC - - - gene with protein product - - - - Ensembl - ENSG00000118495 - - - Genatlas - PLAGL1 - - - HGNC - 9046 - - - OMIM - 603044 - - - SwissProt - Q9UM63 - - - ClinVar - PLAGL1 - - - Reactome - Q9UM63 - - - - - 6q24.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301706[PMID]_22498247[PMID]_23150280[PMID]_23499433[PMID] - - ZFP57 zinc finger protein - ZFP57 - - bA145L22 - bA145L22.2 - ZNF698 - - - gene with protein product - - - - HGNC - 18791 - - - OMIM - 612192 - - - SwissProt - Q9NU63 - - - Ensembl - ENSG00000204644 - - - Genatlas - ZFP57 - - - ClinVar - ZFP57 - - - - - 6p22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 653712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653712 - CHD4-related neurodevelopmental disorder - - Disease - - - Disorder - - - - 37324594[PMID]_31388190[PMID]_ - - chromodomain helicase DNA binding protein 4 - CHD4 - - Mi2-BETA - Mi-2b - - - gene with protein product - - - - HGNC - 1919 - - - Reactome - Q14839 - - - OMIM - 603277 - - - Ensembl - ENSG00000111642 - - - SwissProt - Q14839 - - - ClinVar - CHD4 - - - Genatlas - CHD4 - - - - - 12p13.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 653722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653722 - Digenic Alport syndrome - - Clinical subtype - - - Subtype of disorder - - - - 5675912[PMID]_34930753[PMID]_35547199[PMID] - - collagen type IV alpha 3 chain - COL4A3 - - tumstatin - - - gene with protein product - - - - ClinVar - COL4A3 - - - Ensembl - ENSG00000169031 - - - Genatlas - COL4A3 - - - HGNC - 2204 - - - OMIM - 120070 - - - Reactome - Q01955 - - - SwissProt - Q01955 - - - - - 2q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 5675912[PMID]_34930753[PMID]_35547199[PMID] - - collagen type IV alpha 4 chain - COL4A4 - - CA44 - collagen of basement membrane, alpha-4 chain - - - gene with protein product - - - - ClinVar - COL4A4 - - - Ensembl - ENSG00000081052 - - - Genatlas - COL4A4 - - - HGNC - 2206 - - - OMIM - 120131 - - - Reactome - P53420 - - - SwissProt - P53420 - - - - - 2q36.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 5675912[PMID]_34930753[PMID]_35547199[PMID] - - collagen type IV alpha 5 chain - COL4A5 - - - - gene with protein product - - - - ClinVar - COL4A5 - - - Ensembl - ENSG00000188153 - - - Genatlas - COL4A5 - - - HGNC - 2207 - - - OMIM - 303630 - - - Reactome - P29400 - - - SwissProt - P29400 - - - - - Xq22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 653725 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653725 - Autosomal recessive limb-girdle muscular dystrophy, type 28 - - Disease - - - Disorder - - - - 36745799[PMID]_37167966[PMID] - - 3-hydroxy-3-methylglutaryl-CoA reductase - HMGCR - - hydroxymethylglutaryl-CoA reductase - 3-hydroxy-3-methylglutaryl CoA reductase (NADPH) - - - gene with protein product - - - - HGNC - 5006 - - - Ensembl - ENSG00000113161 - - - OMIM - 142910 - - - IUPHAR - 639 - - - SwissProt - P04035 - - - - - 5q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 653728 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653728 - Congenital insensitivity to pain syndrome, Marsili type - - Disease - - - Disorder - - - - 29253101[PMID] - - zinc finger homeobox 2 - ZFHX2 - - KIAA1762 - KIAA1056 - ZFH-5 - - - gene with protein product - - - - Ensembl - ENSG00000136367 - - - SwissProt - Q9C0A1 - - - HGNC - 20152 - - - OMIM - 617828 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99861 - Precursor T-cell acute lymphoblastic leukemia - - Disease - - - Disorder - - - - 29279377[PMID] - - ABL proto-oncogene 1, non-receptor tyrosine kinase - ABL1 - - JTK7 - c-ABL - p150 - - - gene with protein product - - - - ClinVar - ABL1 - - - OMIM - 189980 - - - Reactome - P00519 - - - SwissProt - P00519 - - - Ensembl - ENSG00000097007 - - - Genatlas - ABL1 - - - HGNC - 76 - - - IUPHAR - 1923 - - - - - 9q34.12 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 29279377[PMID] - - SET nuclear proto-oncogene - SET - - Template-Activating Factor-I, chromatin remodelling factor - 2PP2A - IPP2A2 - PHAPII - protein phosphatase type 2A inhibitor - IGAAD - TAF-I - TAF-IBETA - Template-Activating Factor-I - chromatin remodelling factor - HLA-DR-associated protein II - inhibitor of granzyme A-activated DNase - - - gene with protein product - - - - HGNC - 10760 - - - Ensembl - ENSG00000119335 - - - SwissProt - Q01105 - - - OMIM - 600960 - - - Genatlas - SET - - - Reactome - Q01105 - - - ClinVar - SET - - - - - 9q34.11 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 29279377[PMID] - - nucleoporin 214 - NUP214 - - CAIN - CAN - CAN protein, putative oncogene - D9S46E - N214 - nuclear pore complex protein Nup214 - - - gene with protein product - - - - ClinVar - NUP214 - - - Ensembl - ENSG00000126883 - - - Genatlas - NUP214 - - - HGNC - 8064 - - - OMIM - 114350 - - - Reactome - P35658 - - - SwissProt - P35658 - - - - - 9q34.13 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 29279377[PMID] - - zinc finger and BTB domain containing 16 - ZBTB16 - - PLZF - promyelocytic leukaemia zinc finger - - - gene with protein product - - - - Ensembl - ENSG00000109906 - - - Genatlas - ZBTB16 - - - HGNC - 12930 - - - OMIM - 176797 - - - Reactome - Q05516 - - - SwissProt - Q05516 - - - ClinVar - ZBTB16 - - - - - 11q23.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 29279377[PMID] - - spalt like transcription factor 2 - SALL2 - - Hsal2 - KIAA0360 - ZNF795 - - - gene with protein product - - - - Ensembl - ENSG00000165821 - - - Genatlas - SALL2 - - - HGNC - 10526 - - - OMIM - 602219 - - - SwissProt - Q9Y467 - - - Reactome - Q9Y467 - - - ClinVar - SALL2 - - - - - 14q11.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 29279377[PMID] - - T-cell receptor alpha locus - TRA - - - - gene with protein product - - - - Ensembl - - - - OMIM - - - - ClinVar - TRA@ - - - SwissProt - P0DSE1 - - - Genatlas - TRA@ - - - HGNC - 12027 - - - - - 14q11.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - BCR activator of RhoGEF and GTPase - BCR - - ALL - CML - D22S662 - PHL - - - gene with protein product - - - - ClinVar - BCR - - - Ensembl - ENSG00000186716 - - - Genatlas - BCR - - - HGNC - 1014 - - - IUPHAR - 2755 - - - OMIM - 151410 - - - Reactome - P11274 - - - SwissProt - P11274 - - - - - 22q11.23 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 18838613[PMID] - - cyclin dependent kinase inhibitor 2A - CDKN2A - - ARF - CDK4I - CMM2 - INK4 - INK4a - MTS1 - p14 - p14ARF - p16 - p16INK4a - p19 - p19Arf - inhibitor of cdk4 A - P16-INK4A - CDKN2A/ARF Intron 2 lncRNA - multiple tumour suppressor 1 - cyclin-dependent kinase 4 inhibitor A - p14 alternate open reading frame - p19 alternate open reading frame - CAI2 - - - gene with protein product - - - - Ensembl - ENSG00000147889 - - - Genatlas - CDKN2A - - - HGNC - 1787 - - - OMIM - 600160 - - - Reactome - P42771 - - - SwissProt - P42771 - - - ClinVar - CDKN2A - - - - - 9p21.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - TAL bHLH transcription factor 1, erythroid differentiation factor - TAL1 - - SCL - bHLHa17 - - - gene with protein product - - - - Ensembl - ENSG00000162367 - - - Genatlas - TAL1 - - - HGNC - 11556 - - - OMIM - 187040 - - - SwissProt - P17542 - - - ClinVar - TAL1 - - - Reactome - P17542 - - - - - 1p33 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 16234090[PMID] - - fms related receptor tyrosine kinase 3 - FLT3 - - CD135 - FLK2 - STK1 - - - gene with protein product - - - - Ensembl - ENSG00000122025 - - - Genatlas - FLT3 - - - HGNC - 3765 - - - IUPHAR - 1807 - - - OMIM - 136351 - - - Reactome - P36888 - - - ClinVar - FLT3 - - - SwissProt - P36888 - - - - - 13q12.2 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - MYC proto-oncogene, bHLH transcription factor - MYC - - MYCC - bHLHe39 - c-Myc - - - gene with protein product - - - - Ensembl - ENSG00000136997 - - - Genatlas - MYC - - - HGNC - 7553 - - - OMIM - 190080 - - - Reactome - P01106 - - - SwissProt - P01106 - - - ClinVar - MYC - - - - - 8q24.21 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - STIL centriolar assembly protein - STIL - - MCPH7 - - - gene with protein product - - - - ClinVar - STIL - - - Reactome - Q15468 - - - Ensembl - ENSG00000123473 - - - Genatlas - STIL - - - HGNC - 10879 - - - OMIM - 181590 - - - SwissProt - Q15468 - - - - - 1p33 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - MYB proto-oncogene, transcription factor - MYB - - c-myb - - - gene with protein product - - - - Ensembl - ENSG00000118513 - - - Genatlas - MYB - - - HGNC - 7545 - - - OMIM - 189990 - - - Reactome - P10242 - - - SwissProt - P10242 - - - ClinVar - MYB - - - - - 6q23.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - T-cell receptor beta locus - TRB - - T-cell antigen receptor, beta polypeptide, T-cell receptor, beta cluster - - - gene with protein product - - - - OMIM - - - - ClinVar - TRB@ - - - Ensembl - - - - Genatlas - TRB@ - - - HGNC - 12155 - - - Reactome - P04435 - - - SwissProt - P0DSE2 - - - - - 7q34 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - T-cell receptor delta locus - TRD - - TCRDV1 - - - gene with protein product - - - - Ensembl - - - - OMIM - - - - SwissProt - - - - ClinVar - TRD@ - - - Genatlas - TRD@ - - - HGNC - 12252 - - - - - 14q11.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - T-cell receptor gamma locus - TRG - - T-cell antigen receptor, gamma polypeptide - T-cell rearranging gene, gamma - T-cell receptor, gamma cluster - - - gene with protein product - - - - ClinVar - TRG@ - - - Ensembl - - - - Genatlas - TRG@ - - - HGNC - 12271 - - - OMIM - - - - SwissProt - - - - - - 7p14 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - TCL1 family AKT coactivator A - TCL1A - - TCL1 - - - gene with protein product - - - - Reactome - P56279 - - - Ensembl - ENSG00000100721 - - - Genatlas - TCL1A - - - HGNC - 11648 - - - OMIM - 186960 - - - SwissProt - P56279 - - - ClinVar - TCL1A - - - - - 14q32.13 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 22516255[PMID]_22516263[PMID] - - T cell leukemia homeobox 1 - TLX1 - - Homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch) - homeo box 11 (T-cell lymphoma 3-associated breakpoint) - - - gene with protein product - - - - ClinVar - TLX1 - - - Ensembl - ENSG00000107807 - - - Genatlas - TLX1 - - - HGNC - 5056 - - - OMIM - 186770 - - - SwissProt - P31314 - - - Reactome - P31314 - - - - - 10q24.31 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 22516255[PMID]_22516263[PMID] - - T cell leukemia homeobox 3 - TLX3 - - RNX - - - gene with protein product - - - - ClinVar - TLX3 - - - Ensembl - ENSG00000164438 - - - Genatlas - TLX3 - - - HGNC - 13532 - - - Reactome - O43711 - - - OMIM - 604640 - - - SwissProt - O43711 - - - - - 5q35.1 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 23263491[PMID] - - CCR4-NOT transcription complex subunit 3 - CNOT3 - - KIAA0691 - LENG2 - NOT3 (negative regulator of transcription 3, yeast) homolog - NOT3H - - - gene with protein product - - - - Ensembl - ENSG00000088038 - - - Genatlas - CNOT3 - - - HGNC - 7879 - - - OMIM - 604910 - - - Reactome - O75175 - - - SwissProt - O75175 - - - ClinVar - CNOT3 - - - - - 19q13.42 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Not yet assessed - - - - 23673860[PMID] - - MLLT10 histone lysine methyltransferase DOT1L cofactor - MLLT10 - - AF10 - - - gene with protein product - - - - Ensembl - ENSG00000078403 - - - Genatlas - MLLT10 - - - HGNC - 16063 - - - OMIM - 602409 - - - SwissProt - P55197 - - - Reactome - P55197 - - - ClinVar - MLLT10 - - - - - 10p12.31 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 23673860[PMID] - - DEAD-box helicase 3 X-linked - DDX3X - - DBX - DDX14 - HLP2 - Helicase-like protein 2 - CAP-Rf - - - gene with protein product - - - - Ensembl - ENSG00000215301 - - - Genatlas - DDX3X - - - HGNC - 2745 - - - OMIM - 300160 - - - SwissProt - O00571 - - - Reactome - O00571 - - - ClinVar - DDX3X - - - - - Xp11.4 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - phosphatidylinositol binding clathrin assembly protein - PICALM - - CALM - CLTH - - - gene with protein product - - - - Ensembl - ENSG00000073921 - - - Genatlas - PICALM - - - HGNC - 15514 - - - OMIM - 603025 - - - Reactome - Q13492 - - - SwissProt - Q13492 - - - ClinVar - PICALM - - - - - 11q14.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 653709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653709 - Cone rod dystrophy-short stature syndrome - - Disease - - - Disorder - - - - 27548899[PMID] - - cilia and flagella associated protein 410 - CFAP410 - - leucine rich repeat containing 76 - nuclear encoded mitochondrial protein - LRRC76 - A2 - YF5 - - - gene with protein product - - - - Reactome - O43822 - - - HGNC - 1260 - - - SwissProt - O43822 - - - Ensembl - ENSG00000160226 - - - OMIM - 603191 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 653751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653751 - X-linked combined immunodeficiency due to SASH3 deficiency - - Disease - - - Disorder - - - - 33876203[PMID]_35464398[PMID] - - SAM and SH3 domain containing 3 - SASH3 - - SLY - 753P9 - SH3D6C - HACS2 - - - gene with protein product - - - - Ensembl - ENSG00000122122 - - - OMIM - 300441 - - - Reactome - O75995 - - - SwissProt - O75995 - - - HGNC - 15975 - - - - - Xq26.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 653767 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653767 - Jansen-de Vries syndrome - - Disease - - - Disorder - - - - 28343630[PMID]_7183572[PMID]_37385405[PMID] - - protein phosphatase, Mg2+/Mn2+ dependent 1D - PPM1D - - protein phosphatase 2C, delta isoform - wild-type p53-induced phosphatase 1 - PP2C-DELTA - Wip1 - - - gene with protein product - - - - IUPHAR - 3134 - - - Reactome - O15297 - - - SwissProt - O15297 - - - Ensembl - ENSG00000170836 - - - Genatlas - PPM1D - - - HGNC - 9277 - - - OMIM - 605100 - - - ClinVar - PPM1D - - - - - 17q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 653880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653880 - Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency - - Disease - - - Disorder - - - - 26506407[PMID] - - enoyl-CoA hydratase, short chain 1 - ECHS1 - - SCEH - short chain enoyl-CoA hydratase - - - gene with protein product - - - - ClinVar - ECHS1 - - - Ensembl - ENSG00000127884 - - - Genatlas - ECHS1 - - - HGNC - 3151 - - - OMIM - 602292 - - - Reactome - P30084 - - - SwissProt - P30084 - - - - - 10q26.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99849 - Glycogen storage disease due to muscle beta-enolase deficiency - - Disease - - - Disorder - - - - 11506403[PMID] - - enolase 3 - ENO3 - - beta-enolase - muscle enriched enolase - - - gene with protein product - - - - Ensembl - ENSG00000108515 - - - Genatlas - ENO3 - - - HGNC - 3354 - - - OMIM - 131370 - - - Reactome - P13929 - - - SwissProt - P13929 - - - ClinVar - ENO3 - - - - - 17p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 652487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652487 - Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome - - Malformation syndrome - - - Disorder - - - - 35567594[PMID]_37212523[PMID]_37272925[PMID] - - serine/arginine repetitive matrix 2 - SRRM2 - - SRm300 - SRL300 - KIAA0324 - Cwc21 - - - gene with protein product - - - - SwissProt - Q9UQ35 - - - OMIM - 606032 - - - Ensembl - ENSG00000167978 - - - HGNC - 16639 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99845 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99845 - Genetic recurrent myoglobinuria - - Disease - - - Disorder - - - - - - mitochondrially encoded cytochrome c oxidase I - MT-CO1 - - COI - COX1 - - - gene with protein product - - - - ClinVar - MT-CO1 - - - Ensembl - ENSG00000198804 - - - Genatlas - MT-CO1 - - - HGNC - 7419 - - - OMIM - 516030 - - - Reactome - P00395 - - - SwissProt - P00395 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - mitochondrially encoded cytochrome c oxidase III - MT-CO3 - - CO3 - COIII - COX3 - - - gene with protein product - - - - ClinVar - MT-CO3 - - - Ensembl - ENSG00000198938 - - - Genatlas - MT-CO3 - - - HGNC - 7422 - - - OMIM - 516050 - - - Reactome - P00414 - - - SwissProt - P00414 - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - lipin 1 - LPIN1 - - phosphatidate phosphatase LPIN1 - KIAA0188 - - - gene with protein product - - - - Ensembl - ENSG00000134324 - - - Genatlas - LPIN1 - - - HGNC - 13345 - - - OMIM - 605518 - - - Reactome - Q14693 - - - SwissProt - Q14693 - - - IUPHAR - 1435 - - - ClinVar - LPIN1 - - - - - 2p25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34957489[PMID] - - obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF - OBSCN - - UNC89 - KIAA1556 - KIAA1639 - ARHGEF30 - - - gene with protein product - - - - SwissProt - Q5VST9 - - - ClinVar - OBSCN - - - Reactome - Q5VST9 - - - HGNC - 15719 - - - OMIM - 608616 - - - Ensembl - ENSG00000154358 - - - IUPHAR - 2131 - - - Genatlas - OBSCN - - - - - 1q42.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99843 - Leukocyte adhesion deficiency type II - - Clinical subtype - - - Subtype of disorder - - - - - - solute carrier family 35 member C1 - SLC35C1 - - GDP-fucose transporter 1 - FLJ11320 - FUCT1 - - - gene with protein product - - - - Ensembl - ENSG00000181830 - - - Genatlas - SLC35C1 - - - HGNC - 20197 - - - OMIM - 605881 - - - Reactome - Q96A29 - - - SwissProt - Q96A29 - - - IUPHAR - 1147 - - - ClinVar - SLC35C1 - - - - - 11p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99844 - Leukocyte adhesion deficiency type III - - Clinical subtype - - - Subtype of disorder - - - - - - FERM domain containing kindlin 3 - FERMT3 - - KIND3 - MGC10966 - MIG-2 - MIG2B - UNC112C - URP2 - kindlin-3 - UNC-112 related protein 2 - - - gene with protein product - - - - Ensembl - ENSG00000149781 - - - Genatlas - FERMT3 - - - HGNC - 23151 - - - OMIM - 607901 - - - SwissProt - Q86UX7 - - - Reactome - Q86UX7 - - - ClinVar - FERMT3 - - - - - 11q13.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 99853 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99853 - Ovarioleukodystrophy - - Clinical subtype - - - Subtype of disorder - - - - 20301435[PMID]_15136673[PMID] - - eukaryotic translation initiation factor 2B subunit alpha - EIF2B1 - - EIF2Balpha - EIF-2B - EIF-2Balpha - EIF2BA - - - gene with protein product - - - - ClinVar - EIF2B1 - - - Ensembl - ENSG00000111361 - - - Genatlas - EIF2B1 - - - HGNC - 3257 - - - OMIM - 606686 - - - Reactome - Q14232 - - - SwissProt - Q14232 - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301435[PMID]_15136673[PMID] - - eukaryotic translation initiation factor 2B subunit beta - EIF2B2 - - EIF2Bbeta - EIF-2Bbeta - EIF2B - - - gene with protein product - - - - ClinVar - EIF2B2 - - - Ensembl - ENSG00000119718 - - - Genatlas - EIF2B2 - - - HGNC - 3258 - - - OMIM - 606454 - - - Reactome - P49770 - - - SwissProt - P49770 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301435[PMID]_15136673[PMID] - - eukaryotic translation initiation factor 2B subunit gamma - EIF2B3 - - EIF-2B - EIF2Bgamma - - - gene with protein product - - - - ClinVar - EIF2B3 - - - SwissProt - Q9NR50 - - - Ensembl - ENSG00000070785 - - - Genatlas - EIF2B3 - - - HGNC - 3259 - - - OMIM - 606273 - - - Reactome - Q9NR50 - - - - - 1p34.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301435[PMID]_15136673[PMID] - - eukaryotic translation initiation factor 2B subunit delta - EIF2B4 - - DKFZP586J0119 - EIF-2B - EIF2B - EIF2Bdelta - - - gene with protein product - - - - ClinVar - EIF2B4 - - - Ensembl - ENSG00000115211 - - - Genatlas - EIF2B4 - - - HGNC - 3260 - - - OMIM - 606687 - - - Reactome - Q9UI10 - - - SwissProt - Q9UI10 - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301435[PMID]_15136673[PMID] - - eukaryotic translation initiation factor 2B subunit epsilon - EIF2B5 - - EIF-2B - EIF2Bepsilon - - - gene with protein product - - - - ClinVar - EIF2B5 - - - Ensembl - ENSG00000145191 - - - Genatlas - EIF2B5 - - - HGNC - 3261 - - - OMIM - 603945 - - - Reactome - Q13144 - - - SwissProt - Q13144 - - - - - 3q27.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 24808023[PMID] - - alanyl-tRNA synthetase 2, mitochondrial - AARS2 - - bA444E17.1 - KIAA1270 - alanine tRNA ligase 2, mitochondrial - - - gene with protein product - - - - Ensembl - ENSG00000124608 - - - Genatlas - AARS2 - - - HGNC - 21022 - - - OMIM - 612035 - - - Reactome - Q5JTZ9 - - - SwissProt - Q5JTZ9 - - - ClinVar - AARS2 - - - - - 6p21.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 652532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652532 - Adult-onset progressive leukoencephalopathy-early-onset deafness - - Disease - - - Disorder - - - - 28887846[PMID]_30737337[PMID] - - lysyl-tRNA synthetase 1 - KARS1 - - KARS1 - KARS2 - lysine tRNA ligase - - - gene with protein product - - - - ClinVar - KARS - - - Ensembl - ENSG00000065427 - - - Genatlas - KARS - - - HGNC - 6215 - - - OMIM - 601421 - - - Reactome - Q15046 - - - SwissProt - Q15046 - - - - - 16q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99854 - Cree leukoencephalopathy - - Clinical subtype - - - Subtype of disorder - - - - 20301435[PMID]_15136673[PMID] - - eukaryotic translation initiation factor 2B subunit alpha - EIF2B1 - - EIF2Balpha - EIF-2B - EIF-2Balpha - EIF2BA - - - gene with protein product - - - - ClinVar - EIF2B1 - - - Ensembl - ENSG00000111361 - - - Genatlas - EIF2B1 - - - HGNC - 3257 - - - OMIM - 606686 - - - Reactome - Q14232 - - - SwissProt - Q14232 - - - - - 12q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301435[PMID]_15136673[PMID] - - eukaryotic translation initiation factor 2B subunit beta - EIF2B2 - - EIF2Bbeta - EIF-2Bbeta - EIF2B - - - gene with protein product - - - - ClinVar - EIF2B2 - - - Ensembl - ENSG00000119718 - - - Genatlas - EIF2B2 - - - HGNC - 3258 - - - OMIM - 606454 - - - Reactome - P49770 - - - SwissProt - P49770 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301435[PMID]_15136673[PMID] - - eukaryotic translation initiation factor 2B subunit gamma - EIF2B3 - - EIF-2B - EIF2Bgamma - - - gene with protein product - - - - ClinVar - EIF2B3 - - - SwissProt - Q9NR50 - - - Ensembl - ENSG00000070785 - - - Genatlas - EIF2B3 - - - HGNC - 3259 - - - OMIM - 606273 - - - Reactome - Q9NR50 - - - - - 1p34.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301435[PMID]_15136673[PMID] - - eukaryotic translation initiation factor 2B subunit delta - EIF2B4 - - DKFZP586J0119 - EIF-2B - EIF2B - EIF2Bdelta - - - gene with protein product - - - - ClinVar - EIF2B4 - - - Ensembl - ENSG00000115211 - - - Genatlas - EIF2B4 - - - HGNC - 3260 - - - OMIM - 606687 - - - Reactome - Q9UI10 - - - SwissProt - Q9UI10 - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301435[PMID]_15136673[PMID] - - eukaryotic translation initiation factor 2B subunit epsilon - EIF2B5 - - EIF-2B - EIF2Bepsilon - - - gene with protein product - - - - ClinVar - EIF2B5 - - - Ensembl - ENSG00000145191 - - - Genatlas - EIF2B5 - - - HGNC - 3261 - - - OMIM - 603945 - - - Reactome - Q13144 - - - SwissProt - Q13144 - - - - - 3q27.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99852 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99852 - Ravine syndrome - - Disease - - - Disorder - - - - 22411793[PMID]_23637635[PMID] - - SLC7A2 intronic transcript 1 - SLC7A2-IT1 - - - - Non-coding RNA - - - - HGNC - 54925 - - - OMIM - - - - SwissProt - - - - Ensembl - ENSG00000279903 - - - - - 8p22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 652522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652522 - Periodic fever-immunodeficiency-thrombocytopenia syndrome - - Disease - - - Disorder - - - - 29751004[PMID]_27994071[PMID] - - WD repeat domain 1 - WDR1 - - actin-interacting protein 1 - AIP1 - - - gene with protein product - - - - ClinVar - WDR1 - - - HGNC - 12754 - - - Ensembl - ENSG00000071127 - - - SwissProt - O75083 - - - OMIM - 604734 - - - Genatlas - WDR1 - - - Reactome - O75083 - - - - - 4p16.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99832 - Resistance to thyrotropin-releasing hormone syndrome - - Disease - - - Disorder - - - - 20537182[PMID]_22851492[PMID] - - thyrotropin releasing hormone receptor - TRHR - - - - gene with protein product - - - - Ensembl - ENSG00000174417 - - - Genatlas - TRHR - - - HGNC - 12299 - - - IUPHAR - 363 - - - OMIM - 188545 - - - Reactome - P34981 - - - SwissProt - P34981 - - - ClinVar - TRHR - - - - - 8q23.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 99842 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99842 - Leukocyte adhesion deficiency type I - - Clinical subtype - - - Subtype of disorder - - - - - - integrin subunit beta 2 - ITGB2 - - LFA-1 - MAC-1 - complement component 3 receptor 3 and 4 subunit - - - gene with protein product - - - - HGNC - 6155 - - - OMIM - 600065 - - - Reactome - P05107 - - - SwissProt - P05107 - - - ClinVar - ITGB2 - - - Ensembl - ENSG00000160255 - - - Genatlas - ITGB2 - - - IUPHAR - 2456 - - - - - 21q22.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 650097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650097 - Genetic central precocious puberty in male - - Clinical subtype - - - Subtype of disorder - - - - 23738509[PMID] - - makorin ring finger protein 3 - MKRN3 - - MGC88288 - RNF63 - ZFP127 - zinc finger protein 127 - - - gene with protein product - - - - Ensembl - ENSG00000179455 - - - Genatlas - MKRN3 - - - HGNC - 7114 - - - OMIM - 603856 - - - SwissProt - Q13064 - - - ClinVar - MKRN3 - - - Reactome - Q13064 - - - - - 15q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30733078[PMID] - - delta like non-canonical Notch ligand 1 - DLK1 - - Delta1 - FA1 - Pref-1 - ZOG - pG2 - - - gene with protein product - - - - ClinVar - DLK1 - - - Ensembl - ENSG00000185559 - - - Genatlas - DLK1 - - - HGNC - 2907 - - - OMIM - 176290 - - - Reactome - P80370 - - - SwissProt - P80370 - - - - - 14q32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32228714[PMID] - - KISS1 receptor - KISS1R - - AXOR12 - HOT7T175 - - - gene with protein product - - - - ClinVar - KISS1R - - - Ensembl - ENSG00000116014 - - - Genatlas - KISS1R - - - HGNC - 4510 - - - IUPHAR - 266 - - - OMIM - 604161 - - - Reactome - Q969F8 - - - SwissProt - Q969F8 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20237166[PMID] - - KiSS-1 metastasis suppressor - KISS1 - - kisspeptin - prepro-kisspeptin - - - gene with protein product - - - - Ensembl - ENSG00000170498 - - - Genatlas - KISS1 - - - HGNC - 6341 - - - OMIM - 603286 - - - Reactome - Q15726 - - - SwissProt - Q15726 - - - ClinVar - KISS1 - - - - - 1q32.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 650077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650077 - Genetic central precocious puberty in female - - Disease - - - Disorder - - - - 23738509[PMID] - - makorin ring finger protein 3 - MKRN3 - - MGC88288 - RNF63 - ZFP127 - zinc finger protein 127 - - - gene with protein product - - - - Ensembl - ENSG00000179455 - - - Genatlas - MKRN3 - - - HGNC - 7114 - - - OMIM - 603856 - - - SwissProt - Q13064 - - - ClinVar - MKRN3 - - - Reactome - Q13064 - - - - - 15q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30733078[PMID] - - delta like non-canonical Notch ligand 1 - DLK1 - - Delta1 - FA1 - Pref-1 - ZOG - pG2 - - - gene with protein product - - - - ClinVar - DLK1 - - - Ensembl - ENSG00000185559 - - - Genatlas - DLK1 - - - HGNC - 2907 - - - OMIM - 176290 - - - Reactome - P80370 - - - SwissProt - P80370 - - - - - 14q32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32228714[PMID] - - KISS1 receptor - KISS1R - - AXOR12 - HOT7T175 - - - gene with protein product - - - - ClinVar - KISS1R - - - Ensembl - ENSG00000116014 - - - Genatlas - KISS1R - - - HGNC - 4510 - - - IUPHAR - 266 - - - OMIM - 604161 - - - Reactome - Q969F8 - - - SwissProt - Q969F8 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99811 - Neuronal intestinal pseudoobstruction - - Etiological subtype - - - Subtype of disorder - - - - 17357080[PMID] - - filamin A - FLNA - - ABP-280 - actin binding protein 280 - alpha filamin - - - gene with protein product - - - - Ensembl - ENSG00000196924 - - - Genatlas - FLNA - - - HGNC - 3754 - - - OMIM - 300017 - - - Reactome - P21333 - - - SwissProt - P21333 - - - ClinVar - FLNA - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 660012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660012 - Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation - - Etiological subtype - - - Subtype of disorder - - - - 32366965[PMID] - - nuclear receptor subfamily 4 group A member 2 - NR4A2 - - TINUR - NOT - RNR1 - HZF-3 - - - gene with protein product - - - - HGNC - 7981 - - - Ensembl - ENSG00000153234 - - - SwissProt - P43354 - - - Reactome - P43354 - - - IUPHAR - 630 - - - OMIM - 601828 - - - - - 2q24.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99812 - LIG4 syndrome - - Disease - - - Disorder - - - - 27169690[PMID] - - X-ray repair cross complementing 4 - XRCC4 - - DNA repair protein XRCC4 - X-ray repair, complementing defective, repair in Chinese hamster - hXRCC4 - - - gene with protein product - - - - HGNC - 12831 - - - OMIM - 194363 - - - Genatlas - XRCC4 - - - SwissProt - Q13426 - - - Reactome - Q13426 - - - Ensembl - ENSG00000152422 - - - ClinVar - XRCC4 - - - - - 5q14.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 23372718[PMID] - - DNA ligase 4 - LIG4 - - DNA joinase - DNA repair enzyme - polydeoxyribonucleotide synthase [ATP] 4 - polynucleotide ligase - sealase - DNA ligase IV - - - gene with protein product - - - - ClinVar - LIG4 - - - Ensembl - ENSG00000174405 - - - Genatlas - LIG4 - - - HGNC - 6601 - - - OMIM - 601837 - - - Reactome - P49917 - - - SwissProt - P49917 - - - - - 13q33.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 660021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660021 - Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - 36751037[PMID] - - angiomotin like 1 - AMOTL1 - - junction-enriched and associated protein - JEAP - - - gene with protein product - - - - HGNC - 17811 - - - Ensembl - ENSG00000166025 - - - OMIM - 614657 - - - SwissProt - Q8IY63 - - - - - 11q21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 661526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=661526 - MBD4-related tumor predisposition syndrome - - Disease - - - Disorder - - - - 35460607[PMID] - - methyl-CpG binding domain 4, DNA glycosylase - MBD4 - - MED1 - - - gene with protein product - - - - Ensembl - ENSG00000129071 - - - OMIM - 603574 - - - SwissProt - O95243 - - - HGNC - 6919 - - - - - 3q21.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 662172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662172 - Phelan-McDermid syndrome due to SHANK3 mutation - - Etiological subtype - - - Subtype of disorder - - - - 30537371[PMID]_20385823[PMID] - - SH3 and multiple ankyrin repeat domains 3 - SHANK3 - - PSAP2 - SPANK-2 - proline rich synapse associated protein 2 - prosap2 - shank postsynaptic density protein - KIAA1650 - shank3 postsynaptic density protein - - - gene with protein product - - - - Reactome - Q9BYB0 - - - ClinVar - SHANK3 - - - Ensembl - ENSG00000251322 - - - Genatlas - SHANK3 - - - HGNC - 14294 - - - OMIM - 606230 - - - SwissProt - Q9BYB0 - - - - - 22q13.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 99819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99819 - Familial gestational hyperthyroidism - - Disease - - - Disorder - - - - 9854118[PMID] - - thyroid stimulating hormone receptor - TSHR - - LGR3 - - - gene with protein product - - - - Ensembl - ENSG00000165409 - - - Genatlas - TSHR - - - HGNC - 12373 - - - IUPHAR - 255 - - - OMIM - 603372 - - - Reactome - P16473 - - - SwissProt - P16473 - - - ClinVar - TSHR - - - - - 14q24-q31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 662169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662169 - Phelan-McDermid syndrome due to 22q13.3 deletion - - Etiological subtype - - - Subtype of disorder - - - - 21841781[PMID] - - SH3 and multiple ankyrin repeat domains 3 - SHANK3 - - PSAP2 - SPANK-2 - proline rich synapse associated protein 2 - prosap2 - shank postsynaptic density protein - KIAA1650 - shank3 postsynaptic density protein - - - gene with protein product - - - - Reactome - Q9BYB0 - - - ClinVar - SHANK3 - - - Ensembl - ENSG00000251322 - - - Genatlas - SHANK3 - - - HGNC - 14294 - - - OMIM - 606230 - - - SwissProt - Q9BYB0 - - - - - 22q13.33 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 662179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662179 - Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - 32109420[PMID] - - speckle type BTB/POZ protein - SPOP - - BTBD32 - TEF2 - - - gene with protein product - - - - SwissProt - O43791 - - - HGNC - 11254 - - - Ensembl - ENSG00000121067 - - - OMIM - 602650 - - - ClinVar - SPOP - - - Genatlas - SPOP - - - - - 17q21.33 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 662175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662175 - Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - 32109420[PMID] - - speckle type BTB/POZ protein - SPOP - - BTBD32 - TEF2 - - - gene with protein product - - - - SwissProt - O43791 - - - HGNC - 11254 - - - Ensembl - ENSG00000121067 - - - OMIM - 602650 - - - ClinVar - SPOP - - - Genatlas - SPOP - - - - - 17q21.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 662189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662189 - Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome - - Malformation syndrome - - - Disorder - - - - 31079900[PMID] - - heterogeneous nuclear ribonucleoprotein R - HNRNPR - - hnRNP-R - - - gene with protein product - - - - HGNC - 5047 - - - OMIM - 607201 - - - Ensembl - ENSG00000125944 - - - SwissProt - O43390 - - - - - 1p36.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 662184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662184 - Congenital muscular dystrophy-cataract-intellectual disability syndrome - - Disease - - - Disorder - - - - 28190459[PMID]_28190456[PMID]_33792664[PMID] - - inositol polyphosphate-5-phosphatase K - INPP5K - - skeletal muscle and kidney enriched inositol phosphatase - SKIP - - - gene with protein product - - - - HGNC - 33882 - - - Ensembl - ENSG00000132376 - - - OMIM - 607875 - - - SwissProt - Q9BT40 - - - Genatlas - INPP5K - - - Reactome - R-HSA-1806175 - - - IUPHAR - 1458 - - - ClinVar - INPP5K - - - - - 17p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 662198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662198 - Neurodevelopmental delay-intellectual disability-skeletal defects syndrome - - Malformation syndrome - - - Disorder - - - - 31670473[PMID]_33728377[PMID]_27545675[PMID] - - heterogeneous nuclear ribonucleoprotein H2 - HNRNPH2 - - hnRNPH' - FTP3 - HNRPH' - - - gene with protein product - - - - HGNC - 5042 - - - Ensembl - ENSG00000126945 - - - SwissProt - P55795 - - - Reactome - P55795 - - - OMIM - 300610 - - - - - Xq22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99796 - Subcortical band heterotopia - - Morphological anomaly - - - Disorder - - - - - - doublecortin - DCX - - doublecortex - DBCN - DC - LISX - SCLH - XLIS - - - gene with protein product - - - - Ensembl - ENSG00000077279 - - - Genatlas - DCX - - - HGNC - 2714 - - - OMIM - 300121 - - - Reactome - O43602 - - - SwissProt - O43602 - - - ClinVar - DCX - - - - - Xq23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20301752[PMID] - - platelet activating factor acetylhydrolase 1b regulatory subunit 1 - PAFAH1B1 - - LIS1 - PAFAH - lissencephaly-1 - NudF - - - gene with protein product - - - - Ensembl - ENSG00000007168 - - - Genatlas - PAFAH1B1 - - - HGNC - 8574 - - - OMIM - 601545 - - - Reactome - P43034 - - - SwissProt - P43034 - - - ClinVar - PAFAH1B1 - - - - - 17p13.3 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 24859200[PMID] - - EMAP like 1 - EML1 - - ELP79 - EMAP - HuEMAP - - - gene with protein product - - - - Reactome - O00423 - - - ClinVar - EML1 - - - Ensembl - ENSG00000066629 - - - Genatlas - EML1 - - - HGNC - 3330 - - - OMIM - 602033 - - - SwissProt - O00423 - - - - - 14q32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99798 - Oligodontia - - Morphological anomaly - - - Disorder - - - - - - small ubiquitin like modifier 1 - SUMO1 - - GMP1 - OFC10 - PIC1 - SMT3C - SMT3H3 - SUMO-1 - - - gene with protein product - - - - ClinVar - SUMO1 - - - Ensembl - ENSG00000116030 - - - Genatlas - SUMO1 - - - HGNC - 12502 - - - OMIM - 601912 - - - Reactome - P63165 - - - SwissProt - P63165 - - - - - 2q33.1 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - ectodysplasin A - EDA - - ED1-A1 - ED1-A2 - EDA-A1 - EDA-A2 - EDA1 - HED - XHED - XLHED - - - gene with protein product - - - - Ensembl - ENSG00000158813 - - - Genatlas - EDA - - - HGNC - 3157 - - - OMIM - 300451 - - - Reactome - Q92838 - - - SwissProt - Q92838 - - - ClinVar - EDA - - - - - Xq13.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - EDAR associated via death domain - EDARADD - - crinkled - Ectodysplasin-A receptor-associated adapter protein - CR - - - gene with protein product - - - - Ensembl - ENSG00000186197 - - - Genatlas - EDARADD - - - HGNC - 14341 - - - OMIM - 606603 - - - Reactome - Q8WWZ3 - - - SwissProt - Q8WWZ3 - - - ClinVar - EDARADD - - - - - 1q42.3-q43 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - fibroblast growth factor receptor 1 - FGFR1 - - BFGFR - CD331 - CEK - FLG - H2 - H3 - H4 - H5 - N-SAM - Pfeiffer syndrome - - - gene with protein product - - - - Ensembl - ENSG00000077782 - - - Genatlas - FGFR1 - - - HGNC - 3688 - - - IUPHAR - 1808 - - - OMIM - 136350 - - - Reactome - P11362 - - - SwissProt - P11362 - - - ClinVar - FGFR1 - - - - - 8p11.23 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - interferon regulatory factor 6 - IRF6 - - OFC6 - VWS1 - - - gene with protein product - - - - ClinVar - IRF6 - - - Ensembl - ENSG00000117595 - - - Genatlas - IRF6 - - - HGNC - 6121 - - - OMIM - 607199 - - - Reactome - O14896 - - - SwissProt - O14896 - - - - - 1q32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - Wnt family member 10A - WNT10A - - - - gene with protein product - - - - ClinVar - WNT10A - - - HGNC - 13829 - - - OMIM - 606268 - - - Reactome - Q9GZT5 - - - SwissProt - Q9GZT5 - - - Ensembl - ENSG00000135925 - - - Genatlas - WNT10A - - - - - 2q35 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - msh homeobox 1 - MSX1 - - HYD1 - OFC5 - - - gene with protein product - - - - ClinVar - MSX1 - - - HGNC - 7391 - - - OMIM - 142983 - - - SwissProt - P28360 - - - Ensembl - ENSG00000163132 - - - Genatlas - MSX1 - - - - - 4p16.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - paired box 9 - PAX9 - - - - gene with protein product - - - - Reactome - P55771 - - - Ensembl - ENSG00000198807 - - - Genatlas - PAX9 - - - HGNC - 8623 - - - OMIM - 167416 - - - SwissProt - P55771 - - - ClinVar - PAX9 - - - - - 14q13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - transforming growth factor alpha - TGFA - - - - gene with protein product - - - - ClinVar - TGFA - - - Ensembl - ENSG00000163235 - - - Genatlas - TGFA - - - HGNC - 11765 - - - OMIM - 190170 - - - Reactome - P01135 - - - SwissProt - P01135 - - - - - 2p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26387593[PMID] - - LDL receptor related protein 6 - LRP6 - - ADCAD2 - - - gene with protein product - - - - Ensembl - ENSG00000070018 - - - Genatlas - LRP6 - - - HGNC - 6698 - - - OMIM - 603507 - - - Reactome - O75581 - - - SwissProt - O75581 - - - ClinVar - LRP6 - - - - - 12p13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 26416033[PMID] - - gremlin 2, DAN family BMP antagonist - GREM2 - - - - gene with protein product - - - - HGNC - 17655 - - - - - 1q43 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27321946[PMID] - - Wnt family member 10B - WNT10B - - SHFM6 - WNT-12 - - - gene with protein product - - - - ClinVar - WNT10B - - - Ensembl - ENSG00000169884 - - - Genatlas - WNT10B - - - HGNC - 12775 - - - OMIM - 601906 - - - Reactome - O00744 - - - SwissProt - O00744 - - - - - 12q13.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99802 - Hemimegalencephaly - - Malformation syndrome - - - Disorder - - - - 22729223[PMID] - - phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha - PIK3CA - - PI3K - - - gene with protein product - - - - Reactome - P42336 - - - SwissProt - P42336 - - - Ensembl - ENSG00000121879 - - - Genatlas - PIK3CA - - - HGNC - 8975 - - - IUPHAR - 2153 - - - OMIM - 171834 - - - ClinVar - PIK3CA - - - - - 3q26.32 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 22500628[PMID] - - AKT serine/threonine kinase 3 - AKT3 - - PKBG - PRKBG - RAC-gamma - protein kinase B, gamma - - - gene with protein product - - - - Ensembl - ENSG00000117020 - - - Genatlas - AKT3 - - - HGNC - 393 - - - IUPHAR - 2286 - - - OMIM - 611223 - - - Reactome - Q9Y243 - - - SwissProt - Q9Y243 - - - ClinVar - AKT3 - - - - - 1q43-q44 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - 32140648[PMID] - - mechanistic target of rapamycin kinase - MTOR - - FK506 binding protein 12-rapamycin associated protein 2 - FKBP-rapamycin associated protein - FKBP12-rapamycin complex-associated protein 1 - FLJ44809 - RAFT1 - RAPT1 - dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1) - mammalian target of rapamycin - rapamycin and FKBP12 target 1 - rapamycin associated protein FRAP2 - rapamycin target protein - - - gene with protein product - - - - Ensembl - ENSG00000198793 - - - Genatlas - MTOR - - - HGNC - 3942 - - - IUPHAR - 2109 - - - OMIM - 601231 - - - Reactome - P42345 - - - SwissProt - P42345 - - - ClinVar - MTOR - - - - - 1p36.22 - 1 - - - - - Disease-causing somatic mutation(s) in - - - Assessed - - - - - - 659873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659873 - Wormian bones-micrognathia-abnormal dentition-progeroid syndrome - - Malformation syndrome - - - Disorder - - - - 37867468[PMID]_30905398[PMID] - - LEM domain nuclear envelope protein 2 - LEMD2 - - dJ482C21.1 - NET25 - LEM2 - lamina-associated polypeptide-emerin-MAN1 domain containing 2 - - - gene with protein product - - - - HGNC - 21244 - - - OMIM - 616312 - - - Genatlas - LEMD2 - - - SwissProt - Q8NC56 - - - Reactome - Q8NC56 - - - Ensembl - ENSG00000161904 - - - ClinVar - LEMD2 - - - - - 6p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99803 - Haddad syndrome - - Malformation syndrome - - - Disorder - - - - - - paired like homeobox 2B - PHOX2B - - NBPhox - Phox2b - - - gene with protein product - - - - ClinVar - PHOX2B - - - Genatlas - PHOX2B - - - HGNC - 9143 - - - OMIM - 603851 - - - SwissProt - Q99453 - - - Ensembl - ENSG00000109132 - - - - - 4p13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 9565426[PMID] - - ret proto-oncogene - RET - - CDHF12 - CDHR16 - PTC - RET receptor tyrosine kinase - RET51 - cadherin-related family member 16 - rearranged during transfection - - - gene with protein product - - - - ClinVar - RET - - - Ensembl - ENSG00000165731 - - - Genatlas - RET - - - HGNC - 9967 - - - IUPHAR - 2185 - - - OMIM - 164761 - - - SwissProt - P07949 - - - Reactome - P07949 - - - - - 10q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - achaete-scute family bHLH transcription factor 1 - ASCL1 - - ASH1 - HASH1 - bHLHa46 - - - gene with protein product - - - - Ensembl - ENSG00000139352 - - - Genatlas - ASCL1 - - - HGNC - 738 - - - OMIM - 100790 - - - SwissProt - P50553 - - - ClinVar - ASCL1 - - - Reactome - P50553 - - - - - 12q23.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99806 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99806 - Oculootodental syndrome - - Malformation syndrome - - - Disorder - - - - 17656375[PMID] - - fibroblast growth factor 3 - FGF3 - - HBGF-3 - INT-2 proto-oncogene protein - V-INT2 murine mammary tumor virus integration site oncogene homolog - murine mammary tumor virus integration site 2, mouse - oncogene INT2 - - - gene with protein product - - - - ClinVar - FGF3 - - - Ensembl - ENSG00000186895 - - - Genatlas - FGF3 - - - HGNC - 3681 - - - OMIM - 164950 - - - Reactome - P11487 - - - SwissProt - P11487 - - - - - 11q13.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - 17656375[PMID] - - Fas associated via death domain - FADD - - Fas-associating death domain-containing protein - Fas-associating protein with death domain - GIG3 - Growth-inhibiting gene 3 protein - MORT1 - Mediator of receptor-induced toxicity - growth-inhibiting gene 3 protein - mediator of receptor-induced toxicity - - - gene with protein product - - - - Ensembl - ENSG00000168040 - - - Genatlas - FADD - - - HGNC - 3573 - - - OMIM - 602457 - - - Reactome - Q13158 - - - SwissProt - Q13158 - - - ClinVar - FADD - - - - - 11q13.3 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 659904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659904 - Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome - - Malformation syndrome - - - Disorder - - - - 33824499[PMID] - - proline rich 12 - PRR12 - - - - gene with protein product - - - - HGNC - 29217 - - - OMIM - 616633 - - - Ensembl - ENSG00000126464 - - - SwissProt - Q9ULL5 - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 99807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99807 - PEHO-like syndrome - - Disease - - - Disorder - - - - 26917597[PMID] - - coiled-coil domain containing 88A - CCDC88A - - Akt-phosphorylation enhancer - APE - FLJ10392 - Galpha-interacting vesicle-associated protein - girders of actin filaments - girdin - GIV - GRDN - HkRP1 - - - gene with protein product - - - - ClinVar - CCDC88A - - - SwissProt - Q3V6T2 - - - HGNC - 25523 - - - OMIM - 609736 - - - Genatlas - CCDC88A - - - Ensembl - ENSG00000115355 - - - - - 2p16.1 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 99810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99810 - Familial porencephaly - - Etiological subtype - - - Subtype of disorder - - - - - - collagen type IV alpha 1 chain - COL4A1 - - - - gene with protein product - - - - ClinVar - COL4A1 - - - Ensembl - ENSG00000187498 - - - Genatlas - COL4A1 - - - HGNC - 2202 - - - OMIM - 120130 - - - Reactome - P02462 - - - SwissProt - P02462 - - - - - 13q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - collagen type IV alpha 2 chain - COL4A2 - - Canstatin - Collagen type IV alpha 2 - DKFZp686I14213 - FLJ22259 - canstatin - - - gene with protein product - - - - Ensembl - ENSG00000134871 - - - Genatlas - COL4A2 - - - HGNC - 2203 - - - OMIM - 120090 - - - Reactome - P08572 - - - SwissProt - P08572 - - - ClinVar - COL4A2 - - - - - 13q34 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 30412317[PMID]_33709034[PMID] - - collagen beta(1-O)galactosyltransferase 1 - COLGALT1 - - Hydroxylysine galactosyltransferase - FLJ22329 - Procollagen galactosyltransferase - - - gene with protein product - - - - Reactome - Q8NBJ5 - - - HGNC - 26182 - - - OMIM - 617531 - - - Ensembl - ENSG00000130309 - - - SwissProt - Q8NBJ5 - - - - - 19p13.11 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 659975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659975 - Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - 34626583[PMID] - - AFG2 AAA ATPase homolog B - AFG2B - - MGC5347 - FLJ12286 - - - gene with protein product - - - - HGNC - 28762 - - - Ensembl - ENSG00000171763 - - - OMIM - 619578 - - - SwissProt - Q9BVQ7 - - - - - 15q21.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 659396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659396 - Cohen-Gibson syndrome - - Malformation syndrome - - - Disorder - - - - 30793471[PMID] - - embryonic ectoderm development - EED - - HEED - WAIT-1 - WD protein associating with integrin cytoplasmic tails 1 - - - gene with protein product - - - - ClinVar - EED - - - IUPHAR - 2487 - - - HGNC - 3188 - - - Ensembl - ENSG00000074266 - - - OMIM - 605984 - - - SwissProt - O75530 - - - Genatlas - EED - - - Reactome - R-HSA-212278 - - - - - 11q14.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 658951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658951 - Early-onset immune dysregulation due to DOCK11 complete deficiency - - Disease - - - Disorder - - - - 37342957[PMID] - - dedicator of cytokinesis 11 - DOCK11 - - ACG - ZIZ2 - FLJ43653 - FLJ32122 - zizimin2 - - - gene with protein product - - - - Ensembl - ENSG00000147251 - - - OMIM - 300681 - - - Reactome - Q5JSL3 - - - SwissProt - Q5JSL3 - - - HGNC - 23483 - - - - - Xq24 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 659609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659609 - Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome - - Malformation syndrome - - - Disorder - - - - 35851598[PMID] - - Rac family small GTPase 3 - RAC3 - - - - gene with protein product - - - - OMIM - 602050 - - - SwissProt - P60763 - - - HGNC - 9803 - - - Ensembl - ENSG00000169750 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 659463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659463 - Imagawa-Matsumoto syndrome - - Malformation syndrome - - - Disorder - - - - 30019515[PMID] - - SUZ12 polycomb repressive complex 2 subunit - SUZ12 - - JJAZ1 - KIAA0160 - CHET9 - - - gene with protein product - - - - ClinVar - SUZ12 - - - Ensembl - ENSG00000178691 - - - Genatlas - SUZ12 - - - HGNC - 17101 - - - OMIM - 606245 - - - Reactome - Q15022 - - - SwissProt - Q15022 - - - - - 17q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 659672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659672 - Harderoporphyria - - Disease - - - Disorder - - - - 30828546[PMID] - - coproporphyrinogen oxidase - CPOX - - CPX - HCP - coproporphyria - homozygous coproporphyria - - - gene with protein product - - - - Ensembl - ENSG00000080819 - - - Genatlas - CPOX - - - HGNC - 2321 - - - OMIM - 612732 - - - Reactome - P36551 - - - SwissProt - P36551 - - - ClinVar - CPOX - - - - - 3q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99789 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99789 - Dentin dysplasia type I - - Clinical subtype - - - Subtype of disorder - - - - 27680507[PMID] - - ssu-2 homolog - SSUH2 - - fls485 - ssu-2 - - - gene with protein product - - - - HGNC - 24809 - - - Ensembl - ENSG00000125046 - - - SwissProt - Q9Y2M2 - - - OMIM - 617479 - - - - - 3p25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - dentin sialophosphoprotein - DSPP - - DMP3 - - - gene with protein product - - - - ClinVar - DSPP - - - HGNC - 3054 - - - OMIM - 125485 - - - Reactome - Q9NZW4 - - - SwissProt - Q9NZW4 - - - Ensembl - ENSG00000152591 - - - Genatlas - DSPP - - - - - 4q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 27247351[PMID] - - vacuolar protein sorting 4 homolog B - VPS4B - - SKD1B - VPS4-2 - - - gene with protein product - - - - ClinVar - VPS4B - - - HGNC - 10895 - - - OMIM - 609983 - - - Genatlas - VPS4B - - - SwissProt - O75351 - - - Reactome - O75351 - - - Ensembl - ENSG00000119541 - - - - - 18q21.33 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 659702 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659702 - Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome - - Malformation syndrome - - - Disorder - - - - 35300924[PMID] - - archain 1 - ARCN1 - - COPI coat complex subunit delta - - - gene with protein product - - - - HGNC - 649 - - - ClinVar - ARCN1 - - - OMIM - 600820 - - - Ensembl - ENSG00000095139 - - - Genatlas - ARCN1 - - - SwissProt - P48444 - - - Reactome - P48444 - - - - - 11q23.3 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 99791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99791 - Dentin dysplasia type II - - Clinical subtype - - - Subtype of disorder - - - - - - dentin sialophosphoprotein - DSPP - - DMP3 - - - gene with protein product - - - - ClinVar - DSPP - - - HGNC - 3054 - - - OMIM - 125485 - - - Reactome - Q9NZW4 - - - SwissProt - Q9NZW4 - - - Ensembl - ENSG00000152591 - - - Genatlas - DSPP - - - - - 4q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 658778 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658778 - COQ7-related distal hereditary motor neuropathy - - Disease - - - Disorder - - - - 37077559[PMID] - - coenzyme Q7, hydroxylase - COQ7 - - CAT5 - CLK-1 - 5-demethoxyubiquinone hydroxylase - - - gene with protein product - - - - OMIM - 601683 - - - Ensembl - ENSG00000167186 - - - SwissProt - Q99807 - - - HGNC - 2244 - - - Genatlas - COQ7 - - - Reactome - Q99807 - - - ClinVar - COQ7 - - - - - 16p12.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 658595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658595 - DNMT3A-related microcephalic dwarfism - - Malformation syndrome - - - Disorder - - - - 37517811[PMID] - - DNA methyltransferase 3 alpha - DNMT3A - - - - gene with protein product - - - - ClinVar - DNMT3A - - - Ensembl - ENSG00000119772 - - - Genatlas - DNMT3A - - - HGNC - 2978 - - - IUPHAR - 2750 - - - OMIM - 602769 - - - Reactome - Q9Y6K1 - - - SwissProt - Q9Y6K1 - - - - - 2p23.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 658813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658813 - Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency - - Disease - - - Disorder - - - - 21813566[PMID] - - methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 - MTHFD1 - - - - gene with protein product - - - - Ensembl - ENSG00000100714 - - - Genatlas - MTHFD1 - - - HGNC - 7432 - - - OMIM - 172460 - - - Reactome - P11586 - - - SwissProt - P11586 - - - ClinVar - MTHFD1 - - - - - 14q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 658843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658843 - Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - 28017373[PMID] - - EBF transcription factor 3 - EBF3 - - COE3 - DKFZp667B0210 - Transcription factor COE3 - - - gene with protein product - - - - HGNC - 19087 - - - Ensembl - ENSG00000108001 - - - SwissProt - Q9H4W6 - - - OMIM - 607407 - - - Genatlas - EBF3 - - - ClinVar - EBF3 - - - - - 10q26.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 99772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99772 - Cleft velum - - Morphological anomaly - - - Disorder - - - - 27018472[PMID]_27018475[PMID] - - grainyhead like transcription factor 3 - GRHL3 - - SOM - sister-of-mammalian grainyhead - - - gene with protein product - - - - Reactome - Q8TE85 - - - Ensembl - ENSG00000158055 - - - Genatlas - GRHL3 - - - HGNC - 25839 - - - OMIM - 608317 - - - SwissProt - Q8TE85 - - - ClinVar - GRHL3 - - - - - 1p36.11 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - 17468296[PMID] - - ubiquitin B - UBB - - FLJ25987 - MGC8385 - polyubiquitin B - - - gene with protein product - - - - OMIM - 191339 - - - Ensembl - ENSG00000170315 - - - HGNC - 12463 - - - Genatlas - UBB - - - SwissProt - P0CG47 - - - Reactome - P0CG47 - - - ClinVar - UBB - - - - - 17p11.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - - - 99771 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99771 - Bifid uvula - - Morphological anomaly - - - Disorder - - - - 17468296[PMID] - - ubiquitin B - UBB - - FLJ25987 - MGC8385 - polyubiquitin B - - - gene with protein product - - - - OMIM - 191339 - - - Ensembl - ENSG00000170315 - - - HGNC - 12463 - - - Genatlas - UBB - - - SwissProt - P0CG47 - - - Reactome - P0CG47 - - - ClinVar - UBB - - - - - 17p11.2 - 1 - - - - - Candidate gene tested in - - - Not yet assessed - - - - 27018472[PMID]_27018475[PMID] - - grainyhead like transcription factor 3 - GRHL3 - - SOM - sister-of-mammalian grainyhead - - - gene with protein product - - - - Reactome - Q8TE85 - - - Ensembl - ENSG00000158055 - - - Genatlas - GRHL3 - - - HGNC - 25839 - - - OMIM - 608317 - - - SwissProt - Q8TE85 - - - ClinVar - GRHL3 - - - - - 1p36.11 - 1 - - - - - Major susceptibility factor in - - - Assessed - - - - - - 658946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658946 - Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency - - Disease - - - Disorder - - - - 36952639[PMID] - - dedicator of cytokinesis 11 - DOCK11 - - ACG - ZIZ2 - FLJ43653 - FLJ32122 - zizimin2 - - - gene with protein product - - - - Ensembl - ENSG00000147251 - - - OMIM - 300681 - - - Reactome - Q5JSL3 - - - SwissProt - Q5JSL3 - - - HGNC - 23483 - - - - - Xq24 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 631073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631073 - Autosomal recessive spastic paraplegia type 82 - - Disease - - - Disorder - - - - 31637422[PMID] - - phosphate cytidylyltransferase 2, ethanolamine - PCYT2 - - CTP:phosphoethanolamine cytidylyltransferase - phosphorylethanolamine transferase - ET - ethanolamine-phosphate cytidylyltransferase: - - - gene with protein product - - - - HGNC - 8756 - - - OMIM - 602679 - - - Ensembl - ENSG00000185813 - - - SwissProt - Q99447 - - - - - 17q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 631076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631076 - Autosomal recessive spastic paraplegia type 83 - - Disease - - - Disorder - - - - 33188300[PMID] - - 4-hydroxyphenylpyruvate dioxygenase like - HPDL - - MGC15668 - 4-HPPD-L - - - gene with protein product - - - - HGNC - 28242 - - - Ensembl - ENSG00000186603 - - - OMIM - 618994 - - - SwissProt - Q96IR7 - - - - - 1p34.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 631079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631079 - Autosomal recessive spastic paraplegia type 84 - - Disease - - - Disorder - - - - 34415322[PMID] - - phosphatidylinositol 4-kinase alpha - PI4KA - - phosphatidylinositol 4-kinase III alpha - PI4K-ALPHA - pi4K230 - phosphatidylinositol 4-kinase IIIa - - - gene with protein product - - - - Ensembl - ENSG00000241973 - - - Genatlas - PI4KA - - - HGNC - 8983 - - - IUPHAR - 2148 - - - OMIM - 600286 - - - Reactome - P42356 - - - SwissProt - P42356 - - - ClinVar - PI4KA - - - - - 22q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 631082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631082 - Autosomal recessive spastic paraplegia type 85 - - Disease - - - Disorder - - - - 31636353[PMID] - - ring finger protein 170 - RNF170 - - ADSA - DKFZP564A022 - - - gene with protein product - - - - SwissProt - Q96K19 - - - Ensembl - ENSG00000120925 - - - ClinVar - RNF170 - - - HGNC - 25358 - - - OMIM - 614649 - - - Genatlas - RNF170 - - - - - 8p11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 631068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631068 - Autosomal dominant spastic paraplegia type 80 - - Disease - - - Disorder - - - - 30929741[PMID] - - ubiquitin associated protein 1 - UBAP1 - - - - gene with protein product - - - - HGNC - 12461 - - - Ensembl - ENSG00000165006 - - - OMIM - 609787 - - - SwissProt - Q9NZ09 - - - - - 9p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 631106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631106 - Spinocerebellar ataxia type 49 - - Disease - - - Disorder - - - - 35310830[PMID] - - sterile alpha motif domain containing 9 like - SAMD9L - - FLJ39885 - KIAA2005 - - - gene with protein product - - - - HGNC - 1349 - - - OMIM - 611170 - - - Genatlas - SAMD9L - - - ClinVar - SAMD9L - - - SwissProt - Q8IVG5 - - - Ensembl - ENSG00000177409 - - - - - 7q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 631103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631103 - Spinocerebellar ataxia type 48 - - Disease - - - Disorder - - - - 30381368[PMID] - - STIP1 homology and U-box containing protein 1 - STUB1 - - CHIP - HSPABP2 - NY-CO-7 - SDCCAG7 - UBOX1 - - - gene with protein product - - - - IUPHAR - 3202 - - - Ensembl - ENSG00000103266 - - - Genatlas - STUB1 - - - HGNC - 11427 - - - OMIM - 607207 - - - Reactome - Q9UNE7 - - - SwissProt - Q9UNE7 - - - ClinVar - STUB1 - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 631095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631095 - Spinocerebellar ataxia type 44 - - Disease - - - Disorder - - - - 28886343[PMID] - - glutamate metabotropic receptor 1 - GRM1 - - GPRC1A - MGLUR1 - PPP1R85 - mGlu1 - protein phosphatase 1, regulatory subunit 85 - - - gene with protein product - - - - Ensembl - ENSG00000152822 - - - Genatlas - GRM1 - - - HGNC - 4593 - - - IUPHAR - 289 - - - OMIM - 604473 - - - Reactome - Q13255 - - - SwissProt - Q13255 - - - ClinVar - GRM1 - - - - - 6q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 631088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631088 - Autosomal recessive spastic paraplegia type 87 - - Disease - - - Disorder - - - - 35718349[PMID] - - transmembrane protein 63C - TMEM63C - - CSC1 - DKFZp434P0111 - calcium permeable stress-gated cation channel 1 homolog (Arabidopsis) - hsCSC1 - - - gene with protein product - - - - Ensembl - ENSG00000165548 - - - OMIM - 619953 - - - SwissProt - Q9P1W3 - - - HGNC - 23787 - - - - - 14q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 631085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631085 - Autosomal recessive spastic paraplegia type 86 - - Disease - - - Disorder - - - - 34489854[PMID] - - abhydrolase domain containing 16A, phospholipase - ABHD16A - - Phosphatidylserine lipase ABHD16A - NG26 - D6S82E - - - gene with protein product - - - - Ensembl - ENSG00000204427 - - - HGNC - 13921 - - - OMIM - 142620 - - - SwissProt - O95870 - - - - - 6p21.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 631248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631248 - Mitchell Syndrome - - Disease - - - Disorder - - - - 32169171[PMID] - - acyl-CoA oxidase 1 - ACOX1 - - PALMCOX - palmitoyl-CoA oxidase - - - gene with protein product - - - - ClinVar - ACOX1 - - - Ensembl - ENSG00000161533 - - - Genatlas - ACOX1 - - - HGNC - 119 - - - OMIM - 609751 - - - Reactome - Q15067 - - - SwissProt - Q15067 - - - - - 17q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 634475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634475 - Mosaic NF2-related schwannomatosis - - Disease - - - Disorder - - - - 35674741[PMID] - - NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor - NF2 - - Merlin - moesin-ezrin-radixin like - schwannomin - ACN - BANF - SCH - merlin-1 - bilateral acoustic neurofibromatosis - merlin - - - gene with protein product - - - - Ensembl - ENSG00000186575 - - - Genatlas - NF2 - - - HGNC - 7773 - - - OMIM - 607379 - - - Reactome - P35240 - - - SwissProt - P35240 - - - ClinVar - NF2 - - - - - 22q12.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 636970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636970 - Autosomal recessive myosin storage myopathy - - Clinical subtype - - - Subtype of disorder - - - - 17372140[PMID] - - myosin heavy chain 7 - MYH7 - - CMD1S - - - gene with protein product - - - - ClinVar - MYH7 - - - OMIM - 160760 - - - Reactome - P12883 - - - SwissProt - P12883 - - - Ensembl - ENSG00000092054 - - - Genatlas - MYH7 - - - HGNC - 7577 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 636965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636965 - Autosomal dominant myosin storage myopathy - - Clinical subtype - - - Subtype of disorder - - - - 21288719[PMID] - - myosin heavy chain 7 - MYH7 - - CMD1S - - - gene with protein product - - - - ClinVar - MYH7 - - - OMIM - 160760 - - - Reactome - P12883 - - - SwissProt - P12883 - - - Ensembl - ENSG00000092054 - - - Genatlas - MYH7 - - - HGNC - 7577 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 637013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637013 - SMARCA2-related blepharophimosis-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - 32694869[PMID] - - SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 - SMARCA2 - - brahma homolog - BAF190 - BRM - SNF2 - SNF2LA - SWI2 - Sth1p - hBRM - hSNF2a - - - gene with protein product - - - - Ensembl - ENSG00000080503 - - - Genatlas - SMARCA2 - - - HGNC - 11098 - - - IUPHAR - 2739 - - - OMIM - 600014 - - - Reactome - P51531 - - - SwissProt - P51531 - - - ClinVar - SMARCA2 - - - - - 9p24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 636941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636941 - Vascular Ehlers-Danlos-polymicrogyria syndrome - - Disease - - - Disorder - - - - 28742248[PMID] - - collagen type III alpha 1 chain - COL3A1 - - - - gene with protein product - - - - ClinVar - COL3A1 - - - Ensembl - ENSG00000168542 - - - Genatlas - COL3A1 - - - HGNC - 2201 - - - OMIM - 120180 - - - Reactome - P02461 - - - SwissProt - P02461 - - - - - 2q32.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 641375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641375 - B-lymphoblastic leukemia/lymphoma with t(17;19) - - Etiological subtype - - - Subtype of disorder - - - - 20519628[PMID] - - HLF transcription factor, PAR bZIP family member - HLF - - MGC33822 - - - gene with protein product - - - - Ensembl - ENSG00000108924 - - - Genatlas - HLF - - - HGNC - 4977 - - - OMIM - 142385 - - - SwissProt - Q16534 - - - ClinVar - HLF - - - - - 17q22 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 23346431[PMID] - - transcription factor 3 - TCF3 - - E2A - E2A immunoglobulin enhancer-binding factor E12/E47 - E47 - ITF1 - MGC129647 - MGC129648 - VDIR - VDR interacting repressor - bHLHb21 - immunoglobulin transcription factor 1 - kappa-E2-binding factor - transcription factor E2-alpha - p75 - - - gene with protein product - - - - Ensembl - ENSG00000071564 - - - Genatlas - TCF3 - - - HGNC - 11633 - - - OMIM - 147141 - - - Reactome - P15923 - - - SwissProt - P15923 - - - ClinVar - TCF3 - - - - - 19p13.3 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 641368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641368 - Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency - - Disease - - - Disorder - - - - 30264496[PMID] - - zinc finger protein 341 - ZNF341 - - dJ553F4.3 - - - gene with protein product - - - - HGNC - 15992 - - - Ensembl - ENSG00000131061 - - - SwissProt - Q9BYN7 - - - Reactome - Q9BYN7 - - - OMIM - 618269 - - - - - 20q11.22 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 641372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641372 - B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) - - Etiological subtype - - - Subtype of disorder - - - - 21962897[PMID]_22578776[PMID]_17179230[PMID] - - paired box 5 - PAX5 - - B-cell lineage specific activator - BSAP - PAX-5 - - - gene with protein product - - - - Ensembl - ENSG00000196092 - - - Genatlas - PAX5 - - - HGNC - 8619 - - - OMIM - 167414 - - - SwissProt - Q02548 - - - ClinVar - PAX5 - - - Reactome - Q02548 - - - - - 9p13.2 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - 22578776[PMID] - - activator of transcription and developmental regulator AUTS2 - AUTS2 - - FBRSL2 - KIAA0442 - - - gene with protein product - - - - ClinVar - AUTS2 - - - Ensembl - ENSG00000158321 - - - Genatlas - AUTS2 - - - HGNC - 14262 - - - OMIM - 607270 - - - SwissProt - Q8WXX7 - - - Reactome - Q8WXX7 - - - - - 7q11.22 - 1 - - - - - Part of a fusion gene in - - - Assessed - - - - - - 641353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641353 - Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome - - Disease - - - Disorder - - - - 33188300[PMID] - - 4-hydroxyphenylpyruvate dioxygenase like - HPDL - - MGC15668 - 4-HPPD-L - - - gene with protein product - - - - HGNC - 28242 - - - Ensembl - ENSG00000186603 - - - OMIM - 618994 - - - SwissProt - Q96IR7 - - - - - 1p34.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 641361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641361 - Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome - - Disease - - - Disorder - - - - 30950035[PMID]_32504085[PMID] - - exosome component 5 - EXOSC5 - - RRP41B - exosome component Rrp46 - p12B - MGC12901 - hRrp46p - RRP46 - Rrp46p - - - gene with protein product - - - - Ensembl - ENSG00000077348 - - - HGNC - 24662 - - - OMIM - 606492 - - - SwissProt - Q9NQT4 - - - - - 19q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 642976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642976 - Perrault syndrome type 2 - - Clinical subtype - - - Subtype of disorder - - - - 34715011[PMID] - - protein only RNase P catalytic subunit - PRORP - - mitochondrial RNase P subunit 3 - MRPP3 - proteinaceous RNase P - Mitochondrial ribonuclease P catalytic subunit - - - gene with protein product - - - - Ensembl - ENSG00000100890 - - - OMIM - 609947 - - - SwissProt - O15091 - - - HGNC - 19958 - - - - - 14q13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 23541340[PMID] - - caseinolytic mitochondrial matrix peptidase proteolytic subunit - CLPP - - ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human - - - gene with protein product - - - - IUPHAR - 3273 - - - ClinVar - CLPP - - - Ensembl - ENSG00000125656 - - - Genatlas - CLPP - - - HGNC - 2084 - - - OMIM - 601119 - - - SwissProt - Q16740 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26970254[PMID] - - Era like 12S mitochondrial rRNA chaperone 1 - ERAL1 - - HERA-B - - - gene with protein product - - - - ClinVar - ERAL1 - - - HGNC - 3424 - - - Ensembl - ENSG00000132591 - - - SwissProt - O75616 - - - OMIM - 607435 - - - Genatlas - ERAL1 - - - Reactome - O75616 - - - - - 17q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21464306[PMID] - - histidyl-tRNA synthetase 2, mitochondrial - HARS2 - - HARSR - HO3 - histidine tRNA ligase 2, mitochondrial (putative) - - - gene with protein product - - - - ClinVar - HARS2 - - - Ensembl - ENSG00000112855 - - - Genatlas - HARS2 - - - HGNC - 4817 - - - OMIM - 600783 - - - Reactome - P49590 - - - SwissProt - P49590 - - - - - 5q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20673864[PMID] - - hydroxysteroid 17-beta dehydrogenase 4 - HSD17B4 - - 17-beta-HSD IV - 17-beta-hydroxysteroid dehydrogenase 4 - 17beta-estradiol dehydrogenase type IV - 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase - D-3-hydroxyacyl-CoA dehydratase - D-bifunctional protein, peroxisomal - DBP - MFE-2 - SDR8C1 - beta-hydroxyacyl dehydrogenase - beta-keto-reductase - peroxisomal multifunctional protein 2 - short chain dehydrogenase/reductase family 8C, member 1 - - - gene with protein product - - - - Ensembl - ENSG00000133835 - - - Genatlas - HSD17B4 - - - HGNC - 5213 - - - OMIM - 601860 - - - Reactome - P51659 - - - SwissProt - P51659 - - - ClinVar - HSD17B4 - - - - - 5q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23541342[PMID] - - leucyl-tRNA synthetase 2, mitochondrial - LARS2 - - KIAA0028 - LEURS - Leucine tRNA ligase 2, mitochondrial - MGC26121 - mtLeuRS - leucine tRNA ligase 2, mitochondrial - - - gene with protein product - - - - ClinVar - LARS2 - - - Ensembl - ENSG00000011376 - - - Genatlas - LARS2 - - - HGNC - 17095 - - - OMIM - 604544 - - - Reactome - Q15031 - - - SwissProt - Q15031 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25355836[PMID] - - twinkle mtDNA helicase - TWNK - - FLJ21832 - PEO - PEO1 - T7 helicase-related protein with intramitochondrial nucleoid localization - TWINKLE - TWINL - - - gene with protein product - - - - Ensembl - ENSG00000107815 - - - Genatlas - C10orf2 - - - HGNC - 1160 - - - OMIM - 606075 - - - Reactome - Q96RR1 - - - SwissProt - Q96RR1 - - - ClinVar - C10orf2 - - - - - 10q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32403198[PMID] - - geranylgeranyl diphosphate synthase 1 - GGPS1 - - GGPPS1 - Geranylgeranyl pyrophosphate synthase - - - gene with protein product - - - - HGNC - 4249 - - - Ensembl - ENSG00000152904 - - - SwissProt - O95749 - - - OMIM - 606982 - - - Genatlas - GGPS1 - - - Reactome - O95749 - - - ClinVar - GGPS1 - - - IUPHAR - 643 - - - - - 1q42.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34338890[PMID] - - required for meiotic nuclear division 1 homolog - RMND1 - - FLJ20627 - RMD1 - bA351K16.3 - - - gene with protein product - - - - OMIM - 614917 - - - SwissProt - Q9NWS8 - - - Ensembl - ENSG00000155906 - - - Genatlas - RMND1 - - - HGNC - 21176 - - - ClinVar - RMND1 - - - - - 6q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 642965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642965 - Autosomal recessive ataxia due to PEX2 deficiency - - Disease - - - Disorder - - - - 21392394[PMID] - - peroxisomal biogenesis factor 2 - PEX2 - - PAF-1 - PMP35 - RNF72 - ZWS3 - Zellweger syndrome - peroxin 2 - - - gene with protein product - - - - ClinVar - PEX2 - - - ClinVar - - - - Reactome - P28328 - - - Ensembl - ENSG00000164751 - - - Genatlas - PXMP3 - - - HGNC - 9717 - - - OMIM - 170993 - - - SwissProt - P28328 - - - - - 8q21.13 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 642954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642954 - Autosomal recessive ataxia due to PEX16 deficiency - - Disease - - - Disorder - - - - 26644994[PMID] - - peroxisomal biogenesis factor 16 - PEX16 - - - - gene with protein product - - - - Ensembl - ENSG00000121680 - - - Genatlas - PEX16 - - - HGNC - 8857 - - - OMIM - 603360 - - - SwissProt - Q9Y5Y5 - - - ClinVar - PEX16 - - - Reactome - Q9Y5Y5 - - - - - 11p11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 642945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642945 - Perrault syndrome type 1 - - Clinical subtype - - - Subtype of disorder - - - - 34715011[PMID] - - protein only RNase P catalytic subunit - PRORP - - mitochondrial RNase P subunit 3 - MRPP3 - proteinaceous RNase P - Mitochondrial ribonuclease P catalytic subunit - - - gene with protein product - - - - Ensembl - ENSG00000100890 - - - OMIM - 609947 - - - SwissProt - O15091 - - - HGNC - 19958 - - - - - 14q13.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - 26970254[PMID] - - caseinolytic mitochondrial matrix peptidase proteolytic subunit - CLPP - - ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human - - - gene with protein product - - - - IUPHAR - 3273 - - - ClinVar - CLPP - - - Ensembl - ENSG00000125656 - - - Genatlas - CLPP - - - HGNC - 2084 - - - OMIM - 601119 - - - SwissProt - Q16740 - - - - - 19p13.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 26970254[PMID] - - Era like 12S mitochondrial rRNA chaperone 1 - ERAL1 - - HERA-B - - - gene with protein product - - - - ClinVar - ERAL1 - - - HGNC - 3424 - - - Ensembl - ENSG00000132591 - - - SwissProt - O75616 - - - OMIM - 607435 - - - Genatlas - ERAL1 - - - Reactome - O75616 - - - - - 17q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 21464306[PMID] - - histidyl-tRNA synthetase 2, mitochondrial - HARS2 - - HARSR - HO3 - histidine tRNA ligase 2, mitochondrial (putative) - - - gene with protein product - - - - ClinVar - HARS2 - - - Ensembl - ENSG00000112855 - - - Genatlas - HARS2 - - - HGNC - 4817 - - - OMIM - 600783 - - - Reactome - P49590 - - - SwissProt - P49590 - - - - - 5q31.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 20673864[PMID] - - hydroxysteroid 17-beta dehydrogenase 4 - HSD17B4 - - 17-beta-HSD IV - 17-beta-hydroxysteroid dehydrogenase 4 - 17beta-estradiol dehydrogenase type IV - 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase - D-3-hydroxyacyl-CoA dehydratase - D-bifunctional protein, peroxisomal - DBP - MFE-2 - SDR8C1 - beta-hydroxyacyl dehydrogenase - beta-keto-reductase - peroxisomal multifunctional protein 2 - short chain dehydrogenase/reductase family 8C, member 1 - - - gene with protein product - - - - Ensembl - ENSG00000133835 - - - Genatlas - HSD17B4 - - - HGNC - 5213 - - - OMIM - 601860 - - - Reactome - P51659 - - - SwissProt - P51659 - - - ClinVar - HSD17B4 - - - - - 5q23.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 23541342[PMID] - - leucyl-tRNA synthetase 2, mitochondrial - LARS2 - - KIAA0028 - LEURS - Leucine tRNA ligase 2, mitochondrial - MGC26121 - mtLeuRS - leucine tRNA ligase 2, mitochondrial - - - gene with protein product - - - - ClinVar - LARS2 - - - Ensembl - ENSG00000011376 - - - Genatlas - LARS2 - - - HGNC - 17095 - - - OMIM - 604544 - - - Reactome - Q15031 - - - SwissProt - Q15031 - - - - - 3p21.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 25355836[PMID] - - twinkle mtDNA helicase - TWNK - - FLJ21832 - PEO - PEO1 - T7 helicase-related protein with intramitochondrial nucleoid localization - TWINKLE - TWINL - - - gene with protein product - - - - Ensembl - ENSG00000107815 - - - Genatlas - C10orf2 - - - HGNC - 1160 - - - OMIM - 606075 - - - Reactome - Q96RR1 - - - SwissProt - Q96RR1 - - - ClinVar - C10orf2 - - - - - 10q24.31 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 32403198[PMID] - - geranylgeranyl diphosphate synthase 1 - GGPS1 - - GGPPS1 - Geranylgeranyl pyrophosphate synthase - - - gene with protein product - - - - HGNC - 4249 - - - Ensembl - ENSG00000152904 - - - SwissProt - O95749 - - - OMIM - 606982 - - - Genatlas - GGPS1 - - - Reactome - O95749 - - - ClinVar - GGPS1 - - - IUPHAR - 643 - - - - - 1q42.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34338890[PMID] - - required for meiotic nuclear division 1 homolog - RMND1 - - FLJ20627 - RMD1 - bA351K16.3 - - - gene with protein product - - - - OMIM - 614917 - - - SwissProt - Q9NWS8 - - - Ensembl - ENSG00000155906 - - - Genatlas - RMND1 - - - HGNC - 21176 - - - ClinVar - RMND1 - - - - - 6q25.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 642763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642763 - Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation - - Malformation syndrome - - - Disorder - - - - 31400068[PMID] - - H1.4 linker histone, cluster member - H1-4 - - H1.4 - H1e - H1s-4 - - - gene with protein product - - - - HGNC - 4718 - - - Ensembl - ENSG00000168298 - - - SwissProt - P10412 - - - Reactome - P10412 - - - OMIM - 142220 - - - - - 6p22.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 642747 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642747 - PUM1-related cerebellar ataxia - - Disease - - - Disorder - - - - 31422002[PMID] - - pumilio RNA binding family member 1 - PUM1 - - KIAA0099 - PUMH1 - - - gene with protein product - - - - Ensembl - ENSG00000134644 - - - HGNC - 14957 - - - OMIM - 607204 - - - SwissProt - Q14671 - - - - - 1p35.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 642691 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642691 - Fragile X-associated primary ovarian insufficiency - - Disease - - - Disorder - - - - 36447079[PMID] - - fragile X messenger ribonucleoprotein 1 - FMR1 - - FMRP - FRAXA - MGC87458 - - - gene with protein product - - - - Ensembl - ENSG00000102081 - - - Genatlas - FMR1 - - - HGNC - 3775 - - - OMIM - 309550 - - - SwissProt - Q06787 - - - ClinVar - FMR1 - - - - - Xq27.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 642675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642675 - CHD8 overgrowth syndrome - - Disease - - - Disorder - - - - 24998929[PMID]_26789910[PMID] - - chromodomain helicase DNA binding protein 8 - CHD8 - - DUPLIN - KIAA1564 - - - gene with protein product - - - - Ensembl - ENSG00000100888 - - - Genatlas - CHD8 - - - HGNC - 20153 - - - OMIM - 610528 - - - Reactome - Q9HCK8 - - - SwissProt - Q9HCK8 - - - ClinVar - CHD8 - - - - - 14q11.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 642671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642671 - Familial hyperaldosteronism type IV - - Disease - - - Disorder - - - - 27729216[PMID]_25907736[PMID] - - calcium voltage-gated channel subunit alpha1 H - CACNA1H - - Cav3.2 - - - gene with protein product - - - - Ensembl - ENSG00000196557 - - - Genatlas - CACNA1H - - - HGNC - 1395 - - - IUPHAR - 536 - - - OMIM - 607904 - - - Reactome - O95180 - - - SwissProt - O95180 - - - ClinVar - CACNA1H - - - - - 16p13.3 - 1 - - - - - Disease-causing germline mutation(s) (gain of function) in - - - Assessed - - - - - - 642099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642099 - Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type - - Disease - - - Disorder - - - - 36779427[PMID] - - beta-1,3-galactosyltransferase 6 - B3GALT6 - - beta-1,3-galactosyltransferase-6 - beta3GalT6 - - - gene with protein product - - - - ClinVar - B3GALT6 - - - Ensembl - ENSG00000176022 - - - Genatlas - B3GALT6 - - - HGNC - 17978 - - - OMIM - 615291 - - - Reactome - Q96L58 - - - SwissProt - Q96L58 - - - - - 1p36.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 642085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642085 - EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity - - Disease - - - Disorder - - - - 36779427[PMID] - - exocyst complex component 6B - EXOC6B - - KIAA0919 - - - gene with protein product - - - - ClinVar - EXOC6B - - - HGNC - 17085 - - - Ensembl - ENSG00000144036 - - - OMIM - 607880 - - - SwissProt - Q9Y2D4 - - - Genatlas - EXOC6B - - - Reactome - Q9Y2D4 - - - - - 2p13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 632603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=632603 - Mesomelic dysplasia-digital anomalies-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - 33961779[PMID] - - ALF transcription elongation factor 3 - AFF3 - - MLLT2-like - - - gene with protein product - - - - SwissProt - P51826 - - - Ensembl - ENSG00000144218 - - - HGNC - 6473 - - - OMIM - 601464 - - - - - 2q11.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 633021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633021 - SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome - - Clinical subtype - - - Subtype of disorder - - - - 34797034[PMID] - - solute carrier family 12 member 2 - SLC12A2 - - BSC-2 - NKCC1 - CCC1 - BSC2 - PPP1R141 - bumetanide-sensitive cotransporter type 2 - basolateral Na-K-Cl symporter - protein phosphatase 1, regulatory subunit 141 - - - gene with protein product - - - - HGNC - 10911 - - - Ensembl - ENSG00000064651 - - - SwissProt - P55011 - - - Reactome - P55011 - - - IUPHAR - 969 - - - OMIM - 600840 - - - - - 5q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 633024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633024 - SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome - - Clinical subtype - - - Subtype of disorder - - - - 32658972[PMID] - - solute carrier family 12 member 2 - SLC12A2 - - BSC-2 - NKCC1 - CCC1 - BSC2 - PPP1R141 - bumetanide-sensitive cotransporter type 2 - basolateral Na-K-Cl symporter - protein phosphatase 1, regulatory subunit 141 - - - gene with protein product - - - - HGNC - 10911 - - - Ensembl - ENSG00000064651 - - - SwissProt - P55011 - - - Reactome - P55011 - - - IUPHAR - 969 - - - OMIM - 600840 - - - - - 5q23.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 633004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633004 - KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome - - Disease - - - Disorder - - - - 30929739[PMID] - - lysine demethylase 3B - KDM3B - - NET22 - KIAA1082 - - - gene with protein product - - - - OMIM - 609373 - - - HGNC - 1337 - - - SwissProt - Q7LBC6 - - - IUPHAR - 2674 - - - Ensembl - ENSG00000120733 - - - - - 5q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 633035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633035 - Intellectual disability-early-onset cataract-microcephaly syndrome - - Malformation syndrome - - - Disorder - - - - 33632302[PMID] - - COPI coat complex subunit beta 1 - COPB1 - - - - gene with protein product - - - - HGNC - 2231 - - - Ensembl - ENSG00000129083 - - - OMIM - 600959 - - - SwissProt - P53618 - - - - - 11p15.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 633028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633028 - CPE-related Prader-Willi-like syndrome - - Disease - - - Disorder - - - - 34383079[PMID] - - carboxypeptidase E - CPE - - insulin granule-associated carboxypeptidase - enkephalin convertase - cobalt-stimulated chromaffin granule carboxypeptidase - carboxypeptidase H - - - gene with protein product - - - - HGNC - 2303 - - - Ensembl - ENSG00000109472 - - - OMIM - 114855 - - - IUPHAR - 1595 - - - SwissProt - P16870 - - - - - 4q32.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 615938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615938 - Spastic paraparesis-cataracts-speech delay syndrome - - Clinical syndrome - - - Disorder - - - - 33239752[PMID] - - fatty acyl-CoA reductase 1 - FAR1 - - FLJ22728 - SDR10E1 - short chain dehydrogenase/reductase family 10E, member 1 - - - gene with protein product - - - - Ensembl - ENSG00000197601 - - - Genatlas - FAR1 - - - HGNC - 26222 - - - OMIM - 616107 - - - Reactome - Q8WVX9 - - - SwissProt - Q8WVX9 - - - ClinVar - FAR1 - - - - - 11p15.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 615986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615986 - Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster - - Etiological subtype - - - Subtype of disorder - - - - 27640307[PMID] - - ATPase family AAA domain containing 3A - ATAD3A - - FLJ10709 - - - gene with protein product - - - - Genatlas - ATAD3A - - - Ensembl - ENSG00000197785 - - - ClinVar - ATAD3A - - - Reactome - Q9NVI7 - - - OMIM - 612316 - - - HGNC - 25567 - - - SwissProt - Q9NVI7 - - - - - 1p36.33 - 1 - - - - - Role in the phenotype of - - - Assessed - - - - - - 615983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615983 - Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation - - Etiological subtype - - - Subtype of disorder - - - - 28549128[PMID] - - ATPase family AAA domain containing 3A - ATAD3A - - FLJ10709 - - - gene with protein product - - - - Genatlas - ATAD3A - - - Ensembl - ENSG00000197785 - - - ClinVar - ATAD3A - - - Reactome - Q9NVI7 - - - OMIM - 612316 - - - HGNC - 25567 - - - SwissProt - Q9NVI7 - - - - - 1p36.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 621758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=621758 - Fibrosis-neurodegeneration-cerebral angiomatosis syndrome - - Disease - - - Disorder - - - - 30138417[PMID]_30239752[PMID] - - NHL repeat containing 2 - NHLRC2 - - FLJ33312 - MGC45492 - FLJ20147 - FLJ25621 - DKFZp779F115 - - - gene with protein product - - - - HGNC - 24731 - - - Ensembl - ENSG00000196865 - - - OMIM - 618277 - - - SwissProt - Q8NBF2 - - - - - 10q25.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 620371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620371 - Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation - - Disease - - - Disorder - - - - 34607911[PMID] - - mitochondrially encoded tRNA-Phe (UUU/C) - MT-TF - - trnF - - - Non-coding RNA - - - - SwissProt - - - - Ensembl - ENSG00000210049 - - - Genatlas - MT-TF - - - HGNC - 7481 - - - OMIM - 590070 - - - ClinVar - MT-TF - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - 34607911[PMID] - - mitochondrially encoded tRNA-Ile (AUU/C) - MT-TI - - trnI - - - Non-coding RNA - - - - Ensembl - ENSG00000210100 - - - Genatlas - MT-TI - - - HGNC - 7488 - - - OMIM - 590045 - - - ClinVar - MT-TI - - - SwissProt - - - - - - mitochondria - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 620368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620368 - EGF-related primary hypomagnesemia with intellectual disability - - Disease - - - Disorder - - - - 17671655[PMID] - - epidermal growth factor - EGF - - Pro-epidermal growth factor - - - gene with protein product - - - - ClinVar - EGF - - - Ensembl - ENSG00000138798 - - - Genatlas - EGF - - - HGNC - 3229 - - - OMIM - 131530 - - - Reactome - P01133 - - - SwissProt - P01133 - - - - - 4q25 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 620363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620363 - Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome - - Disease - - - Disorder - - - - 33600043[PMID] - - cyclin and CBS domain divalent metal cation transport mediator 2 - CNNM2 - - SLC70A2 - - - gene with protein product - - - - ClinVar - CNNM2 - - - Ensembl - ENSG00000148842 - - - Genatlas - CNNM2 - - - HGNC - 103 - - - OMIM - 607803 - - - SwissProt - Q9H8M5 - - - Reactome - Q9H8M5 - - - - - 10q24.32 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 620220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620220 - Bartter syndrome type 2 - - Clinical subtype - - - Subtype of disorder - - - - 26963954[PMID] - - potassium inwardly rectifying channel subfamily J member 1 - KCNJ1 - - Kir1.1 - ROMK1 - ATP-sensitive inward rectifier potassium channel 1 - - - gene with protein product - - - - Ensembl - ENSG00000151704 - - - Genatlas - KCNJ1 - - - HGNC - 6255 - - - IUPHAR - 429 - - - OMIM - 600359 - - - Reactome - P48048 - - - SwissProt - P48048 - - - ClinVar - KCNJ1 - - - - - 11q24.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 620158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620158 - Non-syndromic non-specific multisutural craniosynostosis - - Morphological anomaly - - - Disorder - - - - 34719684[PMID] - - fuzzy planar cell polarity protein - FUZ - - CPLANE3 - FLJ22688 - Fy - ciliogenesis and planar polarity effector complex subunit 3 - - - gene with protein product - - - - Ensembl - ENSG00000010361 - - - Genatlas - FUZ - - - HGNC - 26219 - - - OMIM - 610622 - - - Reactome - Q9BT04 - - - SwissProt - Q9BT04 - - - ClinVar - FUZ - - - - - 19q13.33 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 623695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623695 - MIR140-related spondyloepiphyseal dysplasia - - Malformation syndrome - - - Disorder - - - - 30804514[PMID] - - microRNA 140 - MIR140 - - hsa-mir-140 - MIR-140 - - - Non-coding RNA - - - - HGNC - 31527 - - - Ensembl - ENSG00000208017 - - - OMIM - 611894 - - - SwissProt - - - - - - 16q22.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 622925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622925 - X-linked severe syndromic thoracic aortic aneurysm and dissection - - Malformation syndrome - - - Disorder - - - - 27632686[PMID] - - biglycan - BGN - - biglycan proteoglycan - DSPG1 - SLRR1A - - - gene with protein product - - - - ClinVar - BGN - - - HGNC - 1044 - - - OMIM - 301870 - - - Genatlas - BGN - - - SwissProt - P21810 - - - Reactome - P21810 - - - Ensembl - ENSG00000182492 - - - - - Xq28 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 622934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622934 - SBDS-related severe neonatal spondylometaphyseal dysplasia - - Malformation syndrome - - - Disorder - - - - 31633310[PMID] - - SBDS ribosome maturation factor - SBDS - - CGI-97 - FLJ10917 - SDS - SWDS - SDO1 - - - gene with protein product - - - - ClinVar - SBDS - - - Ensembl - ENSG00000126524 - - - Genatlas - SBDS - - - HGNC - 19440 - - - OMIM - 607444 - - - SwissProt - Q9Y3A5 - - - - - 7q11.21 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 617919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617919 - F12-associated cold autoinflammatory syndrome - - Disease - - - Disorder - - - - 31924766[PMID] - - coagulation factor XII - F12 - - Plasma coagulation Factor XIIa - - - gene with protein product - - - - Ensembl - ENSG00000131187 - - - Genatlas - F12 - - - HGNC - 3530 - - - IUPHAR - 2361 - - - OMIM - 610619 - - - Reactome - P00748 - - - ClinVar - F12 - - - SwissProt - P00748 - - - - - 5q35.3 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 619941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619941 - Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency - - Disease - - - Disorder - - - - 32128589[PMID] - - myocardin related transcription factor A - MRTFA - - MKL - BSAC - KIAA1438 - MAL - MRTF-A - basic, SAP and coiled-coil domain - megakaryocytic acute leukemia - myocardin-related transcription factor A - - - gene with protein product - - - - Ensembl - ENSG00000196588 - - - Genatlas - MKL1 - - - HGNC - 14334 - - - OMIM - 606078 - - - Reactome - Q969V6 - - - SwissProt - Q969V6 - - - ClinVar - MKL1 - - - - - 22q13.1-q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 619367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619367 - SAMD9L-associated autoinflammatory syndrome - - Disease - - - Disorder - - - - 31874111[PMID] - - sterile alpha motif domain containing 9 like - SAMD9L - - FLJ39885 - KIAA2005 - - - gene with protein product - - - - HGNC - 1349 - - - OMIM - 611170 - - - Genatlas - SAMD9L - - - ClinVar - SAMD9L - - - SwissProt - Q8IVG5 - - - Ensembl - ENSG00000177409 - - - - - 7q21.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 619953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619953 - Familial hyperinflammatory lymphoproliferative immunodeficiency - - Disease - - - Disorder - - - - 32766723[PMID] - - NCK associated protein 1 like - NCKAP1L - - - - gene with protein product - - - - Ensembl - ENSG00000123338 - - - OMIM - 141180 - - - Reactome - P55160 - - - SwissProt - P55160 - - - HGNC - 4862 - - - - - 12q13.13-q13.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 619948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619948 - Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency - - Disease - - - Disorder - - - - 32853638[PMID] - - suppressor of cytokine signaling 1 - SOCS1 - - JAB - TIP3 - SOCS-1 - SSI-1 - Cish1 - - - gene with protein product - - - - HGNC - 19383 - - - OMIM - 603597 - - - SwissProt - O15524 - - - Ensembl - ENSG00000185338 - - - ClinVar - SOCS1 - - - Genatlas - SOCS1 - - - - - 16p13.13 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 619979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619979 - Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome - - Disease - - - Disorder - - - - 31953710[PMID] - - NFE2 like bZIP transcription factor 2 - NFE2L2 - - NRF2 - NF-E2-related factor 2 - NRF-2 - - - gene with protein product - - - - HGNC - 7782 - - - SwissProt - Q16236 - - - OMIM - 600492 - - - Ensembl - ENSG00000116044 - - - IUPHAR - 3057 - - - ClinVar - NFE2L2 - - - Genatlas - NFE2L2 - - - - - 2q31.2 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 619972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619972 - CADINS disease - - Disease - - - Disorder - - - - 31953710[PMID] - - caspase recruitment domain family member 11 - CARD11 - - BIMP3 - CARMA1 - bcl10-interacting maguk protein 3 - card-maguk protein 1 - - - gene with protein product - - - - ClinVar - CARD11 - - - Ensembl - ENSG00000198286 - - - Genatlas - CARD11 - - - HGNC - 16393 - - - OMIM - 607210 - - - Reactome - Q9BXL7 - - - SwissProt - Q9BXL7 - - - - - 7p22.2 - 1 - - - - - Disease-causing germline mutation(s) (loss of function) in - - - Assessed - - - - - - 619363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619363 - NOCARH syndrome - - Disease - - - Disorder - - - - 31271789[PMID] - - cell division cycle 42 - CDC42 - - GTP binding protein, 25kDa - CDC42Hs - G25K - - - gene with protein product - - - - HGNC - 1736 - - - Genatlas - CDC42 - - - Reactome - P60953 - - - OMIM - 116952 - - - ClinVar - CDC42 - - - SwissProt - P60953 - - - Ensembl - ENSG00000070831 - - - - - 1p36.12 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - 619233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619233 - Hereditary persistence of fetal hemoglobin-intellectual disability syndrome - - Disease - - - Disorder - - - - 27453576[PMID] - - BCL11 transcription factor A - BCL11A - - BCL11A-L - BCL11A-S - BCL11A-XL - CTIP1 - HBFQTL5 - ZNF856 - SMARCM1 - - - gene with protein product - - - - Ensembl - ENSG00000119866 - - - Genatlas - BCL11A - - - HGNC - 13221 - - - OMIM - 606557 - - - SwissProt - Q9H165 - - - ClinVar - BCL11A - - - - - 2p16.1 - 1 - - - - - Disease-causing germline mutation(s) in - - - Assessed - - - - - - + + + + + Creative Commons Attribution 4.0 International + CC-BY-4.0 + https://creativecommons.org/licenses/by/4.0/legalcode + + + + + 166024 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166024 + Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome + + Disease + + + Disorder + + + + 22587682[PMID] + + kinesin family member 7 + KIF7 + + JBTS12 + + + gene with protein product + + + + ClinVar + KIF7 + + + Ensembl + ENSG00000166813 + + + Genatlas + KIF7 + + + HGNC + 30497 + + + OMIM + 611254 + + + Reactome + Q2M1P5 + + + SwissProt + Q2M1P5 + + + + + 15q26.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 166035 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166035 + Brachydactyly-short stature-retinitis pigmentosa syndrome + + Malformation syndrome + + + Disorder + + + + 28285769[PMID] + + CWC27 spliceosome associated cyclophilin + CWC27 + + NY-CO-10 + SDCCAG-10 + + + gene with protein product + + + + HGNC + 10664 + + + SwissProt + Q6UX04 + + + Ensembl + ENSG00000153015 + + + OMIM + 617170 + + + + + 5q12.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93 + Aspartylglucosaminuria + + Disease + + + Disorder + + + + 11309371[PMID] + + aspartylglucosaminidase + AGA + + ASRG + N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase + glycosylasparaginase + + + gene with protein product + + + + Reactome + P20933 + + + Ensembl + ENSG00000038002 + + + Genatlas + AGA + + + HGNC + 318 + + + OMIM + 613228 + + + SwissProt + P20933 + + + ClinVar + AGA + + + + + 4q34.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 585 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585 + Multiple sulfatase deficiency + + Disease + + + Disorder + + + + 17657823[PMID] + + sulfatase modifying factor 1 + SUMF1 + + FGE + UNQ3037 + + + gene with protein product + + + + Ensembl + ENSG00000144455 + + + Genatlas + SUMF1 + + + HGNC + 20376 + + + OMIM + 607939 + + + Reactome + Q8NBK3 + + + SwissProt + Q8NBK3 + + + ClinVar + SUMF1 + + + + + 3p26.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 118 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=118 + Beta-mannosidosis + + Disease + + + Disorder + + + + 18980795[PMID] + + mannosidase beta + MANBA + + beta-mannosidase A + + + gene with protein product + + + + ClinVar + MANBA + + + Reactome + O00462 + + + Genatlas + MANBA + + + HGNC + 6831 + + + OMIM + 609489 + + + SwissProt + O00462 + + + Ensembl + ENSG00000109323 + + + + + 4q24 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 166063 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166063 + Pontocerebellar hypoplasia type 4 + + Malformation syndrome + + + Disorder + + + + + + tRNA splicing endonuclease subunit 54 + TSEN54 + + SEN54 + SEN54L + + + gene with protein product + + + + Ensembl + ENSG00000182173 + + + Genatlas + TSEN54 + + + HGNC + 27561 + + + OMIM + 608755 + + + Reactome + Q7Z6J9 + + + ClinVar + TSEN54 + + + SwissProt + Q7Z6J9 + + + + + 17q25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 166078 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166078 + Von Willebrand disease type 1 + + Clinical subtype + + + Subtype of disorder + + + + 20301765[PMID] + + von Willebrand factor + VWF + + Factor VIII related antigen + + + gene with protein product + + + + ClinVar + VWF + + + Ensembl + ENSG00000110799 + + + Genatlas + VWF + + + HGNC + 12726 + + + OMIM + 613160 + + + Reactome + P04275 + + + SwissProt + P04275 + + + + + 12p13.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 166073 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166073 + Pontocerebellar hypoplasia type 6 + + Malformation syndrome + + + Disorder + + + + + + arginyl-tRNA synthetase 2, mitochondrial + RARS2 + + DALRD2 + MGC14993 + MGC23778 + PRO1992 + arginine tRNA ligase 2, mitochondrial (putative) + dJ382I10.6 + + + gene with protein product + + + + ClinVar + RARS2 + + + Ensembl + ENSG00000146282 + + + Genatlas + RARS2 + + + HGNC + 21406 + + + OMIM + 611524 + + + Reactome + Q5T160 + + + SwissProt + Q5T160 + + + + + 6q15 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 166084 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166084 + Von Willebrand disease type 2A + + Clinical subtype + + + Subtype of disorder + + + + 20301765[PMID] + + von Willebrand factor + VWF + + Factor VIII related antigen + + + gene with protein product + + + + ClinVar + VWF + + + Ensembl + ENSG00000110799 + + + Genatlas + VWF + + + HGNC + 12726 + + + OMIM + 613160 + + + Reactome + P04275 + + + SwissProt + P04275 + + + + + 12p13.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=333 + Farber disease + + Disease + + + Disorder + + + + 24355074[PMID] + + N-acylsphingosine amidohydrolase 1 + ASAH1 + + AC + FLJ21558 + PHP32 + ACDase + acid ceramidase + acylsphingosine deacylase + + + gene with protein product + + + + IUPHAR + 2491 + + + ClinVar + ASAH1 + + + Ensembl + ENSG00000104763 + + + Genatlas + ASAH1 + + + HGNC + 735 + + + OMIM + 613468 + + + Reactome + Q13510 + + + SwissProt + Q13510 + + + + + 8p22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 349 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=349 + Fucosidosis + + Disease + + + Disorder + + + + 10094192[PMID] + + alpha-L-fucosidase 1 + FUCA1 + + tissue fucosidase + a-L-fucosidase 1 + + + gene with protein product + + + + ClinVar + FUCA1 + + + Ensembl + ENSG00000179163 + + + Genatlas + FUCA1 + + + HGNC + 4006 + + + OMIM + 612280 + + + Reactome + P04066 + + + SwissProt + P04066 + + + + + 1p36.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 166090 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166090 + Von Willebrand disease type 2M + + Clinical subtype + + + Subtype of disorder + + + + 20301765[PMID] + + von Willebrand factor + VWF + + Factor VIII related antigen + + + gene with protein product + + + + ClinVar + VWF + + + Ensembl + ENSG00000110799 + + + Genatlas + VWF + + + HGNC + 12726 + + + OMIM + 613160 + + + Reactome + P04275 + + + SwissProt + P04275 + + + + + 12p13.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 166087 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166087 + Von Willebrand disease type 2B + + Clinical subtype + + + Subtype of disorder + + + + 20301765[PMID] + + von Willebrand factor + VWF + + Factor VIII related antigen + + + gene with protein product + + + + ClinVar + VWF + + + Ensembl + ENSG00000110799 + + + Genatlas + VWF + + + HGNC + 12726 + + + OMIM + 613160 + + + Reactome + P04275 + + + SwissProt + P04275 + + + + + 12p13.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 366 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=366 + Glycogen storage disease due to glycogen debranching enzyme deficiency + + Disease + + + Disorder + + + + 10571954[PMID]_17908927[PMID] + + amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase + AGL + + glycogen storage disease type III + glycogen debranching enzyme + GDE + + + gene with protein product + + + + Genatlas + AGL + + + HGNC + 321 + + + OMIM + 610860 + + + Reactome + P35573 + + + SwissProt + P35573 + + + Ensembl + ENSG00000162688 + + + ClinVar + AGL + + + + + 1p21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 166093 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166093 + Von Willebrand disease type 2N + + Clinical subtype + + + Subtype of disorder + + + + 20301765[PMID] + + von Willebrand factor + VWF + + Factor VIII related antigen + + + gene with protein 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Von Willebrand disease type 3 + + Clinical subtype + + + Subtype of disorder + + + + 20301765[PMID] + + von Willebrand factor + VWF + + Factor VIII related antigen + + + gene with protein product + + + + ClinVar + VWF + + + Ensembl + ENSG00000110799 + + + Genatlas + VWF + + + HGNC + 12726 + + + OMIM + 613160 + + + Reactome + P04275 + + + SwissProt + P04275 + + + + + 12p13.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 166100 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166100 + Autosomal dominant otospondylomegaepiphyseal dysplasia + + Malformation syndrome + + + Disorder + + + + 16189708[PMID]_21438135[PMID] + + collagen type II alpha 1 chain + COL2A1 + + STL1 + + + gene with protein product + + + + ClinVar + COL2A1 + + + Ensembl + ENSG00000139219 + + + Genatlas + COL2A1 + + + HGNC + 2200 + + + OMIM + 120140 + + + Reactome + P02458 + + + SwissProt + P02458 + + + + + 12q13.11 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + collagen type XI alpha 2 chain + COL11A2 + + HKE5 + + + gene with protein product + + + + ClinVar + COL11A2 + + + Ensembl + ENSG00000204248 + + + Genatlas + COL11A2 + + + HGNC + 2187 + + + OMIM + 120290 + + + Reactome + P13942 + + + SwissProt + P13942 + + + + + 6p21.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 371 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371 + Glycogen storage disease due to muscle phosphofructokinase deficiency + + Disease + + + Disorder + + + + + + phosphofructokinase, muscle + PFKM + + PFK-1 + PPP1R122 + protein phosphatase 1, regulatory subunit 122 + + + gene with protein product + + + + Ensembl + ENSG00000152556 + + + Genatlas + PFKM + + + HGNC + 8877 + + + OMIM + 610681 + + + Reactome + P08237 + + + SwissProt + P08237 + + + ClinVar + PFKM + + + + + 12q13.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 166105 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166105 + FASTKD2-related infantile mitochondrial encephalomyopathy + + Disease + + + Disorder + + + + 18771761[PMID] + + FAST kinase domains 2 + FASTKD2 + + + + gene with protein product + + + + ClinVar + FASTKD2 + + + Ensembl + ENSG00000118246 + + + Genatlas + FASTKD2 + + + HGNC + 29160 + + + OMIM + 612322 + + + SwissProt + Q9NYY8 + + + + + 2q33.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 369 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369 + Glycogen storage disease due to liver glycogen phosphorylase deficiency + + Disease + + + Disorder + + + + + + glycogen phosphorylase L + PYGL + + Hers disease + glycogen phosphorylase, liver form + glycogen storage disease type VI + GSD6 + + + gene with protein product + + + + ClinVar + PYGL + + + SwissProt + P06737 + + + Ensembl + ENSG00000100504 + + + Genatlas + PYGL + + + HGNC + 9725 + + + OMIM + 613741 + + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166260 + Dentinogenesis imperfecta type 2 + + Clinical subtype + + + Subtype of disorder + + + + + + dentin sialophosphoprotein + DSPP + + DMP3 + + + gene with protein product + + + + ClinVar + DSPP + + + HGNC + 3054 + + + OMIM + 125485 + + + Reactome + Q9NZW4 + + + SwissProt + Q9NZW4 + + + Ensembl + ENSG00000152591 + + + Genatlas + DSPP + + + + + 4q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 166265 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166265 + Dentinogenesis imperfecta type 3 + + Clinical subtype + + + Subtype of disorder + + + + + + dentin sialophosphoprotein + DSPP + + DMP3 + + + gene with protein product + + + + ClinVar + DSPP + + + HGNC + 3054 + + + OMIM + 125485 + + + Reactome + Q9NZW4 + + + SwissProt + Q9NZW4 + + + Ensembl + ENSG00000152591 + + + Genatlas + DSPP + + + + + 4q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + 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22q11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24085347[PMID]_20368421[PMID] + + D-amino acid oxidase + DAO + + DAMOX + DAAO + + + gene with protein product + + + + OMIM + 124050 + + + Reactome + P14920 + + + SwissProt + P14920 + + + Ensembl + ENSG00000110887 + + + Genatlas + DAO + + + HGNC + 2671 + + + ClinVar + DAO + + + + + 12q24.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24085347[PMID] + + ataxin 2 + ATXN2 + + ATX2 + trinucleotide repeat containing 13 + + + gene with protein product + + + + Reactome + Q99700 + + + ClinVar + ATXN2 + + + Ensembl + ENSG00000204842 + + + Genatlas + ATXN2 + + + HGNC + 10555 + + + OMIM + 601517 + + + SwissProt + Q99700 + + + + + 12q24.12 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 20352044[PMID]_23155438[PMID]_16807408[PMID] + + charged multivesicular body protein 2B + CHMP2B + + CHMP2.5 + DKFZP564O123 + VPS2 homolog B (S. cerevisiae) + VPS2B + + + gene 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15273934[PMID]_19838195[PMID]_23966601[PMID]_23950893[PMID]_23943494[PMID]_22654485[PMID] + + protein tyrosine phosphatase non-receptor type 22 + PTPN22 + + Lyp + Lyp1 + Lyp2 + + + gene with protein product + + + + Ensembl + ENSG00000134242 + + + Genatlas + PTPN22 + + + HGNC + 9652 + + + OMIM + 600716 + + + SwissProt + Q9Y2R2 + + + IUPHAR + 3084 + + + Reactome + Q9Y2R2 + + + ClinVar + PTPN22 + + + + + 1p13.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 17804842[PMID]_23943494[PMID]_22654485[PMID] + + signal transducer and activator of transcription 4 + STAT4 + + + + gene with protein product + + + + Ensembl + ENSG00000138378 + + + Genatlas + STAT4 + + + HGNC + 11365 + + + OMIM + 600558 + + + SwissProt + Q14765 + + + Reactome + Q14765 + + + ClinVar + STAT4 + + + + + 2q32.2-q32.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 23943494[PMID]_12115230[PMID]_20385827[PMID] + + Fc fragment of IgG receptor IIb + FCGR2B + + CD32 + CD32B + Fc gamma 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=800 + Schwartz-Jampel syndrome + + Disease + + + Disorder + + + + 19367640[PMID] + + heparan sulfate proteoglycan 2 + HSPG2 + + PRCAN + perlecan + perlecan proteoglycan + endorepellin + + + gene with protein product + + + + ClinVar + HSPG2 + + + Ensembl + ENSG00000142798 + + + Genatlas + HSPG2 + + + HGNC + 5273 + + + OMIM + 142461 + + + Reactome + P98160 + + + SwissProt + P98160 + + + + + 1p36.12 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 628 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=628 + Diastrophic dysplasia + + Disease + + + Disorder + + + + 20301524[PMID] + + solute carrier family 26 member 2 + SLC26A2 + + DTDST + diastrophic dysplasia sulfate transporter + + + gene with protein product + + + + Ensembl + ENSG00000155850 + + + Genatlas + SLC26A2 + + + HGNC + 10994 + + + OMIM + 606718 + + + Reactome + P50443 + + + SwissProt + P50443 + + + ClinVar 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1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 258 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=258 + Laminin subunit alpha 2-related congenital muscular dystrophy + + Malformation syndrome + + + Disorder + + + + 24223650[PMID]_22675738[PMID] + + laminin subunit alpha 2 + LAMA2 + + congenital muscular dystrophy + merosin + + + gene with protein product + + + + ClinVar + LAMA2 + + + OMIM + 156225 + + + Reactome + P24043 + + + SwissProt + P24043 + + + Ensembl + ENSG00000196569 + + + Genatlas + LAMA2 + + + HGNC + 6482 + + + + + 6q22.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1646 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1646 + Chromosome Y microdeletion syndrome + + Malformation syndrome + + + Disorder + + + + 19246359[PMID] + + azoospermia factor 1 + AZF1 + + AZFa + + + Disorder-associated locus + + + + HGNC + 908 + + + + + Yq11 + 1 + + + + + Role in the phenotype of + + + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171445 + Muscle filaminopathy + + Disease + + + Disorder + + + + 15929027[PMID] + + filamin C + FLNC + + ABP-280 + ABPL + actin binding protein 280 + gamma filamin + + + gene with protein product + + + + Ensembl + ENSG00000128591 + + + Genatlas + FLNC + + + HGNC + 3756 + + + OMIM + 102565 + + + Reactome + Q14315 + + + SwissProt + Q14315 + + + ClinVar + FLNC + + + + + 7q32.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 171607 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171607 + X-linked spastic paraplegia type 34 + + Disease + + + Disorder + + + + + + spastic paraplegia 34 (autosomal dominant) + SPG34 + + + + Disorder-associated locus + + + + HGNC + 32944 + + + + + reserved + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2771 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2771 + Bruck syndrome + + Malformation syndrome + + + 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Disease-causing germline mutation(s) in + + + Assessed + + + + 29379197[PMID] + + bromodomain containing 4 + BRD4 + + CAP + HUNK1 + HUNKI + MCAP + chromosome-associated protein + mitotic chromosome-associated protein + FSHRG4 + female sterile homeotic related gene 4 + + + gene with protein product + + + + Ensembl + ENSG00000141867 + + + Genatlas + BRD4 + + + HGNC + 13575 + + + IUPHAR + 1945 + + + OMIM + 608749 + + + SwissProt + O60885 + + + Reactome + O60885 + + + ClinVar + BRD4 + + + + + 19p13.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 930 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=930 + Idiopathic achalasia + + Disease + + + Disorder + + + + 27976805[PMID] + + cytokine receptor like factor 1 + CRLF1 + + CISS + CISS1 + CLF + CLF-1 + cold-induced sweating syndrome + + + gene with protein product + + + + ClinVar + CRLF1 + + + Ensembl + ENSG00000006016 + + + Genatlas + CRLF1 + + + HGNC + 2364 + + + OMIM + 604237 + + + Reactome 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169082 + Combined immunodeficiency due to CD3gamma deficiency + + Disease + + + Disorder + + + + + + CD3 gamma subunit of T-cell receptor complex + CD3G + + CD3GAMMA + T-cell surface glycoprotein CD3 gamma chain + CD3-GAMMA + + + gene with protein product + + + + Ensembl + ENSG00000160654 + + + Genatlas + CD3G + + + HGNC + 1675 + + + OMIM + 186740 + + + Reactome + P09693 + + + SwissProt + P09693 + + + ClinVar + CD3G + + + + + 11q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 169085 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169085 + Susceptibility to respiratory infections associated with CD8alpha chain mutation + + Disease + + + Disorder + + + + 11435463[PMID] + + CD8 subunit alpha + CD8A + + p32 + CD8alpha + + + gene with protein product + + + + ClinVar + CD8A + + + Ensembl + ENSG00000153563 + + + Genatlas + CD8A + + + HGNC + 1706 + + + OMIM + 186910 + + + Reactome 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168940 + Chronic eosinophilic leukemia + + Disease + + + Disorder + + + + 24764730[PMID]_22523564[PMID]_17988989[PMID]_16502585[PMID] + + factor interacting with PAPOLA and CPSF1 + FIP1L1 + + DKFZp586K0717 + FIP1 + hFip1 + + + gene with protein product + + + + ClinVar + FIP1L1 + + + Ensembl + ENSG00000145216 + + + Genatlas + FIP1L1 + + + HGNC + 19124 + + + OMIM + 607686 + + + Reactome + Q6UN15 + + + SwissProt + Q6UN15 + + + + + 4q12 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 24764730[PMID]_22523564[PMID]_17988989[PMID]_16502585[PMID] + + platelet derived growth factor receptor alpha + PDGFRA + + CD140a + GAS9 + PDGFR2 + + + gene with protein product + + + + Ensembl + ENSG00000134853 + + + Genatlas + PDGFRA + + + HGNC + 8803 + + + IUPHAR + 1803 + + + OMIM + 173490 + + + Reactome + P16234 + + + SwissProt + P16234 + + + ClinVar + PDGFRA + + + + + 4q12 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + 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P03891 + + + + + mitochondria + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 14705112[PMID] + + mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 + MT-ND3 + + NAD3 + NADH-ubiquinone oxidoreductase chain 3 + ND3 + complex I ND3 subunit + + + gene with protein product + + + + Ensembl + ENSG00000198840 + + + Genatlas + MT-ND3 + + + HGNC + 7458 + + + OMIM + 516002 + + + Reactome + P03897 + + + SwissProt + P03897 + + + ClinVar + MT-ND3 + + + + + mitochondria + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 16200211[PMID] + + NADH:ubiquinone oxidoreductase complex assembly factor 2 + NDUFAF2 + + B17.2L + MMTN + Myc-induced mitochondrial protein + mimitin + + + gene with protein product + + + + ClinVar + NDUFAF2 + + + Genatlas + NDUFAF2 + + + HGNC + 28086 + + + OMIM + 609653 + + + Reactome + Q8N183 + + + SwissProt + Q8N183 + + + Ensembl + ENSG00000164182 + + + + + 5q12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20382551[PMID]_22644603[PMID] + + NADH:ubiquinone oxidoreductase core subunit S1 + NDUFS1 + + CI-75k + NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial + complex I 75kDa subunit + + + gene with protein product + + + + ClinVar + NDUFS1 + + + Ensembl + ENSG00000023228 + + + Genatlas + NDUFS1 + + + HGNC + 7707 + + + OMIM + 157655 + + + Reactome + P28331 + + + SwissProt + P28331 + + + + + 2q33.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 15576045[PMID]_22644603[PMID] + + NADH:ubiquinone oxidoreductase core subunit S2 + NDUFS2 + + CI-49 + NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial + complex I 49kDa subunit + + + gene with protein product + + + + ClinVar + NDUFS2 + + + Ensembl + ENSG00000158864 + + + Genatlas + NDUFS2 + + + HGNC + 7708 + + + OMIM + 602985 + + + Reactome + O75306 + + + SwissProt + O75306 + + + + + 1q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22499348[PMID] + + NADH:ubiquinone oxidoreductase core subunit S3 + NDUFS3 + + CI-30 + NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial + complex I 30kDa subunit + + + gene with protein product + + + + ClinVar + NDUFS3 + + + Reactome + O75489 + + + SwissProt + O75489 + + + Ensembl + ENSG00000213619 + + + Genatlas + NDUFS3 + + + HGNC + 7710 + + + OMIM + 603846 + + + + + 11p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 9463323[PMID]_22644603[PMID] + + NADH:ubiquinone oxidoreductase subunit S4 + NDUFS4 + + AQDQ + CI-18 + complex I 18kDa subunit + + + gene with protein product + + + + ClinVar + NDUFS4 + + + Ensembl + ENSG00000164258 + + + Genatlas + NDUFS4 + + + HGNC + 7711 + + + OMIM + 602694 + + + Reactome + O43181 + + + SwissProt + O43181 + + + + + 5q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 15372108[PMID]_19259137[PMID]_22644603[PMID] + + NADH:ubiquinone oxidoreductase subunit S6 + NDUFS6 + + CI-13kA + NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial + complex I 13kDa subunit A + + + gene with protein product + + + + ClinVar + NDUFS6 + + + Ensembl + ENSG00000145494 + + + Genatlas + NDUFS6 + + + HGNC + 7713 + + + OMIM + 603848 + + + Reactome + O75380 + + + SwissProt + O75380 + + + + + 5p15.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22644603[PMID] + + NADH:ubiquinone oxidoreductase core subunit S7 + NDUFS7 + + CI-20 + FLJ45860 + FLJ46880 + NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial + PSST + complex I 20kDa subunit + + + gene with protein product + + + + ClinVar + NDUFS7 + + + Ensembl + ENSG00000115286 + + + Genatlas + NDUFS7 + + + HGNC + 7714 + + + OMIM + 601825 + + + Reactome + O75251 + + + SwissProt + O75251 + + + + + 19p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22499348[PMID]_22644603[PMID] + + NADH:ubiquinone oxidoreductase core subunit S8 + NDUFS8 + + CI-23k + NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial + TYKY + complex I 23kDa subunit + + + gene with protein product + + + + Ensembl + ENSG00000110717 + + + Genatlas + NDUFS8 + + + HGNC + 7715 + + + OMIM + 602141 + + + Reactome + O00217 + + + SwissProt + O00217 + + + ClinVar + NDUFS8 + + + + + 11q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22644603[PMID] + + NADH:ubiquinone oxidoreductase core subunit V1 + NDUFV1 + + CI-51K + NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial + complex I 51kDa subunit + + + gene with protein product + + + + Ensembl + ENSG00000167792 + + + Genatlas + NDUFV1 + + + HGNC + 7716 + + + OMIM + 161015 + + + Reactome + P49821 + + + SwissProt + P49821 + + + ClinVar + NDUFV1 + + + + + 11q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 12754703[PMID]_22644603[PMID]_26008862[PMID] + + NADH:ubiquinone oxidoreductase core subunit V2 + NDUFV2 + + CI-24k + NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial + complex I 24kDa subunit + + + gene with protein product + + + + Ensembl + ENSG00000178127 + + + Genatlas + NDUFV2 + + + HGNC + 7717 + + + OMIM + 600532 + + + Reactome + P19404 + + + SwissProt + P19404 + + + ClinVar + NDUFV2 + + + + + 18p11.22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 17262856[PMID]_19185523[PMID]_21596602[PMID]_22644603[PMID] + + NADH:ubiquinone oxidoreductase subunit A1 + NDUFA1 + + NADH:ubiquinone oxidoreductase (complex 1) + CI-MWFE + MWFE + complex I MWFE subunit + type I dehydrogenase + + + gene with protein product + + + + ClinVar + NDUFA1 + + + SwissProt + O15239 + + + Ensembl + ENSG00000125356 + + + Genatlas + NDUFA1 + + + HGNC + 7683 + + + OMIM + 300078 + + + Reactome + O15239 + + + + + Xq24 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 18179882[PMID]_22644603[PMID] + + NADH:ubiquinone oxidoreductase complex assembly factor 4 + NDUFAF4 + + HRPAP20 + HSPC125 + My013 + bA22L21.1 + + + gene with protein product + + + + ClinVar + NDUFAF4 + + + OMIM + 611776 + + + Reactome + Q9P032 + + + SwissProt + Q9P032 + + + Ensembl + ENSG00000123545 + + + Genatlas + NDUFAF4 + + + HGNC + 21034 + + + + + 6q16.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 18940309[PMID]_22644603[PMID] + + NADH:ubiquinone oxidoreductase complex assembly factor 5 + NDUFAF5 + + dJ842G6.1 + + + gene with protein product + + + + Reactome + Q5TEU4 + + + SwissProt + Q5TEU4 + + + Ensembl + ENSG00000101247 + + + Genatlas + C20ORF7 + + + HGNC + 15899 + + + OMIM + 612360 + + + ClinVar + C20ORF7 + + + + + 20p12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 18306244[PMID]_22644603[PMID] + + NADH:ubiquinone oxidoreductase subunit A11 + NDUFA11 + + B14.7 + complex I B14.7 subunit + + + gene with protein product + + + + ClinVar + NDUFA11 + + + Ensembl + ENSG00000174886 + + + Genatlas + NDUFA11 + + + HGNC + 20371 + + + OMIM + 612638 + + + Reactome + Q86Y39 + + + SwissProt + Q86Y39 + + + + + 19p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 19463981[PMID]_22644603[PMID] + + NADH:ubiquinone oxidoreductase complex assembly factor 3 + NDUFAF3 + + 2P1 + DKFZP564J0123 + E3-3 + MGC10527 + + + gene with protein product + + + + ClinVar + NDUFAF3 + + + Ensembl + ENSG00000178057 + + + Genatlas + NDUFAF3 + + + HGNC + 29918 + + + OMIM + 612911 + + + Reactome + Q9BU61 + + + SwissProt + Q9BU61 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20818383[PMID]_22644603[PMID]_23553477[PMID] + + NUBP iron-sulfur cluster assembly factor, mitochondrial + NUBPL + + FLJ12660 + IND1 + huInd1 + iron-sulfur protein required for NADH dehydrogenase + + + gene with protein product + + + + Ensembl + ENSG00000151413 + + + Genatlas + NUBPL + + + HGNC + 20278 + + + OMIM + 613621 + + + Reactome + Q8TB37 + + + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169154 + T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency + + Disease + + + Disorder + + + + + + interleukin 7 receptor + IL7R + + CD127 + soluble interleukin-7 receptor + lnc-IL7R + IL7RA + CDw127 + IL-7Ralpha + IL7Ralpha + Interleukin-7 receptor subunit alpha + sIL-7R + + + gene with protein product + + + + ClinVar + IL7R + + + IUPHAR + 1698 + + + Ensembl + ENSG00000168685 + + + Genatlas + IL7R + + + HGNC + 6024 + + + OMIM + 146661 + + + Reactome + P16871 + + + SwissProt + P16871 + + + + + 5p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 169150 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169150 + Immunodeficiency due to a late component of complement deficiency + + Disease + + + Disorder + + + + + + complement C5 + C5 + + C5a + C5a anaphylatoxin + C5b + CPAMD4 + prepro-C5 + + + gene with protein product + + + + ClinVar + C5 + + + Ensembl + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596 + X-linked centronuclear myopathy + + Disease + + + Disorder + + + + 20301605[PMID] + + myotubularin 1 + MTM1 + + + + gene with protein product + + + + ClinVar + MTM1 + + + Ensembl + ENSG00000171100 + + + Genatlas + MTM1 + + + HGNC + 7448 + + + OMIM + 300415 + + + Reactome + Q13496 + + + SwissProt + Q13496 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 610 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610 + Bethlem muscular dystrophy + + Disease + + + Disorder + + + + 20301676[PMID] + + collagen type VI alpha 1 chain + COL6A1 + + + + gene with protein product + + + + ClinVar + COL6A1 + + + SwissProt + P12109 + + + Ensembl + ENSG00000142156 + + + Genatlas + COL6A1 + + + HGNC + 2211 + + + OMIM + 120220 + + + Reactome + P12109 + + + + + 21q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301676[PMID] + + 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COL12A1 + + + + + 6q13-q14.1 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 169186 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169186 + Autosomal recessive centronuclear myopathy + + Disease + + + Disorder + + + + 23975875[PMID] + + titin + TTN + + CMH9 + CMPD4 + FLJ32040 + LGMD2J + MYLK5 + TMD + + + gene with protein product + + + + Reactome + Q8WZ42 + + + SwissProt + Q8WZ42 + + + ClinVar + TTN + + + Ensembl + ENSG00000155657 + + + Genatlas + TTN + + + HGNC + 12403 + + + IUPHAR + 2265 + + + OMIM + 188840 + + + + + 2q31.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 25087613[PMID] + + striated muscle enriched protein kinase + SPEG + + striated muscle preferentially expressed protein kinase + BPEG + KIAA1297 + MGC12676 + SPEGalpha + SPEGbeta + MYLK6 + + + gene with protein product + + + + Reactome + Q15772 + + + Ensembl + ENSG00000072195 + + + Genatlas + SPEG + + + HGNC + 16901 + + + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168588 + Hyperandrogenism due to cortisone reductase deficiency + + Malformation syndrome + + + Disorder + + + + 18628520[PMID] + + hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase + H6PD + + 6-phosphogluconolactonase + GDH/6PGL endoplasmic bifunctional protein + H6PDH + + + gene with protein product + + + + Ensembl + ENSG00000049239 + + + Genatlas + H6PD + + + HGNC + 4795 + + + OMIM + 138090 + + + SwissProt + O95479 + + + ClinVar + H6PD + + + + + 1p36.22 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 21325058[PMID] + + hydroxysteroid 11-beta dehydrogenase 1 + HSD11B1 + + SDR26C1 + short chain dehydrogenase/reductase family 26C, member 1 + + + gene with protein product + + + + Ensembl + ENSG00000117594 + + + Genatlas + HSD11B1 + + + HGNC + 5208 + + + IUPHAR + 2763 + + + OMIM + 600713 + + + Reactome + P28845 + + + SwissProt + P28845 + + + ClinVar + HSD11B1 + + + + + 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Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1556 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1556 + Cutis marmorata telangiectatica congenita + + Malformation syndrome + + + Disorder + + + + 35351629[PMID] + + G protein subunit alpha 11 + GNA11 + + FBH + FBH2 + FHH2 + + + gene with protein product + + + + Reactome + P29992 + + + SwissProt + P29992 + + + Ensembl + ENSG00000088256 + + + Genatlas + GNA11 + + + HGNC + 4379 + + + OMIM + 139313 + + + ClinVar + GNA11 + + + + + 19p13.3 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 25957586[PMID] + + ARF like GTPase 6 interacting protein 6 + ARL6IP6 + + MGC33864 + + + gene with protein product + + + + ClinVar + ARL6IP6 + + + HGNC + 24048 + + + Ensembl + ENSG00000177917 + + + SwissProt + Q8N6S5 + + + OMIM + 616495 + + + Reactome + Q8N6S5 + + + Genatlas + ARL6IP6 + + + + + 2q23.3 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 1496 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1496 + Corpus callosum agenesis-neuronopathy syndrome + + Disease + + + Disorder + + + + 20301546[PMID] + + solute carrier family 12 member 6 + SLC12A6 + + KCC3A + KCC3B + K-Cl cotransporter 3 + + + gene with protein product + + + + ClinVar + SLC12A6 + + + Ensembl + ENSG00000140199 + + + Genatlas + SLC12A6 + + + HGNC + 10914 + + + OMIM + 604878 + + + Reactome + Q9UHW9 + + + SwissProt + Q9UHW9 + + + IUPHAR + 973 + + + + + 15q14 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 417 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=417 + Neonatal severe primary hyperparathyroidism + + Disease + + + Disorder + + + + 29861107[PMID] + + transient receptor potential cation channel subfamily V member 6 + TRPV6 + + CaT1 + + + gene with protein product + + + + HGNC + 14006 + + + Ensembl + ENSG00000165125 + + + SwissProt + Q9H1D0 + + + OMIM + 606680 + + + IUPHAR + 512 + + + + + 7q34 + 1 + + + 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Reactome + P17302 + + + SwissProt + P17302 + + + IUPHAR + 728 + + + + + 6q22.31 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 12798584[PMID]_14607454[PMID]_20456451[PMID] + + NK2 homeobox 5 + NKX2-5 + + tinman paralog (Drosophila) + CSX1 + NKX2.5 + NKX4-1 + tinman (Drosophila) homolog + + + gene with protein product + + + + Reactome + P52952 + + + SwissProt + P52952 + + + Ensembl + ENSG00000183072 + + + Genatlas + NKX2-5 + + + HGNC + 2488 + + + OMIM + 600584 + + + ClinVar + NKX2-5 + + + + + 5q35.1 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 2140 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2140 + Congenital diaphragmatic hernia + + Morphological anomaly + + + Disorder + + + + 34547244[PMID] + + lon peptidase 1, mitochondrial + LONP1 + + LonHS + PIM1 + hLON + Mitochondrial ATP-dependent protease Lon + + + gene with protein product + + + + IUPHAR + 3180 + + + ClinVar + LONP1 + + + Genatlas + LONP1 + + + HGNC + 9479 + + + 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Disorder + + + + 31520464[PMID] + + collectrin, amino acid transport regulator + CLTRN + + NX17 + collectrin + + + gene with protein product + + + + HGNC + 29437 + + + Ensembl + ENSG00000147003 + + + OMIM + 300631 + + + SwissProt + Q9HBJ8 + + + + + Xp22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 15286787[PMID]_15286788[PMID] + + solute carrier family 6 member 19 + SLC6A19 + + Hartnup disease + broad neutral amino acid transporter 1 + B0AT1 + Sodium-dependent neutral amino acid transporter B(0)AT1 + + + gene with protein product + + + + Ensembl + ENSG00000174358 + + + Genatlas + SLC6A19 + + + HGNC + 27960 + + + OMIM + 608893 + + + Reactome + Q695T7 + + + SwissProt + Q695T7 + + + IUPHAR + 939 + + + ClinVar + SLC6A19 + + + + + 5p15.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2118 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2118 + Hawkinsinuria + + Disease + + + Disorder + + + + 11073718[PMID]_17560158[PMID] + + 4-hydroxyphenylpyruvate dioxygenase + HPD + + 4-HPPD + 4HPPD + GLOD3 + glyoxalase domain containing 3 + HPPD + + + gene with protein product + + + + Reactome + P32754 + + + SwissProt + P32754 + + + ClinVar + HPD + + + Ensembl + ENSG00000158104 + + + Genatlas + HPD + + + HGNC + 5147 + + + IUPHAR + 2621 + + + OMIM + 609695 + + + + + 12q24.31 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 351 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=351 + Galactosialidosis + + Disease + + + Disorder + + + + + + cathepsin A + CTSA + + carboxypeptidase C + carboxypeptidase Y-like kininase + carboxypeptidase-L + deamidase + lysosomal carboxypeptidase A + lysosomal protective protein + urinary kininase + + + gene with protein product + + + + ClinVar + CTSA + + + Ensembl + ENSG00000064601 + + + Genatlas + CTSA + + + HGNC + 9251 + + + IUPHAR + 1581 + + + OMIM + 613111 + + + Reactome + P10619 + + + SwissProt + P10619 + + + + + 20q13.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2020 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2020 + Congenital fiber-type disproportion myopathy + + Disease + + + Disorder + + + + 27816943[PMID] + + mitogen-activated protein kinase kinase kinase 20 + MAP3K20 + + mixed lineage kinase 7 + MLK7 + MLTK + MLTKalpha + MLTKbeta + MRK + ZAK + ZAK1 homolog, leucine zipper and sterile-alpha motif kinase (Dictyostelium) + + + gene with protein product + + + + HGNC + 17797 + + + Ensembl + ENSG00000091436 + + + OMIM + 609479 + + + IUPHAR + 2289 + + + SwissProt + Q9NYL2 + + + Reactome + Q9NYL2 + + + + + 2q31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301436[PMID] + + actin alpha 1, skeletal muscle + ACTA1 + + NEM3 + nemaline myopathy type 3 + + + gene with protein product + + + + ClinVar + ACTA1 + + + OMIM + 102610 + + + Reactome + P68133 + + + SwissProt + P68133 + + + Ensembl + ENSG00000143632 + + 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ENSG00000143549 + + + Genatlas + TPM3 + + + HGNC + 12012 + + + ClinVar + TPM3 + + + + + 1q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23365102[PMID] + + myosin light chain 2 + MYL2 + + CMH10 + cardiac ventricular myosin light chain 2 + + + gene with protein product + + + + ClinVar + MYL2 + + + Ensembl + ENSG00000111245 + + + Genatlas + MYL2 + + + HGNC + 7583 + + + OMIM + 160781 + + + Reactome + P10916 + + + SwissProt + P10916 + + + + + 12q24.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23800289[PMID] + + integrin subunit alpha 7 + ITGA7 + + + + gene with protein product + + + + Ensembl + ENSG00000135424 + + + Genatlas + ITGA7 + + + HGNC + 6143 + + + OMIM + 600536 + + + Reactome + Q13683 + + + SwissProt + Q13683 + + + ClinVar + ITGA7 + + + IUPHAR + 2446 + + + + + 12q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23933735[PMID] + + 3-hydroxyacyl-CoA dehydratase 1 + HACD1 + + CAP + Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1 + cementum attachment protein + + + gene with protein product + + + + ClinVar + PTPLA + + + Ensembl + ENSG00000165996 + + + Genatlas + PTPLA + + + HGNC + 9639 + + + OMIM + 610467 + + + Reactome + B0YJ81 + + + SwissProt + B0YJ81 + + + + + 10p12.33 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 2053 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2053 + Freeman-Sheldon syndrome + + Malformation syndrome + + + Disorder + + + + 25683120[PMID] + + sodium leak channel, non-selective + NALCN + + CanIon + bA430M15.1 + + + gene with protein product + + + + ClinVar + NALCN + + + Ensembl + ENSG00000102452 + + + Genatlas + NALCN + + + HGNC + 19082 + + + OMIM + 611549 + + + Reactome + Q8IZF0 + + + SwissProt + Q8IZF0 + + + IUPHAR + 750 + + + + + 13q32.3-q33.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 16642020[PMID] + + myosin heavy chain 3 + MYH3 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germline mutation(s) in + + + Assessed + + + + + + 1880 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1880 + Ebstein malformation of the tricuspid valve + + Morphological anomaly + + + Disorder + + + + 23956225[PMID] + + myosin heavy chain 7 + MYH7 + + CMD1S + + + gene with protein product + + + + ClinVar + MYH7 + + + OMIM + 160760 + + + Reactome + P12883 + + + SwissProt + P12883 + + + Ensembl + ENSG00000092054 + + + Genatlas + MYH7 + + + HGNC + 7577 + + + + + 14q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1885 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1885 + Isolated ectopia lentis + + Malformation syndrome + + + Disorder + + + + + + fibrillin 1 + FBN1 + + MASS + Marfan syndrome + OCTD + SGS + asprosin + + + gene with protein product + + + + ClinVar + FBN1 + + + Ensembl + ENSG00000166147 + + + Genatlas + FBN1 + + + HGNC + 3603 + + + OMIM + 134797 + + + Reactome + P35555 + + + SwissProt + P35555 + + + + + 15q21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + ADAMTS like 4 + ADAMTSL4 + + DKFZP434K1772 + + + gene with protein product + + + + Ensembl + ENSG00000143382 + + + Genatlas + ADAMTSL4 + + + HGNC + 19706 + + + OMIM + 610113 + + + Reactome + Q6UY14 + + + SwissProt + Q6UY14 + + + ClinVar + ADAMTSL4 + + + + + 1q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 635 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=635 + Neuroblastoma + + Disease + + + Disorder + + + + + + MYCN proto-oncogene, bHLH transcription factor + MYCN + + MYCNOT + N-myc + bHLHe37 + + + gene with protein product + + + + Reactome + P04198 + + + ClinVar + MYCN + + + OMIM + 164840 + + + SwissProt + P04198 + + + Ensembl + ENSG00000134323 + + + Genatlas + MYCN + + + HGNC + 7559 + + + + + 2p24.3 + 1 + + + + + Biomarker tested in + + + Assessed + + + + 26560027[PMID] + + LIM domain only 1 + LMO1 + + RHOM1 + TTG1 + + + gene with protein 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ankyrin repeat containing E3 ubiquitin protein ligase 1 + HACE1 + + KIAA1320 + + + gene with protein product + + + + Reactome + Q8IYU2 + + + HGNC + 21033 + + + OMIM + 610876 + + + SwissProt + Q8IYU2 + + + Ensembl + ENSG00000085382 + + + Genatlas + HACE1 + + + ClinVar + HACE1 + + + + + 6q16.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 22911191[PMID] + + lin-28 RNA binding posttranscriptional regulator B + LIN28B + + CSDD2 + FLJ16517 + + + gene with protein product + + + + Ensembl + ENSG00000187772 + + + Genatlas + LIN28B + + + HGNC + 32207 + + + OMIM + 611044 + + + SwissProt + Q6ZN17 + + + Reactome + Q6ZN17 + + + ClinVar + LIN28B + + + + + 6q16.3-q21 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 2612 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2612 + Linear nevus sebaceus syndrome + + Disease + + + Disorder + + + + 22683711[PMID] + + HRas proto-oncogene, GTPase + HRAS + + + + gene with protein product + + + + HGNC + 5173 + + + OMIM + 190020 + + + Reactome + P01112 + + + SwissProt + P01112 + + + Ensembl + ENSG00000174775 + + + Genatlas + HRAS + + + ClinVar + HRAS + + + IUPHAR + 2822 + + + + + 11p15.5 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 22683711[PMID] + + KRAS proto-oncogene, GTPase + KRAS + + KRAS1 + K-Ras4B + + + gene with protein product + + + + IUPHAR + 2824 + + + ClinVar + KRAS + + + Ensembl + ENSG00000133703 + + + Genatlas + KRAS + + + HGNC + 6407 + + + OMIM + 190070 + + + Reactome + P01116 + + + SwissProt + P01116 + + + + + 12p12.1 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 25914220[PMID] + + NRAS proto-oncogene, GTPase + NRAS + + N-ras + + + gene with protein product + + + + HGNC + 7989 + + + OMIM + 164790 + + + Reactome + P01111 + + + SwissProt + P01111 + + + Ensembl + ENSG00000213281 + + + Genatlas + NRAS + + + ClinVar + NRAS + + + IUPHAR + 2823 + + + + + 1p13.2 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 2635 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2635 + Metatropic dysplasia + + Disease + + + Disorder + + + + 22791502[PMID] + + transient receptor potential cation channel subfamily V member 4 + TRPV4 + + CMT2C + OTRPC4 + TRP12 + VR-OAC + VRL-2 + VROAC + osmosensitive transient receptor potential channel 4 + + + gene with protein product + + + + Ensembl + ENSG00000111199 + + + Genatlas + TRPV4 + + + HGNC + 18083 + + + IUPHAR + 510 + + + OMIM + 605427 + + + Reactome + Q9HBA0 + + + SwissProt + Q9HBA0 + + + ClinVar + TRPV4 + + + + + 12q24.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 606 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=606 + Proximal myotonic myopathy + + Disease + + + Disorder + + + + 20301639[PMID] + + CCHC-type zinc finger nucleic acid binding protein + CNBP + + CNBP1 + RNF163 + ZCCHC22 + + + gene with protein product + + + + ClinVar + CNBP + + + Reactome + P62633 + + + Ensembl + ENSG00000169714 + + + Genatlas + CNBP + + + HGNC + 13164 + + + OMIM + 116955 + + + SwissProt + P62633 + + + + + 3q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 705 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=705 + Pendred syndrome + + Malformation syndrome + + + Disorder + + + + 20301640[PMID] + + solute carrier family 26 member 4 + SLC26A4 + + PDS + pendrin + Pendred syndrome + + + gene with protein product + + + + IUPHAR + 1100 + + + Ensembl + ENSG00000091137 + + + Genatlas + SLC26A4 + + + HGNC + 8818 + + + OMIM + 605646 + + + Reactome + O43511 + + + SwissProt + O43511 + + + ClinVar + SLC26A4 + + + + + 7q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301640[PMID] + + potassium inwardly rectifying channel subfamily J member 10 + KCNJ10 + + Kir1.2 + Kir4.1 + + + gene with protein product + + + + ClinVar + KCNJ10 + + + Ensembl + ENSG00000177807 + + + Genatlas + KCNJ10 + + + HGNC + 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O00300 + + + + + 8q24.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 25063546[PMID] + + TNF receptor superfamily member 11a + TNFRSF11A + + CD265 + FEO + RANK + osteoclast differentiation factor receptor + ODFR + receptor activator of nuclear factor kappa B + TRANCE-R + TRANCE receptor + familial expansile osteolysis + + + gene with protein product + + + + IUPHAR + 1881 + + + Ensembl + ENSG00000141655 + + + Genatlas + TNFRSF11A + + + HGNC + 11908 + + + OMIM + 603499 + + + Reactome + Q9Y6Q6 + + + SwissProt + Q9Y6Q6 + + + ClinVar + TNFRSF11A + + + + + 18q21.33 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 2785 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2785 + Osteopetrosis with renal tubular acidosis + + Disease + + + Disorder + + + + + + carbonic anhydrase 2 + CA2 + + CA-II + CAII + Car2 + + + gene with protein product + + + + Ensembl + ENSG00000104267 + + + Genatlas + CA2 + + + HGNC + 1373 + + + OMIM + 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Q96MS0 + + + SwissProt + Q96MS0 + + + + + 11q24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2746 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2746 + Opsismodysplasia + + Disease + + + Disorder + + + + 23273567[PMID]_23263569[PMID] + + inositol polyphosphate phosphatase like 1 + INPPL1 + + 51C protein + SH2 domain-containing inositol 5'-phosphatase 2 + SHIP2 + phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2 + + + gene with protein product + + + + Ensembl + ENSG00000165458 + + + Genatlas + INPPL1 + + + HGNC + 6080 + + + IUPHAR + 1459 + + + ClinVar + INPPL1 + + + OMIM + 600829 + + + Reactome + O15357 + + + SwissProt + O15357 + + + + + 11q13.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2971 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2971 + Peroxisomal acyl-CoA oxidase deficiency + + Disease + + + Disorder + + + + 22508517[PMID] + + acyl-CoA oxidase 1 + ACOX1 + + PALMCOX + palmitoyl-CoA oxidase + + + gene with protein product + + + + ClinVar + ACOX1 + + + Ensembl + ENSG00000161533 + + + Genatlas + ACOX1 + + + HGNC + 119 + + + OMIM + 609751 + + + Reactome + Q15067 + + + SwissProt + Q15067 + + + + + 17q25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2970 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2970 + Prune belly syndrome + + Malformation syndrome + + + Disorder + + + + 22077972[PMID] + + cholinergic receptor muscarinic 3 + CHRM3 + + acetylcholine receptor, muscarinic 3 + Acetylcholine receptor, muscarinic 3 + m3AChR + + + gene with protein product + + + + Ensembl + ENSG00000133019 + + + Genatlas + CHRM3 + + + HGNC + 1952 + + + IUPHAR + 15 + + + OMIM + 118494 + + + Reactome + P20309 + + + SwissProt + P20309 + + + ClinVar + CHRM3 + + + + + 1q43 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 744 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744 + Proteus syndrome + + Malformation syndrome + + + Disorder + + + + 21793738[PMID] + + AKT serine/threonine kinase 1 + AKT1 + + RAC-alpha + AKT + PKB + PRKBA + RAC + protein kinase B + + + gene with protein product + + + + Ensembl + ENSG00000142208 + + + Genatlas + AKT1 + + + HGNC + 391 + + + IUPHAR + 1479 + + + OMIM + 164730 + + + Reactome + P31749 + + + SwissProt + P31749 + + + ClinVar + AKT1 + + + + + 14q32.33 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 2903 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2903 + Familial spontaneous pneumothorax + + Disease + + + Disorder + + + + 15657874[PMID]_18505456[PMID] + + folliculin + FLCN + + BHD + MGC17998 + MGC23445 + DENND8B + + + gene with protein product + + + + ClinVar + FLCN + + + Ensembl + ENSG00000154803 + + + Genatlas + FLCN + + + HGNC + 27310 + + + OMIM + 607273 + + + SwissProt + Q8NFG4 + + + + + 17p11.2 + 1 + + + + 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ClinVar + SOX9 + + + + + 17q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3071 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071 + Costello syndrome + + Malformation syndrome + + + Disorder + + + + 20301680[PMID] + + HRas proto-oncogene, GTPase + HRAS + + + + gene with protein product + + + + HGNC + 5173 + + + OMIM + 190020 + + + Reactome + P01112 + + + SwissProt + P01112 + + + Ensembl + ENSG00000174775 + + + Genatlas + HRAS + + + ClinVar + HRAS + + + IUPHAR + 2822 + + + + + 11p15.5 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 763 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=763 + Pycnodysostosis + + Disease + + + Disorder + + + + 21569238[PMID] + + cathepsin K + CTSK + + PKND + + + gene with protein product + + + + ClinVar + CTSK + + + OMIM + 601105 + + + Reactome + P43235 + + + SwissProt + P43235 + + + Ensembl + ENSG00000143387 + + + Genatlas + CTSK + + + HGNC + 2536 + + + IUPHAR + 2350 + + + + + 1q21.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 2301 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2301 + Congenital short bowel syndrome + + Morphological anomaly + + + Disorder + + + + 23037936[PMID] + + filamin A + FLNA + + ABP-280 + actin binding protein 280 + alpha filamin + + + gene with protein product + + + + Ensembl + ENSG00000196924 + + + Genatlas + FLNA + + + HGNC + 3754 + + + OMIM + 300017 + + + Reactome + P21333 + + + SwissProt + P21333 + + + ClinVar + FLNA + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22155368[PMID] + + CXADR like cell adhesion molecule + CLMP + + ACAM + ASAM + Adipocyte adhesion molecule + Adipocyte-specific adhesion molecule + Coxsackie- and adenovirus receptor-like membrane protein + FLJ22415 + CAR-like membrane protein + adipocyte adhesion molecule + adipocyte-specific adhesion molecule + coxsackie- and adenovirus receptor-like membrane protein + + + gene with protein product + + + + Ensembl + ENSG00000166250 + + + Genatlas + ASAM + + + HGNC + 24039 + + + OMIM + 611693 + + + SwissProt + Q9H6B4 + + + ClinVar + ASAM + + + + + 11q24.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 469 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=469 + Hereditary fructose intolerance + + Disease + + + Disorder + + + + 20848650[PMID] + + aldolase, fructose-bisphosphate B + ALDOB + + + + gene with protein product + + + + Ensembl + ENSG00000136872 + + + Genatlas + ALDOB + + + HGNC + 417 + + + OMIM + 612724 + + + Reactome + P05062 + + + SwissProt + P05062 + + + ClinVar + ALDOB + + + + + 9q31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2308 + Jacobsen syndrome + + Malformation syndrome + + + Disorder + + + + 26285164[PMID] + + Fli-1 proto-oncogene, ETS transcription factor + FLI1 + + EWSR2 + SIC-1 + FLI-1 + + + gene with protein product + + + + Reactome + Q01543 + + + ClinVar + FLI1 + + + Ensembl + ENSG00000151702 + + + Genatlas + FLI1 + + + HGNC + 3749 + + + OMIM + 193067 + + + SwissProt + Q01543 + + + + + 11q24.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 2318 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318 + Joubert syndrome with oculorenal defect + + Malformation syndrome + + + Disorder + + + + 20615230[PMID]_20301500[PMID] + + centrosomal protein 290 + CEP290 + + Bardet-Biedl syndrome 14 + cancer/testis antigen 87 + nephrocystin-6 + rd16 + 3H11Ag + BBS14 + CT87 + FLJ13615 + JBTS5 + Joubert syndrome 5 + KIAA0373 + LCA10 + MKS4 + Meckel syndrome, type 4 + NPHP6 + POC3 + POC3 centriolar protein homolog (Chlamydomonas) + SLSN6 + + + gene with protein product + + + + ClinVar + CEP290 + + + Ensembl + ENSG00000198707 + + + Genatlas + CEP290 + + + HGNC + 29021 + + + OMIM + 610142 + + + Reactome + O15078 + + + SwissProt + O15078 + + + + + 12q21.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301500[PMID] + + coiled-coil and C2 domain containing 2A + CC2D2A + + JBTS9 + KIAA1345 + MKS6 + Meckel syndrome, type 6 + + + gene with protein product + + + + ClinVar + CC2D2A + + + Reactome + Q9P2K1 + + + SwissProt + Q9P2K1 + + + Ensembl + ENSG00000048342 + + + Genatlas + CC2D2A + + + HGNC + 29253 + + + OMIM + 612013 + + + + + 4p15.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301500[PMID] + + transmembrane protein 216 + TMEM216 + + HSPC244 + JBTS2 + MGC13379 + + + gene with protein product + + + + ClinVar + TMEM216 + + + Ensembl + ENSG00000187049 + + + Genatlas + TMEM216 + + + HGNC + 25018 + + + OMIM + 613277 + + + Reactome + Q9P0N5 + + + SwissProt + Q9P0N5 + + + + + 11q13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301500[PMID]_22152675[PMID] + + transmembrane protein 237 + TMEM237 + + JBTS14 + + + gene with protein product + + + + Ensembl + ENSG00000155755 + + + Genatlas + TMEM237 + + + HGNC + 14432 + + + OMIM + 614423 + + + SwissProt + Q96Q45 + + + ClinVar + TMEM237 + + + + + 2q33.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22282472[PMID] + + transmembrane protein 138 + TMEM138 + + HSPC196 + JBTS16 + + + gene with protein product + + + + Ensembl + ENSG00000149483 + + + Genatlas + TMEM138 + + + HGNC + 26944 + + + OMIM + 614459 + + + SwissProt + Q9NPI0 + + + ClinVar + TMEM138 + + + + + 11q12.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 22863007[PMID] + + zinc finger protein 423 + ZNF423 + + hOAZ + Early B-cell factor associated zinc finger protein + Ebfaz + JBTS19 + KIAA0760 + NPHP14 + OAZ + OLF-1/EBF associated zinc finger gene + Roaz + Zfp104 + Smad- and Olf-interacting zinc finger protein + early B-cell factor associated zinc finger protein + + + gene with protein product + + + + Ensembl + ENSG00000102935 + + + Genatlas + ZNF423 + + + HGNC + 16762 + + + OMIM + 604557 + + + SwissProt + Q2M1K9 + + + ClinVar + ZNF423 + + + + + 16q12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301500[PMID]_23012439[PMID] + + transmembrane protein 231 + TMEM231 + + ALYE870 + FLJ22167 + JBTS20 + MKS11 + PRO1886 + + + gene with protein product + + + + Ensembl + ENSG00000205084 + + + Genatlas + TMEM231 + + + HGNC + 37234 + + + OMIM + 614949 + + + SwissProt + Q9H6L2 + + + ClinVar + TMEM231 + + + + + 16q23.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2253 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2253 + Foveal hypoplasia-presenile cataract syndrome + + Disease + + + Disorder + + + + 9931324[PMID] + + paired box 6 + PAX6 + + AN + D11S812E + WAGR + aniridia, keratitis + Aniridia 1 + Aniridia 2 + + + gene with protein 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502 + Trichorhinophalangeal syndrome type 2 + + Malformation syndrome + + + Disorder + + + + 25792522[PMID] + + RAD21 cohesin complex component + RAD21 + + KIAA0078 + SCC1 + hHR21 + kleisin + sister chromatid cohesion 1 + + + gene with protein product + + + + Ensembl + ENSG00000164754 + + + Genatlas + RAD21 + + + HGNC + 9811 + + + OMIM + 606462 + + + Reactome + O60216 + + + SwissProt + O60216 + + + ClinVar + RAD21 + + + + + 8q24.11 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + transcriptional repressor GATA binding 1 + TRPS1 + + GC79 + LGCR + + + gene with protein product + + + + ClinVar + TRPS1 + + + Ensembl + ENSG00000104447 + + + Genatlas + TRPS1 + + + HGNC + 12340 + + + OMIM + 604386 + + + SwissProt + Q9UHF7 + + + + + 8q23.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + exostosin glycosyltransferase 1 + EXT1 + + Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase + N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase + ttv + + + gene with protein product + + + + ClinVar + EXT1 + + + HGNC + 3512 + + + OMIM + 608177 + + + Reactome + Q16394 + + + SwissProt + Q16394 + + + Ensembl + ENSG00000182197 + + + Genatlas + EXT1 + + + + + 8q24.11 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 477 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477 + KID syndrome + + Disease + + + Disorder + + + + + + gap junction protein beta 2 + GJB2 + + CX26 + NSRD1 + connexin 26 + + + gene with protein product + + + + ClinVar + GJB2 + + + Ensembl + ENSG00000165474 + + + Genatlas + GJB2 + + + HGNC + 4284 + + + OMIM + 121011 + + + Reactome + P29033 + + + SwissProt + P29033 + + + IUPHAR + 716 + + + + + 13q12.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 15140211[PMID] + + gap junction protein beta 6 + GJB6 + + CX30 + EDH + HED + connexin 30 + + + gene with protein 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patatin like domain 6, lysophospholipase + PNPLA6 + + NTE + SPG39 + SWS + iPLA2delta + neuropathy target esterase + sws + + + gene with protein product + + + + ClinVar + PNPLA6 + + + Reactome + Q8IY17 + + + Genatlas + PNPLA6 + + + HGNC + 16268 + + + OMIM + 603197 + + + SwissProt + Q8IY17 + + + Ensembl + ENSG00000032444 + + + + + 19p13.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 2466 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2466 + MASA syndrome + + Clinical subtype + + + Subtype of disorder + + + + 20301657[PMID] + + L1 cell adhesion molecule + L1CAM + + neural cell adhesion molecule L1 + CD171 + CAML1 + NCAM-L1 + + + gene with protein product + + + + ClinVar + L1CAM + + + Ensembl + ENSG00000198910 + + + Genatlas + L1CAM + + + HGNC + 6470 + + + OMIM + 308840 + + + Reactome + P32004 + + + SwissProt + P32004 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 560 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560 + Marshall syndrome + + Malformation syndrome + + + Disorder + + + + + + collagen type XI alpha 1 chain + COL11A1 + + CO11A1 + STL2 + collagen XI, alpha-1 polypeptide + + + gene with protein product + + + + ClinVar + COL11A1 + + + Ensembl + ENSG00000060718 + + + Genatlas + COL11A1 + + + HGNC + 2186 + + + OMIM + 120280 + + + Reactome + P12107 + + + SwissProt + P12107 + + + + + 1p21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 570 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570 + Moebius syndrome + + Disease + + + Disorder + + + + 26068067[PMID] + + plexin D1 + PLXND1 + + KIAA0620 + + + gene with protein product + + + + IUPHAR + 3299 + + + ClinVar + PLXND1 + + + Ensembl + ENSG00000004399 + + + Genatlas + PLXND1 + + + HGNC + 9107 + + + OMIM + 604282 + + + Reactome + Q9Y4D7 + + + SwissProt + Q9Y4D7 + + + + + 3q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + 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gene with protein product + + + + ClinVar + PSEN1 + + + Ensembl + ENSG00000080815 + + + Genatlas + PSEN1 + + + HGNC + 9508 + + + IUPHAR + 2402 + + + OMIM + 104311 + + + Reactome + P49768 + + + SwissProt + P49768 + + + + + 14q24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301414[PMID] + + presenilin 2 + PSEN2 + + AD3L + PS2 + STM2 + Alzheimer disease 3-like + E5-1 + PS-2 + + + gene with protein product + + + + ClinVar + PSEN2 + + + Ensembl + ENSG00000143801 + + + Genatlas + PSEN2 + + + HGNC + 9509 + + + IUPHAR + 2403 + + + OMIM + 600759 + + + Reactome + P49810 + + + SwissProt + P49810 + + + + + 1q42.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301414[PMID] + + amyloid beta precursor protein + APP + + peptidase nexin-II + alpha-sAPP + + + gene with protein product + + + + Ensembl + ENSG00000142192 + + + Genatlas + APP + + + HGNC + 620 + + + OMIM + 104760 + + + Reactome + P05067 + + + SwissProt + P05067 + + + ClinVar + APP + + + + + 21q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22472873[PMID] + + sortilin related receptor 1 + SORL1 + + LDLR relative with 11 ligand-binding repeats + LR11 + LRP9 + gp250 + SorLA-1 + SorLA + + + gene with protein product + + + + Reactome + Q92673 + + + Ensembl + ENSG00000137642 + + + Genatlas + SORL1 + + + HGNC + 11185 + + + OMIM + 602005 + + + SwissProt + Q92673 + + + ClinVar + SORL1 + + + + + 11q24.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 25201778[PMID]_23234877[PMID] + + translocase of outer mitochondrial membrane 40 + TOMM40 + + C19orf1 + D19S1177E + PER-EC1 + PEREC1 + TOM40 + + + gene with protein product + + + + HGNC + 18001 + + + Ensembl + ENSG00000130204 + + + OMIM + 608061 + + + SwissProt + O96008 + + + Genatlas + TOMM40 + + + Reactome + O96008 + + + ClinVar + TOMM40 + + + + + 19q13.32 + 1 + + + + + Biomarker tested in + + + Not yet assessed + + + + + + 54 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54 + X-linked recessive ocular albinism + + Disease + + + Disorder + + + + + + adaptor related protein complex 3 subunit delta 1 + AP3D1 + + ADTD + + + gene with protein product + + + + Genatlas + AP3D1 + + + ClinVar + AP3D1 + + + Ensembl + ENSG00000065000 + + + OMIM + 607246 + + + SwissProt + O14617 + + + HGNC + 568 + + + + + 19p13.3 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + G protein-coupled receptor 143 + GPR143 + + ocular albinism 1 + + + gene with protein product + + + + ClinVar + GPR143 + + + Reactome + P51810 + + + Ensembl + ENSG00000101850 + + + Genatlas + GPR143 + + + HGNC + 20145 + + + IUPHAR + 203 + + + OMIM + 300808 + + + SwissProt + P51810 + + + + + Xp22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 154 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=154 + Familial isolated dilated cardiomyopathy + + Disease + + + Disorder + + + + 28472305[PMID] + + TATA-box binding protein associated factor, RNA polymerase I subunit A + TAF1A + + SL1 + TAFI48 + + + gene with protein product + + + + HGNC + 11532 + + + Ensembl + ENSG00000143498 + + + SwissProt + Q15573 + + + OMIM + 604903 + + + Genatlas + TAF1A + + + Reactome + Q15573 + + + ClinVar + TAF1A + + + + + 1q41 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 31461301[PMID] + + guided entry of tail-anchored proteins factor 3, ATPase + GET3 + + TRC40 + golgi to ER traffic 3 homolog (S. cerevisiae) + ARSA-I + transmembrane domain recognition complex, 40kDa + + + gene with protein product + + + + HGNC + 752 + + + OMIM + 601913 + + + SwissProt + O43681 + + + Ensembl + ENSG00000198356 + + + + + 19p13.13 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 36657711[PMID] + + vascular endothelial zinc finger 1 + VEZF1 + + DB1 + + + gene with protein product + + + + HGNC + 12949 + + + Ensembl + ENSG00000136451 + + + OMIM + 606747 + + + SwissProt + Q14119 + + + + + 17q22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 32514796[PMID] + + ribosomal protein L3 like + RPL3L + + + + gene with protein product + + + + Ensembl + ENSG00000140986 + + + HGNC + 10351 + + + OMIM + 617416 + + + SwissProt + Q92901 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20215591[PMID]_20301486[PMID] + + myosin binding protein C3 + MYBPC3 + + FHC + MYBP-C + cMyBP-C + + + gene with protein product + + + + IUPHAR + 2880 + + + ClinVar + MYBPC3 + + + Ensembl + ENSG00000134571 + + + Genatlas + MYBPC3 + + + HGNC + 7551 + + + OMIM + 600958 + + + Reactome + Q14896 + + + SwissProt + Q14896 + + + + + 11p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 31227780[PMID] + + junctophilin 2 + JPH2 + + JP-2 + JP2 + junctophilin2 + + + gene with protein product + + + + Genatlas + JPH2 + + + HGNC + 14202 + + + OMIM + 605267 + + + SwissProt + Q9BR39 + + + Ensembl + ENSG00000149596 + + + ClinVar + JPH2 + + + + + 20q13.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 29754768[PMID] + + phosphopantothenoylcysteine synthetase + PPCS + + FLJ11838 + + + gene with protein product + + + + HGNC + 25686 + + + Ensembl + ENSG00000127125 + + + SwissProt + Q9HAB8 + + + OMIM + 609853 + + + Genatlas + PPCS + + + Reactome + Q9HAB8 + + + ClinVar + PPCS + + + + + 1p34.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 30518548[PMID] + + cyclase associated actin cytoskeleton regulatory protein 2 + CAP2 + + + + gene with protein product + + + + HGNC + 20039 + + + Ensembl + ENSG00000112186 + + + SwissProt + P40123 + + + Reactome + P40123 + + + OMIM + 618385 + + + + + 6p22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 35082396[PMID] + + leiomodin 2 + LMOD2 + + C-Lmod + cardiac leiomodin + + + gene with protein product + + + + HGNC + 6648 + + + Ensembl + ENSG00000170807 + + + SwissProt + Q6P5Q4 + + + OMIM + 608006 + + + + + 7q31.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 15034580[PMID] + + ATP binding cassette subfamily C member 9 + ABCC9 + + CMD1O + SUR2 + sulfonylurea receptor 2 + + + gene with protein product + + + + ClinVar + ABCC9 + + + Ensembl + ENSG00000069431 + + + Genatlas + ABCC9 + + + HGNC + 60 + + + IUPHAR + 2746 + + + OMIM + 601439 + + + Reactome + O60706 + + + SwissProt + O60706 + + + + + 12p12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 9563954[PMID]_20301486[PMID] + + actin alpha cardiac muscle 1 + ACTC1 + + CMD1R + + + gene with protein product + + + + ClinVar + ACTC1 + + + Ensembl + ENSG00000159251 + + + Genatlas + ACTC1 + + + HGNC + 143 + + + OMIM + 102540 + + + Reactome + P68032 + + + SwissProt + P68032 + + + + + 15q14 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 17186461[PMID]_20301486[PMID] + + presenilin 1 + PSEN1 + + FAD + PS1 + S182 + familial Alzheimer Disease + PS-1 + PSNL1 + + + gene with protein product + + + + ClinVar + PSEN1 + + + Ensembl + ENSG00000080815 + + + Genatlas + PSEN1 + + + HGNC + 9508 + + + IUPHAR + 2402 + + + OMIM + 104311 + + + Reactome + P49768 + + + SwissProt + P49768 + + + + + 14q24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 17186461[PMID]_20301486[PMID] + + presenilin 2 + PSEN2 + + AD3L + PS2 + STM2 + Alzheimer disease 3-like + E5-1 + PS-2 + + + gene with protein product + + + + ClinVar + PSEN2 + + + Ensembl + ENSG00000143801 + + + Genatlas + PSEN2 + + + HGNC + 9509 + + + IUPHAR + 2403 + + + OMIM + 600759 + + + Reactome + P49810 + + + SwissProt + P49810 + + + + + 1q42.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 15466643[PMID]_22766342[PMID]_20301486[PMID] + + sodium voltage-gated channel alpha subunit 5 + SCN5A + + CDCD2 + CMPD2 + HB1 + HB2 + 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SwissProt + O43526 + + + + + 20q13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 33603162[PMID] + + erb-b2 receptor tyrosine kinase 4 + ERBB4 + + ALS19 + HER4 + human epidermal growth factor receptor 4 + + + gene with protein product + + + + ClinVar + ERBB4 + + + Ensembl + ENSG00000178568 + + + Genatlas + ERBB4 + + + HGNC + 3432 + + + IUPHAR + 1799 + + + OMIM + 600543 + + + Reactome + Q15303 + + + SwissProt + Q15303 + + + + + 2q34 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 30879638[PMID] + + BR serine/threonine kinase 2 + BRSK2 + + brain selective kinase 2 + SAD-A + PEN11B + serine/threonine kinase 29 + + + gene with protein product + + + + HGNC + 11405 + + + Ensembl + ENSG00000174672 + + + SwissProt + Q8IWQ3 + + + Reactome + Q8IWQ3 + + + IUPHAR + 1947 + + + OMIM + 609236 + + + + + 11p15.5 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 34006619[PMID] + + solute carrier 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26153216[PMID]_27003583[PMID] + + HIVEP zinc finger 2 + HIVEP2 + + MIBP1 + HIV-EP2 + ZAS2 + ZNF40B + MBP-2 + Schnurri-2 + c-myc intron binding protein 1 + + + gene with protein product + + + + HGNC + 4921 + + + Genatlas + HIVEP2 + + + ClinVar + HIVEP2 + + + Ensembl + ENSG00000010818 + + + SwissProt + P31629 + + + OMIM + 143054 + + + + + 6q24.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 24307393[PMID] + + lysine demethylase 5B + KDM5B + + RBBP2H1A + PLU-1 + PPP1R98 + CT31 + protein phosphatase 1, regulatory subunit 98 + cancer/testis antigen 31 + + + gene with protein product + + + + HGNC + 18039 + + + ClinVar + KDM5B + + + OMIM + 605393 + + + Ensembl + ENSG00000117139 + + + Reactome + Q9UGL1 + + + IUPHAR + 2681 + + + SwissProt + Q9UGL1 + + + Genatlas + KDM5B + + + + + 1q32.1 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 36103875[PMID] + + gamma-aminobutyric acid type B receptor subunit 1 + GABBR1 + + hGB1a + GPRC3A + GABA-B receptor + + + gene with protein product + + + + HGNC + 4070 + + + Ensembl + ENSG00000204681 + + + SwissProt + Q9UBS5 + + + Reactome + Q9UBS5 + + + IUPHAR + 240 + + + OMIM + 603540 + + + + + 6p22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 35861646[PMID] + + dihydropyrimidinase like 2 + DPYSL2 + + DHPRP2 + DRP-2 + DRP2 + CRMP2 + + + gene with protein product + + + + HGNC + 3014 + + + Ensembl + ENSG00000092964 + + + OMIM + 602463 + + + SwissProt + Q16555 + + + + + 8p21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 29688601[PMID] + + SET nuclear proto-oncogene + SET + + Template-Activating Factor-I, chromatin remodelling factor + 2PP2A + IPP2A2 + PHAPII + protein phosphatase type 2A inhibitor + IGAAD + TAF-I + TAF-IBETA + Template-Activating Factor-I + chromatin remodelling factor + HLA-DR-associated protein II + inhibitor of granzyme A-activated DNase + + + gene with protein product + + + + HGNC + 10760 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FHL1B + FLH1A + Four-and-a-half LIM domains 1 + KYO-T + LIM protein SLIMMER + MGC111107 + SLIM1 + XMPMA + bA535K18.1 + + + gene with protein product + + + + Ensembl + ENSG00000022267 + + + Genatlas + FHL1 + + + HGNC + 3702 + + + OMIM + 300163 + + + SwissProt + Q13642 + + + ClinVar + FHL1 + + + Reactome + Q13642 + + + + + Xq26.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 178464 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178464 + Hereditary myopathy with early respiratory failure + + Disease + + + Disorder + + + + 24575448[PMID] + + titin + TTN + + CMH9 + CMPD4 + FLJ32040 + LGMD2J + MYLK5 + TMD + + + gene with protein product + + + + Reactome + Q8WZ42 + + + SwissProt + Q8WZ42 + + + ClinVar + TTN + + + Ensembl + ENSG00000155657 + + + Genatlas + TTN + + + HGNC + 12403 + + + IUPHAR + 2265 + + + OMIM + 188840 + + + + + 2q31.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 178396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178396 + Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation + + Disease + + + Disorder + + + + 19483159[PMID] + + serpin family A member 1 + SERPINA1 + + A1A + A1AT + AAT + PI1 + alpha-1-antitrypsin + alpha1AT + protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin + alpha-1 antitrypsin + anti-elastase + protease inhibitor 1 + alpha-1 proteinase inhibitor + + + gene with protein product + + + + ClinVar + SERPINA1 + + + Ensembl + ENSG00000197249 + + + Genatlas + SERPINA1 + + + HGNC + 8941 + + + OMIM + 107400 + + + Reactome + P01009 + + + SwissProt + P01009 + + + + + 14q32.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 178400 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178400 + Distal myopathy with anterior tibial onset + + Disease + + + Disorder + + + + 19493611[PMID] + + dysferlin + DYSF + + FER1L1 + fer-1-like family member 1 + + + gene with protein product + + + + Ensembl + ENSG00000135636 + + + Genatlas + DYSF + + + HGNC + 3097 + + + OMIM + 603009 + + + Reactome + O75923 + + + SwissProt + O75923 + + + ClinVar + DYSF + + + + + 2p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 178389 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178389 + Osteopetrosis-hypogammaglobulinemia syndrome + + Disease + + + Disorder + + + + 18606301[PMID] + + TNF receptor superfamily member 11a + TNFRSF11A + + CD265 + FEO + RANK + osteoclast differentiation factor receptor + ODFR + receptor activator of nuclear factor kappa B + TRANCE-R + TRANCE receptor + familial expansile osteolysis + + + gene with protein product + + + + IUPHAR + 1881 + + + Ensembl + ENSG00000141655 + + + Genatlas + TNFRSF11A + + + HGNC + 11908 + + + OMIM + 603499 + + + Reactome + Q9Y6Q6 + + + SwissProt + Q9Y6Q6 + + + ClinVar + TNFRSF11A + + + + + 18q21.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + 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ClinVar + OTX2 + + + + + 14q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 715 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715 + Glycogen storage disease due to muscle phosphorylase kinase deficiency + + Disease + + + Disorder + + + + + + phosphorylase kinase regulatory subunit alpha 1 + PHKA1 + + + + gene with protein product + + + + ClinVar + PHKA1 + + + Reactome + P46020 + + + SwissProt + P46020 + + + Ensembl + ENSG00000067177 + + + Genatlas + PHKA1 + + + HGNC + 8925 + + + OMIM + 311870 + + + + + Xq13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + phosphorylase kinase catalytic subunit gamma 1 + PHKG1 + + + + gene with protein product + + + + IUPHAR + 2145 + + + OMIM + 172470 + + + Reactome + Q16816 + + + SwissProt + Q16816 + + + Ensembl + ENSG00000164776 + + + Genatlas + PHKG1 + + + HGNC + 8930 + + + ClinVar + PHKG1 + + + + + 7p11.2 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 178377 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178377 + Osteosclerosis-developmental delay-craniosynostosis syndrome + + Malformation syndrome + + + Disorder + + + + 15940380[PMID] + + LDL receptor related protein 5 + LRP5 + + BMND1 + EVR4 + HBM + LR3 + OPS + OPTA1 + VBCH2 + + + gene with protein product + + + + ClinVar + LRP5 + + + Ensembl + ENSG00000162337 + + + Genatlas + LRP5 + + + HGNC + 6697 + + + OMIM + 603506 + + + Reactome + O75197 + + + SwissProt + O75197 + + + + + 11q13.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 348 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=348 + Fructose-1,6-bisphosphatase deficiency + + Disease + + + Disorder + + + + 9382095[PMID]_12126934[PMID]_24007283[PMID] + + fructose-bisphosphatase 1 + FBP1 + + + + gene with protein product + + + + ClinVar + FBP1 + + + Genatlas + FBP1 + + + HGNC + 3606 + + + OMIM + 611570 + + + Reactome + P09467 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interleukin 23 receptor + IL23R + + IL-23R + + + gene with protein product + + + + Reactome + Q5VWK5 + + + ClinVar + IL23R + + + Ensembl + ENSG00000162594 + + + Genatlas + IL23R + + + HGNC + 19100 + + + OMIM + 607562 + + + SwissProt + Q5VWK5 + + + IUPHAR + 1717 + + + + + 1p31.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 23633568[PMID] + + MEFV innate immunity regulator, pyrin + MEFV + + FMF + TRIM20 + marenostrin + + + gene with protein product + + + + Ensembl + ENSG00000103313 + + + Genatlas + MEFV + + + HGNC + 6998 + + + OMIM + 608107 + + + Reactome + O15553 + + + SwissProt + O15553 + + + ClinVar + MEFV + + + + + 16p13.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 23001997[PMID]_26097239[PMID] + + signal transducer and activator of transcription 4 + STAT4 + + + + gene with protein product + + + + Ensembl + ENSG00000138378 + + + Genatlas + STAT4 + + + HGNC + 11365 + + + OMIM + 600558 + + + SwissProt + Q14765 + + + Reactome + Q14765 + + 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33393726[PMID] + + interferon gamma receptor 1 + IFNGR1 + + CD119 + + + gene with protein product + + + + ClinVar + IFNGR1 + + + IUPHAR + 1725 + + + Ensembl + ENSG00000027697 + + + Genatlas + IFNGR1 + + + HGNC + 5439 + + + OMIM + 107470 + + + Reactome + P15260 + + + SwissProt + P15260 + + + + + 6q23.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 178509 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178509 + Perry syndrome + + Disease + + + Disorder + + + + + + dynactin subunit 1 + DCTN1 + + p150 glued homolog (Drosophila) + + + gene with protein product + + + + Ensembl + ENSG00000204843 + + + Genatlas + DCTN1 + + + HGNC + 2711 + + + OMIM + 601143 + + + Reactome + Q14203 + + + SwissProt + Q14203 + + + ClinVar + DCTN1 + + + + + 2p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 178506 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178506 + Interstitial lung disease-brain calcification syndrome 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20301578[PMID]_25611311[PMID]_19302446[PMID] + + coagulation factor VIII + F8 + + DXS1253E + FVIII + Factor VIIIF8B + HEMA + hemophilia A + + + gene with protein product + + + + ClinVar + F8 + + + Ensembl + ENSG00000185010 + + + Genatlas + F8 + + + HGNC + 3546 + + + IUPHAR + 2607 + + + OMIM + 300841 + + + Reactome + P00451 + + + SwissProt + P00451 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 177929 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177929 + Bleeding disorder in hemophilia B carriers + + Clinical subtype + + + Subtype of disorder + + + + + + coagulation factor IX + F9 + + Christmas disease + FIX + Factor IX + hemophilia B + plasma thromboplastic component + + + gene with protein product + + + + ClinVar + F9 + + + Ensembl + ENSG00000101981 + + + Genatlas + F9 + + + HGNC + 3551 + + + IUPHAR + 2364 + + + OMIM + 300746 + + + Reactome + P00740 + + + SwissProt + P00740 + + + + + Xq27.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 177901 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901 + Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 + + Etiological subtype + + + Subtype of disorder + + + + 20301505[PMID]_22495932[PMID]_28296064[PMID] + + small nucleolar RNA, C/D box 115 cluster + SNORD115@ + + HBII-52 + + + Non-coding RNA + + + + Genatlas + SNORD115@ + + + HGNC + 32780 + + + OMIM + 609837 + + + ClinVar + SNORD115@ + + + + + 15q11.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 20301505[PMID] + + small nuclear ribonucleoprotein polypeptide N + SNRPN + + HCERN3 + RT-LI + SM protein N + SM-D + SMN + SNRNP-N + SNURF-SNRPN + small nuclear ribonucleoprotein N + tissue-specific splicing protein + + + gene with protein product + + + + Reactome + P63162 + + + Ensembl + ENSG00000128739 + + + Genatlas + SNRPN + + + HGNC + 11164 + + + OMIM + 182279 + + + SwissProt + P63162 + + + ClinVar + SNRPN + + + + 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Disease + + + Disorder + + + + 20301343[PMID] + + glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase + GNE + + Uae1 + bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase + + + gene with protein product + + + + ClinVar + GNE + + + Ensembl + ENSG00000159921 + + + Genatlas + GNE + + + HGNC + 23657 + + + OMIM + 603824 + + + Reactome + Q9Y223 + + + SwissProt + Q9Y223 + + + + + 9p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2882 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2882 + Sitosterolemia + + Disease + + + Disorder + + + + 11138003[PMID]_23556150[PMID] + + ATP binding cassette subfamily G member 5 + ABCG5 + + STSL + sterolin 1 + + + gene with protein product + + + + IUPHAR + 794 + + + ClinVar + ABCG5 + + + Genatlas + ABCG5 + + + HGNC + 13886 + + + OMIM + 605459 + + + Reactome + Q9H222 + + + SwissProt + Q9H222 + + + Ensembl + ENSG00000138075 + + + + + 2p21 + 1 + + + + + Disease-causing 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Subtype of disorder + + + + 35790048[PMID] + + tryptophanyl-tRNA synthetase 1 + WARS1 + + IFP53 + tryptophan tRNA ligase 1, cytoplasmic + + + gene with protein product + + + + ClinVar + WARS + + + HGNC + 12729 + + + Ensembl + ENSG00000140105 + + + SwissProt + P23381 + + + OMIM + 191050 + + + Genatlas + WARS + + + Reactome + P23381 + + + + + 14q32.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 35790048[PMID] + + seryl-tRNA synthetase 1 + SARS1 + + serine tRNA ligase 1, cytoplasmic + SERS + + + gene with protein product + + + + ClinVar + SARS + + + HGNC + 10537 + + + Ensembl + ENSG00000031698 + + + SwissProt + P49591 + + + OMIM + 607529 + + + Genatlas + SARS + + + Reactome + P49591 + + + + + 1p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 27453578[PMID] + + citron rho-interacting serine/threonine kinase + CIT + + serine/threonine kinase 21 + CRIK + KIAA0949 + STK21 + CITK + + + gene with protein product + + + + Ensembl + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829 + 6q16 microdeletion syndrome + + Disease + + + Disorder + + + + 24038875[PMID] + + SIM bHLH transcription factor 1 + SIM1 + + bHLHe14 + + + gene with protein product + + + + ClinVar + SIM1 + + + Ensembl + ENSG00000112246 + + + Genatlas + SIM1 + + + HGNC + 10882 + + + OMIM + 603128 + + + SwissProt + P81133 + + + + + 6q16.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 171851 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171851 + MEDNIK syndrome + + Disease + + + Disorder + + + + 31630791[PMID] + + adaptor related protein complex 1 subunit beta 1 + AP1B1 + + BAM22 + AP105A + + + gene with protein product + + + + HGNC + 554 + + + Ensembl + ENSG00000100280 + + + SwissProt + Q10567 + + + Reactome + Q10567 + + + OMIM + 600157 + + + + + 22q12.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 19057675[PMID] + + adaptor related protein complex 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ClinVar + JAG1 + + + + + 20p12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 29045289[PMID] + + NK2 homeobox 5 + NKX2-5 + + tinman paralog (Drosophila) + CSX1 + NKX2.5 + NKX4-1 + tinman (Drosophila) homolog + + + gene with protein product + + + + Reactome + P52952 + + + SwissProt + P52952 + + + Ensembl + ENSG00000183072 + + + Genatlas + NKX2-5 + + + HGNC + 2488 + + + OMIM + 600584 + + + ClinVar + NKX2-5 + + + + + 5q35.1 + 1 + + + + + Candidate gene tested in + + + Assessed + + + + 23289003[PMID] + + GATA binding protein 5 + GATA5 + + GATAS + bB379O24.1 + + + gene with protein product + + + + HGNC + 15802 + + + OMIM + 611496 + + + Reactome + Q9BWX5 + + + SwissProt + Q9BWX5 + + + Ensembl + ENSG00000130700 + + + Genatlas + GATA5 + + + ClinVar + GATA5 + + + + + 20q13.33 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 22713807[PMID] + + gap junction protein alpha 5 + GJA5 + + CX40 + connexin 40 + + + gene with 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Disorder + + + + + + ATP binding cassette subfamily C member 2 + ABCC2 + + DJS + MRP2 + cMRP + + + gene with protein product + + + + ClinVar + ABCC2 + + + IUPHAR + 780 + + + Ensembl + ENSG00000023839 + + + Genatlas + ABCC2 + + + HGNC + 53 + + + OMIM + 601107 + + + Reactome + Q92887 + + + SwissProt + Q92887 + + + + + 10q24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 199348 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199348 + Thiamine-responsive encephalopathy + + Disease + + + Disorder + + + + 19387023[PMID] + + solute carrier family 19 member 3 + SLC19A3 + + THTR2 + thiamine transporter 2 + hTHTR2 + thTr-2 + + + gene with protein product + + + + SwissProt + Q9BZV2 + + + Ensembl + ENSG00000135917 + + + Genatlas + SLC19A3 + + + HGNC + 16266 + + + OMIM + 606152 + + + Reactome + Q9BZV2 + + + ClinVar + SLC19A3 + + + IUPHAR + 1016 + + + + + 2q36.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3287 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3287 + Takayasu arteritis + + Disease + + + Disorder + + + + 23830516[PMID]_23830507[PMID] + + major histocompatibility complex, class I, B + HLA-B + + + + gene with protein product + + + + ClinVar + HLA-B + + + Ensembl + ENSG00000234745 + + + Genatlas + HLA-B + + + HGNC + 4932 + + + OMIM + 142830 + + + SwissProt + P01889 + + + Reactome + P30486 + + + + + 6p21.33 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 23830516[PMID]_23830507[PMID] + + interleukin 12B + IL12B + + CLMF + CLMF2 + IL-12B + IL12, subunit p40 + NKSF + cytotoxic lymphocyte maturation factor 2, p40 + interleukin 12, p40 + interleukin-12 beta chain + natural killer cell stimulatory factor, 40 kD subunit + natural killer cell stimulatory factor-2 + + + gene with protein product + + + + Reactome + P29460 + + + ClinVar + IL12B + + + Genatlas + IL12B + + + HGNC + 5970 + + + OMIM + 161561 + + + SwissProt + P29460 + + + Ensembl + ENSG00000113302 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mutation(s) in + + + Assessed + + + + + + 2800 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2800 + Extramammary Paget disease + + Disease + + + Disorder + + + + 31860417[PMID] + + erb-b2 receptor tyrosine kinase 2 + ERBB2 + + HER2 + NEU + HER-2 + CD340 + neuro/glioblastoma derived oncogene homolog + human epidermal growth factor receptor 2 + metastatic lymph node gene 19 + c-ERB-2 + p185(erbB2) + MLN-19 + c-ERB2 + + + gene with protein product + + + + SwissProt + P04626 + + + ClinVar + ERBB2 + + + OMIM + 164870 + + + IUPHAR + 2019 + + + Ensembl + ENSG00000141736 + + + Genatlas + ERBB2 + + + HGNC + 3430 + + + + + 17q12 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 199326 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199326 + Isolated autosomal dominant hypomagnesemia, Glaudemans type + + Disease + + + Disorder + + + + 19307729[PMID] + + potassium voltage-gated channel subfamily A member 1 + KCNA1 + + HUK1 + Kv1.1 + MBK1 + RBK1 + + + gene with protein product + + + + Ensembl + ENSG00000111262 + + + Genatlas + KCNA1 + + + HGNC + 6218 + + + IUPHAR + 538 + + + OMIM + 176260 + + + Reactome + Q09470 + + + SwissProt + Q09470 + + + ClinVar + KCNA1 + + + + + 12p13.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 199332 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199332 + Endocrine-cerebro-osteodysplasia syndrome + + Malformation syndrome + + + Disorder + + + + 19185282[PMID] + + ciliogenesis associated kinase 1 + CILK1 + + KIAA0936 + LCK2 + MGC46090 + MRK + MAK-related kinase + serine/threonine-protein kinase ICK + + + gene with protein product + + + + Reactome + Q9UPZ9 + + + SwissProt + Q9UPZ9 + + + Ensembl + ENSG00000112144 + + + Genatlas + ICK + + + HGNC + 21219 + + + IUPHAR + 2038 + + + OMIM + 612325 + + + ClinVar + ICK + + + + + 6p12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 199329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199329 + Congenital myopathy, Paradas type + + Disease + + + Disorder + + + + 19084402[PMID] + + dysferlin + DYSF + + FER1L1 + fer-1-like family member 1 + + + gene with protein product + + + + Ensembl + ENSG00000135636 + + + Genatlas + DYSF + + + HGNC + 3097 + + + OMIM + 603009 + + + Reactome + O75923 + + + SwissProt + O75923 + + + ClinVar + DYSF + + + + + 2p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2665 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2665 + Congenital mesoblastic nephroma + + Disease + + + Disorder + + + + 12165445[PMID]_16681692[PMID] + + ETS variant transcription factor 6 + ETV6 + + TEL + TEL oncogene + + + gene with protein product + + + + Reactome + P41212 + + + Ensembl + ENSG00000139083 + + + Genatlas + ETV6 + + + HGNC + 3495 + + + OMIM + 600618 + + + SwissProt + P41212 + + + ClinVar + ETV6 + + + + + 12p13.2 + 1 + + + + + Part of a fusion gene 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3452 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3452 + Whipple disease + + Disease + + + Disorder + + + + 29537367[PMID] + + interferon regulatory factor 4 + IRF4 + + LSIRF + + + gene with protein product + + + + ClinVar + IRF4 + + + HGNC + 6119 + + + Reactome + Q15306 + + + SwissProt + Q15306 + + + Ensembl + ENSG00000137265 + + + Genatlas + IRF4 + + + OMIM + 601900 + + + + + 6p25.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 199285 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199285 + Hereditary hypercarotenemia and vitamin A deficiency + + Disease + + + Disorder + + + + 17951468[PMID] + + beta-carotene oxygenase 1 + BCO1 + + BCMO + FLJ10730 + + + gene with protein product + + + + Ensembl + ENSG00000135697 + + + Genatlas + BCMO1 + + + HGNC + 13815 + + + OMIM + 605748 + + + Reactome + Q9HAY6 + + + SwissProt + Q9HAY6 + + + ClinVar + BCMO1 + + + + + 16q23.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=267 + Calpain-3-related limb-girdle muscular dystrophy R1 + + Disease + + + Disorder + + + + 20301582[PMID] + + calpain 3 + CAPN3 + + CANP3 + nCL-1 + p94 + + + gene with protein product + + + + Ensembl + ENSG00000092529 + + + Genatlas + CAPN3 + + + HGNC + 1480 + + + OMIM + 114240 + + + SwissProt + P20807 + + + Reactome + P20807 + + + ClinVar + CAPN3 + + + + + 15q15.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 186 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=186 + Primary biliary cholangitis + + Disease + + + Disorder + + + + + + interleukin 12 receptor subunit beta 1 + IL12RB1 + + CD212 + + + gene with protein product + + + + Reactome + P42701 + + + ClinVar + IL12RB1 + + + Ensembl + ENSG00000096996 + + + Genatlas + IL12RB1 + + + HGNC + 5971 + + + OMIM + 601604 + + + SwissProt + P42701 + + + IUPHAR + 1715 + + + + + 19p13.11 + 1 + + + + + Major susceptibility factor in + + 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Hyperalphalipoproteinemia + + Biological anomaly + + + Disorder + + + + 34207236[PMID] + + cholesteryl ester transfer protein + CETP + + BPI fold containing family F + BPIFF + + + gene with protein product + + + + IUPHAR + 3248 + + + Ensembl + ENSG00000087237 + + + Genatlas + CETP + + + HGNC + 1869 + + + OMIM + 118470 + + + Reactome + P11597 + + + SwissProt + P11597 + + + ClinVar + CETP + + + + + 16q13 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 23701270[PMID] + + apolipoprotein C3 + APOC3 + + Apo-CIII + APOCIII + Apo-C3 + ApoC-III + ApoC-3 + + + gene with protein product + + + + ClinVar + APOC3 + + + Ensembl + ENSG00000110245 + + + Genatlas + APOC3 + + + HGNC + 610 + + + OMIM + 107720 + + + Reactome + P02656 + + + SwissProt + P02656 + + + + + 11q23.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 21480869[PMID] + + scavenger receptor class B member 1 + SCARB1 + + CLA-1 + SRB1 + SR-BI + CLA1 + + + gene with protein product + + + + Ensembl + ENSG00000073060 + + + OMIM + 601040 + + + SwissProt + Q8WTV0 + + + HGNC + 1664 + + + + + 12q24.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 709 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709 + Peters plus syndrome + + Malformation syndrome + + + Disorder + + + + 20301637[PMID] + + beta 3-glucosyltransferase + B3GLCT + + B3GTL + B3Glc-T + beta-1,3-glucosyltransferase + + + gene with protein product + + + + ClinVar + B3GALTL + + + Ensembl + ENSG00000187676 + + + Genatlas + B3GALTL + + + HGNC + 20207 + + + OMIM + 610308 + + + Reactome + Q6Y288 + + + SwissProt + Q6Y288 + + + + + 13q12.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 776 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=776 + Lujan-Fryns syndrome + + Malformation syndrome + + + Disorder + + + + 17369503[PMID] + + mediator complex subunit 12 + MED12 + + CAGH45 + HOPA 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HGNC + 20439 + + + OMIM + 300298 + + + Reactome + Q9BZI7 + + + SwissProt + Q9BZI7 + + + ClinVar + UPF3B + + + + + Xq24 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 902 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=902 + Werner syndrome + + Disease + + + Disorder + + + + 20301687[PMID]_16673358[PMID] + + WRN RecQ like helicase + WRN + + RECQ3 + RECQL2 + + + gene with protein product + + + + ClinVar + WRN + + + OMIM + 604611 + + + Reactome + Q14191 + + + SwissProt + Q14191 + + + Ensembl + ENSG00000165392 + + + Genatlas + WRN + + + HGNC + 12791 + + + IUPHAR + 3259 + + + + + 8p12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 888 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=888 + Van der Woude syndrome + + Malformation syndrome + + + Disorder + + + + + + interferon regulatory factor 6 + IRF6 + + OFC6 + VWS1 + + + gene with protein product + + + + ClinVar + IRF6 + + + Ensembl + 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600235 + + + Reactome + Q07699 + + + SwissProt + Q07699 + + + + + 19q13.11 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 12598077[PMID]_19251209[PMID]_22717692[PMID] + + sodium voltage-gated channel alpha subunit 5 + SCN5A + + CDCD2 + CMPD2 + HB1 + HB2 + HBBD + HH1 + ICCD + IVF + LQT3 + Nav1.5 + PFHB1 + SSS1 + long QT syndrome 3 + + + gene with protein product + + + + ClinVar + SCN5A + + + Ensembl + ENSG00000183873 + + + Genatlas + SCN5A + + + HGNC + 10593 + + + IUPHAR + 582 + + + OMIM + 600163 + + + Reactome + Q14524 + + + SwissProt + Q14524 + + + + + 3p22.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 22179962[PMID] + + NK2 homeobox 5 + NKX2-5 + + tinman paralog (Drosophila) + CSX1 + NKX2.5 + NKX4-1 + tinman (Drosophila) homolog + + + gene with protein product + + + + Reactome + P52952 + + + SwissProt + P52952 + + + Ensembl + ENSG00000183072 + + + Genatlas + NKX2-5 + + + HGNC + 2488 + 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ENSG00000139687 + + + Genatlas + RB1 + + + HGNC + 9884 + + + OMIM + 614041 + + + Reactome + P06400 + + + + + 13q14.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 1627 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1627 + Deletion 5q35 syndrome + + Malformation syndrome + + + Disorder + + + + 17910075[PMID] + + NK2 homeobox 5 + NKX2-5 + + tinman paralog (Drosophila) + CSX1 + NKX2.5 + NKX4-1 + tinman (Drosophila) homolog + + + gene with protein product + + + + Reactome + P52952 + + + SwissProt + P52952 + + + Ensembl + ENSG00000183072 + + + Genatlas + NKX2-5 + + + HGNC + 2488 + + + OMIM + 600584 + + + ClinVar + NKX2-5 + + + + + 5q35.1 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 17910075[PMID] + + nuclear receptor binding SET domain protein 1 + NSD1 + + ARA267 + FLJ22263 + KMT3B + histone-lysine N-methyltransferase, H3 lysine-36 specific + + + gene with protein product + + + + ClinVar + NSD1 + + + IUPHAR + 2696 + + + Ensembl + ENSG00000165671 + + + Genatlas + NSD1 + + + HGNC + 14234 + + + OMIM + 606681 + + + Reactome + Q96L73 + + + SwissProt + Q96L73 + + + + + 5q35.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 500 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500 + Noonan syndrome with multiple lentigines + + Malformation syndrome + + + Disorder + + + + 20301557[PMID] + + protein tyrosine phosphatase non-receptor type 11 + PTPN11 + + BPTP3 + PTP2C + SH-PTP2 + SHP-2 + SHP2 + SH2 domain-containing protein tyrosine phosphatase 2 + + + gene with protein product + + + + ClinVar + PTPN11 + + + Ensembl + ENSG00000179295 + + + Genatlas + PTPN11 + + + HGNC + 9644 + + + OMIM + 176876 + + + Reactome + Q06124 + + + SwissProt + Q06124 + + + IUPHAR + 3203 + + + + + 12q24.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301557[PMID] + + B-Raf proto-oncogene, serine/threonine kinase + BRAF + + BRAF1 + BRAF-1 + + + gene with protein product + + + + 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1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 21129722[PMID] + + mitogen-activated protein kinase kinase kinase 1 + MAP3K1 + + MAPKKK1 + MEKK + + + gene with protein product + + + + ClinVar + MAP3K1 + + + Ensembl + ENSG00000095015 + + + Genatlas + MAP3K1 + + + HGNC + 6848 + + + IUPHAR + 2069 + + + OMIM + 600982 + + + Reactome + Q13233 + + + SwissProt + Q13233 + + + + + 5q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20685758[PMID] + + doublesex and mab-3 related transcription factor 1 + DMRT1 + + CT154 + DM domain expressed in testis 1 + DMT1 + + + gene with protein product + + + + ClinVar + DMRT1 + + + Ensembl + ENSG00000137090 + + + Genatlas + DMRT1 + + + HGNC + 2934 + + + OMIM + 602424 + + + SwissProt + Q9Y5R6 + + + + + 9p24.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 2052 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052 + Fraser syndrome + + Malformation syndrome + + + Disorder + + + + 23473829[PMID] + + Fraser extracellular matrix complex subunit 1 + FRAS1 + + FLJ14927 + FLJ22031 + KIAA1500 + + + gene with protein product + + + + ClinVar + FRAS1 + + + Ensembl + ENSG00000138759 + + + Genatlas + FRAS1 + + + HGNC + 19185 + + + OMIM + 607830 + + + SwissProt + Q86XX4 + + + + + 4q21.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 18671281[PMID] + + FRAS1 related extracellular matrix 2 + FREM2 + + DKFZp686J0811 + + + gene with protein product + + + + HGNC + 25396 + + + OMIM + 608945 + + + SwissProt + Q5SZK8 + + + ClinVar + FREM2 + + + Ensembl + ENSG00000150893 + + + Genatlas + FREM2 + + + + + 13q13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22510445[PMID] + + glutamate receptor interacting protein 1 + GRIP1 + + + + gene with protein product + + + + ClinVar + GRIP1 + + + Ensembl + ENSG00000155974 + + + Genatlas + GRIP1 + + + HGNC + 18708 + + + OMIM + 604597 + + + Reactome + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111 + Barth syndrome + + Disease + + + Disorder + + + + 23843353[PMID] + + tafazzin, phospholipid-lysophospholipid transacylase + TAFAZZIN + + BTHS + Barth syndrome + G4.5 + TAZ1 + XAP-2 + transcriptional coactivator with PDZ-binding motif + + + gene with protein product + + + + Ensembl + ENSG00000102125 + + + Genatlas + TAZ + + + HGNC + 11577 + + + OMIM + 300394 + + + Reactome + Q16635 + + + SwissProt + Q16635 + + + ClinVar + TAZ + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 1308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1308 + C syndrome + + Malformation syndrome + + + Disorder + + + + 17847009[PMID]_19449408[PMID] + + CD96 molecule + CD96 + + TACTILE + T cell activation, increased late expression + T-cell surface protein tactile + + + gene with protein product + + + + Ensembl + ENSG00000153283 + + + Genatlas + CD96 + + + HGNC + 16892 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=931 + Isolated acheiropodia + + Morphological anomaly + + + Disorder + + + + 11090342[PMID] + + limb development membrane protein 1 + LMBR1 + + ACHP + FLJ11665 + ZRS + + + gene with protein product + + + + ClinVar + LMBR1 + + + Ensembl + ENSG00000105983 + + + Genatlas + LMBR1 + + + HGNC + 13243 + + + OMIM + 605522 + + + SwissProt + Q8WVP7 + + + + + 7q36.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 869 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=869 + Triple A syndrome + + Disease + + + Disorder + + + + 27707803[PMID] + + trafficking protein particle complex subunit 11 + TRAPPC11 + + FLJ12716 + foie gras homolog (zebrafish) + foigr + gry + gryzun homolog (Drosophila) + + + gene with protein product + + + + ClinVar + TRAPPC11 + + + Ensembl + ENSG00000168538 + + + Genatlas + TRAPPC11 + + + HGNC + 25751 + + + OMIM + 614138 + + + SwissProt + Q7Z392 + + + Reactome + Q7Z392 + 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Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 950 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=950 + Acrodysostosis + + Malformation syndrome + + + Disorder + + + + 22464250[PMID]_22464252[PMID] + + phosphodiesterase 4D + PDE4D + + cAMP-specific 3',5'-cyclic phosphodiesterase 4D + phosphodiesterase E3 dunce homolog (Drosophila) + + + gene with protein product + + + + IUPHAR + 1303 + + + Ensembl + ENSG00000113448 + + + Genatlas + PDE4D + + + HGNC + 8783 + + + OMIM + 600129 + + + Reactome + Q08499 + + + SwissProt + Q08499 + + + ClinVar + PDE4D + + + + + 5q11.2-q12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21651393[PMID]_22464250[PMID]_22464252[PMID] + + protein kinase cAMP-dependent type I regulatory subunit alpha + PRKAR1A + + CNC1 + Carney complex type 1 + + + gene with protein product + + + + Ensembl + ENSG00000108946 + + + Genatlas + PRKAR1A + + + HGNC + 9388 + + + IUPHAR + 1472 + + + OMIM 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SwissProt + Q5NDL2 + + + + + 3p14.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26299364[PMID] + + delta like canonical Notch ligand 4 + DLL4 + + + + gene with protein product + + + + Ensembl + ENSG00000128917 + + + Genatlas + DLL4 + + + HGNC + 2910 + + + OMIM + 605185 + + + Reactome + Q9NR61 + + + SwissProt + Q9NR61 + + + ClinVar + DLL4 + + + + + 15q15.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 972 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=972 + Hereditary continuous muscle fiber activity + + Disease + + + Disorder + + + + 17136396[PMID] + + potassium voltage-gated channel subfamily A member 1 + KCNA1 + + HUK1 + Kv1.1 + MBK1 + RBK1 + + + gene with protein product + + + + Ensembl + ENSG00000111262 + + + Genatlas + KCNA1 + + + HGNC + 6218 + + + IUPHAR + 538 + + + OMIM + 176260 + + + Reactome + Q09470 + + + SwissProt + Q09470 + + + ClinVar + KCNA1 + + + + + 12p13.32 + 1 + + + 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P43026 + + + SwissProt + P43026 + + + Ensembl + ENSG00000125965 + + + Genatlas + GDF5 + + + HGNC + 4220 + + + + + 20q11.22 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 139411 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139411 + Carney triad + + Disease + + + Disorder + + + + 26173966[PMID] + + succinate dehydrogenase complex flavoprotein subunit A + SDHA + + FP + SDHF + flavoprotein subunit of complex II + succinate dehydrogenase [ubiquinone] flavoprotein subunit + + + gene with protein product + + + + ClinVar + SDHA + + + Ensembl + ENSG00000073578 + + + Genatlas + SDHA + + + HGNC + 10680 + + + OMIM + 600857 + + + Reactome + P31040 + + + SwissProt + P31040 + + + + + 5p15.33 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 26173966[PMID] + + succinate dehydrogenase complex iron sulfur subunit B + SDHB + + iron-sulfur subunit of complex II + succinate dehydrogenase [ubiquinone] iron-sulfur subunit + + + gene with protein product + + + + ClinVar + SDHB + + + Reactome + P21912 + + + SwissProt + P21912 + + + Ensembl + ENSG00000117118 + + + Genatlas + SDHB + + + HGNC + 10681 + + + OMIM + 185470 + + + + + 1p36.13 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 26173966[PMID] + + succinate dehydrogenase complex subunit C + SDHC + + CYB560 + cybL + large subunit of cytochrome b + succinate dehydrgenase cytochrome b + succinate dehydrogenase cytochrome b560 subunit + + + gene with protein product + + + + ClinVar + SDHC + + + Ensembl + ENSG00000143252 + + + Genatlas + SDHC + + + HGNC + 10682 + + + OMIM + 602413 + + + Reactome + Q99643 + + + SwissProt + Q99643 + + + + + 1q23.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 1031 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1031 + Enamel-renal syndrome + + Malformation syndrome + + + Disorder + + + + 23434854[PMID] + + FAM20A golgi associated secretory pathway pseudokinase + FAM20A + + DKFZp434F2322 + + + gene with protein product + + + + Ensembl + ENSG00000108950 + + + Genatlas + FAM20A + + + HGNC + 23015 + + + OMIM + 611062 + + + SwissProt + Q96MK3 + + + Reactome + Q96MK3 + + + ClinVar + FAM20A + + + + + 17q24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 64 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64 + Alström syndrome + + Disease + + + Disorder + + + + 20301444[PMID] + + ALMS1 centrosome and basal body associated protein + ALMS1 + + KIAA0328 + + + gene with protein product + + + + ClinVar + ALMS1 + + + Ensembl + ENSG00000116127 + + + Genatlas + ALMS1 + + + HGNC + 428 + + + OMIM + 606844 + + + Reactome + Q8TCU4 + + + SwissProt + Q8TCU4 + + + + + 2p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 139396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396 + X-linked cerebral adrenoleukodystrophy + + Clinical subtype + + + Subtype of disorder + + + + 20301491[PMID] + + ATP binding cassette subfamily D member 1 + ABCD1 + + ALDP + AMN + adrenoleukodystrophy + + + gene with protein product + + + + IUPHAR + 788 + + + ClinVar + ABCD1 + + + Ensembl + ENSG00000101986 + + + Genatlas + ABCD1 + + + HGNC + 61 + + + OMIM + 300371 + + + Reactome + P33897 + + + SwissProt + P33897 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 139399 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399 + Adrenomyeloneuropathy + + Clinical subtype + + + Subtype of disorder + + + + 20301491[PMID] + + ATP binding cassette subfamily D member 1 + ABCD1 + + ALDP + AMN + adrenoleukodystrophy + + + gene with protein product + + + + IUPHAR + 788 + + + ClinVar + ABCD1 + + + Ensembl + ENSG00000101986 + + + Genatlas + ABCD1 + + + HGNC + 61 + + + OMIM + 300371 + + + Reactome + P33897 + + + SwissProt + P33897 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 139406 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139406 + Encephalopathy due to prosaposin deficiency + + Disease + + + Disorder + + + + 1371116[PMID] + + prosaposin + PSAP + + variant Gaucher disease and variant metachromatic leukodystrophy + precursor of saposins + saposin-A + saposin-B + saposin-D + saposin-C + + + gene with protein product + + + + SwissProt + P07602 + + + Ensembl + ENSG00000197746 + + + Genatlas + PSAP + + + HGNC + 9498 + + + OMIM + 176801 + + + Reactome + P07602 + + + ClinVar + PSAP + + + + + 10q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 701 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=701 + Alopecia universalis + + Disease + + + Disorder + + + + 9445480[PMID] + + HR lysine demethylase and nuclear receptor corepressor + HR + + AU + + + gene with protein product + + + + Reactome + O43593 + + + Ensembl + ENSG00000168453 + + + Genatlas + HR + + + HGNC + 5172 + + + OMIM + 602302 + + + SwissProt + O43593 + + + ClinVar + HR + + + + + 8p21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1010 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1010 + Autosomal dominant palmoplantar keratoderma and congenital alopecia + + Disease + + + Disorder + + + + 25168385[PMID] + + gap junction protein alpha 1 + GJA1 + + CX43 + ODD + ODOD + SDTY3 + connexin 43 + oculodentodigital dysplasia (syndactyly type III) + + + gene with protein product + + + + ClinVar + GJA1 + + + Ensembl + ENSG00000152661 + + + Genatlas + GJA1 + + + HGNC + 4274 + + + OMIM + 121014 + + + Reactome + P17302 + + + SwissProt + P17302 + + + IUPHAR + 728 + + + + + 6q22.31 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 1001 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1001 + 2q37 microdeletion syndrome + + Malformation syndrome + + + Disorder + + + + 20691407[PMID]_23188045[PMID] + + histone deacetylase 4 + HDAC4 + + HA6116 + HD4 + HDAC-4 + HDAC-A + HDACA + KIAA0288 + + + gene with protein product + + + + Reactome + P56524 + + + SwissProt + P56524 + + + Ensembl + ENSG00000068024 + + + Genatlas + HDAC4 + + + HGNC + 14063 + + + IUPHAR + 2659 + + + OMIM + 605314 + + + ClinVar + HDAC4 + + + + + 2q37.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 59 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59 + Allan-Herndon-Dudley syndrome + + Disease + + + Disorder + + + + 20301789[PMID]_18398436[PMID] + + solute carrier family 16 member 2 + SLC16A2 + + MCT7 + MCT8 + XPCT + monocarboxylate transporter 8 + X-linked PEST-containing transporter + DXS128E + + + gene with protein product + + + + Reactome + P36021 + + + IUPHAR + 992 + + + ClinVar + SLC16A2 + + + Genatlas + SLC16A2 + + + HGNC + 10923 + + + OMIM + 300095 + + + SwissProt + P36021 + + + Ensembl + ENSG00000147100 + + + + + Xq13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 127 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=127 + Borjeson-Forssman-Lehmann syndrome + + Malformation syndrome + + + Disorder + + + + 12415272[PMID]_23229552[PMID] + + PHD finger protein 6 + PHF6 + + CENP-31 + KIAA1823 + MGC14797 + centromere protein 31 + + + gene with protein product + + + + ClinVar + PHF6 + + + Ensembl + ENSG00000156531 + + + Genatlas + PHF6 + + + HGNC + 18145 + + + OMIM + 300414 + + + SwissProt + Q8IWS0 + + + + + Xq26.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 1263 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1263 + Boomerang dysplasia + + Disease + + + Disorder + + + + 20301736[PMID]_15994868[PMID] + + filamin B + FLNB + + ABP-278 + FH1 + TABP + TAP + actin binding protein 278 + beta filamin + + + gene with protein product + + + + Ensembl + ENSG00000136068 + + + Genatlas + FLNB + + + HGNC + 3755 + + + OMIM + 603381 + + + Reactome + O75369 + + + SwissProt + O75369 + + + ClinVar + FLNB + + + + + 3p14.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1234 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234 + Bartsocas-Papas syndrome + + Malformation syndrome + + + Disorder + + + + 22197488[PMID]_22197489[PMID] + + receptor interacting serine/threonine kinase 4 + RIPK4 + + ANKK2 + DIK + PKC-delta-interacting protein kinase + PKK + RIP4 + protein kinase C-associated kinase + + + gene with protein product + + + + Reactome + P57078 + + + SwissProt + P57078 + + + Ensembl + ENSG00000183421 + + + Genatlas + RIPK4 + + + HGNC + 496 + + + IUPHAR + 2192 + + + OMIM + 605706 + + + ClinVar + RIPK4 + + + + + 21q22.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 1231 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1231 + Barber-Say syndrome + + Malformation syndrome + + + Disorder + + + + 26119818[PMID] + + twist family bHLH transcription factor 2 + TWIST2 + + DERMO1 + Dermo-1 + bHLHa39 + + + gene with protein product + + + + Ensembl + ENSG00000233608 + + + ClinVar + TWIST2 + + + Reactome + Q8WVJ9 + + + Genatlas + TWIST2 + + + HGNC + 20670 + + + OMIM + 607556 + + + SwissProt + Q8WVJ9 + + + + + 2q37.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1229 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1229 + Pseudo-TORCH syndrome type 1 + + Malformation syndrome + + + Disorder + + + + 20727516[PMID] + + occludin + OCLN + + PPP1R115 + phosphatase 1, regulatory subunit 115 + tight junction protein occludin TM4 minus + + + gene with protein product + + + + ClinVar + OCLN + + + Ensembl + ENSG00000197822 + + + Genatlas + OCLN + + + HGNC + 8104 + + + OMIM + 602876 + + + Reactome + Q16625 + + + SwissProt + Q16625 + + + + + 5q13.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 109 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109 + Bannayan-Riley-Ruvalcaba syndrome + + Clinical subtype + + + Subtype of disorder + + + + 20301661[PMID] + + phosphatase and tensin homolog + PTEN + + MMAC1 + PTEN1 + TEP1 + mutated in multiple advanced cancers 1 + Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN + + + gene with protein product + + + + IUPHAR + 2497 + + + ClinVar + PTEN + + + HGNC + 9588 + + + OMIM + 601728 + + + Reactome + P60484 + + + SwissProt + P60484 + + + Ensembl + ENSG00000171862 + + + Genatlas + PTEN + + + + + 10q23.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1239 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1239 + Behr syndrome + + Malformation syndrome + + + Disorder + + + + 35741767[PMID] + + OPA1 mitochondrial dynamin like GTPase + OPA1 + + Dynamin-like 120 kDa protein, mitochondrial + FLJ12460 + KIAA0567 + MGM1 + NPG + NTG + dynamin-like guanosine triphosphatase + mitochondrial dynamin-like GTPase + + + gene with protein product + + + + Reactome + O60313 + + + Ensembl + ENSG00000198836 + + + Genatlas + OPA1 + + + HGNC + 8140 + + + OMIM + 605290 + + + SwissProt + O60313 + + + ClinVar + OPA1 + + + + + 3q29 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 115 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=115 + Congenital contractural arachnodactyly + + Malformation syndrome + + + Disorder + + + + 20301560[PMID] + + fibrillin 2 + FBN2 + + DA9 + fibrillin 5 + + + gene with protein product + + + + ClinVar + FBN2 + + + Ensembl + ENSG00000138829 + + + Genatlas + FBN2 + + + HGNC + 3604 + + + OMIM + 612570 + + + Reactome + P35556 + + + SwissProt + P35556 + + + + + 5q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 137625 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137625 + Glycogen storage disease due to muscle and heart glycogen synthase deficiency + + Disease + + + Disorder + + + + + + glycogen synthase 1 + GYS1 + + GSY + + + gene with protein product + + + + HGNC + 4706 + + + OMIM + 138570 + + + Reactome + P13807 + + + SwissProt + P13807 + + + Ensembl + ENSG00000104812 + + + Genatlas + GYS1 + + + ClinVar + GYS1 + + + + + 19q13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 137608 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137608 + Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome + + Clinical subtype + + + Subtype of disorder + + + + 17392703[PMID] + + phosphatase and tensin homolog + PTEN + + MMAC1 + PTEN1 + TEP1 + mutated in multiple advanced cancers 1 + Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN + + + gene with protein product + + + + IUPHAR + 2497 + + + ClinVar + PTEN + + + HGNC + 9588 + + + OMIM + 601728 + + + Reactome + P60484 + + + SwissProt + P60484 + + + Ensembl + ENSG00000171862 + + + Genatlas + PTEN + + + + + 10q23.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1299 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1299 + Branchioskeletogenital syndrome + + Malformation syndrome + + + Disorder + + + + 28988429[PMID]_29271567[PMID] + + cadherin 11 + CDH11 + + CAD11 + OB + OB-Cadherin + + + gene with protein product + + + + SwissProt + P55287 + + + HGNC + 1750 + + + Ensembl + ENSG00000140937 + + + OMIM + 600023 + + + Genatlas + CDH11 + + + Reactome + P55287 + + + ClinVar + CDH11 + + + + + 16q21 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 1300 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1300 + Autosomal dominant popliteal pterygium syndrome + + Malformation syndrome + + + Disorder + + + + 20301581[PMID] + + interferon regulatory factor 6 + IRF6 + + OFC6 + VWS1 + + + gene with protein product + + + + ClinVar + IRF6 + + + Ensembl + ENSG00000117595 + + + Genatlas + IRF6 + + + HGNC + 6121 + + + OMIM + 607199 + + + Reactome + O14896 + + + SwissProt + O14896 + + + + + 1q32.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 137634 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137634 + Overgrowth-macrocephaly-facial dysmorphism syndrome + + Malformation syndrome + + + Disorder + + + + 17632510[PMID] + + ring finger protein 135 + RNF135 + + MGC13061 + riplet + + + gene with protein product + + + + Ensembl + ENSG00000181481 + + + Genatlas + RNF135 + + + HGNC + 21158 + + + OMIM + 611358 + + + Reactome + Q8IUD6 + + + SwissProt + Q8IUD6 + + + ClinVar + RNF135 + + + + + 17q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1297 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297 + Branchio-oculo-facial syndrome + + Malformation syndrome + + + Disorder + + + + 21634087[PMID]_18423521[PMID] + + transcription factor AP-2 alpha + TFAP2A + + AP-2 + AP-2alpha + + + gene with protein product + + + + ClinVar + TFAP2A + + + Reactome + P05549 + + + Ensembl + ENSG00000137203 + + + Genatlas + TFAP2A + + + HGNC + 11742 + + + OMIM + 107580 + + + SwissProt + P05549 + + + + + 6p24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 137639 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137639 + Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome + + Clinical subtype + + + Subtype of disorder + + + + 27506977[PMID] + + RNA polymerase III subunit A + POLR3A + + RPC1 + RPC155 + hRPC155 + C160 + + + gene with protein product + + + + ClinVar + POLR3A + + + Ensembl + ENSG00000148606 + + + Genatlas + POLR3A + + + HGNC + 30074 + + + OMIM + 614258 + + + Reactome + O14802 + + + SwissProt + O14802 + + + + + 10q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1276 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1276 + Brachydactyly-arterial hypertension syndrome + + Malformation syndrome + + + Disorder + + + + 25961942[PMID] + + phosphodiesterase 3A + PDE3A + + CGI-PDE + cGMP-inhibited 3',5'-cyclic phosphodiesterase A + + + gene with protein product + + + + Ensembl + ENSG00000172572 + + + Genatlas + PDE3A + + + HGNC + 8778 + + + IUPHAR + 1298 + + + OMIM + 123805 + + + Reactome + Q14432 + + + SwissProt + Q14432 + + + ClinVar + PDE3A + + + + + 12p12.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 1275 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1275 + Brachydactyly-elbow wrist dysplasia syndrome + + Malformation syndrome + + + Disorder + + + + 30711920[PMID] + + macroH2A.1 histone + MACROH2A1 + + macroH2A1.2 + + + gene with protein product + + + + HGNC + 4740 + + + Ensembl + ENSG00000113648 + + + SwissProt + O75367 + + + Reactome + O75367 + + + OMIM + 610054 + + + + + 5q31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23022097[PMID] + + paired like homeodomain 1 + PITX1 + + POTX + PTX1 + + + gene with protein product + + + + Reactome + P78337 + + + Ensembl + ENSG00000069011 + + + Genatlas + PITX1 + + + HGNC + 9004 + + + OMIM + 602149 + + + SwissProt + P78337 + + + ClinVar + PITX1 + + + + + 5q31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1270 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1270 + Bowen-Conradi syndrome + + Malformation syndrome + + + Disorder + + + + 19463982[PMID] + + EMG1 N1-specific pseudouridine methyltransferase + EMG1 + + C2F + Grcc2f + NEP1 + + + gene with protein product + + + + Reactome + Q92979 + + + Ensembl + ENSG00000126749 + + + Genatlas + EMG1 + + + HGNC + 16912 + + + OMIM + 611531 + + + SwissProt + Q92979 + + + ClinVar + EMG1 + + + + + 12p13.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 137605 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137605 + Legius syndrome + + Malformation syndrome + + + Disorder + + + + 20945555[PMID] + + sprouty related EVH1 domain containing 1 + SPRED1 + + FLJ33903 + PPP1R147 + protein phosphatase 1, regulatory subunit 147 + SPRED-1 + + + gene with protein product + + + + Ensembl + ENSG00000166068 + + + Genatlas + SPRED1 + + + HGNC + 20249 + + + OMIM + 609291 + + + Reactome + Q7Z699 + + + SwissProt + Q7Z699 + + + ClinVar + SPRED1 + + + + + 15q14 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1168 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1168 + Ataxia-oculomotor apraxia type 1 + + Disease + + + Disorder + + + + 20301629[PMID] + + aprataxin + APTX + + FLJ20157 + AOA + AOA1 + EAOH + EOAHA + + + gene with protein product + + + + ClinVar + APTX + + + Reactome + Q7Z2E3 + + + Ensembl + ENSG00000137074 + + + Genatlas + APTX + + + HGNC + 15984 + + + OMIM + 606350 + + + SwissProt 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+ Reactome + O60890 + + + SwissProt + O60890 + + + + + Xq12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1170 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1170 + Autosomal recessive cerebelloparenchymal disorder type 3 + + Disease + + + Disorder + + + + 25808372[PMID] + + peptidase, mitochondrial processing subunit alpha + PMPCA + + Alpha-MPP + KIAA0123 + MAS2 + + + gene with protein product + + + + Ensembl + ENSG00000165688 + + + Genatlas + PMPCA + + + HGNC + 18667 + + + OMIM + 613036 + + + Reactome + Q10713 + + + SwissProt + Q10713 + + + ClinVar + PMPCA + + + + + 9q34.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1175 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1175 + X-linked progressive cerebellar ataxia + + Disease + + + Disorder + + + + 23773993[PMID] + + gap junction protein beta 1 + GJB1 + + CX32 + Charcot-Marie-Tooth neuropathy, X-linked + connexin 32 + + + gene with protein product + + + + IUPHAR + 723 + + + ClinVar + GJB1 + + + Ensembl + ENSG00000169562 + + + Genatlas + GJB1 + + + HGNC + 4283 + + + OMIM + 304040 + + + Reactome + P08034 + + + SwissProt + P08034 + + + + + Xq13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1180 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1180 + Ataxia-hypogonadism-choroidal dystrophy syndrome + + Disease + + + Disorder + + + + 24355708[PMID] + + patatin like domain 6, lysophospholipase + PNPLA6 + + NTE + SPG39 + SWS + iPLA2delta + neuropathy target esterase + sws + + + gene with protein product + + + + ClinVar + PNPLA6 + + + Reactome + Q8IY17 + + + Genatlas + PNPLA6 + + + HGNC + 16268 + + + OMIM + 603197 + + + SwissProt + Q8IY17 + + + Ensembl + ENSG00000032444 + + + + + 19p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1173 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1173 + Cerebellar ataxia-hypogonadism syndrome + + Disease + + + Disorder + + + + 24355708[PMID] + + patatin like domain 6, lysophospholipase + PNPLA6 + + NTE + SPG39 + SWS + iPLA2delta + neuropathy target esterase + sws + + + gene with protein product + + + + ClinVar + PNPLA6 + + + Reactome + Q8IY17 + + + Genatlas + PNPLA6 + + + HGNC + 16268 + + + OMIM + 603197 + + + SwissProt + Q8IY17 + + + Ensembl + ENSG00000032444 + + + + + 19p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23656588[PMID] + + ring finger protein 216 + RNF216 + + TRIAD3 + UBCE7IP1 + ZIN + + + gene with protein product + + + + Ensembl + ENSG00000011275 + + + Genatlas + RNF216 + + + HGNC + 21698 + + + OMIM + 609948 + + + Reactome + Q9NWF9 + + + SwissProt + Q9NWF9 + + + ClinVar + RNF216 + + + + + 7p22.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 137681 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137681 + Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 + + Disease + + + Disorder + + + + 23430926[PMID] + + G elongation factor mitochondrial 1 + GFM1 + + mtEF-G1 + EFGM + EGF1 + GFM + + + gene with protein product + + + + Ensembl + ENSG00000168827 + + + Genatlas + GFM1 + + + HGNC + 13780 + + + OMIM + 606639 + + + Reactome + Q96RP9 + + + SwissProt + Q96RP9 + + + ClinVar + GFM1 + + + + + 3q25.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 137675 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137675 + Histiocytoid cardiomyopathy + + Disease + + + Disorder + + + + 10960495[PMID] + + mitochondrially encoded cytochrome b + MT-CYB + + COB + CYTB + UQCR3 + + + gene with protein product + + + + ClinVar + MT-CYB + + + Ensembl + ENSG00000198727 + + + Genatlas + MT-CYB + + + HGNC + 7427 + + + OMIM + 516020 + + + Reactome + P00156 + + + SwissProt + P00156 + + + + + mitochondria + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 137678 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137678 + Spondyloepiphyseal dysplasia with metatarsal shortening + + Disease + + + Disorder + + + + 17726487[PMID] + + collagen type II alpha 1 chain + COL2A1 + + STL1 + + + gene with protein product + + + + ClinVar + COL2A1 + + + Ensembl + ENSG00000139219 + + + Genatlas + COL2A1 + + + HGNC + 2200 + + + OMIM + 120140 + + + Reactome + P02458 + + + SwissProt + P02458 + + + + + 12q13.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 137754 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137754 + Aminoacylase 1 deficiency + + Disease + + + Disorder + + + + 16465618[PMID] + + aminoacylase 1 + ACY1 + + + + gene with protein product + + + + ClinVar + ACY1 + + + Ensembl + ENSG00000243989 + + + Genatlas + ACY1 + + + HGNC + 177 + + + OMIM + 104620 + + + Reactome + Q03154 + + + SwissProt + Q03154 + + + + + 3p21.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 1145 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1145 + Infantile-onset X-linked spinal muscular atrophy + + Disease + + + Disorder + + + + 18179898[PMID] + + ubiquitin like modifier activating enzyme 1 + UBA1 + + CFAP124 + POC20 + POC20 centriolar protein homolog (Chlamydomonas) + UBA1, ubiquitin-activating enzyme E1 homolog (yeast) + UBE1X + + + gene with protein product + + + + Ensembl + ENSG00000130985 + + + Genatlas + UBA1 + + + HGNC + 12469 + + + OMIM + 314370 + + + Reactome + P22314 + + + SwissProt + P22314 + + + ClinVar + UBA1 + + + + + Xp11.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 137776 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137776 + Lethal congenital contracture syndrome type 2 + + Malformation syndrome + + + Disorder + + + + 17701904[PMID] + + erb-b2 receptor tyrosine kinase 3 + ERBB3 + + HER3 + human epidermal growth factor receptor 3 + + + gene with protein product + + + + IUPHAR + 1798 + + + OMIM + 190151 + + + Reactome + P21860 + + + SwissProt + P21860 + + + ClinVar + ERBB3 + + + Ensembl + ENSG00000065361 + + + Genatlas + ERBB3 + + + HGNC + 3431 + + + + + 12q13.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 1149 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1149 + Kuskokwim syndrome + + Malformation syndrome + + + Disorder + + + + 23712425[PMID] + + FKBP prolyl isomerase 10 + FKBP10 + + FKBP6 + FLJ20683 + FLJ22041 + FLJ23833 + hFKBP65 + FKBP65 + + + gene with protein product + + + + OMIM + 607063 + + + SwissProt + Q96AY3 + + + Ensembl + ENSG00000141756 + + + Genatlas + FKBP10 + + + HGNC + 18169 + + + ClinVar + FKBP10 + + + + + 17q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1159 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1159 + Progressive pseudorheumatoid dysplasia + + Disease + + + Disorder + + + + 10471507[PMID]_22987568[PMID] + + cellular communication network factor 6 + CCN6 + + CCN6 + WISP-3 + + + gene with protein product + + + + ClinVar + WISP3 + + + Ensembl + ENSG00000112761 + + + Genatlas + WISP3 + + + HGNC + 12771 + + + OMIM + 603400 + + + SwissProt + O95389 + + + + + 6q21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 137783 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137783 + Lethal congenital contracture syndrome type 3 + + Malformation syndrome + + + Disorder + + + + 17701898[PMID] + + phosphatidylinositol-4-phosphate 5-kinase type 1 gamma + PIP5K1C + + KIAA0589 + LCCS3 + PIP5Kgamma + + + gene with protein product + + + + ClinVar + PIP5K1C + + + Ensembl + ENSG00000186111 + + + Genatlas + PIP5K1C + + + HGNC + 8996 + + + IUPHAR + 2165 + + + OMIM + 606102 + + + Reactome + O60331 + + + SwissProt + O60331 + + + + + 19p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22610851[PMID] + + myosin binding protein C1 + MYBPC1 + + slow skeletal-type muscle myosin-binding-protein C + ssMyBP-C + + + gene with protein product + + + + SwissProt + Q00872 + + + Ensembl + ENSG00000196091 + + + Genatlas + MYBPC1 + + + HGNC + 7549 + + + OMIM + 160794 + + + Reactome + Q00872 + + + ClinVar + MYBPC1 + + + + + 12q23.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1215 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1215 + Autosomal dominant optic atrophy plus syndrome + + Disease + + + Disorder + + + + 18158317[PMID]_22776096[PMID] + + OPA1 mitochondrial dynamin like GTPase + OPA1 + + Dynamin-like 120 kDa protein, mitochondrial + FLJ12460 + KIAA0567 + MGM1 + NPG + NTG + dynamin-like guanosine triphosphatase + mitochondrial dynamin-like GTPase + + + gene with protein product + + + + Reactome + O60313 + + + Ensembl + ENSG00000198836 + + + Genatlas + OPA1 + + + HGNC + 8140 + + + OMIM + 605290 + + + SwissProt + O60313 + + + ClinVar + OPA1 + + + + + 3q29 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1216 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1216 + Autosomal dominant congenital benign spinal muscular atrophy + + Disease + + + Disorder + + + + 24830047[PMID]_22526352[PMID] + + transient receptor potential cation channel subfamily V member 4 + TRPV4 + + CMT2C + OTRPC4 + TRP12 + VR-OAC + VRL-2 + VROAC + osmosensitive transient receptor potential channel 4 + + + gene with protein product + + + + Ensembl + ENSG00000111199 + + + Genatlas + TRPV4 + + + HGNC + 18083 + + + IUPHAR + 510 + + + OMIM + 605427 + + + Reactome + Q9HBA0 + + + SwissProt + Q9HBA0 + + + ClinVar + TRPV4 + + + + + 12q24.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1225 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1225 + Baller-Gerold syndrome + + Malformation syndrome + + + Disorder + + + + 20301383[PMID]_15964893[PMID] + + RecQ like helicase 4 + RECQL4 + + RecQ4 + + + gene with protein product + + + + HGNC + 9949 + + + OMIM + 603780 + + + SwissProt + O94761 + + + ClinVar + RECQL4 + + + Ensembl + ENSG00000160957 + + + Genatlas + RECQL4 + + + + + 8q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1226 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1226 + Bamforth-Lazarus syndrome + + Malformation syndrome + + + Disorder + + + + 9697705[PMID]_12165566[PMID]_25905381[PMID] + + forkhead box E1 + FOXE1 + + HFKH4 + TTF-2 + thyroid transcription factor 2 + + + gene with protein product + + + + Ensembl + ENSG00000178919 + + + Genatlas + FOXE1 + + + HGNC + 3806 + + + OMIM + 602617 + + + SwissProt + O00358 + + + ClinVar + FOXE1 + + + + + 9q22.33 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 137888 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137888 + Auriculocondylar syndrome + + Malformation syndrome + + + Disorder + + + + 22560091[PMID] + + G protein subunit alpha i3 + GNAI3 + + 87U6 + Guanine nucleotide-binding protein G(k) subunit alpha + + + gene with protein product + + + + ClinVar + GNAI3 + + + Ensembl + ENSG00000065135 + + + Genatlas + GNAI3 + + + HGNC + 4387 + + + OMIM + 139370 + + + Reactome + P08754 + + + SwissProt + P08754 + + + + + 1p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22560091[PMID] + + phospholipase C beta 4 + PLCB4 + + + + gene with protein product + + + + IUPHAR + 1406 + + + ClinVar + PLCB4 + + + Ensembl + ENSG00000101333 + + + Genatlas + PLCB4 + + + HGNC + 9059 + + + OMIM + 600810 + + + Reactome + Q15147 + + + SwissProt + Q15147 + + + + + 20p12.3-p12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24268655[PMID] + + endothelin 1 + EDN1 + + ET1 + + + gene with protein product + + + + ClinVar + EDN1 + + + Ensembl + ENSG00000078401 + + + Genatlas + EDN1 + + + HGNC + 3176 + + + OMIM + 131240 + + + Reactome + P05305 + + + SwissProt + P05305 + + + + + 6p24.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 137893 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137893 + Male infertility due to large-headed multiflagellar polyploid spermatozoa + + Clinical subtype + + + Subtype of disorder + + + + 17435757[PMID]_21733974[PMID] + + aurora kinase C + AURKC + + ARK3 + AurC + + + gene with protein product + + + + Reactome + Q9UQB9 + + + ClinVar + AURKC + + + Ensembl + ENSG00000105146 + + + Genatlas + AURKC + + + HGNC + 11391 + + + IUPHAR + 1938 + + + OMIM + 603495 + + + SwissProt + Q9UQB9 + + + + + 19q13.43 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 34932939[PMID] + + dynein heavy chain domain 1 + DNHD1 + + DKFZp686J0796 + FLJ32752 + FLJ35709 + FLJ46184 + + + gene with protein product + + + + HGNC + 26532 + + + Ensembl + ENSG00000179532 + + + OMIM + 617277 + + + SwissProt + Q96M86 + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 33472045[PMID] + + cilia and flagella associated protein 47 + CFAP47 + + MGC34831 + RP13-11B7.1 + FLJ36601 + + + gene with protein product + + + + HGNC + 26708 + + + OMIM + 301057 + + + SwissProt + Q6ZTR5 + + + Ensembl + ENSG00000165164 + + + + + Xp21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 34237282[PMID] + + dynein axonemal heavy chain 10 + DNAH10 + + FLJ43808 + + + gene with protein product + + + + Genatlas + DNAH10 + + + OMIM + 605884 + + + SwissProt + Q8IVF4 + + + Ensembl + ENSG00000197653 + + + HGNC + 2941 + + + ClinVar + DNAH10 + + + + + 12q24.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 35228300[PMID] + + A-kinase anchoring protein 3 + AKAP3 + + AKAP110 + CT82 + cancer/testis antigen 82 + SOB1 + Fibrous Sheath Protein of 95 kDa + FSP95 + + + gene with protein product + + + + HGNC + 373 + + + Ensembl + ENSG00000111254 + + + OMIM + 604689 + + + SwissProt + O75969 + + + + + 12p13.32 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 35387802[PMID] + + cilia and flagella associated protein 61 + CFAP61 + + DKFZP434K156 + dJ1002M8.3 + CaM-IP3 + hypothetical protein LOC26074 + + + gene with protein product + + + + HGNC + 15872 + + + Ensembl + ENSG00000089101 + + + OMIM + 620381 + + + SwissProt + Q8NHU2 + + + + + 20p11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 35534203[PMID] + + armadillo repeat containing 12 + ARMC12 + + FLJ25390 + + + gene with protein product + + + + HGNC + 21099 + + + Ensembl + ENSG00000157343 + + + OMIM + 620377 + + + SwissProt + Q5T9G4 + + + + + 6p21.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 33689014[PMID] + + intraflagellar transport 74 + IFT74 + + capillary morphogenesis protein 1 + CMG1 + CMG-1 + FLJ22621 + + + gene with protein product + + + + HGNC + 21424 + + + Reactome + Q96LB3 + + + Genatlas + IFT74 + + + Ensembl + ENSG00000096872 + + + ClinVar + IFT74 + + + OMIM + 608040 + + + SwissProt + Q96LB3 + + + + + 9p21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1186 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1186 + Infantile-onset spinocerebellar ataxia + + Disease + + + Disorder + + + + 20301746[PMID] + + twinkle mtDNA helicase + TWNK + + FLJ21832 + PEO + PEO1 + T7 helicase-related protein with intramitochondrial nucleoid localization + TWINKLE + TWINL + + + gene with protein product + + + + Ensembl + ENSG00000107815 + + + Genatlas + C10orf2 + + + HGNC + 1160 + + + OMIM + 606075 + + + Reactome + Q96RR1 + + + SwissProt + Q96RR1 + + + ClinVar + C10orf2 + + + + + 10q24.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 137898 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137898 + Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome + + Disease + + + Disorder + + + + 17384640[PMID] + + aspartyl-tRNA synthetase 2, mitochondrial + DARS2 + + Aspartate tRNA ligase 2, mitochondrial + FLJ10514 + mtAspRS + aspartate tRNA ligase 2, mitochondrial + + + gene with protein product + + + + ClinVar + DARS2 + + + Ensembl + ENSG00000117593 + + + Genatlas + DARS2 + + + HGNC + 25538 + + + OMIM + 610956 + + + Reactome + Q6PI48 + + + SwissProt + Q6PI48 + + + + + 1q25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1187 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1187 + Lethal ataxia with deafness and optic atrophy + + Disease + + + Disorder + + + + 20301738[PMID] + + phosphoribosyl pyrophosphate synthetase 1 + PRPS1 + + PRS I + ribose-phosphate diphosphokinase 1 + CMTX5 + DFNX1 + PRS-I + PPRibP + + + gene with protein product + + + + ClinVar + PRPS1 + + + Ensembl + ENSG00000147224 + + + Genatlas + PRPS1 + + + HGNC + 9462 + + + OMIM + 311850 + + + Reactome + P60891 + + + SwissProt + P60891 + + + + + Xq22.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 1190 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1190 + Atelosteogenesis type I + + Malformation syndrome + + + Disorder + + + + 20301736[PMID] + + filamin B + FLNB + + ABP-278 + FH1 + TABP + TAP + actin binding protein 278 + beta filamin + + + gene with protein product + + + + Ensembl + ENSG00000136068 + + + Genatlas + FLNB + + + HGNC + 3755 + + + OMIM + 603381 + + + Reactome + O75369 + + + SwissProt + O75369 + + + ClinVar + FLNB + + + + + 3p14.3 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 137908 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137908 + Hypotonia with lactic acidemia and hyperammonemia + + Disease + + + Disorder + + + + 17873122[PMID] + + mitochondrial ribosomal protein S22 + MRPS22 + + GIBT + GK002 + MRP-S22 + mS22 + C3orf5 + + + gene with protein product + + + + Ensembl + ENSG00000175110 + + + Genatlas + MRPS22 + + + HGNC + 14508 + + + OMIM + 605810 + + + Reactome + P82650 + + + ClinVar + MRPS22 + + + SwissProt + P82650 + + + + + 3q23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1200 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1200 + Burn-McKeown syndrome + + Malformation syndrome + + + Disorder + + + + 25913037[PMID] + + RNA polymerase I subunit A + POLR1A + + DKFZP586M0122 + FLJ21915 + RPA1 + RPA190 + RPO1-4 + + + gene with protein product + + + + HGNC + 17264 + + + ClinVar + POLR1A + + + SwissProt + O95602 + + + Reactome + O95602 + + + Ensembl + ENSG00000068654 + + + OMIM + 616404 + + + Genatlas + POLR1A + + + + + 2p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 25434003[PMID] + + thioredoxin like 4A + TXNL4A + + DIB1 + DIM1 + HsT161 + SNRNP15 + U5-15kD + similar to S. pombe dim1+ 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1458 + CODAS syndrome + + Malformation syndrome + + + Disorder + + + + 25574826[PMID] + + lon peptidase 1, mitochondrial + LONP1 + + LonHS + PIM1 + hLON + Mitochondrial ATP-dependent protease Lon + + + gene with protein product + + + + IUPHAR + 3180 + + + ClinVar + LONP1 + + + Genatlas + LONP1 + + + HGNC + 9479 + + + OMIM + 605490 + + + SwissProt + P36776 + + + Ensembl + ENSG00000196365 + + + + + 19p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1454 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454 + Joubert syndrome with hepatic defect + + Disease + + + Disorder + + + + 19574260[PMID]_17160906[PMID]_20615230[PMID]_20301500[PMID] + + transmembrane protein 67 + TMEM67 + + NPHP11 + JBTS6 + MGC26979 + Meckelin + + + gene with protein product + + + + ClinVar + TMEM67 + + + Ensembl + ENSG00000164953 + + + Genatlas + TMEM67 + + + HGNC + 28396 + + + OMIM + 609884 + + + Reactome + Q5HYA8 + + + SwissProt + Q5HYA8 + + + + + 8q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 19574260[PMID]_20301500[PMID] + + RPGRIP1 like + RPGRIP1L + + CORS3 + FTM + JBTS7 + KIAA1005 + MKS5 + Meckel syndrome, type 5 + NPHP8 + PPP1R134 + fantom homolog + protein phosphatase 1, regulatory subunit 134 + + + gene with protein product + + + + ClinVar + RPGRIP1L + + + Ensembl + ENSG00000103494 + + + Genatlas + RPGRIP1L + + + HGNC + 29168 + + + OMIM + 610937 + + + Reactome + Q68CZ1 + + + SwissProt + Q68CZ1 + + + + + 16q12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 19574260[PMID]_20301500[PMID] + + coiled-coil and C2 domain containing 2A + CC2D2A + + JBTS9 + KIAA1345 + MKS6 + Meckel syndrome, type 6 + + + gene with protein product + + + + ClinVar + CC2D2A + + + Reactome + Q9P2K1 + + + SwissProt + Q9P2K1 + + + Ensembl + ENSG00000048342 + + + Genatlas + CC2D2A + + + HGNC + 29253 + + + OMIM + 612013 + + + + + 4p15.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301500[PMID]_19668216[PMID] + + inositol polyphosphate-5-phosphatase E + INPP5E + + CORS1 + PPI5PIV + pharbin + Phosphatidylinositol polyphosphate 5-phosphatase type IV + + + gene with protein product + + + + Ensembl + ENSG00000148384 + + + Genatlas + INPP5E + + + HGNC + 21474 + + + OMIM + 613037 + + + Reactome + Q9NRR6 + + + SwissProt + Q9NRR6 + + + ClinVar + INPP5E + + + IUPHAR + 1456 + + + + + 9q34.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 190 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=190 + Coats disease + + Disease + + + Disorder + + + + 20301506[PMID]_10484772[PMID] + + norrin cystine knot growth factor NDP + NDP + + norrin + + + gene with protein product + + + + Reactome + Q00604 + + + ClinVar + NDP + + + Ensembl + ENSG00000124479 + + + Genatlas + NDP + + + HGNC + 7678 + + + OMIM + 300658 + + + SwissProt + Q00604 + + + + + Xp11.3 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 1429 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1429 + Benign hereditary chorea + + Disease + + + Disorder + + + + 12891678[PMID]_16220345[PMID]_24555207[PMID] + + NK2 homeobox 1 + NKX2-1 + + TTF-1 + TTF1 + + + gene with protein product + + + + ClinVar + NKX2-1 + + + Reactome + P43699 + + + Ensembl + ENSG00000136352 + + + Genatlas + NKX2-1 + + + HGNC + 11825 + + + OMIM + 600635 + + + SwissProt + P43699 + + + + + 14q13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26085604[PMID] + + adenylate cyclase 5 + ADCY5 + + AC5 + + + gene with protein product + + + + IUPHAR + 1282 + + + Ensembl + ENSG00000173175 + + + Genatlas + ADCY5 + + + HGNC + 236 + + + OMIM + 600293 + + + Reactome + O95622 + + + SwissProt + O95622 + + + ClinVar + ADCY5 + + + + + 3q21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1426 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1426 + Greenberg dysplasia + + Disease + + + Disorder + + + + 21327084[PMID] + + lamin B receptor + LBR + + DHCR14B + TDRD18 + tudor domain containing 18 + + + gene with protein product + + + + ClinVar + LBR + + + OMIM + 600024 + + + Reactome + Q14739 + + + SwissProt + Q14739 + + + Ensembl + ENSG00000143815 + + + Genatlas + LBR + + + HGNC + 6518 + + + + + 1q42.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1427 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1427 + Autosomal recessive otospondylomegaepiphyseal dysplasia + + Disease + + + Disorder + + + + 10677296[PMID]_21438135[PMID] + + collagen type XI alpha 2 chain + COL11A2 + + HKE5 + + + gene with protein product + + + + ClinVar + COL11A2 + + + Ensembl + ENSG00000204248 + + + Genatlas + COL11A2 + + + HGNC + 2187 + + + OMIM + 120290 + + + Reactome + P13942 + + + SwissProt + P13942 + + + + + 6p21.32 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 1435 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1435 + Xq21 microdeletion syndrome + + Malformation syndrome + + + Disorder + + + + 17935254[PMID] + + POU class 3 homeobox 4 + POU3F4 + + BRN4 + DFNX2 + OTF9 + brain-4 + Octamer-binding transcription factor 9 + + + gene with protein product + + + + ClinVar + POU3F4 + + + Ensembl + ENSG00000196767 + + + Genatlas + POU3F4 + + + HGNC + 9217 + + + OMIM + 300039 + + + SwissProt + P49335 + + + + + Xq21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 155878 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155878 + Submucosal cleft palate + + Morphological anomaly + + + Disorder + + + + 27018472[PMID]_27018475[PMID] + + grainyhead like transcription factor 3 + GRHL3 + + SOM + sister-of-mammalian grainyhead + + + gene with protein product + + + + Reactome + Q8TE85 + + + Ensembl + ENSG00000158055 + + + Genatlas + GRHL3 + + + HGNC + 25839 + + + OMIM + 608317 + + + SwissProt + Q8TE85 + + + ClinVar + GRHL3 + + + + + 1p36.11 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 17468296[PMID] + + ubiquitin B + UBB + + FLJ25987 + MGC8385 + polyubiquitin B + + + gene with protein product + + + + OMIM + 191339 + + + Ensembl + ENSG00000170315 + + + HGNC + 12463 + + + Genatlas + UBB + + + SwissProt + P0CG47 + + + Reactome + P0CG47 + + + ClinVar + UBB + + + + + 17p11.2 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 1490 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1490 + Corneal dystrophy-perceptive deafness syndrome + + Malformation syndrome + + + Disorder + + + + 17220209[PMID]_18922146[PMID] + + solute carrier family 4 member 11 + SLC4A11 + + NaBC1 + dJ794I6.2 + BTR1 + FECD4 + sodium-coupled borate cotransporter 1 + bicarbonate transporter related protein 1 + + + gene with protein product + + + + Ensembl + ENSG00000088836 + + + Genatlas + SLC4A11 + + + HGNC + 16438 + + + OMIM + 610206 + + + SwissProt + Q8NBS3 + + + IUPHAR + 913 + + + ClinVar + SLC4A11 + + + + + 20p13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1486 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1486 + Lethal congenital contracture syndrome type 1 + + Malformation syndrome + + + Disorder + + + + 18204449[PMID] + + GLE1 RNA export mediator + GLE1 + + hGLE1 + + + gene with protein product + + + + Ensembl + ENSG00000119392 + + + Genatlas + GLE1 + + + HGNC + 4315 + + + OMIM + 603371 + + + SwissProt + Q53GS7 + + + Reactome + Q53GS7 + + + ClinVar + GLE1 + + + + + 9q34.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 141276 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141276 + Tessier number 7 facial cleft + + Morphological anomaly + + + Disorder + + + + 19208383[PMID] + + patched 2 + PTCH2 + + SLC65B2 + + + gene with protein product + + + + ClinVar + PTCH2 + + + Ensembl + ENSG00000117425 + + + Genatlas + PTCH2 + + + HGNC + 9586 + + + OMIM + 603673 + + + Reactome + Q9Y6C5 + + + SwissProt + Q9Y6C5 + + + + + 1p34.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21703590[PMID] + + sperm antigen with calponin homology and coiled-coil domains 1 like + SPECC1L + + CYTSA + KIAA0376 + cytokinesis and spindle organization A + + + gene with protein product + + + + Reactome + Q69YQ0 + + + Ensembl + ENSG00000100014 + + + Genatlas + SPECC1L + + + HGNC + 29022 + + + OMIM + 614140 + + + SwissProt + Q69YQ0 + + + ClinVar + SPECC1L + + + + + 22q11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1466 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466 + COFS syndrome + + Clinical subtype + + + Subtype of disorder + + + + 11443545[PMID] + + ERCC excision repair 2, TFIIH core complex helicase subunit + ERCC2 + + EM9 + MAG + MGC102762 + MGC126218 + MGC126219 + TFIIH + TFIIH basal transcription factor complex helicase XPB subunit + excision repair cross-complementing rodent repair deficiency, complementation group 2 protein + + + gene with protein product + + + + ClinVar + ERCC2 + + + Ensembl + ENSG00000104884 + + + Genatlas + ERCC2 + + + HGNC + 3434 + + + OMIM + 126340 + + + Reactome + P18074 + + + SwissProt + P18074 + + + + + 19q13.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301516[PMID] + + ERCC excision repair 6, chromatin remodeling factor + ERCC6 + + ARMD5 + CSB + Cockayne syndrome B protein + RAD26 + + + gene with protein product + + + + ClinVar + ERCC6 + + + Ensembl + ENSG00000225830 + + + Genatlas + ERCC6 + + + HGNC + 3438 + + + OMIM + 609413 + + + Reactome + Q03468 + + + SwissProt + Q03468 + + + + + 10q11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24700531[PMID] + + ERCC excision repair 5, endonuclease + ERCC5 + + Cockayne syndrome + + 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Ensembl + ENSG00000163132 + + + Genatlas + MSX1 + + + + + 4p16.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 16740912[PMID]_21567929[PMID] + + tumor protein p63 + TP63 + + NBP + OFC8 + SHFM4 + p51 + p53CP + p63 + p73H + p73L + p40 + EEC3 + KET + + + gene with protein product + + + + Ensembl + ENSG00000073282 + + + Genatlas + TP63 + + + HGNC + 15979 + + + OMIM + 603273 + + + Reactome + Q9H3D4 + + + SwissProt + Q9H3D4 + + + ClinVar + TP63 + + + + + 3q28 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 17438386[PMID] + + interferon regulatory factor 6 + IRF6 + + OFC6 + VWS1 + + + gene with protein product + + + + ClinVar + IRF6 + + + Ensembl + ENSG00000117595 + + + Genatlas + IRF6 + + + HGNC + 6121 + + + OMIM + 607199 + + + Reactome + O14896 + + + SwissProt + O14896 + + + + + 1q32.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 16674562[PMID] + + nectin cell adhesion molecule 1 + NECTIN1 + + Nectin-1 + CLPED1 + HIgR + OFC7 + PRR + PRR1 + PVRR1 + SK-12 + nectin + CD111 + + + gene with protein product + + + + ClinVar + NECTIN1 + + + Ensembl + ENSG00000110400 + + + Genatlas + PVRL1 + + + HGNC + 9706 + + + OMIM + 600644 + + + Reactome + Q15223 + + + SwissProt + Q15223 + + + + + 11q23.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 1410 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1410 + Uncombable hair syndrome + + Disease + + + Disorder + + + + 27866708[PMID] + + peptidyl arginine deiminase 3 + PADI3 + + PDI3 + + + gene with protein product + + + + HGNC + 18337 + + + OMIM + 606755 + + + Genatlas + PADI3 + + + SwissProt + Q9ULW8 + + + Reactome + Q9ULW8 + + + Ensembl + ENSG00000142619 + + + IUPHAR + 2878 + + + ClinVar + PADI3 + + + + + 1p36.13 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 27866708[PMID] + + transglutaminase 3 + TGM3 + + E polypeptide, protein-glutamine-gamma-glutamyltransferase + TGE + + + gene with protein product + + + + HGNC + 11779 + + + OMIM + 600238 + + + Genatlas + TGM3 + + + SwissProt + Q08188 + + + Ensembl + ENSG00000125780 + + + ClinVar + TGM3 + + + + + 20p13 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 1412 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1412 + Tarsal-carpal coalition syndrome + + Malformation syndrome + + + Disorder + + + + 11545688[PMID]_21538686[PMID] + + noggin + NOG + + + + gene with protein product + + + + Ensembl + ENSG00000183691 + + + Genatlas + NOG + + + HGNC + 7866 + + + OMIM + 602991 + + + Reactome + Q13253 + + + SwissProt + Q13253 + + + ClinVar + NOG + + + + + 17q22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1416 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1416 + Familial calcium pyrophosphate deposition + + Disease + + + Disorder + + + + 29578045[PMID] + + TNF receptor superfamily member 11b + TNFRSF11B + + OCIF + TR1 + osteoclastogenesis inhibitory factor + + + gene with protein product + + + + IUPHAR + 1882 + + + ClinVar + TNFRSF11B + + + Ensembl + ENSG00000164761 + + + Genatlas + TNFRSF11B + + + HGNC + 11909 + + + OMIM + 602643 + + + Reactome + O00300 + + + SwissProt + O00300 + + + + + 8q24.12 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 21102543[PMID] + + ANKH inorganic pyrophosphate transport regulator + ANKH + + solute carrier family 62, member 1 + SLC62A1 + Mineralization regulator ANKH + ANK + CPPDD + HANK + + + gene with protein product + + + + IUPHAR + 3046 + + + ClinVar + ANKH + + + Ensembl + ENSG00000154122 + + + Genatlas + ANKH + + + HGNC + 15492 + + + OMIM + 605145 + + + Reactome + Q9HCJ1 + + + SwissProt + Q9HCJ1 + + + + + 5p15.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1394 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1394 + Cerebrofaciothoracic dysplasia + + Malformation syndrome + + + Disorder + + + + 24194475[PMID] + + transmembrane and coiled-coil domains 1 + TMCO1 + + Ca(2+) load-activated Ca(2+) channel + HP10122 + + + gene with protein product + + + + Ensembl + ENSG00000143183 + + + Genatlas + TMCO1 + + + HGNC + 18188 + + + OMIM + 614123 + + + SwissProt + Q9UM00 + + + ClinVar + TMCO1 + + + + + 1q24.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 1401 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1401 + CHAND syndrome + + Malformation syndrome + + + Disorder + + + + 28940926[PMID]_25098893[PMID] + + receptor interacting serine/threonine kinase 4 + RIPK4 + + ANKK2 + DIK + PKC-delta-interacting protein kinase + PKK + RIP4 + protein kinase C-associated kinase + + + gene with protein product + + + + Reactome + P57078 + + + SwissProt + P57078 + + + Ensembl + ENSG00000183421 + + + Genatlas + RIPK4 + + + HGNC + 496 + + + IUPHAR + 2192 + + + OMIM + 605706 + + + ClinVar + RIPK4 + + + + + 21q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 141074 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141074 + External auditory canal aplasia/hypoplasia + + Morphological anomaly + + + Disorder + + + + 22152683[PMID] + + teashirt zinc finger homeobox 1 + TSHZ1 + + NY-CO-33 + TSH1 + + + gene with protein product + + + + ClinVar + TSHZ1 + + + Ensembl + ENSG00000179981 + + + Genatlas + TSHZ1 + + + HGNC + 10669 + + + OMIM + 614427 + + + SwissProt + Q6ZSZ6 + + + + + 18q22.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 174 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=174 + Metaphyseal chondrodysplasia, Schmid type + + Disease + + + Disorder + + + + 17403716[PMID] + + collagen type X alpha 1 chain + COL10A1 + + Schmid metaphyseal chondrodysplasia + + + gene with protein product + + + + ClinVar + COL10A1 + + + Ensembl + ENSG00000123500 + + + Genatlas + COL10A1 + + + HGNC + 2185 + + + OMIM + 120110 + + + Reactome + Q03692 + + + SwissProt + Q03692 + + + + + 6q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1425 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1425 + Desbuquois syndrome + + Malformation syndrome + + + Disorder + + + + 31325655[PMID]_27599773[PMID] + + chondroitin sulfate N-acetylgalactosaminyltransferase 1 + CSGALNACT1 + + ChGn + FLJ11264 + chondroitin beta1,4 N-acetylgalactosaminyltransferase + glucuronylgalactosylproteoglycan 4-beta-N- acetylgalactosaminyltransferase + CSGalNAcT-1 + + + gene with protein product + + + + Ensembl + ENSG00000147408 + + + OMIM + 616615 + + + SwissProt + Q8TDX6 + + + HGNC + 24290 + + + + + 8p21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22539336[PMID] + + calcium activated nucleotidase 1 + CANT1 + + SCAN-1 + SHAPY + Soluble Ca-Activated Nucleotidase, isozyme 1 + apyrase 1 homolog (C. lectularius) + + + gene with protein product + + + 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keratoderma and congenital alopecia + + Disease + + + Disorder + + + + 35413293[PMID] + + lanosterol synthase + LSS + + OSC + Oxidosqualene-lanosterol cyclase + + + gene with protein product + + + + Ensembl + ENSG00000160285 + + + Genatlas + LSS + + + HGNC + 6708 + + + IUPHAR + 2434 + + + OMIM + 600909 + + + Reactome + P48449 + + + SwissProt + P48449 + + + ClinVar + LSS + + + + + 21q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1393 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1393 + Cerebrocostomandibular syndrome + + Malformation syndrome + + + Disorder + + + + 25047197[PMID] + + small nuclear ribonucleoprotein polypeptides B and B1 + SNRPB + + COD + Sm-B/B' + SmB/SmB' + snRNP-B + + + gene with protein product + + + + Ensembl + ENSG00000125835 + + + Genatlas + SNRPB + + + HGNC + 11153 + + + OMIM + 182282 + + + Reactome + P14678 + + + SwissProt + P14678 + + + ClinVar + SNRPB + + + + + 20p13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 157820 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157820 + Cold-induced sweating syndrome + + Disease + + + Disorder + + + + 27392078[PMID] + + kelch like family member 7 + KLHL7 + + KLHL6 + RP42 + SBBI26 + retinitis pigmentosa 42 + + + gene with protein product + + + + Ensembl + ENSG00000122550 + + + Genatlas + KLHL7 + + + HGNC + 15646 + + + OMIM + 611119 + + + SwissProt + Q8IXQ5 + + + ClinVar + KLHL7 + + + + + 7p15.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 21370513[PMID]_12509788[PMID]_17436251[PMID] + + cytokine receptor like factor 1 + CRLF1 + + CISS + CISS1 + CLF + CLF-1 + cold-induced sweating syndrome + + + gene with protein product + + + + ClinVar + CRLF1 + + + Ensembl + ENSG00000006016 + + + Genatlas + CRLF1 + + + HGNC + 2364 + + + OMIM + 604237 + + + Reactome + O75462 + + + SwissProt + O75462 + + + + + 19p12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 1678282[PMID]_21370513[PMID]_20400119[PMID] + + cardiotrophin like cytokine factor 1 + CLCF1 + + B-cell stimulating factor 3 + BSF-3 + BSF3 + CISS2 + CLC + NNT-1 + NNT1 + NR6 + cold-induced sweating syndrome 2 + novel neurotrophin-1 + + + gene with protein product + + + + ClinVar + CLCF1 + + + Ensembl + ENSG00000175505 + + + Genatlas + CLCF1 + + + HGNC + 17412 + + + OMIM + 607672 + + + Reactome + Q9UBD9 + + + SwissProt + Q9UBD9 + + + + + 11q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 157798 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157798 + Serrated polyposis syndrome + + Disease + + + Disorder + + + + 27081527[PMID] + + ring finger protein 43 + RNF43 + + DKFZp781H0392 + FLJ20315 + URCC + RNF124 + + + gene with protein product + + + + HGNC + 18505 + + + OMIM + 612482 + + + Genatlas + RNF43 + + + SwissProt + Q68DV7 + + + Reactome + Q68DV7 + + + Ensembl + ENSG00000108375 + + + ClinVar + RNF43 + + + + + 17q22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1388 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1388 + Catel-Manzke syndrome + + Malformation syndrome + + + Disorder + + + + 25480037[PMID] + + TDP-glucose 4,6-dehydratase + TGDS + + SDR2E1 + TDPGD + short chain dehydrogenase/reductase family 2E, member 1 + + + gene with protein product + + + + Ensembl + ENSG00000088451 + + + Genatlas + TGDS + + + HGNC + 20324 + + + OMIM + 616146 + + + SwissProt + O95455 + + + ClinVar + TGDS + + + + + 13q32.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 157801 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157801 + Mesoaxial synostotic syndactyly with phalangeal reduction + + Morphological anomaly + + + Disorder + + + + 25466284[PMID] + + basic helix-loop-helix family member a9 + BHLHA9 + + BHLHF42 + Fingerin + bHLHa9 + + + gene with protein product + + + + ClinVar + BHLHA9 + + + Ensembl + ENSG00000205899 + + + Genatlas + BHLHA9 + + + HGNC + 35126 + + + OMIM + 615416 + + + SwissProt + Q7RTU4 + + + + + 17p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1387 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1387 + Cataract-intellectual disability-hypogonadism syndrome + + Malformation syndrome + + + Disorder + + + + 23420520[PMID] + + RAB3 GTPase activating protein catalytic subunit 1 + RAB3GAP1 + + KIAA0066 + RAB3GAP + RAB3GAP130 + WARBM1 + + + gene with protein product + + + + Reactome + Q15042 + + + ClinVar + RAB3GAP1 + + + Genatlas + RAB3GAP1 + + + HGNC + 17063 + + + OMIM + 602536 + + + SwissProt + Q15042 + + + Ensembl + ENSG00000115839 + + + + + 2q21.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 23420520[PMID] + + RAB3 GTPase activating non-catalytic protein subunit 2 + RAB3GAP2 + + DKFZP434D245 + KIAA0839 + RAB3-GAP150 + SPG69 + + + gene with protein product + + + + Reactome + Q9H2M9 + + + ClinVar + RAB3GAP2 + + + Ensembl + ENSG00000118873 + + + Genatlas + RAB3GAP2 + + + HGNC + 17168 + + + OMIM + 609275 + + + SwissProt + Q9H2M9 + + + + + 1q41 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 157791 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157791 + Epithelioid hemangioendothelioma + + Disease + + + Disorder + + + + 24986479[PMID] + + transcription factor binding to IGHM enhancer 3 + TFE3 + + TFEA + bHLHe33 + transcription factor E family, member A + + + gene with protein product + + + + Reactome + P19532 + + + ClinVar + TFE3 + + + Ensembl + ENSG00000068323 + + + Genatlas + TFE3 + + + HGNC + 11752 + + + OMIM + 314310 + + + SwissProt + P19532 + + + + + Xp11.23 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 24986479[PMID] + + calmodulin binding transcription activator 1 + CAMTA1 + + KIAA0833 + + + gene with protein product + + + + Ensembl + ENSG00000171735 + + + Genatlas + CAMTA1 + + + HGNC + 18806 + + + OMIM + 611501 + + + SwissProt + Q9Y6Y1 + + + ClinVar + CAMTA1 + + + + + 1p36.31-p36.23 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 24986479[PMID] + + Yes1 associated transcriptional regulator + YAP1 + + YAP-1 + YAP65 + + + gene with protein product + + + + Ensembl + ENSG00000137693 + + + Genatlas + YAP1 + + + HGNC + 16262 + + + OMIM + 606608 + + + Reactome + P46937 + + + SwissProt + P46937 + + + ClinVar + YAP1 + + + + + 11q22.1 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 24986479[PMID] + + WW domain containing transcription regulator 1 + WWTR1 + + DKFZp586I1419 + TAZ + transcriptional coactivator with PDZ-binding motif + + + gene with protein product + + + + ClinVar + WWTR1 + + + Ensembl + ENSG00000018408 + + + Genatlas + WWTR1 + + + HGNC + 24042 + + + OMIM + 607392 + + + Reactome + Q9GZV5 + + + SwissProt + Q9GZV5 + + + + + 3q25.1 + 1 + + + + + Part of a fusion gene in + + + Assessed + 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Disease-causing germline mutation(s) in + + + Assessed + + + + + + 157769 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157769 + Situs ambiguus + + Morphological anomaly + + + Disorder + + + + 27616478[PMID] + + polycystin 1 like 1, transient receptor potential channel interacting + PKD1L1 + + polycystin-1L1 + PRO19563 + + + gene with protein product + + + + Genatlas + PKD1L1 + + + SwissProt + Q8TDX9 + + + Ensembl + ENSG00000158683 + + + ClinVar + PKD1L1 + + + HGNC + 18053 + + + OMIM + 609721 + + + + + 7p12.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + Zic family zinc finger 3 + ZIC3 + + Zinc finger protein of the cerebellum 3 + HTX + ZNF203 + + + gene with protein product + + + + ClinVar + ZIC3 + + + Ensembl + ENSG00000156925 + + + Genatlas + ZIC3 + + + HGNC + 12874 + + + OMIM + 300265 + + + Reactome + O60481 + + + SwissProt + O60481 + + + + + Xq26.3 + 1 + + + + + Major susceptibility factor in + + + Not yet assessed + + + + + + activin A receptor type 2B + ACVR2B + + ActR-IIB + + + gene with protein product + + + + Ensembl + ENSG00000114739 + + + Genatlas + ACVR2B + + + HGNC + 174 + + + IUPHAR + 1792 + + + OMIM + 602730 + + + Reactome + Q13705 + + + SwissProt + Q13705 + + + ClinVar + ACVR2B + + + + + 3p22.2 + 1 + + + + + Major susceptibility factor in + + + Not yet assessed + + + + + + left-right determination factor 2 + LEFTY2 + + LEFTA + LEFTYA + transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A) + + + gene with protein product + + + + OMIM + 601877 + + + Reactome + O00292 + + + SwissProt + O00292 + + + Ensembl + ENSG00000143768 + + + Genatlas + LEFTY2 + + + HGNC + 3122 + + + ClinVar + LEFTY2 + + + + + 1q42.12 + 1 + + + + + Major susceptibility factor in + + + Not yet assessed + + + + 9354794[PMID] + + nodal growth differentiation factor + NODAL + + + + gene with protein product + + + + ClinVar + NODAL + + + Ensembl + ENSG00000156574 + + + Genatlas + NODAL + + + HGNC + 7865 + + + OMIM + 601265 + + + Reactome + Q96S42 + + + SwissProt + Q96S42 + + + + + 10q22.1 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 22577226[PMID] + + cilia and flagella associated protein 53 + CFAP53 + + FLJ32743 + + + gene with protein product + + + + Reactome + Q96M91 + + + Ensembl + ENSG00000172361 + + + Genatlas + CCDC11 + + + HGNC + 26530 + + + OMIM + 614759 + + + SwissProt + Q96M91 + + + ClinVar + CCDC11 + + + + + 18q21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26437029[PMID] + + matrix metallopeptidase 21 + MMP21 + + + + gene with protein product + + + + ClinVar + MMP21 + + + HGNC + 14357 + + + IUPHAR + 1644 + + + OMIM + 608416 + + + SwissProt + Q8N119 + + + Ensembl + ENSG00000154485 + + + Genatlas + MMP21 + + + + + 10q26.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 19064609[PMID] + + nodal growth differentiation factor + NODAL + + + + gene with protein product + + 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protein product + + + + ClinVar + CFC1 + + + Ensembl + ENSG00000136698 + + + Genatlas + CFC1 + + + HGNC + 18292 + + + OMIM + 605194 + + + Reactome + P0CG37 + + + SwissProt + P0CG37 + + + + + 2q21.1 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 157716 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157716 + Late infantile CACH syndrome + + Clinical subtype + + + Subtype of disorder + + + + 20301435[PMID] + + eukaryotic translation initiation factor 2B subunit alpha + EIF2B1 + + EIF2Balpha + EIF-2B + EIF-2Balpha + EIF2BA + + + gene with protein product + + + + ClinVar + EIF2B1 + + + Ensembl + ENSG00000111361 + + + Genatlas + EIF2B1 + + + HGNC + 3257 + + + OMIM + 606686 + + + Reactome + Q14232 + + + SwissProt + Q14232 + + + + + 12q24.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301435[PMID] + + eukaryotic translation initiation factor 2B subunit beta + EIF2B2 + + EIF2Bbeta + EIF-2Bbeta + EIF2B + + + gene with 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SwissProt + Q9UI10 + + + + + 2p23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301435[PMID] + + eukaryotic translation initiation factor 2B subunit epsilon + EIF2B5 + + EIF-2B + EIF2Bepsilon + + + gene with protein product + + + + ClinVar + EIF2B5 + + + Ensembl + ENSG00000145191 + + + Genatlas + EIF2B5 + + + HGNC + 3261 + + + OMIM + 603945 + + + Reactome + Q13144 + + + SwissProt + Q13144 + + + + + 3q27.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 157719 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157719 + Juvenile or adult CACH syndrome + + Clinical subtype + + + Subtype of disorder + + + + 20301435[PMID] + + eukaryotic translation initiation factor 2B subunit alpha + EIF2B1 + + EIF2Balpha + EIF-2B + EIF-2Balpha + EIF2BA + + + gene with protein product + + + + ClinVar + EIF2B1 + + + Ensembl + ENSG00000111361 + + + Genatlas + EIF2B1 + + + HGNC + 3257 + + + OMIM + 606686 + + + Reactome + Q14232 + 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Ensembl + ENSG00000070785 + + + Genatlas + EIF2B3 + + + HGNC + 3259 + + + OMIM + 606273 + + + Reactome + Q9NR50 + + + + + 1p34.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301435[PMID] + + eukaryotic translation initiation factor 2B subunit delta + EIF2B4 + + DKFZP586J0119 + EIF-2B + EIF2B + EIF2Bdelta + + + gene with protein product + + + + ClinVar + EIF2B4 + + + Ensembl + ENSG00000115211 + + + Genatlas + EIF2B4 + + + HGNC + 3260 + + + OMIM + 606687 + + + Reactome + Q9UI10 + + + SwissProt + Q9UI10 + + + + + 2p23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301435[PMID] + + eukaryotic translation initiation factor 2B subunit epsilon + EIF2B5 + + EIF-2B + EIF2Bepsilon + + + gene with protein product + + + + ClinVar + EIF2B5 + + + Ensembl + ENSG00000145191 + + + Genatlas + EIF2B5 + + + HGNC + 3261 + + + OMIM + 603945 + + + Reactome + Q13144 + + + SwissProt + Q13144 + + + + + 3q27.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1377 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1377 + Cataract-microcornea syndrome + + Malformation syndrome + + + Disorder + + + + 21686328[PMID]_21612679[PMID]_17724170[PMID] + + crystallin alpha A + CRYAA + + HSPB4 + + + gene with protein product + + + + ClinVar + CRYAA + + + Ensembl + ENSG00000160202 + + + Genatlas + CRYAA + + + HGNC + 2388 + + + OMIM + 123580 + + + SwissProt + P02489 + + + + + 21q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20577656[PMID] + + crystallin beta A4 + CRYBA4 + + + + gene with protein product + + + + ClinVar + CRYBA4 + + + Reactome + P53673 + + + Ensembl + ENSG00000196431 + + + Genatlas + CRYBA4 + + + HGNC + 2396 + + + OMIM + 123631 + + + SwissProt + P53673 + + + + + 22q12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21402992[PMID] + + crystallin beta B2 + CRYBB2 + + + + gene with protein product + + + + ClinVar 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157215 + Hereditary hypophosphatemic rickets with hypercalciuria + + Disease + + + Disorder + + + + 16358215[PMID] + + solute carrier family 34 member 3 + SLC34A3 + + NPT2C + FLJ38680 + NPTIIc + Sodium-dependent phosphate transport protein 2C + NaPi-2c + + + gene with protein product + + + + SwissProt + Q8N130 + + + Ensembl + ENSG00000198569 + + + Genatlas + SLC34A3 + + + HGNC + 20305 + + + OMIM + 609826 + + + Reactome + Q8N130 + + + ClinVar + SLC34A3 + + + IUPHAR + 1137 + + + + + 9q34.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 32311027[PMID] + + solute carrier family 34 member 1 + SLC34A1 + + NAPI-3 + NPTIIa + Na+-phosphate cotransporter type II + SLC11 + sodium/phosphate co-transporter + solute carrier family 17 (sodium phosphate), member 2 + + + gene with protein product + + + + IUPHAR + 1135 + + + Ensembl + ENSG00000131183 + + + Genatlas + SLC34A1 + + + HGNC + 11019 + 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+ + 25427950[PMID] + + WD repeat containing planar cell polarity effector + WDPCP + + BBS15 + fritz + hFrtz + CPLANE5 + ciliogenesis and planar polarity effector complex subunit 5 + + + gene with protein product + + + + Ensembl + ENSG00000143951 + + + Genatlas + WDPCP + + + HGNC + 28027 + + + OMIM + 613580 + + + SwissProt + O95876 + + + ClinVar + WDPCP + + + + + 2p15 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1340 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340 + Cardiofaciocutaneous syndrome + + Malformation syndrome + + + Disorder + + + + 20301365[PMID]_16825433[PMID] + + B-Raf proto-oncogene, serine/threonine kinase + BRAF + + BRAF1 + BRAF-1 + + + gene with protein product + + + + Ensembl + ENSG00000157764 + + + Genatlas + BRAF + + + HGNC + 1097 + + + IUPHAR + 1943 + + + OMIM + 164757 + + + Reactome + P15056 + + + SwissProt + P15056 + + + ClinVar + BRAF + + + + + 7q34 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 20301365[PMID]_16825433[PMID] + + KRAS proto-oncogene, GTPase + KRAS + + KRAS1 + K-Ras4B + + + gene with protein product + + + + IUPHAR + 2824 + + + ClinVar + KRAS + + + Ensembl + ENSG00000133703 + + + Genatlas + KRAS + + + HGNC + 6407 + + + OMIM + 190070 + + + Reactome + P01116 + + + SwissProt + P01116 + + + + + 12p12.1 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 20301365[PMID]_16825433[PMID] + + mitogen-activated protein kinase kinase 1 + MAP2K1 + + MAPKK1 + MEK1 + MKK1 + dual specificity mitogen-activated protein kinase kinase 1 + MAP kinase kinase 1 + MAPK/ERK kinase 1 + + + gene with protein product + + + + Ensembl + ENSG00000169032 + + + Genatlas + MAP2K1 + + + HGNC + 6840 + + + IUPHAR + 2062 + + + OMIM + 176872 + + + Reactome + Q02750 + + + SwissProt + Q02750 + + + ClinVar + MAP2K1 + + + + + 15q22.31 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 20301365[PMID]_16825433[PMID] + + mitogen-activated protein kinase kinase 2 + MAP2K2 + + MKK2 + MAP kinase kinase 2 + MEK2 + + + gene with protein product + + + + OMIM + 601263 + + + Reactome + P36507 + + + SwissProt + P36507 + + + Ensembl + ENSG00000126934 + + + Genatlas + MAP2K2 + + + HGNC + 6842 + + + IUPHAR + 2063 + + + ClinVar + MAP2K2 + + + + + 19p13.3 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 2856 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856 + Persistent Müllerian duct syndrome + + Malformation syndrome + + + Disorder + + + + 23295284[PMID] + + anti-Mullerian hormone + AMH + + MIS + Muellerian-inhibiting factor + Muellerian-inhibiting substance + MIF + + + gene with protein product + + + + ClinVar + AMH + + + SwissProt + P03971 + + + Ensembl + ENSG00000104899 + + + Genatlas + AMH + + + HGNC + 464 + + + OMIM + 600957 + + + Reactome + P03971 + + + + + 19p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23295284[PMID] + + anti-Mullerian hormone receptor type 2 + AMHR2 + + MISR2 + MISRII + Muellerian inhibiting substance type II receptor + + + gene with protein product + + + + Ensembl + ENSG00000135409 + + + Genatlas + AMHR2 + + + HGNC + 465 + + + IUPHAR + 1793 + + + OMIM + 600956 + + + SwissProt + Q16671 + + + ClinVar + AMHR2 + + + Reactome + Q16671 + + + + + 12q13.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1766 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1766 + Dysequilibrium syndrome + + Disease + + + Disorder + + + + 21885617[PMID] + + very low density lipoprotein receptor + VLDLR + + CARMQ1 + CHRMQ1 + VLDLRCH + + + gene with protein product + + + + ClinVar + VLDLR + + + Reactome + P98155 + + + HGNC + 12698 + + + OMIM + 192977 + + + SwissProt + P98155 + + + Ensembl + ENSG00000147852 + + + Genatlas + VLDLR + + + + + 9p24.2 + 1 + + + + + Disease-causing germline mutation(s) in + 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ENSG00000132932 + + + Genatlas + ATP8A2 + + + HGNC + 13533 + + + ClinVar + ATP8A2 + + + IUPHAR + 855 + + + + + 13q12.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 28013290[PMID] + + tubulin beta 2B class IIb + TUBB2B + + DKFZp566F223 + MGC8685 + bA506K6.1 + class IIb beta-tubulin + + + gene with protein product + + + + Ensembl + ENSG00000137285 + + + Genatlas + TUBB2B + + + HGNC + 30829 + + + OMIM + 612850 + + + Reactome + Q9BVA1 + + + SwissProt + Q9BVA1 + + + ClinVar + TUBB2B + + + + + 6p25.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1777 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1777 + Temtamy syndrome + + Malformation syndrome + + + Disorder + + + + 23453665[PMID]_23453666[PMID] + + chromosome 12 open reading frame 57 + C12ORF57 + + gene rich cluster C10 gene + C10 + GRCC10 + + + gene with protein product + + + + ClinVar + C12orf57 + + + Ensembl + ENSG00000111678 + + + Genatlas + C12orf57 + 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receptor activator of nuclear factor kappa B + TRANCE-R + TRANCE receptor + familial expansile osteolysis + + + gene with protein product + + + + IUPHAR + 1881 + + + Ensembl + ENSG00000141655 + + + Genatlas + TNFRSF11A + + + HGNC + 11908 + + + OMIM + 603499 + + + Reactome + Q9Y6Q6 + + + SwissProt + Q9Y6Q6 + + + ClinVar + TNFRSF11A + + + + + 18q21.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 30537558[PMID] + + T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 + TCIRG1 + + ATP6N1C + ATP6V0A3 + Atp6i + OC-116 + OC116 + T-cell immune response cDNA 7 + TIRC7 + a3 + V-ATPase subunit a3 + + + gene with protein product + + + + Ensembl + ENSG00000110719 + + + Genatlas + TCIRG1 + + + HGNC + 11647 + + + OMIM + 604592 + + + Reactome + Q13488 + + + SwissProt + Q13488 + + + ClinVar + TCIRG1 + + + IUPHAR + 825 + + + + + 11q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + solute carrier family 29 member 3 + SLC29A3 + 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Transcobalamin deficiency + + Disease + + + Disorder + + + + 20607612[PMID] + + transcobalamin 2 + TCN2 + + D22S676 + D22S750 + TC2 + macrocytic anemia + + + gene with protein product + + + + OMIM + 613441 + + + Reactome + P20062 + + + SwissProt + P20062 + + + Ensembl + ENSG00000185339 + + + Genatlas + TCN2 + + + HGNC + 11653 + + + ClinVar + TCN2 + + + + + 22q12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 139441 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139441 + Hypomyelination with atrophy of basal ganglia and cerebellum + + Disease + + + Disorder + + + + 23582646[PMID] + + tubulin beta 4A class IVa + TUBB4A + + beta-5 + class IVa beta-tubulin + + + gene with protein product + + + + Ensembl + ENSG00000104833 + + + Genatlas + TUBB4A + + + HGNC + 20774 + + + OMIM + 602662 + + + Reactome + P04350 + + + SwissProt + P04350 + + + ClinVar + TUBB4A + + + + + 19p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1573 + Hypotrichosis with juvenile macular degeneration + + Malformation syndrome + + + Disorder + + + + 11544476[PMID]_12445216[PMID]_22140374[PMID] + + cadherin 3 + CDH3 + + P-cadherin + CDHP + PCAD + + + gene with protein product + + + + OMIM + 114021 + + + Reactome + P22223 + + + SwissProt + P22223 + + + Ensembl + ENSG00000062038 + + + Genatlas + CDH3 + + + HGNC + 1762 + + + ClinVar + CDH3 + + + + + 16q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 726 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=726 + Alpers-Huttenlocher syndrome + + Disease + + + Disorder + + + + 22237560[PMID]_22000311[PMID]_23545419[PMID] + + DNA polymerase gamma, catalytic subunit + POLG + + POLG1 + POLGA + + + gene with protein product + + + + IUPHAR + 3310 + + + Ensembl + ENSG00000140521 + + + Genatlas + POLG + + + HGNC + 9179 + + + OMIM + 174763 + + + SwissProt + P54098 + + + Reactome + P54098 + + + ClinVar + POLG + + + + + 15q26.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 139455 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139455 + Autosomal recessive bestrophinopathy + + Disease + + + Disorder + + + + 18179881[PMID] + + bestrophin 1 + BEST1 + + BEST + BMD + Best disease + RP50 + + + gene with protein product + + + + ClinVar + BEST1 + + + Ensembl + ENSG00000167995 + + + Genatlas + BEST1 + + + HGNC + 12703 + + + OMIM + 607854 + + + Reactome + O76090 + + + SwissProt + O76090 + + + + + 11q12.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 139466 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139466 + SERKAL syndrome + + Malformation syndrome + + + Disorder + + + + 18179883[PMID] + + Wnt family member 4 + WNT4 + + WNT-4 + + + gene with protein product + + + + ClinVar + WNT4 + + + Ensembl + ENSG00000162552 + + + Genatlas + WNT4 + + + HGNC + 12783 + + + OMIM + 603490 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32366965[PMID] + + nuclear receptor subfamily 4 group A member 2 + NR4A2 + + TINUR + NOT + RNR1 + HZF-3 + + + gene with protein product + + + + HGNC + 7981 + + + Ensembl + ENSG00000153234 + + + SwissProt + P43354 + + + Reactome + P43354 + + + IUPHAR + 630 + + + OMIM + 601828 + + + + + 2q24.1 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 24458984[PMID] + + T-box brain transcription factor 1 + TBR1 + + + + gene with protein product + + + + Genatlas + TBR1 + + + SwissProt + Q16650 + + + OMIM + 604616 + + + HGNC + 11590 + + + Ensembl + ENSG00000136535 + + + ClinVar + TBR1 + + + + + 2q24.2 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 1606 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1606 + 1p36 deletion syndrome + + Malformation syndrome + + + Disorder + + + + 27087320[PMID] + + arginine-glutamic acid dipeptide repeats + RERE + + ARG + atrophin 2 + ATN2 + ARP + DNB1 + KIAA0458 + + + gene with protein product + + + + Reactome + Q9P2R6 + + + HGNC + 9965 + + + OMIM + 605226 + + + ClinVar + RERE + + + Genatlas + RERE + + + SwissProt + Q9P2R6 + + + Ensembl + ENSG00000142599 + + + + + 1p36.23 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 24454898[PMID] + + protein kinase C zeta + PRKCZ + + PKC2 + + + gene with protein product + + + + SwissProt + Q05513 + + + HGNC + 9412 + + + OMIM + 176982 + + + IUPHAR + 1491 + + + Ensembl + ENSG00000067606 + + + + + 1p36.33 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 24454898[PMID] + + ubiquitination factor E4B + UBE4B + + E4 + UBOX3 + KIAA0684 + UFD2 + + + gene with protein product + + + + SwissProt + O95155 + + + HGNC + 12500 + + + Ensembl + ENSG00000130939 + + + OMIM + 613565 + + + + + 1p36.22 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 26345236[PMID] + + matrix metallopeptidase 23B + MMP23B + + matrix metalloproteinase in the female reproductive tract + MIFR-1 + femalysin + MIFR + matrix metalloproteinase 22 + + + gene with 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22766398[PMID]_17633087[PMID] + + potassium voltage-gated channel subfamily A regulatory beta subunit 2 + KCNAB2 + + HKvbeta2.2 + KCNA2B + AKR6A5 + HKvbeta2.1 + + + gene with protein product + + + + Ensembl + ENSG00000069424 + + + Genatlas + KCNAB2 + + + HGNC + 6229 + + + OMIM + 601142 + + + Reactome + Q13303 + + + SwissProt + Q13303 + + + ClinVar + KCNAB2 + + + + + 1p36.31 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 23768516[PMID] + + PR/SET domain 16 + PRDM16 + + KIAA1675 + MDS1/EVI1-like + MEL1 + MGC166915 + PFM13 + PR-domain zinc finger protein 16 + Transcription factor MEL1 + KMT8F + transcription factor MEL1 + + + gene with protein product + + + + Ensembl + ENSG00000142611 + + + Genatlas + PRDM16 + + + HGNC + 14000 + + + OMIM + 605557 + + + Reactome + Q9HAZ2 + + + SwissProt + Q9HAZ2 + + + ClinVar + PRDM16 + + + + + 1p36.32 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 24454898[PMID] + + castor zinc finger 1 + CASZ1 + + castor + ZNF693 + SRG + 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ClinVar + PNPLA6 + + + Reactome + Q8IY17 + + + Genatlas + PNPLA6 + + + HGNC + 16268 + + + OMIM + 603197 + + + SwissProt + Q8IY17 + + + Ensembl + ENSG00000032444 + + + + + 19p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 139485 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139485 + Autosomal recessive ataxia due to ubiquinone deficiency + + Disease + + + Disorder + + + + 20301317[PMID] + + coenzyme Q8A + COQ8A + + COQ8 + SCAR9 + coenzyme Q8 homolog (yeast) + + + gene with protein product + + + + Genatlas + ADCK3 + + + HGNC + 16812 + + + IUPHAR + 1927 + + + OMIM + 606980 + + + SwissProt + Q8NI60 + + + Ensembl + ENSG00000163050 + + + Reactome + Q8NI60 + + + ClinVar + ADCK3 + + + + + 1q42.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 139515 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139515 + Charcot-Marie-Tooth disease type 4J + + Disease + + + Disorder + + + + 24228289[PMID]_20301641[PMID] + + FIG4 phosphoinositide 5-phosphatase + FIG4 + + ALS11 + CMT4J + SAC3 + dJ249I4.1 + hSac3 + + + gene with protein product + + + + ClinVar + FIG4 + + + Ensembl + ENSG00000112367 + + + Genatlas + FIG4 + + + HGNC + 16873 + + + OMIM + 609390 + + + Reactome + Q92562 + + + SwissProt + Q92562 + + + + + 6q21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 139512 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139512 + Neuropathy with hearing impairment + + Disease + + + Disorder + + + + 11309368[PMID] + + gap junction protein beta 3 + GJB3 + + CX31 + connexin 31 + + + gene with protein product + + + + HGNC + 4285 + + + OMIM + 603324 + + + Reactome + O75712 + + + SwissProt + O75712 + + + ClinVar + GJB3 + + + Ensembl + ENSG00000188910 + + + Genatlas + GJB3 + + + IUPHAR + 720 + + + + + 1p34.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 139525 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139525 + Distal hereditary motor neuropathy type 2 + + Disease + + + Disorder + + + + 15122254[PMID] + + heat shock protein family B (small) member 1 + HSPB1 + + CMT2F + HSP27 + HSP28 + Hs.76067 + Hsp25 + + + gene with protein product + + + + ClinVar + HSPB1 + + + Ensembl + ENSG00000106211 + + + Genatlas + HSPB1 + + + HGNC + 5246 + + + OMIM + 602195 + + + Reactome + P04792 + + + SwissProt + P04792 + + + + + 7q11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 15122253[PMID] + + heat shock protein family B (small) member 8 + HSPB8 + + CMT2L + E2IG1 + H11 + HSP22 + HspB8 + + + gene with protein product + + + + ClinVar + HSPB8 + + + Ensembl + ENSG00000152137 + + + Genatlas + HSPB8 + + + HGNC + 30171 + + + OMIM + 608014 + + + Reactome + Q9UJY1 + + + SwissProt + Q9UJY1 + + + + + 12q24.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20142617[PMID] + + heat shock protein family B (small) member 3 + HSPB3 + + HSPL27 + + + gene with protein product + + + + Ensembl + ENSG00000169271 + + + Genatlas + HSPB3 + + + HGNC + 5248 + + + OMIM + 604624 + + + SwissProt + Q12988 + + + ClinVar + HSPB3 + + + + + 5q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24207122[PMID] + + F-box protein 38 + FBXO38 + + FLJ13962 + Fbx38 + MOKA + SP329 + + + gene with protein product + + + + Reactome + Q6PIJ6 + + + Ensembl + ENSG00000145868 + + + Genatlas + FBXO38 + + + HGNC + 28844 + + + OMIM + 608533 + + + SwissProt + Q6PIJ6 + + + ClinVar + FBXO38 + + + + + 5q32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1658 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1658 + Absence of fingerprints-congenital milia syndrome + + Disease + + + Disorder + + + + 26932190[PMID] + + SNF2 related chromatin remodeling ATPase with DExD box 1 + SMARCAD1 + + DKFZP762K2015 + DKFZp762K2015 + ETL1 + KIAA1122 + 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Reactome + P12814 + + + SwissProt + P12814 + + + + + 14q24.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 140944 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140944 + CLOVES syndrome + + Malformation syndrome + + + Disorder + + + + 22658544[PMID] + + phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha + PIK3CA + + PI3K + + + gene with protein product + + + + Reactome + P42336 + + + SwissProt + P42336 + + + Ensembl + ENSG00000121879 + + + Genatlas + PIK3CA + + + HGNC + 8975 + + + IUPHAR + 2153 + + + OMIM + 171834 + + + ClinVar + PIK3CA + + + + + 3q26.32 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 1555 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1555 + Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome + + Malformation syndrome + + + Disorder + + + + 20301628[PMID]_21438135[PMID] + + fibroblast growth factor receptor 2 + FGFR2 + + CD332 + CEK3 + Crouzon syndrome + ECT1 + K-SAM + Pfeiffer syndrome + TK14 + TK25 + + + gene with protein product + + + + Ensembl + ENSG00000066468 + + + Genatlas + FGFR2 + + + HGNC + 3689 + + + IUPHAR + 1809 + + + OMIM + 176943 + + + Reactome + P21802 + + + SwissProt + P21802 + + + ClinVar + FGFR2 + + + + + 10q26.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 140941 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140941 + Short stature due to primary acid-labile subunit deficiency + + Disease + + + Disorder + + + + 21396577[PMID] + + insulin like growth factor binding protein acid labile subunit + IGFALS + + ALS + + + gene with protein product + + + + ClinVar + IGFALS + + + Ensembl + ENSG00000099769 + + + Genatlas + IGFALS + + + HGNC + 5468 + + + OMIM + 601489 + + + Reactome + P35858 + + + SwissProt + P35858 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1553 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1553 + Curry-Jones syndrome + + Malformation syndrome + + + Disorder + + + + 27236920[PMID] + + smoothened, frizzled class receptor + SMO + + frizzled family member 11 + FZD11 + + + gene with protein product + + + + HGNC + 11119 + + + OMIM + 601500 + + + Genatlas + SMO + + + SwissProt + Q99835 + + + Reactome + Q99835 + + + Ensembl + ENSG00000128602 + + + IUPHAR + 239 + + + ClinVar + SMO + + + + + 7q32.1 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 140927 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140927 + Self-limited neonatal-infantile epilepsy + + Disease + + + Disorder + + + + 12243921[PMID] + + sodium voltage-gated channel alpha subunit 2 + SCN2A + + HBSCI + HBSCII + Nav1.2 + + + gene with protein product + + + + ClinVar + SCN2A + + + Ensembl + ENSG00000136531 + + + Genatlas + SCN2A + + + HGNC + 10588 + + + IUPHAR + 579 + + + OMIM + 182390 + + + Reactome + Q99250 + + 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HGNC + 6269 + + + IUPHAR + 441 + + + OMIM + 600935 + + + Reactome + Q15842 + + + SwissProt + Q15842 + + + Ensembl + ENSG00000121361 + + + ClinVar + KCNJ8 + + + + + 12p12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1519 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1519 + SPECC1L-related hypertelorism syndrome + + Malformation syndrome + + + Disorder + + + + 26111080[PMID] + + sperm antigen with calponin homology and coiled-coil domains 1 like + SPECC1L + + CYTSA + KIAA0376 + cytokinesis and spindle organization A + + + gene with protein product + + + + Reactome + Q69YQ0 + + + Ensembl + ENSG00000100014 + + + Genatlas + SPECC1L + + + HGNC + 29022 + + + OMIM + 614140 + + + SwissProt + Q69YQ0 + + + ClinVar + SPECC1L + + + + + 22q11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1520 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1520 + Craniofrontonasal dysplasia + + Malformation 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Malformation syndrome + + + Disorder + + + + 22791528[PMID]_24027799[PMID]_21438135[PMID] + + intraflagellar transport 122 + IFT122 + + FAP80 + CFAP80 + SPG + WDR10p + WDR140 + + + gene with protein product + + + + ClinVar + IFT122 + + + Ensembl + ENSG00000163913 + + + Genatlas + IFT122 + + + HGNC + 13556 + + + OMIM + 606045 + + + Reactome + Q9HBG6 + + + SwissProt + Q9HBG6 + + + + + 3q21.3-q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22791528[PMID]_24027799[PMID]_21438135[PMID] + + WD repeat domain 35 + WDR35 + + FAP118 + IFT121 + IFTA1 + KIAA1336 + MGC33196 + CFAP118 + + + gene with protein product + + + + ClinVar + WDR35 + + + Ensembl + ENSG00000118965 + + + Genatlas + WDR35 + + + HGNC + 29250 + + + OMIM + 613602 + + + Reactome + Q9P2L0 + + + SwissProt + Q9P2L0 + + + + + 2p24.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22791528[PMID]_24027799[PMID] + + intraflagellar transport 43 + IFT43 + + FLJ32173 + MGC16028 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2136 + Hennekam syndrome + + Malformation syndrome + + + Disorder + + + + 19935664[PMID] + + collagen and calcium binding EGF domains 1 + CCBE1 + + FLJ30681 + KIAA1983 + + + gene with protein product + + + + Ensembl + ENSG00000183287 + + + Genatlas + CCBE1 + + + HGNC + 29426 + + + OMIM + 612753 + + + SwissProt + Q6UXH8 + + + ClinVar + CCBE1 + + + + + 18q21.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24913602[PMID] + + FAT atypical cadherin 4 + FAT4 + + CDHF14 + CDHR11 + FAT-J + cadherin-related family member 11 + + + gene with protein product + + + + HGNC + 23109 + + + OMIM + 612411 + + + SwissProt + Q6V0I7 + + + Ensembl + ENSG00000196159 + + + Genatlas + FAT4 + + + ClinVar + FAT4 + + + + + 4q28.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 28985353[PMID] + + ADAM metallopeptidase with thrombospondin type 1 motif 3 + ADAMTS3 + + ADAMTS-4 + KIAA0366 + + + 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BFGFR + CD331 + CEK + FLG + H2 + H3 + H4 + H5 + N-SAM + Pfeiffer syndrome + + + gene with protein product + + + + Ensembl + ENSG00000077782 + + + Genatlas + FGFR1 + + + HGNC + 3688 + + + IUPHAR + 1808 + + + OMIM + 136350 + + + Reactome + P11362 + + + SwissProt + P11362 + + + ClinVar + FGFR1 + + + + + 8p11.23 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 376 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=376 + Gordon syndrome + + Malformation syndrome + + + Disorder + + + + 24726473[PMID] + + piezo type mechanosensitive ion channel component 2 + PIEZO2 + + FLJ23144 + FLJ23403 + FLJ34907 + HsT748 + HsT771 + + + gene with protein product + + + + ClinVar + PIEZO2 + + + IUPHAR + 2946 + + + Ensembl + ENSG00000154864 + + + Genatlas + PIEZO2 + + + HGNC + 26270 + + + OMIM + 613629 + + + SwissProt + Q9H5I5 + + + + + 18p11.22-p11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2092 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092 + Focal dermal hypoplasia + + Malformation syndrome + + + Disorder + + + + 19586929[PMID] + + porcupine O-acyltransferase + PORCN + + MG61 + PORC + PPN + por + + + gene with protein product + + + + ClinVar + PORCN + + + IUPHAR + 3145 + + + Ensembl + ENSG00000102312 + + + Genatlas + PORCN + + + HGNC + 17652 + + + OMIM + 300651 + + + Reactome + Q9H237 + + + SwissProt + Q9H237 + + + + + Xp11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2098 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2098 + Acromesomelic dysplasia, Grebe type + + Malformation syndrome + + + Disorder + + + + 24129431[PMID] + + bone morphogenetic protein receptor type 1B + BMPR1B + + ALK6 + CDw293 + + + gene with protein product + + + + Ensembl + ENSG00000138696 + + + Genatlas + BMPR1B + + + HGNC + 1077 + + + IUPHAR + 1789 + + + OMIM + 603248 + + + Reactome + O00238 + + + SwissProt + O00238 + + + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157846 + Neuroferritinopathy + + Disease + + + Disorder + + + + 16116125[PMID]_23447832[PMID] + + ferritin light chain + FTL + + L apoferritin + MGC71996 + NBIA3 + ferritin L subunit + ferritin L-chain + ferritin light polypeptide-like 3 + neurodegeneration with brain iron accumulation 3 + FTL1 + + + gene with protein product + + + + ClinVar + FTL + + + Ensembl + ENSG00000087086 + + + Genatlas + FTL + + + HGNC + 3999 + + + OMIM + 134790 + + + Reactome + P02792 + + + SwissProt + P02792 + + + + + 19q13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2067 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2067 + GAPO syndrome + + Malformation syndrome + + + Disorder + + + + 23602711[PMID] + + ANTXR cell adhesion molecule 1 + ANTXR1 + + ATR + Anthrax toxin receptor + FLJ10601 + FLJ21776 + TEM8 + Tumor endothelial marker 8 precursor + anthrax toxin receptor + tumor endothelial marker 8 precursor + + + gene with protein product + + + + Ensembl + ENSG00000169604 + + + Genatlas + ANTXR1 + + + HGNC + 21014 + + + OMIM + 606410 + + + Reactome + Q9H6X2 + + + SwissProt + Q9H6X2 + + + ClinVar + ANTXR1 + + + + + 2p13.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 2065 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2065 + Galloway-Mowat syndrome + + Malformation syndrome + + + Disorder + + + + 28805828[PMID] + + O-sialoglycoprotein endopeptidase + OSGEP + + GCPL1 + KAE1 + OSGEP1 + PRSMG1 + TCS3 + + + gene with protein product + + + + ClinVar + OSGEP + + + HGNC + 18028 + + + Ensembl + ENSG00000092094 + + + SwissProt + Q9NPF4 + + + OMIM + 610107 + + + Genatlas + OSGEP + + + Reactome + Q9NPF4 + + + + + 14q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 28805828[PMID] + + TP53 regulating kinase + TP53RK + + BUD32 + dJ101A2.2 + Nori-2p + prpk + p53-related protein kinase + 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domain 4 METTL1 scaffold protein + TRMT82 + TRM82 + TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae) + + + gene with protein product + + + + Genatlas + WDR4 + + + HGNC + 12756 + + + Ensembl + ENSG00000160193 + + + SwissProt + P57081 + + + OMIM + 605924 + + + Reactome + P57081 + + + ClinVar + WDR4 + + + + + 21q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 31481669[PMID] + + GON7 subunit of KEOPS complex + GON7 + + + + gene with protein product + + + + HGNC + 20356 + + + Ensembl + ENSG00000170270 + + + SwissProt + Q9BXV9 + + + Reactome + Q9BXV9 + + + OMIM + 617436 + + + + + 14q32.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 30427554[PMID] + + nucleoporin 133 + NUP133 + + FLJ10814 + + + gene with protein product + + + + Ensembl + ENSG00000069248 + + + SwissProt + Q8WUM0 + + + Reactome + Q8WUM0 + + + OMIM + 607613 + + + HGNC + 18016 + + + + + 1q42.13 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 31481669[PMID] + + yrdC N6-threonylcarbamoyltransferase domain containing + YRDC + + FLJ23476 + SUA5 + ischemia/reperfusion inducible protein + IRIP + + + gene with protein product + + + + Ensembl + ENSG00000196449 + + + HGNC + 28905 + + + OMIM + 612276 + + + SwissProt + Q86U90 + + + + + 1p34.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 157941 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157941 + Huntington disease-like 1 + + Disease + + + Disorder + + + + 11593450[PMID]_24275071[PMID] + + prion protein (Kanno blood group) + PRNP + + AltPrP + CD230 + Creutzfeldt-Jakob disease + Gerstmann-Strausler-Scheinker syndrome + PRP + fatal familial insomnia + p27-30 + + + gene with protein product + + + + ClinVar + PRNP + + + Ensembl + ENSG00000171867 + + + Genatlas + PRNP + + + HGNC + 9449 + + + OMIM + 176640 + + + Reactome + P04156 + + + SwissProt + P04156 + + + + + 20p13 + 1 + + + + + Disease-causing 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P55895 + + + + + 11p12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 157973 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157973 + Congenital muscular dystrophy due to LMNA mutation + + Disease + + + Disorder + + + + 18551513[PMID] + + lamin A/C + LMNA + + HGPS + MADA + mandibuloacral dysplasia type A + progerin + + + gene with protein product + + + + ClinVar + LMNA + + + Ensembl + ENSG00000160789 + + + Genatlas + LMNA + + + HGNC + 6636 + + + OMIM + 150330 + + + Reactome + P02545 + + + SwissProt + P02545 + + + + + 1q22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2084 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2084 + Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome + + Malformation syndrome + + + Disorder + + + + + + fibrillin 1 + FBN1 + + MASS + Marfan syndrome + OCTD + SGS + asprosin + + + gene with protein product + + + + ClinVar + FBN1 + + + Ensembl + ENSG00000166147 + + + Genatlas + FBN1 + + + HGNC + 3603 + + + OMIM + 134797 + + + Reactome + P35555 + + + SwissProt + P35555 + + + + + 15q21.1 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 157965 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157965 + SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome + + Clinical subtype + + + Subtype of disorder + + + + 18513683[PMID] + + solute carrier family 39 member 13 + SLC39A13 + + ZRT/IRT-like protein 13 + LIV-1 subfamily of ZIP zinc transporters human member 9 + FLJ25785 + ZIP-13 + zinc transporter 13 + Zinc transporter ZIP13 + LZT-Hs9 + ZIP13 + + + gene with protein product + + + + ClinVar + SLC39A13 + + + IUPHAR + 1192 + + + Ensembl + ENSG00000165915 + + + Genatlas + SLC39A13 + + + HGNC + 20859 + + + OMIM + 608735 + + + SwissProt + Q96H72 + + + + + 11p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1826 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1826 + Frontometaphyseal dysplasia + + Disease + + + Disorder + + + + 27426733[PMID] + + mitogen-activated protein kinase kinase kinase 7 + MAP3K7 + + MEKK7 + TGF-beta activated kinase 1 + + + gene with protein product + + + + ClinVar + MAP3K7 + + + HGNC + 6859 + + + OMIM + 602614 + + + Genatlas + MAP3K7 + + + SwissProt + O43318 + + + Reactome + O43318 + + + Ensembl + ENSG00000135341 + + + IUPHAR + 2082 + + + + + 6q15 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 16596676[PMID]_16835913[PMID]_20301567[PMID] + + filamin A + FLNA + + ABP-280 + actin binding protein 280 + alpha filamin + + + gene with protein product + + + + Ensembl + ENSG00000196924 + + + Genatlas + FLNA + + + HGNC + 3754 + + + OMIM + 300017 + + + Reactome + P21333 + + + SwissProt + P21333 + + + ClinVar + FLNA + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 2050 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2050 + Cole-Carpenter syndrome + + Malformation syndrome + + + Disorder + + + + 25683117[PMID] + + prolyl 4-hydroxylase subunit beta + P4HB + + DSI + GIT + P4Hbeta + PDI + PDIA1 + PO4HB + PROHB + collagen prolyl 4-hydroxylase beta + protein disulfide isomerase family A, member 1 + protein disulfide isomerase-associated 1 + + + gene with protein product + + + + ClinVar + P4HB + + + Ensembl + ENSG00000185624 + + + Genatlas + P4HB + + + HGNC + 8548 + + + OMIM + 176790 + + + Reactome + P07237 + + + SwissProt + P07237 + + + + + 17q25.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 25683121[PMID] + + SEC24 homolog D, COPII component + SEC24D + + KIAA0755 + + + gene with protein product + + + + Ensembl + ENSG00000150961 + + + Genatlas + SEC24D + + + HGNC + 10706 + + + OMIM + 607186 + + + Reactome + O94855 + + + SwissProt + O94855 + + + ClinVar + SEC24D + + + + + 4q26 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 30462379[PMID] + + cartilage associated protein + CRTAP + + CASP + LEPREL3 + P3H5 + leprecan-like 3 + prolyl 3-hydroxylase family member 5 (non-enzymatic) + + + gene with protein product + + + + ClinVar + CRTAP + + + Ensembl + ENSG00000170275 + + + Genatlas + CRTAP + + + HGNC + 2379 + + + OMIM + 605497 + + + Reactome + O75718 + + + SwissProt + O75718 + + + + + 3p22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2059 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2059 + Fryns syndrome + + Malformation syndrome + + + Disorder + + + + 27038415[PMID] + + phosphatidylinositol glycan anchor biosynthesis class N + PIGN + + MDC4 + PIG-N + MCD4 + GPI ethanolamine phosphate transferase 1 + + + gene with protein product + + + + ClinVar + PIGN + + + Ensembl + ENSG00000197563 + + + Genatlas + PIGN + + + HGNC + 8967 + + + OMIM + 606097 + + + Reactome + O95427 + + + SwissProt + O95427 + + + + + 18q21.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2026 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2026 + Gingival fibromatosis-hypertrichosis syndrome + + Malformation syndrome + + + Disorder + + + + 24831815[PMID] + + ATP binding cassette subfamily A member 5 + ABCA5 + + EST90625 + + + gene with protein product + + + + Reactome + Q8WWZ7 + + + ClinVar + ABCA5 + + + Ensembl + ENSG00000154265 + + + Genatlas + ABCA5 + + + HGNC + 35 + + + OMIM + 612503 + + + SwissProt + Q8WWZ7 + + + IUPHAR + 760 + + + + + 17q24.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 2028 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028 + Juvenile hyaline fibromatosis + + Clinical subtype + + + Subtype of disorder + + + + 14508707[PMID] + + ANTXR cell adhesion molecule 2 + ANTXR2 + + CMG-2 + CMG2 + FLJ31074 + capillary morphogenesis protein 2 + + + gene with protein product + + + + ClinVar + ANTXR2 + + + Ensembl + ENSG00000163297 + + + Genatlas + ANTXR2 + + + HGNC + 21732 + + + OMIM + 608041 + + + Reactome + P58335 + + + SwissProt + P58335 + + + + + 4q21.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2021 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2021 + Fibrochondrogenesis + + Disease + + + Disorder + + + + 21035103[PMID] + + collagen type XI alpha 1 chain + COL11A1 + + CO11A1 + STL2 + collagen XI, alpha-1 polypeptide + + + gene with protein product + + + + ClinVar + COL11A1 + + + Ensembl + ENSG00000060718 + + + Genatlas + COL11A1 + + + HGNC + 2186 + + + OMIM + 120280 + + + Reactome + P12107 + + + SwissProt + P12107 + + + + + 1p21.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 22246659[PMID] + + collagen type XI alpha 2 chain + COL11A2 + + HKE5 + + + gene with protein product + + + + ClinVar + COL11A2 + + + Ensembl + ENSG00000204248 + + + Genatlas + COL11A2 + + + HGNC + 2187 + + + OMIM + 120290 + + + Reactome + P13942 + + + SwissProt + P13942 + + + + + 6p21.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2024 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2024 + Hereditary gingival fibromatosis + + Malformation syndrome + + + Disorder + + + + 11386754[PMID] + + gingival fibromatosis, hereditary, 2 + GINGF2 + + GGF2 + HGF2 + + + Disorder-associated locus + + + + HGNC + 14252 + + + + + 5q13-q22 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 11868160[PMID] + + SOS Ras/Rac guanine nucleotide exchange factor 1 + SOS1 + + GF1 + HGF + + + gene with protein product + + + + ClinVar + SOS1 + + + IUPHAR + 3096 + + + Ensembl + ENSG00000115904 + + + Genatlas + SOS1 + + + HGNC + 11187 + + + OMIM + 182530 + + + Reactome + Q07889 + + + SwissProt + Q07889 + + + + + 2p22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 28686854[PMID] + + RE1 silencing transcription factor + REST + + NRSF + XBR + neuron-restrictive silencer factor + + + gene with protein product + + + + Ensembl + ENSG00000084093 + + + Genatlas + REST + + + HGNC + 9966 + + + OMIM + 600571 + + + Reactome + Q13127 + + + SwissProt + Q13127 + + + ClinVar + REST + + + + + 4q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2044 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2044 + Floating-Harbor syndrome + + Malformation syndrome + + + Disorder + + + + 22965468[PMID] + + Snf2 related CREBBP activator protein + SRCAP + + DOMO1 + Domino homolog 1 (Drosophila) + EAF1 + KIAA0309 + SWR1 + Swi2/Snf2-related ATPase homolog (S. cerevisiae) + domino homolog 1 (Drosophila) + + + gene with protein product + + + + ClinVar + SRCAP + + + Ensembl + ENSG00000080603 + + + Genatlas + SRCAP + + + HGNC + 16974 + + + OMIM + 611421 + + + SwissProt + Q6ZRS2 + + + + + 16p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2036 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2036 + Scalp-ear-nipple syndrome + + Malformation syndrome + + + Disorder + + + + 23541344[PMID] + + potassium channel tetramerization domain containing 1 + KCTD1 + + + + gene with protein product + + + + ClinVar + KCTD1 + + + SwissProt + Q719H9 + + + Ensembl + ENSG00000134504 + + + Genatlas + KCTD1 + + + HGNC + 18249 + + + OMIM + 613420 + + + Reactome + Q719H9 + + + + + 18q11.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 158769 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158769 + Plaque-form urticaria pigmentosa + + Clinical subtype + + + Subtype of disorder + + + + 11505412[PMID] + + KIT proto-oncogene, receptor tyrosine kinase + KIT + + C-Kit + CD117 + SCFR + mast/stem cell growth factor receptor Kit + + + gene with protein product + + + + ClinVar + KIT + + + Ensembl + ENSG00000157404 + + + Genatlas + KIT + + + HGNC + 6342 + + + IUPHAR + 1805 + + + OMIM + 164920 + + + Reactome + P10721 + + + SwissProt + P10721 + + + + + 4q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 158766 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158766 + Typical urticaria pigmentosa + + Clinical subtype + + + Subtype of disorder + + + + 11505412[PMID] + + KIT proto-oncogene, receptor tyrosine kinase + KIT + + C-Kit + CD117 + SCFR + mast/stem cell growth factor receptor Kit + + + gene with protein product + + + + ClinVar + KIT + + + Ensembl + ENSG00000157404 + + + Genatlas + KIT + + + HGNC + 6342 + + + IUPHAR + 1805 + + + OMIM + 164920 + + + Reactome + P10721 + + + SwissProt + P10721 + + + + + 4q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 158687 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158687 + Lethal acantholytic erosive disorder + + Disease + + + Disorder + + + + 16175511[PMID]_20302578[PMID] + + desmoplakin + DSP + + DP + DPI + DPII + KPPS2 + PPKS2 + + + gene with protein product + + + + ClinVar + DSP + + + Ensembl + ENSG00000096696 + + + Genatlas + DSP + + + HGNC + 3052 + + + OMIM + 125647 + + + Reactome + P15924 + + + SwissProt + P15924 + + + + + 6p24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21320868[PMID] + + junction plakoglobin + JUP + + DP3 + DPIII + PDGB + PKGB + PG + desmosomal protein 3 + + + gene with protein product + + + + HGNC + 6207 + + + OMIM + 173325 + + + Reactome + P14923 + + + SwissProt + P14923 + + + Ensembl + ENSG00000173801 + + + Genatlas + JUP + + + ClinVar + JUP + + + + + 17q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 158684 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158684 + Epidermolysis bullosa simplex with pyloric atresia + + Disease + + + Disorder + + + + 20052759[PMID]_20301336[PMID] + + plectin + PLEC + + PCN + PLTN + + + gene with protein product + + + + Ensembl + ENSG00000178209 + + + Genatlas + PLEC + + + HGNC + 9069 + + + OMIM + 601282 + + + Reactome + Q15149 + + + SwissProt + Q15149 + + + ClinVar + PLEC + + + + + 8q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + integrin subunit beta 4 + ITGB4 + + CD104 + + + gene with protein product + + + + ClinVar + ITGB4 + + + Ensembl + ENSG00000132470 + + + Genatlas + ITGB4 + + + HGNC + 6158 + + + OMIM + 147557 + + + Reactome + P16144 + + + SwissProt + P16144 + + + IUPHAR + 2458 + + + + + 17q25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 158681 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158681 + Epidermolysis bullosa simplex with circinate migratory erythema + + Disease + + + Disorder + + + + 12925204[PMID] + + keratin 5 + KRT5 + + KRT5A + CK-5 + + + gene with protein product + + + + ClinVar + KRT5 + + + Ensembl + ENSG00000186081 + + + Genatlas + KRT5 + + + HGNC + 6442 + + + OMIM + 148040 + + + Reactome + P13647 + + + SwissProt + P13647 + + + + + 12q13.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 158676 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158676 + Localized dystrophic epidermolysis bullosa, nails only + + Clinical subtype + + + Subtype of disorder + + + + + + collagen type VII alpha 1 chain + COL7A1 + + LC collagen + collagen VII, alpha-1 polypeptide + + + gene with protein product + + + + ClinVar + COL7A1 + + + Ensembl + ENSG00000114270 + + + Genatlas + COL7A1 + + + HGNC + 2214 + + + OMIM + 120120 + + + Reactome + Q02388 + + + SwissProt + Q02388 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 158673 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158673 + Localized dystrophic epidermolysis bullosa, acral form + + Clinical subtype + + + Subtype of disorder + + + + + + collagen type VII alpha 1 chain + COL7A1 + + LC collagen + collagen VII, alpha-1 polypeptide + + + gene with protein product + + + + ClinVar + COL7A1 + + + Ensembl + ENSG00000114270 + + + Genatlas + COL7A1 + + + HGNC + 2214 + + + OMIM + 120120 + + + Reactome + Q02388 + + + SwissProt + Q02388 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 158668 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158668 + Ectodermal dysplasia-skin fragility syndrome + + Disease + + + Disorder + + + + 19945625[PMID] + + plakophilin 1 + PKP1 + + B6P + ectodermal dysplasia/skin fragility syndrome + + + gene with protein product + + + + ClinVar + PKP1 + + + Ensembl + ENSG00000081277 + + + Genatlas + PKP1 + + + HGNC + 9023 + + + OMIM + 601975 + + + Reactome + Q13835 + + + SwissProt + Q13835 + + + + + 1q32.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 158778 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158778 + Isolated bone marrow mastocytosis + + Disease + + + Disorder + + + + + + KIT proto-oncogene, receptor tyrosine kinase + KIT + + C-Kit + CD117 + SCFR + mast/stem cell growth factor receptor Kit + + + gene with protein product + + + + ClinVar + KIT + + + Ensembl + ENSG00000157404 + + + Genatlas + KIT + + + HGNC + 6342 + + + IUPHAR + 1805 + + + OMIM + 164920 + + + Reactome + P10721 + + + SwissProt + P10721 + + + + + 4q12 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 158775 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158775 + Smoldering systemic mastocytosis + + Disease + + + Disorder + + + + + + KIT proto-oncogene, receptor tyrosine kinase + KIT + + C-Kit + CD117 + SCFR + mast/stem cell growth factor receptor Kit + + + gene with protein product + + + + ClinVar + KIT + + + Ensembl + ENSG00000157404 + + + Genatlas + KIT + + + HGNC + 6342 + + + IUPHAR + 1805 + + + OMIM + 164920 + + + Reactome + P10721 + + + SwissProt + P10721 + + + + + 4q12 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 158772 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158772 + Nodular urticaria pigmentosa + + Clinical subtype + + + Subtype of disorder + + + + 11505412[PMID] + + KIT proto-oncogene, receptor tyrosine kinase + KIT + + C-Kit + CD117 + SCFR + mast/stem cell growth factor receptor Kit + + + gene with protein product + + + + ClinVar + KIT + + + Ensembl + ENSG00000157404 + + + Genatlas + KIT + + + HGNC + 6342 + + + IUPHAR + 1805 + + + OMIM + 164920 + + + Reactome + P10721 + + + SwissProt + P10721 + + + + + 4q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1986 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986 + Gollop-Wolfgang complex + + Malformation syndrome + + + Disorder + + + + 25351291[PMID] + + basic helix-loop-helix family member a9 + BHLHA9 + + BHLHF42 + Fingerin + bHLHa9 + + + gene with protein product + + + + ClinVar + BHLHA9 + + + Ensembl + ENSG00000205899 + + + Genatlas + BHLHA9 + + + HGNC + 35126 + + + OMIM + 615416 + + + SwissProt + Q7RTU4 + + + + + 17p13.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 1980 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1980 + Bilateral striopallidodentate calcinosis + + Disease + + + Disorder + + + + 38480682[PMID] + + N-alpha-acetyltransferase 60, NatF catalytic subunit + NAA60 + + HAT4 + N-acetyltransferase 15 + Histone acetyltransferase type B protein 4 + N-alpha-acetyltransferase F + NatF + hNaa60 + FLJ14154 + + + gene with protein product + + + + Ensembl + ENSG00000122390 + + + OMIM + 614246 + + + SwissProt + Q9H7X0 + + + HGNC + 25875 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 36443312[PMID] + + cytidine/uridine monophosphate kinase 2 + CMPK2 + + NDK + UMP-CMPK2 + UMP/CMP kinase + cytidylate kinase 2 + nucleoside-diphosphate kinase + TYKi + + + gene with protein product + + + + Ensembl + ENSG00000134326 + + + OMIM + 611787 + + + SwissProt + Q5EBM0 + + + HGNC + 27015 + + + + + 2p25.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 31851307[PMID] + + junctional adhesion molecule 2 + JAM2 + + JAM-2 + VE-JAM + JAM-B + JAMB + CD322 + junctional adhesion molecule B + vascular endothelial junction-associated molecule + + + gene with protein product + + + + HGNC + 14686 + + + Ensembl + ENSG00000154721 + + + SwissProt + P57087 + + + Reactome + P57087 + + + OMIM + 606870 + + + + + 21q21.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 30649222[PMID] + + myogenesis regulating glycosidase + MYORG + + NET37 + + + gene with protein product + + + + HGNC + 19918 + + + Ensembl + ENSG00000164976 + + + SwissProt + Q6NSJ0 + + + OMIM + 618255 + + + + + 9p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23255827[PMID]_20301594[PMID] + + platelet derived growth factor receptor beta + PDGFRB + + CD140b + JTK12 + PDGFR1 + + + gene with protein product + + + + ClinVar + PDGFRB + + + Ensembl + ENSG00000113721 + + + Genatlas + PDGFRB + + + HGNC + 8804 + + + IUPHAR + 1804 + + + OMIM + 173410 + + + Reactome + P09619 + + + SwissProt + P09619 + + + + + 5q32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23913003[PMID]_20301594[PMID] + + platelet derived growth factor subunit B + PDGFB + + SSV + becaplermin + oncogene SIS + + + gene with protein product + + + + ClinVar + PDGFB + + + Ensembl + ENSG00000100311 + + + Genatlas + PDGFB + + + HGNC + 8800 + + + OMIM + 190040 + + + Reactome + P01127 + + + SwissProt + P01127 + + + + + 22q13.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 22327515[PMID]_20301594[PMID] + + solute carrier family 20 member 2 + SLC20A2 + + Glvr-2 + PiT-2 + Ram-1 + PIT2 + gibbon ape leukemia virus receptor 2 + Sodium-dependent phosphate transporter 2 + + + gene with protein product + + + + OMIM + 158378 + + + Reactome + Q08357 + + + SwissProt + Q08357 + + + Ensembl + ENSG00000168575 + + + Genatlas + SLC20A2 + + + HGNC + 10947 + + + IUPHAR + 1018 + + + ClinVar + SLC20A2 + + + + + 8p11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 25938945[PMID] + + xenotropic and polytropic retrovirus receptor 1 + XPR1 + + SYG1 + X3 + SLC53A1 + solute carrier family 53 (phosphate exporter), member 1 + + + gene with protein product + + + + ClinVar + XPR1 + + + Ensembl + ENSG00000143324 + + + Genatlas + XPR1 + + + HGNC + 12827 + + + OMIM + 605237 + + + SwissProt + Q9UBH6 + + + IUPHAR + 3021 + + + + + 1q25.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1997 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1997 + Blepharo-cheilo-odontic syndrome + + Malformation syndrome + + + Disorder + + + + 28301459[PMID] + + catenin delta 1 + CTNND1 + + p120cas + p120ctn + p120 + KIAA0384 + + + gene with protein product + + + + HGNC + 2515 + + + OMIM + 601045 + + + SwissProt + O60716 + + + Ensembl + ENSG00000198561 + + + Reactome + O60716 + + + Genatlas + CTNND1 + + + ClinVar + CTNND1 + + + + + 11q12.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 28301459[PMID] + + cadherin 1 + CDH1 + + CD324 + E-Cadherin + uvomorulin + + + gene with protein product + + + + Ensembl + ENSG00000039068 + + + Genatlas + CDH1 + + + HGNC + 1748 + + + OMIM + 192090 + + + Reactome + P12830 + + + SwissProt + P12830 + + + ClinVar + CDH1 + + + + + 16q22.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 2348 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2348 + Familial partial lipodystrophy, Dunnigan type + + Disease + + + Disorder + + + + 10739751[PMID]_10587585[PMID] + + lamin A/C + LMNA + + HGPS + MADA + mandibuloacral dysplasia type A + progerin + + + gene with protein product + + + + ClinVar + LMNA + + + Ensembl + ENSG00000160789 + + + Genatlas + LMNA + + + HGNC + 6636 + + + OMIM + 150330 + + + Reactome + P02545 + + + SwissProt + P02545 + + + + + 1q22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 247768 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247768 + Müllerian aplasia and hyperandrogenism + + Malformation syndrome + + + Disorder + + + + 16959810[PMID]_18182450[PMID] + + Wnt family member 4 + WNT4 + + WNT-4 + + + gene with protein product + + + + ClinVar + WNT4 + + + Ensembl + ENSG00000162552 + + + Genatlas + WNT4 + + + HGNC + 12783 + + + OMIM + 603490 + + + Reactome + P56705 + + + SwissProt + P56705 + + + + + 1p36.12 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 2353 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2353 + Schilbach-Rott syndrome + + Malformation syndrome + + + Disorder + + + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247798 + MUTYH-related polyposis + + Disease + + + Disorder + + + + 17489848[PMID] + + mutY DNA glycosylase + MUTYH + + MYH + + + gene with protein product + + + + ClinVar + MUTYH + + + Ensembl + ENSG00000132781 + + + Genatlas + MUTYH + + + HGNC + 7527 + + + OMIM + 604933 + + + Reactome + Q9UIF7 + + + SwissProt + Q9UIF7 + + + + + 1p34.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 247794 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247794 + Juvenile cataract-microcornea-renal glucosuria syndrome + + Disease + + + Disorder + + + + 18304496[PMID] + + solute carrier family 16 member 12 + SLC16A12 + + creatine transporter 2 + MCT12 + monocarboxylic acid transporter 12 + CRT2 + + + gene with protein product + + + + Ensembl + ENSG00000152779 + + + Genatlas + SLC16A12 + + + HGNC + 23094 + + + OMIM + 611910 + + + SwissProt + Q6ZSM3 + + + IUPHAR + 999 + + + ClinVar + SLC16A12 + + + 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247691 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247691 + Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations + + Disease + + + Disorder + + + + 17660820[PMID]_18583934[PMID]_20876473[PMID] + + three prime repair exonuclease 1 + TREX1 + + DRN3 + + + gene with protein product + + + + Genatlas + TREX1 + + + HGNC + 12269 + + + OMIM + 606609 + + + Reactome + Q9NSU2 + + + SwissProt + Q9NSU2 + + + Ensembl + ENSG00000213689 + + + ClinVar + TREX1 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2340 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2340 + Keratosis follicularis spinulosa decalvans + + Disease + + + Disorder + + + + 20672378[PMID] + + membrane bound transcription factor peptidase, site 2 + MBTPS2 + + sterol regulatory element-binding proteins intramembrane protease + S2P + site-2 protease + + + gene with protein product + + + + Ensembl + ENSG00000012174 + + + Genatlas + MBTPS2 + + + HGNC + 15455 + + + OMIM + 300294 + + + Reactome + O43462 + + + SwissProt + O43462 + + + ClinVar + MBTPS2 + + + + + Xp22.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 12215835[PMID] + + spermidine/spermine N1-acetyltransferase 1 + SAT1 + + SSAT + diamine N-acetyltransferase 1 + + + gene with protein product + + + + Ensembl + ENSG00000130066 + + + Genatlas + SAT1 + + + HGNC + 10540 + + + OMIM + 313020 + + + Reactome + P21673 + + + SwissProt + P21673 + + + ClinVar + SAT1 + + + + + Xp22.11 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 26142438[PMID] + + LDL receptor related protein 1 + LRP1 + + APOER + CD91 + LRP + LRP1A + transforming growth factor-alpha receptor type V + transforming growth factor-ß receptor type V + transforming growth factor-β receptor type V + + + gene with protein product + + + + Ensembl + ENSG00000123384 + + + Genatlas + LRP1 + + + HGNC + 6692 + + + OMIM + 107770 + + + Reactome + Q07954 + + + SwissProt + Q07954 + + + ClinVar + LRP1 + + + + + 12q13.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 247685 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247685 + Odontohypophosphatasia + + Clinical subtype + + + Subtype of disorder + + + + 10737975[PMID]_17916236[PMID]_20301329[PMID] + + alkaline phosphatase, biomineralization associated + ALPL + + TNSALP + TNALP + tissue non-specific alkaline phosphatase + TNAP + + + gene with protein product + + + + SwissProt + P05186 + + + Ensembl + ENSG00000162551 + + + Genatlas + ALPL + + + HGNC + 438 + + + OMIM + 171760 + + + Reactome + P05186 + + + ClinVar + ALPL + + + + + 1p36.12 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 247709 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247709 + Multiple endocrine neoplasia type 2B + + Clinical subtype + + + Subtype of disorder + + + + 20833330[PMID]_20301434[PMID] + + ret proto-oncogene + RET + + CDHF12 + CDHR16 + PTC + RET receptor tyrosine kinase + RET51 + cadherin-related family member 16 + rearranged during transfection + + + gene with protein product + + + + ClinVar + RET + + + Ensembl + ENSG00000165731 + + + Genatlas + RET + + + HGNC + 9967 + + + IUPHAR + 2185 + + + OMIM + 164761 + + + SwissProt + P07949 + + + Reactome + P07949 + + + + + 10q11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2342 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2342 + Haim-Munk syndrome + + Disease + + + Disorder + + + + 10662807[PMID] + + cathepsin C + CTSC + + DPP1 + dipeptidyl peptidase 1 + + + gene with protein product + + + + ClinVar + CTSC + + + Ensembl + ENSG00000109861 + + + Genatlas + CTSC + + + HGNC + 2528 + + + IUPHAR + 2344 + + + OMIM + 602365 + + + Reactome + P53634 + + + SwissProt + P53634 + + + + + 11q14.2 + 1 + + + + + Disease-causing germline mutation(s) in + + 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+ + Genatlas + COL2A1 + + + HGNC + 2200 + + + OMIM + 120140 + + + Reactome + P02458 + + + SwissProt + P02458 + + + + + 12q13.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 247585 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247585 + Citrullinemia type II + + Disease + + + Disorder + + + + 20301360[PMID] + + solute carrier family 25 member 13 + SLC25A13 + + ARALAR2 + CITRIN + mitochondrial aspartate glutamate carrier 2 + Calcium-binding mitochondrial carrier protein Aralar2 + citrullinemia type II + + + gene with protein product + + + + IUPHAR + 1055 + + + Ensembl + ENSG00000004864 + + + Genatlas + SLC25A13 + + + HGNC + 10983 + + + OMIM + 603859 + + + Reactome + Q9UJS0 + + + SwissProt + Q9UJS0 + + + ClinVar + SLC25A13 + + + + + 7q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 247598 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247598 + Neonatal intrahepatic cholestasis due to citrin deficiency + + Disease + + + Disorder + + + + 20301360[PMID] + + solute carrier family 25 member 13 + SLC25A13 + + ARALAR2 + CITRIN + mitochondrial aspartate glutamate carrier 2 + Calcium-binding mitochondrial carrier protein Aralar2 + citrullinemia type II + + + gene with protein product + + + + IUPHAR + 1055 + + + Ensembl + ENSG00000004864 + + + Genatlas + SLC25A13 + + + HGNC + 10983 + + + OMIM + 603859 + + + Reactome + Q9UJS0 + + + SwissProt + Q9UJS0 + + + ClinVar + SLC25A13 + + + + + 7q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2332 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2332 + KBG syndrome + + Malformation syndrome + + + Disorder + + + + 21782149[PMID]_23184435[PMID] + + ankyrin repeat domain 11 + ANKRD11 + + LZ16 + T13 + ankyrin repeats containing cofactor 1 + ANCO-1 + ANCO1 + + + gene with protein product + + + + ClinVar + ANKRD11 + + + Ensembl + ENSG00000167522 + + + Genatlas + ANKRD11 + + + HGNC + 21316 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mutation(s) (loss of function) in + + + Assessed + + + + + + 247623 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247623 + Perinatal lethal hypophosphatasia + + Clinical subtype + + + Subtype of disorder + + + + 10737975[PMID]_17916236[PMID]_20301329[PMID] + + alkaline phosphatase, biomineralization associated + ALPL + + TNSALP + TNALP + tissue non-specific alkaline phosphatase + TNAP + + + gene with protein product + + + + SwissProt + P05186 + + + Ensembl + ENSG00000162551 + + + Genatlas + ALPL + + + HGNC + 438 + + + OMIM + 171760 + + + Reactome + P05186 + + + ClinVar + ALPL + + + + + 1p36.12 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 247638 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247638 + Prenatal benign hypophosphatasia + + Clinical subtype + + + Subtype of disorder + + + + 10737975[PMID]_17916236[PMID]_20301329[PMID] + + alkaline phosphatase, biomineralization associated + ALPL + + TNSALP + TNALP + tissue non-specific alkaline phosphatase + TNAP + + + gene with protein product + + + + SwissProt + P05186 + + + Ensembl + ENSG00000162551 + + + Genatlas + ALPL + + + HGNC + 438 + + + OMIM + 171760 + + + Reactome + P05186 + + + ClinVar + ALPL + + + + + 1p36.12 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 2337 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2337 + Diffuse palmoplantar keratoderma, Bothnian type + + Disease + + + Disorder + + + + 23830519[PMID] + + aquaporin 5 + AQP5 + + + + gene with protein product + + + + Ensembl + ENSG00000161798 + + + Genatlas + AQP5 + + + HGNC + 638 + + + OMIM + 600442 + + + Reactome + P55064 + + + SwissProt + P55064 + + + IUPHAR + 692 + + + ClinVar + AQP5 + + + + + 12q13.12 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 247651 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247651 + Infantile hypophosphatasia + + Clinical subtype + + + Subtype of disorder + + + + 10737975[PMID]_17916236[PMID]_20301329[PMID] + + alkaline phosphatase, biomineralization associated + ALPL + + TNSALP + TNALP + tissue non-specific alkaline phosphatase + TNAP + + + gene with protein product + + + + SwissProt + P05186 + + + Ensembl + ENSG00000162551 + + + Genatlas + ALPL + + + HGNC + 438 + + + OMIM + 171760 + + + Reactome + P05186 + + + ClinVar + ALPL + + + + + 1p36.12 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 247667 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247667 + Childhood-onset hypophosphatasia + + Clinical subtype + + + Subtype of disorder + + + + 10737975[PMID]_17916236[PMID]_20301329[PMID] + + alkaline phosphatase, biomineralization associated + ALPL + + TNSALP + TNALP + tissue non-specific alkaline phosphatase + TNAP + + + gene with protein product + + + + SwissProt + P05186 + + + Ensembl + ENSG00000162551 + + + Genatlas + ALPL + + + HGNC + 438 + + + OMIM + 171760 + + + Reactome + P05186 + + + ClinVar + ALPL + + + + + 1p36.12 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 247676 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247676 + Adult hypophosphatasia + + Clinical subtype + + + Subtype of disorder + + + + 10737975[PMID]_17916236[PMID]_20301329[PMID] + + alkaline phosphatase, biomineralization associated + ALPL + + TNSALP + TNALP + tissue non-specific alkaline phosphatase + TNAP + + + gene with protein product + + + + SwissProt + P05186 + + + Ensembl + ENSG00000162551 + + + Genatlas + ALPL + + + HGNC + 438 + + + OMIM + 171760 + + + Reactome + P05186 + + + ClinVar + ALPL + + + + + 1p36.12 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 494 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494 + Keratoderma hereditarium mutilans + + Disease + + + Disorder + + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247511 + Autosomal dominant secondary polycythemia + + Disease + + + Disorder + + + + 29514032[PMID] + + erythropoietin + EPO + + EP + + + gene with protein product + + + + Reactome + P01588 + + + SwissProt + P01588 + + + Genatlas + EPO + + + Ensembl + ENSG00000130427 + + + OMIM + 133170 + + + HGNC + 3415 + + + ClinVar + EPO + + + + + 7q22.1 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 16407130[PMID]_24115288[PMID] + + egl-9 family hypoxia inducible factor 1 + EGLN1 + + HIF prolyl hydroxylase 2 + HIFPH2 + PHD2 + SM-20 + ZMYND6 + + + gene with protein product + + + + Genatlas + EGLN1 + + + HGNC + 1232 + + + OMIM + 606425 + + + Reactome + Q9GZT9 + + + SwissProt + Q9GZT9 + + + Ensembl + ENSG00000135766 + + + ClinVar + EGLN1 + + + IUPHAR + 2833 + + + + + 1q42.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 18184961[PMID]_24115288[PMID] + + endothelial PAS domain protein 1 + EPAS1 + + HIF-1 alpha-like factor + HIF2A + HLF + MOP2 + PASD2 + bHLHe73 + + + gene with protein product + + + + IUPHAR + 3148 + + + ClinVar + EPAS1 + + + OMIM + 603349 + + + Reactome + Q99814 + + + SwissProt + Q99814 + + + Ensembl + ENSG00000116016 + + + Genatlas + EPAS1 + + + HGNC + 3374 + + + + + 2p21 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 34440325[PMID] + + hemoglobin subunit alpha 1 + HBA1 + + HBA-T3 + + + gene with protein product + + + + ClinVar + HBA1 + + + Ensembl + ENSG00000206172 + + + Genatlas + HBA1 + + + HGNC + 4823 + + + OMIM + 141800 + + + Reactome + P69905 + + + SwissProt + P69905 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 34440325[PMID] + + hemoglobin subunit alpha 2 + HBA2 + + HBA-T2 + + + gene with protein product + + + + ClinVar + HBA2 + + + Ensembl + ENSG00000188536 + + + Genatlas + HBA2 + 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603470 + + + Reactome + P00966 + + + SwissProt + P00966 + + + + + 9q34.11 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 247573 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247573 + Late-onset citrullinemia type I + + Clinical subtype + + + Subtype of disorder + + + + 20301631[PMID] + + argininosuccinate synthase 1 + ASS1 + + CTLN1 + + + gene with protein product + + + + ClinVar + ASS1 + + + Ensembl + ENSG00000130707 + + + Genatlas + ASS1 + + + HGNC + 758 + + + OMIM + 603470 + + + Reactome + P00966 + + + SwissProt + P00966 + + + + + 9q34.11 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 2407 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2407 + Laryngo-onycho-cutaneous syndrome + + Disease + + + Disorder + + + + 12915477[PMID]_23869449[PMID] + + laminin subunit alpha 3 + LAMA3 + + kalinin-165kDa + nicein-150kDa + BM600-150kDa + epiligrin + + + gene with protein product + + + + ClinVar + LAMA3 + + + Ensembl + ENSG00000053747 + + + Genatlas + LAMA3 + + + HGNC + 6483 + + + OMIM + 600805 + + + Reactome + Q16787 + + + SwissProt + Q16787 + + + + + 18q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2412 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2412 + Dislocation of the hip-dysmorphism syndrome + + Malformation syndrome + + + Disorder + + + + 39054052[PMID] + + tripartite motif containing 33 + TRIM33 + + FLJ11429 + KIAA1113 + PTC7 + RFG7 + TF1G + TIF1G + TIF1GAMMA + TIFGAMMA + ret-fused gene 7 + transcriptional intermediary factor 1 gamma + + + gene with protein product + + + + Ensembl + ENSG00000197323 + + + Genatlas + TRIM33 + + + HGNC + 16290 + + + IUPHAR + 2254 + + + OMIM + 605769 + + + Reactome + Q9UPN9 + + + ClinVar + TRIM33 + + + SwissProt + Q9UPN9 + + + + + 1p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 248408 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248408 + Familial hypodysfibrinogenemia + + Clinical subtype + + + Subtype of disorder + + + + 14615374[PMID] + + fibrinogen alpha chain + FGA + + + + gene with protein product + + + + ClinVar + FGA + + + Ensembl + ENSG00000171560 + + + Genatlas + FGA + + + HGNC + 3661 + + + OMIM + 134820 + + + Reactome + P02671 + + + SwissProt + P02671 + + + + + 4q31.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22955321[PMID] + + fibrinogen beta chain + FGB + + + + gene with protein product + + + + ClinVar + FGB + + + Ensembl + ENSG00000171564 + + + Genatlas + FGB + + + HGNC + 3662 + + + OMIM + 134830 + + + Reactome + P02675 + + + SwissProt + P02675 + + + + + 4q31.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 15632207[PMID] + + fibrinogen gamma chain + FGG + + + + gene with protein product + + + + Ensembl + ENSG00000171557 + + + Genatlas + FGG + + + HGNC + 3694 + + + OMIM + 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OMIM + 190070 + + + Reactome + P01116 + + + SwissProt + P01116 + + + + + 12p12.1 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 248340 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248340 + Isolated delta-storage pool disease + + Disease + + + Disorder + + + + 24100448[PMID] + + Fli-1 proto-oncogene, ETS transcription factor + FLI1 + + EWSR2 + SIC-1 + FLI-1 + + + gene with protein product + + + + Reactome + Q01543 + + + ClinVar + FLI1 + + + Ensembl + ENSG00000151702 + + + Genatlas + FLI1 + + + HGNC + 3749 + + + OMIM + 193067 + + + SwissProt + Q01543 + + + + + 11q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2388 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2388 + Choreoacanthocytosis + + Disease + + + Disorder + + + + 20301561[PMID] + + vacuolar protein sorting 13 homolog A + VPS13A + + KIAA0986 + chorein + bridge-like lipid transfer protein family member 5A + BLTP5A + + + gene with 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Phospholipase C δ1 + Phospholipase C d1 + + + gene with protein product + + + + ClinVar + PLCD1 + + + Ensembl + ENSG00000187091 + + + Genatlas + PLCD1 + + + HGNC + 9060 + + + OMIM + 602142 + + + Reactome + P51178 + + + SwissProt + P51178 + + + IUPHAR + 1409 + + + + + 3p22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2379 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2379 + Early-onset parkinsonism-intellectual disability syndrome + + Disease + + + Disorder + + + + 25434005[PMID] + + RAB39B, member RAS oncogene family + RAB39B + + + + gene with protein product + + + + Reactome + Q96DA2 + + + Genatlas + RAB39B + + + HGNC + 16499 + + + OMIM + 300774 + + + SwissProt + Q96DA2 + + + Ensembl + ENSG00000155961 + + + ClinVar + RAB39B + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 247834 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247834 + Occult macular dystrophy + + Disease + + + Disorder + + + + 20826268[PMID] + + RP1 like 1 + RP1L1 + + doublecortin domain containing 4B + DCDC4B + + + gene with protein product + + + + ClinVar + RP1L1 + + + Ensembl + ENSG00000183638 + + + Genatlas + RP1L1 + + + HGNC + 15946 + + + OMIM + 608581 + + + SwissProt + Q8IWN7 + + + + + 8p23.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 247820 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247820 + Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome + + Malformation syndrome + + + Disorder + + + + 20691405[PMID]_21346770[PMID] + + nectin cell adhesion molecule 4 + NECTIN4 + + LNIR + PRR4 + nectin-4 + + + gene with protein product + + + + IUPHAR + 3112 + + + ClinVar + PVRL4 + + + Ensembl + ENSG00000143217 + + + Genatlas + PVRL4 + + + HGNC + 19688 + + + OMIM + 609607 + + + Reactome + Q96NY8 + + + SwissProt + Q96NY8 + + + + + 1q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed 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22938 + + + OMIM + 609648 + + + SwissProt + P59046 + + + IUPHAR + 1779 + + + ClinVar + NLRP12 + + + + + 19q13.42 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2451 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2451 + Mucocutaneous venous malformations + + Malformation syndrome + + + Disorder + + + + 20301733[PMID] + + TEK receptor tyrosine kinase + TEK + + CD202b + TIE-2 + TIE2 + VMCM1 + angiopoietin-1 receptor + + + gene with protein product + + + + Ensembl + ENSG00000120156 + + + Genatlas + TEK + + + HGNC + 11724 + + + IUPHAR + 1842 + + + OMIM + 600221 + + + Reactome + Q02763 + + + SwissProt + Q02763 + + + ClinVar + TEK + + + + + 9p21.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 244305 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244305 + Dominant hypophosphatemia with nephrolithiasis or osteoporosis + + Disease + + + Disorder + + + + 12324554[PMID] + + solute carrier family 34 member 1 + SLC34A1 + + NAPI-3 + NPTIIa + Na+-phosphate cotransporter type II + SLC11 + sodium/phosphate co-transporter + solute carrier family 17 (sodium phosphate), member 2 + + + gene with protein product + + + + IUPHAR + 1135 + + + Ensembl + ENSG00000131183 + + + Genatlas + SLC34A1 + + + HGNC + 11019 + + + OMIM + 182309 + + + Reactome + Q06495 + + + SwissProt + Q06495 + + + ClinVar + SLC34A1 + + + + + 5q35.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 18784102[PMID] + + NHERF family PDZ scaffold protein 1 + NHERF1 + + NHERF-1 + EBP50 + NHERF + NHE-RF + Na(+)/H(+) exchange regulatory cofactor 1 + ezrin-radixin-moesin-binding phosphoprotein 50 + + + gene with protein product + + + + Reactome + O14745 + + + Ensembl + ENSG00000109062 + + + Genatlas + SLC9A3R1 + + + HGNC + 11075 + + + OMIM + 604990 + + + SwissProt + O14745 + + + ClinVar + SLC9A3R1 + + + + + 17q25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 244283 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244283 + Biliary atresia with splenic malformation syndrome + + Malformation syndrome + + + Disorder + + + + 18162845[PMID] + + cryptic, EGF-CFC family member 1 + CFC1 + + CRYPTIC + + + gene with protein product + + + + ClinVar + CFC1 + + + Ensembl + ENSG00000136698 + + + Genatlas + CFC1 + + + HGNC + 18292 + + + OMIM + 605194 + + + Reactome + P0CG37 + + + SwissProt + P0CG37 + + + + + 2q21.1 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 2440 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2440 + Isolated split hand-split foot malformation + + Malformation syndrome + + + Disorder + + + + 28611547[PMID] + + distal-less homeobox 6 + DLX6 + + + + gene with protein product + + + + SwissProt + P56179 + + + OMIM + 600030 + + + Ensembl + ENSG00000006377 + + + Genatlas + DLX6 + + + HGNC + 2919 + + + ClinVar + DLX6 + + + + + 7q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 29023680[PMID] + + epidermal growth factor receptor pathway substrate 15 like 1 + EPS15L1 + + eps15R + + + gene with protein product + + + + ClinVar + EPS15L1 + + + HGNC + 24634 + + + Ensembl + ENSG00000127527 + + + SwissProt + Q9UBC2 + + + OMIM + 616826 + + + Genatlas + EPS15L1 + + + Reactome + Q9UBC2 + + + + + 19p13.11 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 10839977[PMID] + + tumor protein p63 + TP63 + + NBP + OFC8 + SHFM4 + p51 + p53CP + p63 + p73H + p73L + p40 + EEC3 + KET + + + gene with protein product + + + + Ensembl + ENSG00000073282 + + + Genatlas + TP63 + + + HGNC + 15979 + + + OMIM + 603273 + + + Reactome + Q9H3D4 + + + SwissProt + Q9H3D4 + + + ClinVar + TP63 + + + + + 3q28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23169702[PMID] + + SEM1 26S proteasome subunit + SEM1 + + FLJ42280 + DSS1 + ECD + SHSF1 + Shfdg1 + deleted in split-hand/foot 1 + PSMD15 + + + gene with protein product + + + + Ensembl + ENSG00000127922 + + + Genatlas + SHFM1 + + + HGNC + 10845 + + + OMIM + 601285 + + + SwissProt + P60896 + + + Reactome + P60896 + + + ClinVar + SHFM1 + + + + + 7q21.3 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 18515319[PMID]_20635353[PMID] + + Wnt family member 10B + WNT10B + + SHFM6 + WNT-12 + + + gene with protein product + + + + ClinVar + WNT10B + + + Ensembl + ENSG00000169884 + + + Genatlas + WNT10B + + + HGNC + 12775 + + + OMIM + 601906 + + + Reactome + O00744 + + + SwissProt + O00744 + + + + + 12q13.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24496061[PMID] + + distal-less homeobox 5 + DLX5 + + + + gene with protein product + + + + Ensembl + ENSG00000105880 + + + Genatlas + DLX5 + + + HGNC + 2918 + + + OMIM + 600028 + + + SwissProt + P56178 + + + ClinVar + DLX5 + + + + + 7q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24115638[PMID]_16691619[PMID] + + beta-transducin repeat containing E3 ubiquitin protein ligase + BTRC + + FBXW1A + Fwd1 + bTrCP + bTrCP1 + beta-TrCP1 + betaTrCP + + + gene with protein product + + + + Ensembl + ENSG00000166167 + + + Genatlas + BTRC + + + HGNC + 1144 + + + OMIM + 603482 + + + Reactome + Q9Y297 + + + SwissProt + Q9Y297 + + + ClinVar + BTRC + + + + + 10q24.32 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 16235095[PMID] + + F-box and WD repeat domain containing 4 + FBXW4 + + Fbw4 + dactylin + + + gene with protein product + + + + HGNC + 10847 + + + Ensembl + ENSG00000107829 + + + SwissProt + P57775 + + + Reactome + P57775 + + + OMIM + 608071 + + + + + 10q24.32 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 244310 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244310 + RFT1-CDG + + Disease + + + Disorder + + + + 20301507[PMID] + + RFT1 glycolipid translocator homolog + RFT1 + + CDG1N + congenital disorder of glycosylation 1N + SLC76A1 + + + gene with protein product + + + + Ensembl + ENSG00000163933 + + + Genatlas + RFT1 + + + HGNC + 30220 + + + OMIM + 611908 + + + Reactome + Q96AA3 + + + SwissProt + Q96AA3 + + + ClinVar + RFT1 + + + + + 3p21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 244242 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244242 + HELLP syndrome + + Disease + + + Disorder + + + + 17914026[PMID] + + CD46 molecule + CD46 + + MGC26544 + TLX + TRA2.10 + trophoblast-lymphocyte cross-reactive antigen + + + gene with protein product + + + + Ensembl + ENSG00000117335 + + + Genatlas + CD46 + + + HGNC + 6953 + + + OMIM + 120920 + + + Reactome + P15529 + + + SwissProt + P15529 + + + ClinVar + CD46 + + + + + 1q32.2 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 18658028[PMID]_22594569[PMID] + + complement factor H + CFH + + ARMD4 + ARMS1 + FHL1 + H factor 2 (complement) + HUS + age-related maculopathy susceptibility 1 + beta-1H + + + gene with protein product + + + + Ensembl + ENSG00000000971 + + + Genatlas + CFH + + + HGNC + 4883 + + + OMIM + 134370 + + + Reactome + P08603 + + + SwissProt + P08603 + + + ClinVar + CFH + + + + + 1q31.3 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 18658028[PMID]_22594569[PMID] + + complement factor I + CFI + + C3bINA + C3b-INA + C3b-inactivator + FI + KAF + Konglutinogen-activating factor + + + gene with protein product + + + + OMIM + 217030 + + + Reactome + P05156 + + + SwissProt + P05156 + + + Ensembl + ENSG00000205403 + + + Genatlas + CFI + + + HGNC + 5394 + + + ClinVar + CFI + + + + + 4q25 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 23093777[PMID] + + HELLP associated long non-coding RNA + HELLPAR + + LINC-HELLP + Long intergenic non-protein coding RNA associated with HELLP syndrome + long intergenic non-protein coding RNA associated with HELLP syndrome + + + Non-coding RNA + + + + Ensembl + ENSG00000281344 + + + HGNC + 43984 + + + OMIM + 614985 + + + + + 12q23.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 296 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=296 + Ollier disease + + Disease + + + Disorder + + + + 11850620[PMID]_18559376[PMID] + + parathyroid hormone 1 receptor + PTH1R + + + + gene with protein product + + + + ClinVar + PTH1R + + + Reactome + Q03431 + + + SwissProt + Q03431 + + + Ensembl + ENSG00000160801 + + + Genatlas + PTH1R + + + HGNC + 9608 + + + IUPHAR + 331 + + + OMIM + 168468 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 22057236[PMID]_22057234[PMID] + + isocitrate dehydrogenase (NADP(+)) 2 + IDH2 + + IDH-2 + + + gene with protein product + + + + Ensembl + ENSG00000182054 + + + Genatlas + IDH2 + + + HGNC + 5383 + + + OMIM + 147650 + + + Reactome + P48735 + + + SwissProt + P48735 + + + IUPHAR + 2885 + + + ClinVar + IDH2 + + + + + 15q26.1 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 22057236[PMID]_22057234[PMID] + + isocitrate dehydrogenase (NADP(+)) 1 + IDH1 + + + + gene with protein product + + + + IUPHAR + 2884 + + + Ensembl + ENSG00000138413 + + + Genatlas + IDH1 + + + HGNC + 5382 + + + OMIM + 147700 + + + Reactome + O75874 + + + SwissProt + O75874 + + + ClinVar + IDH1 + + + + + 2q34 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 244275 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244275 + De novo thrombotic microangiopathy after kidney transplantation + + Particular clinical situation in a disease or syndrome + + + Disorder + + + + + + complement factor I + CFI + + C3bINA + C3b-INA + C3b-inactivator + FI + KAF + Konglutinogen-activating factor + + + gene with protein product + + + + OMIM + 217030 + + + Reactome + P05156 + + + SwissProt + P05156 + + + Ensembl + ENSG00000205403 + + + Genatlas + CFI + + + HGNC + 5394 + + + ClinVar + CFI + + + + + 4q25 + 1 + + + + + Biomarker tested in + + + Assessed + + + + + + complement factor H + CFH + + ARMD4 + ARMS1 + FHL1 + H factor 2 (complement) + HUS + age-related maculopathy susceptibility 1 + beta-1H + + + gene with protein product + + + + Ensembl + ENSG00000000971 + + + Genatlas + CFH + + + HGNC + 4883 + + + OMIM + 134370 + + + Reactome + P08603 + + + SwissProt + P08603 + + + ClinVar + CFH + + + + + 1q31.3 + 1 + + + + + Biomarker tested in + + + Assessed + + + + + + 2438 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2438 + Hand-foot-genital syndrome + + Malformation syndrome + + + Disorder + + + + 20301596[PMID] + + homeobox A13 + HOXA13 + + + + gene with protein product + + + + ClinVar + HOXA13 + + + Ensembl + ENSG00000106031 + + + Genatlas + HOXA13 + + + HGNC + 5102 + + + OMIM + 142959 + + + SwissProt + P31271 + + + + + 7p15.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 243343 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243343 + Dimethylglycine dehydrogenase deficiency + + Disease + + + Disorder + + + + 11231903[PMID] + + dimethylglycine dehydrogenase + DMGDH + + ME2GLYDH + + + gene with protein product + + + + Reactome + Q9UI17 + + + Ensembl + ENSG00000132837 + + + Genatlas + DMGDH + + + HGNC + 24475 + + + OMIM + 605849 + + + SwissProt + Q9UI17 + + + ClinVar + DMGDH + + + + + 5q14.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 243367 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243367 + Acute fatty liver of pregnancy + + Disease + + + Disorder + + + + 28515471[PMID] + + hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha + HADHA + + LCHAD + MTPA + gastrin-binding protein + long-chain 2-enoyl-CoA hydratase + long-chain-3-hydroxyacyl-CoA dehydrogenase + mitochondrial trifunctional protein, alpha subunit + GBP + LCEH + + + gene with protein product + + + + Ensembl 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adaptor related protein complex 1 subunit sigma 3 + AP1S3 + + sigma1C + AP-1 complex subunit sigma 3 + + + gene with protein product + + + + Ensembl + ENSG00000152056 + + + Genatlas + AP1S3 + + + HGNC + 18971 + + + OMIM + 615781 + + + Reactome + Q96PC3 + + + SwissProt + Q96PC3 + + + ClinVar + AP1S3 + + + + + 2q36.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 247262 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247262 + Hyperphosphatasia-intellectual disability syndrome + + Disease + + + Disorder + + + + 24129430[PMID] + + phosphatidylinositol glycan anchor biosynthesis class V + PIGV + + FLJ20477 + GPI mannosyltransferase 2 + GPI-MT-II + PIG-V + dol-P-Man dependent GPI mannosyltransferase II + + + gene with protein product + + + + Ensembl + ENSG00000060642 + + + Genatlas + PIGV + + + HGNC + 26031 + + + OMIM + 610274 + + + Reactome + Q9NUD9 + + + SwissProt + Q9NUD9 + + + ClinVar + PIGV + + + + + 1p36.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 25706356[PMID] + + phosphatidylinositol glycan anchor biosynthesis class L + PIGL + + PIG-L + N-acetylglucosaminylphosphatidylinositol deacetylase + N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase + + + gene with protein product + + + + Ensembl + ENSG00000108474 + + + Genatlas + PIGL + + + HGNC + 8966 + + + OMIM + 605947 + + + Reactome + Q9Y2B2 + + + SwissProt + Q9Y2B2 + + + ClinVar + PIGL + + + + + 17p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22683086[PMID] + + phosphatidylinositol glycan anchor biosynthesis class O + PIGO + + GPI ethanolamine phosphate transferase 3 + DKFZp434M222 + FLJ00135 + PIG-O + + + gene with protein product + + + + HGNC + 23215 + + + OMIM + 614730 + + + Reactome + Q8TEQ8 + + + SwissProt + Q8TEQ8 + + + Ensembl + ENSG00000165282 + + + Genatlas + PIGO + + + ClinVar + PIGO + + + + + 9p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23561847[PMID]_23561846[PMID] + + post-GPI attachment to proteins 2 + PGAP2 + + CWH43-N + Cell wall biogenesis 43 N-terminal homolog (S. cerevisiae) + FGF receptor activating protein 1 + FRAG1 + cell wall biogenesis 43 N-terminal homolog (S. cerevisiae) + + + gene with protein product + + + + ClinVar + PGAP2 + + + Ensembl + ENSG00000148985 + + + Genatlas + PGAP2 + + + HGNC + 17893 + + + OMIM + 615187 + + + SwissProt + Q9UHJ9 + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24439110[PMID] + + post-GPI attachment to proteins phospholipase 3 + PGAP3 + + CAB2 + MGC9753 + PER1 + PP1498 + post-GPI attachment to proteins 3 + + + gene with protein product + + + + ClinVar + PGAP3 + + + Ensembl + ENSG00000161395 + + + Genatlas + PGAP3 + + + HGNC + 23719 + + + OMIM + 611801 + + + SwissProt + Q96FM1 + + + + + 17q12 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 24367057[PMID] + + phosphatidylinositol glycan anchor biosynthesis class W + PIGW + + FLJ37433 + Gwt1 + GPI-anchored wall protein transfer 1 homolog (S. cerevisiae) + PIG-W + + + gene with protein product + + + + Ensembl + ENSG00000277161 + + + Genatlas + PIGW + + + HGNC + 23213 + + + OMIM + 610275 + + + Reactome + Q7Z7B1 + + + SwissProt + Q7Z7B1 + + + ClinVar + PIGW + + + + + 17q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26293662[PMID] + + phosphatidylinositol glycan anchor biosynthesis class Y + PIGY + + MGC14156 + Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y + PIG-Y + + + gene with protein product + + + + Ensembl + ENSG00000255072 + + + HGNC + 28213 + + + OMIM + 610662 + + + SwissProt + Q3MUY2 + + + + + 4q22.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 2484 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2484 + Melnick-Needles syndrome + + Malformation syndrome + + + Disorder + + + + 20186808[PMID]_21031081[PMID] + + filamin A + FLNA + + ABP-280 + actin binding protein 280 + alpha filamin + + + gene with protein product + + + + Ensembl + ENSG00000196924 + + + Genatlas + FLNA + + + HGNC + 3754 + + + OMIM + 300017 + + + Reactome + P21333 + + + SwissProt + P21333 + + + ClinVar + FLNA + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 247198 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247198 + Progressive cerebello-cerebral atrophy + + Disease + + + Disorder + + + + 20920667[PMID] + + Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase + SEPSECS + + SLA + SLA/LP + soluble liver antigen/liver pancreas antigen + O-phosphoseryl-tRNA(Sec) selenium transferase + SecS + SLA-p35 + + + gene with protein product + + + + ClinVar + SEPSECS + + + Ensembl + ENSG00000109618 + + + Genatlas + SEPSECS + + + HGNC + 30605 + + + OMIM + 613009 + + + Reactome + Q9HD40 + + + SwissProt + Q9HD40 + + + + + 4p15.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24577744[PMID] + + VPS53 subunit of GARP complex + VPS53 + + FLJ10979 + HCCS1 + hepatocellular carcinoma suppressor 1 + + + gene with protein product + + + + Reactome + Q5VIR6 + + + ClinVar + VPS53 + + + Ensembl + ENSG00000141252 + + + Genatlas + VPS53 + + + HGNC + 25608 + + + OMIM + 615850 + + + SwissProt + Q5VIR6 + + + + + 17p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2477 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2477 + Isolated megalencephaly + + Malformation syndrome + + + Disorder + + + + 23687350[PMID] + + TBC1 domain family member 7 + TBC1D7 + + FLJ32666 + TS complex subunit 3 + dJ257A7.3 + Tre2-Bub2-Cdc16 Domain Family Member 7 + TBC7 + TBC domain family 7 + + + gene with protein product + + + + Reactome + Q9P0N9 + + + ClinVar + TBC1D7 + + + Ensembl + ENSG00000145979 + + + Genatlas + TBC1D7 + + + HGNC + 21066 + + + OMIM + 612655 + + + SwissProt + Q9P0N9 + + + + + 6p24.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 2473 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2473 + McKusick-Kaufman syndrome + + Malformation syndrome + + + Disorder + + + + 20301675[PMID] + + MKKS centrosomal shuttling protein + MKKS + + + + gene with protein product + + + + Ensembl + ENSG00000125863 + + + Genatlas + MKKS + + + HGNC + 7108 + + + OMIM + 604896 + + + Reactome + Q9NPJ1 + + + SwissProt + Q9NPJ1 + + + ClinVar + MKKS + + + + + 20p12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2470 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470 + Matthew-Wood syndrome + + Malformation syndrome + + + Disorder + + + + 17503335[PMID] + + signaling receptor and transporter of retinol STRA6 + STRA6 + + FLJ12541 + retinol binding protein 4 receptor + RBP receptor + SLC69A1 + + + gene with protein product + + + + Ensembl + ENSG00000137868 + + + Genatlas + STRA6 + + + HGNC + 30650 + + + OMIM + 610745 + + + Reactome + Q9BX79 + + + SwissProt + Q9BX79 + + + ClinVar + STRA6 + + + + + 15q24.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 35790350[PMID] + + Wnt family member 7B + WNT7B + + + + gene with protein product + + + + HGNC + 12787 + + + Ensembl + ENSG00000188064 + + + OMIM + 601967 + + + SwissProt + P56706 + + + + + 22q13.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 561 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561 + Marshall-Smith syndrome + + Malformation syndrome + + + Disorder + + + + 20673863[PMID] + + nuclear factor I X + NFIX + + NF1A + CCAAT-binding transcription factor + + + gene with protein product + + + + ClinVar + NFIX + + + Ensembl + ENSG00000008441 + + + Genatlas + NFIX + + + HGNC + 7788 + + + OMIM + 164005 + + + Reactome + Q14938 + + + SwissProt + Q14938 + + + + + 19p13.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 559 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=559 + Marinesco-Sjögren syndrome + + Disease + + + Disorder + + + + 20301371[PMID]_16650075[PMID] + + SIL1 nucleotide exchange factor + SIL1 + + BAP + ULG5 + + + gene with protein product + + + + ClinVar + SIL1 + + + Ensembl + ENSG00000120725 + + + Genatlas + SIL1 + + + HGNC + 24624 + + + OMIM + 608005 + + + SwissProt + Q9H173 + + + + + 5q31.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 2462 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2462 + Shprintzen-Goldberg syndrome + + Malformation syndrome + + + Disorder + + + + 23023332[PMID] + + SKI proto-oncogene + SKI + + Sloan-Kettering Institute proto-oncogene + + + gene with protein product + + + + Ensembl + ENSG00000157933 + + + Genatlas + SKI + + + HGNC + 10896 + + + OMIM + 164780 + + + Reactome + P12755 + + + SwissProt + P12755 + + 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SwissProt + Q9H5I5 + + + + + 18p11.22-p11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 251630 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251630 + Anaplastic oligodendroglioma + + Disease + + + Disorder + + + + 23681562[PMID]_19228619[PMID]_19554337[PMID]_23109653[PMID]_24149775[PMID]_20714900[PMID]_21075857[PMID] + + isocitrate dehydrogenase (NADP(+)) 2 + IDH2 + + IDH-2 + + + gene with protein product + + + + Ensembl + ENSG00000182054 + + + Genatlas + IDH2 + + + HGNC + 5383 + + + OMIM + 147650 + + + Reactome + P48735 + + + SwissProt + P48735 + + + IUPHAR + 2885 + + + ClinVar + IDH2 + + + + + 15q26.1 + 1 + + + + + Biomarker tested in + + + Assessed + + + + 25482530[PMID] + + protection of telomeres 1 + POT1 + + DKFZp586D211 + hPot1 + + + gene with protein product + + + + Ensembl + ENSG00000128513 + + + Genatlas + POT1 + + + HGNC + 17284 + + + OMIM + 606478 + + + Reactome + Q9NUX5 + + + SwissProt + Q9NUX5 + + + ClinVar + POT1 + + 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in + + + Assessed + + + + 22159586[PMID]_21424530[PMID]_19373855[PMID] + + KRAS proto-oncogene, GTPase + KRAS + + KRAS1 + K-Ras4B + + + gene with protein product + + + + IUPHAR + 2824 + + + ClinVar + KRAS + + + Ensembl + ENSG00000133703 + + + Genatlas + KRAS + + + HGNC + 6407 + + + OMIM + 190070 + + + Reactome + P01116 + + + SwissProt + P01116 + + + + + 12p12.1 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 251627 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251627 + Oligodendroglioma + + Disease + + + Disorder + + + + 23681562[PMID]_19228619[PMID]_19554337[PMID]_23109653[PMID]_24149775[PMID]_20714900[PMID]_21075857[PMID] + + isocitrate dehydrogenase (NADP(+)) 2 + IDH2 + + IDH-2 + + + gene with protein product + + + + Ensembl + ENSG00000182054 + + + Genatlas + IDH2 + + + HGNC + 5383 + + + OMIM + 147650 + + + Reactome + P48735 + + + SwissProt + P48735 + + + IUPHAR + 2885 + + + ClinVar + IDH2 + + + + + 15q26.1 + 1 + + + + + Biomarker tested in + + + Assessed + + + + 25482530[PMID] + + protection of telomeres 1 + POT1 + + DKFZp586D211 + hPot1 + + + gene with protein product + + + + Ensembl + ENSG00000128513 + + + Genatlas + POT1 + + + HGNC + 17284 + + + OMIM + 606478 + + + Reactome + Q9NUX5 + + + SwissProt + Q9NUX5 + + + ClinVar + POT1 + + + + + 7q31.33 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 2169 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2169 + Methylcobalamin deficiency type cblE + + Clinical subtype + + + Subtype of disorder + + + + 20301503[PMID] + + 5-methyltetrahydrofolate-homocysteine methyltransferase reductase + MTRR + + Methionine synthase reductase + cblE + + + gene with protein product + + + + ClinVar + MTRR + + + Ensembl + ENSG00000124275 + + + Genatlas + MTRR + + + HGNC + 7473 + + + OMIM + 602568 + + + Reactome + Q9UBK8 + + + SwissProt + Q9UBK8 + + + + + 5p15.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2228 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2228 + Hypodontia-dysplasia of nails syndrome + + Malformation syndrome + + + Disorder + + + + 11369996[PMID] + + msh homeobox 1 + MSX1 + + HYD1 + OFC5 + + + gene with protein product + + + + ClinVar + MSX1 + + + HGNC + 7391 + + + OMIM + 142983 + + + SwissProt + P28360 + + + Ensembl + ENSG00000163132 + + + Genatlas + MSX1 + + + + + 4p16.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2224 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2224 + Hypertryptophanemia + + Disease + + + Disorder + + + + 28285122[PMID] + + tryptophan 2,3-dioxygenase + TDO2 + + TDO + TPH2 + + + gene with protein product + + + + HGNC + 11708 + + + Genatlas + TDO2 + + + Ensembl + ENSG00000151790 + + + SwissProt + P48775 + + + OMIM + 191070 + + + IUPHAR + 2887 + + + Reactome + P48775 + + + ClinVar + TDO2 + + + + + 4q32.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2229 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2229 + Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome + + Malformation syndrome + + + Disorder + + + + 19283854[PMID] + + lamin A/C + LMNA + + HGPS + MADA + mandibuloacral dysplasia type A + progerin + + + gene with protein product + + + + ClinVar + LMNA + + + Ensembl + ENSG00000160789 + + + Genatlas + LMNA + + + HGNC + 6636 + + + OMIM + 150330 + + + Reactome + P02545 + + + SwissProt + P02545 + + + + + 1q22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2237 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2237 + Hypoparathyroidism-sensorineural deafness-renal disease syndrome + + Malformation syndrome + + + Disorder + + + + 10935639[PMID]_21120445[PMID]_23757620[PMID] + + GATA binding protein 3 + GATA3 + + HDR + + + gene with protein product + + + + ClinVar + GATA3 + + + Ensembl + ENSG00000107485 + + + Genatlas + GATA3 + + + HGNC + 4172 + + + OMIM + 131320 + + 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SwissProt + P04264 + + + ClinVar + KRT1 + + + Reactome + P04264 + + + + + 12q13.13 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 12192490[PMID]_12072061[PMID]_23397986[PMID]_24899405[PMID] + + keratin 9 + KRT9 + + CK-9 + EPPK + K9 + cytokeratin 9 + epidermolytic palmoplantar keratoderma + type I cytoskeletal 9 + + + gene with protein product + + + + Reactome + P35527 + + + Ensembl + ENSG00000171403 + + + Genatlas + KRT9 + + + HGNC + 6447 + + + OMIM + 607606 + + + SwissProt + P35527 + + + ClinVar + KRT9 + + + + + 17q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 8595410[PMID] + + keratin 16 + KRT16 + + NEPPK + focal non-epidermolytic palmoplantar keratoderma + + + gene with protein product + + + + ClinVar + KRT16 + + + Ensembl + ENSG00000186832 + + + Genatlas + KRT16 + + + HGNC + 6423 + + + OMIM + 148067 + + + SwissProt + P08779 + + + Reactome + P08779 + + + + + 17q21.2 + 1 + + + + + Candidate gene tested in + + + Assessed + + + + + + 251863 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251863 + Desmoplastic/nodular medulloblastoma + + Histopathological subtype + + + Subtype of disorder + + + + 21188540[PMID]_22508808[PMID]_12068298[PMID]_19833601[PMID] + + SUFU negative regulator of hedgehog signaling + SUFU + + PRO1280 + SUFUH + SUFUXL + + + gene with protein product + + + + Reactome + Q9UMX1 + + + SwissProt + Q9UMX1 + + + Ensembl + ENSG00000107882 + + + Genatlas + SUFU + + + HGNC + 16466 + + + OMIM + 607035 + + + ClinVar + SUFU + + + + + 10q24.32 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 2198 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2198 + Palmoplantar keratoderma-esophageal carcinoma syndrome + + Disease + + + Disorder + + + + 22265016[PMID] + + rhomboid 5 homolog 2 + RHBDF2 + + FLJ22341 + RHBDL5 + TOCG + iRhom2 + + + gene with protein product + + + + Ensembl + ENSG00000129667 + + + Genatlas + RHBDF2 + + + HGNC + 20788 + + + OMIM + 614404 + + + SwissProt + Q6PJF5 + + + ClinVar + RHBDF2 + + + + + 17q25.1 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 251858 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251858 + Medulloblastoma with extensive nodularity + + Histopathological subtype + + + Subtype of disorder + + + + 21188540[PMID]_22508808[PMID]_12068298[PMID]_19833601[PMID] + + SUFU negative regulator of hedgehog signaling + SUFU + + PRO1280 + SUFUH + SUFUXL + + + gene with protein product + + + + Reactome + Q9UMX1 + + + SwissProt + Q9UMX1 + + + Ensembl + ENSG00000107882 + + + Genatlas + SUFU + + + HGNC + 16466 + + + OMIM + 607035 + + + ClinVar + SUFU + + + + + 10q24.32 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 251877 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251877 + Ganglioneuroblastoma + + Disease + + + Disorder + + + + 20301782[PMID] + + ALK receptor tyrosine kinase 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Non-coding RNA + + + + Ensembl + ENSG00000210151 + + + Genatlas + MT-TS1 + + + HGNC + 7497 + + + OMIM + 590080 + + + ClinVar + MT-TS1 + + + + + mitochondria + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 251899 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251899 + Choroid plexus carcinoma + + Disease + + + Disorder + + + + 21445348[PMID] + + tumor protein p53 + TP53 + + LFS1 + Li-Fraumeni syndrome + P53 + p53 + + + gene with protein product + + + + Ensembl + ENSG00000141510 + + + Genatlas + TP53 + + + HGNC + 11998 + + + OMIM + 191170 + + + Reactome + P04637 + + + SwissProt + P04637 + + + ClinVar + TP53 + + + + + 17p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 251019 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251019 + 2q32q33 deletion syndrome + + Malformation syndrome + + + Disorder + + + + 16179223[PMID] + + SATB homeobox 2 + SATB2 + + FLJ21474 + KIAA1034 + + + gene with protein product + + + + Reactome + Q9UPW6 + + + Ensembl + ENSG00000119042 + + + Genatlas + SATB2 + + + HGNC + 21637 + + + OMIM + 608148 + + + SwissProt + Q9UPW6 + + + ClinVar + SATB2 + + + + + 2q33.1 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 251028 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251028 + SATB2-associated syndrome due to a chromosomal rearrangement + + Etiological subtype + + + Subtype of disorder + + + + 19668335[PMID]_21343628[PMID] + + SATB homeobox 2 + SATB2 + + FLJ21474 + KIAA1034 + + + gene with protein product + + + + Reactome + Q9UPW6 + + + Ensembl + ENSG00000119042 + + + Genatlas + SATB2 + + + HGNC + 21637 + + + OMIM + 608148 + + + SwissProt + Q9UPW6 + + + ClinVar + SATB2 + + + + + 2q33.1 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 672 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672 + Pallister-Hall syndrome + + Malformation syndrome + + + Disorder + + + + 20301638[PMID] + + GLI family zinc finger 3 + GLI3 + + ACLS + DNA-binding protein + PAP-A + PAPA + PAPA1 + PAPB + PPDIV + oncogene GLI3 + zinc finger protein GLI3 + + + gene with protein product + + + + Ensembl + ENSG00000106571 + + + ClinVar + GLI3 + + + Genatlas + GLI3 + + + HGNC + 4319 + + + OMIM + 165240 + + + Reactome + P10071 + + + SwissProt + P10071 + + + + + 7p14.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 455 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=455 + Superficial epidermolytic ichthyosis + + Disease + + + Disorder + + + + 15949009[PMID] + + keratin 2 + KRT2 + + KRTE + epidermal ichthyosis bullosa of Siemens + + + gene with protein product + + + + ClinVar + KRT2 + + + Ensembl + ENSG00000172867 + + + Genatlas + KRT2 + + + HGNC + 6439 + + + OMIM + 600194 + + + SwissProt + P35908 + + + Reactome + P35908 + + + + + 12q13.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 251061 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251061 + 7q31 microdeletion syndrome + + Malformation syndrome + + + Disorder + + + + 17330859[PMID]_22144704[PMID] + + forkhead box P2 + FOXP2 + + CAG repeat protein 44 + CAGH44 + forkhead/winged-helix transcription factor + speech and language disorder 1 + trinucleotide repeat containing 10 + + + gene with protein product + + + + ClinVar + FOXP2 + + + Ensembl + ENSG00000128573 + + + Genatlas + FOXP2 + + + HGNC + 13875 + + + OMIM + 605317 + + + SwissProt + O15409 + + + Reactome + O15409 + + + + + 7q31.1 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 251066 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251066 + 8p11.2 deletion syndrome + + Malformation syndrome + + + Disorder + + + + 22771917[PMID] + + ankyrin 1 + ANK1 + + SPH1 + + + gene with protein product + + + + ClinVar + ANK1 + + + Ensembl + ENSG00000029534 + + + Genatlas + ANK1 + + + HGNC + 492 + + + OMIM + 612641 + + + Reactome + P16157 + + + SwissProt + P16157 + + + + + 8p11.21 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 251071 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251071 + 8p23.1 microdeletion syndrome + + Malformation syndrome + + + Disorder + + + + 10090897[PMID]_19606479[PMID] + + GATA binding protein 4 + GATA4 + + + + gene with protein product + + + + ClinVar + GATA4 + + + Ensembl + ENSG00000136574 + + + Genatlas + GATA4 + + + HGNC + 4173 + + + OMIM + 600576 + + + Reactome + P43694 + + + SwissProt + P43694 + + + + + 8p23.1 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 2273 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2273 + Ichthyosis follicularis-alopecia-photophobia syndrome + + Disease + + + Disorder + + + + 21600032[PMID] + + membrane bound transcription factor peptidase, site 2 + MBTPS2 + + sterol regulatory element-binding proteins intramembrane protease + S2P + site-2 protease + + + gene with protein product + + + + Ensembl + ENSG00000012174 + + + Genatlas + MBTPS2 + + + HGNC + 15455 + + + OMIM + 300294 + + + Reactome + O43462 + + + SwissProt + O43462 + + + ClinVar + MBTPS2 + + + + + Xp22.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 139 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139 + CHILD syndrome + + Disease + + + Disorder + + + + 10710235[PMID]_11907515[PMID] + + NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL + NSDHL + + H105e3 + SDR31E1 + XAP104 + short chain dehydrogenase/reductase family 31E, member 1 + 3-beta-hydroxysteroid dehydrogenase + 3beta-hydroxysteroid-4alpha-carboxylate 3-dehydrogenase (decarboxylating) + + + gene with protein product + + + + IUPHAR + 3297 + + + ClinVar + NSDHL + + + Ensembl + ENSG00000147383 + + + Genatlas + NSDHL + + + HGNC + 13398 + + + OMIM + 300275 + + + Reactome + Q15738 + + + SwissProt + Q15738 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 457 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457 + Harlequin ichthyosis + + Disease + + + Disorder + + + + 20301593[PMID]_19179616[PMID] + + ATP binding cassette subfamily A member 12 + ABCA12 + + DKFZP434G232 + LI2 + + + gene with protein product + + + + HGNC + 14637 + + + IUPHAR + 766 + + + OMIM + 607800 + + + Reactome + Q86UK0 + + + SwissProt + Q86UK0 + + + Ensembl + ENSG00000144452 + + + Genatlas + ABCA12 + + + ClinVar + ABCA12 + + + + + 2q35 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 251056 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251056 + 6q25.2q25.3 microdeletion syndrome + + Malformation syndrome + + + Disorder + + + + 22405089[PMID] + + AT-rich interaction domain 1B + ARID1B + + 6A3-5 + BAF250b + DAN15 + ELD/OSA1 + KIAA1235 + p250R + SMARCF2 + + + gene with protein product + + + + Ensembl + ENSG00000049618 + + + Genatlas + ARID1B + + + HGNC + 18040 + + + OMIM + 614556 + + + Reactome + Q8NFD5 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Disease-causing germline mutation(s) in + + + Assessed + + + + 28602422[PMID] + + myosin light chain kinase + MYLK + + KRP + MLCK108 + MLCK210 + MLCK + MLCK1 + MYLK1 + smMLCK + smooth muscle myosin light chain kinase + kinase related protein + Telokin + MYLK-L + + + gene with protein product + + + + Ensembl + ENSG00000065534 + + + Genatlas + MYLK + + + HGNC + 7590 + + + IUPHAR + 1552 + + + OMIM + 600922 + + + Reactome + Q15746 + + + SwissProt + Q15746 + + + ClinVar + MYLK + + + + + 3q21.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 250984 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984 + Autosomal recessive Stickler syndrome + + Clinical subtype + + + Subtype of disorder + + + + + + collagen type IX alpha 1 chain + COL9A1 + + + + gene with protein product + + + + ClinVar + COL9A1 + + + Ensembl + ENSG00000112280 + + + Genatlas + COL9A1 + + + HGNC + 2217 + + + OMIM + 120210 + + + Reactome + P20849 + + + 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Malformation syndrome + + + Disorder + + + + 39140257[PMID] + + leucine zipper like post translational regulator 1 + LZTR1 + + BTBD29 + LZTR-1 + + + gene with protein product + + + + SwissProt + Q8N653 + + + Ensembl + ENSG00000099949 + + + Genatlas + LZTR1 + + + HGNC + 6742 + + + OMIM + 600574 + + + ClinVar + LZTR1 + + + + + 22q11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 254864 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254864 + Mitochondrial myopathy with reversible cytochrome C oxidase deficiency + + Disease + + + Disorder + + + + 21931168[PMID] + + tRNA mitochondrial 2-thiouridylase + TRMU + + FLJ10140 + MTO2 + MTU1 + mitochondrial tRNA-specific 2-thiouridylase 1 + + + gene with protein product + + + + ClinVar + TRMU + + + Ensembl + ENSG00000100416 + + + Genatlas + TRMU + + + HGNC + 25481 + + + OMIM + 610230 + + + Reactome + O75648 + + + SwissProt + O75648 + + + + + 22q13.31 + 1 + + + + + Disease-causing germline 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14q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 254920 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254920 + Combined oxidative phosphorylation defect type 2 + + Disease + + + Disorder + + + + 15505824[PMID] + + mitochondrial ribosomal protein S16 + MRPS16 + + bS16m + CGI-132 + + + gene with protein product + + + + Ensembl + ENSG00000182180 + + + Genatlas + MRPS16 + + + HGNC + 14048 + + + OMIM + 609204 + + + Reactome + Q9Y3D3 + + + SwissProt + Q9Y3D3 + + + ClinVar + MRPS16 + + + + + 10q22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 254913 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254913 + Isolated ATP synthase deficiency + + Disease + + + Disorder + + + + 21686774[PMID]_28412374[PMID] + + mitochondrially encoded ATP synthase membrane subunit 6 + MT-ATP6 + + ATP6 + ATPase-6 + Su6m + mitochondrially encoded ATP synthase membrane subunit a + + + gene with protein product 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Ensembl + ENSG00000204103 + + + Genatlas + MAFB + + + HGNC + 6408 + + + OMIM + 608968 + + + Reactome + Q9Y5Q3 + + + SwissProt + Q9Y5Q3 + + + ClinVar + MAFB + + + + + 20q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2770 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2770 + Nasu-Hakola disease + + Malformation syndrome + + + Disorder + + + + 20301376[PMID] + + triggering receptor expressed on myeloid cells 2 + TREM2 + + TREM-2 + Trem2a + Trem2b + Trem2c + + + gene with protein product + + + + Ensembl + ENSG00000095970 + + + Genatlas + TREM2 + + + HGNC + 17761 + + + OMIM + 605086 + + + Reactome + Q9NZC2 + + + SwissProt + Q9NZC2 + + + ClinVar + TREM2 + + + + + 6p21.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 20301376[PMID] + + transmembrane immune signaling adaptor TYROBP + TYROBP + + DAP12 + DNAX-activation protein 12 + KARAP + PLO-SL + killer activating receptor associated protein 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254334 + Autosomal recessive intermediate Charcot-Marie-Tooth disease type B + + Disease + + + Disorder + + + + 20920668[PMID] + + lysyl-tRNA synthetase 1 + KARS1 + + KARS1 + KARS2 + lysine tRNA ligase + + + gene with protein product + + + + ClinVar + KARS + + + Ensembl + ENSG00000065427 + + + Genatlas + KARS + + + HGNC + 6215 + + + OMIM + 601421 + + + Reactome + Q15046 + + + SwissProt + Q15046 + + + + + 16q23.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2762 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2762 + Progressive osseous heteroplasia + + Malformation syndrome + + + Disorder + + + + 14723729[PMID]_20427508[PMID]_17321228[PMID] + + GNAS complex locus + GNAS + + G protein subunit alpha S + GNASXL + GPSA + NESP + NESP55 + SCG6 + SgVI + secretogranin VI + + + gene with protein product + + + + ClinVar + GNAS + + + SwissProt + P63092 + + + SwissProt + P84996 + + + SwissProt + Q5JWF2 + + + Ensembl + ENSG00000087460 + + + Genatlas + GNAS + + + HGNC + 4392 + + + OMIM + 139320 + + + Reactome + P63092 + + + SwissProt + O95467 + + + + + 20q13.32 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 252212 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252212 + Malignant triton tumor + + Histopathological subtype + + + Subtype of disorder + + + + 27723760[PMID] + + SH3 and PX domains 2A + SH3PXD2A + + FISH + five SH3 domains + KIAA0418 + + + gene with protein product + + + + Reactome + Q5TCZ1 + + + OMIM + 619455 + + + SwissProt + Q5TCZ1 + + + HGNC + 23664 + + + Genatlas + SH3PXD2A + + + ClinVar + SH3PXD2A + + + Ensembl + ENSG00000107957 + + + + + 10q24.33 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 27723760[PMID] + + HtrA serine peptidase 1 + HTRA1 + + ARMD7 + HtrA + IGFBP5-protease + + + gene with protein product + + + + ClinVar + HTRA1 + + + Ensembl + ENSG00000166033 + + 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p16 + p16INK4a + p19 + p19Arf + inhibitor of cdk4 A + P16-INK4A + CDKN2A/ARF Intron 2 lncRNA + multiple tumour suppressor 1 + cyclin-dependent kinase 4 inhibitor A + p14 alternate open reading frame + p19 alternate open reading frame + CAI2 + + + gene with protein product + + + + Ensembl + ENSG00000147889 + + + Genatlas + CDKN2A + + + HGNC + 1787 + + + OMIM + 600160 + + + Reactome + P42771 + + + SwissProt + P42771 + + + ClinVar + CDKN2A + + + + + 9p21.3 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 252202 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252202 + Constitutional mismatch repair deficiency syndrome + + Disease + + + Disorder + + + + 20442441[PMID]_23483711[PMID] + + PMS1 homolog 2, mismatch repair system component + PMS2 + + HNPCC4 + H_DJ0042M02.9 + MLH4 + PMS-2 + + + gene with protein product + + + + Ensembl + ENSG00000122512 + + + Genatlas + PMS2 + + + HGNC + 9122 + + + OMIM + 600259 + + + Reactome + P54278 + + + SwissProt + P54278 + + + ClinVar + PMS2 + + + + + 7p22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20442441[PMID] + + mutL homolog 1 + MLH1 + + MLH-1 + FCC2 + HNPCC + HNPCC2 + + + gene with protein product + + + + ClinVar + MLH1 + + + Ensembl + ENSG00000076242 + + + Genatlas + MLH1 + + + HGNC + 7127 + + + OMIM + 120436 + + + Reactome + P40692 + + + SwissProt + P40692 + + + + + 3p22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20442441[PMID]_23483711[PMID] + + mutS homolog 2 + MSH2 + + MSH-2 + HNPCC + HNPCC1 + DNA mismatch repair protein Msh2 + + + gene with protein product + + + + ClinVar + MSH2 + + + Ensembl + ENSG00000095002 + + + Genatlas + MSH2 + + + HGNC + 7325 + + + OMIM + 609309 + + + Reactome + P43246 + + + SwissProt + P43246 + + + + + 2p21-p16.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20442441[PMID]_23483711[PMID] + + mutS homolog 6 + MSH6 + + MSH-6 + + + gene with protein product + + + + ClinVar + MSH6 + + + Ensembl + ENSG00000116062 + + + Genatlas + MSH6 + + + HGNC + 7329 + + + OMIM + 600678 + + + Reactome + P52701 + + + SwissProt + P52701 + + + + + 2p16.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2792 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2792 + Otofaciocervical syndrome + + Malformation syndrome + + + Disorder + + + + 16441263[PMID] + + EYA transcriptional coactivator and phosphatase 1 + EYA1 + + + + gene with protein product + + + + ClinVar + EYA1 + + + Ensembl + ENSG00000104313 + + + Genatlas + EYA1 + + + HGNC + 3519 + + + OMIM + 601653 + + + Reactome + Q99502 + + + SwissProt + Q99502 + + + + + 8q13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23851939[PMID] + + paired box 1 + PAX1 + + + + gene with protein product + + + + ClinVar + PAX1 + + + Ensembl + ENSG00000125813 + + + Genatlas + PAX1 + + + HGNC + 8615 + + + OMIM + 167411 + + + SwissProt + P15863 + + + + + 20p11.22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 254525 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254525 + Temple syndrome due to paternal 14q32.2 microdeletion + + Etiological subtype + + + Subtype of disorder + + + + 18176563[PMID]_24801763[PMID] + + maternally expressed 3 + MEG3 + + GTL2 + LINC00023 + NCRNA00023 + long intergenic non-protein coding RNA 23 + non-protein coding RNA 23 + onco-lncRNA-83 + gene trap locus 2 + + + Non-coding RNA + + + + Ensembl + ENSG00000214548 + + + Genatlas + MEG3 + + + HGNC + 14575 + + + OMIM + 605636 + + + ClinVar + MEG3 + + + + + 14q32.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 18176563[PMID] + + delta like non-canonical Notch ligand 1 + DLK1 + + Delta1 + FA1 + Pref-1 + ZOG + pG2 + + + gene with protein product + + + + ClinVar + DLK1 + + + Ensembl + ENSG00000185559 + + + Genatlas + DLK1 + + + HGNC + 2907 + + + OMIM + 176290 + + + Reactome + P80370 + + + SwissProt + P80370 + + + + + 14q32.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 18176563[PMID] + + retrotransposon Gag like 1 + RTL1 + + Sushi-Ichi retrotransposon homolog 2 + SIRH2 + HUR1 + paternally expressed 11 + mammalian retrotransposon-derived 1 + MART1 + Mar1 + PEG11 + + + gene with protein product + + + + Ensembl + ENSG00000254656 + + + Genatlas + RTL1 + + + HGNC + 14665 + + + OMIM + 611896 + + + SwissProt + A6NKG5 + + + ClinVar + RTL1 + + + + + 14q32.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 2796 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2796 + Pachydermoperiostosis + + Malformation syndrome + + + Disorder + + + + 22197487[PMID]_22331663[PMID] + + solute carrier organic anion transporter family member 2A1 + SLCO2A1 + + prostaglandin transporter + OATP2A1 + PGT + + + gene with protein product + + + + IUPHAR + 1223 + + + Ensembl + ENSG00000174640 + + + Genatlas + SLCO2A1 + + + HGNC + 10955 + + + OMIM + 601460 + + + Reactome + Q92959 + + + SwissProt + Q92959 + + + ClinVar + SLCO2A1 + + + + + 3q22.1-q22.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 18500342[PMID] + + 15-hydroxyprostaglandin dehydrogenase + HPGD + + SDR36C1 + 15-hydroxyprostaglandin dehydrogenase (NAD(+)) + short chain dehydrogenase/reductase family 36C, member 1 + + + gene with protein product + + + + OMIM + 601688 + + + Reactome + P15428 + + + SwissProt + P15428 + + + ClinVar + HPGD + + + Ensembl + ENSG00000164120 + + + Genatlas + HPGD + + + HGNC + 5154 + + + IUPHAR + 1384 + + + + + 4q34.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 254528 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254528 + Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion + + Etiological subtype + + + Subtype of disorder + + + + 18176563[PMID] + + retrotransposon Gag like 1 + RTL1 + + Sushi-Ichi retrotransposon homolog 2 + SIRH2 + HUR1 + paternally expressed 11 + mammalian retrotransposon-derived 1 + MART1 + Mar1 + PEG11 + + + gene with protein product + + + + Ensembl + ENSG00000254656 + + + Genatlas + RTL1 + + + HGNC + 14665 + + + OMIM + 611896 + + + SwissProt + A6NKG5 + + + ClinVar + RTL1 + + + + + 14q32.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 18176563[PMID]_24801763[PMID] + + maternally expressed 3 + MEG3 + + GTL2 + LINC00023 + NCRNA00023 + long intergenic non-protein coding RNA 23 + non-protein coding RNA 23 + onco-lncRNA-83 + gene trap locus 2 + + + Non-coding RNA + + + + Ensembl + ENSG00000214548 + + + Genatlas + MEG3 + + + HGNC + 14575 + + + OMIM + 605636 + + + ClinVar + MEG3 + + + + + 14q32.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 18176563[PMID] + + delta like non-canonical Notch ligand 1 + DLK1 + + Delta1 + FA1 + Pref-1 + ZOG + pG2 + + + gene with protein product + + + + ClinVar + DLK1 + + + Ensembl + ENSG00000185559 + + + Genatlas + DLK1 + + + HGNC + 2907 + + + OMIM + 176290 + + + Reactome + P80370 + + + SwissProt + P80370 + + + + + 14q32.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 2789 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2789 + Lateral meningocele syndrome + + Malformation syndrome + + + Disorder + + + + 25394726[PMID] + + notch receptor 3 + NOTCH3 + + CASIL + + + gene with protein product + + + + Ensembl + ENSG00000074181 + + + Genatlas + NOTCH3 + + + HGNC + 7883 + + + OMIM + 600276 + + + Reactome + Q9UM47 + + + SwissProt + Q9UM47 + + + ClinVar + NOTCH3 + + + IUPHAR + 2860 + + + + + 19p13.12 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 2788 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2788 + Osteoporosis-pseudoglioma syndrome + + Disease + + + Disorder + + + + 21407258[PMID]_16679074[PMID]_16252235[PMID] + + LDL receptor related protein 5 + LRP5 + + BMND1 + EVR4 + HBM + LR3 + OPS + OPTA1 + VBCH2 + + + gene with protein product + + + + ClinVar + LRP5 + + + Ensembl + ENSG00000162337 + + + Genatlas + LRP5 + + + HGNC + 6697 + + + OMIM + 603506 + + + Reactome + O75197 + + + SwissProt + O75197 + + + + + 11q13.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 2791 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2791 + Otodental syndrome + + Malformation syndrome + + + Disorder + + + + 17656375[PMID] + + fibroblast growth factor 3 + FGF3 + + HBGF-3 + INT-2 proto-oncogene protein + V-INT2 murine mammary tumor virus integration site oncogene homolog + murine mammary tumor virus integration site 2, mouse + oncogene INT2 + + + gene with protein product + + + + ClinVar + FGF3 + + + Ensembl + ENSG00000186895 + + + Genatlas + FGF3 + + + HGNC + 3681 + + + OMIM + 164950 + + + Reactome + P11487 + + + SwissProt + P11487 + + + + + 11q13.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 2790 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2790 + Endosteal hyperostosis, Worth type + + Malformation syndrome + + + Disorder + + + + 12579474[PMID] + + LDL receptor related protein 5 + LRP5 + + BMND1 + EVR4 + HBM + LR3 + OPS + OPTA1 + VBCH2 + + + gene with protein product + + + + ClinVar + LRP5 + + + Ensembl + ENSG00000162337 + + + Genatlas + LRP5 + + + HGNC + 6697 + + + OMIM + 603506 + + + Reactome + O75197 + + + SwissProt + O75197 + + + + + 11q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2783 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2783 + Autosomal dominant osteopetrosis type 1 + + Malformation syndrome + + + Disorder + + + + 21600326[PMID]_12579474[PMID] + + LDL receptor related protein 5 + LRP5 + + BMND1 + EVR4 + HBM + LR3 + OPS + OPTA1 + VBCH2 + + + gene with protein product + + + + ClinVar + LRP5 + + + Ensembl + ENSG00000162337 + + + Genatlas + LRP5 + + + HGNC + 6697 + + + OMIM + 603506 + + + Reactome + O75197 + + + SwissProt + O75197 + + + + + 11q13.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 2780 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2780 + Osteopathia striata-cranial sclerosis syndrome + + Malformation syndrome + + + Disorder + + + + 19079258[PMID] + + APC membrane recruitment protein 1 + AMER1 + + FLJ39827 + RP11-403E24.2 + WTX + Wilms Tumor on the X + adenomatous polyposis coli membrane recruitment 1 + + + gene with protein product + + + + Ensembl + ENSG00000184675 + + + Genatlas + AMER1 + + + HGNC + 26837 + + + OMIM + 300647 + + + Reactome + Q5JTC6 + + + SwissProt + Q5JTC6 + + + ClinVar + AMER1 + + + + + Xq11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 38173341[PMID] + + catenin beta 1 + CTNNB1 + + armadillo + beta-catenin + + + gene with protein product + + + + ClinVar + CTNNB1 + + + Ensembl + ENSG00000168036 + + + Genatlas + CTNNB1 + + + HGNC + 2514 + + + OMIM + 116806 + + + Reactome + P35222 + + + SwissProt + P35222 + + + + + 3p22.1 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 667 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667 + Autosomal recessive malignant osteopetrosis + + Malformation syndrome + + + Disorder + + + + 22419446[PMID]_20424301[PMID]_20301306[PMID]_23877423[PMID] + + chloride voltage-gated channel 7 + CLCN7 + + CLC-7 + CLC7 + OPTA2 + PPP1R63 + protein phosphatase 1, regulatory subunit 63 + ClC-7 + + + gene with protein product + + + + OMIM + 602727 + + + Reactome + P51798 + + + SwissProt + P51798 + + + Ensembl + ENSG00000103249 + + + Genatlas + CLCN7 + + + HGNC + 2025 + + + IUPHAR + 706 + + + ClinVar + CLCN7 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20424301[PMID]_15300850[PMID]_21042819[PMID]_23877423[PMID] + + T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 + TCIRG1 + + ATP6N1C + ATP6V0A3 + Atp6i + OC-116 + OC116 + T-cell immune response cDNA 7 + TIRC7 + a3 + V-ATPase subunit a3 + + + gene with protein product + + + + Ensembl + ENSG00000110719 + + + Genatlas + TCIRG1 + + + HGNC + 11647 + + + OMIM + 604592 + + + Reactome + Q13488 + + + SwissProt + Q13488 + + + ClinVar + TCIRG1 + + + IUPHAR + 825 + + + + + 11q13.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 17632511[PMID]_23877423[PMID] + + TNF superfamily member 11 + TNFSF11 + + RANKL + TRANCE + CD254 + ODF + OPGL + + + gene with protein product + + + + ClinVar + TNFSF11 + + + Ensembl + ENSG00000120659 + + + Genatlas + TNFSF11 + + + HGNC + 11926 + + + OMIM + 602642 + + + Reactome + O14788 + + + SwissProt + O14788 + + + + + 13q14.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22499339[PMID]_23877423[PMID] + + sorting nexin 10 + SNX10 + + + + gene with protein product + + + + ClinVar + SNX10 + + + Ensembl + ENSG00000086300 + + + Genatlas + SNX10 + + + HGNC + 14974 + + + OMIM + 614780 + + + SwissProt + Q9Y5X0 + + + Reactome + Q9Y5X0 + + + + + 7p15.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2805 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2805 + Partial pancreatic agenesis + + Morphological anomaly + + + Disorder + + + + 24212882[PMID] + + pancreas associated transcription factor 1a + PTF1A + + p48 + PTF1-p48 + bHLHa29 + + + gene with protein product + + + + ClinVar + PTF1A + + + Ensembl + ENSG00000168267 + + + Genatlas + PTF1A + + + HGNC + 23734 + + + OMIM + 607194 + + + Reactome + Q7RTS3 + + + SwissProt + Q7RTS3 + + + + + 10p12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 8988180[PMID] + + pancreatic and duodenal homeobox 1 + PDX1 + + IDX-1 + MODY4 + PDX-1 + STF-1 + somatostatin transcription factor 1 + Glucose-sensitive factor + insulin upstream factor 1 + IUF-1 + Islet/duodenum homeobox-1 + GSF + + + gene with protein product + + + + ClinVar + PDX1 + + + Ensembl + ENSG00000139515 + + + Genatlas + PDX1 + + + HGNC + 6107 + + + OMIM + 600733 + + + Reactome + P52945 + + + SwissProt + P52945 + + + + + 13q12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 254693 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254693 + Partial hydatidiform mole + + Clinical subtype + + + Subtype of disorder + + + + 19246479[PMID]_24533231[PMID] + + NLR family pyrin domain containing 7 + NLRP7 + + CLR19.4 + NOD12 + PAN7 + PYPAF3 + nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7 + + + gene with protein product + + + + HGNC + 22947 + + + OMIM + 609661 + + + SwissProt + Q8WX94 + + + Ensembl + ENSG00000167634 + + + Genatlas + NLRP7 + + + IUPHAR + 1774 + + + ClinVar + NLRP7 + + + + + 19q13.42 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24533231[PMID] + + KH domain containing 3 like, subcortical maternal complex member + KHDC3L + + ECAT1 + ES cell associated transcript 1 + + + gene with protein product + + + + Ensembl + ENSG00000203908 + + + Genatlas + KHDC3L + + + HGNC + 33699 + + + OMIM + 611687 + + + SwissProt + Q587J8 + + + ClinVar + KHDC3L + + + + + 6q13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2807 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2807 + Papilloma of choroid plexus + + Disease + + + Disorder + + + + 12085209[PMID] + + tumor protein p53 + TP53 + + LFS1 + Li-Fraumeni syndrome + P53 + p53 + + + gene with protein product + + + + Ensembl + ENSG00000141510 + + + Genatlas + TP53 + + + HGNC + 11998 + + + OMIM + 191170 + + + Reactome + P04637 + + + SwissProt + P04637 + + + ClinVar + TP53 + + + + + 17p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 678 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=678 + Papillon-Lefèvre syndrome + + Disease + + + Disorder + + + + 16460249[PMID] + + cathepsin C + CTSC + + DPP1 + dipeptidyl peptidase 1 + + + gene with protein product + + + + ClinVar + CTSC + + + Ensembl + ENSG00000109861 + + + Genatlas + CTSC + + + HGNC + 2528 + + + IUPHAR + 2344 + + + OMIM + 602365 + + + Reactome + P53634 + + + SwissProt + P53634 + + + + + 11q14.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 254704 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254704 + Genetic hyperferritinemia without iron overload + + Biological anomaly + + + Disorder + + + + 19176363[PMID] + + ferritin light chain + FTL + + L apoferritin + MGC71996 + NBIA3 + ferritin L subunit + ferritin L-chain + ferritin light polypeptide-like 3 + neurodegeneration with brain iron accumulation 3 + FTL1 + + + gene with protein product + + + + ClinVar + FTL + + + Ensembl + ENSG00000087086 + + + Genatlas + FTL + + + HGNC + 3999 + + + OMIM + 134790 + + + Reactome + P02792 + + + SwissProt + P02792 + + + + + 19q13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 254534 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254534 + Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation + + Etiological subtype + + + Subtype of disorder + + + + 18176563[PMID] + + delta like non-canonical Notch ligand 1 + DLK1 + + Delta1 + FA1 + Pref-1 + ZOG + pG2 + + + gene with protein product + + + + ClinVar + DLK1 + + + Ensembl + ENSG00000185559 + + + Genatlas + DLK1 + + + HGNC + 2907 + + + OMIM + 176290 + + + Reactome + P80370 + + + SwissProt + P80370 + + + + + 14q32.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 18176563[PMID]_24801763[PMID] + + maternally expressed 3 + MEG3 + + GTL2 + LINC00023 + NCRNA00023 + long intergenic non-protein coding RNA 23 + non-protein coding RNA 23 + onco-lncRNA-83 + gene trap locus 2 + + + Non-coding RNA + + + + Ensembl + ENSG00000214548 + + + Genatlas + MEG3 + + + HGNC + 14575 + + + OMIM + 605636 + + + ClinVar + MEG3 + + + + + 14q32.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 18176563[PMID] + + retrotransposon Gag like 1 + RTL1 + + Sushi-Ichi retrotransposon homolog 2 + SIRH2 + HUR1 + paternally expressed 11 + mammalian retrotransposon-derived 1 + MART1 + Mar1 + PEG11 + + + gene with protein product + + + + Ensembl + ENSG00000254656 + + + Genatlas + RTL1 + + + HGNC + 14665 + + + OMIM + 611896 + + + SwissProt + A6NKG5 + + + ClinVar + RTL1 + + + + + 14q32.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 2802 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2802 + X-linked sideroblastic anemia and spinocerebellar ataxia + + Disease + + + Disorder + + + + 20301496[PMID] + + ATP binding cassette subfamily B member 7 + ABCB7 + + ASAT + Atm1p + EST140535 + + + gene with protein product + + + + ClinVar + ABCB7 + + + IUPHAR + 774 + + + Ensembl + ENSG00000131269 + + + Genatlas + ABCB7 + + + HGNC + 48 + + + OMIM + 300135 + + + Reactome + O75027 + + + SwissProt + O75027 + + + + + Xq13.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 254531 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254531 + Temple syndrome due to paternal 14q32.2 hypomethylation + + Etiological subtype + + + Subtype of disorder + + + + 18176563[PMID] + + retrotransposon Gag like 1 + RTL1 + + Sushi-Ichi retrotransposon homolog 2 + SIRH2 + HUR1 + paternally expressed 11 + mammalian retrotransposon-derived 1 + MART1 + Mar1 + PEG11 + + + gene with protein product + + + + Ensembl + ENSG00000254656 + + + Genatlas + RTL1 + + + HGNC + 14665 + + + OMIM + 611896 + + + SwissProt + A6NKG5 + + + ClinVar + RTL1 + + + + + 14q32.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 18176563[PMID]_24801763[PMID] + + maternally expressed 3 + MEG3 + + GTL2 + LINC00023 + NCRNA00023 + long intergenic non-protein coding RNA 23 + non-protein coding RNA 23 + onco-lncRNA-83 + gene trap locus 2 + + + Non-coding RNA + + + + Ensembl + ENSG00000214548 + + + Genatlas + MEG3 + + + HGNC + 14575 + + + OMIM + 605636 + + + ClinVar + MEG3 + + + + + 14q32.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 18176563[PMID] + + delta like non-canonical Notch ligand 1 + DLK1 + + Delta1 + FA1 + Pref-1 + ZOG + pG2 + + + gene with protein product + + + + ClinVar + DLK1 + + + Ensembl + ENSG00000185559 + + + Genatlas + DLK1 + + + HGNC + 2907 + + + OMIM + 176290 + + + Reactome + P80370 + + + SwissProt + P80370 + + + + + 14q32.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 254688 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254688 + Complete hydatidiform mole + + Clinical subtype + + + Subtype of disorder + + + + 19246479[PMID]_24533231[PMID] + + NLR family pyrin domain containing 7 + NLRP7 + + CLR19.4 + NOD12 + PAN7 + PYPAF3 + nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7 + + + gene with protein product + + + + HGNC + 22947 + + + OMIM + 609661 + + + SwissProt + Q8WX94 + + + Ensembl + ENSG00000167634 + + + Genatlas + NLRP7 + + + IUPHAR + 1774 + + + ClinVar + NLRP7 + + + + + 19q13.42 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21885028[PMID]_24533231[PMID] + + KH domain containing 3 like, subcortical maternal complex member + KHDC3L + + ECAT1 + ES cell associated transcript 1 + + + gene with protein product + + + + Ensembl + ENSG00000203908 + + + Genatlas + KHDC3L + + + HGNC + 33699 + + + OMIM + 611687 + + + SwissProt + Q587J8 + + + ClinVar + KHDC3L + + + + + 6q13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 30388401[PMID] + + meiotic double-stranded break formation protein 1 + MEI1 + + MGC40042 + SPATA38 + spermatogenesis associated 38 + + + gene with protein product + + + + HGNC + 28613 + + + Ensembl + ENSG00000167077 + + + SwissProt + Q5TIA1 + + + OMIM + 608797 + + + + + 22q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 30388401[PMID] + + TOP6B like initiator of meiotic double strand breaks + TOP6BL + + FLJ22531 + TOPOVIBL + + + gene with protein product + + + + HGNC + 26197 + + + Ensembl + ENSG00000173715 + + + SwissProt + Q8N6T0 + + + OMIM + 616109 + + + + + 11q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2498 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2498 + Syndactyly type 8 + + Morphological anomaly + + + Disorder + + + + 23709756[PMID] + + fibroblast growth factor 16 + FGF16 + + + + gene with protein product + + + + Genatlas + FGF16 + + + HGNC + 3672 + + + OMIM + 300827 + + + Reactome + O43320 + + + SwissProt + O43320 + + + Ensembl + ENSG00000196468 + + + ClinVar + FGF16 + + + + + Xq21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2499 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2499 + Metachondromatosis + + Malformation syndrome + + + Disorder + + + + 21533187[PMID] + + protein tyrosine phosphatase non-receptor type 11 + PTPN11 + + BPTP3 + PTP2C + SH-PTP2 + SHP-2 + SHP2 + SH2 domain-containing protein tyrosine phosphatase 2 + + + gene with protein product + + + + ClinVar + PTPN11 + + + Ensembl + ENSG00000179295 + + + Genatlas + PTPN11 + + + HGNC + 9644 + + + OMIM + 176876 + + + Reactome + Q06124 + + + SwissProt + Q06124 + + + IUPHAR + 3203 + + + + + 12q24.13 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 2500 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2500 + Acrogeria + + Malformation syndrome + + + Disorder + + + + 10819545[PMID] + + collagen type III alpha 1 chain + COL3A1 + + + + gene with protein product + + + + ClinVar + COL3A1 + + + Ensembl + ENSG00000168542 + + + Genatlas + COL3A1 + + + HGNC + 2201 + + + OMIM + 120180 + + + Reactome + P02461 + + + SwissProt + P02461 + + + + + 2q32.2 + 1 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Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 2508 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2508 + Corpus callosum agenesis-abnormal genitalia syndrome + + Malformation syndrome + + + Disorder + + + + 14722918[PMID] + + aristaless related homeobox + ARX + + CT121 + EIEE1 + ISSX + cancer/testis antigen 121 + + + gene with protein product + + + + ClinVar + ARX + + + SwissProt + Q96QS3 + + + Ensembl + ENSG00000004848 + + + Genatlas + ARX + + + HGNC + 18060 + + + OMIM + 300382 + + + + + Xp21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2514 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2514 + Autosomal dominant primary microcephaly + + Etiological subtype + + + Subtype of disorder + + + + 23832105[PMID] + + dipeptidyl peptidase like 6 + DPP6 + + DPL1 + DPPX + + + gene with protein product + + + + Ensembl + ENSG00000130226 + + + Genatlas + DPP6 + + + HGNC + 3010 + + + OMIM + 126141 + + + SwissProt + P42658 + + + ClinVar + DPP6 + + + + + 7q36.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 32910914[PMID] + + lamin B1 + LMNB1 + + + + gene with protein product + + + + ClinVar + LMNB1 + + + Ensembl + ENSG00000113368 + + + Genatlas + LMNB1 + + + HGNC + 6637 + + + OMIM + 150340 + + + Reactome + P20700 + + + SwissProt + P20700 + + + + + 5q23.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2518 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2518 + Autosomal recessive chorioretinopathy-microcephaly syndrome + + Malformation syndrome + + + Disorder + + + + 27650967[PMID] + + polo like kinase 4 + PLK4 + + Sak + + + gene with protein product + + + + ClinVar + PLK4 + + + Ensembl + ENSG00000142731 + + + Genatlas + PLK4 + + + HGNC + 11397 + + + IUPHAR + 2171 + + + OMIM + 605031 + + + Reactome + O00444 + + + SwissProt + O00444 + + + + + 4q28.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22279524[PMID] + + tubulin gamma complex component 6 + TUBGCP6 + + DJ402G11.6 + GCP6 + Gamma-tubulin complex component 6 + KIAA1669 + gamma-tubulin complex component 6 + + + gene with protein product + + + + Ensembl + ENSG00000128159 + + + Genatlas + TUBGCP6 + + + HGNC + 18127 + + + OMIM + 610053 + + + Reactome + Q96RT7 + + + SwissProt + Q96RT7 + + + ClinVar + TUBGCP6 + + + + + 22q13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 25817018[PMID] + + tubulin gamma complex component 4 + TUBGCP4 + + 76P + FLJ14797 + gamma-tubulin complex protein 4 + GCP4 + gamma-ring complex protein 76 kDa + + + gene with protein product + + + + OMIM + 609610 + + + Reactome + Q9UGJ1 + + + SwissProt + Q9UGJ1 + + + Ensembl + ENSG00000137822 + + + Genatlas + TUBGCP4 + + + HGNC + 16691 + + + ClinVar + TUBGCP4 + + + + + 15q15.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2524 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2524 + Pontocerebellar hypoplasia type 2 + + Malformation syndrome + + + Disorder + + + + 27392077[PMID] + + tRNA splicing endonuclease subunit 15 + TSEN15 + + + + gene with protein product + + + + HGNC + 16791 + + + OMIM + 608756 + + + SwissProt + Q8WW01 + + + Genatlas + TSEN15 + + + Reactome + Q8WW01 + + + Ensembl + ENSG00000198860 + + + ClinVar + TSEN15 + + + + + 1q25.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 20301773[PMID] + + tRNA splicing endonuclease subunit 54 + TSEN54 + + SEN54 + SEN54L + + + gene with protein product + + + + Ensembl + ENSG00000182173 + + + Genatlas + TSEN54 + + + HGNC + 27561 + + + OMIM + 608755 + + + Reactome + Q7Z6J9 + + + ClinVar + TSEN54 + + + SwissProt + Q7Z6J9 + + + + + 17q25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 18711368[PMID] + + tRNA splicing endonuclease subunit 34 + TSEN34 + + SEN34 + SEN34L + 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Genatlas + SEPSECS + + + HGNC + 30605 + + + OMIM + 613009 + + + Reactome + Q9HD40 + + + SwissProt + Q9HD40 + + + + + 4p15.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2526 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2526 + Microcephaly-lymphedema-chorioretinopathy syndrome + + Malformation syndrome + + + Disorder + + + + 22284827[PMID] + + kinesin family member 11 + KIF11 + + Eg5 + HKSP + TRIP5 + + + gene with protein product + + + + Ensembl + ENSG00000138160 + + + Genatlas + KIF11 + + + HGNC + 6388 + + + OMIM + 148760 + + + Reactome + P52732 + + + SwissProt + P52732 + + + IUPHAR + 2788 + + + ClinVar + KIF11 + + + + + 10q23.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2554 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2554 + Ear-patella-short stature syndrome + + Malformation syndrome + + + Disorder + + + + 23516378[PMID]_21358632[PMID] + + origin recognition complex subunit 4 + ORC4 + + HsORC4 + Orc4p + + + gene with protein product + + + + Ensembl + ENSG00000115947 + + + Genatlas + ORC4 + + + HGNC + 8490 + + + OMIM + 603056 + + + Reactome + O43929 + + + SwissProt + O43929 + + + ClinVar + ORC4 + + + + + 2q23.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 23516378[PMID]_21358632[PMID] + + origin recognition complex subunit 6 + ORC6 + + + + gene with protein product + + + + Ensembl + ENSG00000091651 + + + Genatlas + ORC6 + + + HGNC + 17151 + + + OMIM + 607213 + + + Reactome + Q9Y5N6 + + + SwissProt + Q9Y5N6 + + + ClinVar + ORC6 + + + + + 16q11.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 23516378[PMID]_21358632[PMID] + + chromatin licensing and DNA replication factor 1 + CDT1 + + DUP + RIS2 + + + gene with protein product + + + + ClinVar + CDT1 + + + Ensembl + ENSG00000167513 + + + Genatlas + CDT1 + + + HGNC + 24576 + + + OMIM + 605525 + + + Reactome + Q9H211 + + + SwissProt + Q9H211 + + + + + 16q24.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 23516378[PMID]_21358632[PMID] + + cell division cycle 6 + CDC6 + + + + gene with protein product + + + + ClinVar + CDC6 + + + OMIM + 602627 + + + Reactome + Q99741 + + + SwissProt + Q99741 + + + Ensembl + ENSG00000094804 + + + Genatlas + CDC6 + + + HGNC + 1744 + + + + + 17q21.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 23516378[PMID]_21358632[PMID] + + origin recognition complex subunit 1 + ORC1 + + HSORC1 + PARC1 + origin recognition complex 1 + origin recognition complex, subunit 1, S. cerevisiae, homolog-like + replication control protein 1 + + + gene with protein product + + + + ClinVar + ORC1 + + + Ensembl + ENSG00000085840 + + + Genatlas + ORC1 + + + HGNC + 8487 + + + OMIM + 601902 + + + Reactome + Q13415 + + + SwissProt + Q13415 + + + + + 1p32.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 26637980[PMID] + + geminin DNA replication inhibitor + GMNN + + Gem + + + gene with protein product + + + + Ensembl + ENSG00000112312 + + + Genatlas + GMNN + + + HGNC + 17493 + + + OMIM + 602842 + + + Reactome + O75496 + + + SwissProt + O75496 + + + ClinVar + GMNN + + + + + 6p22.3 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 27374770[PMID] + + cell division cycle 45 + CDC45 + + human CDC45 + + + gene with protein product + + + + ClinVar + CDC45 + + + HGNC + 1739 + + + OMIM + 603465 + + + Genatlas + CDC45 + + + SwissProt + O75419 + + + Reactome + O75419 + + + Ensembl + ENSG00000093009 + + + + + 22q11.21 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 2556 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2556 + Microphthalmia with linear skin defects syndrome + + Malformation syndrome + + + Disorder + + + + 17033964[PMID] + + holocytochrome c synthase + HCCS + + CCHL + cytochrome c heme-lyase + holocytochrome-c synthetase + + + gene with protein product + + + + ClinVar + HCCS + + + Ensembl + ENSG00000004961 + + + Genatlas + HCCS + + + HGNC + 4837 + + + OMIM + 300056 + + + SwissProt + P53701 + + + + + Xp22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23122588[PMID] + + cytochrome c oxidase subunit 7B + COX7B + + + + gene with protein product + + + + Ensembl + ENSG00000131174 + + + Genatlas + COX7B + + + HGNC + 2291 + + + OMIM + 300885 + + + Reactome + P24311 + + + SwissProt + P24311 + + + ClinVar + COX7B + + + + + Xq21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 25772934[PMID] + + NADH:ubiquinone oxidoreductase subunit B11 + NDUFB11 + + ESSS + NP17.3 + Np15 + complex I NP17.3 subunit + + + gene with protein product + + + + Ensembl + ENSG00000147123 + + + Genatlas + NDUFB11 + + + HGNC + 20372 + + + OMIM + 300403 + + + Reactome + Q9NX14 + + + SwissProt + Q9NX14 + + + ClinVar + NDUFB11 + + + + + Xp11.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 575 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=575 + Muckle-Wells syndrome + + Disease + + + Disorder + + + + 11687797[PMID] + + NLR family pyrin domain containing 3 + NLRP3 + + AGTAVPRL + AII + AVP + CLR1.1 + Cryopyrin + FCAS + FCU + MWS + NALP3 + PYPAF1 + nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3 + + + gene with protein product + + + + Ensembl + ENSG00000162711 + + + Genatlas + NLRP3 + + + HGNC + 16400 + + + OMIM + 606416 + + + Reactome + Q96P20 + + + SwissProt + Q96P20 + + + IUPHAR + 1770 + + + ClinVar + NLRP3 + + + + + 1q44 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2573 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2573 + Moyamoya disease + + Disease + + + Disorder + + + + 34125151[PMID] + + diaphanous related formin 1 + DIAPH1 + + LFHL1 + hDIA1 + mDia1 + mammalian diaphanous related formin 1 + + + gene with protein product + + + + Ensembl + ENSG00000131504 + + + Genatlas + DIAPH1 + + + HGNC + 2876 + + + OMIM + 602121 + + + Reactome + O60610 + + + SwissProt + O60610 + + + ClinVar + DIAPH1 + + + + + 5q31.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 19409525[PMID]_20970362[PMID] + + actin alpha 2, smooth muscle + ACTA2 + + ACTSA + + + gene with protein product + + + + ClinVar + ACTA2 + + + Ensembl + ENSG00000107796 + + + Genatlas + ACTA2 + + + HGNC + 130 + + + OMIM + 102620 + + + Reactome + P62736 + + + SwissProt + P62736 + + + + + 10q23.31 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 21048783[PMID]_21799892[PMID]_22377813[PMID] + + ring finger protein 213 + RNF213 + + KIAA1554 + NET57 + ALK lymphoma oligomerization partner on chromosome 17 + ALO17 + mysterin + + + gene with protein product + + + + ClinVar + RNF213 + + + Reactome + Q63HN8 + + + Ensembl + ENSG00000173821 + + + Genatlas + RNF213 + + + HGNC + 14539 + + + OMIM + 613768 + + + SwissProt + Q63HN8 + + + + + 17q25.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 2570 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2570 + Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome + + Malformation syndrome + + + Disorder + + + + 28612833[PMID] + + G-patch domain and KOW motifs + GPKOW + + T54 + GPATC5 + GPATCH5 + Spp2 + G patch domain containing 5 + Mos2 + + + gene with protein product + + + + HGNC + 30677 + + + Ensembl + ENSG00000068394 + + + SwissProt + Q92917 + + + Reactome + Q92917 + + + OMIM + 301003 + + + + + Xp11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 261183 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261183 + 15q11.2 microdeletion syndrome + + Malformation syndrome + + + Disorder + + + + 25689425[PMID] + + NIPA magnesium transporter 1 + NIPA1 + + SLC57A1 + MGC35570 + + + gene with protein product + + + + Ensembl + ENSG00000170113 + + + Genatlas + NIPA1 + + + HGNC + 17043 + + + OMIM + 608145 + + + Reactome + Q7RTP0 + + + SwissProt + Q7RTP0 + + + IUPHAR + 3033 + + + ClinVar + NIPA1 + + + + + 15q11.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 25689425[PMID] + + NIPA magnesium transporter 2 + NIPA2 + + SLC57A2 + + + gene with protein product + + + + Genatlas + NIPA2 + + + ClinVar + NIPA2 + + + IUPHAR + 3034 + + + Reactome + Q8N8Q9 + + + HGNC + 17044 + + + OMIM + 608146 + + + Ensembl + ENSG00000140157 + + + SwissProt + Q8N8Q9 + + + + + 15q11.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 25689425[PMID] + + tubulin gamma 1 + TUBG1 + + TUBGCP1 + + + gene with protein product + + + + HGNC + 12417 + + + Genatlas + TUBG1 + + + ClinVar + TUBG1 + + + SwissProt + P23258 + + + Ensembl + ENSG00000131462 + + + OMIM + 191135 + + + Reactome + P23258 + + + + + 17q21.31 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 2585 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2585 + Ataxia-pancytopenia syndrome + + Malformation syndrome + + + Disorder + + + + 27259050[PMID] + + sterile alpha motif domain containing 9 like + SAMD9L + + FLJ39885 + KIAA2005 + + + gene with protein product + + + + HGNC + 1349 + + + OMIM + 611170 + + + Genatlas + SAMD9L + + + ClinVar + SAMD9L + + + SwissProt + Q8IVG5 + + + Ensembl + ENSG00000177409 + + + + + 7q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 261144 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261144 + FOXG1 syndrome due to 14q12 microdeletion + + Clinical subtype + + + Subtype of disorder + + + + 23895774[PMID] + + forkhead box G1 + FOXG1 + + brain factor 1 + BF1 + HBF-3 + HFK1 + HFK2 + HFK3 + QIN + + + gene with protein product + + + + ClinVar + FOXG1 + + + Ensembl + ENSG00000176165 + + + Genatlas + FOXG1 + + + HGNC + 3811 + + + OMIM + 164874 + + + SwissProt + P55316 + + + + + 14q12 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 2578 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2578 + Mayer-Rokitansky-Küster-Hauser syndrome type 2 + + Clinical subtype + + + Subtype of disorder + + + + 36282544[PMID] + + HNF1 homeobox B + HNF1B + + HNF1beta + LFB3 + MODY5 + VHNF1 + HNF1ß + hepatocyte nuclear factor 1 beta + + + gene with protein product + + + + ClinVar + HNF1B + + + Ensembl + ENSG00000275410 + + + Genatlas + HNF1B + + + HGNC + 11630 + + + OMIM + 189907 + + + Reactome + P35680 + + + SwissProt + P35680 + + + + + 17q12 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 18182450[PMID] + + Wnt family member 4 + WNT4 + + WNT-4 + + + gene with protein product + + + + ClinVar + WNT4 + + + Ensembl + ENSG00000162552 + + + Genatlas + WNT4 + + + HGNC + 12783 + + + OMIM + 603490 + + + Reactome + P56705 + + + SwissProt + P56705 + + + + + 1p36.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2576 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2576 + Mulibrey nanism + + Malformation syndrome + + + Disorder + + + + 19347900[PMID] + + tripartite motif containing 37 + TRIM37 + + KIAA0898 + POB1 + RING-B-box-coiled-coil protein + TEF3 + E3 ubiquitin-protein ligase TRIM37 + + + gene with protein product + + + + ClinVar + TRIM37 + + + Ensembl + ENSG00000108395 + + + Genatlas + TRIM37 + + + HGNC + 7523 + + + OMIM + 605073 + + + Reactome + O94972 + + + SwissProt + O94972 + + + + + 17q22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 261222 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261222 + Distal 16p11.2 microdeletion syndrome + + Malformation syndrome + + + Disorder + + + + + + SH2B adaptor protein 1 + SH2B1 + + FLJ30542 + SH2-B homolog + SH2B + + + gene with protein product + + + + HGNC + 30417 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Genatlas + PDE11A + + + HGNC + 8773 + + + OMIM + 604961 + + + Reactome + Q9HCR9 + + + SwissProt + Q9HCR9 + + + IUPHAR + 1311 + + + ClinVar + PDE11A + + + + + 2q31.2 + 1 + + + + + Modifying germline mutation in + + + Assessed + + + + + + 2593 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2593 + Tubular aggregate myopathy + + Disease + + + Disorder + + + + 24591628[PMID] + + ORAI calcium release-activated calcium modulator 1 + ORAI1 + + CRACM1 + FLJ14466 + calcium release-activated calcium modulator 1 + + + gene with protein product + + + + Ensembl + ENSG00000276045 + + + Genatlas + ORAI1 + + + HGNC + 25896 + + + OMIM + 610277 + + + Reactome + Q96D31 + + + SwissProt + Q96D31 + + + IUPHAR + 2964 + + + ClinVar + ORAI1 + + + + + 12q24.31 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 23332920[PMID] + + stromal interaction molecule 1 + STIM1 + + D11S4896E + GOK + + + gene with protein product + + + + Genatlas + STIM1 + + + HGNC + 11386 + + + OMIM + 605921 + + + Reactome + Q13586 + + + SwissProt + Q13586 + + + Ensembl + ENSG00000167323 + + + ClinVar + STIM1 + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 28895244[PMID]_29039140[PMID] + + calsequestrin 1 + CASQ1 + + CSQ1 + PDIB1 + calmitine + calsequestrin 1, fast-twitch, skeletal muscle + + + gene with protein product + + + + Ensembl + ENSG00000143318 + + + Genatlas + CASQ1 + + + HGNC + 1512 + + + OMIM + 114250 + + + Reactome + P31415 + + + SwissProt + P31415 + + + ClinVar + CASQ1 + + + + + 1q23.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 261229 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261229 + 14q11.2 microduplication syndrome + + Malformation syndrome + + + Disorder + + + + 31823155[PMID]_26834018[PMID] + + chromodomain helicase DNA binding protein 8 + CHD8 + + DUPLIN + KIAA1564 + + + gene with protein product + + + + Ensembl + ENSG00000100888 + + + Genatlas + CHD8 + + + HGNC + 20153 + + + OMIM + 610528 + + + Reactome + Q9HCK8 + + + SwissProt + Q9HCK8 + + + ClinVar + CHD8 + + + + + 14q11.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 31823155[PMID]_26834018[PMID] + + SPT16 homolog, facilitates chromatin remodeling subunit + SUPT16H + + FACT + FACTP140 + SPT16/CDC68 + FLJ14010 + FLJ10857 + CDC68 + facilitates chromatin remodeling 140 kDa subunit + + + gene with protein product + + + + Ensembl + ENSG00000092201 + + + OMIM + 605012 + + + Reactome + Q9Y5B9 + + + SwissProt + Q9Y5B9 + + + HGNC + 11465 + + + + + 14q11.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 2590 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2590 + Spinal muscular atrophy-progressive myoclonic epilepsy syndrome + + Disease + + + Disorder + + + + 22703880[PMID] + + N-acylsphingosine amidohydrolase 1 + ASAH1 + + AC + FLJ21558 + PHP32 + ACDase + acid ceramidase + acylsphingosine deacylase + + 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disability syndrome due to 15q14 microdeletion + + Clinical subtype + + + Subtype of disorder + + + + 21504564[PMID]_20425846[PMID]_18561338[PMID]_18458017[PMID]_17163532[PMID]_24678003[PMID] + + Meis homeobox 2 + MEIS2 + + HsT18361 + MRG1 + + + gene with protein product + + + + ClinVar + MEIS2 + + + Ensembl + ENSG00000134138 + + + Genatlas + MEIS2 + + + HGNC + 7001 + + + OMIM + 601740 + + + SwissProt + O14770 + + + + + 15q14 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 261197 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261197 + Proximal 16p11.2 microdeletion syndrome + + Malformation syndrome + + + Disorder + + + + + + SH2B adaptor protein 1 + SH2B1 + + FLJ30542 + SH2-B homolog + SH2B + + + gene with protein product + + + + HGNC + 30417 + + + OMIM + 608937 + + + Reactome + Q9NRF2 + + + SwissProt + Q9NRF2 + + + ClinVar + SH2B1 + + + Ensembl + ENSG00000178188 + + + Genatlas + SH2B1 + + + + + 16p11.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 261295 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261295 + 20p12.3 microdeletion syndrome + + Malformation syndrome + + + Disorder + + + + 18812404[PMID]_21671386[PMID] + + bone morphogenetic protein 2 + BMP2 + + + + gene with protein product + + + + ClinVar + BMP2 + + + Ensembl + ENSG00000125845 + + + Genatlas + BMP2 + + + HGNC + 1069 + + + OMIM + 112261 + + + Reactome + P12643 + + + SwissProt + P12643 + + + + + 20p12.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 261279 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261279 + 17q23.1q23.2 microdeletion syndrome + + Malformation syndrome + + + Disorder + + + + 21271665[PMID] + + T-box transcription factor 4 + TBX4 + + + + gene with protein product + + + + Ensembl + ENSG00000121075 + + + Genatlas + TBX4 + + + HGNC + 11603 + + + OMIM + 601719 + + + SwissProt + P57082 + + + ClinVar + TBX4 + + + + + 17q23.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 261265 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261265 + 17q12 microdeletion syndrome + + Malformation syndrome + + + Disorder + + + + + + HNF1 homeobox B + HNF1B + + HNF1beta + LFB3 + MODY5 + VHNF1 + HNF1ß + hepatocyte nuclear factor 1 beta + + + gene with protein product + + + + ClinVar + HNF1B + + + Ensembl + ENSG00000275410 + + + Genatlas + HNF1B + + + HGNC + 11630 + + + OMIM + 189907 + + + Reactome + P35680 + + + SwissProt + P35680 + + + + + 17q12 + 1 + + + + + Role in the phenotype of + + + Not yet assessed + + + + 22740494[PMID] + + LIM homeobox 1 + LHX1 + + LIM-1 + LIM1 + LIM/homeobox protein Lhx1 + + + gene with protein product + + + + Ensembl + ENSG00000273706 + + + Genatlas + LHX1 + + + HGNC + 6593 + + + OMIM + 601999 + + + SwissProt + P48742 + + + ClinVar + LHX1 + + + + + 17q12 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 2616 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2616 + 3M syndrome + + Malformation syndrome + + + Disorder + + + + 20301654[PMID] + + cullin 7 + CUL7 + + dJ20C7.5 + + + gene with protein product + + + + ClinVar + CUL7 + + + Ensembl + ENSG00000044090 + + + Genatlas + CUL7 + + + HGNC + 21024 + + + OMIM + 609577 + + + Reactome + Q14999 + + + SwissProt + Q14999 + + + + + 6p21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301654[PMID] + + obscurin like cytoskeletal adaptor 1 + OBSL1 + + KIAA0657 + + + gene with protein product + + + + Reactome + O75147 + + + Ensembl + ENSG00000124006 + + + Genatlas + OBSL1 + + + HGNC + 29092 + + + OMIM + 610991 + + + SwissProt + O75147 + + + ClinVar + OBSL1 + + + + + 2q35 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301654[PMID]_21737058[PMID] + + coiled-coil domain containing 8 subunit of 3M complex + CCDC8 + + p90 + 3M3 + DKFZp564K0322 + PPP1R20 + protein phosphatase 1, regulatory subunit 20 + + + gene with protein product + + + + ClinVar + CCDC8 + + + Ensembl + ENSG00000169515 + + + Genatlas + CCDC8 + + + HGNC + 25367 + + + OMIM + 614145 + + + SwissProt + Q9H0W5 + + + Reactome + Q9H0W5 + + + + + 19q13.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 261250 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261250 + 16q24.3 microdeletion syndrome + + Malformation syndrome + + + Disorder + + + + + + ankyrin repeat domain 11 + ANKRD11 + + LZ16 + T13 + ankyrin repeats containing cofactor 1 + ANCO-1 + ANCO1 + + + gene with protein product + + + + ClinVar + ANKRD11 + + + Ensembl + ENSG00000167522 + + + Genatlas + ANKRD11 + + + HGNC + 21316 + + + OMIM + 611192 + + + SwissProt + Q6UB99 + + + + + 16q24.3 + 1 + + + + + Role in the phenotype of + + + Not yet assessed + + + + + + 2613 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2613 + Nail-patella-like renal disease + + Disease + + + Disorder + + + + 25713721[PMID]_24042019[PMID] + + LIM homeobox transcription factor 1 beta + LMX1B + + + + gene with protein product + + + + ClinVar + LMX1B + + + Ensembl + ENSG00000136944 + + + Genatlas + LMX1B + + + HGNC + 6654 + + + OMIM + 602575 + + + SwissProt + O60663 + + + + + 9q33.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 261257 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261257 + Distal 17p13.3 microdeletion syndrome + + Malformation syndrome + + + Disorder + + + + 20599530[PMID] + + tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon + YWHAE + + 14-3-3 epsilon + FLJ45465 + + + gene with protein product + + + + ClinVar + YWHAE + + + Ensembl + ENSG00000108953 + + + Genatlas + YWHAE + + + HGNC + 12851 + + + OMIM + 605066 + + + Reactome + P62258 + + + SwissProt + P62258 + + + + + 17p13.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 2623 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2623 + Geleophysic dysplasia + + Malformation syndrome + + + Disorder + + + + 20301776[PMID]_21683322[PMID] + + fibrillin 1 + FBN1 + + MASS + Marfan syndrome + OCTD + SGS + asprosin + + + gene with protein product + + + + ClinVar + FBN1 + + + Ensembl + ENSG00000166147 + + + Genatlas + FBN1 + + + HGNC + 3603 + + + OMIM + 134797 + + + Reactome + P35555 + + + SwissProt + P35555 + + + + + 15q21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301776[PMID] + + ADAMTS like 2 + ADAMTSL2 + + KIAA0605 + + + gene with protein product + + + + ClinVar + ADAMTSL2 + + + Ensembl + ENSG00000197859 + + + Genatlas + ADAMTSL2 + + + HGNC + 14631 + + + OMIM + 612277 + + + Reactome + Q86TH1 + + + SwissProt + Q86TH1 + + + + + 9q34.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 27068007[PMID] + + latent transforming growth factor beta binding protein 3 + LTBP3 + + + + gene with protein product + + + + ClinVar + LTBP3 + + + Ensembl + ENSG00000168056 + + + Genatlas + LTBP3 + + + HGNC + 6716 + + + OMIM + 602090 + + + Reactome + Q9NS15 + + + SwissProt + Q9NS15 + + + + + 11q13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 261330 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261330 + Distal 22q11.2 microdeletion syndrome + + Malformation syndrome + + + Disorder + + + + + + BCR activator of RhoGEF and GTPase + BCR + + ALL + CML + D22S662 + PHL + + + gene with protein product + + + + ClinVar + BCR + + + Ensembl + ENSG00000186716 + + + Genatlas + BCR + + + HGNC + 1014 + + + IUPHAR + 2755 + + + OMIM + 151410 + + + Reactome + P11274 + + + SwissProt + P11274 + + + + + 22q11.23 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + mitogen-activated protein kinase 1 + MAPK1 + + Extracellular signal-regulated kinase 2 + ERK + ERK2 + MAPK2 + p41mapk + + + gene with protein product + + + + Ensembl + ENSG00000100030 + + + Genatlas + MAPK1 + + + HGNC + 6871 + + + IUPHAR + 1495 + + + OMIM + 176948 + + + Reactome + P28482 + + + SwissProt + P28482 + + + ClinVar + MAPK1 + + + + + 22q11.22 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + CRK like proto-oncogene, adaptor protein + CRKL + + + + gene with protein product + + + + OMIM + 602007 + + + Reactome + P46109 + + + SwissProt + P46109 + + + Ensembl + ENSG00000099942 + + + Genatlas + CRKL + + + HGNC + 2363 + + + ClinVar + CRKL + + + + + 22q11.21 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 261323 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261323 + 21q22.11q22.12 microdeletion syndrome + + Malformation syndrome + + + Disorder + + + + 28150392[PMID]_27549381[PMID] + + kinesin family member 15 + KIF15 + + HKLP2 + NY-BR-62 + + + gene with protein product + + + + HGNC + 17273 + + + Ensembl + ENSG00000163808 + + + SwissProt + Q9NS87 + + + OMIM + 617569 + + + Genatlas + KIF15 + + + Reactome + Q9NS87 + + + ClinVar + KIF15 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 2639 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2639 + Fibular aplasia-complex brachydactyly syndrome + + Malformation syndrome + + + Disorder + + + + 26105076[PMID] + + bone morphogenetic protein receptor type 1B + BMPR1B + + ALK6 + CDw293 + + + gene with protein product + + + + Ensembl + ENSG00000138696 + + + Genatlas + BMPR1B + + + HGNC + 1077 + + + IUPHAR + 1789 + + + OMIM + 603248 + + + Reactome + O00238 + + + SwissProt + O00238 + + + ClinVar + BMPR1B + + + + + 4q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 16222676[PMID] + + growth differentiation factor 5 + GDF5 + + BMP14 + CDMP1 + cartilage-derived morphogenetic protein-1 + + + gene with protein product + + + + ClinVar + GDF5 + + + OMIM + 601146 + + + Reactome + P43026 + + + SwissProt + P43026 + + + Ensembl + ENSG00000125965 + + + Genatlas + GDF5 + + + HGNC + 4220 + + + + + 20q11.22 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 261483 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261483 + Xq27.3q28 duplication syndrome + + Malformation syndrome + + + Disorder + + + + 19844254[PMID] + + fragile X messenger ribonucleoprotein 1 + FMR1 + + FMRP + FRAXA + MGC87458 + + + gene with protein product + + + + Ensembl + ENSG00000102081 + + + Genatlas + FMR1 + + + HGNC + 3775 + + + OMIM + 309550 + + + SwissProt + Q06787 + + + ClinVar + FMR1 + + + + + Xq27.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 2632 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2632 + Langer mesomelic dysplasia + + Malformation syndrome + + + Disorder + + + + 12116254[PMID]_20301394[PMID] + + SHOX homeobox + SHOX + + GCFX + PHOG + SHOXY + SS + SHOX1 + pseudoautosomal homeobox-containing osteogenic gene + + + gene with protein product + + + + ClinVar + SHOX + + + OMIM + 312865 + + + OMIM + 400020 + + + SwissProt + O15266 + + + Ensembl + ENSG00000185960 + + + Genatlas + SHOX + + + HGNC + 10853 + + + + + Xp22.33 and Yp11.32 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 2645 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2645 + Osteoglosphonic dysplasia + + Malformation syndrome + + + Disorder + + + + 15625620[PMID] + + fibroblast growth factor receptor 1 + FGFR1 + + BFGFR + CD331 + CEK + FLG + H2 + H3 + H4 + H5 + N-SAM + Pfeiffer syndrome + + + gene with protein product + + + + Ensembl + ENSG00000077782 + + + Genatlas + FGFR1 + + + HGNC + 3688 + + + IUPHAR + 1808 + + + OMIM + 136350 + + + Reactome + P11362 + + + SwissProt + P11362 + + + ClinVar + FGFR1 + + + + + 8p11.23 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 261584 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261584 + 5q22 microdeletion syndrome + + Disease + + + Disorder + + + + 20301519[PMID] + + APC regulator of Wnt signaling pathway + APC + + DP2 + DP2.5 + DP3 + PPP1R46 + protein phosphatase 1, regulatory subunit 46 + + + gene with protein product + + + + Ensembl + ENSG00000134982 + + + Genatlas + APC + + + HGNC + 583 + + + OMIM + 611731 + + + Reactome + P25054 + + + SwissProt + P25054 + + + ClinVar + APC + + + + + 5q22.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 261600 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600 + Alagille syndrome due to 20p12 microdeletion + + Etiological subtype + + + Subtype of disorder + + + + 21934706[PMID] + + jagged canonical Notch ligand 1 + JAG1 + + AHD + AWS + CD339 + HJ1 + + + gene with protein product + + + + Ensembl + ENSG00000101384 + + + Genatlas + JAG1 + + + HGNC + 6188 + + + OMIM + 601920 + + + Reactome + P78504 + + + SwissProt + P78504 + + + ClinVar + JAG1 + + + + + 20p12.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 261619 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619 + Alagille syndrome due to a JAG1 point mutation + + Etiological subtype + + + Subtype of disorder + + + + 21934706[PMID] + + jagged canonical Notch ligand 1 + JAG1 + + AHD + AWS + CD339 + HJ1 + + + gene with protein product + + + + Ensembl + ENSG00000101384 + + + Genatlas + JAG1 + + + HGNC + 6188 + + + OMIM + 601920 + + + Reactome + P78504 + + + SwissProt + P78504 + + + ClinVar + JAG1 + + + + + 20p12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 261537 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261537 + Mowat-Wilson syndrome due to monosomy 2q22 + + Etiological subtype + + + Subtype of disorder + + + + 20301585[PMID] + + zinc finger E-box binding homeobox 2 + ZEB2 + + KIAA0569 + SIP-1 + SIP1 + SMAD interacting protein 1 + + + gene with protein product + + + + Reactome + O60315 + + + ClinVar + ZEB2 + + + Ensembl + ENSG00000169554 + + + Genatlas + ZEB2 + + + HGNC + 14881 + + + OMIM + 605802 + + + SwissProt + O60315 + + + + + 2q22.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 261552 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261552 + Mowat-Wilson syndrome due to a ZEB2 point mutation + + Etiological subtype + + + Subtype of disorder + + + + 20301585[PMID] + + zinc finger E-box binding homeobox 2 + ZEB2 + + KIAA0569 + SIP-1 + SIP1 + SMAD interacting protein 1 + + + gene with protein product + + + + Reactome + O60315 + + + ClinVar + ZEB2 + + + Ensembl + ENSG00000169554 + + + Genatlas + ZEB2 + + + HGNC + 14881 + + + OMIM + 605802 + + + SwissProt + O60315 + + + + + 2q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2636 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2636 + Microcephalic osteodysplastic primordial dwarfism types I and III + + Malformation syndrome + + + Disorder + + + + 21815888[PMID]_23794361[PMID] + + RNA, U4atac small nuclear + RNU4ATAC + + U4atac snRNA + U4atac + RNU4ATAC1 + + + Non-coding RNA + + + + ClinVar + RNU4ATAC + + + Ensembl + ENSG00000264229 + + + Genatlas + RNU4ATAC + + + HGNC + 34016 + + + OMIM + 601428 + + + + + 2q14.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2658 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2658 + Lenz-Majewski hyperostotic dysplasia + + Malformation syndrome + + + Disorder + + + + 24241535[PMID] + + phosphatidylserine synthase 1 + PTDSS1 + + KIAA0024 + PSS1 + PSSA + + + gene with protein product + + + + Ensembl + ENSG00000156471 + + + Genatlas + PTDSS1 + + + HGNC + 9587 + + + OMIM + 612792 + + + Reactome + P48651 + + + SwissProt + P48651 + + + ClinVar + PTDSS1 + + + + + 8q22.1 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 261629 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629 + Alagille syndrome due to a NOTCH2 point mutation + + Etiological subtype + + + Subtype of disorder + + + + 21934706[PMID] + + notch receptor 2 + NOTCH2 + + + + gene with protein product + + + + Ensembl + ENSG00000134250 + + + Genatlas + NOTCH2 + + + HGNC + 7882 + + + OMIM + 600275 + + + Reactome + Q04721 + + + SwissProt + Q04721 + + + ClinVar + NOTCH2 + + + IUPHAR + 2859 + + + + + 1p12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 261638 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261638 + Okihiro syndrome due to 20q13 microdeletion + + Etiological subtype + + + Subtype of disorder + + + + 16086360[PMID]_20301547[PMID] + + spalt like transcription factor 4 + SALL4 + + ZNF797 + dJ1112F19.1 + + + gene with protein product + + + + ClinVar + SALL4 + + + Ensembl + ENSG00000101115 + + + Genatlas + SALL4 + + + HGNC + 15924 + + + OMIM + 607343 + + + Reactome + Q9UJQ4 + + + SwissProt + Q9UJQ4 + + + + + 20q13.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 261647 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261647 + Okihiro syndrome due to a point mutation + + Etiological subtype + + + Subtype of disorder + + + + 16086360[PMID]_20301547[PMID] + + spalt like transcription factor 4 + SALL4 + + ZNF797 + dJ1112F19.1 + + + gene with protein product + + + + ClinVar + SALL4 + + + Ensembl + ENSG00000101115 + + + Genatlas + SALL4 + + + HGNC + 15924 + + + OMIM + 607343 + + + Reactome + Q9UJQ4 + + + SwissProt + Q9UJQ4 + + + + + 20q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 261652 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261652 + Kleefstra syndrome due to a point mutation + + Etiological subtype + + + Subtype of disorder + + + + 29069077[PMID] + + lysine methyltransferase 2C + KMT2C + + HALR + KIAA1506 + Histone-lysine N-methyltransferase 2C + + + gene with protein product + + + + ClinVar + KMT2C + + + HGNC + 13726 + + + Ensembl + ENSG00000055609 + + + SwissProt + Q8NEZ4 + + + OMIM + 606833 + + + Reactome + Q8NEZ4 + + + Genatlas + KMT2C + + + IUPHAR + 2690 + + + + + 7q36.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 20945554[PMID] + + euchromatic histone lysine methyltransferase 1 + EHMT1 + + FLJ40292 + GLP + Eu-HMTase1 + FLJ12879 + KIAA1876 + KMT1D + bA188C12.1 + + + gene with protein product + + + + Genatlas + EHMT1 + + + HGNC + 24650 + + + OMIM + 607001 + + + Reactome + Q9H9B1 + + + SwissProt + Q9H9B1 + + + Ensembl + ENSG00000181090 + + + IUPHAR + 2651 + + + ClinVar + EHMT1 + + + + + 9q34.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 3057 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3057 + Monoamine oxidase A deficiency + + Disease + + + Disorder + + + + 8211186[PMID]_24169519[PMID] + + monoamine oxidase A + MAOA + + + + gene with protein product + + + + Ensembl + ENSG00000189221 + + + Genatlas + MAOA + + + HGNC + 6833 + + + OMIM + 309850 + + + Reactome + P21397 + + + SwissProt + P21397 + + + ClinVar + MAOA + + + IUPHAR + 2489 + + + + + Xp11.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3047 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047 + Blepharophimosis-intellectual disability syndrome, SBBYS type + + Malformation syndrome + + + Disorder + + + + 22715153[PMID]_23236640[PMID] + + lysine acetyltransferase 6B + KAT6B + + qkf + querkopf + MOZ-related factor + MOZ2 + Morf + ZC2HC6B + + + gene with protein product + + + + ClinVar + KAT6B + + + OMIM + 605880 + + + Reactome + Q8WYB5 + + + SwissProt + Q8WYB5 + + + Ensembl + ENSG00000156650 + + + Genatlas + KAT6B + + + HGNC + 17582 + + + IUPHAR + 2666 + + + + + 10q22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3042 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3042 + Intellectual disability-cataracts-calcified pinnae-myopathy syndrome + + Malformation syndrome + + + Disorder + + + + 25017102[PMID] + + zinc finger and BTB domain containing 20 + ZBTB20 + + DKFZp566F123 + DPZF + ODA-8S + + + gene with protein product + + + + Ensembl + ENSG00000181722 + + + Genatlas + ZBTB20 + + + HGNC + 13503 + + + OMIM + 606025 + + + SwissProt + Q9HC78 + + + ClinVar + ZBTB20 + + + + + 3q13.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 263662 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263662 + Familial multiple meningioma + + Disease + + + Disorder + + + + 20930055[PMID] + + SWI/SNF related BAF chromatin remodeling complex subunit B1 + SMARCB1 + + BAF47 + Ini1 + PPP1R144 + RDT + Sfh1p + Snr1 + hSNFS + integrase interactor 1 + malignant rhabdoid tumor suppressor + protein phosphatase 1, regulatory subunit 144 + sucrose nonfermenting, yeast, homolog-like 1 + INI-1 + SNF5 + + + gene with protein product + + + + ClinVar + SMARCB1 + + + Reactome + Q12824 + + + SwissProt + Q12824 + + + Ensembl + ENSG00000099956 + + + Genatlas + SMARCB1 + + + HGNC + 11103 + + + OMIM + 601607 + + + + + 22q11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22958902[PMID] + + SUFU negative regulator of hedgehog signaling + SUFU + + PRO1280 + SUFUH + SUFUXL + + + gene with protein product + + + + Reactome + Q9UMX1 + + + SwissProt + Q9UMX1 + + + Ensembl + ENSG00000107882 + + + Genatlas + SUFU + + + HGNC + 16466 + + + OMIM + 607035 + + + ClinVar + SUFU + + + + + 10q24.32 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 23377182[PMID] + + SWI/SNF related BAF chromatin remodeling complex subunit E1 + SMARCE1 + + BAF57 + + + gene with protein product + + + + ClinVar + SMARCE1 + + + Ensembl + ENSG00000073584 + + + Genatlas + SMARCE1 + + + HGNC + 11109 + + + OMIM + 603111 + + + Reactome + Q969G3 + + + SwissProt + Q969G3 + + + + + 17q21.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + MN1 proto-oncogene, transcriptional regulator + MN1 + + MGCR1 + MGCR1-PEN + probable tumor suppressor protein MN1 + + + gene with protein product + + + + Ensembl + ENSG00000169184 + + + Genatlas + MN1 + + + HGNC + 7180 + + + OMIM + 156100 + + + SwissProt + Q10571 + + + ClinVar + MN1 + + + + + 22q12.1 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 3969118[PMID] + + platelet derived growth factor subunit B + PDGFB + + SSV + becaplermin + oncogene SIS + + + gene with protein product + + + + ClinVar + PDGFB + + + Ensembl + ENSG00000100311 + + + Genatlas + PDGFB + + + HGNC + 8800 + + + OMIM + 190040 + + + Reactome + P01127 + + + SwissProt + P01127 + + + + + 22q13.1 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 263548 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263548 + Peeling skin syndrome type A + + Clinical subtype + + + Subtype of disorder + + + + 28884927[PMID] + + filaggrin 2 + FLG2 + + IFPS + ifapsoriasin + + + gene with protein product + + + + HGNC + 33276 + + + Ensembl + ENSG00000143520 + + + SwissProt + Q5D862 + + + OMIM + 616284 + + + Genatlas + FLG2 + + + Reactome + Q5D862 + + + ClinVar + FLG2 + + + + + 1q21.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 22289416[PMID] + + carbohydrate sulfotransferase 8 + CHST8 + + GALNAC4ST-1 + GALNAC-4-ST1 + + + gene with protein product + + + + OMIM + 610190 + + + Reactome + Q9H2A9 + + + SwissProt + Q9H2A9 + + + ClinVar + CHST8 + + + Ensembl + ENSG00000124302 + + + Genatlas + CHST8 + + + HGNC + 15993 + + + + + 19q13.11 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 27476651[PMID] + + serpin family B member 8 + SERPINB8 + + CAP2 + cytoplasmic antiproteinase 2 + + + gene with protein product + + + + OMIM + 601697 + + + Genatlas + SERPINB8 + + + SwissProt + P50452 + + + Reactome + P50452 + + + Ensembl + ENSG00000166401 + + + HGNC + 8952 + + + ClinVar + SERPINB8 + + + + + 18q22.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 263553 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263553 + Peeling skin syndrome type B + + Clinical subtype + + + Subtype of disorder + + + + + + corneodesmosin + CDSN + + D6S586E + + + gene with protein product + + + + Ensembl + ENSG00000204539 + + + Genatlas + CDSN + + + HGNC + 1802 + + + OMIM + 602593 + + + SwissProt + Q15517 + + + ClinVar + CDSN + + + Reactome + Q15517 + + + + + 6p21.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3032 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3032 + NPHP3-related Meckel-like syndrome + + Malformation syndrome + + + Disorder + + + + 18371931[PMID] + + nephrocystin 3 + NPHP3 + + CFAP31 + FLJ30691 + FLJ36696 + KIAA2000 + MKS7 + Meckel syndrome, type 7 + NPH3 + SLSN3 + cilia and flagella associated protein 31 + + + gene with protein product + + + + ClinVar + NPHP3 + + + Ensembl + ENSG00000113971 + + + Genatlas + NPHP3 + + + HGNC + 7907 + + + OMIM + 608002 + + + Reactome + Q7Z494 + + + SwissProt + Q7Z494 + + + + + 3q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 263534 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263534 + Acral peeling skin syndrome + + Disease + + + Disorder + + + + 26684698[PMID] + + cystatin A + CSTA + + stefin A + + + gene with protein product + + + + Reactome + P01040 + + + Ensembl + ENSG00000121552 + + + Genatlas + CSTA + + + HGNC + 2481 + + + OMIM + 184600 + + + SwissProt + P01040 + + + ClinVar + CSTA + + + + + 3q21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 9767297[PMID] + + transglutaminase 5 + TGM5 + + TGMX + protein-glutamine gamma-glutamyltransferase 5 + TGX + + + gene with protein product + + + + Reactome + O43548 + + + ClinVar + TGM5 + + + Ensembl + ENSG00000104055 + + + Genatlas + TGM5 + + + HGNC + 11781 + + + OMIM + 603805 + + + SwissProt + O43548 + + + + + 15q15.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 263516 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263516 + Progressive myoclonic epilepsy type 3 + + Disease + + + Disorder + + + + 22693283[PMID]_22748208[PMID] + + potassium channel tetramerization domain containing 7 + KCTD7 + + CLN14 + EPM3 + FLJ32069 + + + gene with protein product + + + + ClinVar + KCTD7 + + + Reactome + Q96MP8 + + + Ensembl + ENSG00000243335 + + + Genatlas + KCTD7 + + + HGNC + 21957 + + + OMIM + 611725 + + + SwissProt + Q96MP8 + + + + + 7q11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 263524 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263524 + Acute necrotizing encephalopathy of childhood + + Disease + + + Disorder + + + + 20934285[PMID] + + carnitine palmitoyltransferase 2 + CPT2 + + CPTASE + + + gene with protein product + + + + Genatlas + CPT2 + + + HGNC + 2330 + + + OMIM + 600650 + + + Reactome + P23786 + + + SwissProt + P23786 + + + Ensembl + ENSG00000157184 + + + IUPHAR + 3252 + + + ClinVar + CPT2 + + + + + 1p32.3 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 19807769[PMID] + + RAN binding protein 2 + RANBP2 + + nucleoporin 358 + ADANE + NUP358 + + + gene with protein product + + + + ClinVar + RANBP2 + + + Ensembl + ENSG00000153201 + + + Genatlas + RANBP2 + + + HGNC + 9848 + + + OMIM + 601181 + + + Reactome + P49792 + + + SwissProt + P49792 + + + + + 2q13 + 1 + + + + + Major susceptibility factor in + + + Not yet assessed + + + + + + 263501 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263501 + COG4-CDG + + Disease + + + Disorder + + + + 20301507[PMID] + + component of oligomeric golgi complex 4 + COG4 + + COD1 + DKFZP586E1519 + + + gene with protein product + + + + ClinVar + COG4 + + + OMIM + 606976 + + + Reactome + Q9H9E3 + + + SwissProt + Q9H9E3 + + + Ensembl + ENSG00000103051 + + + Genatlas + COG4 + + + HGNC + 18620 + + + + + 16q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 263508 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508 + COG1-CDG + + Disease + + + Disorder + + + + 20301507[PMID] + + component of oligomeric golgi complex 1 + COG1 + + KIAA1381 + + + gene with protein product + + + + ClinVar + COG1 + + + HGNC + 6545 + + + OMIM + 606973 + + + Reactome + Q8WTW3 + + + SwissProt + Q8WTW3 + + + Ensembl + ENSG00000166685 + + + Genatlas + COG1 + + + + + 17q25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 263482 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263482 + Spondyloepimetaphyseal dysplasia, Maroteaux type + + Disease + + + Disorder + + + + 20503319[PMID]_24830047[PMID] + + transient receptor potential cation channel subfamily V member 4 + TRPV4 + + CMT2C + OTRPC4 + TRP12 + VR-OAC + VRL-2 + VROAC + osmosensitive transient receptor potential channel 4 + + + gene with protein product + + + + Ensembl + ENSG00000111199 + + + Genatlas + TRPV4 + + + HGNC + 18083 + + + IUPHAR + 510 + + + OMIM + 605427 + + + Reactome + Q9HBA0 + + + SwissProt + Q9HBA0 + + + ClinVar + TRPV4 + + + + + 12q24.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3021 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3021 + RAPADILINO syndrome + + Malformation syndrome + + + Disorder + + + + 12952869[PMID]_18716613[PMID] + + RecQ like helicase 4 + RECQL4 + + RecQ4 + + + gene with protein product + + + + HGNC + 9949 + + + OMIM + 603780 + + + SwissProt + O94761 + + + ClinVar + RECQL4 + + + Ensembl + ENSG00000160957 + + + Genatlas + RECQL4 + + + + + 8q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 263494 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263494 + DPM3-CDG + + Disease + + + Disorder + + + + 20301507[PMID] + + dolichyl-phosphate mannosyltransferase subunit 3, regulatory + DPM3 + + DPM synthase complex subunit + MGC125904 + MGC125905 + MGC34275 + + + gene with protein product + + + + ClinVar + DPM3 + + + Ensembl + ENSG00000179085 + + + Genatlas + DPM3 + + + HGNC + 3007 + + + OMIM + 605951 + + + Reactome + Q9P2X0 + + + SwissProt + Q9P2X0 + + + + + 1q22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 263487 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263487 + COG5-CDG + + Disease + + + Disorder + + + + 20301507[PMID] + + component of oligomeric golgi complex 5 + COG5 + + GTC90 + + + gene with protein product + + + + ClinVar + COG5 + + + Ensembl + ENSG00000164597 + + + Genatlas + COG5 + + + HGNC + 14857 + + + OMIM + 606821 + + + Reactome + Q9UP83 + + + SwissProt + Q9UP83 + + + + + 7q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 263458 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263458 + Hyperinsulinism due to INSR deficiency + + Disease + + + Disorder + + + + 15161766[PMID] + + insulin receptor + INSR + + CD220 + + + gene with 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syndrome + + + Disorder + + + + 25019372[PMID] + + FAM20C golgi associated secretory pathway kinase + FAM20C + + DKFZp547D065 + DMP4 + IMAGE:4942737 + dentin matrix protein 4 + G-CK + golgi casein kinase + + + gene with protein product + + + + Ensembl + ENSG00000177706 + + + Genatlas + FAM20C + + + HGNC + 22140 + + + OMIM + 611061 + + + SwissProt + Q8IXL6 + + + ClinVar + FAM20C + + + Reactome + Q8IXL6 + + + + + 7p22.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 3019 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3019 + Ramon syndrome + + Malformation syndrome + + + Disorder + + + + 29095483[PMID] + + engulfment and cell motility 2 + ELMO2 + + CED-12 + CED12 + ELMO-2 + FLJ11656 + KIAA1834 + + + gene with protein product + + + + Reactome + Q96JJ3 + + + Ensembl + ENSG00000062598 + + + HGNC + 17233 + + + OMIM + 606421 + + + Genatlas + ELMO2 + + + SwissProt + Q96JJ3 + + + ClinVar + ELMO2 + + + + + 20q13.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 263463 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263463 + CHST3-related skeletal dysplasia + + Disease + + + Disorder + + + + 20830804[PMID]_21882400[PMID] + + carbohydrate sulfotransferase 3 + CHST3 + + C6ST + C6ST1 + chondroitin 6 sulfotransferase 1 + + + gene with protein product + + + + Ensembl + ENSG00000122863 + + + Genatlas + CHST3 + + + HGNC + 1971 + + + OMIM + 603799 + + + Reactome + Q7LGC8 + + + SwissProt + Q7LGC8 + + + ClinVar + CHST3 + + + + + 10q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 263410 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263410 + Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome + + Disease + + + Disorder + + + + 21176162[PMID] + + solute carrier family 19 member 3 + SLC19A3 + + THTR2 + thiamine transporter 2 + hTHTR2 + thTr-2 + + + gene with protein product + + 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related protein 4 + SFRP4 + + FRZB-2 + FRP-4 + frpHE + FRPHE + + + gene with protein product + + + + HGNC + 10778 + + + OMIM + 606570 + + + Genatlas + SFRP4 + + + SwissProt + Q6FHJ7 + + + Ensembl + ENSG00000106483 + + + ClinVar + SFRP4 + + + + + 7p14.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 263347 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263347 + MRCS syndrome + + Disease + + + Disorder + + + + 15452077[PMID] + + bestrophin 1 + BEST1 + + BEST + BMD + Best disease + RP50 + + + gene with protein product + + + + ClinVar + BEST1 + + + Ensembl + ENSG00000167995 + + + Genatlas + BEST1 + + + HGNC + 12703 + + + OMIM + 607854 + + + Reactome + O76090 + + + SwissProt + O76090 + + + + + 11q12.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2990 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2990 + Autosomal recessive multiple pterygium syndrome + + Malformation syndrome + + + Disorder + + + + 22167768[PMID] + + cholinergic receptor nicotinic gamma subunit + CHRNG + + acetylcholine receptor, nicotinic, gamma (muscle) + + + gene with protein product + + + + Ensembl + ENSG00000196811 + + + Genatlas + CHRNG + + + HGNC + 1967 + + + IUPHAR + 475 + + + OMIM + 100730 + + + Reactome + P07510 + + + SwissProt + P07510 + + + ClinVar + CHRNG + + + + + 2q37.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 29805041[PMID] + + myosin heavy chain 3 + MYH3 + + HEMHC + MYHC-EMB + MYHSE1 + SMHCE + muscle embryonic myosin heavy chain 3 + myosin, skeletal, heavy chain, embryonic 1 + + + gene with protein product + + + + ClinVar + MYH3 + + + Ensembl + ENSG00000109063 + + + Genatlas + MYH3 + + + HGNC + 7573 + + + OMIM + 160720 + + + Reactome + P11055 + + + SwissProt + P11055 + + + + + 17p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 263297 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263297 + Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency + + Disease + + + Disorder + + + + 20357282[PMID] + + glycogenin 1 + GYG1 + + glycogenin glucosyltransferase + + + gene with protein product + + + + ClinVar + GYG1 + + + Ensembl + ENSG00000163754 + + + Genatlas + GYG1 + + + HGNC + 4699 + + + OMIM + 603942 + + + Reactome + P46976 + + + SwissProt + P46976 + + + + + 3q24 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3138 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3138 + Ulnar-mammary syndrome + + Malformation syndrome + + + Disorder + + + + 19938096[PMID]_10330342[PMID]_12668170[PMID] + + T-box transcription factor 3 + TBX3 + + TBX3-ISO + XHL + + + gene with protein product + + + + Ensembl + ENSG00000135111 + + + Genatlas + TBX3 + + + HGNC + 11602 + + + OMIM + 601621 + + + SwissProt + O15119 + + + ClinVar + TBX3 + + + Reactome + O15119 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Ensembl + ENSG00000165458 + + + Genatlas + INPPL1 + + + HGNC + 6080 + + + IUPHAR + 1459 + + + ClinVar + INPPL1 + + + OMIM + 600829 + + + Reactome + O15357 + + + SwissProt + O15357 + + + + + 11q13.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 798 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=798 + Schinzel-Giedion syndrome + + Malformation syndrome + + + Disorder + + + + 20436468[PMID]_21371013[PMID] + + SET binding protein 1 + SETBP1 + + KIAA0437 + SEB + + + gene with protein product + + + + ClinVar + SETBP1 + + + Ensembl + ENSG00000152217 + + + Genatlas + SETBP1 + + + HGNC + 15573 + + + OMIM + 611060 + + + SwissProt + Q9Y6X0 + + + + + 18q12.3 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 3115 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3115 + Roussy-Lévy syndrome + + Disease + + + Disorder + + + + 9543325[PMID]_18592125[PMID] + + peripheral myelin protein 22 + PMP22 + + GAS3 + HNPP + Sp110 + HMSNIA + + + gene with protein product + + + + Reactome + Q01453 + + + ClinVar + PMP22 + + + Ensembl + ENSG00000109099 + + + Genatlas + PMP22 + + + HGNC + 9118 + + + OMIM + 601097 + + + SwissProt + Q01453 + + + + + 17p12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 10553995[PMID] + + myelin protein zero + MPZ + + CMT2I + CMT2J + HMSNIB + P0 + + + gene with protein product + + + + ClinVar + MPZ + + + Ensembl + ENSG00000158887 + + + Genatlas + MPZ + + + HGNC + 7225 + + + OMIM + 159440 + + + SwissProt + P25189 + + + + + 1q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3102 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3102 + Richieri Costa-Pereira syndrome + + Malformation syndrome + + + Disorder + + + + 24360804[PMID] + + eukaryotic translation initiation factor 4A3 + EIF4A3 + + Fal1 + EIF4AIII + KIAA0111 + + + gene with protein product + + + + ClinVar + EIF4A3 + + + Ensembl + ENSG00000141543 + + + Genatlas + EIF4A3 + + + HGNC + 18683 + + + OMIM + 608546 + + + Reactome + P38919 + + + SwissProt + P38919 + + + + + 17q25.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 3107 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3107 + Autosomal dominant Robinow syndrome + + Clinical subtype + + + Subtype of disorder + + + + 26924530[PMID] + + dishevelled segment polarity protein 3 + DVL3 + + KIAA0208 + + + gene with protein product + + + + HGNC + 3087 + + + OMIM + 601368 + + + Genatlas + DVL3 + + + SwissProt + Q92997 + + + Reactome + Q92997 + + + Ensembl + ENSG00000161202 + + + ClinVar + DVL3 + + + + + 3q27.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 19918918[PMID] + + Wnt family member 5A + WNT5A + + WNT-5A protein + hWNT5A + + + gene with protein product + + + + Ensembl + ENSG00000114251 + + + Genatlas + WNT5A + + + HGNC + 12784 + + + OMIM + 164975 + + + Reactome + P41221 + + + SwissProt + P41221 + + + ClinVar + WNT5A + + + + + 3p14.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 25817016[PMID] + + dishevelled segment polarity protein 1 + DVL1 + + + + gene with protein product + + + + Ensembl + ENSG00000107404 + + + Genatlas + DVL1 + + + HGNC + 3084 + + + OMIM + 601365 + + + Reactome + O14640 + + + SwissProt + O14640 + + + ClinVar + DVL1 + + + + + 1p36.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 29276006[PMID] + + frizzled class receptor 2 + FZD2 + + + + gene with protein product + + + + IUPHAR + 230 + + + OMIM + 600667 + + + Reactome + Q14332 + + + SwissProt + Q14332 + + + Ensembl + ENSG00000180340 + + + Genatlas + FZD2 + + + HGNC + 4040 + + + ClinVar + FZD2 + + + + + 17q21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3086 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3086 + Autosomal dominant vitreoretinochoroidopathy + + Disease + + + Disorder + + + + 18611979[PMID]_21072067[PMID] + + bestrophin 1 + BEST1 + + BEST + BMD + Best disease + RP50 + + + gene with protein product + + + + ClinVar + BEST1 + + + Ensembl + ENSG00000167995 + + + Genatlas + BEST1 + + + HGNC + 12703 + + + OMIM + 607854 + + + Reactome + O76090 + + + SwissProt + O76090 + + + + + 11q12.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3088 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3088 + Revesz syndrome + + Malformation syndrome + + + Disorder + + + + 18252230[PMID]_21477109[PMID] + + TERF1 interacting nuclear factor 2 + TINF2 + + TIN2 + + + gene with protein product + + + + Ensembl + ENSG00000092330 + + + Genatlas + TINF2 + + + HGNC + 11824 + + + OMIM + 604319 + + + Reactome + Q9BSI4 + + + SwissProt + Q9BSI4 + + + ClinVar + TINF2 + + + + + 14q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3097 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3097 + Meacham syndrome + + Malformation syndrome + + + Disorder + + + + 17853480[PMID]_21959952[PMID] + + WT1 transcription factor + WT1 + + AWT1 + NPHS4 + WAGR + WIT-2 + WT-1 + + + gene with protein product + + + + ClinVar + WT1 + + + Ensembl + ENSG00000184937 + + + Genatlas + WT1 + + + HGNC + 12796 + + + OMIM + 607102 + + + SwissProt + P19544 + + + Reactome + P19544 + + + + + 11p13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3078 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3078 + Severe X-linked intellectual disability, Gustavson type + + Malformation syndrome + + + Disorder + + + + 37277488[PMID] + + RNA binding motif protein X-linked + RBMX + + HNRNPG + RNMX + heterogeneous nuclear ribonucleoprotein G + hnRNP-G + + + gene with protein product + + + + Ensembl + ENSG00000147274 + + + SwissProt + P38159 + + + OMIM + 300199 + + + HGNC + 9910 + + + + + Xq26.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3077 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3077 + X-linked intellectual disability-psychosis-macroorchidism syndrome + + Malformation syndrome + + + Disorder + + + + 11885030[PMID] + + methyl-CpG binding protein 2 + MECP2 + + + + gene with protein product + + + + HGNC + 6990 + + + OMIM + 300005 + + + SwissProt + P51608 + + + Ensembl + ENSG00000169057 + + + Genatlas + MECP2 + + + ClinVar + MECP2 + + + Reactome + P51608 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3063 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3063 + X-linked intellectual disability, Snyder type + + Disease + + + Disorder + + + + 23805436[PMID] + + spermine synthase + SMS + + MRSR + SPMSY + SpS + + + gene with protein product + + + + Ensembl + ENSG00000102172 + + + Genatlas + SMS + + + HGNC + 11123 + + + OMIM + 300105 + + + Reactome + P52788 + + + SwissProt + P52788 + + + ClinVar + SMS + + + + + Xp22.11 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 2886 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2886 + TARP syndrome + + Malformation syndrome + + + Disorder + + + + 21910224[PMID] + + RNA binding motif protein 10 + RBM10 + + GPATCH9 + KIAA0122 + ZRANB5 + G-patch domain containing 9 + DXS8237E + GPATC9 + S1-1 + zinc finger RANBP2-type containing 5 + + + gene with protein product + + + + Ensembl + ENSG00000182872 + + + Genatlas + RBM10 + + + HGNC + 9896 + + + OMIM + 300080 + + + SwissProt + P98175 + + + ClinVar + RBM10 + + + Reactome + P98175 + + + + + Xp11.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2884 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2884 + Piebaldism + + Disease + + + Disorder + + + + 12955764[PMID]_24443330[PMID] + + snail family transcriptional repressor 2 + SNAI2 + + SLUGH1 + SNAIL2 + SLUGH + + 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proto-oncogene Wnt7a protein + Wnt-7a + + + gene with protein product + + + + ClinVar + WNT7A + + + Ensembl + ENSG00000154764 + + + Genatlas + WNT7A + + + HGNC + 12786 + + + OMIM + 601570 + + + Reactome + O00755 + + + SwissProt + O00755 + + + + + 3p25.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 268882 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268882 + Arnold-Chiari malformation type I + + Morphological anomaly + + + Disorder + + + + 28513615[PMID] + + dickkopf Wnt signaling pathway inhibitor 1 + DKK1 + + DKK-1 + SK + + + gene with protein product + + + + ClinVar + DKK1 + + + Ensembl + ENSG00000107984 + + + Genatlas + DKK1 + + + HGNC + 2891 + + + OMIM + 605189 + + + Reactome + O94907 + + + SwissProt + O94907 + + + + + 10q21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 268823 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268823 + Occipital encephalocele + + Clinical subtype + + + Subtype of disorder + + + + 22610794[PMID] + + dishevelled binding antagonist of beta catenin 1 + DACT1 + + DAPPER + DAPPER1 + FRODO + HDPR1 + THYEX3 + + + gene with protein product + + + + Ensembl + ENSG00000165617 + + + Genatlas + DACT1 + + + HGNC + 17748 + + + OMIM + 607861 + + + Reactome + Q9NYF0 + + + SwissProt + Q9NYF0 + + + ClinVar + DACT1 + + + + + 14q23.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2874 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2874 + Phakomatosis pigmentokeratotica + + Malformation syndrome + + + Disorder + + + + 23337891[PMID] + + HRas proto-oncogene, GTPase + HRAS + + + + gene with protein product + + + + HGNC + 5173 + + + OMIM + 190020 + + + Reactome + P01112 + + + SwissProt + P01112 + + + Ensembl + ENSG00000174775 + + + Genatlas + HRAS + + + ClinVar + HRAS + + + IUPHAR + 2822 + + + + + 11p15.5 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 2848 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2848 + Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome + + Disease + + + Disorder + + + + 10545950[PMID] + + proteoglycan 4 + PRG4 + + bG174L6.2 (MSF: megakaryocyte stimulating factor ) + FLJ32635 + HAPO + JCAP + Jacobs camptodactyly-arthropathy-pericarditis syndrome + MSF + SZP + articular superficial zone protein + bG174L6.2 + camptodactyly, arthropathy, coxa vara, pericarditis syndrome + lubricin + megakaryocyte stimulating factor + + + gene with protein product + + + + ClinVar + PRG4 + + + Ensembl + ENSG00000116690 + + + Genatlas + PRG4 + + + HGNC + 9364 + + + OMIM + 604283 + + + SwissProt + Q92954 + + + + + 1q31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2854 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2854 + Fuhrmann syndrome + + Malformation syndrome + + + Disorder + + + + 23922166[PMID]_23266637[PMID] + + Wnt family member 7A + WNT7A + + proto-oncogene Wnt7a protein + Wnt-7a + + + gene with protein product + + + + ClinVar + WNT7A + + + Ensembl + ENSG00000154764 + + + Genatlas + WNT7A + + + HGNC + 12786 + + + OMIM + 601570 + + + Reactome + O00755 + + + SwissProt + O00755 + + + + + 3p25.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 708 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708 + Peters anomaly + + Morphological anomaly + + + Disorder + + + + 9620769[PMID]_11170889[PMID]_12614756[PMID]_18498376[PMID] + + forkhead box C1 + FOXC1 + + ARA + FREAC3 + IGDA + IHG1 + + + gene with protein product + + + + OMIM + 601090 + + + SwissProt + Q12948 + + + Ensembl + ENSG00000054598 + + + Genatlas + FOXC1 + + + HGNC + 3800 + + + ClinVar + FOXC1 + + + Reactome + Q12948 + + + + + 6p25.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 11403040[PMID]_15621878[PMID]_16735991[PMID] + + cytochrome P450 family 1 subfamily B member 1 + CYP1B1 + + CP1B + + + gene with protein product + + + + ClinVar + CYP1B1 + + + IUPHAR + 1320 + + + Ensembl + ENSG00000138061 + + + Genatlas + CYP1B1 + + + HGNC + 2597 + + + OMIM + 601771 + + + Reactome + Q16678 + + + SwissProt + Q16678 + + + + + 2p22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 10051017[PMID] + + paired like homeodomain 2 + PITX2 + + ARP1 + Brx1 + IGDS + Otlx2 + RS + + + gene with protein product + + + + Ensembl + ENSG00000164093 + + + Genatlas + PITX2 + + + HGNC + 9005 + + + OMIM + 601542 + + + SwissProt + Q99697 + + + ClinVar + PITX2 + + + Reactome + Q99697 + + + + + 4q25 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 8162071[PMID]_10441571[PMID]_15090434[PMID] + + paired box 6 + PAX6 + + AN + D11S812E + WAGR + aniridia, keratitis + Aniridia 1 + Aniridia 2 + + + gene with protein product + + + + Ensembl + ENSG00000007372 + + + Genatlas + PAX6 + + + HGNC + 8620 + + + OMIM + 607108 + + + Reactome + P26367 + + + SwissProt + P26367 + + + ClinVar + PAX6 + + + + + 11p13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 27218149[PMID] + + forkhead box E3 + FOXE3 + + FREAC8 + + + gene with protein product + + + + Ensembl + ENSG00000186790 + + + Genatlas + FOXE3 + + + HGNC + 3808 + + + OMIM + 601094 + + + SwissProt + Q13461 + + + ClinVar + FOXE3 + + + + + 1p33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2850 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2850 + Alopecia-intellectual disability syndrome + + Disease + + + Disorder + + + + 26695873[PMID] + + integrin subunit beta 6 + ITGB6 + + + + gene with protein product + + + + IUPHAR + 2460 + + + ClinVar + ITGB6 + + + Ensembl + ENSG00000115221 + + + Genatlas + ITGB6 + + + HGNC + 6161 + + + OMIM + 147558 + + + Reactome + P18564 + + + SwissProt + P18564 + + + + + 2q24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 30723320[PMID] + + lanosterol synthase + LSS + + OSC + Oxidosqualene-lanosterol cyclase + + + gene with protein product + + + + Ensembl + ENSG00000160285 + + + Genatlas + LSS + + + HGNC + 6708 + + + IUPHAR + 2434 + + + OMIM + 600909 + + + Reactome + P48449 + + + SwissProt + P48449 + + + ClinVar + LSS + + + + + 21q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 28054173[PMID] + + alpha 2-HS glycoprotein + AHSG + + A2HS + FETUA + fetuin A + HSGA + + + gene with protein product + + + + ClinVar + AHSG + + + HGNC + 349 + + + Ensembl + ENSG00000145192 + + + OMIM + 138680 + + + SwissProt + P02765 + + + Genatlas + AHSG + + + Reactome + R-HSA-8848910 + + + + + 3q27.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 268114 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268114 + RAS-associated autoimmune leukoproliferative disease + + Disease + + + Disorder + + + + 21079152[PMID] + + KRAS proto-oncogene, GTPase + KRAS + + KRAS1 + K-Ras4B + + + gene with protein product + + + + IUPHAR + 2824 + + + ClinVar + KRAS + + + Ensembl + ENSG00000133703 + + + Genatlas + KRAS + + + HGNC + 6407 + + + OMIM + 190070 + + + Reactome + P01116 + + + SwissProt + P01116 + + + + + 12p12.1 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 17517660[PMID]_21079152[PMID] + + NRAS proto-oncogene, GTPase + NRAS + + N-ras + + + gene with protein product + + + + HGNC + 7989 + + + OMIM + 164790 + + + Reactome + P01111 + + + SwissProt + P01111 + + + Ensembl + ENSG00000213281 + + + Genatlas + NRAS + + + ClinVar + NRAS + + + IUPHAR + 2823 + + + + + 1p13.2 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 268129 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268129 + Spheroid body myopathy + + Disease + + + Disorder + + + + 16380616[PMID] + + myotilin + MYOT + + + + gene with protein product + + + + Reactome + Q9UBF9 + + + Ensembl + ENSG00000120729 + + + Genatlas + MYOT + + 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specificity tyrosine phosphorylation regulated kinase 1A + DYRK1A + + + + gene with protein product + + + + ClinVar + DYRK1A + + + IUPHAR + 2009 + + + OMIM + 600855 + + + Reactome + Q13627 + + + SwissProt + Q13627 + + + Ensembl + ENSG00000157540 + + + Genatlas + DYRK1A + + + HGNC + 3091 + + + + + 21q22.13 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 2836 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2836 + PEHO syndrome + + Disease + + + Disorder + + + + 28335020[PMID] + + zinc finger HIT-type containing 3 + ZNHIT3 + + Hit1 + + + gene with protein product + + + + HGNC + 12309 + + + Ensembl + ENSG00000273611 + + + OMIM + 604500 + + + SwissProt + Q15649 + + + Genatlas + ZNHIT3 + + + ClinVar + ZNHIT3 + + + + + 17q12 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 268162 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268162 + Intermediate maple syrup urine disease + + Clinical subtype + + + Subtype of disorder + + + + 20301495[PMID] + + branched chain keto acid dehydrogenase E1 subunit alpha + BCKDHA + + MSU + maple syrup urine disease + 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial + + + gene with protein product + + + + ClinVar + BCKDHA + + + Ensembl + ENSG00000248098 + + + Genatlas + BCKDHA + + + HGNC + 986 + + + OMIM + 608348 + + + Reactome + P12694 + + + SwissProt + P12694 + + + + + 19q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301495[PMID] + + branched chain keto acid dehydrogenase E1 subunit beta + BCKDHB + + 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial + OVD1B + maple syrup urine disease + + + gene with protein product + + + + ClinVar + BCKDHB + + + Ensembl + ENSG00000083123 + + + Genatlas + BCKDHB + + + HGNC + 987 + + + OMIM + 248611 + + + Reactome + P21953 + + + SwissProt + P21953 + + + + + 6q14.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 20301495[PMID] + + dihydrolipoamide branched chain transacylase E2 + DBT + + dihydrolipoyllysine-residue (2-methylpropanoyl)transferase + lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial + branched chain 2-oxo-acid dehydrogenase complex component E2 + BCKDH-E2 + BCKAD-E2 + BCOADC-E2 + + + gene with protein product + + + + SwissProt + P11182 + + + Ensembl + ENSG00000137992 + + + Genatlas + DBT + + + HGNC + 2698 + + + OMIM + 248610 + + + Reactome + P11182 + + + ClinVar + DBT + + + + + 1p21.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 23086801[PMID] + + protein phosphatase, Mg2+/Mn2+ dependent 1K + PPM1K + + branched-chain a-ketoacid dehydrogenase phosphatase + BDP + DKFZp761G058 + PP2C-type mitochondrial phosphoprotein phosphatase + PP2Ckappa + PP2Cm + hPTMP + branched-chain α-ketoacid dehydrogenase phosphatase + protein phosphatase 2C kappa + branched-chain alpha-ketoacid dehydrogenase phosphatase + + + gene with protein product + + + + Reactome + Q8N3J5 + + + SwissProt + Q8N3J5 + + + Ensembl + ENSG00000163644 + + + Genatlas + PPM1K + + + HGNC + 25415 + + + OMIM + 611065 + + + ClinVar + PPM1K + + + + + 4q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 268145 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268145 + Classic maple syrup urine disease + + Clinical subtype + + + Subtype of disorder + + + + 20301495[PMID] + + branched chain keto acid dehydrogenase E1 subunit alpha + BCKDHA + + MSU + maple syrup urine disease + 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial + + + gene with protein product + + + + ClinVar + BCKDHA + + + Ensembl + ENSG00000248098 + + + Genatlas + BCKDHA + + + HGNC + 986 + + + OMIM + 608348 + + + Reactome + P12694 + + + SwissProt + P12694 + + + + + 19q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301495[PMID] + + branched chain keto acid dehydrogenase E1 subunit beta + BCKDHB + + 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial + OVD1B + maple syrup urine disease + + + gene with protein product + + + + ClinVar + BCKDHB + + + Ensembl + ENSG00000083123 + + + Genatlas + BCKDHB + + + HGNC + 987 + + + OMIM + 248611 + + + Reactome + P21953 + + + SwissProt + P21953 + + + + + 6q14.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 20301495[PMID] + + dihydrolipoamide branched chain transacylase E2 + DBT + + dihydrolipoyllysine-residue (2-methylpropanoyl)transferase + lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial + branched chain 2-oxo-acid dehydrogenase complex component E2 + BCKDH-E2 + BCKAD-E2 + BCOADC-E2 + + + gene with protein product + + + + SwissProt + P11182 + + + Ensembl + ENSG00000137992 + + + Genatlas + DBT + + + HGNC + 2698 + + + OMIM + 248610 + + + Reactome + P11182 + + + ClinVar + DBT + + + + + 1p21.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 268184 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268184 + Thiamine-responsive maple syrup urine disease + + Clinical subtype + + + Subtype of disorder + + + + 20301495[PMID] + + dihydrolipoamide branched chain transacylase E2 + DBT + + dihydrolipoyllysine-residue (2-methylpropanoyl)transferase + lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial + branched chain 2-oxo-acid dehydrogenase complex component E2 + BCKDH-E2 + BCKAD-E2 + BCOADC-E2 + + + gene with protein product + + + + SwissProt + P11182 + + + Ensembl + ENSG00000137992 + + + Genatlas + DBT + + + HGNC + 2698 + + + OMIM + 248610 + + + Reactome + P11182 + + + ClinVar + DBT + + + + + 1p21.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 2833 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2833 + Stiff skin syndrome + + Disease + + + Disorder + + + + 20375004[PMID] + + fibrillin 1 + FBN1 + + MASS + Marfan syndrome + OCTD + SGS + asprosin + + + gene with protein product + + + + ClinVar + FBN1 + + + Ensembl + ENSG00000166147 + + + Genatlas + FBN1 + + + HGNC + 3603 + + + OMIM + 134797 + + + Reactome + P35555 + + + SwissProt + P35555 + + + + + 15q21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2834 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 + Wrinkly skin syndrome + + Clinical subtype + + + Subtype of disorder + + + + 18157129[PMID] + + ATPase H+ transporting V0 subunit a2 + ATP6V0A2 + + ATP6N1D + ATP6a2 + J6B7 + Stv1 + TJ6 + TJ6M + TJ6s + Vph1 + a2 + V-ATPase subunit a2 + V-type proton ATPase 116 kDa subunit a2 + regeneration and tolerance factor + a2V + RTF + + + gene with protein product + + + + ClinVar + ATP6V0A2 + + + Reactome + Q9Y487 + + + SwissProt + Q9Y487 + + + Ensembl + ENSG00000185344 + + + Genatlas + ATP6V0A2 + + + HGNC + 18481 + + + OMIM + 611716 + + + IUPHAR + 824 + + + + + 12q24.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 268173 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268173 + Intermittent maple syrup urine disease + + Clinical subtype + + + Subtype of disorder + + + + 20301495[PMID] + + branched chain keto acid dehydrogenase E1 subunit alpha + BCKDHA + + MSU + maple syrup urine disease + 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial + + + gene with protein product + + + + ClinVar + BCKDHA + + + Ensembl + ENSG00000248098 + + + Genatlas + BCKDHA + + + HGNC + 986 + + + OMIM + 608348 + + + Reactome + P12694 + + + SwissProt + P12694 + + + + + 19q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301495[PMID] + + branched chain keto acid dehydrogenase E1 subunit beta + BCKDHB + + 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial + OVD1B + maple syrup urine disease + + + gene with protein product + + + + ClinVar + BCKDHB + + + Ensembl + ENSG00000083123 + + + Genatlas + BCKDHB + + + HGNC + 987 + + + OMIM + 248611 + + + Reactome + P21953 + + + SwissProt + P21953 + + + + + 6q14.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 20301495[PMID] + + dihydrolipoamide branched chain transacylase E2 + DBT + + dihydrolipoyllysine-residue (2-methylpropanoyl)transferase + lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial + branched chain 2-oxo-acid dehydrogenase complex component E2 + BCKDH-E2 + BCKAD-E2 + BCOADC-E2 + + + gene with protein product + + + + SwissProt + P11182 + + + Ensembl + ENSG00000137992 + + + Genatlas + DBT + + + HGNC + 2698 + + + OMIM + 248610 + + + Reactome + P11182 + + + ClinVar + DBT + + + + + 1p21.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 2969 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2969 + Proteus-like syndrome + + Clinical subtype + + + Subtype of disorder + + + + 10749983[PMID]_20301661[PMID] + + phosphatase and tensin homolog + PTEN + + MMAC1 + PTEN1 + TEP1 + mutated in multiple advanced cancers 1 + Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN + + + gene with protein product + + + + IUPHAR + 2497 + + + ClinVar + PTEN + + + HGNC + 9588 + + + OMIM + 601728 + + + Reactome + P60484 + + + SwissProt + P60484 + + + Ensembl + ENSG00000171862 + + + Genatlas + PTEN + + + + + 10q23.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 750 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=750 + Pseudoachondroplasia + + Disease + + + Disorder + + + + 20301660[PMID] + + cartilage oligomeric matrix protein + COMP + + MED + THBS5 + thrombospondin-5 + 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ClinVar + GREB1L + + + Ensembl + ENSG00000141449 + + + Genatlas + GREB1L + + + OMIM + 617782 + + + + + 18q11.1-q11.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 18252215[PMID] + + ret proto-oncogene + RET + + CDHF12 + CDHR16 + PTC + RET receptor tyrosine kinase + RET51 + cadherin-related family member 16 + rearranged during transfection + + + gene with protein product + + + + ClinVar + RET + + + Ensembl + ENSG00000165731 + + + Genatlas + RET + + + HGNC + 9967 + + + IUPHAR + 2185 + + + OMIM + 164761 + + + SwissProt + P07949 + + + Reactome + P07949 + + + + + 10q11.21 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 24439109[PMID] + + integrin subunit alpha 8 + ITGA8 + + + + gene with protein product + + + + ClinVar + ITGA8 + + + Genatlas + ITGA8 + + + HGNC + 6144 + + + OMIM + 604063 + + + Reactome + P53708 + + + SwissProt + P53708 + + + IUPHAR + 2447 + + + Ensembl + ENSG00000077943 + + + + 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ZMPSTE24 + + CAAX prenyl protease 1 homolog + FACE-1 + HGPS + Hutchinson-Gilford progeria syndrome + PRO1 + STE24 + Ste24p + + + gene with protein product + + + + ClinVar + ZMPSTE24 + + + Ensembl + ENSG00000084073 + + + Genatlas + ZMPSTE24 + + + HGNC + 12877 + + + OMIM + 606480 + + + SwissProt + O75844 + + + Reactome + O75844 + + + + + 1p34.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301300[PMID] + + lamin A/C + LMNA + + HGPS + MADA + mandibuloacral dysplasia type A + progerin + + + gene with protein product + + + + ClinVar + LMNA + + + Ensembl + ENSG00000160789 + + + Genatlas + LMNA + + + HGNC + 6636 + + + OMIM + 150330 + + + Reactome + P02545 + + + SwissProt + P02545 + + + + + 1q22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2957 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2957 + Guttmacher syndrome + + Malformation syndrome + + + Disorder + + + + 11968094[PMID] + + homeobox A13 + HOXA13 + + 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protein 19 + immunoglobulin transcription factor 2 + SL3-3 enhancer factor 2 + + + gene with protein product + + + + ClinVar + TCF4 + + + Ensembl + ENSG00000196628 + + + Genatlas + TCF4 + + + HGNC + 11634 + + + OMIM + 602272 + + + Reactome + P15884 + + + SwissProt + P15884 + + + + + 18q21.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 2899 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2899 + Brachyolmia-amelogenesis imperfecta syndrome + + Malformation syndrome + + + Disorder + + + + 25669657[PMID] + + latent transforming growth factor beta binding protein 3 + LTBP3 + + + + gene with protein product + + + + ClinVar + LTBP3 + + + Ensembl + ENSG00000168056 + + + Genatlas + LTBP3 + + + HGNC + 6716 + + + OMIM + 602090 + + + Reactome + Q9NS15 + + + SwissProt + Q9NS15 + + + + + 11q13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 264580 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264580 + Glycogen storage disease due to liver phosphorylase kinase deficiency + + Disease + + + Disorder + + + + + + phosphorylase kinase regulatory subunit alpha 2 + PHKA2 + + + + gene with protein product + + + + Ensembl + ENSG00000044446 + + + Genatlas + PHKA2 + + + HGNC + 8926 + + + OMIM + 300798 + + + Reactome + P46019 + + + SwissProt + P46019 + + + ClinVar + PHKA2 + + + + + Xp22.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + phosphorylase kinase catalytic subunit gamma 2 + PHKG2 + + + + gene with protein product + + + + Ensembl + ENSG00000156873 + + + Genatlas + PHKG2 + + + HGNC + 8931 + + + IUPHAR + 2147 + + + OMIM + 172471 + + + Reactome + P15735 + + + SwissProt + P15735 + + + ClinVar + PHKG2 + + + + + 16p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2919 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919 + Orofaciodigital syndrome type 5 + + Malformation syndrome + + + Disorder + + + + 23972372[PMID] + + DEAD-box helicase 59 + DDX59 + + DKFZP564B1023 + ZNHIT5 + zinc finger HIT-type containing 5 + + + gene with protein product + + + + ClinVar + DDX59 + + + Ensembl + ENSG00000118197 + + + Genatlas + DDX59 + + + HGNC + 25360 + + + OMIM + 615464 + + + SwissProt + Q5T1V6 + + + + + 1q32.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 264675 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264675 + Hereditary pulmonary alveolar proteinosis + + Disease + + + Disorder + + + + 21075760[PMID]_21205713[PMID] + + colony stimulating factor 2 receptor subunit beta + CSF2RB + + betaGMR + beta-GM-CSF receptor + CD131 + IL5RB + beta common cytokine receptor + + + gene with protein product + + + + IUPHAR + 2306 + + + ClinVar + CSF2RB + + + Ensembl + ENSG00000100368 + + + Genatlas + CSF2RB + + + HGNC + 2436 + + + OMIM + 138981 + + + Reactome + P32927 + + + SwissProt + P32927 + + + + + 22q12.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 18955570[PMID] + + colony stimulating factor 2 receptor subunit alpha + CSF2RA + + alpha-GM-CSF receptor + CD116 + alphaGMR + + + gene with protein product + + + + IUPHAR + 1707 + + + ClinVar + CSF2RA + + + Ensembl + ENSG00000198223 + + + Genatlas + CSF2RA + + + HGNC + 2435 + + + OMIM + 306250 + + + Reactome + P15509 + + + SwissProt + P15509 + + + + + Xp22.32 and Yp11.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3377 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3377 + Trismus-pseudocamptodactyly syndrome + + Malformation syndrome + + + Disorder + + + + 17041932[PMID]_18049072[PMID] + + myosin heavy chain 8 + MYH8 + + MyHC-peri + MyHC-pn + + + gene with protein product + + + + ClinVar + MYH8 + + + Ensembl + ENSG00000133020 + + + Genatlas + MYH8 + + + HGNC + 7578 + + + OMIM + 160741 + + + Reactome + P13535 + + + SwissProt + P13535 + + + + + 17p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed 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protein product + + + + Reactome + Q9UK05 + + + Genatlas + GDF2 + + + HGNC + 4217 + + + OMIM + 605120 + + + SwissProt + Q9UK05 + + + Ensembl + ENSG00000263761 + + + ClinVar + GDF2 + + + + + 10q11.22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 30029678[PMID] + + SRY-box transcription factor 17 + SOX17 + + + + gene with protein product + + + + Genatlas + SOX17 + + + HGNC + 18122 + + + OMIM + 610928 + + + Reactome + Q9H6I2 + + + SwissProt + Q9H6I2 + + + Ensembl + ENSG00000164736 + + + ClinVar + SOX17 + + + + + 8q11.23 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 275786 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275786 + Drug- or toxin-induced pulmonary arterial hypertension + + Clinical group + + + Group of disorders + + + + 22523367[PMID] + + bone morphogenetic protein receptor type 2 + BMPR2 + + BMPR-II + BMPR3 + BRK-3 + T-ALK + + + gene with protein product + + + + Ensembl + ENSG00000204217 + + + Genatlas + BMPR2 + + + HGNC + 1078 + + + IUPHAR + 1794 + + + OMIM + 600799 + + + Reactome + Q13873 + + + SwissProt + Q13873 + + + ClinVar + BMPR2 + + + + + 2q33.1-q33.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 275798 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275798 + Pulmonary arterial hypertension associated with connective tissue disease + + Clinical group + + + Group of disorders + + + + + + major histocompatibility complex, class I, B + HLA-B + + + + gene with protein product + + + + ClinVar + HLA-B + + + Ensembl + ENSG00000234745 + + + Genatlas + HLA-B + + + HGNC + 4932 + + + OMIM + 142830 + + + SwissProt + P01889 + + + Reactome + P30486 + + + + + 6p21.33 + 1 + + + + + Major susceptibility factor in + + + Not yet assessed + + + + + + 3363 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3363 + Trichomegaly-retina pigmentary degeneration-dwarfism syndrome + + Malformation syndrome + + + Disorder + + + + 25480986[PMID] + + 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Disease-causing germline mutation(s) in + + + Assessed + + + + 21931569[PMID] + + FRAS1 related extracellular matrix 1 + FREM1 + + C9orf143 + C9orf145 + DKFZp686M16108 + FLJ25461 + TILRR + + + gene with protein product + + + + Ensembl + ENSG00000164946 + + + Genatlas + FREM1 + + + HGNC + 23399 + + + OMIM + 608944 + + + SwissProt + Q5H8C1 + + + ClinVar + FREM1 + + + + + 9p22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 276148 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276148 + Benign epithelial tumor of salivary glands + + Disease + + + Disorder + + + + 21394649[PMID]_23821214[PMID] + + PLAG1 zinc finger + PLAG1 + + ZNF912 + + + gene with protein product + + + + OMIM + 603026 + + + Genatlas + PLAG1 + + + SwissProt + Q6DJT9 + + + Ensembl + ENSG00000181690 + + + ClinVar + PLAG1 + + + HGNC + 9045 + + + + + 8q12.1 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 23821214[PMID] + + high mobility group AT-hook 2 + HMGA2 + 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21910217[PMID] + + FA complementation group B + FANCB + + FAAP95 + FAB + FLJ34064 + + + gene with protein product + + + + ClinVar + FANCB + + + Ensembl + ENSG00000181544 + + + Genatlas + FANCB + + + HGNC + 3583 + + + OMIM + 300515 + + + Reactome + Q8NB91 + + + SwissProt + Q8NB91 + + + + + Xp22.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 276152 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276152 + Multiple endocrine neoplasia type 4 + + Disease + + + Disorder + + + + 25416039[PMID] + + cyclin dependent kinase inhibitor 1B + CDKN1B + + KIP1 + P27KIP1 + + + gene with protein product + + + + ClinVar + CDKN1B + + + HGNC + 1785 + + + OMIM + 600778 + + + Reactome + P46527 + + + SwissProt + P46527 + + + Ensembl + ENSG00000111276 + + + Genatlas + CDKN1B + + + + + 12p13.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 275872 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275872 + Frontotemporal dementia with motor neuron disease + + Disease + + + Disorder + + + + 21145000[PMID] + + valosin containing protein + VCP + + CDC48 + p97 + IBMPFD + TERA + transitional endoplasmic reticulum ATPase + + + gene with protein product + + + + ClinVar + VCP + + + Ensembl + ENSG00000165280 + + + Genatlas + VCP + + + HGNC + 12666 + + + OMIM + 601023 + + + Reactome + P55072 + + + SwissProt + P55072 + + + + + 9p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + TAR DNA binding protein + TARDBP + + ALS10 + TDP-43 + + + gene with protein product + + + + ClinVar + TARDBP + + + Ensembl + ENSG00000120948 + + + Genatlas + TARDBP + + + HGNC + 11571 + + + OMIM + 605078 + + + SwissProt + Q13148 + + + Reactome + Q13148 + + + + + 1p36.22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23597030[PMID] + + FUS RNA binding protein + FUS + + FUS1 + HNRNPP2 + TLS + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3384 + Common arterial trunk + + Morphological anomaly + + + Disorder + + + + 15649947[PMID]_25195019[PMID] + + NK2 homeobox 6 + NKX2-6 + + CSX2 + NKX4-2 + tinman paralog (Drosophila) + tinman (Drosophila) homolog + + + gene with protein product + + + + ClinVar + NKX2-6 + + + Genatlas + NKX2-6 + + + HGNC + 32940 + + + OMIM + 611770 + + + SwissProt + A6NCS4 + + + Ensembl + ENSG00000180053 + + + + + 8p21.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 24254849[PMID] + + plexin D1 + PLXND1 + + KIAA0620 + + + gene with protein product + + + + IUPHAR + 3299 + + + ClinVar + PLXND1 + + + Ensembl + ENSG00000004399 + + + Genatlas + PLXND1 + + + HGNC + 9107 + + + OMIM + 604282 + + + Reactome + Q9Y4D7 + + + SwissProt + Q9Y4D7 + + + + + 3q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 275864 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275864 + Behavioral 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HGNC + 4601 + + + OMIM + 138945 + + + SwissProt + P28799 + + + + + 17q21.31 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 24042580[PMID] + + sequestosome 1 + SQSTM1 + + A170 + p60 + p62 + p62B + autophagy receptor p62 + + + gene with protein product + + + + IUPHAR + 3213 + + + Ensembl + ENSG00000161011 + + + Genatlas + SQSTM1 + + + HGNC + 11280 + + + OMIM + 601530 + + + Reactome + Q13501 + + + SwissProt + Q13501 + + + ClinVar + SQSTM1 + + + + + 5q35.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23597030[PMID]_23392204[PMID] + + C9orf72-SMCR8 complex subunit + C9ORF72 + + MGC23980 + DENNL72 + DENND9 + + + gene with protein product + + + + ClinVar + C9orf72 + + + Ensembl + ENSG00000147894 + + + Genatlas + C9orf72 + + + HGNC + 28337 + + + OMIM + 614260 + + + SwissProt + Q96LT7 + + + + + 9p21.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 3329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3329 + Tibial aplasia-ectrodactyly syndrome + + Malformation syndrome + + + Disorder + + + + + + basic helix-loop-helix family member a9 + BHLHA9 + + BHLHF42 + Fingerin + bHLHa9 + + + gene with protein product + + + + ClinVar + BHLHA9 + + + Ensembl + ENSG00000205899 + + + Genatlas + BHLHA9 + + + HGNC + 35126 + + + OMIM + 615416 + + + SwissProt + Q7RTU4 + + + + + 17p13.3 + 1 + + + + + Major susceptibility factor in + + + Not yet assessed + + + + + + 3322 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3322 + Hoyeraal-Hreidarsson syndrome + + Disease + + + Disorder + + + + 33734615[PMID] + + dyskerin pseudouridine synthase 1 + DKC1 + + Cbf5 + H/ACA ribonucleoprotein complex subunit 4 + NAP57 + NOLA4 + XAP101 + dyskerin + + + gene with protein product + + + + Ensembl + ENSG00000130826 + + + Genatlas + DKC1 + + + HGNC + 2890 + + + OMIM + 300126 + + + Reactome + O60832 + + + SwissProt + O60832 + + + ClinVar + DKC1 + 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DKFZP434C013 + KIAA1088 + NHL + RTEL + bK3184A7.3 + + + gene with protein product + + + + ClinVar + RTEL1 + + + Ensembl + ENSG00000258366 + + + Genatlas + RTEL1 + + + HGNC + 15888 + + + OMIM + 608833 + + + Reactome + Q9NZ71 + + + SwissProt + Q9NZ71 + + + + + 20q13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 25233904[PMID] + + ACD shelterin complex subunit and telomerase recruitment factor + ACD + + POT1 and TIN2 organizing protein + Pip1 + Ptop + TIN2 interacting protein 1 + Tint1 + Tpp1 + + + gene with protein product + + + + ClinVar + ACD + + + Ensembl + ENSG00000102977 + + + Genatlas + ACD + + + HGNC + 25070 + + + OMIM + 609377 + + + Reactome + Q96AP0 + + + SwissProt + Q96AP0 + + + + + 16q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 25893599[PMID] + + poly(A)-specific ribonuclease + PARN + + DAN + deadenylation nuclease + + + gene with protein product + + + + Ensembl + ENSG00000140694 + + + Genatlas + PARN + + 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Q6ZVD7 + + + ClinVar + STOX1 + + + + + 10q22.1 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 22437503[PMID] + + corin, serine peptidase + CORIN + + ATC2 + CRN + Lrp4 + PRSC + TMPRSS10 + + + gene with protein product + + + + ClinVar + CORIN + + + Ensembl + ENSG00000145244 + + + Genatlas + CORIN + + + HGNC + 19012 + + + OMIM + 605236 + + + Reactome + Q9Y5Q5 + + + SwissProt + Q9Y5Q5 + + + + + 4p12 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 275517 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275517 + Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency + + Disease + + + Disorder + + + + 21447005[PMID]_16446975[PMID]_20301287[PMID] + + caspase 8 + CASP8 + + Casp-8 + FLICE + MACH + MCH5 + + + gene with protein product + + + + Ensembl + ENSG00000064012 + + + Genatlas + CASP8 + + + HGNC + 1509 + + + IUPHAR + 1624 + + + OMIM + 601763 + + + Reactome + Q14790 + + + SwissProt + Q14790 + + + ClinVar + CASP8 + + + + + 2q33.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3352 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3352 + Tricho-dento-osseous syndrome + + Malformation syndrome + + + Disorder + + + + 18492670[PMID]_22969805[PMID] + + distal-less homeobox 3 + DLX3 + + + + gene with protein product + + + + Ensembl + ENSG00000064195 + + + Genatlas + DLX3 + + + HGNC + 2916 + + + OMIM + 600525 + + + SwissProt + O60479 + + + ClinVar + DLX3 + + + + + 17q21.33 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 3342 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3342 + Arterial tortuosity syndrome + + Malformation syndrome + + + Disorder + + + + 16550171[PMID]_17935213[PMID]_20547159[PMID] + + solute carrier family 2 member 10 + SLC2A10 + + GLUT10 + GLUT-10 + facilitative glucose transporter GLUT10 + + + gene with protein product + + + + HGNC + 13444 + + + OMIM + 606145 + + + Reactome + O95528 + + + SwissProt + O95528 + + + Ensembl + ENSG00000197496 + + + Genatlas + SLC2A10 + + + ClinVar + SLC2A10 + + + IUPHAR + 886 + + + + + 20q13.12 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 3339 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3339 + Oculoectodermal syndrome + + Malformation syndrome + + + Disorder + + + + 25808193[PMID] + + KRAS proto-oncogene, GTPase + KRAS + + KRAS1 + K-Ras4B + + + gene with protein product + + + + IUPHAR + 2824 + + + ClinVar + KRAS + + + Ensembl + ENSG00000133703 + + + Genatlas + KRAS + + + HGNC + 6407 + + + OMIM + 190070 + + + Reactome + P01116 + + + SwissProt + P01116 + + + + + 12p12.1 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 3338 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3338 + Toriello-Carey syndrome + + Malformation syndrome + + + Disorder + + + + 28371085[PMID]_26235985[PMID] + + 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+ + + + 1q32.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3459 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3459 + Wilson-Turner syndrome + + Malformation syndrome + + + Disorder + + + + 22889856[PMID] + + histone deacetylase 8 + HDAC8 + + RPD3 + KDAC8 + + + gene with protein product + + + + Ensembl + ENSG00000147099 + + + Genatlas + HDAC8 + + + HGNC + 13315 + + + IUPHAR + 2619 + + + OMIM + 300269 + + + Reactome + Q9BY41 + + + SwissProt + Q9BY41 + + + ClinVar + HDAC8 + + + + + Xq13.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 25644381[PMID] + + LAS1 like ribosome biogenesis factor + LAS1L + + FLJ12525 + Las1 + + + gene with protein product + + + + Ensembl + ENSG00000001497 + + + Genatlas + LAS1L + + + HGNC + 25726 + + + OMIM + 300964 + + + SwissProt + Q9Y4W2 + + + Reactome + Q9Y4W2 + + + ClinVar + LAS1L + + + + + Xq12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2995 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2995 + Baraitser-Winter cerebrofrontofacial syndrome + + Malformation syndrome + + + Disorder + + + + 22366783[PMID] + + actin beta + ACTB + + ß-actin + + + gene with protein product + + + + ClinVar + ACTB + + + Ensembl + ENSG00000075624 + + + Genatlas + ACTB + + + HGNC + 132 + + + OMIM + 102630 + + + Reactome + P60709 + + + SwissProt + P60709 + + + + + 7p22.1 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 22366783[PMID] + + actin gamma 1 + ACTG1 + + + + gene with protein product + + + + ClinVar + ACTG1 + + + Ensembl + ENSG00000184009 + + + Genatlas + ACTG1 + + + HGNC + 144 + + + OMIM + 102560 + + + Reactome + P63261 + + + SwissProt + P63261 + + + + + 17q25.3 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 3243 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3243 + Sweet syndrome + + Disease + + + Disorder + + + + 21406173[PMID] + + protein tyrosine phosphatase non-receptor type 6 + PTPN6 + + PTP-1C + SHP1 + SHP-1 + HCP + HCPH + + + gene with protein product + + + + HGNC + 9658 + + + Ensembl + ENSG00000111679 + + + OMIM + 176883 + + + SwissProt + P29350 + + + + + 12p13.31 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 28835462[PMID] + + MEFV innate immunity regulator, pyrin + MEFV + + FMF + TRIM20 + marenostrin + + + gene with protein product + + + + Ensembl + ENSG00000103313 + + + Genatlas + MEFV + + + HGNC + 6998 + + + OMIM + 608107 + + + Reactome + O15553 + + + SwissProt + O15553 + + + ClinVar + MEFV + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1827 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1827 + Acromelic frontonasal dysplasia + + Malformation syndrome + + + Disorder + + + + 25105228[PMID] + + zinc finger SWIM-type containing 6 + ZSWIM6 + + KIAA1577 + + + gene with protein product + + + + Ensembl + ENSG00000130449 + + + Genatlas + ZSWIM6 + + + HGNC + 29316 + + + OMIM + 615951 + + + SwissProt + Q9HCJ5 + + + ClinVar + ZSWIM6 + + + + + 5q12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 268973 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268973 + Isolated focal cortical dysplasia type Ia + + Histopathological subtype + + + Subtype of disorder + + + + 29679388[PMID] + + solute carrier family 35 member A2 + SLC35A2 + + UGAT + UGT + UGT1 + UGT2 + UGTL + UDP-Gal-Tr + UDP-galactose translocator + + + gene with protein product + + + + ClinVar + SLC35A2 + + + IUPHAR + 1139 + + + Ensembl + ENSG00000102100 + + + Genatlas + SLC35A2 + + + HGNC + 11022 + + + OMIM + 314375 + + + Reactome + P78381 + + + SwissProt + P78381 + + + + + Xp11.23 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 269008 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269008 + Isolated focal cortical dysplasia type IIb + + Histopathological subtype + + + Subtype of disorder + + + + 28215400[PMID] + + TSC complex subunit 2 + TSC2 + + LAM + PPP1R160 + protein phosphatase 1, regulatory subunit 160 + tuberin + + + gene with protein product + + + + OMIM + 191092 + + + Reactome + P49815 + + + SwissProt + P49815 + + + ClinVar + TSC2 + + + Ensembl + ENSG00000103197 + + + Genatlas + TSC2 + + + HGNC + 12363 + + + + + 16p13.3 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 25799227[PMID] + + mechanistic target of rapamycin kinase + MTOR + + FK506 binding protein 12-rapamycin associated protein 2 + FKBP-rapamycin associated protein + FKBP12-rapamycin complex-associated protein 1 + FLJ44809 + RAFT1 + RAPT1 + dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1) + mammalian target of rapamycin + rapamycin and FKBP12 target 1 + rapamycin associated protein FRAP2 + rapamycin target protein + + + gene with protein product + + + + Ensembl + ENSG00000198793 + + + Genatlas + MTOR + + + HGNC + 3942 + + + IUPHAR + 2109 + + + OMIM + 601231 + + + Reactome + P42345 + + + SwissProt + P42345 + + + ClinVar + MTOR + + + + + 1p36.22 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 28215400[PMID] + + TSC complex subunit 1 + TSC1 + + KIAA0243 + LAM + hamartin + + + gene with protein product + + + + ClinVar + TSC1 + + + Ensembl + ENSG00000165699 + + + Genatlas + TSC1 + + + HGNC + 12362 + + + OMIM + 605284 + + + Reactome + Q92574 + + + SwissProt + Q92574 + + + + + 9q34.13 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 269001 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269001 + Isolated focal cortical dysplasia type IIa + + Histopathological subtype + + + Subtype of disorder + + + + 28215400[PMID] + + TSC complex subunit 2 + TSC2 + + LAM + PPP1R160 + protein phosphatase 1, regulatory subunit 160 + tuberin + + + gene with protein product + + + + OMIM + 191092 + + + Reactome + P49815 + + + SwissProt + P49815 + + + ClinVar + TSC2 + + + Ensembl + ENSG00000103197 + + + Genatlas + TSC2 + + + HGNC + 12363 + + + + + 16p13.3 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 25799227[PMID] + + mechanistic target of rapamycin kinase + MTOR + + FK506 binding protein 12-rapamycin associated protein 2 + FKBP-rapamycin associated protein + FKBP12-rapamycin complex-associated protein 1 + FLJ44809 + RAFT1 + RAPT1 + dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1) + mammalian target of rapamycin + rapamycin and FKBP12 target 1 + rapamycin associated protein FRAP2 + rapamycin target protein + + + gene with protein product + + + + Ensembl + ENSG00000198793 + + + Genatlas + MTOR + + + HGNC + 3942 + + + IUPHAR + 2109 + + + OMIM + 601231 + + + Reactome + P42345 + + + SwissProt + P42345 + + + ClinVar + MTOR + + + + + 1p36.22 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 2460 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2460 + Van den Ende-Gupta syndrome + + Malformation syndrome + + + Disorder + + + + 20887961[PMID]_22140376[PMID] + + scavenger receptor class F member 2 + SCARF2 + + HUMZD58C02 + SREC-II + SREC2 + + + gene with protein product + + + + Ensembl + ENSG00000244486 + + + Genatlas + SCARF2 + + + HGNC + 19869 + + + OMIM + 613619 + + + SwissProt + Q96GP6 + + + ClinVar + SCARF2 + + + + + 22q11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3416 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3416 + Hyperostosis corticalis generalisata + + Malformation syndrome + + + Disorder + + + + 12579474[PMID] + + LDL receptor related protein 5 + LRP5 + + BMND1 + EVR4 + HBM + LR3 + OPS + OPTA1 + VBCH2 + + + gene with protein product + + + + ClinVar + LRP5 + + + Ensembl + ENSG00000162337 + + + Genatlas + LRP5 + + + HGNC + 6697 + + + OMIM + 603506 + + + Reactome + O75197 + + + SwissProt + O75197 + + + + + 11q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 11836356[PMID]_20301406[PMID] + + sclerostin + SOST + + DAND6 + VBCH + + + gene with protein product + + + + Ensembl + ENSG00000167941 + + + Genatlas + SOST + + + HGNC + 13771 + + + OMIM + 605740 + + + Reactome + Q9BQB4 + + + SwissProt + Q9BQB4 + + + ClinVar + SOST + + + + + 17q21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3453 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453 + Autoimmune polyendocrinopathy type 1 + + Disease + + + Disorder + + + + 22460196[PMID]_23342054[PMID] + + autoimmune regulator + AIRE + + APS1 + PGA1 + autoimmune polyendocrinopathy candidiasis ectodermal dystrophy + + + gene with protein product + + + + Ensembl + ENSG00000160224 + + + Genatlas + AIRE + + + HGNC + 360 + + + OMIM + 607358 + + + SwissProt + O43918 + + + Reactome + O43918 + + + ClinVar + AIRE + + + + + 21q22.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 3449 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3449 + Weill-Marchesani syndrome + + Malformation syndrome + + + Disorder + + + + 19836009[PMID] + + ADAM metallopeptidase with thrombospondin type 1 motif 17 + ADAMTS17 + + FLJ16363 + FLJ32769 + + + gene with protein product + + + + IUPHAR + 1689 + + + Ensembl + ENSG00000140470 + + + Genatlas + ADAMTS17 + + + HGNC + 17109 + + + OMIM + 607511 + + + Reactome + Q8TE56 + + + SwissProt + Q8TE56 + + + ClinVar + ADAMTS17 + + + + + 15q26.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 20301293[PMID] + + ADAM metallopeptidase with thrombospondin type 1 motif 10 + ADAMTS10 + + ADAM-TS10 + + + gene with protein product + + + + ClinVar + ADAMTS10 + + + IUPHAR + 1683 + + + Ensembl + ENSG00000142303 + + + Genatlas + ADAMTS10 + + + HGNC + 13201 + + + OMIM + 608990 + + + Reactome + Q9H324 + + + SwissProt + Q9H324 + + + + + 19p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301293[PMID] + + fibrillin 1 + FBN1 + + MASS + Marfan syndrome + OCTD + SGS + asprosin + + + gene with protein product + + + + ClinVar + FBN1 + + + Ensembl + ENSG00000166147 + + + Genatlas + FBN1 + + + HGNC + 3603 + + + OMIM + 134797 + + + Reactome + P35555 + + + SwissProt + P35555 + + + + + 15q21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301293[PMID]_22539340[PMID] + + latent transforming growth factor beta binding protein 2 + LTBP2 + + + + gene with protein product + + + + ClinVar + LTBP2 + + + Ensembl + ENSG00000119681 + + + Genatlas + LTBP2 + + + HGNC + 6715 + + + OMIM + 602091 + + + Reactome + Q14767 + + + SwissProt + Q14767 + + + + + 14q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 269510 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269510 + Congenital non-communicating hydrocephalus + + Clinical subtype + + + Subtype of disorder + + + + 28556411[PMID] + + WD repeat domain 81 + WDR81 + + CAMRQ2 + FLJ33817 + PPP1R166 + SORF-2 + protein phosphatase 1, regulatory subunit 166 + + + gene with protein product + + + + Ensembl + ENSG00000167716 + + + Genatlas + WDR81 + + + HGNC + 26600 + + + OMIM + 614218 + + + SwissProt + Q562E7 + + + ClinVar + WDR81 + + + + + 17p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21031079[PMID]_23042809[PMID] + + coiled-coil and HOOK domain protein 88C + CCDC88C + + DAPLE + Dvl-associating protein with a high frequency of leucine residues + HkRP2 + SCA40 + spinocerebellar ataxia 40 + + + gene with protein product + + + + HGNC + 19967 + + + OMIM + 611204 + + + Reactome + Q9P219 + + + SwissProt + Q9P219 + + + Ensembl + ENSG00000015133 + + + Genatlas + CCDC88C + + + ClinVar + CCDC88C + + + + + 14q32.11-q32.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3454 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3454 + Wieacker-Wolff syndrome + + Malformation syndrome + + + Disorder + + + + 23623388[PMID] + + zinc finger C4H2-type containing + ZC4H2 + + HCA127 + + + gene with protein product + + + + ClinVar + ZC4H2 + + + Ensembl + ENSG00000126970 + + + Genatlas + ZC4H2 + + + HGNC + 24931 + + + OMIM + 300897 + + + SwissProt + Q9NQZ6 + + + + + Xq11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3455 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3455 + Wiedemann-Rautenstrauch syndrome + + Malformation syndrome + + + Disorder + + + + 30323018[PMID] + + RNA polymerase III subunit A + POLR3A + + RPC1 + RPC155 + hRPC155 + C160 + + + gene with protein product + + + + ClinVar + POLR3A + + + Ensembl + ENSG00000148606 + + + Genatlas + POLR3A + + + HGNC + 30074 + + + OMIM + 614258 + + + Reactome + O14802 + + + SwissProt + O14802 + + + + + 10q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 269505 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269505 + Congenital communicating hydrocephalus + + Clinical subtype + + + Subtype of disorder + + + + 28556411[PMID] + + WD repeat domain 81 + WDR81 + + CAMRQ2 + FLJ33817 + PPP1R166 + SORF-2 + protein phosphatase 1, regulatory subunit 166 + + + gene with protein product + + + + Ensembl + ENSG00000167716 + + + Genatlas + WDR81 + + + HGNC + 26600 + + + OMIM + 614218 + + + SwissProt + Q562E7 + + + ClinVar + WDR81 + + + + + 17p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 29983323[PMID] + + tripartite motif containing 71 + TRIM71 + + LIN-41 + LIN41 + + + gene with protein product + + + + OMIM + 618570 + + + HGNC + 32669 + + + SwissProt + Q2Q1W2 + + + Ensembl + ENSG00000206557 + + + + + 3p22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23240096[PMID] + + multiple PDZ domain crumbs cell polarity complex component + MPDZ + + MUPP1 + + + gene with protein product + + + + Reactome + O75970 + + + ClinVar + MPDZ + + + Ensembl + ENSG00000107186 + + + Genatlas + MPDZ + + + HGNC + 7208 + + + OMIM + 603785 + + + SwissProt + O75970 + + + + + 9p23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 269215 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269215 + Isolated Dandy-Walker malformation without hydrocephalus + + Clinical subtype + + + Subtype of disorder + + + + 15338008[PMID]_15733262[PMID]_21204220[PMID]_21307096[PMID] + + Zic family zinc finger 4 + ZIC4 + + Zinc finger protein of the cerebellum 4 + + + gene with protein product + + + + ClinVar + ZIC4 + + + SwissProt + Q8N9L1 + + + Ensembl + ENSG00000174963 + + + Genatlas + ZIC4 + + + HGNC + 20393 + + + OMIM + 608948 + + + + + 3q24 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 30773799[PMID] + + nidogen 1 + NID1 + + entactin + + + gene with protein product + + + + HGNC + 7821 + + + Ensembl + ENSG00000116962 + + + SwissProt + P14543 + + + OMIM + 131390 + + + + + 1q42.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 15338008[PMID]_15733262[PMID]_21204220[PMID]_21307096[PMID] + + Zic family zinc finger 1 + ZIC1 + + Zinc finger protein of the cerebellum 1 + ZIC + ZNF201 + + + gene with protein product + + + + Reactome + Q15915 + + + ClinVar + ZIC1 + + + Ensembl + ENSG00000152977 + + + Genatlas + ZIC1 + + + HGNC + 12872 + + + OMIM + 600470 + + + SwissProt + Q15915 + + + + + 3q24 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 269212 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269212 + Isolated Dandy-Walker malformation with hydrocephalus + + Clinical subtype + + + Subtype of disorder + + + + 15338008[PMID]_15733262[PMID]_21204220[PMID]_21307096[PMID] + + Zic family zinc finger 1 + ZIC1 + + Zinc finger protein of the cerebellum 1 + ZIC + ZNF201 + + + gene with protein product + + + + Reactome + Q15915 + + + ClinVar + ZIC1 + + + Ensembl + ENSG00000152977 + + + Genatlas + ZIC1 + + + HGNC + 12872 + + + OMIM + 600470 + + + SwissProt + Q15915 + + + + + 3q24 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 15338008[PMID]_15733262[PMID]_21204220[PMID]_21307096[PMID] + + Zic family zinc finger 4 + ZIC4 + + Zinc finger protein of the cerebellum 4 + + + gene with protein product + + + + ClinVar + ZIC4 + + + SwissProt + Q8N9L1 + + + Ensembl + ENSG00000174963 + + + Genatlas + ZIC4 + + + HGNC + 20393 + + + OMIM + 608948 + + + + + 3q24 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 1856 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1856 + Spondyloperipheral dysplasia-short ulna syndrome + + Disease + + + Disorder + + + + 15316962[PMID]_23545312[PMID] + + collagen type II alpha 1 chain + COL2A1 + + STL1 + + + gene with protein product + + + + ClinVar + COL2A1 + + + Ensembl + ENSG00000139219 + + + Genatlas + COL2A1 + + + HGNC + 2200 + + + OMIM + 120140 + + + Reactome + P02458 + + + SwissProt + P02458 + + + + + 12q13.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 280333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280333 + Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 + + Disease + + + Disorder + + + + 14678799[PMID]_21388311[PMID] + + dystroglycan 1 + DAG1 + + 156DAG + A3a + AGRNR + DAG + alpha-dystroglycan + beta-dystroglycan + dystrophin-associated glycoprotein-1 + + + gene with protein product + + + + Ensembl + ENSG00000173402 + + + Genatlas + DAG1 + + + HGNC + 2666 + + + OMIM + 128239 + + + Reactome + Q14118 + + + SwissProt + Q14118 + + + ClinVar + DAG1 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 280325 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280325 + Distal deletion 12p syndrome + + Malformation syndrome + + + Disorder + + + + 22713806[PMID] + + ELKS/RAB6-interacting/CAST family member 1 + ERC1 + + CAST2 + ELKS + KIAA1081 + MGC12974 + + + gene with protein product + + + + Ensembl + ENSG00000082805 + + + Genatlas + ERC1 + + + HGNC + 17072 + + + OMIM + 607127 + + + SwissProt + Q8IUD2 + + + ClinVar + ERC1 + + + + + 12p13.33 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 280293 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280293 + Pelizaeus-Merzbacher-like disease due to AIMP1 mutation + + Clinical subtype + + + Subtype of disorder + + + + 21092922[PMID] + + aminoacyl tRNA synthetase complex interacting multifunctional protein 1 + AIMP1 + + ARS-interacting multifunctional protein 1 + EMAP II + EMAP-2 + EMAPII + p43 + multisynthetase complex auxiliary component p43 + + + gene with protein product + + + + Ensembl + ENSG00000164022 + + + Genatlas + AIMP1 + + + HGNC + 10648 + + + OMIM + 603605 + + + Reactome + Q12904 + + + SwissProt + Q12904 + + + ClinVar + AIMP1 + + + + + 4q24 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 280288 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280288 + Pelizaeus-Merzbacher-like disease due to HSPD1 mutation + + Clinical subtype + + + Subtype of disorder + + + + 18571143[PMID] + + heat shock protein family D (Hsp60) member 1 + HSPD1 + + GROEL + HSP60 + GroEL + + + gene with protein product + + + + ClinVar + HSPD1 + + + Ensembl + ENSG00000144381 + + + Genatlas + HSPD1 + + + HGNC + 5261 + + + OMIM + 118190 + + + Reactome + P10809 + + + SwissProt + P10809 + + + + + 2q33.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 280365 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280365 + Autosomal semi-dominant severe lipodystrophic laminopathy + + Disease + + + Disorder + + + + 21346069[PMID] + + lamin A/C + LMNA + + HGPS + MADA + mandibuloacral dysplasia type A + progerin + + + gene with protein product + + + + ClinVar + LMNA + + + Ensembl + ENSG00000160789 + + + Genatlas + LMNA + + + HGNC + 6636 + + + OMIM + 150330 + + + Reactome + P02545 + + + SwissProt + P02545 + + + + + 1q22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3197 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3197 + Hereditary hyperekplexia + + Disease + + + Disorder + + + + 29390050[PMID] + + ATPase family AAA domain containing 1 + ATAD1 + + FLJ14600 + thorase + Outer mitochondrial transmembrane helix translocase + Msp1 + + + gene with protein product + + + + HGNC + 25903 + + + Ensembl + ENSG00000138138 + + + SwissProt + Q8NBU5 + + + OMIM + 614452 + + + Genatlas + ATAD1 + + + ClinVar + ATAD1 + + + + + 10q23.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301437[PMID] + + glycine receptor alpha 1 + GLRA1 + + stiff person syndrome + + + gene with protein product + + + + ClinVar + GLRA1 + + + Ensembl + ENSG00000145888 + + + Genatlas + GLRA1 + + + HGNC + 4326 + + + IUPHAR + 423 + + + OMIM + 138491 + + + 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GlyT-2 + + + gene with protein product + + + + ClinVar + SLC6A5 + + + IUPHAR + 936 + + + Ensembl + ENSG00000165970 + + + Genatlas + SLC6A5 + + + HGNC + 11051 + + + OMIM + 604159 + + + Reactome + Q9Y345 + + + SwissProt + Q9Y345 + + + + + 11p15.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3193 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3193 + Supravalvular aortic stenosis + + Morphological anomaly + + + Disorder + + + + 10942104[PMID]_19844261[PMID] + + elastin + ELN + + SVAS + WBS + WS + Williams-Beuren syndrome + supravalvular aortic stenosis + tropoelastin + + + gene with protein product + + + + ClinVar + ELN + + + Ensembl + ENSG00000049540 + + + Genatlas + ELN + + + HGNC + 3327 + + + OMIM + 130160 + + + Reactome + P15502 + + + SwissProt + P15502 + + + + + 7q11.23 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 280356 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280356 + PLIN1-related familial partial lipodystrophy + + Disease + + + Disorder + + + + 21345103[PMID] + + perilipin 1 + PLIN1 + + + + gene with protein product + + + + Ensembl + ENSG00000166819 + + + Genatlas + PLIN1 + + + HGNC + 9076 + + + OMIM + 170290 + + + Reactome + O60240 + + + SwissProt + O60240 + + + ClinVar + PLIN1 + + + + + 15q26.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 280406 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280406 + Familial steroid-resistant nephrotic syndrome with sensorineural deafness + + Disease + + + Disorder + + + + 21540551[PMID] + + coenzyme Q6, monooxygenase + COQ6 + + CGI-10 + + + gene with protein product + + + + ClinVar + COQ6 + + + Ensembl + ENSG00000119723 + + + Genatlas + COQ6 + + + HGNC + 20233 + + + OMIM + 614647 + + + Reactome + Q9Y2Z9 + + + SwissProt + Q9Y2Z9 + + + + + 14q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 280384 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280384 + Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome + + Disease + + + Disorder + + + + 21330303[PMID] + + ER lipid raft associated 2 + ERLIN2 + + Erlin-2 + NET32 + + + gene with protein product + + + + Reactome + O94905 + + + ClinVar + ERLIN2 + + + Ensembl + ENSG00000147475 + + + Genatlas + ERLIN2 + + + HGNC + 1356 + + + OMIM + 611605 + + + SwissProt + O94905 + + + + + 8p11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 280397 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280397 + Familial Alzheimer-like prion disease + + Disease + + + Disorder + + + + 21416485[PMID] + + prion protein (Kanno blood group) + PRNP + + AltPrP + CD230 + Creutzfeldt-Jakob disease + Gerstmann-Strausler-Scheinker syndrome + PRP + fatal familial insomnia + p27-30 + + + gene with protein product + + + + ClinVar + PRNP + + + Ensembl + ENSG00000171867 + + + Genatlas + PRNP + + + HGNC + 9449 + + + OMIM + 176640 + + + Reactome + P04156 + + + SwissProt + P04156 + + + + + 20p13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 280576 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280576 + Nestor-Guillermo progeria syndrome + + Malformation syndrome + + + Disorder + + + + 21549337[PMID] + + barrier to autointegration nuclear assembly factor 1 + BANF1 + + BAF + + + gene with protein product + + + + Ensembl + ENSG00000175334 + + + Genatlas + BANF1 + + + HGNC + 17397 + + + OMIM + 603811 + + + Reactome + O75531 + + + SwissProt + O75531 + + + ClinVar + BANF1 + + + + + 11q13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3220 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3220 + Deafness-enamel hypoplasia-nail defects syndrome + + Malformation syndrome + + + Disorder + + + + 26387595[PMID] + + peroxisomal biogenesis factor 1 + PEX1 + + + + gene with protein product + + + + Ensembl + ENSG00000127980 + + + Genatlas + PEX1 + + + HGNC + 8850 + + + OMIM + 602136 + + + SwissProt + O43933 + + + ClinVar + PEX1 + + + + + 7q21.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 26387595[PMID] + + peroxisomal biogenesis factor 6 + PEX6 + + PAF-2 + PXAAA1 + + + gene with protein product + + + + Ensembl + ENSG00000124587 + + + Genatlas + PEX6 + + + HGNC + 8859 + + + OMIM + 601498 + + + SwissProt + Q13608 + + + ClinVar + PEX6 + + + + + 6p21.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 280586 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280586 + Chondrodysplasia with joint dislocations, gPAPP type + + Malformation syndrome + + + Disorder + + + + 21549340[PMID] + + 3'(2'), 5'-bisphosphate nucleotidase 2 + BPNT2 + + FLJ20421 + IMPA3 + gPAPP + golgi-resident nucleotide phosphatase + Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase + + + gene with protein product + + + + Reactome + Q9NX62 + + + ClinVar + IMPAD1 + + + Ensembl + ENSG00000104331 + + + Genatlas + IMPAD1 + + + HGNC + 26019 + + + OMIM + 614010 + + + SwissProt + Q9NX62 + + + + + 8q12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 280553 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280553 + Fatal infantile hypertonic myofibrillar myopathy + + Disease + + + Disorder + + + + 21337604[PMID] + + crystallin alpha B + CRYAB + + HSPB5 + + + gene with protein product + + + + ClinVar + CRYAB + + + Reactome + P02511 + + + SwissProt + P02511 + + + Ensembl + ENSG00000109846 + + + Genatlas + CRYAB + + + HGNC + 2389 + + + OMIM + 123590 + + + + + 11q23.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 280558 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280558 + Warsaw breakage syndrome + + Malformation syndrome + + + Disorder + + + + 23033317[PMID]_20137776[PMID] + + DEAD/H-box helicase 11 + DDX11 + + CHL1 + CHL1-like helicase homolog (S. cerevisiae) + CHLR1 + KRG2 + WABS + KRG-2 + Keratinocyte growth factor-regulated gene 2 + ChlR1 + Warsaw Breakage Syndrome + + + gene with protein product + + + + ClinVar + DDX11 + + + Ensembl + ENSG00000013573 + + + Genatlas + DDX11 + + + HGNC + 2736 + + + OMIM + 601150 + + + Reactome + Q96FC9 + + + SwissProt + Q96FC9 + + + + + 12p11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 647 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647 + Nijmegen breakage syndrome + + Malformation syndrome + + + Disorder + + + + 20301355[PMID] + + nibrin + NBN + + AT-V1 + AT-V2 + ATV + + + gene with protein product + + + + Ensembl + ENSG00000104320 + + + Genatlas + NBN + + + HGNC + 7652 + + + OMIM + 602667 + + + Reactome + O60934 + + + SwissProt + O60934 + + + ClinVar + NBN + + + + + 8q21.3 + 1 + + + + 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ClinVar + C3 + + + Ensembl + ENSG00000125730 + + + Genatlas + C3 + + + HGNC + 1318 + + + OMIM + 120700 + + + Reactome + P01024 + + + SwissProt + P01024 + + + + + 19p13.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 3163 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163 + SHORT syndrome + + Malformation syndrome + + + Disorder + + + + 23810378[PMID]_23810379[PMID]_23810382[PMID] + + phosphoinositide-3-kinase regulatory subunit 1 + PIK3R1 + + GRB1 + p85 + p85-ALPHA + phosphoinositide-3-kinase regulatory subunit alpha + PI3 kinase-associated p85 + growth factor receptor bound 1 + p85alpha + + + gene with protein product + + + + IUPHAR + 2503 + + + Ensembl + ENSG00000145675 + + + Genatlas + PIK3R1 + + + HGNC + 8979 + + + OMIM + 171833 + + + Reactome + P27986 + + + SwissProt + P27986 + + + ClinVar + PIK3R1 + + + + + 5q13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1479 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1479 + Atrial septal defect-atrioventricular conduction defects syndrome + + Malformation syndrome + + + Disorder + + + + 19049681[PMID]_18375255[PMID] + + NK2 homeobox 5 + NKX2-5 + + tinman paralog (Drosophila) + CSX1 + NKX2.5 + NKX4-1 + tinman (Drosophila) homolog + + + gene with protein product + + + + Reactome + P52952 + + + SwissProt + P52952 + + + Ensembl + ENSG00000183072 + + + Genatlas + NKX2-5 + + + HGNC + 2488 + + + OMIM + 600584 + + + ClinVar + NKX2-5 + + + + + 5q35.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3156 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3156 + Senior-Loken syndrome + + Disease + + + Disorder + + + + 22819833[PMID] + + centrosomal protein 290 + CEP290 + + Bardet-Biedl syndrome 14 + cancer/testis antigen 87 + nephrocystin-6 + rd16 + 3H11Ag + BBS14 + CT87 + FLJ13615 + JBTS5 + Joubert syndrome 5 + KIAA0373 + LCA10 + MKS4 + Meckel syndrome, type 4 + NPHP6 + POC3 + POC3 centriolar protein homolog (Chlamydomonas) + SLSN6 + + + gene with protein product + + + + ClinVar + CEP290 + + + Ensembl + ENSG00000198707 + + + Genatlas + CEP290 + + + HGNC + 29021 + + + OMIM + 610142 + + + Reactome + O15078 + + + SwissProt + O15078 + + + + + 12q21.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 16522655[PMID]_22819833[PMID] + + inversin + INVS + + nephrocystin 2 + + + gene with protein product + + + + ClinVar + INVS + + + Ensembl + ENSG00000119509 + + + Genatlas + INVS + + + HGNC + 17870 + + + OMIM + 243305 + + + SwissProt + Q9Y283 + + + + + 9q31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22819833[PMID] + + IQ motif containing B1 + IQCB1 + + KIAA0036 + NPHP5 + SLSN5 + nephrocystin-5 + + + gene with protein product + + + + ClinVar + IQCB1 + + + Ensembl + ENSG00000173226 + + + Genatlas + IQCB1 + + + HGNC + 28949 + + + OMIM + 609237 + + + Reactome + Q15051 + + + SwissProt + 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centriolar protein homolog (Chlamydomonas) + SLSN4 + nephroretinin + + + gene with protein product + + + + ClinVar + NPHP4 + + + Ensembl + ENSG00000131697 + + + Genatlas + NPHP4 + + + HGNC + 19104 + + + OMIM + 607215 + + + Reactome + O75161 + + + SwissProt + O75161 + + + + + 1p36.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22819833[PMID] + + SHH signaling and ciliogenesis regulator SDCCAG8 + SDCCAG8 + + BBS16 + CCCAP + NPHP10 + NY-CO-8 + SLSN7 + nephrocystin 10 + Senior-Loken syndrome 7 + centrosomal colon cancer autoantigen protein + Bardet-Biedl syndrome 16 + + + gene with protein product + + + + HGNC + 10671 + + + OMIM + 613524 + + + Reactome + Q86SQ7 + + + SwissProt + Q86SQ7 + + + Ensembl + ENSG00000054282 + + + Genatlas + SDCCAG8 + + + ClinVar + SDCCAG8 + + + + + 1q43-q44 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23683095[PMID] + + WD repeat domain 19 + WDR19 + + Pwdmp + intraflagellar transport 144 homolog 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Disease-causing germline mutation(s) in + + + Assessed + + + + + + fibroblast growth factor 8 + FGF8 + + AIGF + androgen-induced growth factor + + + gene with protein product + + + + SwissProt + P55075 + + + Ensembl + ENSG00000107831 + + + Genatlas + FGF8 + + + HGNC + 3686 + + + OMIM + 600483 + + + Reactome + P55075 + + + ClinVar + FGF8 + + + + + 10q24.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + dispatched RND transporter family member 1 + DISP1 + + DISPA + DKFZP434I0428 + MGC13130 + MGC16796 + + + gene with protein product + + + + Ensembl + ENSG00000154309 + + + Genatlas + DISP1 + + + HGNC + 19711 + + + OMIM + 607502 + + + SwissProt + Q96F81 + + + ClinVar + DISP1 + + + + + 1q41 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + cell adhesion associated, oncogene regulated + CDON + + CDO + CDON1 + ORCAM + cell adhesion molecule-related/down-regulated by oncogenes + Ihog + + + gene with protein product + + + + Ensembl 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280282 + Pelizaeus-Merzbacher-like disease due to GJC2 mutation + + Clinical subtype + + + Subtype of disorder + + + + 22669416[PMID]_24374284[PMID] + + gap junction protein gamma 2 + GJC2 + + CX46.6 + CX47 + SPG44 + connexin 47 + + + gene with protein product + + + + ClinVar + GJC2 + + + Ensembl + ENSG00000198835 + + + Genatlas + GJC2 + + + HGNC + 17494 + + + OMIM + 608803 + + + Reactome + Q5T442 + + + SwissProt + Q5T442 + + + IUPHAR + 731 + + + + + 1q42.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 280270 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280270 + Pelizaeus-Merzbacher-like disease + + Disease + + + Disorder + + + + 35217805[PMID] + + mal, T cell differentiation protein (MAL blood group) + MAL + + MVP17 + VIP17 + myelin and lymphocyte protein + + + gene with protein product + + + + Ensembl + ENSG00000172005 + + + OMIM + 188860 + + + SwissProt + P21145 + + + 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focal hyperinsulinism due to Kir6.2 deficiency + + Disease + + + Disorder + + + + 21967988[PMID] + + potassium inwardly rectifying channel subfamily J member 11 + KCNJ11 + + ATP-sensitive inward rectifier potassium channel 11 + BIR + Kir6.2 + beta-cell inward rectifier + + + gene with protein product + + + + Ensembl + ENSG00000187486 + + + Genatlas + KCNJ11 + + + HGNC + 6257 + + + IUPHAR + 442 + + + OMIM + 600937 + + + Reactome + Q14654 + + + SwissProt + Q14654 + + + ClinVar + KCNJ11 + + + + + 11p15.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 276621 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276621 + Sporadic pheochromocytoma/secreting paraganglioma + + Disease + + + Disorder + + + + 12000816[PMID] + + succinate dehydrogenase complex subunit D + SDHD + + cybS + small subunit of cytochrome b + + + gene with protein product + + + + ClinVar + SDHD + + + Ensembl + ENSG00000204370 + + + Genatlas + SDHD + + + HGNC + 10683 + + + OMIM 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23418310[PMID] + + endothelial PAS domain protein 1 + EPAS1 + + HIF-1 alpha-like factor + HIF2A + HLF + MOP2 + PASD2 + bHLHe73 + + + gene with protein product + + + + IUPHAR + 3148 + + + ClinVar + EPAS1 + + + OMIM + 603349 + + + Reactome + Q99814 + + + SwissProt + Q99814 + + + Ensembl + ENSG00000116016 + + + Genatlas + EPAS1 + + + HGNC + 3374 + + + + + 2p21 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 12000816[PMID]_27539324[PMID] + + von Hippel-Lindau tumor suppressor + VHL + + VHL1 + + + gene with protein product + + + + ClinVar + VHL + + + IUPHAR + 3204 + + + Ensembl + ENSG00000134086 + + + Genatlas + VHL + + + HGNC + 12687 + + + OMIM + 608537 + + + Reactome + P40337 + + + SwissProt + P40337 + + + + + 3p25.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 12000816[PMID] + + ret proto-oncogene + RET + + CDHF12 + CDHR16 + PTC + RET receptor tyrosine kinase + RET51 + cadherin-related family member 16 + rearranged during transfection + 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synostosis + + Malformation syndrome + + + Disorder + + + + 27381093[PMID] + + myosin heavy chain 3 + MYH3 + + HEMHC + MYHC-EMB + MYHSE1 + SMHCE + muscle embryonic myosin heavy chain 3 + myosin, skeletal, heavy chain, embryonic 1 + + + gene with protein product + + + + ClinVar + MYH3 + + + Ensembl + ENSG00000109063 + + + Genatlas + MYH3 + + + HGNC + 7573 + + + OMIM + 160720 + + + Reactome + P11055 + + + SwissProt + P11055 + + + + + 17p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301736[PMID] + + filamin B + FLNB + + ABP-278 + FH1 + TABP + TAP + actin binding protein 278 + beta filamin + + + gene with protein product + + + + Ensembl + ENSG00000136068 + + + Genatlas + FLNB + + + HGNC + 3755 + + + OMIM + 603381 + + + Reactome + O75369 + + + SwissProt + O75369 + + + ClinVar + FLNB + + + + + 3p14.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 425 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425 + Apolipoprotein A-I deficiency + + Disease + + + Disorder + + + + 8240372[PMID]_8282791[PMID] + + apolipoprotein A1 + APOA1 + + + + gene with protein product + + + + Ensembl + ENSG00000118137 + + + Genatlas + APOA1 + + + HGNC + 600 + + + OMIM + 107680 + + + Reactome + P02647 + + + SwissProt + P02647 + + + ClinVar + APOA1 + + + + + 11q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 15158913[PMID]_22959828[PMID] + + ATP binding cassette subfamily A member 1 + ABCA1 + + TGD + Tangier disease + + + gene with protein product + + + + IUPHAR + 756 + + + ClinVar + ABCA1 + + + Ensembl + ENSG00000165029 + + + Genatlas + ABCA1 + + + HGNC + 29 + + + OMIM + 600046 + + + Reactome + O95477 + + + SwissProt + O95477 + + + + + 9q31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3301 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3301 + Tetraamelia-multiple malformations syndrome + + Malformation syndrome + + + Disorder + + + + 29769720[PMID] + + R-spondin 2 + RSPO2 + + MGC35555 + + + gene with protein product + + + + HGNC + 28583 + + + ClinVar + RSPO2 + + + Ensembl + ENSG00000147655 + + + SwissProt + Q6UXX9 + + + OMIM + 610575 + + + Genatlas + RSPO2 + + + Reactome + Q6UXX9 + + + + + 8q23.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 31965066[PMID] + + T-box transcription factor 4 + TBX4 + + + + gene with protein product + + + + Ensembl + ENSG00000121075 + + + Genatlas + TBX4 + + + HGNC + 11603 + + + OMIM + 601719 + + + SwissProt + P57082 + + + ClinVar + TBX4 + + + + + 17q23.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 14872406[PMID]_20301453[PMID] + + Wnt family member 3 + WNT3 + + MGC131950 + MGC138321 + MGC138323 + WNT-3 proto-oncogene protein + + + gene with protein product + + + + ClinVar + WNT3 + + + Ensembl + ENSG00000108379 + + + Genatlas + WNT3 + + + HGNC + 12782 + + + OMIM + 165330 + + + Reactome + P56703 + + + SwissProt + P56703 + + + + + 17q21.31-q21.32 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 276198 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276198 + Spinocerebellar ataxia type 36 + + Disease + + + Disorder + + + + + + NOP56 ribonucleoprotein + NOP56 + + SCA36 + spinocerebellar ataxia 36 + + + gene with protein product + + + + ClinVar + NOP56 + + + Ensembl + ENSG00000101361 + + + Genatlas + NOP56 + + + HGNC + 15911 + + + OMIM + 614154 + + + Reactome + O00567 + + + SwissProt + O00567 + + + + + 20p13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 276193 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276193 + Spinocerebellar ataxia type 35 + + Disease + + + Disorder + + + + + + transglutaminase 6 + TGM6 + + SCA35 + TGY + dJ734P14.3 + spinocerebellar ataxia 35 + protein-glutamine 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Cardiospondylocarpofacial syndrome + + Malformation syndrome + + + Disorder + + + + 27426734[PMID] + + mitogen-activated protein kinase kinase kinase 7 + MAP3K7 + + MEKK7 + TGF-beta activated kinase 1 + + + gene with protein product + + + + ClinVar + MAP3K7 + + + HGNC + 6859 + + + OMIM + 602614 + + + Genatlas + MAP3K7 + + + SwissProt + O43318 + + + Reactome + O43318 + + + Ensembl + ENSG00000135341 + + + IUPHAR + 2082 + + + + + 6q15 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3237 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3237 + Multiple synostoses syndrome + + Malformation syndrome + + + Disorder + + + + 16532400[PMID] + + growth differentiation factor 5 + GDF5 + + BMP14 + CDMP1 + cartilage-derived morphogenetic protein-1 + + + gene with protein product + + + + ClinVar + GDF5 + + + OMIM + 601146 + + + Reactome + P43026 + + + SwissProt + P43026 + + + Ensembl + ENSG00000125965 + + + Genatlas + GDF5 + + + HGNC + 4220 + + + + + 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GDF6 + + + HGNC + 4221 + + + OMIM + 601147 + + + SwissProt + Q6KF10 + + + + + 8q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 276405 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276405 + Hyperbiliverdinemia + + Disease + + + Disorder + + + + 21278388[PMID] + + biliverdin reductase A + BLVRA + + BVRA + biliverdin reductase IXalpha + BVRalpha + + + gene with protein product + + + + ClinVar + BLVRA + + + OMIM + 109750 + + + Reactome + P53004 + + + SwissProt + P53004 + + + Ensembl + ENSG00000106605 + + + Genatlas + BLVRA + + + HGNC + 1062 + + + + + 7p13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3250 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3250 + Proximal symphalangism + + Malformation syndrome + + + Disorder + + + + 18283415[PMID]_16892395[PMID] + + growth differentiation factor 5 + GDF5 + + BMP14 + CDMP1 + cartilage-derived morphogenetic protein-1 + + + gene with protein product + + + + ClinVar + GDF5 + + + OMIM + 601146 + + + Reactome + P43026 + + + SwissProt + P43026 + + + Ensembl + ENSG00000125965 + + + Genatlas + GDF5 + + + HGNC + 4220 + + + + + 20q11.22 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 11846737[PMID]_24326127[PMID] + + noggin + NOG + + + + gene with protein product + + + + Ensembl + ENSG00000183691 + + + Genatlas + NOG + + + HGNC + 7866 + + + OMIM + 602991 + + + Reactome + Q13253 + + + SwissProt + Q13253 + + + ClinVar + NOG + + + + + 17q22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3255 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3255 + Filippi syndrome + + Malformation syndrome + + + Disorder + + + + 25439729[PMID] + + cytoskeleton associated protein 2 like + CKAP2L + + FLJ40629 + radial fiber and mitotic spindle + radmis + + + gene with protein product + + + + OMIM + 616174 + + + SwissProt + Q8IYA6 + + + ClinVar + CKAP2L + + + Ensembl + ENSG00000169607 + + + Genatlas + CKAP2L + + + HGNC + 26877 + + + + + 2q14.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 276556 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276556 + Hyperinsulinism due to UCP2 deficiency + + Disease + + + Disorder + + + + 19065272[PMID]_25733449[PMID] + + uncoupling protein 2 + UCP2 + + SLC25A8 + + + gene with protein product + + + + IUPHAR + 1067 + + + Ensembl + ENSG00000175567 + + + Genatlas + UCP2 + + + HGNC + 12518 + + + OMIM + 601693 + + + Reactome + P55851 + + + SwissProt + P55851 + + + ClinVar + UCP2 + + + + + 11q13.4 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 276432 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276432 + Ogden syndrome + + Malformation syndrome + + + Disorder + + + + 21700266[PMID] + + N-alpha-acetyltransferase 10, NatA catalytic subunit + NAA10 + + DXS707 + TE2 + arrest defective protein 1 + + + gene with protein product + + + + Ensembl + ENSG00000102030 + + + Genatlas + ARD1A + + + HGNC + 18704 + + + OMIM + 300013 + + + SwissProt + P41227 + + + ClinVar + ARD1A + + + Reactome + P41227 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3253 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3253 + Cleft lip/palate-ectodermal dysplasia syndrome + + Malformation syndrome + + + Disorder + + + + 10932188[PMID] + + nectin cell adhesion molecule 1 + NECTIN1 + + Nectin-1 + CLPED1 + HIgR + OFC7 + PRR + PRR1 + PVRR1 + SK-12 + nectin + CD111 + + + gene with protein product + + + + ClinVar + NECTIN1 + + + Ensembl + ENSG00000110400 + + + Genatlas + PVRL1 + + + HGNC + 9706 + + + OMIM + 600644 + + + Reactome + Q15223 + + + SwissProt + Q15223 + + + + + 11q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 276435 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276435 + Lower motor neuron syndrome with late-adult onset + + Disease + + + Disorder + + + + 25428574[PMID] + + coiled-coil-helix-coiled-coil-helix domain containing 10 + CHCHD10 + + MIX17 homolog A + MIX17A + N27C7-4 + + + gene with protein product + + + + Reactome + Q8WYQ3 + + + ClinVar + CHCHD10 + + + Ensembl + ENSG00000250479 + + + Genatlas + CHCHD10 + + + HGNC + 15559 + + + OMIM + 615903 + + + SwissProt + Q8WYQ3 + + + + + 22q11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 911 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=911 + Combined immunodeficiency due to ZAP70 deficiency + + Disease + + + Disorder + + + + 20301777[PMID] + + zeta chain of T-cell receptor associated protein kinase 70 + ZAP70 + + STD + ZAP-70 + tyrosine-protein kinase ZAP-70 + + + gene with protein product + + + + ClinVar + ZAP70 + + + HGNC + 12858 + + + IUPHAR + 2285 + + + OMIM + 176947 + + + 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Disorder + + + + 25242243[PMID]_23852823[PMID]_20301327[PMID] + + coagulation factor II, thrombin + F2 + + prepro-coagulation factor II + + + gene with protein product + + + + ClinVar + F2 + + + Ensembl + ENSG00000180210 + + + Genatlas + F2 + + + HGNC + 3535 + + + IUPHAR + 2362 + + + OMIM + 176930 + + + Reactome + P00734 + + + SwissProt + P00734 + + + + + 11p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 343 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=343 + Hyperimmunoglobulinemia D with periodic fever + + Clinical subtype + + + Subtype of disorder + + + + 11313769[PMID]_10369262[PMID] + + mevalonate kinase + MVK + + LH receptor mRNA-binding protein + LRBP + MK + mevalonic aciduria + + + gene with protein product + + + + ClinVar + MVK + + + Ensembl + ENSG00000110921 + + + Genatlas + MVK + + + HGNC + 7530 + + + IUPHAR + 640 + + + OMIM + 251170 + + + Reactome + Q03426 + + + SwissProt + Q03426 + + + + + 12q24.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 572 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572 + Immunodeficiency by defective expression of MHC class II + + Disease + + + Disorder + + + + + + regulatory factor X5 + RFX5 + + + + gene with protein product + + + + ClinVar + RFX5 + + + Ensembl + ENSG00000143390 + + + Genatlas + RFX5 + + + HGNC + 9986 + + + OMIM + 601863 + + + SwissProt + P48382 + + + Reactome + P48382 + + + + + 1q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + regulatory factor X associated ankyrin containing protein + RFXANK + + ANKRA1 + BLS + DNA-binding protein RFXANK + F14150_1 + MGC138628 + RFX-B + RFX-Bdelta4 + ankyrin repeat-containing regulatory factor X-associated protein + regulatory factor X subunit B + + + gene with protein product + + + + ClinVar + RFXANK + + + Ensembl + ENSG00000064490 + + + Genatlas + RFXANK + + + HGNC + 9987 + + + OMIM + 603200 + + + SwissProt + O14593 + + + + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1930 + Herpes simplex virus encephalitis + + Disease + + + Disorder + + + + 16973841[PMID] + + unc-93B1 regulator of TLR signaling + UNC93B1 + + UNC-93B + UNC93 + + + gene with protein product + + + + ClinVar + UNC93B1 + + + Ensembl + ENSG00000110057 + + + Genatlas + UNC93B1 + + + HGNC + 13481 + + + OMIM + 608204 + + + Reactome + Q9H1C4 + + + SwissProt + Q9H1C4 + + + + + 11q13.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 17872438[PMID] + + toll like receptor 3 + TLR3 + + CD283 + + + gene with protein product + + + + ClinVar + TLR3 + + + Ensembl + ENSG00000164342 + + + Genatlas + TLR3 + + + HGNC + 11849 + + + OMIM + 603029 + + + Reactome + O15455 + + + SwissProt + O15455 + + + IUPHAR + 1753 + + + + + 4q35.1 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 22105173[PMID] + + TIR domain containing adaptor molecule 1 + TICAM1 + + TIR domain-containing adaptor-inducing interferon-ß + TIR 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Self-limited epilepsy with centrotemporal spikes + + Disease + + + Disorder + + + + 25726841[PMID] + + gamma-aminobutyric acid type A receptor subunit gamma2 + GABRG2 + + GABA(A) receptor, gamma 2 + + + gene with protein product + + + + ClinVar + GABRG2 + + + Ensembl + ENSG00000113327 + + + Genatlas + GABRG2 + + + HGNC + 4087 + + + IUPHAR + 414 + + + OMIM + 137164 + + + Reactome + P18507 + + + SwissProt + P18507 + + + + + 5q34 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23933819[PMID] + + glutamate ionotropic receptor NMDA type subunit 2A + GRIN2A + + GluN2A + NR2A + + + gene with protein product + + + + ClinVar + GRIN2A + + + Ensembl + ENSG00000183454 + + + Genatlas + GRIN2A + + + HGNC + 4585 + + + IUPHAR + 456 + + + OMIM + 138253 + + + Reactome + Q12879 + + + SwissProt + Q12879 + + + + + 16p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + sushi repeat containing protein X-linked 2 + SRPX2 + + SRPUL + + + gene with 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20 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=20 + 3-hydroxy-3-methylglutaric aciduria + + Disease + + + Disorder + + + + 19177531[PMID] + + 3-hydroxy-3-methylglutaryl-CoA lyase + HMGCL + + HMG-CoA lyase + HMGCL1 + Hydroxymethylglutaryl-CoA lyase, mitochondrial + hydroxymethylglutaryl-CoA lyase + HL + hydroxymethylglutaricaciduria + + + gene with protein product + + + + ClinVar + HMGCL + + + Ensembl + ENSG00000117305 + + + Genatlas + HMGCL + + + HGNC + 5005 + + + OMIM + 613898 + + + Reactome + P35914 + + + SwissProt + P35914 + + + + + 1p36.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 714 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714 + Hemolytic anemia due to diphosphoglycerate mutase deficiency + + Disease + + + Disorder + + + + 15054810[PMID] + + bisphosphoglycerate mutase + BPGM + + + + gene with protein product + + + + ClinVar + BPGM + + + HGNC + 1093 + + + OMIM + 613896 + + + SwissProt + P07738 + + + 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dystrophy R12 + + Disease + + + Disorder + + + + 20301582[PMID] + + anoctamin 5 + ANO5 + + GDD1 + + + gene with protein product + + + + Ensembl + ENSG00000171714 + + + Genatlas + ANO5 + + + HGNC + 27337 + + + OMIM + 608662 + + + Reactome + Q75V66 + + + SwissProt + Q75V66 + + + ClinVar + ANO5 + + + + + 11p14.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 206564 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206564 + POMGNT1-related limb-girdle muscular dystrophy R15 + + Disease + + + Disorder + + + + 20301582[PMID]_18195152[PMID] + + protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) + POMGNT1 + + FLJ20277 + LGMD2O + MGAT1.2 + protein O-mannose beta-1,2-N-acetylglucosaminyltransferase + + + gene with protein product + + + + Reactome + Q8WZA1 + + + Ensembl + ENSG00000085998 + + + Genatlas + POMGNT1 + + + HGNC + 19139 + + + OMIM + 606822 + + + SwissProt + Q8WZA1 + + + ClinVar + POMGNT1 + + + + + 1p34.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 206559 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206559 + POMT2-related limb-girdle muscular dystrophy R14 + + Disease + + + Disorder + + + + 20301582[PMID] + + protein O-mannosyltransferase 2 + POMT2 + + Dolichyl-phosphate-mannose--protein mannosyltransferase + LGMD2N + + + gene with protein product + + + + Reactome + Q9UKY4 + + + ClinVar + POMT2 + + + Ensembl + ENSG00000009830 + + + Genatlas + POMT2 + + + HGNC + 19743 + + + OMIM + 607439 + + + SwissProt + Q9UKY4 + + + + + 14q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 206580 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206580 + Autosomal recessive lower motor neuron disease with childhood onset + + Disease + + + Disorder + + + + 17564964[PMID] + + pleckstrin homology and RhoGEF domain containing G5 + PLEKHG5 + + GEF720 + KIAA0720 + Syx + Tech + synectin-binding guanine exchange factor + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3206 + Stüve-Wiedemann syndrome + + Malformation syndrome + + + Disorder + + + + 24618404[PMID] + + LIF receptor subunit alpha + LIFR + + CD118 + + + gene with protein product + + + + ClinVar + LIFR + + + Ensembl + ENSG00000113594 + + + Genatlas + LIFR + + + HGNC + 6597 + + + OMIM + 151443 + + + Reactome + P42702 + + + SwissProt + P42702 + + + IUPHAR + 1713 + + + + + 5p13.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 206583 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206583 + Adult polyglucosan body disease + + Clinical subtype + + + Subtype of disorder + + + + 10762170[PMID] + + 1,4-alpha-glucan branching enzyme 1 + GBE1 + + Andersen disease + glycogen branching enzyme + glycogen storage disease type IV + + + gene with protein product + + + + ClinVar + GBE1 + + + OMIM + 607839 + + + Reactome + Q04446 + + + SwissProt + Q04446 + + + Ensembl + 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15322982[PMID]_25685757[PMID]_20301475[PMID] + + retinol dehydrogenase 12 + RDH12 + + FLJ30273 + LCA13 + RP53 + SDR7C2 + short chain dehydrogenase/reductase family 7C, member 2 + + + gene with protein product + + + + ClinVar + RDH12 + + + Ensembl + ENSG00000139988 + + + Genatlas + RDH12 + + + HGNC + 19977 + + + OMIM + 608830 + + + Reactome + Q96NR8 + + + SwissProt + Q96NR8 + + + + + 14q24.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 25495949[PMID]_25685757[PMID]_20301475[PMID] + + retinoid isomerohydrolase RPE65 + RPE65 + + BCO family, member 3 + BCO3 + LCA2 + all-trans-retinyl-palmitate hydrolase + rd12 + retinol isomerase + + + gene with protein product + + + + Ensembl + ENSG00000116745 + + + Genatlas + RPE65 + + + HGNC + 10294 + + + OMIM + 180069 + + + Reactome + Q16518 + + + SwissProt + Q16518 + + + ClinVar + RPE65 + + + + + 1p31.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 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Disease-causing germline mutation(s) in + + + Assessed + + + + 25685757[PMID]_20301475[PMID] + + AIP like 1 HSP90 co-chaperone + AIPL1 + + + + gene with protein product + + + + Ensembl + ENSG00000129221 + + + Genatlas + AIPL1 + + + HGNC + 359 + + + OMIM + 604392 + + + SwissProt + Q9NZN9 + + + Reactome + Q9NZN9 + + + ClinVar + AIPL1 + + + + + 17p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 17962469[PMID]_25685757[PMID]_20301475[PMID] + + TUB like protein 1 + TULP1 + + LCA15 + TUBL1 + + + gene with protein product + + + + Reactome + O00294 + + + Ensembl + ENSG00000112041 + + + Genatlas + TULP1 + + + HGNC + 12423 + + + OMIM + 602280 + + + SwissProt + O00294 + + + ClinVar + TULP1 + + + + + 6p21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 25685757[PMID]_20301475[PMID] + + crumbs cell polarity complex component 1 + CRB1 + + LCA8 + + + gene with protein product + + + + Ensembl + ENSG00000134376 + + + Genatlas + CRB1 + + 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31184804[PMID] + + integrin subunit beta 4 + ITGB4 + + CD104 + + + gene with protein product + + + + ClinVar + ITGB4 + + + Ensembl + ENSG00000132470 + + + Genatlas + ITGB4 + + + HGNC + 6158 + + + OMIM + 147557 + + + Reactome + P16144 + + + SwissProt + P16144 + + + IUPHAR + 2458 + + + + + 17q25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23785305[PMID] + + BMS1 ribosome biogenesis factor + BMS1 + + KIAA0187 + + + gene with protein product + + + + Reactome + Q14692 + + + ClinVar + BMS1 + + + Ensembl + ENSG00000165733 + + + Genatlas + BMS1 + + + HGNC + 23505 + + + OMIM + 611448 + + + SwissProt + Q14692 + + + + + 10q11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26299364[PMID] + + delta like canonical Notch ligand 4 + DLL4 + + + + gene with protein product + + + + Ensembl + ENSG00000128917 + + + Genatlas + DLL4 + + + HGNC + 2910 + + + OMIM + 605185 + + + Reactome + Q9NR61 + + + SwissProt + Q9NR61 + + + ClinVar + DLL4 + 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208513 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208513 + Spinocerebellar ataxia type 29 + + Disease + + + Disorder + + + + 22986007[PMID] + + inositol 1,4,5-trisphosphate receptor type 1 + ITPR1 + + ACV + IP3R1 + Insp3r1 + PPP1R94 + protein phosphatase 1, regulatory subunit 94 + + + gene with protein product + + + + Ensembl + ENSG00000150995 + + + Genatlas + ITPR1 + + + HGNC + 6180 + + + OMIM + 147265 + + + Reactome + Q14643 + + + SwissProt + Q14643 + + + ClinVar + ITPR1 + + + IUPHAR + 743 + + + + + 3p26.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 208447 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208447 + Bilateral generalized polymicrogyria + + Clinical subtype + + + Subtype of disorder + + + + 29365063[PMID] + + glutamate ionotropic receptor NMDA type subunit 1 + GRIN1 + + GluN1 + NR1 + + + gene with protein product + + + + Ensembl + ENSG00000176884 + + + Genatlas + GRIN1 + + + HGNC + 4584 + + + IUPHAR + 455 + + + OMIM + 138249 + + + Reactome + Q05586 + + + SwissProt + Q05586 + + + ClinVar + GRIN1 + + + + + 9q34.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3051 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3051 + Nicolaides-Baraitser syndrome + + Malformation syndrome + + + Disorder + + + + 22366787[PMID] + + SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 + SMARCA2 + + brahma homolog + BAF190 + BRM + SNF2 + SNF2LA + SWI2 + Sth1p + hBRM + hSNF2a + + + gene with protein product + + + + Ensembl + ENSG00000080503 + + + Genatlas + SMARCA2 + + + HGNC + 11098 + + + IUPHAR + 2739 + + + OMIM + 600014 + + + Reactome + P51531 + + + SwissProt + P51531 + + + ClinVar + SMARCA2 + + + + + 9p24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 208441 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208441 + Bilateral parasagittal parieto-occipital polymicrogyria + + Clinical subtype 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SLC25A24 + + + IUPHAR + 1077 + + + HGNC + 20662 + + + SwissProt + Q6NUK1 + + + + + 1p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1541 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1541 + Craniosynostosis, Boston type + + Malformation syndrome + + + Disorder + + + + 23918290[PMID]_23949913[PMID] + + msh homeobox 2 + MSX2 + + CRS2 + FPP + HOX8 + MSH + PFM + craniosynostosis, type 2 + + + gene with protein product + + + + Reactome + P35548 + + + ClinVar + MSX2 + + + Ensembl + ENSG00000120149 + + + Genatlas + MSX2 + + + HGNC + 7392 + + + OMIM + 123101 + + + SwissProt + P35548 + + + + + 5q35.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1415 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1415 + Hardikar syndrome + + Malformation syndrome + + + Disorder + + + + 33244166[PMID]_35385210[PMID] + + mediator complex subunit 12 + MED12 + + CAGH45 + HOPA + KIAA0192 + OKS + OPA1 + TRAP230 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proximal spinal muscular atrophy + + Disease + + + Disorder + + + + 15372378[PMID]_24212516[PMID] + + VAMP associated protein B and C + VAPB + + ALS8 + VAP-B + VAP-C + + + gene with protein product + + + + ClinVar + VAPB + + + Ensembl + ENSG00000124164 + + + Genatlas + VAPB + + + HGNC + 12649 + + + OMIM + 605704 + + + Reactome + O95292 + + + SwissProt + O95292 + + + + + 20q13.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 209341 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209341 + DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy + + Etiological subtype + + + Subtype of disorder + + + + 22459677[PMID] + + dynein cytoplasmic 1 heavy chain 1 + DYNC1H1 + + CMT2O + DHC1 + Dnchc1 + HL-3 + p22 + + + gene with protein product + + + + Ensembl + ENSG00000197102 + + + Genatlas + DYNC1H1 + + + HGNC + 2961 + + + OMIM + 600112 + + + Reactome + Q14204 + + + SwissProt + Q14204 + + + ClinVar + DYNC1H1 + + + + + 14q32.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 210110 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210110 + Intermediate osteopetrosis + + Malformation syndrome + + + Disorder + + + + 24535816[PMID]_25829125[PMID] + + T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 + TCIRG1 + + ATP6N1C + ATP6V0A3 + Atp6i + OC-116 + OC116 + T-cell immune response cDNA 7 + TIRC7 + a3 + V-ATPase subunit a3 + + + gene with protein product + + + + Ensembl + ENSG00000110719 + + + Genatlas + TCIRG1 + + + HGNC + 11647 + + + OMIM + 604592 + + + Reactome + Q13488 + + + SwissProt + Q13488 + + + ClinVar + TCIRG1 + + + IUPHAR + 825 + + + + + 11q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 12522560[PMID]_20301306[PMID] + + chloride voltage-gated channel 7 + CLCN7 + + CLC-7 + CLC7 + OPTA2 + PPP1R63 + protein phosphatase 1, regulatory subunit 63 + ClC-7 + + + gene with protein product + + + + OMIM + 602727 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receptor antagonist + + + gene with protein product + + + + Ensembl + ENSG00000136689 + + + Genatlas + IL1RN + + + HGNC + 6000 + + + OMIM + 147679 + + + Reactome + P18510 + + + SwissProt + P18510 + + + ClinVar + IL1RN + + + + + 2q14.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 209981 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209981 + IRIDA syndrome + + Disease + + + Disorder + + + + 19357398[PMID]_20232450[PMID]_25252070[PMID] + + transmembrane serine protease 6 + TMPRSS6 + + FLJ30744 + MT2 + matriptase-2 + + + gene with protein product + + + + Ensembl + ENSG00000187045 + + + Genatlas + TMPRSS6 + + + HGNC + 16517 + + + IUPHAR + 2422 + + + OMIM + 609862 + + + SwissProt + Q8IU80 + + + Reactome + Q8IU80 + + + ClinVar + TMPRSS6 + + + + + 22q12.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 210122 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210122 + Congenital alveolar capillary dysplasia + + Disease + + + Disorder + + + + 19500772[PMID]_23505205[PMID] + + forkhead box F1 + FOXF1 + + FREAC1 + + + gene with protein product + + + + Ensembl + ENSG00000103241 + + + Genatlas + FOXF1 + + + HGNC + 3809 + + + OMIM + 601089 + + + SwissProt + Q12946 + + + ClinVar + FOXF1 + + + + + 16q24.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 210128 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210128 + Urocanic aciduria + + Disease + + + Disorder + + + + 19304569[PMID] + + urocanate hydratase 1 + UROC1 + + FLJ31300 + HMFN0320 + urocanase 1 + + + gene with protein product + + + + ClinVar + UROC1 + + + HGNC + 26444 + + + OMIM + 613012 + + + Reactome + Q96N76 + + + SwissProt + Q96N76 + + + Ensembl + ENSG00000159650 + + + Genatlas + UROC1 + + + + + 3q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2254 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2254 + Pontocerebellar hypoplasia type 1 + + Malformation syndrome + + + Disorder + + + + 30976113[PMID] + + ATP/GTP binding carboxypeptidase 1 + AGTPBP1 + + KIAA1035 + Nna1 + CCP1 + cytosolic carboxypeptidase 1 + tubulinyl-Tyr carboxypeptidase + carboxypeptidase-tubulin + tyrosine carboxypeptidase + soluble carboxypeptidase + + + gene with protein product + + + + HGNC + 17258 + + + Ensembl + ENSG00000135049 + + + SwissProt + Q9UPW5 + + + Reactome + Q9UPW5 + + + OMIM + 606830 + + + + + 9q21.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 19646678[PMID] + + VRK serine/threonine kinase 1 + VRK1 + + + + gene with protein product + + + + Ensembl + ENSG00000100749 + + + Genatlas + VRK1 + + + HGNC + 12718 + + + IUPHAR + 2275 + + + OMIM + 602168 + + + Reactome + Q99986 + + + SwissProt + Q99986 + + + ClinVar + VRK1 + + + + + 14q32.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22544365[PMID]_25144110[PMID] + + exosome component 3 + EXOSC3 + + CGI-102 + CGI-102 protein + Exosome component Rrp40 + RRP40 + Rrp40p + hRrp-40 + hRrp40p + p10 + exosome component Rrp40 + + + gene with protein product + + + + Ensembl + ENSG00000107371 + + + Genatlas + EXOSC3 + + + HGNC + 17944 + + + OMIM + 606489 + + + Reactome + Q9NQT5 + + + SwissProt + Q9NQT5 + + + ClinVar + EXOSC3 + + + + + 9p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24989451[PMID] + + exosome component 8 + EXOSC8 + + CBP-interacting protein 3 + CIP3 + EAP2 + OIP2 + Opa interacting protein 2 + RRP43 + Rrp43p + bA421P11.3 + p9 + + + gene with protein product + + + + ClinVar + EXOSC8 + + + Reactome + Q96B26 + + + SwissProt + Q96B26 + + + Ensembl + ENSG00000120699 + + + Genatlas + EXOSC8 + + + HGNC + 17035 + + + OMIM + 606019 + + + + + 13q13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 28637197[PMID] + + solute carrier family 25 member 46 + SLC25A46 + + Mitochondrial outer membrane protein + + + gene with protein product + + + + Reactome + Q96AG3 + + + HGNC + 25198 + + + IUPHAR + 1096 + + + OMIM + 610826 + + + SwissProt + Q96AG3 + + + Ensembl + ENSG00000164209 + + + Genatlas + SLC25A46 + + + ClinVar + SLC25A46 + + + + + 5q22.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 29727687[PMID] + + exosome component 9 + EXOSC9 + + p5 + p6 + PM/Scl-75 + polymyositis/scleroderma autoantigen 1 (75kD) + RRP45 + Rrp45p + + + gene with protein product + + + + HGNC + 9137 + + + Ensembl + ENSG00000123737 + + + SwissProt + Q06265 + + + OMIM + 606180 + + + Genatlas + EXOSC9 + + + Reactome + Q06265 + + + ClinVar + EXOSC9 + + + + + 4q27 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 209951 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209951 + Autosomal spastic paraplegia type 18 + + Disease + + + Disorder + + + + 21330303[PMID] + + ER lipid raft associated 2 + ERLIN2 + + Erlin-2 + NET32 + + + gene with protein product + + + + Reactome + O94905 + + + ClinVar + ERLIN2 + + + Ensembl + ENSG00000147475 + + + Genatlas + ERLIN2 + + + HGNC + 1356 + + + OMIM + 611605 + + + SwissProt + O94905 + + + + + 8p11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 209967 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209967 + Episodic ataxia type 6 + + Disease + + + Disorder + + + + 19139306[PMID] + + solute carrier family 1 member 3 + SLC1A3 + + excitatory amino acid transporter 1 + glutamate/aspartate transporter 1 + GLAST-1 + GLAST1 + EA6 + EAAT1 + GLAST + + + gene with protein product + + + + ClinVar + SLC1A3 + + + Reactome + P43003 + + + SwissProt + P43003 + + + IUPHAR + 868 + + + Ensembl + ENSG00000079215 + + + Genatlas + SLC1A3 + + + HGNC + 10941 + + + OMIM + 600111 + + + + + 5p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 209908 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209908 + Isolated childhood apraxia of speech + + Disease + + + Disorder + + + + 11586359[PMID]_15877281[PMID] + + forkhead box P2 + FOXP2 + + CAG repeat protein 44 + CAGH44 + forkhead/winged-helix transcription factor + speech and language disorder 1 + trinucleotide repeat containing 10 + + + gene with protein product + + + + ClinVar + FOXP2 + + + Ensembl + ENSG00000128573 + + + Genatlas + FOXP2 + + + HGNC + 13875 + + + OMIM + 605317 + + + SwissProt + O15409 + + + Reactome + O15409 + + + + + 7q31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 209905 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209905 + Brain-lung-thyroid syndrome + + Disease + + + Disorder + + + + 24129101[PMID]_24555207[PMID] + + NK2 homeobox 1 + NKX2-1 + + TTF-1 + TTF1 + + + gene with protein product + + + + ClinVar + NKX2-1 + + + Reactome + P43699 + + + Ensembl + ENSG00000136352 + + + Genatlas + NKX2-1 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16909397[PMID]_18235024[PMID]_18400204[PMID] + + potassium voltage-gated channel modifier subfamily V member 2 + KCNV2 + + Kv8.2 + + + gene with protein product + + + + ClinVar + KCNV2 + + + Ensembl + ENSG00000168263 + + + Genatlas + KCNV2 + + + HGNC + 19698 + + + IUPHAR + 566 + + + OMIM + 607604 + + + Reactome + Q8TDN2 + + + SwissProt + Q8TDN2 + + + + + 9p24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 209916 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209916 + Extraskeletal myxoid chondrosarcoma + + Disease + + + Disorder + + + + 22581839[PMID] + + trafficking from ER to golgi regulator + TFG + + FLJ36137 + SPG57 + TF6 + + + gene with protein product + + + + ClinVar + TFG + + + Ensembl + ENSG00000114354 + + + Genatlas + TFG + + + HGNC + 11758 + + + OMIM + 602498 + + + Reactome + Q92734 + + + SwissProt + Q92734 + + + + + 3q12.2 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 18855877[PMID] + + EWS RNA binding 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 + Smith-Lemli-Opitz syndrome + + Malformation syndrome + + + Disorder + + + + 20301322[PMID] + + 7-dehydrocholesterol reductase + DHCR7 + + + + gene with protein product + + + + ClinVar + DHCR7 + + + Ensembl + ENSG00000172893 + + + Genatlas + DHCR7 + + + HGNC + 2860 + + + OMIM + 602858 + + + Reactome + Q9UBM7 + + + SwissProt + Q9UBM7 + + + + + 11q13.4 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 213504 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213504 + Adenocarcinoma of ovary + + Disease + + + Disorder + + + + 24302632[PMID] + + inhibin subunit beta A + INHBA + + + + gene with protein product + + + + ClinVar + INHBA + + + Ensembl + ENSG00000122641 + + + Genatlas + INHBA + + + HGNC + 6066 + + + OMIM + 147290 + + + Reactome + P08476 + + + SwissProt + P08476 + + + + + 7p14.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 175 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=175 + Cartilage-hair hypoplasia + + Disease + + + Disorder + + + + 22420014[PMID] + + RNA component of mitochondrial RNA processing endoribonuclease + RMRP + + NME1 + RMRPR + RRP2 + RNase MRP RNA + + + Non-coding RNA + + + + ClinVar + RMRP + + + Ensembl + ENSG00000277027 + + + Genatlas + RMRP + + + HGNC + 10031 + + + OMIM + 157660 + + + + + 9p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 42 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42 + Medium chain acyl-CoA dehydrogenase deficiency + + Disease + + + Disorder + + + + 20301597[PMID] + + acyl-CoA dehydrogenase medium chain + ACADM + + medium-chain acyl-CoA dehydrogenase + ACAD1 + MCAD + MCADH + + + gene with protein product + + + + ClinVar + ACADM + + + Ensembl + ENSG00000117054 + + + Genatlas + ACADM + + + HGNC + 89 + + + OMIM + 607008 + + + Reactome + P11310 + + + SwissProt + P11310 + + + + + 1p31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2066 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2066 + Gamma-aminobutyric acid transaminase deficiency + + Disease + + + Disorder + + + + 9746906[PMID]_10407778[PMID] + + 4-aminobutyrate aminotransferase + ABAT + + 4-aminobutyrate transaminase + GABAT + GABA-T + GABA transaminase + gamma-aminobutyrate aminotransferase + + + gene with protein product + + + + Ensembl + ENSG00000183044 + + + Genatlas + ABAT + + + HGNC + 23 + + + IUPHAR + 2464 + + + OMIM + 137150 + + + Reactome + P80404 + + + SwissProt + P80404 + + + ClinVar + ABAT + + + + + 16p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 300 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300 + Bifunctional enzyme deficiency + + Disease + + + Disorder + + + + 9915948[PMID]_24553428[PMID]_25967389[PMID] + + hydroxysteroid 17-beta dehydrogenase 4 + HSD17B4 + + 17-beta-HSD IV + 17-beta-hydroxysteroid dehydrogenase 4 + 17beta-estradiol dehydrogenase type IV + 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase + D-3-hydroxyacyl-CoA dehydratase + D-bifunctional protein, peroxisomal + DBP + MFE-2 + SDR8C1 + beta-hydroxyacyl dehydrogenase + beta-keto-reductase + peroxisomal multifunctional protein 2 + short chain dehydrogenase/reductase family 8C, member 1 + + + gene with protein product + + + + Ensembl + ENSG00000133835 + + + Genatlas + HSD17B4 + + + HGNC + 5213 + + + OMIM + 601860 + + + Reactome + P51659 + + + SwissProt + P51659 + + + ClinVar + HSD17B4 + + + + + 5q23.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 9501266[PMID] + + enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase + EHHADH + + + + gene with protein product + + + + Reactome + Q08426 + + + ClinVar + EHHADH + + + Ensembl + ENSG00000113790 + + + Genatlas + EHHADH + + + HGNC + 3247 + + + OMIM + 607037 + + + SwissProt + Q08426 + + + + + 3q27.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 213726 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213726 + Serous carcinoma of the corpus uteri + + Disease + + + Disorder + + + + 38443321[PMID] + + erb-b2 receptor tyrosine kinase 2 + ERBB2 + + HER2 + NEU + HER-2 + CD340 + neuro/glioblastoma derived oncogene homolog + human epidermal growth factor receptor 2 + metastatic lymph node gene 19 + c-ERB-2 + p185(erbB2) + MLN-19 + c-ERB2 + + + gene with protein product + + + + SwissProt + P04626 + + + ClinVar + ERBB2 + + + OMIM + 164870 + + + IUPHAR + 2019 + + + Ensembl + ENSG00000141736 + + + Genatlas + ERBB2 + + + HGNC + 3430 + + + + + 17q12 + 1 + + + + + Biomarker tested in + + + Assessed + + + + + + 213711 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213711 + Endometrial stromal sarcoma + + Disease + + + Disorder + + + + 25299308[PMID]_22223660[PMID] + + tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon + YWHAE + + 14-3-3 epsilon + FLJ45465 + + + gene with protein product + + + + ClinVar + YWHAE + + + Ensembl + ENSG00000108953 + + + Genatlas + YWHAE + + + HGNC + 12851 + + + OMIM + 605066 + + + Reactome + P62258 + + + SwissProt + P62258 + + + + + 17p13.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 25299308[PMID] + + JAZF zinc finger 1 + JAZF1 + + DKFZp761K2222 + TIP27 + ZNF802 + + + gene with protein product + + + + HGNC + 28917 + + + OMIM + 606246 + + + SwissProt + Q86VZ6 + + + Ensembl + ENSG00000153814 + + + Genatlas + JAZF1 + + + ClinVar + JAZF1 + + + + + 7p15.2-p15.1 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 25299308[PMID] + + SUZ12 polycomb repressive complex 2 subunit + SUZ12 + + JJAZ1 + KIAA0160 + CHET9 + + + gene with protein product + + + + ClinVar + SUZ12 + + + Ensembl + ENSG00000178691 + + + Genatlas + SUZ12 + + + HGNC + 17101 + + + OMIM + 606245 + + + Reactome + Q15022 + + + SwissProt + Q15022 + + + + + 17q11.2 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 25299308[PMID]_22223660[PMID] + + NUT family member 2A + NUTM2A + + + + gene with protein product + + + + ClinVar + FAM22A + + + Ensembl + ENSG00000184923 + + + Genatlas + FAM22A + + + HGNC + 23438 + + + SwissProt + Q8IVF1 + + + + + 10q23.2 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 25299308[PMID]_22223660[PMID] + + NUT family member 2B + NUTM2B + + bA119F19.1 + + + gene with protein product + + + + ClinVar + FAM22B + + + Ensembl + ENSG00000188199 + + + Genatlas + FAM22B + + + HGNC + 23445 + + + SwissProt + A6NNL0 + + + + + 10q22.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 3261 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3261 + Autoimmune lymphoproliferative syndrome + + Disease + + + Disorder + + + + 20301287[PMID]_10412980[PMID]_17999750[PMID] + + caspase 10 + CASP10 + + MCH4 + FAS-associated death domain protein interleukin-1B-converting enzyme 2 + FLICE-2 + + + gene with protein product + + + + Ensembl + ENSG00000003400 + + + Genatlas + CASP10 + + + HGNC + 1500 + + + IUPHAR + 1626 + + + OMIM + 601762 + + + Reactome + Q92851 + + + SwissProt + Q92851 + + + ClinVar + CASP10 + + + + + 2q33.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22983577[PMID]_21885602[PMID]_20301287[PMID] + + Fas cell surface death receptor + FAS + + APO-1 + CD95 + TNF receptor superfamily member 6 + + + gene with protein product + + + + ClinVar + FAS + + + IUPHAR + 1875 + + + Ensembl + ENSG00000026103 + + + Genatlas + FAS + + + HGNC + 11920 + + + OMIM + 134637 + + + Reactome + P25445 + + + SwissProt + P25445 + + + + + 10q23.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22983577[PMID]_21885602[PMID]_20301287[PMID] + + Fas cell surface death receptor + FAS + + APO-1 + CD95 + TNF receptor superfamily member 6 + + + gene with protein product + + + + ClinVar + FAS + + + IUPHAR + 1875 + + + Ensembl 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SwissProt + Q8IYB7 + + + ClinVar + DIS3L2 + + + + + 2q37.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 747 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=747 + Autoimmune pulmonary alveolar proteinosis + + Disease + + + Disorder + + + + 33589587[PMID] + + major histocompatibility complex, class II, DR beta 1 + HLA-DRB1 + + + + gene with protein product + + + + ClinVar + HLA-DRB1 + + + Ensembl + ENSG00000196126 + + + Genatlas + HLA-DRB1 + + + HGNC + 4948 + + + OMIM + 142857 + + + Reactome + P04229 + + + SwissProt + P01911 + + + + + 6p21.32 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 2953 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953 + Musculocontractural Ehlers-Danlos syndrome + + Disease + + + Disorder + + + + 22581468[PMID]_20533528[PMID] + + carbohydrate sulfotransferase 14 + CHST14 + + D4ST-1 + HD4ST + + + gene with protein product + + + + ClinVar + CHST14 + + + Ensembl + ENSG00000169105 + + + Genatlas + CHST14 + + + HGNC + 24464 + + + OMIM + 608429 + + + Reactome + Q8NCH0 + + + SwissProt + Q8NCH0 + + + + + 15q15.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 23704329[PMID] + + dermatan sulfate epimerase + DSE + + DSEPI + DS-Epi1 + + + gene with protein product + + + + Ensembl + ENSG00000111817 + + + Genatlas + DSE + + + HGNC + 21144 + + + OMIM + 605942 + + + Reactome + Q9UL01 + + + SwissProt + Q9UL01 + + + ClinVar + DSE + + + + + 6q22.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 782 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=782 + Axenfeld-Rieger syndrome + + Malformation syndrome + + + Disorder + + + + 19513095[PMID] + + paired like homeodomain 2 + PITX2 + + ARP1 + Brx1 + IGDS + Otlx2 + RS + + + gene with protein product + + + + Ensembl + ENSG00000164093 + + + Genatlas + PITX2 + + + HGNC + 9005 + + + OMIM + 601542 + + + SwissProt + Q99697 + + + ClinVar + PITX2 + + + Reactome + Q99697 + + + + + 4q25 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 19513095[PMID] + + paired like homeodomain 2 + PITX2 + + ARP1 + Brx1 + IGDS + Otlx2 + RS + + + gene with protein product + + + + Ensembl + ENSG00000164093 + + + Genatlas + PITX2 + + + HGNC + 9005 + + + OMIM + 601542 + + + SwissProt + Q99697 + + + ClinVar + PITX2 + + + Reactome + Q99697 + + + + + 4q25 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 19513095[PMID] + + forkhead box C1 + FOXC1 + + ARA + FREAC3 + IGDA + IHG1 + + + gene with protein product + + + + OMIM + 601090 + + + SwissProt + Q12948 + + + Ensembl + ENSG00000054598 + + + Genatlas + FOXC1 + + + HGNC + 3800 + + + ClinVar + FOXC1 + + + Reactome + Q12948 + + + + + 6p25.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 216718 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216718 + Isolated congenitally uncorrected transposition of the great arteries + + Clinical subtype + + + Subtype of disorder + + + + 23427188[PMID] + + Zic family zinc finger 3 + ZIC3 + + Zinc finger protein of the cerebellum 3 + HTX + ZNF203 + + + gene with protein product + + + + ClinVar + ZIC3 + + + Ensembl + ENSG00000156925 + + + Genatlas + ZIC3 + + + HGNC + 12874 + + + OMIM + 300265 + + + Reactome + O60481 + + + SwissProt + O60481 + + + + + Xq26.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + growth differentiation factor 1 + GDF1 + + + + gene with protein product + + + + ClinVar + GDF1 + + + SwissProt + P27539 + + + Ensembl + ENSG00000130283 + + + Genatlas + GDF1 + + + HGNC + 4214 + + + OMIM + 602880 + + + Reactome + P27539 + + + + + 19p13.11 + 1 + + + + + Major susceptibility factor in + + + Not yet assessed + + + + + + mediator complex subunit 13L + MED13L + + KIAA1025 + TRAP240L + + + gene with protein product + + + + ClinVar + MED13L + + + Ensembl + ENSG00000123066 + + + Genatlas + MED13L + + + HGNC + 22962 + + + OMIM + 608771 + + + Reactome + Q71F56 + + + SwissProt + Q71F56 + + + + + 12q24.21 + 1 + + + + + Major susceptibility factor in + + + Not yet assessed + + + + 11799476[PMID] + + cryptic, EGF-CFC family member 1 + CFC1 + + CRYPTIC + + + gene with protein product + + + + ClinVar + CFC1 + + + Ensembl + ENSG00000136698 + + + Genatlas + CFC1 + + + HGNC + 18292 + + + OMIM + 605194 + + + Reactome + P0CG37 + + + SwissProt + P0CG37 + + + + + 2q21.1 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 216729 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216729 + Congenitally uncorrected transposition of the great arteries with cardiac malformation + + Clinical subtype + + + Subtype of disorder + + + + 11799476[PMID] + + cryptic, EGF-CFC family member 1 + CFC1 + + CRYPTIC + + + gene with protein product + + + + ClinVar + CFC1 + + + Ensembl + ENSG00000136698 + + + Genatlas + CFC1 + + + HGNC + 18292 + + + OMIM + 605194 + + + Reactome + P0CG37 + + + SwissProt + P0CG37 + + + + + 2q21.1 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 882 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=882 + Tyrosinemia type 1 + + Disease + + + Disorder + + + + 20301688[PMID] + + fumarylacetoacetate hydrolase + FAH + + fumarylacetoacetase + + + gene with protein product + + + + Ensembl + ENSG00000103876 + + + Genatlas + FAH + + + HGNC + 3579 + + + OMIM + 613871 + + + Reactome + P16930 + + + SwissProt + P16930 + + + ClinVar + FAH + + + + + 15q25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 216796 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216796 + Osteogenesis imperfecta type 1 + + Clinical subtype + + + Subtype of disorder + + + + 30913006[PMID]_30948499[PMID] + + prolyl 4-hydroxylase subunit beta + P4HB + + DSI + GIT + P4Hbeta + PDI + PDIA1 + PO4HB + PROHB + collagen prolyl 4-hydroxylase beta + protein disulfide isomerase family A, member 1 + protein disulfide isomerase-associated 1 + + + gene with protein product + + + + ClinVar + P4HB + + + Ensembl + ENSG00000185624 + + + Genatlas + P4HB + + + HGNC + 8548 + + + OMIM + 176790 + + + Reactome + P07237 + + + SwissProt + P07237 + + + + + 17q25.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 25683121[PMID] + + SEC24 homolog D, COPII component + SEC24D + + KIAA0755 + + + gene with protein product + + + + Ensembl + ENSG00000150961 + + + Genatlas + SEC24D + + + HGNC + 10706 + + + OMIM + 607186 + + + Reactome + O94855 + + + SwissProt + O94855 + + + ClinVar + SEC24D + + + + + 4q26 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21438135[PMID]_20301472[PMID] + + collagen type I alpha 1 chain + COL1A1 + + OI4 + + + gene with protein product + + + + ClinVar + COL1A1 + + + Ensembl + ENSG00000108821 + + + Genatlas + COL1A1 + + + HGNC + 2197 + + + OMIM + 120150 + + + Reactome + P02452 + + + SwissProt + P02452 + + + + + 17q21.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21438135[PMID]_20301472[PMID] + + collagen type I alpha 2 chain + COL1A2 + + alpha 2(I)-collagen + alpha-2 collagen type I + collagen I, alpha-2 polypeptide + collagen of skin, tendon and bone, alpha-2 chain + type I procollagen + + + gene with protein product + + + + ClinVar + COL1A2 + + + OMIM + 120160 + + + Reactome + P08123 + + + SwissProt + P08123 + + + Ensembl + ENSG00000164692 + + + Genatlas + COL1A2 + + + HGNC + 2198 + + + + + 7q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 27380894[PMID] + + membrane bound transcription factor peptidase, site 2 + MBTPS2 + + sterol regulatory element-binding proteins intramembrane protease + S2P + site-2 protease + + + gene with protein product + + + + Ensembl + ENSG00000012174 + + + Genatlas + MBTPS2 + + + HGNC + 15455 + + + OMIM + 300294 + + + Reactome + O43462 + + + SwissProt + O43462 + + + ClinVar + MBTPS2 + + + + + Xp22.12 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 216804 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216804 + Osteogenesis imperfecta type 2 + + Clinical subtype + + + Subtype of disorder + + + + 21438135[PMID]_20301472[PMID] + + collagen type I alpha 1 chain + COL1A1 + + OI4 + + + gene with protein product + + + + ClinVar + COL1A1 + + + Ensembl + ENSG00000108821 + + + Genatlas + COL1A1 + + + HGNC + 2197 + + + OMIM + 120150 + + + Reactome + P02452 + + + SwissProt + P02452 + + + + + 17q21.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21438135[PMID]_20301472[PMID] + + collagen type I alpha 2 chain + COL1A2 + + alpha 2(I)-collagen + alpha-2 collagen type I + collagen I, alpha-2 polypeptide + collagen of skin, tendon and bone, alpha-2 chain + type I procollagen + + + gene with 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866 + Classic pantothenate kinase-associated neurodegeneration + + Clinical subtype + + + Subtype of disorder + + + + + + pantothenate kinase 2 + PANK2 + + FLJ11729 + HARP + HSS + Hallervorden-Spatz syndrome + PKAN + pantothenate kinase-associated neurodegeneration + + + gene with protein product + + + + OMIM + 606157 + + + Reactome + Q9BZ23 + + + SwissProt + Q9BZ23 + + + Ensembl + ENSG00000125779 + + + Genatlas + PANK2 + + + HGNC + 15894 + + + ClinVar + PANK2 + + + + + 20p13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 216873 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873 + Atypical pantothenate kinase-associated neurodegeneration + + Clinical subtype + + + Subtype of disorder + + + + + + pantothenate kinase 2 + PANK2 + + FLJ11729 + HARP + HSS + Hallervorden-Spatz syndrome + PKAN + pantothenate kinase-associated neurodegeneration + + + gene with protein product + 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3051 + + + + + 18q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301473[PMID] + + NPC intracellular cholesterol transporter 2 + NPC2 + + EDDM1 + HE1 + NP-C2 + epididymal protein 1 + + + gene with protein product + + + + Ensembl + ENSG00000119655 + + + Genatlas + NPC2 + + + HGNC + 14537 + + + Reactome + P61916 + + + ClinVar + NPC2 + + + OMIM + 601015 + + + SwissProt + P61916 + + + + + 14q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 217012 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217012 + Spinocerebellar ataxia type 31 + + Disease + + + Disorder + + + + 17611710[PMID]_19878914[PMID]_22992774[PMID]_20301317[PMID] + + brain expressed associated with NEDD4 1 + BEAN1 + + + + gene with protein product + + + + Ensembl + ENSG00000166546 + + + Genatlas + BEAN1 + + + HGNC + 24160 + + + OMIM + 612051 + + + SwissProt + Q3B7T3 + + + ClinVar + BEAN1 + + + + + 16q21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2088 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2088 + Fanconi-Bickel syndrome + + Disease + + + Disorder + + + + 21327337[PMID]_22865906[PMID] + + solute carrier family 2 member 2 + SLC2A2 + + GLUT-2 + + + gene with protein product + + + + IUPHAR + 876 + + + Ensembl + ENSG00000163581 + + + Genatlas + SLC2A2 + + + HGNC + 11006 + + + OMIM + 138160 + + + Reactome + P11168 + + + SwissProt + P11168 + + + ClinVar + SLC2A2 + + + + + 3q26.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 217266 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217266 + BNAR syndrome + + Malformation syndrome + + + Disorder + + + + 19732862[PMID]_23401257[PMID] + + FRAS1 related extracellular matrix 1 + FREM1 + + C9orf143 + C9orf145 + DKFZp686M16108 + FLJ25461 + TILRR + + + gene with protein product + + + + Ensembl + ENSG00000164946 + + + Genatlas + FREM1 + + + HGNC + 23399 + + + OMIM + 608944 + + + SwissProt + Q5H8C1 + + + ClinVar + FREM1 + + + + + 9p22.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 179 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179 + Birdshot chorioretinopathy + + Disease + + + Disorder + + + + 24474930[PMID] + + major histocompatibility complex, class I, A + HLA-A + + + + gene with protein product + + + + HGNC + 4931 + + + OMIM + 142800 + + + SwissProt + P04439 + + + Ensembl + ENSG00000206503 + + + Genatlas + HLA-A + + + Reactome + P04439 + + + ClinVar + HLA-A + + + + + 6p22.1 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 2584 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2584 + Classic mycosis fungoides + + Disease + + + Disorder + + + + 26258847[PMID] + + cytotoxic T-lymphocyte associated protein 4 + CTLA4 + + CD + CD152 + GSE + gluten-sensitive enteropathy + celiac disease + CTLA-4 + + + gene with protein product + + + + IUPHAR + 2743 + + 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+ + + Part of a fusion gene in + + + Assessed + + + + + + 217093 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093 + Mucopolysaccharidosis type 2, attenuated form + + Clinical subtype + + + Subtype of disorder + + + + + + iduronate 2-sulfatase + IDS + + Hunter syndrome + ID2S + + + gene with protein product + + + + ClinVar + IDS + + + Ensembl + ENSG00000010404 + + + Genatlas + IDS + + + HGNC + 5389 + + + OMIM + 300823 + + + Reactome + P22304 + + + SwissProt + P22304 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 3162 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3162 + Sézary syndrome + + Disease + + + Disorder + + + + 26258847[PMID] + + cytotoxic T-lymphocyte associated protein 4 + CTLA4 + + CD + CD152 + GSE + gluten-sensitive enteropathy + celiac disease + CTLA-4 + + + gene with protein product + + + + IUPHAR + 2743 + + + ClinVar + CTLA4 + + + Ensembl + ENSG00000163599 + + + Genatlas + CTLA4 + + + HGNC + 2505 + + + OMIM + 123890 + + + Reactome + P16410 + + + SwissProt + P16410 + + + + + 2q33.2 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 26258847[PMID] + + TNF receptor superfamily member 1B + TNFRSF1B + + CD120b + TNF-R-II + TNF-R75 + TNFBR + TNFR80 + p75 + + + gene with protein product + + + + SwissProt + P20333 + + + Ensembl + ENSG00000028137 + + + Genatlas + TNFRSF1B + + + HGNC + 11917 + + + ClinVar + TNFRSF1B + + + IUPHAR + 1871 + + + OMIM + 191191 + + + Reactome + P20333 + + + + + 1p36.22 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 26258847[PMID] + + CD28 molecule + CD28 + + T-cell-specific surface glycoprotein + + + gene with protein product + + + + Ensembl + ENSG00000178562 + + + Genatlas + CD28 + + + HGNC + 1653 + + + IUPHAR + 2863 + + + OMIM + 186760 + + + Reactome + P10747 + + + SwissProt + P10747 + + + ClinVar + CD28 + + + + + 2q33.2 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 217085 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085 + Mucopolysaccharidosis type 2, severe form + + Clinical subtype + + + Subtype of disorder + + + + + + iduronate 2-sulfatase + IDS + + Hunter syndrome + ID2S + + + gene with protein product + + + + ClinVar + IDS + + + Ensembl + ENSG00000010404 + + + Genatlas + IDS + + + HGNC + 5389 + + + OMIM + 300823 + + + Reactome + P22304 + + + SwissProt + P22304 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1451 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1451 + CINCA syndrome + + Disease + + + Disorder + + + + 15801036[PMID]_12032915[PMID] + + NLR family pyrin domain containing 3 + NLRP3 + + AGTAVPRL + AII + AVP + CLR1.1 + Cryopyrin + FCAS + FCU + MWS + NALP3 + PYPAF1 + nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3 + + + gene with protein product + + + + Ensembl + ENSG00000162711 + + + Genatlas + NLRP3 + + + HGNC + 16400 + + + OMIM + 606416 + + + Reactome + Q96P20 + + + SwissProt + Q96P20 + + + IUPHAR + 1770 + + + ClinVar + NLRP3 + + + + + 1q44 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 217059 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217059 + Isolated nail clubbing + + Morphological anomaly + + + Disorder + + + + 18805827[PMID] + + 15-hydroxyprostaglandin dehydrogenase + HPGD + + SDR36C1 + 15-hydroxyprostaglandin dehydrogenase (NAD(+)) + short chain dehydrogenase/reductase family 36C, member 1 + + + gene with protein product + + + + OMIM + 601688 + + + Reactome + P15428 + + + SwissProt + P15428 + + + ClinVar + HPGD + + + Ensembl + ENSG00000164120 + + + Genatlas + HPGD + + + HGNC + 5154 + + + IUPHAR + 1384 + + + + + 4q34.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 217055 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217055 + Autosomal recessive intermediate Charcot-Marie-Tooth disease type A + + Disease + + + Disorder + + + + 12566285[PMID]_12499475[PMID] + + ganglioside induced differentiation associated protein 1 + GDAP1 + + CMT2K + CMT4 + + + gene with protein product + + + + ClinVar + GDAP1 + + + Ensembl + ENSG00000104381 + + + Genatlas + GDAP1 + + + HGNC + 15968 + + + OMIM + 606598 + + + SwissProt + Q8TB36 + + + + + 8q21.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 217335 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217335 + RIN2 syndrome + + Malformation syndrome + + + Disorder + + + + 19631308[PMID]_24449201[PMID] + + Ras and Rab interactor 2 + RIN2 + + RASSF4 + + + gene with protein product + + + + Ensembl + ENSG00000132669 + + + Genatlas + RIN2 + + + HGNC + 18750 + + + OMIM + 610222 + + + SwissProt + Q8WYP3 + + + Reactome + Q8WYP3 + + + ClinVar + RIN2 + + + + + 20p11.23 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 2745 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745 + Opitz GBBB syndrome + + Malformation syndrome + + + Disorder + + + + 15558842[PMID] + + midline 1 + MID1 + + FXY + OS + Opitz/BBB syndrome + RNF59 + TRIM18 + + + gene with protein product + + + + Ensembl + ENSG00000101871 + + + Genatlas + MID1 + + + HGNC + 7095 + + + OMIM + 300552 + + + Reactome + O15344 + + + SwissProt + O15344 + + + ClinVar + MID1 + + + + + Xp22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 217330 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217330 + REN-related autosomal dominant tubulointerstitial kidney disease + + Clinical subtype + + + Subtype of disorder + + + + 21473025[PMID] + + renin + REN + + + + gene with protein product + + + + Ensembl + ENSG00000143839 + + + Genatlas + REN + + + HGNC + 9958 + + + IUPHAR + 2413 + + + OMIM + 179820 + + + Reactome + P00797 + + + SwissProt + P00797 + + + ClinVar + REN + + + + + 1q32.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1171 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1171 + Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome + + Disease + + + Disorder + + + + 24468074[PMID] + + ATPase Na+/K+ transporting subunit alpha 3 + ATP1A3 + + sodium pump subunit alpha-3 + sodium-potassium ATPase catalytic subunit alpha-3 + sodium/potassium-transporting ATPase subunit alpha-3 + + + gene with protein product + + + + ClinVar + ATP1A3 + + + IUPHAR + 835 + + + Ensembl + ENSG00000105409 + + + Genatlas + ATP1A3 + + + HGNC + 801 + + + OMIM + 182350 + + + Reactome + P13637 + + + SwissProt + P13637 + + + + + 19q13.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 217566 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217566 + Chronic respiratory distress with surfactant metabolism deficiency + + Disease + + + Disorder + + + + 22018035[PMID]_20403820[PMID] + + surfactant protein C + SFTPC + + BRICD6 + BRICHOS domain containing 6 + PSP-C + SMDP2 + SP-C + + + gene with protein product + + + + ClinVar + SFTPC + + + Ensembl + ENSG00000168484 + + + Genatlas + SFTPC + + + HGNC + 10802 + + + OMIM + 178620 + + + Reactome + P11686 + + + SwissProt + P11686 + + + + + 8p21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 217563 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217563 + Neonatal acute respiratory distress syndrome + + Disease + + + Disorder + + + + 23330012[PMID] + + surfactant protein B + SFTPB + + SP-B + + + gene with protein product + + + + ClinVar + SFTPB + + + Ensembl + ENSG00000168878 + + + Genatlas + SFTPB + + + HGNC + 10801 + + + OMIM + 178640 + + + Reactome + P07988 + + + SwissProt + P07988 + + + + + 2p11.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 33110422[PMID]_15044640[PMID] + + ATP binding cassette subfamily A member 3 + ABCA3 + + ABC-C + EST111653 + LBM180 + + + gene with protein product + + + + ClinVar + ABCA3 + + + IUPHAR + 758 + + + Ensembl + ENSG00000167972 + + + Genatlas + ABCA3 + + + HGNC + 33 + + + OMIM + 601615 + + + Reactome + Q99758 + + + SwissProt + Q99758 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 217407 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217407 + Hereditary hypotrichosis with recurrent skin vesicles + + Disease + + + Disorder + + + + 19765682[PMID] + + desmocollin 3 + DSC3 + + CDHF3 + DSC + DSC1 + DSC2 + + + gene with protein product + + + + Ensembl + ENSG00000134762 + + + Genatlas + DSC3 + + + HGNC + 3037 + + + OMIM + 600271 + + + SwissProt + Q14574 + + + Reactome + Q14574 + + + ClinVar + DSC3 + + + + + 18q12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 217467 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217467 + Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency + + Disease + + + Disorder + + + + 9414276[PMID] + + histidine rich glycoprotein + HRG + + HPRG + HRGP + histidine-proline rich glycoprotein + thrombophilia due to elevated HRG + + + gene with protein product + + + + Ensembl + ENSG00000113905 + + + Genatlas + HRG + + + HGNC + 5181 + + + OMIM + 142640 + + + Reactome + P04196 + + + SwissProt + P04196 + + + ClinVar + HRG + + + + + 3q27.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 217390 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217390 + Combined immunodeficiency due to DOCK8 deficiency + + Disease + + + Disorder + + + + + + dedicator of cytokinesis 8 + DOCK8 + + FLJ00026 + FLJ00152 + FLJ00346 + ZIR8 + + + gene with protein product + + + + Ensembl + ENSG00000107099 + + + Genatlas + DOCK8 + + + HGNC + 19191 + + + OMIM + 611432 + + + Reactome + Q8NF50 + + + SwissProt + Q8NF50 + + + ClinVar + DOCK8 + + + + + 9p24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 217385 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217385 + 17p13.3 microduplication syndrome + + Malformation syndrome + + + Disorder + + + + 21195811[PMID] + + platelet activating factor acetylhydrolase 1b regulatory subunit 1 + PAFAH1B1 + + LIS1 + PAFAH + lissencephaly-1 + NudF + + + gene with protein product + + + + Ensembl + ENSG00000007168 + + + Genatlas + PAFAH1B1 + + + HGNC + 8574 + + + OMIM + 601545 + + + Reactome + P43034 + + + SwissProt + P43034 + + + ClinVar + PAFAH1B1 + + + + + 17p13.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 21195811[PMID] + + tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon + YWHAE + + 14-3-3 epsilon + FLJ45465 + + + gene with protein product + + + + ClinVar + YWHAE + + + Ensembl + ENSG00000108953 + + + Genatlas + YWHAE + + + HGNC + 12851 + + + OMIM + 605066 + + + Reactome + P62258 + + + SwissProt + P62258 + + + + + 17p13.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 217396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217396 + Progressive polyneuropathy with bilateral striatal necrosis + + Disease + + + Disorder + + + + 19798730[PMID] + + solute carrier family 25 member 19 + SLC25A19 + + DNC + MUP1 + TPC + Mitochondrial thiamine pyrophosphate carrier + mitochondrial uncoupling protein 1 + Deoxynucleotide carrier + + + gene with protein product + + + + Genatlas + SLC25A19 + + + HGNC + 14409 + + + OMIM + 606521 + + + SwissProt + Q9HC21 + + + ClinVar + SLC25A19 + + + Ensembl + ENSG00000125454 + + + IUPHAR + 1073 + + + Reactome + Q9HC21 + + + + + 17q25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 217371 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217371 + Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins + + Disease + + + Disorder + + + + 19732863[PMID] + + tRNA mitochondrial 2-thiouridylase + TRMU + + FLJ10140 + MTO2 + MTU1 + mitochondrial tRNA-specific 2-thiouridylase 1 + + + gene with protein product + + + + ClinVar + TRMU + + + Ensembl + ENSG00000100416 + + + Genatlas + TRMU + + + HGNC + 25481 + + + OMIM + 610230 + + + Reactome + O75648 + + + SwissProt + O75648 + + + + + 22q13.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 217382 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217382 + Neurodegenerative syndrome due to cerebral folate transport deficiency + + Disease + + + Disorder + + + + 19732866[PMID] + + folate receptor 1 + FOLR1 + + FRa + folate receptor alpha + + + gene with protein product + + + + Reactome + P15328 + + + SwissProt + P15328 + + + Ensembl + ENSG00000110195 + + + Genatlas + FOLR1 + + + HGNC + 3791 + + + OMIM + 136430 + + + IUPHAR + 3212 + + + ClinVar + FOLR1 + + + + + 11q13.4 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 217377 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217377 + Microduplication Xp11.22p11.23 syndrome + + Malformation syndrome + + + Disorder + + + + 26059843[PMID] + + IQ motif and Sec7 domain ArfGEF 2 + IQSEC2 + + brefeldin A resistant Arf-guanine nucleotide exchange factor 1 + KIAA0522 + BRAG1 + IQ-ArfGEF + + + gene with protein product + + + + Ensembl + ENSG00000124313 + + + Genatlas + IQSEC2 + + + HGNC + 29059 + + + OMIM + 300522 + + + SwissProt + Q5JU85 + + + ClinVar + IQSEC2 + + + + + Xp11.22 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 217622 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217622 + Sensorineural deafness with dilated cardiomyopathy + + Disease + + + Disorder + + + + 15735644[PMID] + + EYA transcriptional coactivator and phosphatase 4 + EYA4 + + + + gene with protein product + + + + ClinVar + EYA4 + + + Ensembl + ENSG00000112319 + + + Genatlas + EYA4 + + + HGNC + 3522 + + + OMIM 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Assessed + + + + + + 159 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=159 + Carnitine-acylcarnitine translocase deficiency + + Disease + + + Disorder + + + + + + solute carrier family 25 member 20 + SLC25A20 + + CAC + carnitine-acylcarnitine carrier + carnitine/acylcarnitine translocase + Mitochondrial carnitine/acylcarnitine carrier protein + + + gene with protein product + + + + IUPHAR + 1076 + + + Ensembl + ENSG00000178537 + + + Genatlas + SLC25A20 + + + HGNC + 1421 + + + OMIM + 613698 + + + Reactome + O43772 + + + SwissProt + O43772 + + + ClinVar + SLC25A20 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79 + Congenital alpha2-antiplasmin deficiency + + Disease + + + Disorder + + + + 17961166[PMID]_11472338[PMID] + + serpin family F member 2 + SERPINF2 + + A2AP + AAP + ALPHA-2-PI + API + alpha-2-antiplasmin + alpha-2-plasmin inhibitor + alpha2AP + + 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Clinical subtype + + + Subtype of disorder + + + + + + major histocompatibility complex, class II, DR beta 1 + HLA-DRB1 + + + + gene with protein product + + + + ClinVar + HLA-DRB1 + + + Ensembl + ENSG00000196126 + + + Genatlas + HLA-DRB1 + + + HGNC + 4948 + + + OMIM + 142857 + + + Reactome + P04229 + + + SwissProt + P01911 + + + + + 6p21.32 + 1 + + + + + Major susceptibility factor in + + + Not yet assessed + + + + + + 220386 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220386 + Semilobar holoprosencephaly + + Clinical subtype + + + Subtype of disorder + + + + 31334757[PMID] + + STAG2 cohesin complex component + STAG2 + + sister chromatid cohesion 3 homolog (S. cerevisiae) B + SA2 stromalin + SA2 + SCC3B + SA-2 + Cohesin subunit SA-2 + + + gene with protein product + + + + Genatlas + STAG2 + + + OMIM + 300826 + + + SwissProt + Q8N3U4 + + + ClinVar + STAG2 + + + Ensembl + ENSG00000101972 + + + Reactome + Q8N3U4 + + + HGNC + 11355 + + + + + Xq25 + 1 + + + + + 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Candidate gene tested in + + + Not yet assessed + + + + 22006311[PMID]_14684699[PMID] + + MRE11 double strand break repair nuclease + MRE11 + + AT-like disease + ATLD + + + gene with protein product + + + + ClinVar + MRE11A + + + Ensembl + ENSG00000020922 + + + Genatlas + MRE11A + + + HGNC + 7230 + + + OMIM + 600814 + + + Reactome + P49959 + + + SwissProt + P49959 + + + + + 11q21 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 22006311[PMID]_14684699[PMID] + + nibrin + NBN + + AT-V1 + AT-V2 + ATV + + + gene with protein product + + + + Ensembl + ENSG00000104320 + + + Genatlas + NBN + + + HGNC + 7652 + + + OMIM + 602667 + + + Reactome + O60934 + + + SwissProt + O60934 + + + ClinVar + NBN + + + + + 8q21.3 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 23779253[PMID] + + partner and localizer of BRCA2 + PALB2 + + Fanconi anemia, complementation group N + FANCN + FLJ21816 + + + gene with protein product + + + + ClinVar + PALB2 + + + Ensembl + ENSG00000083093 + + + Genatlas + PALB2 + + + HGNC + 26144 + + + OMIM + 610355 + + + Reactome + Q86YC2 + + + SwissProt + Q86YC2 + + + + + 16p12.2 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 15342711[PMID] + + BRCA1 associated RING domain 1 + BARD1 + + + + gene with protein product + + + + ClinVar + BARD1 + + + Ensembl + ENSG00000138376 + + + Genatlas + BARD1 + + + HGNC + 952 + + + OMIM + 601593 + + + Reactome + Q99728 + + + SwissProt + Q99728 + + + + + 2q35 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 20400964[PMID]_21990120[PMID] + + RAD51 paralog C + RAD51C + + FANCO + RAD51L2 + + + gene with protein product + + + + ClinVar + RAD51C + + + Ensembl + ENSG00000108384 + + + Genatlas + RAD51C + + + HGNC + 9820 + + + OMIM + 602774 + + + Reactome + O43502 + + + SwissProt + O43502 + + + + + 17q22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22006311[PMID]_14684699[PMID] + + RAD50 double strand break repair 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ENSG00000284194 + + + OMIM + 604272 + + + Reactome + O43819 + + + SwissProt + O43819 + + + + + 22q13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 2175025[PMID]_21412973[PMID] + + cytochrome c oxidase assembly factor COX15 + COX15 + + CEMCOX2 + + + gene with protein product + + + + ClinVar + COX15 + + + Ensembl + ENSG00000014919 + + + Genatlas + COX15 + + + HGNC + 2263 + + + OMIM + 603646 + + + Reactome + Q7KZN9 + + + SwissProt + Q7KZN9 + + + + + 10q24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21457908[PMID] + + cytochrome c oxidase assembly factor 5 + COA5 + + FLJ27524 + MGC52110 + Pet191 + + + gene with protein product + + + + ClinVar + COA5 + + + Ensembl + ENSG00000183513 + + + Genatlas + COA5 + + + HGNC + 33848 + + + OMIM + 613920 + + + SwissProt + Q86WW8 + + + + + 2q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24549041[PMID]_25339201[PMID] + + cytochrome c oxidase assembly 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cytochrome b + MT-CYB + + COB + CYTB + UQCR3 + + + gene with protein product + + + + ClinVar + MT-CYB + + + Ensembl + ENSG00000198727 + + + Genatlas + MT-CYB + + + HGNC + 7427 + + + OMIM + 516020 + + + Reactome + P00156 + + + SwissProt + P00156 + + + + + mitochondria + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 18439546[PMID]_25914718[PMID] + + ubiquinol-cytochrome c reductase complex III subunit VII + UQCRQ + + QCR8 + QP-C + UQCR7 + complex III subunit 8 + ubiquinol-cytochrome c reductase, complex III subunit VII + + + gene with protein product + + + + ClinVar + UQCRQ + + + Ensembl + ENSG00000164405 + + + Genatlas + UQCRQ + + + HGNC + 29594 + + + OMIM + 612080 + + + Reactome + O14949 + + + SwissProt + O14949 + + + + + 5q31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 12709789[PMID]_25914718[PMID] + + ubiquinol-cytochrome c reductase binding protein + UQCRB + + QCR7 + QP-C + UQCR6 + cytochrome b-c1 complex subunit 7 + ubiquinol-cytochrome c reductase, complex III subunit VI + + + gene with protein product + + + + ClinVar + UQCRB + + + Ensembl + ENSG00000156467 + + + Genatlas + UQCRB + + + HGNC + 12582 + + + OMIM + 191330 + + + Reactome + P14927 + + + SwissProt + P14927 + + + + + 8q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21278747[PMID]_25914718[PMID] + + tetratricopeptide repeat domain 19 + TTC19 + + Tetratricopeptide repeat protein 19, mitochondrial + FLJ20343 + MGC19520 + + + gene with protein product + + + + ClinVar + TTC19 + + + Ensembl + ENSG00000011295 + + + Genatlas + TTC19 + + + HGNC + 26006 + + + OMIM + 613814 + + + SwissProt + Q6DKK2 + + + + + 17p12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23281071[PMID]_25914718[PMID] + + ubiquinol-cytochrome c reductase core protein 2 + UQCRC2 + + QCR2 + UQCR2 + + + gene with protein product + + + + Ensembl + ENSG00000140740 + + + Genatlas + UQCRC2 + + + HGNC + 12586 + + + OMIM 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bA6B20.2 + cytochrome B protein synthesis 6 homolog (S. cerevisiae) + + + gene with protein product + + + + Reactome + Q9BRT2 + + + ClinVar + C6orf125 + + + Ensembl + ENSG00000137288 + + + Genatlas + C6orf125 + + + HGNC + 21237 + + + OMIM + 614461 + + + SwissProt + Q9BRT2 + + + + + 6p21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 25008109[PMID]_25914718[PMID] + + ubiquinol-cytochrome c reductase complex assembly factor 3 + UQCC3 + + UNQ655 + + + gene with protein product + + + + Ensembl + ENSG00000204922 + + + HGNC + 34399 + + + OMIM + 616097 + + + SwissProt + Q6UW78 + + + + + 11q12.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 32001716[PMID] + + ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 + UQCRFS1 + + RISP + UQCR5 + RIP1 + RIS1 + cytochrome b-c1 complex subunit 5 + + + gene with protein product + + + + HGNC + 12587 + + + Ensembl + ENSG00000169021 + + + SwissProt + P47985 + + + ClinVar + UQCRFS1 + + + OMIM + 191327 + + + Reactome + P47985 + + + Genatlas + UQCRFS1 + + + + + 19q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 851 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=851 + Paris-Trousseau thrombocytopenia + + Disease + + + Disorder + + + + 7703487[PMID]_22775407[PMID] + + Fli-1 proto-oncogene, ETS transcription factor + FLI1 + + EWSR2 + SIC-1 + FLI-1 + + + gene with protein product + + + + Reactome + Q01543 + + + ClinVar + FLI1 + + + Ensembl + ENSG00000151702 + + + Genatlas + FLI1 + + + HGNC + 3749 + + + OMIM + 193067 + + + SwissProt + Q01543 + + + + + 11q24.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 221043 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221043 + Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome + + Disease + + + Disorder + + + + 24268661[PMID] + + FAM111 trypsin like peptidase B + FAM111B + + CANP + + + gene with protein product + + + + Ensembl + ENSG00000189057 + + + Genatlas + FAM111B + + + HGNC + 24200 + + + OMIM + 615584 + + + SwissProt + Q6SJ93 + + + Reactome + Q6SJ93 + + + ClinVar + FAM111B + + + + + 11q12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 221046 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221046 + Poikiloderma with neutropenia + + Disease + + + Disorder + + + + 20004881[PMID]_20503306[PMID] + + U6 snRNA biogenesis phosphodiesterase 1 + USB1 + + FLJ13154 + HVSL motif containing 1 + HVSL1 + Mpn1 + U six biogenesis 1 + mutated in poikiloderma with neutropenia protein 1 + poikiloderma with neutropenia + + + gene with protein product + + + + Ensembl + ENSG00000103005 + + + Genatlas + HVSL1 + + + HGNC + 25792 + + + OMIM + 613276 + + + SwissProt + Q9BQ65 + + + ClinVar + HVSL1 + + + + + 16q21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 745 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=745 + Severe hereditary thrombophilia due to congenital protein C deficiency + + Disease + + + Disorder + + + + 23521084[PMID] + + protein C, inactivator of coagulation factors Va and VIIIa + PROC + + prepro-protein C + coagulation factor XIV + + + gene with protein product + + + + ClinVar + PROC + + + Ensembl + ENSG00000115718 + + + Genatlas + PROC + + + HGNC + 9451 + + + IUPHAR + 2396 + + + OMIM + 612283 + + + Reactome + P04070 + + + SwissProt + P04070 + + + + + 2q14.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 221061 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221061 + Familial cerebral cavernous malformation + + Malformation syndrome + + + Disorder + + + + 20301470[PMID] + + CCM2 scaffold protein + CCM2 + + MGC4607 + OSM + malcavernin + osmosensing scaffold for MEKK3 + + + gene with protein product + + + + Ensembl + ENSG00000136280 + + + Genatlas + CCM2 + + + HGNC + 21708 + + + OMIM + 607929 + + + SwissProt + Q9BSQ5 + + + ClinVar + CCM2 + + + + + 7p13 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 20301470[PMID] + + KRIT1 ankyrin repeat containing + KRIT1 + + CAM + Krev interaction trapped 1 + + + gene with protein product + + + + ClinVar + KRIT1 + + + Genatlas + KRIT1 + + + HGNC + 1573 + + + OMIM + 604214 + + + SwissProt + O00522 + + + Ensembl + ENSG00000001631 + + + + + 7q21.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 20301470[PMID] + + programmed cell death 10 + PDCD10 + + TFAR15 + + + gene with protein product + + + + Reactome + Q9BUL8 + + + Ensembl + ENSG00000114209 + + + Genatlas + PDCD10 + + + HGNC + 8761 + + + OMIM + 609118 + + + SwissProt + Q9BUL8 + + + ClinVar + PDCD10 + + + + + 3q26.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 34496175[PMID] + + phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha + PIK3CA + + PI3K + + + gene with protein product + + + + Reactome + P42336 + + + SwissProt + P42336 + + + Ensembl + ENSG00000121879 + + + Genatlas + PIK3CA + + + HGNC + 8975 + + + IUPHAR + 2153 + + + OMIM + 171834 + + + ClinVar + PIK3CA + + + + + 3q26.32 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 849 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=849 + Glanzmann thrombasthenia + + Disease + + + Disorder + + + + 21917754[PMID] + + integrin subunit alpha 2b + ITGA2B + + CD41 + CD41B + PPP1R93 + platelet glycoprotein IIb of IIb/IIIa complex + protein phosphatase 1, regulatory subunit 93 + GPIIb + Integrin alpha-IIb + + + gene with protein product + + + + ClinVar + ITGA2B + + + Ensembl + ENSG00000005961 + + + Genatlas + ITGA2B + + + HGNC + 6138 + + + OMIM + 607759 + + + Reactome + P08514 + + + SwissProt + P08514 + + + IUPHAR + 2441 + + + + + 17q21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21917754[PMID] + + integrin subunit beta 3 + ITGB3 + + CD61 + GPIIIa + antigen CD61 + platelet glycoprotein IIIa + + + gene with protein product + + + + Ensembl + ENSG00000259207 + + + Genatlas + ITGB3 + + + HGNC + 6156 + + + OMIM + 173470 + + + Reactome + P05106 + + + SwissProt + P05106 + + + ClinVar + ITGB3 + + + IUPHAR + 2457 + + + + + 17q21.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 225154 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225154 + Familial infantile bilateral striatal necrosis + + Disease + + + Disorder + + + + 36333996[PMID] + + nucleoporin 54 + NUP54 + + + + gene with protein product + + + + HGNC + 17359 + + + Ensembl + ENSG00000138750 + + + OMIM + 607607 + + + SwissProt + Q7Z3B4 + + + + + 4q21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24262145[PMID] + + adenosine deaminase RNA specific + ADAR + + ADAR1 + DRADA + Double-stranded RNA-specific adenosine deaminase + + + gene with protein product + + + + Ensembl + ENSG00000160710 + + + Genatlas + ADAR + + + HGNC + 225 + + + OMIM + 146920 + + + Reactome + P55265 + + + SwissProt + P55265 + + + ClinVar + ADAR + + + + + 1q21.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + mitochondrially encoded ATP synthase membrane subunit 6 + MT-ATP6 + + ATP6 + ATPase-6 + Su6m + mitochondrially encoded ATP synthase membrane subunit a + + + gene with protein product + + + + ClinVar + MT-ATP6 + + + Ensembl + ENSG00000198899 + + + Genatlas + MT-ATP6 + + + HGNC + 7414 + + + OMIM + 516060 + + + Reactome + P00846 + + + SwissProt + P00846 + + + IUPHAR + 801 + + + + + mitochondria + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + nucleoporin 62 + NUP62 + + DKFZp547L134 + FLJ20822 + FLJ43869 + IBSN + MGC841 + SNDI + nuclear pore glycoprotein p62 + p62 + + + gene with protein product + + + + Ensembl + ENSG00000213024 + + + Genatlas + NUP62 + + + HGNC + 8066 + + + OMIM + 605815 + + + Reactome + P37198 + + + SwissProt + P37198 + + + ClinVar + NUP62 + + + + + 19q13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 225123 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225123 + TFR2-related hemochromatosis + + Disease + + + Disorder + + + + 26029709[PMID] + + transferrin receptor 2 + TFR2 + + HFE3 + TFRC2 + + + gene with protein product + + + + Reactome + Q9UP52 + + + ClinVar + TFR2 + + + Genatlas + TFR2 + + + HGNC + 11762 + + + OMIM + 604720 + + + SwissProt + Q9UP52 + + + Ensembl + ENSG00000106327 + + + + + 7q22.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 221126 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221126 + Fowler vasculopathy + + Malformation syndrome + + + Disorder + + + + 20206334[PMID] + + FLVCR choline and putative heme transporter 2 + FLVCR2 + + FLJ20371 + MFSD7C + CCT + SLC49A2 + + + gene with protein product + + + + Ensembl + ENSG00000119686 + + + Genatlas + FLVCR2 + + + HGNC + 20105 + + + OMIM + 610865 + + + SwissProt + Q9UPI3 + + + IUPHAR + 1911 + + + ClinVar + FLVCR2 + + + + + 14q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 221139 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221139 + Combined immunodeficiency with facio-oculo-skeletal anomalies + + Disease + + + Disorder + + + + 29180244[PMID] + + kinetochore localized astrin (SPAG5) binding protein + KNSTRN + + small kinetochore-associated protein + TRAF4 associated factor 1 + TRAF4AF1 + FLJ14502 + kinastrin + kinetochore-localized astrin-binding protein + SKAP + + + gene with protein product + + + + ClinVar + KNSTRN + + + HGNC + 30767 + + + Ensembl + ENSG00000128944 + + + SwissProt + Q9Y448 + + + Genatlas + KNSTRN + + + OMIM + 614718 + + + Reactome + Q9Y448 + + + + + 15q15.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 29180244[PMID] + + phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta + PIK3CD + + p110D + phosphatidylinositol 3-kinase, catalytic, delta polypeptide + phosphoinositide-3-kinase C + + + gene with protein product + + + + OMIM + 602839 + + + Reactome + O00329 + + + SwissProt + O00329 + + + Ensembl + ENSG00000171608 + + + Genatlas + PIK3CD + + + HGNC + 8977 + + + IUPHAR + 2155 + + + ClinVar + PIK3CD + + + + + 1p36.22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 221145 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221145 + Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies + + Malformation syndrome + + + Disorder + + + + 19836010[PMID]_22829427[PMID] + + latent transforming growth factor beta binding protein 4 + LTBP4 + + FLJ46318 + FLJ90018 + LTBP-4 + LTBP-4L + + + gene with protein product + + + + Ensembl + ENSG00000090006 + + + Genatlas + LTBP4 + + + HGNC + 6717 + + + OMIM + 604710 + + + Reactome + Q8N2S1 + + + SwissProt + Q8N2S1 + + + ClinVar + LTBP4 + + + + + 19q13.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 19836010[PMID]_22829427[PMID] + + latent transforming growth factor beta binding protein 4 + LTBP4 + + FLJ46318 + FLJ90018 + LTBP-4 + LTBP-4L + + + gene with protein product + + + + Ensembl + ENSG00000090006 + + + Genatlas + LTBP4 + + + HGNC + 6717 + + + OMIM + 604710 + + + Reactome + Q8N2S1 + + + SwissProt + Q8N2S1 + + + ClinVar + LTBP4 + + + + + 19q13.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 228003 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228003 + Severe combined immunodeficiency due to CORO1A deficiency + + Disease + + + Disorder + + + + 23522482[PMID] + + coronin 1A + CORO1A + + Clabp TACO + HCORO1 + coronin-1 + p57 + + + gene with protein product + + + + Reactome + P31146 + + + Ensembl + ENSG00000102879 + + + Genatlas + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228305 + Carnitine palmitoyl transferase II deficiency, severe infantile form + + Clinical subtype + + + Subtype of disorder + + + + + + carnitine palmitoyltransferase 2 + CPT2 + + CPTASE + + + gene with protein product + + + + Genatlas + CPT2 + + + HGNC + 2330 + + + OMIM + 600650 + + + Reactome + P23786 + + + SwissProt + P23786 + + + Ensembl + ENSG00000157184 + + + IUPHAR + 3252 + + + ClinVar + CPT2 + + + + + 1p32.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 228308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228308 + Carnitine palmitoyl transferase II deficiency, neonatal form + + Clinical subtype + + + Subtype of disorder + + + + + + carnitine palmitoyltransferase 2 + CPT2 + + CPTASE + + + gene with protein product + + + + Genatlas + CPT2 + + + HGNC + 2330 + + + OMIM + 600650 + + + Reactome + P23786 + + + SwissProt + P23786 + + + Ensembl + ENSG00000157184 + + + IUPHAR 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calcium-activated potassium channel + small conductance calcium-activated potassium channel 4 + + + gene with protein product + + + + Ensembl + ENSG00000104783 + + + Genatlas + KCNN4 + + + HGNC + 6293 + + + IUPHAR + 384 + + + OMIM + 602754 + + + Reactome + O15554 + + + SwissProt + O15554 + + + ClinVar + KCNN4 + + + + + 19q13.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 228140 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228140 + Idiopathic ventricular fibrillation + + Disease + + + Disorder + + + + 10940383[PMID] + + sodium voltage-gated channel alpha subunit 5 + SCN5A + + CDCD2 + CMPD2 + HB1 + HB2 + HBBD + HH1 + ICCD + IVF + LQT3 + Nav1.5 + PFHB1 + SSS1 + long QT syndrome 3 + + + gene with protein product + + + + ClinVar + SCN5A + + + Ensembl + ENSG00000183873 + + + Genatlas + SCN5A + + + HGNC + 10593 + + + IUPHAR + 582 + + + OMIM + 600163 + + + Reactome + Q14524 + + + SwissProt + Q14524 + + + + + 3p22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 19285295[PMID]_21512816[PMID] + + dipeptidyl peptidase like 6 + DPP6 + + DPL1 + DPPX + + + gene with protein product + + + + Ensembl + ENSG00000130226 + + + Genatlas + DPP6 + + + HGNC + 3010 + + + OMIM + 126141 + + + SwissProt + P42658 + + + ClinVar + DPP6 + + + + + 7q36.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1018 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1018 + X-linked Alport syndrome-diffuse leiomyomatosis + + Clinical subtype + + + Subtype of disorder + + + + 20951201[PMID] + + collagen type IV alpha 6 chain + COL4A6 + + + + gene with protein product + + + + ClinVar + COL4A6 + + + HGNC + 2208 + + + OMIM + 303631 + + + Reactome + Q14031 + + + SwissProt + Q14031 + + + Ensembl + ENSG00000197565 + + + Genatlas + COL4A6 + + + + + Xq22.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 20951201[PMID] + + collagen type IV alpha 5 chain + COL4A5 + + + 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O43525 + + + + + 8q24.22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22243967[PMID]_22399141[PMID]_22623405[PMID] + + proline rich transmembrane protein 2 + PRRT2 + + interferon induced transmembrane protein domain containing 1 + dispanin subfamily B member 3 + DKFZp547J199 + DSPB3 + EKD1 + FICCA + FLJ25513 + IFITMD1 + Interferon induced transmembrane protein domain containing 1 + PKC + Paroxysmal kinesigenic dyskinesia + Episodic kinesigenic dyskinesia 1 + + + gene with protein product + + + + Ensembl + ENSG00000167371 + + + Genatlas + PRRT2 + + + HGNC + 30500 + + + OMIM + 614386 + + + SwissProt + Q7Z6L0 + + + ClinVar + PRRT2 + + + + + 16p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 328 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=328 + Congenital factor X deficiency + + Disease + + + Disorder + + + + 15892863[PMID]_26222694[PMID]_26309706[PMID] + + coagulation factor X + F10 + + + + gene with protein product + + + + Ensembl + ENSG00000126218 + + + Genatlas + F10 + + + HGNC + 3528 + + + IUPHAR + 2359 + + + OMIM + 613872 + + + Reactome + P00742 + + + SwissProt + P00742 + + + ClinVar + F10 + + + + + 13q34 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 228174 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228174 + Autosomal dominant Charcot-Marie-Tooth disease type 2N + + Disease + + + Disorder + + + + 20301462[PMID] + + alanyl-tRNA synthetase 1 + AARS1 + + AlaRS + CMT2N + alanine tRNA ligase 1, cytoplasmic + + + gene with protein product + + + + Ensembl + ENSG00000090861 + + + Genatlas + AARS + + + HGNC + 20 + + + OMIM + 601065 + + + Reactome + P49588 + + + SwissProt + P49588 + + + ClinVar + AARS + + + + + 16q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 228169 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228169 + Autosomal dominant striatal neurodegeneration + + Disease 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2133 + Hemoglobin E disease + + Disease + + + Disorder + + + + 21886666[PMID] + + hemoglobin subunit beta + HBB + + CD113t-C + beta-globin + + + gene with protein product + + + + ClinVar + HBB + + + HGNC + 4827 + + + OMIM + 141900 + + + Reactome + P68871 + + + SwissProt + P68871 + + + Ensembl + ENSG00000244734 + + + Genatlas + HBB + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 228179 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228179 + Autosomal dominant Charcot-Marie-Tooth disease type 2M + + Disease + + + Disorder + + + + 18394888[PMID]_17636067[PMID] + + dynamin 2 + DNM2 + + CMT2M + CMTDI1 + CMTDIB + DI-CMTB + DYN2 + DYNII + cytoskeletal protein + dynamin II + + + gene with protein product + + + + ClinVar + DNM2 + + + Ensembl + ENSG00000079805 + + + Genatlas + DNM2 + + + HGNC + 2974 + + + OMIM + 602378 + + + Reactome + P50570 + + + SwissProt + P50570 + 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23664421[PMID] + + erythrocyte membrane protein band 4.1 + EPB41 + + 4.1R + + + gene with protein product + + + + Reactome + P11171 + + + HGNC + 3377 + + + OMIM + 130500 + + + SwissProt + P11171 + + + Ensembl + ENSG00000159023 + + + Genatlas + EPB41 + + + ClinVar + EPB41 + + + IUPHAR + 3151 + + + + + 1p35.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 1884026[PMID]_8353290[PMID] + + glycophorin C (Gerbich blood group) + GYPC + + CD236 + CD236R + GPC + GYPD + Ge + glycophorin D + GPD + Gerbich antigen + sialoglycoprotein D + + + gene with protein product + + + + SwissProt + P04921 + + + Ensembl + ENSG00000136732 + + + Genatlas + GYPC + + + HGNC + 4704 + + + OMIM + 110750 + + + Reactome + P04921 + + + ClinVar + GYPC + + + + + 2q14.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 231531 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231531 + Hermansky-Pudlak syndrome due to BLOC-1 deficiency + + Clinical subtype + + + Subtype of disorder + + + + 12923531[PMID] + + dystrobrevin binding protein 1 + DTNBP1 + + BLOC1S8 + DBND + Dysbindin + HPS7 + My031 + biogenesis of lysosomal organelles complex-1, subunit 8 + dysbindin-1 + + + gene with protein product + + + + ClinVar + DTNBP1 + + + Ensembl + ENSG00000047579 + + + Genatlas + DTNBP1 + + + HGNC + 17328 + + + OMIM + 607145 + + + Reactome + Q96EV8 + + + SwissProt + Q96EV8 + + + + + 6p22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 16420244[PMID]_27514596[PMID]_20301464[PMID] + + biogenesis of lysosomal organelles complex 1 subunit 5 + BLOC1S5 + + MU + dJ303A1.3 + + + gene with protein product + + + + HGNC + 18561 + + + OMIM + 607289 + + + SwissProt + Q8TDH9 + + + Ensembl + ENSG00000188428 + + + + + 6p24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 16420244[PMID]_27514596[PMID]_20301464[PMID] + + biogenesis of lysosomal organelles complex 1 subunit 3 + BLOC1S3 + + BLOC-1 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(autosomal recessive) + USH1H + + + + Disorder-associated locus + + + + HGNC + 22433 + + + + + 15q22-q23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23023331[PMID]_20301442[PMID] + + calcium and integrin binding family member 2 + CIB2 + + KIP2 + kinase interacting protein 2 + + + gene with protein product + + + + Ensembl + ENSG00000136425 + + + Genatlas + CIB2 + + + HGNC + 24579 + + + OMIM + 605564 + + + SwissProt + O75838 + + + ClinVar + CIB2 + + + + + 15q25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 29572253[PMID] + + espin + ESPN + + + + gene with protein product + + + + Ensembl + ENSG00000187017 + + + Genatlas + ESPN + + + HGNC + 13281 + + + OMIM + 606351 + + + SwissProt + B1AK53 + + + ClinVar + ESPN + + + + + 1p36.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 231140 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231140 + Silver-Russell syndrome due to an imprinting defect of 11p15 + + Etiological subtype + + + Subtype of disorder + + + + 33236057[PMID] + + insulin like growth factor 2 + IGF2 + + FLJ44734 + IGF-II + preptin + somatomedin A + + + gene with protein product + + + + Ensembl + ENSG00000167244 + + + Genatlas + IGF2 + + + HGNC + 5466 + + + OMIM + 147470 + + + Reactome + P01344 + + + SwissProt + P01344 + + + ClinVar + IGF2 + + + + + 11p15.5 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 19675668[PMID] + + H19 imprinted maternally expressed transcript + H19 + + GMRSP + ASM + ASM1 + D11S813E + LINC00008 + NCRNA00008 + long intergenic non-protein coding RNA 8 + non-protein coding RNA 8 + MIR675HG + MIR675 host gene + glucose metabolism regulatory protein + adult skeletal muscle + + + Non-coding RNA + + + + Ensembl + ENSG00000130600 + + + Genatlas + H19 + + + HGNC + 4713 + + + OMIM + 103280 + + + ClinVar + H19 + + + + + 11p15.5 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 231144 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231144 + Silver-Russell syndrome due to 11p15 microduplication + + Etiological subtype + + + Subtype of disorder + + + + 28592837[PMID] + + H19 imprinted maternally expressed transcript + H19 + + GMRSP + ASM + ASM1 + D11S813E + LINC00008 + NCRNA00008 + long intergenic non-protein coding RNA 8 + non-protein coding RNA 8 + MIR675HG + MIR675 host gene + glucose metabolism regulatory protein + adult skeletal muscle + + + Non-coding RNA + + + + Ensembl + ENSG00000130600 + + + Genatlas + H19 + + + HGNC + 4713 + + + OMIM + 103280 + + + ClinVar + H19 + + + + + 11p15.5 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 20503324[PMID] + + insulin like growth factor 2 + IGF2 + + FLJ44734 + IGF-II + preptin + somatomedin A + + + gene with protein product + + + + Ensembl + ENSG00000167244 + + + Genatlas + IGF2 + + + HGNC + 5466 + + + OMIM + 147470 + + + Reactome + P01344 + + + SwissProt + P01344 + + + ClinVar + IGF2 + + + + + 11p15.5 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 231120 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120 + Beckwith-Wiedemann syndrome due to CDKN1C mutation + + Etiological subtype + + + Subtype of disorder + + + + 26077438[PMID]_20803657[PMID]_20301568[PMID] + + cyclin dependent kinase inhibitor 1C + CDKN1C + + KIP2 + P57 + + + gene with protein product + + + + Ensembl + ENSG00000129757 + + + Genatlas + CDKN1C + + + HGNC + 1786 + + + OMIM + 600856 + + + SwissProt + P49918 + + + Reactome + P49918 + + + ClinVar + CDKN1C + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 231127 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127 + Beckwith-Wiedemann syndrome due to 11p15 microdeletion + + Etiological subtype + + + Subtype of disorder + + + + 15314640[PMID] + + H19 imprinted maternally expressed transcript + H19 + + GMRSP + ASM + ASM1 + D11S813E + LINC00008 + NCRNA00008 + long intergenic non-protein coding RNA 8 + non-protein coding RNA 8 + MIR675HG + MIR675 host gene + glucose metabolism regulatory protein + adult skeletal muscle + + + Non-coding RNA + + + + Ensembl + ENSG00000130600 + + + Genatlas + H19 + + + HGNC + 4713 + + + OMIM + 103280 + + + ClinVar + H19 + + + + + 11p15.5 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 231108 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231108 + Rhabdoid tumor predisposition syndrome + + Disease + + + Disorder + + + + 10521299[PMID] + + SWI/SNF related BAF chromatin remodeling complex subunit B1 + SMARCB1 + + BAF47 + Ini1 + PPP1R144 + RDT + Sfh1p + Snr1 + hSNFS + integrase interactor 1 + malignant rhabdoid tumor suppressor + protein phosphatase 1, regulatory subunit 144 + sucrose nonfermenting, yeast, homolog-like 1 + INI-1 + SNF5 + + + gene with protein product + + + + ClinVar + SMARCB1 + + + Reactome + Q12824 + + + SwissProt + Q12824 + + + Ensembl + ENSG00000099956 + + + Genatlas + SMARCB1 + + + HGNC + 11103 + + + OMIM + 601607 + + + + + 22q11.23 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 20137775[PMID]_21566516[PMID] + + SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 + SMARCA4 + + ATP-dependent helicase SMARCA4 + BAF190 + BRG1 + BRM/SWI2-related gene 1 + FLJ39786 + SNF2 + SNF2-BETA + SNF2-like 4 + SNF2LB + SWI2 + brahma protein-like 1 + global transcription activator homologous sequence + hSNF2b + homeotic gene regulator + mitotic growth and transcription activator + nuclear protein GRB1 + sucrose nonfermenting-like 4 + + + gene with protein product + + + + Ensembl + ENSG00000127616 + + + Genatlas + SMARCA4 + + + HGNC + 11100 + + + IUPHAR + 2740 + + + OMIM + 603254 + + + Reactome + P51532 + + + SwissProt + P51532 + + + ClinVar + SMARCA4 + + + + + 19p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 231117 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117 + Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 + + Etiological subtype + + + Subtype of disorder + + + + 21863054[PMID]_20803657[PMID]_20301568[PMID] + + H19 imprinted maternally expressed transcript + H19 + + GMRSP + ASM + ASM1 + D11S813E + LINC00008 + NCRNA00008 + long intergenic non-protein coding RNA 8 + non-protein coding RNA 8 + MIR675HG + MIR675 host gene + glucose metabolism regulatory protein + adult skeletal muscle + + + Non-coding RNA + + + + Ensembl + ENSG00000130600 + + + Genatlas + H19 + + + HGNC + 4713 + + + OMIM + 103280 + + + ClinVar + H19 + + + + + 11p15.5 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 12019213[PMID]_20803657[PMID]_20301568[PMID] + + KCNQ1 opposite strand/antisense transcript 1 + KCNQ1OT1 + + KCNQ1 antisense RNA 2 (non-protein coding) + KCNQ1 overlapping transcript 1 (non-protein coding) + KCNQ1-AS2 + KvDMR1 + KvLQT1-AS + LIT1 + NCRNA00012 + non-protein coding RNA 12 + + + Non-coding RNA + + + + ClinVar + KCNQ1OT1 + + + Ensembl + ENSG00000269821 + + + Genatlas + KCNQ1OT1 + + + HGNC + 6295 + + + OMIM + 604115 + + + + + 11p15.5 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 21863054[PMID]_20803657[PMID]_20301568[PMID] + + insulin like growth factor 2 + IGF2 + + FLJ44734 + IGF-II + preptin + somatomedin A + + + gene with protein product + + + + Ensembl + ENSG00000167244 + + + Genatlas + IGF2 + + + HGNC + 5466 + + + OMIM + 147470 + + + Reactome + P01344 + + + SwissProt + P01344 + + + ClinVar + IGF2 + + + + + 11p15.5 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 231040 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231040 + Familial generalized lentiginosis + + Disease + + + Disorder + + + + 26203640[PMID] + + SAM and SH3 domain containing 1 + SASH1 + + KIAA0790 + SH3D6A + dJ323M4.1 + + + gene with protein product + + + + Ensembl + ENSG00000111961 + + + Genatlas + SASH1 + + + HGNC + 19182 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IDDM20 + LNK + lymphocyte adaptor protein + + + gene with protein product + + + + ClinVar + SH2B3 + + + Ensembl + ENSG00000111252 + + + Genatlas + SH2B3 + + + HGNC + 29605 + + + OMIM + 605093 + + + Reactome + Q9UQQ2 + + + SwissProt + Q9UQQ2 + + + + + 12q24.12 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 9258660[PMID]_21653328[PMID]_20068225[PMID] + + tumor protein p53 + TP53 + + LFS1 + Li-Fraumeni syndrome + P53 + p53 + + + gene with protein product + + + + Ensembl + ENSG00000141510 + + + Genatlas + TP53 + + + HGNC + 11998 + + + OMIM + 191170 + + + Reactome + P04637 + + + SwissProt + P04637 + + + ClinVar + TP53 + + + + + 17p13.1 + 1 + + + + + Biomarker tested in + + + Assessed + + + + + + 230857 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230857 + Ehlers-Danlos/osteogenesis imperfecta syndrome + + Disease + + + Disorder + + + + 15728585[PMID]_23692737[PMID]_25674388[PMID] + + collagen type I alpha 1 chain + COL1A1 + + OI4 + + + gene 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alpha 2 chain + COL1A2 + + alpha 2(I)-collagen + alpha-2 collagen type I + collagen I, alpha-2 polypeptide + collagen of skin, tendon and bone, alpha-2 chain + type I procollagen + + + gene with protein product + + + + ClinVar + COL1A2 + + + OMIM + 120160 + + + Reactome + P08123 + + + SwissProt + P08123 + + + Ensembl + ENSG00000164692 + + + Genatlas + COL1A2 + + + HGNC + 2198 + + + + + 7q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 82 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=82 + Hereditary thrombophilia due to congenital antithrombin deficiency + + Disease + + + Disorder + + + + 24684277[PMID] + + serpin family C member 1 + SERPINC1 + + ATIII + MGC22579 + antithrombin (aa 375-432) + antithrombin III + coding sequence signal peptide antithrombin part 1 + signal peptide antithrombin part 1 + + + gene with protein product + + + + ClinVar + SERPINC1 + + + Ensembl + ENSG00000117601 + + + Genatlas + SERPINC1 + + + HGNC + 775 + + + IUPHAR + 2632 + + + OMIM + 107300 + + + Reactome + P01008 + + + SwissProt + P01008 + + + + + 1q25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 230839 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230839 + Classical-like Ehlers-Danlos syndrome type 1 + + Disease + + + Disorder + + + + 11642233[PMID] + + tenascin XB + TNXB + + TNXBS + XB + XBS + TNX + HXBL + TN-X + Hexabrachion-like protein + tenascin-X + + + gene with protein product + + + + Ensembl + ENSG00000168477 + + + Genatlas + TNXB + + + HGNC + 11976 + + + OMIM + 600985 + + + Reactome + P22105 + + + SwissProt + P22105 + + + ClinVar + TNXB + + + + + 6p21.33-p21.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 238269 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238269 + AApoAII amyloidosis + + Clinical subtype + + + Subtype of disorder + + + + 11401442[PMID] + + apolipoprotein A2 + APOA2 + + + + gene with protein product + 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apoptosis inducing factor mitochondria associated 1 + AIFM1 + + AIF + CMTX4 + DFNX5 + + + gene with protein product + + + + OMIM + 300169 + + + SwissProt + O95831 + + + Ensembl + ENSG00000156709 + + + Genatlas + AIFM1 + + + HGNC + 8768 + + + Reactome + O95831 + + + ClinVar + AIFM1 + + + + + Xq26.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 231568 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231568 + Autosomal dominant generalized dystrophic epidermolysis bullosa + + Disease + + + Disorder + + + + + + collagen type VII alpha 1 chain + COL7A1 + + LC collagen + collagen VII, alpha-1 polypeptide + + + gene with protein product + + + + ClinVar + COL7A1 + + + Ensembl + ENSG00000114270 + + + Genatlas + COL7A1 + + + HGNC + 2214 + + + OMIM + 120120 + + + Reactome + Q02388 + + + SwissProt + Q02388 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 1900 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1900 + Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency + + Clinical subtype + + + Subtype of disorder + + + + 15979919[PMID]_20301635[PMID] + + procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 + PLOD1 + + LH1 + lysyl hydroxlase 1 + procollagen lysyl hydroxylase 1 + + + gene with protein product + + + + ClinVar + PLOD1 + + + Ensembl + ENSG00000083444 + + + Genatlas + PLOD1 + + + HGNC + 9081 + + + OMIM + 153454 + + + Reactome + Q02809 + + + SwissProt + Q02809 + + + + + 1p36.22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 231671 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231671 + Isolated growth hormone deficiency type IB + + Clinical subtype + + + Subtype of disorder + + + + 19762173[PMID]_22139958[PMID] + + growth hormone 1 + GH1 + + hGH + GH + GH-N + GHN + hGH-N + pituitary growth hormone + somatotropin + + + gene with protein product + + + + ClinVar + GH1 + + + Ensembl + ENSG00000259384 + + + Genatlas + GH1 + + + HGNC + 4261 + + + OMIM + 139250 + + + Reactome + P01241 + + + SwissProt + P01241 + + + + + 17q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 286 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=286 + Vascular Ehlers-Danlos syndrome + + Disease + + + Disorder + + + + 20301667[PMID] + + collagen type III alpha 1 chain + COL3A1 + + + + gene with protein product + + + + ClinVar + COL3A1 + + + Ensembl + ENSG00000168542 + + + Genatlas + COL3A1 + + + HGNC + 2201 + + + OMIM + 120180 + + + Reactome + P02461 + + + SwissProt + P02461 + + + + + 2q32.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 231679 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231679 + Isolated growth hormone deficiency type II + + Clinical subtype + + + Subtype of disorder + + + + 19762173[PMID]_22139958[PMID] + + growth hormone 1 + GH1 + + hGH + GH 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hormone 1 + GH1 + + hGH + GH + GH-N + GHN + hGH-N + pituitary growth hormone + somatotropin + + + gene with protein product + + + + ClinVar + GH1 + + + Ensembl + ENSG00000259384 + + + Genatlas + GH1 + + + HGNC + 4261 + + + OMIM + 139250 + + + Reactome + P01241 + + + SwissProt + P01241 + + + + + 17q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24480542[PMID] + + RNA binding region (RNP1, RRM) containing 3 + RNPC3 + + FLJ20008 + KIAA1839 + RBM40 + SNRNP65 + U11/U12 snRNP 65K + + + gene with protein product + + + + Ensembl + ENSG00000185946 + + + Genatlas + RNPC3 + + + HGNC + 18666 + + + Reactome + Q96LT9 + + + SwissProt + Q96LT9 + + + OMIM + 618016 + + + ClinVar + RNPC3 + + + + + 1p21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 257 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=257 + Epidermolysis bullosa simplex with muscular dystrophy + + Disease + + + Disorder + + + + 20052759[PMID] + + plectin 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syndrome + + Disease + + + Disorder + + + + 9295084[PMID]_8071956[PMID] + + collagen type I alpha 2 chain + COL1A2 + + alpha 2(I)-collagen + alpha-2 collagen type I + collagen I, alpha-2 polypeptide + collagen of skin, tendon and bone, alpha-2 chain + type I procollagen + + + gene with protein product + + + + ClinVar + COL1A2 + + + OMIM + 120160 + + + Reactome + P08123 + + + SwissProt + P08123 + + + Ensembl + ENSG00000164692 + + + Genatlas + COL1A2 + + + HGNC + 2198 + + + + + 7q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 9295084[PMID]_1867198[PMID] + + collagen type I alpha 1 chain + COL1A1 + + OI4 + + + gene with protein product + + + + ClinVar + COL1A1 + + + Ensembl + ENSG00000108821 + + + Genatlas + COL1A1 + + + HGNC + 2197 + + + OMIM + 120150 + + + Reactome + P02452 + + + SwissProt + P02452 + + + + + 17q21.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 839 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=839 + Congenital nephrotic syndrome, Finnish type + + Disease + + + Disorder + + + + 9660941[PMID] + + NPHS1 adhesion molecule, nephrin + NPHS1 + + CNF + NPHN + + + gene with protein product + + + + ClinVar + NPHS1 + + + Ensembl + ENSG00000161270 + + + Genatlas + NPHS1 + + + HGNC + 7908 + + + OMIM + 602716 + + + Reactome + O60500 + + + SwissProt + O60500 + + + + + 19q13.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 531 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531 + Miller-Dieker syndrome + + Malformation syndrome + + + Disorder + + + + 10072440[PMID]_10655551[PMID] + + HIC ZBTB transcriptional repressor 1 + HIC1 + + ZBTB29 + ZNF901 + + + gene with protein product + + + + ClinVar + HIC1 + + + Ensembl + ENSG00000177374 + + + Genatlas + HIC1 + + + HGNC + 4909 + + + OMIM + 603825 + + + SwissProt + Q14526 + + + Reactome + Q14526 + + + + + 17p13.3 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 19584063[PMID] + + tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon + YWHAE + + 14-3-3 epsilon + FLJ45465 + + + gene with protein product + + + + ClinVar + YWHAE + + + Ensembl + ENSG00000108953 + + + Genatlas + YWHAE + + + HGNC + 12851 + + + OMIM + 605066 + + + Reactome + P62258 + + + SwissProt + P62258 + + + + + 17p13.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 12621583[PMID] + + platelet activating factor acetylhydrolase 1b regulatory subunit 1 + PAFAH1B1 + + LIS1 + PAFAH + lissencephaly-1 + NudF + + + gene with protein product + + + + Ensembl + ENSG00000007168 + + + Genatlas + PAFAH1B1 + + + HGNC + 8574 + + + OMIM + 601545 + + + Reactome + P43034 + + + SwissProt + P43034 + + + ClinVar + PAFAH1B1 + + + + + 17p13.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 452 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452 + X-linked lissencephaly with abnormal genitalia + + Malformation syndrome + + + Disorder + + + + 12379852[PMID]_12874405[PMID] + + aristaless related homeobox + ARX + + CT121 + EIEE1 + ISSX + cancer/testis antigen 121 + + + gene with protein product + + + + ClinVar + ARX + + + SwissProt + Q96QS3 + + + Ensembl + ENSG00000004848 + + + Genatlas + ARX + + + HGNC + 18060 + + + OMIM + 300382 + + + + + Xp21.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 238763 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238763 + Glaucoma secondary to spherophakia/ectopia lentis and megalocornea + + Malformation syndrome + + + Disorder + + + + 20179738[PMID]_22025892[PMID] + + latent transforming growth factor beta binding protein 2 + LTBP2 + + + + gene with protein product + + + + ClinVar + LTBP2 + + + Ensembl + ENSG00000119681 + + + Genatlas + LTBP2 + + + HGNC + 6715 + + + OMIM + 602091 + + + Reactome + Q14767 + + + SwissProt + Q14767 + + + + + 14q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 238722 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238722 + Familial congenital mirror movements + + Disease + + + Disorder + + + + 25098561[PMID] + + dynein axonemal light chain 4 + DNAL4 + + dJ327J16 + PIG27 + + + gene with protein product + + + + SwissProt + O96015 + + + OMIM + 610565 + + + HGNC + 2955 + + + Ensembl + ENSG00000100246 + + + Genatlas + DNAL4 + + + Reactome + O96015 + + + ClinVar + DNAL4 + + + + + 22q13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22305526[PMID] + + RAD51 recombinase + RAD51 + + BRCA1/BRCA2-containing complex, subunit 5 + BRCC5 + FANCR + HsRad51 + HsT16930 + + + gene with protein product + + + + ClinVar + RAD51 + + + Ensembl + ENSG00000051180 + + + Genatlas + RAD51 + + + HGNC + 9817 + + + OMIM + 179617 + + + Reactome + Q06609 + + + SwissProt + Q06609 + + + + + 15q15.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20431009[PMID] + + DCC netrin 1 receptor + DCC + + IGDCC1 + NTN1R1 + immunoglobulin superfamily, DCC subclass, member 1 + + + gene with protein product + + + + Ensembl + ENSG00000187323 + + + Genatlas + DCC + + + HGNC + 2701 + + + OMIM + 120470 + + + Reactome + P43146 + + + SwissProt + P43146 + + + ClinVar + DCC + + + + + 18q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 28945198[PMID] + + netrin 1 + NTN1 + + Netrin-1 + NTN1L + NET1 + + + gene with protein product + + + + Genatlas + NTN1 + + + ClinVar + NTN1 + + + Reactome + O95631 + + + HGNC + 8029 + + + OMIM + 601614 + + + Ensembl + ENSG00000065320 + + + SwissProt + O95631 + + + + + 17p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 238769 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238769 + 1q44 microdeletion syndrome + + Malformation syndrome + + + Disorder + + + + 28283832[PMID] + + heterogeneous nuclear ribonucleoprotein U 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238475 + Familial hypercholanemia + + Disease + + + Disorder + + + + 12878321[PMID]_25992604[PMID] + + epoxide hydrolase 1 + EPHX1 + + + + gene with protein product + + + + Ensembl + ENSG00000143819 + + + Genatlas + EPHX1 + + + HGNC + 3401 + + + OMIM + 132810 + + + Reactome + P07099 + + + SwissProt + P07099 + + + ClinVar + EPHX1 + + + + + 1q42.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 12704386[PMID] + + tight junction protein 2 + TJP2 + + Friedreich ataxia region gene X104 (tight junction protein ZO-2) + X104 + ZO-2 + ZO2 + zona occludens 2 + + + gene with protein product + + + + Ensembl + ENSG00000119139 + + + Genatlas + TJP2 + + + HGNC + 11828 + + + OMIM + 607709 + + + Reactome + Q9UDY2 + + + SwissProt + Q9UDY2 + + + ClinVar + TJP2 + + + + + 9q21.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 12704386[PMID] + + bile acid-CoA:amino acid N-acyltransferase 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SLC6A3 + + Sodium-dependent dopamine transporter + DAT + dopamine transporter + + + gene with protein product + + + + Ensembl + ENSG00000142319 + + + Genatlas + SLC6A3 + + + HGNC + 11049 + + + IUPHAR + 927 + + + OMIM + 126455 + + + Reactome + Q01959 + + + SwissProt + Q01959 + + + ClinVar + SLC6A3 + + + + + 5p15.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 31970218[PMID]_34890876[PMID] + + tryptophanyl tRNA synthetase 2, mitochondrial + WARS2 + + TrpRS + mtTrpRS + tryptophan tRNA ligase 2, mitochondrial + + + gene with protein product + + + + Genatlas + WARS2 + + + HGNC + 12730 + + + SwissProt + Q9UGM6 + + + OMIM + 604733 + + + Ensembl + ENSG00000116874 + + + Reactome + Q9UGM6 + + + ClinVar + WARS2 + + + + + 1p12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 238459 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238459 + SLC35A1-CDG + + Disease + + + Disorder + + + + 20301507[PMID] + + solute carrier 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Chuvash erythrocytosis + + Disease + + + Disorder + + + + 11987242[PMID]_24115288[PMID] + + von Hippel-Lindau tumor suppressor + VHL + + VHL1 + + + gene with protein product + + + + ClinVar + VHL + + + IUPHAR + 3204 + + + Ensembl + ENSG00000134086 + + + Genatlas + VHL + + + HGNC + 12687 + + + OMIM + 608537 + + + Reactome + P40337 + + + SwissProt + P40337 + + + + + 3p25.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 238569 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238569 + Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome + + Disease + + + Disorder + + + + 22549091[PMID] + + interleukin 10 + IL10 + + CSIF + IL-10 + IL10A + T-cell growth inhibitory factor + TGIF + cytokine synthesis inhibitory factor + + + gene with protein product + + + + ClinVar + IL10 + + + Reactome + P22301 + + + Ensembl + ENSG00000136634 + + + Genatlas + IL10 + + + HGNC + 5962 + + + OMIM + 124092 + + + SwissProt + P22301 + + + + + 1q32.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 22549091[PMID] + + interleukin 10 receptor subunit alpha + IL10RA + + CD210 + CD210a + CDW210A + HIL-10R + + + gene with protein product + + + + Ensembl + ENSG00000110324 + + + Genatlas + IL10RA + + + HGNC + 5964 + + + OMIM + 146933 + + + SwissProt + Q13651 + + + IUPHAR + 1727 + + + Reactome + Q13651 + + + ClinVar + IL10RA + + + + + 11q23.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 22549091[PMID] + + interleukin 10 receptor subunit beta + IL10RB + + CDW210B + CRF2-4 + IL-10R2 + + + gene with protein product + + + + HGNC + 5965 + + + OMIM + 123889 + + + SwissProt + Q08334 + + + Ensembl + ENSG00000243646 + + + Genatlas + IL10RB + + + Reactome + Q08334 + + + IUPHAR + 1728 + + + ClinVar + IL10RB + + + + + 21q22.11 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 238523 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238523 + Atypical hypotonia-cystinuria syndrome + + Disease + + + Disorder + + + + 18234729[PMID] + + solute carrier family 3 member 1 + SLC3A1 + + ATR1 + CSNU1 + D2H + NBAT + RBAT + neutral and basic amino acid transport protein rBAT + amino acid transporter 1 + + + gene with protein product + + + + Ensembl + ENSG00000138079 + + + Genatlas + SLC3A1 + + + HGNC + 11025 + + + OMIM + 104614 + + + Reactome + Q07837 + + + SwissProt + Q07837 + + + ClinVar + SLC3A1 + + + IUPHAR + 889 + + + + + 2p21 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 18234729[PMID] + + prolyl endopeptidase like + PREPL + + KIAA0436 + + + gene with protein product + + + + IUPHAR + 2870 + + + ClinVar + PREPL + + + Ensembl + ENSG00000138078 + + + Genatlas + PREPL + + + HGNC + 30228 + + + OMIM + 609557 + + + SwissProt + Q4J6C6 + + + + + 2p21 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 18234729[PMID] + + calmodulin-lysine N-methyltransferase + CAMKMT + + CLNMT + CaM KMT + + + gene with protein product + + + + Ensembl + ENSG00000143919 + + + Genatlas + C2orf34 + + + HGNC + 26276 + + + OMIM + 609559 + + + Reactome + Q7Z624 + + + SwissProt + Q7Z624 + + + ClinVar + C2orf34 + + + + + 2p21 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 238670 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238670 + Isolated thyrotropin-releasing hormone deficiency + + Disease + + + Disorder + + + + 20687402[PMID] + + thyrotropin releasing hormone + TRH + + prothyroliberin + + + gene with protein product + + + + Ensembl + ENSG00000170893 + + + Genatlas + TRH + + + HGNC + 12298 + + + OMIM + 613879 + + + Reactome + P20396 + + + SwissProt + P20396 + + + ClinVar + TRH + + + + + 3q22.1 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 240071 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240071 + Classic progressive supranuclear palsy syndrome + + Clinical subtype + + + Subtype of disorder + + + + + + microtubule associated protein tau + MAPT + + FLJ31424 + FTDP-17 + G protein beta1/gamma2 subunit-interacting factor 1 + MGC138549 + MSTD + MTBT1 + MTBT2 + PPND + PPP1R103 + microtubule-associated protein tau, isoform 4 + protein phosphatase 1, regulatory subunit 103 + tau + tau-40 + TAU + Tau-PHF6 + Tau-derived paired helical filament hexapeptide + + + gene with protein product + + + + Ensembl + ENSG00000186868 + + + Genatlas + MAPT + + + HGNC + 6893 + + + OMIM + 157140 + + + Reactome + P10636 + + + SwissProt + P10636 + + + ClinVar + MAPT + + + + + 17q21.31 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 240112 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240112 + Progressive supranuclear palsy-progressive non-fluent aphasia syndrome + + Clinical subtype + + + Subtype of disorder + + + + + + microtubule associated protein tau + MAPT + + FLJ31424 + FTDP-17 + G protein beta1/gamma2 subunit-interacting factor 1 + MGC138549 + MSTD + MTBT1 + MTBT2 + PPND + PPP1R103 + microtubule-associated protein tau, isoform 4 + protein phosphatase 1, regulatory subunit 103 + tau + tau-40 + TAU + Tau-PHF6 + Tau-derived paired helical filament hexapeptide + + + gene with protein product + + + + Ensembl + ENSG00000186868 + + + Genatlas + MAPT + + + HGNC + 6893 + + + OMIM + 157140 + + + Reactome + P10636 + + + SwissProt + P10636 + + + ClinVar + MAPT + + + + + 17q21.31 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 240103 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240103 + Progressive supranuclear palsy-corticobasal syndrome + + Clinical subtype + + + Subtype of disorder + + + + + + microtubule associated protein tau + MAPT + + FLJ31424 + FTDP-17 + G protein beta1/gamma2 subunit-interacting factor 1 + MGC138549 + MSTD + MTBT1 + MTBT2 + PPND + PPP1R103 + microtubule-associated protein tau, isoform 4 + protein phosphatase 1, regulatory subunit 103 + tau + tau-40 + TAU + Tau-PHF6 + Tau-derived paired helical filament hexapeptide + + + gene with protein product + + + + Ensembl + ENSG00000186868 + + + Genatlas + MAPT + + + HGNC + 6893 + + + OMIM + 157140 + + + Reactome + P10636 + + + SwissProt + P10636 + + + ClinVar + MAPT + + + + + 17q21.31 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 240094 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240094 + Progressive supranuclear palsy-pure akinesia with gait freezing syndrome + + Clinical subtype + + + Subtype of disorder + + + + + + microtubule associated protein tau + MAPT + + FLJ31424 + FTDP-17 + G protein beta1/gamma2 subunit-interacting factor 1 + MGC138549 + MSTD + MTBT1 + MTBT2 + PPND + PPP1R103 + microtubule-associated protein tau, isoform 4 + protein phosphatase 1, regulatory subunit 103 + tau + tau-40 + TAU + Tau-PHF6 + Tau-derived paired helical filament hexapeptide + + + gene with protein product + + + + Ensembl + ENSG00000186868 + + + Genatlas + MAPT + + + HGNC + 6893 + + + OMIM + 157140 + + + Reactome + P10636 + + + SwissProt + P10636 + + + ClinVar + MAPT + + + + + 17q21.31 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 240085 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240085 + Progressive supranuclear palsy-predominant parkinsonism syndrome + + Clinical subtype + + + Subtype of disorder + + + + + + microtubule associated protein tau + MAPT + + FLJ31424 + FTDP-17 + G protein beta1/gamma2 subunit-interacting factor 1 + MGC138549 + MSTD + MTBT1 + MTBT2 + PPND + PPP1R103 + microtubule-associated protein tau, isoform 4 + protein phosphatase 1, regulatory subunit 103 + tau + tau-40 + TAU + Tau-PHF6 + Tau-derived paired helical filament hexapeptide + + + gene with protein product + + + + Ensembl + ENSG00000186868 + + + Genatlas + MAPT + + + HGNC + 6893 + + + OMIM + 157140 + + + Reactome + P10636 + + + SwissProt + P10636 + + + ClinVar + MAPT + + + + + 17q21.31 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 240760 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240760 + Nijmegen breakage syndrome-like disorder + + Malformation syndrome + + + Disorder + + + + 21227757[PMID] + + MRE11 double strand break repair nuclease + MRE11 + + AT-like disease + ATLD + + + gene with protein product + + + + ClinVar + MRE11A + + + Ensembl + ENSG00000020922 + + + Genatlas + MRE11A + + + HGNC + 7230 + + + OMIM + 600814 + + + Reactome + P49959 + + + SwissProt + P49959 + + + + + 11q21 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 19409520[PMID] + + RAD50 double strand break repair protein + RAD50 + + RAD50-2 + hRad50 + + + gene with protein product + + + + Reactome + Q92878 + + + SwissProt + Q92878 + + + Ensembl + ENSG00000113522 + + + Genatlas + RAD50 + + + HGNC + 9816 + + + OMIM + 604040 + + + ClinVar + RAD50 + + + + + 5q31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 331226 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331226 + Susceptibility to infection due to TYK2 deficiency + + Disease + + + Disorder + + + + 17088085[PMID]_17521577[PMID] + + tyrosine kinase 2 + TYK2 + + JTK1 + + + gene with protein product + + + + ClinVar + TYK2 + + + Ensembl + ENSG00000105397 + + + Genatlas + TYK2 + + + HGNC + 12440 + + + IUPHAR + 2269 + + + OMIM + 176941 + + + Reactome + P29597 + + + SwissProt + P29597 + + + + + 19p13.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 331176 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331176 + Severe congenital neutropenia due to G6PC3 deficiency + + Disease + + + Disorder + + + + 23018568[PMID]_19118303[PMID]_20799326[PMID] + + glucose-6-phosphatase catalytic subunit 3 + G6PC3 + + UGRP + Ubiquitous glucose-6-phosphatase catalytic subunit-related protein + + + gene with protein product + + + + Ensembl + ENSG00000141349 + + + Genatlas + G6PC3 + + + HGNC + 24861 + + + OMIM + 611045 + + + Reactome + Q9BUM1 + + + SwissProt + Q9BUM1 + + + ClinVar + G6PC3 + + + + + 17q21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 331187 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331187 + Immunodeficiency due to MASP-2 deficiency + + Disease + + + Disorder + + + + 12904520[PMID] + + MBL associated serine protease 2 + MASP2 + + mannose-binding lectin associated protein 19 + mannose-binding lectin-associated serine protease 2 + sMAP + MAP-2 + Map19 + + + gene with protein product + + + + ClinVar + MASP2 + + + SwissProt + O00187 + + + Ensembl + ENSG00000009724 + + + Genatlas + MASP2 + + + HGNC + 6902 + + + OMIM + 605102 + + + Reactome + O00187 + + + + + 1p36.22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 331190 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331190 + Immunodeficiency due to ficolin3 deficiency + + Disease + + + Disorder + + + + 19535802[PMID] + + ficolin 3 + FCN3 + + FCNH + HAKA1 + Hakata antigen + + + gene with protein product + + + + ClinVar + FCN3 + + + Ensembl + ENSG00000142748 + + + Genatlas + FCN3 + + + HGNC + 3625 + + + OMIM + 604973 + + + Reactome + O75636 + + + SwissProt + O75636 + + + + + 1p36.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 331206 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331206 + Severe combined immunodeficiency due to complete RAG1/2 deficiency + + Disease + + + Disorder + + + + 8810255[PMID] + + recombination activating 1 + RAG1 + + MGC43321 + RING finger protein 74 + RNF74 + V(D)J recombination-activating protein 1 + recombination activating protein 1 + + + gene with protein product + + + + ClinVar + RAG1 + + + Ensembl + ENSG00000166349 + + + Genatlas + RAG1 + + + HGNC + 9831 + + + OMIM + 179615 + + + Reactome + P15918 + + + SwissProt + P15918 + + + + + 11p12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 8810255[PMID] + + recombination activating 2 + RAG2 + + + + gene with protein product + + + + ClinVar + RAG2 + + + Ensembl + ENSG00000175097 + + + Genatlas + RAG2 + + + HGNC + 9832 + + + OMIM + 179616 + + + Reactome + P55895 + + + SwissProt + P55895 + + + + + 11p12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 330032 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330032 + Hemoglobin Lepore-beta-thalassemia syndrome + + Disease + + + Disorder + + + + 18932069[PMID] + + hemoglobin subunit delta + HBD + + HBK + + + gene with protein product + + + + Ensembl + ENSG00000223609 + + + Genatlas + HBD + + + HGNC + 4829 + + + OMIM + 142000 + + + Reactome + P02042 + + + SwissProt + P02042 + + + ClinVar + HBD + + + + + 11p15.4 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 330041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330041 + Hemoglobin M disease + + Disease + + + Disorder + + + + 8416301[PMID]_25031065[PMID] + + hemoglobin subunit alpha 2 + HBA2 + + HBA-T2 + + + gene with protein product + + + + ClinVar + HBA2 + + + Ensembl + ENSG00000188536 + + + Genatlas + HBA2 + + + HGNC + 4824 + + + OMIM + 141850 + + + Reactome + P69905 + + + SwissProt + P69905 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 8416301[PMID] + + hemoglobin subunit beta + HBB + + CD113t-C + beta-globin + + + gene with protein product + + + + ClinVar + HBB + + + HGNC + 4827 + + + OMIM + 141900 + + + Reactome + P68871 + + + SwissProt + P68871 + + + Ensembl + ENSG00000244734 + + + Genatlas + HBB + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 8416301[PMID]_3026948[PMID] + + hemoglobin subunit alpha 1 + HBA1 + + HBA-T3 + + + gene with protein product + + + + ClinVar + HBA1 + + + Ensembl + ENSG00000206172 + + + Genatlas + HBA1 + + + HGNC + 4823 + + + OMIM + 141800 + + + Reactome + P69905 + + + SwissProt + P69905 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 330050 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330050 + DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect + + Etiological subtype + + + Subtype of disorder + + + + 17460227[PMID] + + dynamin 1 like + DNM1L + + DRP1 + DVLP + DYMPLE + HDYNIV + VPS1 + + + gene with protein product + + + + ClinVar + DNM1L + + + Ensembl + ENSG00000087470 + + + Genatlas + DNM1L + + + HGNC + 2973 + + + OMIM + 603850 + + + Reactome + O00429 + + + SwissProt + O00429 + + + + + 12p11.21 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 330054 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330054 + Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome + + Disease + + + Disorder + + + + 19409522[PMID] + + growth factor, augmenter of liver regeneration + GFER + + FAD-linked sulfhydryl oxidase ALR + ALR + ERV1 + ERV1 homolog (S. cerevisiae) + HERV1 + HPO1 + HPO2 + HSS + hepatic regenerative stimulation substance + + + gene with protein product + + + + ClinVar + GFER + + + Ensembl + ENSG00000127554 + + + Genatlas + GFER + + + HGNC + 4236 + + + OMIM + 600924 + + + Reactome + P55789 + + + SwissProt + P55789 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 329802 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329802 + 5p13 microduplication syndrome + + Malformation syndrome + + + Disorder + + + + 23085304[PMID] + + NIPBL cohesin loading factor + NIPBL + + DKFZp434L1319 + FLJ11203 + FLJ12597 + FLJ13354 + FLJ13648 + IDN3 + Scc2 + sister chromatid cohesion 2 homolog (yeast) + + + gene with protein product + + + + Ensembl + ENSG00000164190 + + + Genatlas + NIPBL + + + HGNC + 28862 + + + OMIM + 608667 + + + Reactome + Q6KC79 + + + SwissProt + Q6KC79 + + + ClinVar + NIPBL + + + + + 5p13.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 329475 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329475 + Spastic paraplegia-Paget disease of bone syndrome + + Disease + + + Disorder + + + + 22991237[PMID] + + valosin containing protein + VCP + + CDC48 + p97 + IBMPFD + TERA + transitional endoplasmic reticulum ATPase + + + gene with protein product + + + + ClinVar + VCP + + + Ensembl + ENSG00000165280 + + + Genatlas + VCP + + + HGNC + 12666 + + + OMIM + 601023 + + + Reactome + P55072 + + + SwissProt + P55072 + + + + + 9p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 329481 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329481 + Lipoprotein glomerulopathy + + Disease + + + Disorder + + + + 21464714[PMID] + + apolipoprotein E + APOE + + + + gene with protein product + + + + Ensembl + ENSG00000130203 + + + Genatlas + APOE + + + HGNC + 613 + + + OMIM + 107741 + + + Reactome + P02649 + + + SwissProt + P02649 + + + ClinVar + APOE + + + + + 19q13.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 329478 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329478 + Adult-onset distal myopathy due to VCP mutation + + Disease + + + Disorder + + + + 21684747[PMID] + + valosin containing protein + VCP + + CDC48 + p97 + IBMPFD + TERA + transitional endoplasmic reticulum ATPase + + + gene with protein product + + + + ClinVar + VCP + + + Ensembl + ENSG00000165280 + + + Genatlas + VCP + + + HGNC + 12666 + + + OMIM + 601023 + + + Reactome + P55072 + + + SwissProt + P55072 + + + + + 9p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 329931 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329931 + C3 glomerulonephritis + + Histopathological subtype + + + Subtype of disorder + + + + 23728178[PMID] + + complement factor H related 1 + CFHR1 + + CFHL + FHR1 + H36-1 + H36-2 + + + gene with protein product + + + + ClinVar + CFHR1 + + + Ensembl + ENSG00000244414 + + + Genatlas + CFHR1 + + + HGNC + 4888 + + + OMIM + 134371 + + + SwissProt + Q03591 + + + Reactome + Q03591 + + + + + 1q31.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20800271[PMID]_22503529[PMID]_23026947[PMID] + + complement factor H related 5 + CFHR5 + + FHR-5 + FHR5 + Factor H related protein 5 + factor H related protein 5 + + + gene with protein product + + + + ClinVar + CFHR5 + + + Ensembl + ENSG00000134389 + + + Genatlas + CFHR5 + + + HGNC + 24668 + + + OMIM + 608593 + + + SwissProt + Q9BXR6 + + + Reactome + Q9BXR6 + + + + + 1q31.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22626820[PMID] + + complement factor H related 3 + CFHR3 + + DOWN16 + FHR-3 + FHR3 + HLF4 + + + gene with protein product + + + + ClinVar + CFHR3 + + + Ensembl + ENSG00000116785 + + + Genatlas + CFHR3 + + + HGNC + 16980 + + + OMIM + 605336 + + + Reactome + Q02985 + + + SwissProt + Q02985 + + + + + 1q31.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 31980588[PMID] + + complement factor H related 2 + CFHR2 + + FHR2 + + + gene with protein product + + + + HGNC + 4890 + + + Ensembl + ENSG00000080910 + + + SwissProt + P36980 + + + OMIM + 600889 + + + Genatlas + CFHR2 + + + Reactome + P36980 + + + ClinVar + CFHR2 + + + + + 1q31.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 329971 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329971 + Generalized juvenile polyposis/juvenile polyposis coli + + Clinical subtype + + + Subtype of disorder + + + + 18823382[PMID] + + bone morphogenetic protein receptor type 1A + BMPR1A + + ALK3 + CD292 + + + gene with protein product + + + + HGNC + 1076 + + + IUPHAR + 1786 + + + OMIM + 601299 + + + Reactome + P36894 + + + SwissProt + P36894 + + + ClinVar + BMPR1A + + + Ensembl + ENSG00000107779 + + + Genatlas + BMPR1A + + + + + 10q23.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 17204053[PMID]_18178612[PMID] + + endoglin + ENG + + CD105 + END + HHT1 + + + gene with protein product + + + + Reactome + P17813 + + + IUPHAR + 2895 + + + ClinVar + ENG + + + Ensembl + ENSG00000106991 + + + Genatlas + ENG + + + HGNC + 3349 + + + OMIM + 131195 + + + SwissProt + P17813 + + + + + 9q34.11 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 18823382[PMID] + + SMAD family member 4 + SMAD4 + + DPC4 + + + gene with protein product + + + + ClinVar + SMAD4 + + + Ensembl + ENSG00000141646 + + + Genatlas + SMAD4 + + + HGNC + 6770 + + + OMIM + 600993 + + + Reactome + Q13485 + + + SwissProt + Q13485 + + + + + 18q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 329967 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329967 + Intermittent hydrarthrosis + + Disease + + + Disorder + + + + 16802374[PMID] + + MEFV innate immunity regulator, pyrin + MEFV + + FMF + TRIM20 + marenostrin + + + gene with protein product + + + + Ensembl + ENSG00000103313 + + + Genatlas + MEFV + + + HGNC + 6998 + + + OMIM + 608107 + + + Reactome + O15553 + + + SwissProt + O15553 + + + ClinVar + MEFV + + + + + 16p13.3 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 22887853[PMID] + + TNF receptor superfamily member 1A + TNFRSF1A + + CD120a + TNF-R + TNF-R-I + TNF-R55 + TNFAR + TNFR60 + + + gene with protein product + + + + IUPHAR + 1870 + + + Ensembl + ENSG00000067182 + + + Genatlas + TNFRSF1A + + + HGNC + 11916 + + + OMIM + 191190 + + + Reactome + P19438 + + + SwissProt + P19438 + + + ClinVar + TNFRSF1A + + + + + 12p13.31 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 329903 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329903 + Immunoglobulin-mediated membranoproliferative glomerulonephritis + + Clinical subtype + + + Subtype of disorder + + + + 21396679[PMID] + + complement factor H + CFH + + ARMD4 + ARMS1 + FHL1 + H factor 2 (complement) + HUS + age-related maculopathy susceptibility 1 + beta-1H + + + gene with protein product + + + + Ensembl + ENSG00000000971 + + + Genatlas + CFH + + + HGNC + 4883 + + + OMIM + 134370 + + + Reactome + P08603 + + + SwissProt + P08603 + + + ClinVar + CFH + + + + + 1q31.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23274426[PMID] + + diacylglycerol kinase epsilon + DGKE + + DAGK6 + DGK + + + gene with protein product + + + + ClinVar + DGKE + + + Ensembl + ENSG00000153933 + + + Genatlas + DGKE + + + HGNC + 2852 + + + OMIM + 601440 + + + Reactome + P52429 + + + SwissProt + P52429 + + + + + 17q22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 329308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329308 + Fatty acid hydroxylase-associated neurodegeneration + + Disease + + + Disorder + + + + 20853438[PMID] + + fatty acid 2-hydroxylase + FA2H + + FAAH + FLJ25287 + fatty acid hydroxylase + Fatty acid alpha-hydroxylase + + + gene with protein product + + + + Ensembl + ENSG00000103089 + + + Genatlas + FA2H + + + HGNC + 21197 + + + OMIM + 611026 + + + Reactome + Q7L5A8 + + + SwissProt + Q7L5A8 + + + ClinVar + FA2H + + + + + 16q23.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 329314 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329314 + Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency + + Disease + + + Disorder + + + + 23043144[PMID] + + deoxyguanosine kinase + DGUOK + + dGK + + + gene with protein product + + + + ClinVar + DGUOK + + + Ensembl + ENSG00000114956 + + + Genatlas + DGUOK + + + HGNC + 2858 + + + OMIM + 601465 + + + Reactome + Q16854 + + + SwissProt + Q16854 + + + + + 2p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 329319 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329319 + Thrombocythemia with distal limb defects + + Disease + + + Disorder + + + + 19553636[PMID] + + thrombopoietin + THPO + + MPL ligand + MPLLG + TPO + c-mpl ligand + megakaryocyte colony-stimulating factor + megakaryocyte growth and development factor + megakaryocyte stimulating factor + myeloproliferative leukemia virus oncogene ligand + prepro-thrombopoietin + thrombopoietin nirs + + + gene with protein product + + + + ClinVar + THPO + + + Ensembl + ENSG00000090534 + + + Genatlas + THPO + + + HGNC + 11795 + + + OMIM + 600044 + + + Reactome + P40225 + + + SwissProt + P40225 + + + + + 3q27.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 329284 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329284 + Beta-propeller protein-associated neurodegeneration + + Disease + + + Disorder + + + + 23435086[PMID] + + WD repeat domain 45 + WDR45 + + JM5 + NBIA5 + WIPI4 + neurodegeneration with brain iron accumulation 5 + + + gene with protein product + + + + ClinVar + WDR45 + + + Genatlas + WDR45 + + + HGNC + 28912 + + + OMIM + 300526 + + + Reactome + Q9Y484 + + + SwissProt + Q9Y484 + + + Ensembl + ENSG00000196998 + + + + + Xp11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 329457 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329457 + Distal arthrogryposis type 5D + + Disease + + + Disorder + + + + 23261301[PMID] + + endothelin converting enzyme like 1 + ECEL1 + + DINE + Damage induced neuronal endopeptidase + XCE + damage induced neuronal endopeptidase + + + gene with protein product + + + + Ensembl + ENSG00000171551 + + + Genatlas + ECEL1 + + + HGNC + 3147 + + + OMIM + 605896 + + + SwissProt + O95672 + + + ClinVar + ECEL1 + + + + + 2q37.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 329466 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329466 + Autosomal dominant focal dystonia, DYT25 type + + Disease + + + Disorder + + + + 23222958[PMID] + + G protein subunit alpha L + GNAL + + + + gene with protein product + + + + Ensembl + ENSG00000141404 + + + Genatlas + GNAL + + + HGNC + 4388 + + + OMIM + 139312 + + + Reactome + P38405 + + + SwissProt + P38405 + + + ClinVar + GNAL + + + + + 18p11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 329469 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329469 + Acute megakaryoblastic leukemia in children without Down syndrome + + Clinical subtype + + + Subtype of disorder + + + + 23153540[PMID] + + GLIS family zinc finger 2 + GLIS2 + + NPHP7 + nephrocystin-7 + Gli-similar 2 + + + gene with protein product + + + + Reactome + Q9BZE0 + + + ClinVar + GLIS2 + + + Ensembl + ENSG00000126603 + + + Genatlas + GLIS2 + + + HGNC + 29450 + + + OMIM + 608539 + + + SwissProt + Q9BZE0 + + + + + 16p13.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 23153540[PMID] + + CBFA2/RUNX1 partner transcriptional co-repressor 3 + CBFA2T3 + + ETO2 + MTG16 + MTGR2 + Myeloid translocation gene 8 and 16b + RUNX1T3 + ZMYND4 + myeloid translocation gene 8 and 16b + + + gene with protein product + + + + Ensembl + ENSG00000129993 + + + Genatlas + CBFA2T3 + + + HGNC + 1537 + + + OMIM + 603870 + + + SwissProt + O75081 + + + ClinVar + CBFA2T3 + + + + + 16q24.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 329336 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329336 + Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy + + Disease + + + Disorder + + + + 23107649[PMID] + + ribonucleotide reductase regulatory TP53 inducible subunit M2B + RRM2B + + p53R2 + + + gene with protein product + + + + Ensembl + ENSG00000048392 + + + Genatlas + RRM2B + + + HGNC + 17296 + + + IUPHAR + 2754 + + + OMIM + 604712 + + + Reactome + Q7LG56 + + + SwissProt + Q7LG56 + + + ClinVar + RRM2B + + + + + 8q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26094573[PMID] + + ribonuclease H1 + RNASEH1 + + RNase H1 + + + gene with protein product + + + + Ensembl + ENSG00000171865 + + + Genatlas + RNASEH1 + + + HGNC + 18466 + + + OMIM + 604123 + + + SwissProt + O60930 + + + ClinVar + RNASEH1 + + + + + 2p25.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 329228 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329228 + Microcephalic primordial dwarfism due to ZNF335 deficiency + + Malformation syndrome + + + Disorder + + + + 23178126[PMID] + + zinc finger protein 335 + ZNF335 + + NRC-interacting factor 1 + bA465L10.2 + NIF-1 + + + gene with protein product + + + + Ensembl + ENSG00000198026 + + + Genatlas + ZNF335 + + + HGNC + 15807 + + + OMIM + 610827 + + + Reactome + Q9H4Z2 + + + SwissProt + Q9H4Z2 + + + ClinVar + ZNF335 + + + + + 20q13.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 329224 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329224 + Schuurs-Hoeijmakers syndrome + + Malformation syndrome + + + Disorder + + + + 23159249[PMID] + + phosphofurin acidic cluster sorting protein 1 + PACS1 + + FLJ10209 + KIAA1175 + + + gene with protein product + + + + SwissProt + Q6VY07 + + + Ensembl + ENSG00000175115 + + + Genatlas + PACS1 + + + HGNC + 30032 + + + OMIM + 607492 + + + Reactome + Q6VY07 + + + ClinVar + PACS1 + + + + + 11q13.1-q13.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 329217 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329217 + Cerebral sinovenous thrombosis + + Disease + + + Disorder + + + + 23073861[PMID]_22645618[PMID]_21350198[PMID]_16175009[PMID]_23927452[PMID]_22716977[PMID] + + coagulation factor II, thrombin + F2 + + prepro-coagulation factor II + + + gene with protein product + + + + ClinVar + F2 + + + Ensembl + ENSG00000180210 + + + Genatlas + F2 + + + HGNC + 3535 + + + IUPHAR + 2362 + + + OMIM + 176930 + + + Reactome + P00734 + + + SwissProt + P00734 + + + + + 11p11.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 23073861[PMID]_22721898[PMID]_21350198[PMID]_10519989[PMID] + + coagulation factor V + F5 + + + + gene with protein product + + + + ClinVar + F5 + + + Ensembl + ENSG00000198734 + + + Genatlas + F5 + + + HGNC + 3542 + + + IUPHAR + 2606 + + + OMIM + 612309 + + + Reactome + P12259 + + + SwissProt + P12259 + + + + + 1q24.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 21350198[PMID]_18677630[PMID]_20416992[PMID] + + protein Z, vitamin K dependent plasma glycoprotein + PROZ + + PZ + + + gene with protein product + + + + Ensembl + ENSG00000126231 + + + Genatlas + PROZ + + + HGNC + 9460 + + + OMIM + 176895 + + + Reactome + P22891 + + + SwissProt + P22891 + + + ClinVar + PROZ + + + + + 13q34 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 329211 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329211 + Autosomal dominant neovascular inflammatory vitreoretinopathy + + Disease + + + Disorder + + + + 23055945[PMID] + + calpain 5 + CAPN5 + + ADNIV + HTRA3 + nCL-3 + + + gene with protein product + + + + Reactome + O15484 + + + Ensembl + ENSG00000149260 + + + Genatlas + CAPN5 + + + HGNC + 1482 + + + OMIM + 602537 + + + SwissProt + O15484 + + + ClinVar + CAPN5 + + + + + 11q13.5 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 329195 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329195 + Developmental delay with autism spectrum disorder and gait instability + + Disease + + + Disorder + + + + 23065719[PMID]_23243086[PMID] + + HECT and RLD domain containing E3 ubiquitin protein ligase 2 + HERC2 + + D15F37S1 + jdf2 + p528 + + + gene with protein product + + + + Ensembl + ENSG00000128731 + + + Genatlas + HERC2 + + + HGNC + 4868 + + + OMIM + 605837 + + + Reactome + O95714 + + + SwissProt + O95714 + + + ClinVar + HERC2 + + + + + 15q13.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 329191 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329191 + Tall stature-long halluces-multiple extra-epiphyses syndrome + + Disease + + + Disorder + + + + 22870295[PMID] + + natriuretic peptide receptor 2 + NPR2 + + ANPb + GUCY2B + guanylate cyclase 2B + guanylyl cyclase B + GC-B + + + gene with protein product + + + + ClinVar + NPR2 + + + IUPHAR + 1748 + + + Ensembl + ENSG00000159899 + + + Genatlas + NPR2 + + + HGNC + 7944 + + + OMIM + 108961 + + + Reactome + P20594 + + + SwissProt + P20594 + + + + + 9p13.3 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 329178 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329178 + Congenital muscular dystrophy with intellectual disability and severe epilepsy + + Disease + + + Disorder + + + + 23109149[PMID] + + dolichyl-phosphate mannosyltransferase subunit 2, regulatory + DPM2 + + DPM synthase complex subunit + MGC111193 + MGC21559 + + + gene with protein product + + + + Genatlas + DPM2 + + + HGNC + 3006 + + + OMIM + 603564 + + + Reactome + O94777 + + + SwissProt + O94777 + + + ClinVar + DPM2 + + + Ensembl + ENSG00000136908 + + + + + 9q34.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 329258 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329258 + Autosomal dominant Charcot-Marie-Tooth disease type 2Q + + Disease + + + Disorder + + + + 23141294[PMID] + + dehydrogenase E1 and transketolase domain containing 1 + DHTKD1 + + OADH-E1 + 2-oxoadipate dehydrogenase complex component E1 + E1a + CMT2Q + DKFZP762M115 + KIAA1630 + MGC3090 + OADC-E1 + + + gene with protein product + + + + Ensembl + ENSG00000181192 + + + Genatlas + DHTKD1 + + + HGNC + 23537 + + + OMIM + 614984 + + + Reactome + Q96HY7 + + + SwissProt + Q96HY7 + + + ClinVar + DHTKD1 + + + + + 10p14 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 329249 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329249 + Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency + + Etiological subtype + + + Subtype of disorder + + + + 23160192[PMID] + + SH2B adaptor protein 1 + SH2B1 + + FLJ30542 + SH2-B homolog + SH2B + + + gene with protein product + + + + HGNC + 30417 + + + OMIM + 608937 + + + Reactome + Q9NRF2 + + + SwissProt + Q9NRF2 + + + ClinVar + SH2B1 + + + Ensembl + ENSG00000178188 + + + Genatlas + SH2B1 + + + + + 16p11.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 329242 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329242 + Congenital chronic diarrhea with protein-losing enteropathy + + Disease + + + Disorder + + + + 29661969[PMID] + + plasmalemma vesicle associated protein + PLVAP + + FELS + fenestrated-endothelial linked structure protein; PV-1 protein + gp68 + PV-1 + PV1 + + + gene with protein product + + + + HGNC + 13635 + + + Ensembl + ENSG00000130300 + + + SwissProt + Q9BX97 + + + OMIM + 607647 + + + Genatlas + PLVAP + + + ClinVar + PLVAP + + + + + 19p13.11 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 23114594[PMID] + + diacylglycerol O-acyltransferase 1 + DGAT1 + + ARGP1 + DGAT + + + gene with protein product + + + + Ensembl + ENSG00000185000 + + + Genatlas + DGAT1 + + + HGNC + 2843 + + + OMIM + 604900 + + + Reactome + O75907 + + + SwissProt + O75907 + + + IUPHAR + 2821 + + + ClinVar + DGAT1 + + + + + 8q24.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 329235 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329235 + X-linked central congenital hypothyroidism with late-onset testicular enlargement + + Disease + + + Disorder + + + + 23143598[PMID] + + immunoglobulin superfamily member 1 + IGSF1 + + IGCD1 + IGDC1 + INHBP + KIAA0364 + MGC75490 + PGSF2 + + + gene with protein product + + + + Ensembl + ENSG00000147255 + + + Genatlas + IGSF1 + + + ClinVar + IGSF1 + + + HGNC + 5948 + + + OMIM + 300137 + + + SwissProt + Q8N6C5 + + + + + Xq26.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 329173 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329173 + Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis + + Disease + + + Disorder + + + + 23104095[PMID] + + RANBP2-type and C3HC4-type zinc finger containing 1 + RBCK1 + + HOIL1 + RBCK2 + RNF54 + UBCE7IP3 + XAP4 + ZRANB4 + heme-oxidized IRP2 ubiquitin ligase 1 + + + gene with protein product + + + + ClinVar + RBCK1 + + + Ensembl + ENSG00000125826 + + + Genatlas + RBCK1 + + + HGNC + 15864 + + + OMIM + 610924 + + + Reactome + Q9BYM8 + + + SwissProt + Q9BYM8 + + + + + 20p13 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 26008899[PMID] + + ring finger protein 31 + RNF31 + + FLJ10111 + FLJ23501 + HOIL-1-interacting protein + HOIP + ZIBRA + Paul + + + gene with protein product + + + + Ensembl + ENSG00000092098 + + + Genatlas + RNF31 + + + HGNC + 16031 + + + OMIM + 612487 + + + Reactome + Q96EP0 + + + SwissProt + Q96EP0 + + + ClinVar + RNF31 + + + + + 14q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329 + Congenital factor XI deficiency + + Disease + + + Disorder + + + + 18312365[PMID]_22159456[PMID] + + coagulation factor XI + F11 + + FXI + plasma thromboplastin antecedent + + + gene with protein product + + + + Ensembl + ENSG00000088926 + + + Genatlas + F11 + + + HGNC + 3529 + + + IUPHAR + 2360 + + + OMIM + 264900 + + + Reactome + P03951 + + + SwissProt + P03951 + + + ClinVar + F11 + + + + + 4q35.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1243 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1243 + Best vitelliform macular dystrophy + + Disease + + + Disorder + + + + 20301346[PMID]_16754206[PMID] + + bestrophin 1 + BEST1 + + BEST + BMD + Best disease + RP50 + + + gene with protein product + + + + ClinVar + BEST1 + + + Ensembl + ENSG00000167995 + + + Genatlas + BEST1 + + + HGNC + 12703 + + + OMIM + 607854 + + + Reactome + O76090 + + + SwissProt + O76090 + + + + + 11q12.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 325524 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325524 + Classic congenital lipoid adrenal hyperplasia due to STAR deficency + + Clinical subtype + + + Subtype of disorder + + + + 20444910[PMID] + + steroidogenic acute regulatory protein + STAR + + STARD1 + StAR + StAR related lipid transfer (START) domain containing 1 + + + gene with protein product + + + + SwissProt + P49675 + + + Ensembl + ENSG00000147465 + + + Genatlas + STAR + + + HGNC + 11359 + + + OMIM + 600617 + + + Reactome + P49675 + + + ClinVar + STAR + + + + + 8p11.23 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 325448 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325448 + Leydig cell hypoplasia due to LHB deficiency + + Clinical subtype + + + Subtype of disorder + + + + + + luteinizing hormone subunit beta + LHB + + CGB4 + LSH-B + hLHB + interstitial cell stimulating hormone, beta chain + luteinizing hormone beta subunit + lutropin, beta chain + + + gene with protein product + + + + ClinVar + LHB + + + Ensembl + ENSG00000104826 + + + Genatlas + LHB + + + HGNC + 6584 + + + OMIM + 152780 + + + Reactome + P01229 + + + SwissProt + P01229 + + + + + 19q13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 325529 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325529 + Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency + + Clinical subtype + + + Subtype of disorder + + + + 20444910[PMID] + + steroidogenic acute regulatory protein + STAR + + STARD1 + StAR + StAR related lipid transfer (START) domain containing 1 + + + gene with protein product + + + + SwissProt + P49675 + + + Ensembl + ENSG00000147465 + + + Genatlas + STAR + + + HGNC + 11359 + + + OMIM + 600617 + + + Reactome + P49675 + + + ClinVar + STAR + + + + + 8p11.23 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 324977 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324977 + Proteasome-associated autoinflammatory syndrome + + Disease + + + Disorder + + + + 21852578[PMID]_21129723[PMID]_21953331[PMID] + + proteasome 20S subunit beta 8 + PSMB8 + + D6S216E + PSMB5i + RING10 + beta5i + proteasome subunit ß5i + + + gene with protein product + + + + ClinVar + PSMB8 + + + Ensembl + ENSG00000204264 + + + Genatlas + PSMB8 + + + HGNC + 9545 + + + IUPHAR + 2408 + + + OMIM + 177046 + + + Reactome + P28062 + + + SwissProt + P28062 + + + + + 6p21.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 324718 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324718 + ABetaA21G amyloidosis + + Clinical subtype + + + Subtype of disorder + + + + 1303239[PMID] + + amyloid beta precursor protein + APP + + peptidase nexin-II + alpha-sAPP + + + gene with protein product + + + + Ensembl + ENSG00000142192 + + + Genatlas + APP + + + HGNC + 620 + + + OMIM + 104760 + + + Reactome + P05067 + + + SwissProt + P05067 + + + ClinVar + APP + + + + + 21q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 324713 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324713 + ABeta amyloidosis, Italian type + + Clinical subtype + + + Subtype of disorder + + + + 20697050[PMID] + + amyloid beta precursor protein + APP + + peptidase nexin-II + alpha-sAPP + + + gene with protein product + + + + Ensembl + ENSG00000142192 + + + Genatlas + APP + + + HGNC + 620 + + + OMIM + 104760 + + + Reactome + P05067 + + + SwissProt + P05067 + + + ClinVar + APP + + + + + 21q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 324737 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324737 + SRD5A3-CDG + + Disease + + + Disorder + + + + 20637498[PMID] + + steroid 5 alpha-reductase 3 + SRD5A3 + + FLJ13352 + SRD5A2L + SRD5A2L1 + polyprenol reductase + 3-oxo-5-alpha-steroid 4-dehydrogenase (NADP(+)) + + + gene with protein product + + + + HGNC + 25812 + + + OMIM + 611715 + + + Reactome + Q9H8P0 + + + SwissProt + Q9H8P0 + + + Ensembl + ENSG00000128039 + + + Genatlas + SRD5A3 + + + ClinVar + SRD5A3 + + + + + 4q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 324723 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324723 + ABeta amyloidosis, Arctic type + + Clinical subtype + + + Subtype of disorder + + + + 18413473[PMID] + + amyloid beta precursor protein + APP + + peptidase nexin-II + alpha-sAPP + + + gene with protein product + + + + Ensembl + ENSG00000142192 + + + Genatlas + APP + + + HGNC + 620 + + + OMIM + 104760 + + + Reactome + P05067 + + + SwissProt + P05067 + + + ClinVar + APP + + + + + 21q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 324708 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324708 + ABeta amyloidosis, Iowa type + + Clinical subtype + + + Subtype of disorder + + + + 12557012[PMID] + + amyloid beta precursor protein + APP + + peptidase nexin-II + alpha-sAPP + + + gene with protein product + + + + Ensembl + ENSG00000142192 + + + Genatlas + APP + + + HGNC + 620 + + + OMIM + 104760 + + + Reactome + P05067 + + + SwissProt + P05067 + + + ClinVar + APP + + + + + 21q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 324703 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324703 + ABetaL34V amyloidosis + + Clinical subtype + + + Subtype of disorder + + + + 16178030[PMID] + + amyloid beta precursor protein + APP + + peptidase nexin-II + alpha-sAPP + + + gene with protein product + + + + Ensembl + ENSG00000142192 + + + Genatlas + APP + + + HGNC + 620 + + + OMIM + 104760 + + + Reactome + P05067 + + + SwissProt + P05067 + + + ClinVar + APP + + + + + 21q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 324611 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324611 + Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation + + Disease + + + Disorder + + + + 21623771[PMID] + + kinesin family member 5A + KIF5A + + D12S1889 + MY050 + NKHC + neuron-specific kinesin heavy chain + + + gene with protein product + + + + ClinVar + KIF5A + + + Reactome + Q12840 + + + SwissProt + Q12840 + + + Ensembl + ENSG00000155980 + + + Genatlas + KIF5A + + + HGNC + 6323 + + + OMIM + 602821 + + + + + 12q13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 324604 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324604 + Classic multiminicore myopathy + + Clinical subtype + + + Subtype of disorder + + + + 12192640[PMID] + + selenoprotein N + SELENON + + RSS + SELN + + + gene with protein product + + + + ClinVar + SEPN1 + + + Ensembl + ENSG00000162430 + + + Genatlas + SEPN1 + + + HGNC + 15999 + + + OMIM + 606210 + + + SwissProt + Q9NZV5 + + + + + 1p36.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24105469[PMID] + + titin + TTN + + CMH9 + CMPD4 + FLJ32040 + LGMD2J + MYLK5 + TMD + + + gene with protein product + + + + Reactome + Q8WZ42 + + + SwissProt + Q8WZ42 + + + ClinVar + TTN + + + Ensembl + ENSG00000155657 + + + Genatlas + TTN + + + HGNC + 12403 + + + IUPHAR + 2265 + + + OMIM + 188840 + + + + + 2q31.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 22784669[PMID] + + myosin heavy chain 7 + MYH7 + + CMD1S + + + gene with protein product + + + + ClinVar + MYH7 + + + OMIM + 160760 + + + Reactome + P12883 + + + SwissProt + P12883 + + + Ensembl + ENSG00000092054 + + + Genatlas + MYH7 + + + HGNC + 7577 + + + + + 14q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 324588 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324588 + Familial dyskinesia and facial myokymia + + Disease + + + Disorder + + + + 22782511[PMID] + + adenylate cyclase 5 + ADCY5 + + AC5 + + + gene with protein product + + + + IUPHAR + 1282 + + + Ensembl + ENSG00000173175 + + + Genatlas + ADCY5 + + + HGNC + 236 + + + OMIM + 600293 + + + Reactome + O95622 + + + SwissProt + O95622 + + + ClinVar + ADCY5 + + + + + 3q21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 324601 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324601 + X-linked cleft palate and ankyloglossia + + Malformation syndrome + + + Disorder + + + + 11559848[PMID]_12374769[PMID]_14729838[PMID] + + T-box transcription factor 22 + TBX22 + + + + gene with protein product + + + + Ensembl + ENSG00000122145 + + + Genatlas + TBX22 + + + HGNC + 11600 + + + OMIM + 300307 + + + SwissProt + Q9Y458 + + + ClinVar + TBX22 + + + + + Xq21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 324581 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324581 + Benign Samaritan congenital myopathy + + Disease + + + Disorder + + + + 22752422[PMID] + + ryanodine receptor 1 + RYR1 + + PPP1R137 + RYR + protein phosphatase 1, regulatory subunit 137 + + + gene with protein product + + + + ClinVar + RYR1 + + + Ensembl + ENSG00000196218 + + + Genatlas + RYR1 + + + HGNC + 10483 + + + IUPHAR + 747 + + + OMIM + 180901 + + + Reactome + P21817 + + + SwissProt + P21817 + + + + + 19q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 324585 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324585 + Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain + + Disease + + + Disorder + + + + 22704856[PMID] + + myelin protein zero + MPZ + + CMT2I + CMT2J + HMSNIB + P0 + + + gene with protein product + + + + ClinVar + MPZ + + + Ensembl + ENSG00000158887 + + + Genatlas + MPZ + + + HGNC + 7225 + + + OMIM + 159440 + + + SwissProt + P25189 + + + + + 1q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 324569 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324569 + Pontocerebellar hypoplasia type 8 + + Malformation syndrome + + + Disorder + + + + 23023333[PMID] + + charged multivesicular body protein 1A + CHMP1A + + VPS46 homolog A (S. cerevisiae) + CHMP1 + KIAA0047 + Vps46A + + + gene with protein product + + + + Ensembl + ENSG00000131165 + + + Genatlas + CHMP1A + + + HGNC + 8740 + + + OMIM + 164010 + + + SwissProt + Q9HD42 + + + Reactome + Q9HD42 + + + ClinVar + CHMP1A + + + + + 16q24.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 324575 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324575 + Hyperinsulinism due to HNF1A deficiency + + Disease + + + Disorder + + + + 22802087[PMID]_25733449[PMID] + + HNF1 homeobox A + HNF1A + + HNF1 + LFB1 + HNF1a + HNF1α + + + gene with protein product + + + + ClinVar + HNF1A + + + Genatlas + HNF1A + + + HGNC + 11621 + + + OMIM + 142410 + + + Reactome + P20823 + + + SwissProt + P20823 + + + Ensembl + ENSG00000135100 + + + + + 12q24.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 324561 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324561 + Hypopigmentation-punctate palmoplantar keratoderma syndrome + + Disease + + + Disorder + + + + 24075184[PMID] + + ectonucleotide pyrophosphatase/phosphodiesterase 1 + ENPP1 + + PC-1 + PCA1 + + + gene with protein product + + + + IUPHAR + 3312 + + + Ensembl + ENSG00000197594 + + + Genatlas + ENPP1 + + + HGNC + 3356 + + + OMIM + 173335 + + + Reactome + P22413 + + + SwissProt + P22413 + + + ClinVar + ENPP1 + + + + + 6q23.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 324530 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324530 + Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation + + Disease + + + Disorder + + + + 23000145[PMID] + + phospholipase C gamma 2 + PLCG2 + + + + gene with protein product + + + + IUPHAR + 1408 + + + Ensembl + ENSG00000197943 + + + Genatlas + PLCG2 + + + HGNC + 9066 + + + OMIM + 600220 + + + Reactome + P16885 + + + SwissProt + P16885 + + + ClinVar + PLCG2 + + + + + 16q24.1 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 324535 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324535 + Combined oxidative phosphorylation defect type 11 + + Disease + + + Disorder + + + + 23022098[PMID]_23022099[PMID] + + required for meiotic nuclear division 1 homolog + RMND1 + + FLJ20627 + RMD1 + bA351K16.3 + + + gene with protein product + + + + OMIM + 614917 + + + SwissProt + Q9NWS8 + + + Ensembl + ENSG00000155906 + + + Genatlas + RMND1 + + + HGNC + 21176 + + + ClinVar + RMND1 + + + + + 6q25.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 324525 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324525 + Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation + + Disease + + + Disorder + + + + 22781753[PMID] + + mitochondrially encoded tRNA-Leu (UUA/G) 1 + MT-TL1 + + TRNL1 + + + Non-coding RNA + + + + Ensembl + ENSG00000209082 + + + Genatlas + MT-TL1 + + + HGNC + 7490 + + + OMIM + 590050 + + + ClinVar + MT-TL1 + + + + + mitochondria + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 324442 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324442 + Autosomal recessive axonal neuropathy with neuromyotonia + + Disease + + + Disorder + + + + 22961002[PMID] + + histidine triad nucleotide binding protein 1 + HINT1 + + PKCI-1 + + + gene with protein product + + + + Ensembl + ENSG00000169567 + + + Genatlas + HINT1 + + + HGNC + 4912 + + + OMIM + 601314 + + + SwissProt + P49773 + + + ClinVar + HINT1 + + + + + 5q23.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 324422 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324422 + ALG13-CDG + + Disease + + + Disorder + + + + 22492991[PMID] + + ALG13 UDP-N-acetylglucosaminyltransferase subunit + ALG13 + + FLJ23018 + MDS031 + N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase + TDRD13 + YGL047W + tudor domain containing 13 + CDG1S + + + gene with protein product + + + + Ensembl + ENSG00000101901 + + + Genatlas + ALG13 + + + HGNC 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CACH3 + CACN4 + Cav1.3 + + + gene with protein product + + + + Ensembl + ENSG00000157388 + + + Genatlas + CACNA1D + + + HGNC + 1391 + + + IUPHAR + 530 + + + OMIM + 114206 + + + Reactome + Q01668 + + + SwissProt + Q01668 + + + ClinVar + CACNA1D + + + + + 3p21.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 324299 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324299 + Multiple paragangliomas associated with polycythemia + + Disease + + + Disorder + + + + 22931260[PMID] + + endothelial PAS domain protein 1 + EPAS1 + + HIF-1 alpha-like factor + HIF2A + HLF + MOP2 + PASD2 + bHLHe73 + + + gene with protein product + + + + IUPHAR + 3148 + + + ClinVar + EPAS1 + + + OMIM + 603349 + + + Reactome + Q99814 + + + SwissProt + Q99814 + + + Ensembl + ENSG00000116016 + + + Genatlas + EPAS1 + + + HGNC + 3374 + + + + + 2p21 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 324294 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324294 + T-cell immunodeficiency with epidermodysplasia verruciformis + + Disease + + + Disorder + + + + 22850876[PMID] + + ras homolog family member H + RHOH + + RhoH + TTF + + + gene with protein product + + + + Ensembl + ENSG00000168421 + + + Genatlas + RHOH + + + HGNC + 686 + + + OMIM + 602037 + + + Reactome + Q15669 + + + SwissProt + Q15669 + + + ClinVar + RHOH + + + + + 4p14 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 324290 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324290 + PRDM8-related progressive myoclonus epilepsy + + Disease + + + Disorder + + + + 22961547[PMID] + + PR/SET domain 8 + PRDM8 + + KMT8D + + + gene with protein product + + + + Ensembl + ENSG00000152784 + + + Genatlas + PRDM8 + + + HGNC + 13993 + + + OMIM + 616639 + + + SwissProt + Q9NQV8 + + + ClinVar + PRDM8 + + + + + 4q21.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 324262 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324262 + Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency + + Clinical subtype + + + Subtype of disorder + + + + 22901947[PMID] + + glutamate metabotropic receptor 1 + GRM1 + + GPRC1A + MGLUR1 + PPP1R85 + mGlu1 + protein phosphatase 1, regulatory subunit 85 + + + gene with protein product + + + + Ensembl + ENSG00000152822 + + + Genatlas + GRM1 + + + HGNC + 4593 + + + IUPHAR + 289 + + + OMIM + 604473 + + + Reactome + Q13255 + + + SwissProt + Q13255 + + + ClinVar + GRM1 + + + + + 6q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 320360 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320360 + MT-ATP6-related mitochondrial spastic paraplegia + + Disease + + + Disorder + + + + 20656066[PMID] + + mitochondrially encoded ATP synthase membrane subunit 6 + MT-ATP6 + + ATP6 + ATPase-6 + Su6m + mitochondrially encoded ATP synthase membrane subunit a + + + gene with protein product + + + + ClinVar + MT-ATP6 + + + Ensembl + ENSG00000198899 + + + Genatlas + MT-ATP6 + + + HGNC + 7414 + + + OMIM + 516060 + + + Reactome + P00846 + + + SwissProt + P00846 + + + IUPHAR + 801 + + + + + mitochondria + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 320355 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320355 + Autosomal dominant spastic paraplegia type 41 + + Disease + + + Disorder + + + + 18364116[PMID] + + spastic paraplegia 41 (autosomal dominant) + SPG41 + + + + Disorder-associated locus + + + + HGNC + 34382 + + + OMIM + 613364 + + + + + 11p14.1-p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 320370 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320370 + Autosomal recessive spastic paraplegia type 43 + + Disease + + + Disorder + + + + 23857908[PMID] + + chromosome 19 open reading frame 12 + C19ORF12 + + membrane protein-associated neurodegeneration + DKFZP762D096 + MGC10922 + NBIA4 + neurodegeneration with brain iron accumulation 4 + MPAN + + + gene with protein product + + + + Ensembl + ENSG00000131943 + + + Genatlas + C19orf12 + + + HGNC + 25443 + + + OMIM + 614297 + + + SwissProt + Q9NSK7 + + + ClinVar + C19orf12 + + + + + 19q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 320365 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320365 + Autosomal dominant spastic paraplegia type 36 + + Disease + + + Disorder + + + + 19357379[PMID] + + spastic paraplegia 36 (autosomal dominant) + SPG36 + + + + Disorder-associated locus + + + + HGNC + 33240 + + + + + 12q23-q24 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 320380 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320380 + Autosomal recessive spastic paraplegia type 54 + + Disease + + + Disorder + + + + 23176823[PMID] + + DDHD domain containing 2 + DDHD2 + + iPLA1gamma + p125B + KIAA0725 + SPG54 + iPLA1γ + iPLA1? + intracellular phospholipase A1 gamma + + + gene with protein product + + + + Reactome + O94830 + + + SwissProt + O94830 + + + Ensembl + ENSG00000085788 + + + Genatlas + DDHD2 + + + HGNC + 29106 + + + OMIM + 615003 + + + ClinVar + DDHD2 + + + + + 8p11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 320375 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320375 + Autosomal recessive spastic paraplegia type 55 + + Disease + + + Disorder + + + + 23188110[PMID] + + mitochondrial translation release factor in rescue + MTRFR + + FLJ38663 + SPG55 + mtRF-R + COXPD7 + + + gene with protein product + + + + Ensembl + ENSG00000130921 + + + Genatlas + C12orf65 + + + HGNC + 26784 + + + OMIM + 613541 + + + SwissProt + Q9H3J6 + + + ClinVar + C12orf65 + + + + + 12q24.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 320391 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320391 + Autosomal recessive spastic paraplegia type 46 + + Disease + + + Disorder + + + + 23332916[PMID] + + glucosylceramidase beta 2 + GBA2 + + AD035 + Bile acid beta-glucosidase + DKFZp762K054 + KIAA1605 + Non-lysosomal glucosylceramidase + bile acid beta-glucosidase + non-lysosomal glucosylceramidase + glucocerebrosidase 2 + + + gene with protein product + + + + HGNC + 18986 + + + OMIM + 609471 + + + Reactome + Q9HCG7 + + + SwissProt + Q9HCG7 + + + Ensembl + ENSG00000070610 + + + Genatlas + GBA2 + + + ClinVar + GBA2 + + + + + 9p13.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 320385 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320385 + Hereditary sensory and autonomic neuropathy due to TECPR2 mutation + + Disease + + + Disorder + + + + 23176824[PMID] + + tectonin beta-propeller repeat containing 2 + TECPR2 + + + + gene with protein product + + + + Ensembl + ENSG00000196663 + + + Genatlas + TECPR2 + + + HGNC + 19957 + + + OMIM + 615000 + + + SwissProt + O15040 + + + ClinVar + TECPR2 + + + + + 14q32.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 320401 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320401 + Autosomal recessive spastic paraplegia type 44 + + Disease + + + Disorder + + + + 19056803[PMID] + + gap junction protein gamma 2 + GJC2 + + CX46.6 + CX47 + SPG44 + connexin 47 + + + gene with protein product + + + + ClinVar + GJC2 + + + Ensembl + ENSG00000198835 + + + Genatlas + GJC2 + + + HGNC + 17494 + + + OMIM + 608803 + + + Reactome + Q5T442 + + + SwissProt + Q5T442 + + + IUPHAR + 731 + + + + + 1q42.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 320396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320396 + Autosomal recessive spastic paraplegia type 45 + + Disease + + + Disorder + + + + 24482476[PMID] + + 5'-nucleotidase, cytosolic II + NT5C2 + + GMP + PNT5 + SPG65 + cN-II + purine 5' nucleotidase + + + gene with protein product + + + + ClinVar + NT5C2 + + + Ensembl + ENSG00000076685 + + + Genatlas + NT5C2 + + + HGNC + 8022 + + + OMIM + 600417 + + + Reactome + P49902 + + + SwissProt + P49902 + + + IUPHAR + 1236 + + + + + 10q24.32-q24.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 320411 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320411 + Autosomal recessive spastic paraplegia type 56 + + Disease + + + Disorder + + + + 23176821[PMID] + + cytochrome P450 family 2 subfamily U member 1 + CYP2U1 + + SPG49 + spastic paraplegia 49 + + + gene with protein product + + + + Ensembl + ENSG00000155016 + + + Genatlas + CYP2U1 + + + HGNC + 20582 + + + OMIM + 610670 + + + Reactome + Q7Z449 + + + SwissProt + Q7Z449 + + + IUPHAR + 1335 + + + ClinVar + CYP2U1 + + + + + 4q25 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 320406 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320406 + Spastic paraplegia-optic atrophy-neuropathy syndrome + + Disease + + + Disorder + + + + 24482476[PMID] + + fibronectin leucine rich transmembrane protein 1 + FLRT1 + + MGC21624 + SPG68 + + + gene with protein product + + + + Reactome + Q9NZU1 + + + Ensembl + ENSG00000126500 + + + Genatlas + FLRT1 + + + HGNC + 3760 + + + OMIM + 604806 + + + SwissProt + Q9NZU1 + + + ClinVar + FLRT1 + + + + + 11q13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26385635[PMID] + + kinesin light chain 2 + KLC2 + + FLJ12387 + + + gene with protein product + + + + Ensembl + ENSG00000174996 + + + Genatlas + KLC2 + + + HGNC + 20716 + + + OMIM + 611729 + + + Reactome + Q9H0B6 + + + SwissProt + Q9H0B6 + + + ClinVar + KLC2 + + + + + 11q13.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 319547 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319547 + Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency + + Disease + + + Disorder + + + + + + interferon gamma receptor 2 + IFNGR2 + + AF-1 + + + gene with protein product + + + + ClinVar + IFNGR2 + + + HGNC + 5440 + + + OMIM + 147569 + + + Reactome + P38484 + + + SwissProt + P38484 + + + IUPHAR + 1726 + + + Ensembl + ENSG00000159128 + + + Genatlas + IFNGR2 + + + + + 21q22.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 319519 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319519 + Combined oxidative phosphorylation defect type 14 + + Disease + + + Disorder + + + + 22499341[PMID] + + phenylalanyl-tRNA synthetase 2, mitochondrial + FARS2 + + mtPheRS + phenylalanine tRNA ligase 2, mitochondrial + Phenylalanine tRNA ligase 2, mitochondrial + dJ236A3.1 + + + gene with protein product + + + + Ensembl + ENSG00000145982 + + + Genatlas + FARS2 + + + HGNC + 21062 + + + OMIM + 611592 + + + Reactome + O95363 + + + SwissProt + O95363 + + + ClinVar + FARS2 + + + + + 6p25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 319524 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319524 + Combined oxidative phosphorylation defect type 15 + + Disease + + + Disorder + + + + 21907147[PMID] + + mitochondrial methionyl-tRNA formyltransferase + MTFMT + + FMT1 + + + gene with protein product + + + + Ensembl + ENSG00000103707 + + + Genatlas + MTFMT + + + HGNC + 29666 + + + OMIM + 611766 + + + Reactome + Q96DP5 + + + SwissProt + Q96DP5 + + + ClinVar + MTFMT + + + + + 15q22.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 319509 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319509 + Combined oxidative phosphorylation defect type 9 + + Disease + + + Disorder + + + + 21786366[PMID] + + mitochondrial ribosomal protein L3 + MRPL3 + + MRL3 + uL3m + + + gene with protein product + + + + Ensembl + ENSG00000114686 + + + Genatlas + MRPL3 + + + HGNC + 10379 + + + OMIM + 607118 + + + Reactome + P09001 + + + SwissProt + P09001 + + + ClinVar + MRPL3 + + + + + 3q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 319514 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319514 + Combined oxidative phosphorylation defect type 13 + + Disease + + + Disorder + + + + 23084291[PMID] + + polyribonucleotide nucleotidyltransferase 1 + PNPT1 + + 3'-5' RNA exonuclease + OLD35 + PNPase + Polynucleotide phosphorylase + old-35 + polynucleotide phosphorylase + + + gene with protein product + + + + ClinVar + PNPT1 + + + Ensembl + ENSG00000138035 + + + Genatlas + PNPT1 + + + HGNC + 23166 + + + OMIM + 610316 + + + SwissProt + Q8TCS8 + + + + + 2p16.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 319589 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319589 + Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency + + Disease + + + Disorder + + + + + + interferon gamma receptor 2 + IFNGR2 + + AF-1 + + + gene with protein product + + + + ClinVar + IFNGR2 + + + HGNC + 5440 + + + OMIM + 147569 + + + Reactome + P38484 + + + SwissProt + P38484 + + + IUPHAR + 1726 + + + Ensembl + ENSG00000159128 + + + Genatlas + IFNGR2 + + + + + 21q22.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 319595 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319595 + Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency + + Disease + + + Disorder + + + + + + signal transducer and activator of transcription 1 + STAT1 + + ISGF-3 + STAT91 + transcription factor ISGF-3 components p91/p84 + + + gene with protein product + + + + Ensembl + ENSG00000115415 + + + Genatlas + STAT1 + + + HGNC + 11362 + + + OMIM + 600555 + + + Reactome + P42224 + + + SwissProt + P42224 + + + ClinVar + STAT1 + + + + + 2q32.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 319574 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319574 + Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency + + Disease + + + Disorder + + + + + + interferon gamma receptor 2 + IFNGR2 + + AF-1 + + + gene with protein product + + + + ClinVar + IFNGR2 + + + HGNC + 5440 + + + OMIM + 147569 + + + Reactome + P38484 + + + SwissProt + P38484 + + + IUPHAR + 1726 + + + Ensembl + ENSG00000159128 + + + Genatlas + IFNGR2 + + + + + 21q22.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 319581 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319581 + Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency + + Disease + + + Disorder + + + + + + interferon gamma receptor 1 + IFNGR1 + + CD119 + + + gene with protein product + + + + ClinVar + IFNGR1 + + + IUPHAR + 1725 + + + Ensembl + ENSG00000027697 + + + Genatlas + IFNGR1 + + + HGNC + 5439 + + + OMIM + 107470 + + + Reactome + P15260 + + + SwissProt + P15260 + + + + + 6q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 319563 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319563 + Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency + + Disease + + + Disorder + + + + 22859821[PMID] + + ISG15 ubiquitin like modifier + ISG15 + + IFI15 + UCRP + + + gene with protein product + + + + Ensembl + ENSG00000187608 + + + Genatlas + ISG15 + + + HGNC + 4053 + + + OMIM + 147571 + + + Reactome + P05161 + + + SwissProt + P05161 + + + ClinVar + ISG15 + + + + + 1p36.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 319569 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319569 + Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency + + Disease + + + Disorder + + + + + + interferon gamma receptor 1 + IFNGR1 + + CD119 + + + gene with protein product + + + + ClinVar + IFNGR1 + + + IUPHAR + 1725 + + + Ensembl + ENSG00000027697 + + + Genatlas + IFNGR1 + + + HGNC + 5439 + + + OMIM + 107470 + + + Reactome + P15260 + + + SwissProt + P15260 + + + + + 6q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 319552 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319552 + Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency + + Disease + + + Disorder + + + + + + interleukin 12 receptor subunit beta 1 + IL12RB1 + + CD212 + + + gene with protein product + + + + Reactome + P42701 + + + ClinVar + IL12RB1 + + + Ensembl + ENSG00000096996 + + + Genatlas + IL12RB1 + + + HGNC + 5971 + + + OMIM + 601604 + + + SwissProt + P42701 + + + IUPHAR + 1715 + + + + + 19p13.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 319558 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319558 + Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency + + Disease + + + Disorder + + + + + + interleukin 12B + IL12B + + CLMF + CLMF2 + IL-12B + IL12, subunit p40 + NKSF + cytotoxic lymphocyte maturation factor 2, p40 + interleukin 12, p40 + interleukin-12 beta chain + natural killer cell stimulatory factor, 40 kD subunit + natural killer cell stimulatory factor-2 + + + gene with protein product + + + + Reactome + P29460 + + + ClinVar + IL12B + + + Genatlas + IL12B + + + HGNC + 5970 + + + OMIM + 161561 + + + SwissProt + P29460 + + + Ensembl + ENSG00000113302 + + + + + 5q33.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 319651 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319651 + Constitutional megaloblastic anemia with severe neurologic disease + + Disease + + + Disorder + + + + 21310276[PMID]_21310277[PMID] + + dihydrofolate reductase + DHFR + + DHFR1 + + + gene with protein product + + + + ClinVar + DHFR + + + HGNC + 2861 + + + IUPHAR + 2603 + + + OMIM + 126060 + + + Reactome + P00374 + + + SwissProt + P00374 + + + Ensembl + ENSG00000228716 + + + Genatlas + DHFR + + + + + 5q14.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 319646 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319646 + PGM1-CDG + + Disease + + + Disorder + + + + 22492991[PMID]_24499211[PMID]_19625727[PMID] + + phosphoglucomutase 1 + PGM1 + + + + gene with protein product + + + + SwissProt + P36871 + + + Ensembl + ENSG00000079739 + + + Genatlas + PGM1 + + + HGNC + 8905 + + + OMIM + 171900 + + + Reactome + P36871 + + + ClinVar + PGM1 + + + + + 1p31.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 319640 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319640 + Retinal macular dystrophy type 2 + + Disease + + + Disorder + + + + 20393116[PMID] + + prominin 1 + PROM1 + + AC133 + CD133 + CORD12 + RP41 + AC133 antigen + Retinitis pigmentosa 41, Cone-rod dystrophy 12 + + + gene with protein product + + + + ClinVar + PROM1 + + + Ensembl + ENSG00000007062 + + + Genatlas + PROM1 + + + HGNC + 9454 + + + OMIM + 604365 + + + SwissProt + O43490 + + + + + 4p15.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 319635 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319635 + Amyloidosis cutis dyschromia + + Disease + + + Disorder + + + + 29336782[PMID] + + glycoprotein nmb + GPNMB + + glycoprotein NMB + glycoprotein nmb-like protein + glycoprotein nonmetastatic melanoma protein B + hematopoietic growth factor inducible neurokinin-1 + HGFIN + NMB + osteoactivin + transmembrane glycoprotein + + + gene with protein product + + + + ClinVar + GPNMB + + + HGNC + 4462 + + + Ensembl + ENSG00000136235 + + + SwissProt + Q14956 + + + OMIM + 604368 + + + Genatlas + GPNMB + + + Reactome + Q14956 + + + + + 7p15.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 319605 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319605 + X-linked mendelian susceptibility to mycobacterial diseases + + Disease + + + Disorder + + + + 21278736[PMID] + + cytochrome b-245 beta chain + CYBB + + NADPH oxidase 2 + GP91-PHOX + NOX2 + GP91PHOX + p91-PHOX + Cytochrome b-245 heavy chain + Cytochrome b558 subunit beta + + + gene with protein product + + + + Ensembl + ENSG00000165168 + + + IUPHAR + 3002 + + + Genatlas + CYBB + + + HGNC + 2578 + + + OMIM + 300481 + + + Reactome + P04839 + + + SwissProt + P04839 + + + ClinVar + CYBB + + + + + Xp21.1-p11.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 319600 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319600 + Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency + + Disease + + + Disorder + + + + + + interferon regulatory factor 8 + IRF8 + + ICSBP + IRF-8 + + + gene with protein product + + + + Ensembl + ENSG00000140968 + + + Genatlas + IRF8 + + + HGNC + 5358 + + + OMIM + 601565 + + + Reactome + Q02556 + + + SwissProt + Q02556 + + + ClinVar + IRF8 + + + + + 16q24.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 319678 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319678 + Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome + + Disease + + + Disorder + + + + 19375058[PMID] + + coenzyme Q9 + COQ9 + + DKFZP434K046 + + + gene with protein product + + + + Reactome + O75208 + + + ClinVar + COQ9 + + + Ensembl + ENSG00000088682 + + + Genatlas + COQ9 + + + HGNC + 25302 + + + OMIM + 612837 + + + SwissProt + O75208 + + + + + 16q21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 31240163[PMID]_28409910[PMID]_26084283[PMID] + + coenzyme Q7, hydroxylase + COQ7 + + CAT5 + CLK-1 + 5-demethoxyubiquinone hydroxylase + + + gene with protein product + + + + OMIM + 601683 + + + Ensembl + ENSG00000167186 + + + SwissProt + Q99807 + + + HGNC + 2244 + + + Genatlas + COQ7 + + + Reactome + Q99807 + + + ClinVar + COQ7 + + + + + 16p12.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 319675 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319675 + Microcephalic primordial dwarfism, Dauber type + + Malformation syndrome + + + Disorder + + + + 22933543[PMID] + + ninein + NIN + + + + gene with protein product + + + + Reactome + Q8N4C6 + + + Ensembl + ENSG00000100503 + + + Genatlas + NIN + + + HGNC + 14906 + + + OMIM + 608684 + + + SwissProt + Q8N4C6 + + + ClinVar + NIN + + + + + 14q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 319671 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319671 + Alazami syndrome + + Malformation syndrome + + + Disorder + + + + 22865833[PMID] + + La ribonucleoprotein 7, transcriptional regulator + LARP7 + + DKFZP564K112 + HDCMA18P + P-TEFb-interaction protein for 7SK stability + PIP7S + + + gene with protein product + + + + Ensembl + ENSG00000174720 + + + Genatlas + LARP7 + + + HGNC + 24912 + + + OMIM + 612026 + + + SwissProt + Q4G0J3 + + + Reactome + Q4G0J3 + + + ClinVar + LARP7 + + + + + 4q25 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 319298 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319298 + Papillary renal cell carcinoma + + Disease + + + Disorder + + + + 26536169[PMID] + + MET proto-oncogene, receptor tyrosine kinase + MET + + DFNB97 + HGFR + RCCP2 + hepatocyte growth factor receptor + + + gene with protein product + + + + Ensembl + ENSG00000105976 + + + Genatlas + MET + + + HGNC + 7029 + + + IUPHAR + 1815 + + + OMIM + 164860 + + + Reactome + P08581 + + + SwissProt + P08581 + + + ClinVar + MET + + + + + 7q31.2 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 22012259[PMID] + + melanocyte inducing transcription factor + MITF + + MI + bHLHe32 + homolog of mouse microphthalmia + + + gene with protein product + + + + Ensembl + ENSG00000187098 + + + Genatlas + MITF + + + HGNC + 7105 + + + OMIM + 156845 + + + Reactome + O75030 + + + SwissProt + O75030 + + + ClinVar + MITF + + + + + 3p13 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 319303 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319303 + Chromophobe renal cell carcinoma + + Disease + + + Disorder + + + + 8620471[PMID]_15649945[PMID] + + HNF1 homeobox A + HNF1A + + HNF1 + LFB1 + HNF1a + HNF1α + + + gene with protein product + + + + ClinVar + HNF1A + + + Genatlas + HNF1A + + + HGNC + 11621 + + + OMIM + 142410 + + + Reactome + P20823 + + + SwissProt + P20823 + + + Ensembl + ENSG00000135100 + + + + + 12q24.31 + 1 + + + + + Biomarker tested in + + + Not yet assessed + + + + + + 319308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319308 + MiT family translocation renal cell carcinoma + + Disease + + + Disorder + + + + 8872474[PMID]_22207547[PMID]_20073616[PMID] + + proline rich mitotic checkpoint control factor + PRCC + + RCCP1 + + + gene with protein product + + + + ClinVar + PRCC + + + Reactome + Q92733 + + + SwissProt + Q92733 + + + Ensembl + ENSG00000143294 + + + Genatlas + PRCC + + + HGNC + 9343 + + + OMIM + 179755 + + + + + 1q23.1 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 23426439[PMID]_22207547[PMID] + + transcription factor binding to IGHM enhancer 3 + TFE3 + + TFEA + bHLHe33 + transcription factor E family, member A + + + gene with protein product + + + + Reactome + P19532 + + + ClinVar + TFE3 + + + Ensembl + ENSG00000068323 + + + Genatlas + TFE3 + + + HGNC + 11752 + + + OMIM + 314310 + + + SwissProt + P19532 + + + + + Xp11.23 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 15992428[PMID]_22207547[PMID]_20073616[PMID] + + ASPSCR1 tether for SLC2A4, UBX domain containing + ASPSCR1 + + Tether containing UBX domain for GLUT4 + TUG + ASPL + ASPS + UBX domain protein 9 + UBXD9 + UBXN9 + + + gene with protein product + + + + OMIM + 606236 + + + Reactome + Q9BZE9 + + + SwissProt + Q9BZE9 + + + ClinVar + ASPSCR1 + + + Ensembl + ENSG00000169696 + + + Genatlas + ASPSCR1 + + + HGNC + 13825 + + + + + 17q25.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 12837690[PMID]_23426439[PMID] + + transcription factor EB + TFEB + + TCFEB + bHLHe35 + + + gene with protein product + + + + ClinVar + TFEB + + + Ensembl + ENSG00000112561 + + + Genatlas + TFEB + + + HGNC + 11753 + + + OMIM + 600744 + + + SwissProt + P19484 + + + + + 6p21.1 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 12917640[PMID]_20073616[PMID] + + clathrin heavy chain + CLTC + + Hc + + + gene with protein product + + + + ClinVar + CLTC + + + Ensembl + ENSG00000141367 + + + Genatlas + CLTC + + + HGNC + 2092 + + + OMIM + 118955 + + + Reactome + Q00610 + + + SwissProt + Q00610 + + + + + 17q23.1 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 9393982[PMID]_20073616[PMID] + + splicing factor proline and glutamine rich + SFPQ + + PPP1R140 + PSF + Polypyrimidine tract binding protein associated + protein phosphatase 1, regulatory subunit 140 + polypyrimidine tract binding protein associated + + + gene with protein product + + + + Reactome + P23246 + + + Ensembl + ENSG00000116560 + + + Genatlas + SFPQ + + + HGNC + 10774 + + + OMIM + 605199 + + + SwissProt + P23246 + + + ClinVar + SFPQ + + + + + 1p34.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 9393982[PMID]_20073616[PMID] + + non-POU domain containing octamer binding + NONO + + NMT55 + NRB54 + Nuclear RNA-binding protein, 54-kD + P54 + P54NRB + PPP1R114 + non-Pou domain-containing octamer (ATGCAAAT) binding protein + protein phosphatase 1, regulatory subunit 114 + + + gene with protein product + + + + Reactome + Q15233 + + + Ensembl + ENSG00000147140 + + + Genatlas + NONO + + + HGNC + 7871 + + + OMIM + 300084 + + + SwissProt + Q15233 + + + ClinVar + NONO + + + + + Xq13.1 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 319332 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319332 + Autosomal recessive myogenic arthrogryposis multiplex congenita + + Disease + + + Disorder + + + + 19542096[PMID] + + spectrin repeat containing nuclear envelope protein 1 + SYNE1 + + 8B + ARCA1 + CPG2 + Enaptin + KIAA0796 + MYNE1 + Nesp1 + Nesprin-1 + SCAR8 + SYNE-1B + dJ45H2.2 + myocyte nuclear envelope protein 1 + nuclear envelope spectrin repeat-1 + enaptin + + + gene with protein product + + + + ClinVar + SYNE1 + + + Ensembl + ENSG00000131018 + + + Genatlas + SYNE1 + + + HGNC + 17089 + + + OMIM + 608441 + + + Reactome + Q8NF91 + + + SwissProt + Q8NF91 + + + + + 6q25.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 319340 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319340 + Carney complex-trismus-pseudocamptodactyly syndrome + + Disease + + + Disorder + + + + 15282353[PMID] + + myosin heavy chain 8 + MYH8 + + MyHC-peri + MyHC-pn + + + gene with protein product + + + + ClinVar + MYH8 + + + Ensembl + ENSG00000133020 + + + Genatlas + MYH8 + + + HGNC + 7578 + + + OMIM + 160741 + + + Reactome + P13535 + + + SwissProt + P13535 + + + + + 17p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 319487 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319487 + Familial papillary or follicular thyroid carcinoma + + Disease + + + Disorder + + + + 11297621[PMID] + + multiple inositol-polyphosphate phosphatase 1 + MINPP1 + + MIPP + + + gene with protein product + + + + HGNC + 7102 + + + Ensembl + ENSG00000107789 + + + OMIM + 605391 + + + Genatlas + MINPP1 + + + Reactome + Q9UNW1 + + + SwissProt + Q9UNW1 + + + ClinVar + MINPP1 + + + + + 10q23.2 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 25381600[PMID] + + forkhead box E1 + FOXE1 + + HFKH4 + TTF-2 + thyroid transcription factor 2 + + + gene with protein product + + + + Ensembl + ENSG00000178919 + + + Genatlas + FOXE1 + + + HGNC + 3806 + + + OMIM + 602617 + + + SwissProt + O00358 + + + ClinVar + FOXE1 + + + + + 9q22.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26222560[PMID] + + hyaluronan binding protein 2 + HABP2 + + FSAP + HABP + HGFAL + PHBP + factor VII activating protein + plasma hyaluronan binding protein + + + gene with protein product + + + + Ensembl + ENSG00000148702 + + + Genatlas + HABP2 + + + HGNC + 4798 + + + OMIM + 603924 + + + SwissProt + Q14520 + + + ClinVar + HABP2 + + + + + 10q25.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 319480 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319480 + Acute myeloid leukemia with CEBPA somatic mutations + + Disease + + + Disorder + + + + 19357394[PMID]_22649106[PMID] + + CCAAT enhancer binding protein alpha + CEBPA + + C/EBP-alpha + + + gene with protein product + + + + Genatlas + CEBPA + + + HGNC + 1833 + + + OMIM + 116897 + + + Reactome + P49715 + + + SwissProt + P49715 + + + Ensembl + ENSG00000245848 + + + ClinVar + CEBPA + + + + + 19q13.11 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 319504 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319504 + Combined oxidative phosphorylation defect type 8 + + Disease + + + Disorder + + + + 21549344[PMID] + + alanyl-tRNA synthetase 2, mitochondrial + AARS2 + + bA444E17.1 + KIAA1270 + alanine tRNA ligase 2, mitochondrial + + + gene with protein product + + + + Ensembl + ENSG00000124608 + + + Genatlas + AARS2 + + + HGNC + 21022 + + + OMIM + 612035 + + + Reactome + Q5JTZ9 + + + SwissProt + Q5JTZ9 + + + ClinVar + AARS2 + + + + + 6p21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 319465 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319465 + Inherited acute myeloid leukemia + + Disease + + + Disorder + + + + 22649106[PMID] + + CCAAT enhancer binding protein alpha + CEBPA + + C/EBP-alpha + + + gene with protein product + + + + Genatlas + CEBPA + + + HGNC + 1833 + + + OMIM + 116897 + + + Reactome + P49715 + + + SwissProt + P49715 + + + Ensembl + ENSG00000245848 + + + ClinVar + CEBPA + + + + + 19q13.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24755948[PMID] + + transglutaminase 6 + TGM6 + + SCA35 + TGY + dJ734P14.3 + spinocerebellar ataxia 35 + protein-glutamine gamma-glutamyltransferase 6 + + + gene with protein product + + + + Genatlas + TGM6 + + + HGNC + 16255 + + + OMIM + 613900 + + + SwissProt + O95932 + + + ClinVar + TGM6 + + + Ensembl + ENSG00000166948 + + + + + 20p13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 30936069[PMID] + + ERCC excision repair 6 like 2 + ERCC6L2 + + FLJ37706 + RAD26L + HEBO + + + gene with protein product + + + + Ensembl + ENSG00000182150 + + + Genatlas + ERCC6L2 + + + HGNC + 26922 + + + OMIM + 615667 + + + SwissProt + Q5T890 + + + ClinVar + ERCC6L2 + + + + + 9q22.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 319462 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319462 + Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations + + Disease + + + Disorder + + + + 15689453[PMID]_16825431[PMID]_14670928[PMID] + + BRCA2 DNA repair associated + BRCA2 + + BRCA1/BRCA2-containing complex, subunit 2 + BRCC2 + FAD + FAD1 + XRCC11 + + + gene with protein product + + + + SwissProt + P51587 + + + Ensembl + ENSG00000139618 + + + Genatlas + BRCA2 + + + HGNC + 1101 + + + OMIM + 600185 + + + Reactome + P51587 + + + ClinVar + BRCA2 + + + + + 13q13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 319199 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319199 + Autosomal recessive spastic paraplegia type 53 + + Disease + + + Disorder + + + + 22717650[PMID] + + VPS37A subunit of ESCRT-I + VPS37A + + FLJ32642 + HCRP1 + SPG53 + hepatocellular carcinoma related protein 1 + + + gene with protein product + + + + Ensembl + ENSG00000155975 + + + Genatlas + VPS37A + + + HGNC + 24928 + + + OMIM + 609927 + + + Reactome + Q8NEZ2 + + + SwissProt + Q8NEZ2 + + + ClinVar + VPS37A + + + + + 8p22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 319160 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319160 + Congenital myopathy with internal nuclei and atypical cores + + Disease + + + Disorder + + + + 22818856[PMID] + + coiled-coil domain containing 78 + CCDC78 + + FLJ34512 + sarcoplasmin + + + gene with protein product + + + + ClinVar + CCDC78 + + + Ensembl + ENSG00000162004 + + + Genatlas + CCDC78 + + + HGNC + 14153 + + + OMIM + 614666 + + + SwissProt + A2IDD5 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 319189 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319189 + Familial cortical myoclonus + + Disease + + + Disorder + + + + 22926851[PMID] + + nucleolar protein 3 + NOL3 + + ARC + CARD2 + MYP + NOP30 + + + gene with protein product + + + + ClinVar + NOL3 + + + Reactome + O60936 + + + Genatlas + NOL3 + + + HGNC + 7869 + + + OMIM + 605235 + + + SwissProt + O60936 + + + Ensembl + ENSG00000140939 + + + + + 16q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 319192 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319192 + Diencephalic-mesencephalic junction dysplasia + + Morphological anomaly + + + Disorder + + + + 31412107[PMID] + + GS homeobox 2 + GSX2 + + Gsh2 + + + gene with protein product + + + + HGNC + 24959 + + + OMIM + 616253 + + + Ensembl + ENSG00000180613 + + + SwissProt + Q9BZM3 + + + + + 4q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 30178464[PMID] + + protocadherin 12 + PCDH12 + + VE-cadherin-2 + + + gene with protein product + + + + HGNC + 8657 + + + Ensembl + ENSG00000113555 + + + SwissProt + Q9NPG4 + + + OMIM + 605622 + + + + + 5q31.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 319182 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319182 + Wiedemann-Steiner syndrome + + Malformation syndrome + + + Disorder + + + + 22795537[PMID] + + lysine methyltransferase 2A + KMT2A + + HTRX + ALL1 + ALL-1 + CXXC7 + HRX + HTRX1 + MLL1A + TRX1 + MLL1 + Histone-lysine N-methyltransferase 2A + + + gene with protein product + + + + ClinVar + KMT2A + + + IUPHAR + 2688 + + + Ensembl + ENSG00000118058 + + + Genatlas + KMT2A + + + HGNC + 7132 + + + OMIM + 159555 + + + Reactome + Q03164 + + + SwissProt + Q03164 + + + + + 11q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 317428 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317428 + Combined immunodeficiency due to ORAI1 deficiency + + Clinical subtype + + + Subtype of disorder + + + + + + ORAI calcium release-activated calcium modulator 1 + ORAI1 + + CRACM1 + FLJ14466 + calcium release-activated calcium modulator 1 + + + gene with protein product + + + + Ensembl + ENSG00000276045 + + + Genatlas + ORAI1 + + + HGNC + 25896 + + + OMIM + 610277 + + + Reactome + Q96D31 + + + SwissProt + Q96D31 + + + IUPHAR + 2964 + + + ClinVar + ORAI1 + + + + + 12q24.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 317425 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317425 + Severe combined immunodeficiency due to DNA-PKcs deficiency + + Disease + + + Disorder + + + + 19823081[PMID] + + protein kinase, DNA-activated, catalytic subunit + PRKDC + + DNA-dependent protein kinase + DNA-PKcs + DNAPK + DNPK1 + XRCC7 + p350 + p460 + DNAPKc + DNA-PKC + DNA-dependent protein kinase catalytic subunit + + + gene with protein product + + + + Ensembl + ENSG00000253729 + + + Genatlas + PRKDC + + + HGNC + 9413 + + + OMIM + 600899 + + + Reactome + P78527 + + + SwissProt + P78527 + + + IUPHAR + 2800 + + + ClinVar + PRKDC + + + + + 8q11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 317430 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317430 + Combined immunodeficiency due to STIM1 deficiency + + Clinical subtype + + + Subtype of disorder + + + + + + stromal interaction molecule 1 + STIM1 + + D11S4896E + GOK + + + gene with protein product + + + + Genatlas + STIM1 + + + HGNC + 11386 + + + OMIM + 605921 + + + Reactome + Q13586 + + + SwissProt + Q13586 + + + Ensembl + ENSG00000167323 + + + ClinVar + STIM1 + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 317473 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317473 + Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency + + Disease + + + Disorder + + + + 21548011[PMID]_26981933[PMID] + + IKAROS family zinc finger 1 + IKZF1 + + Hs.54452 + IKAROS + LyF-1 + PPP1R92 + hIk-1 + protein phosphatase 1, regulatory subunit 92 + + + gene with protein product + + + + OMIM + 603023 + + + SwissProt + Q13422 + + + Ensembl + ENSG00000185811 + + + Genatlas + IKZF1 + + + HGNC + 13176 + + + Reactome + Q13422 + + + ClinVar + IKZF1 + + + + + 7p12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 317476 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317476 + XMEN + + Disease + + + Disorder + + + + + + magnesium transporter 1 + MAGT1 + + SLC58A1 + DKFZp564K142 + IAP + MRX95 + OST3B + oligosaccharyltransferase 3 homolog B (S. cerevisiae) + + + gene with protein product + + + + IUPHAR + 3039 + + + Ensembl + ENSG00000102158 + + + Genatlas + MAGT1 + + + HGNC + 28880 + + + OMIM + 300715 + + + Reactome + Q9H0U3 + + + SwissProt + Q9H0U3 + + + ClinVar + MAGT1 + + + + + Xq21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 315311 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315311 + Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form + + Clinical subtype + + + Subtype of disorder + + + + + + cytochrome P450 family 21 subfamily A member 2 + CYP21A2 + + CA21H + CAH1 + CPS1 + P450c21B + Steroid 21-monooxygenase + + + gene with protein product + + + + ClinVar + CYP21A2 + + + IUPHAR + 1364 + + + Ensembl + ENSG00000231852 + + + Genatlas + CYP21A2 + + + HGNC + 2600 + + + OMIM + 613815 + + + Reactome + P08686 + + + SwissProt + P08686 + + + + + 6p21.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 315306 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315306 + Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form + + Clinical subtype + + + Subtype of disorder + + + + + + cytochrome P450 family 21 subfamily A member 2 + CYP21A2 + + CA21H + CAH1 + CPS1 + P450c21B + Steroid 21-monooxygenase + + + gene with protein product + + + + ClinVar + CYP21A2 + + + IUPHAR + 1364 + + + Ensembl + ENSG00000231852 + + + Genatlas + CYP21A2 + + + HGNC + 2600 + + + OMIM + 613815 + + + Reactome + P08686 + + + SwissProt + P08686 + + + + + 6p21.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 314978 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314978 + X-linked non progressive cerebellar ataxia + + Disease + + + Disorder + + + + + + ATPase plasma membrane Ca2+ transporting 3 + ATP2B3 + + CFAP39 + PMCA3 + Plasma membrane calcium-transporting ATPase 3 + cilia and flagella associated protein 39 + plasma membrane calcium-transporting ATPase 3 + + + gene with protein product + + + + Ensembl + ENSG00000067842 + + + Genatlas + ATP2B3 + + + HGNC + 816 + + + OMIM + 300014 + + + Reactome + Q16720 + + + SwissProt + Q16720 + + + IUPHAR + 845 + + + ClinVar + ATP2B3 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 314950 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314950 + Primary hypereosinophilic syndrome + + Disease + + + Disorder + + + + 22460074[PMID]_24577808[PMID] + + fibroblast growth factor receptor 1 + FGFR1 + + BFGFR + CD331 + CEK + FLG + H2 + H3 + H4 + H5 + N-SAM + Pfeiffer syndrome + + + gene with protein product + + + + Ensembl + ENSG00000077782 + + + Genatlas + FGFR1 + + + HGNC + 3688 + + + IUPHAR + 1808 + + + OMIM + 136350 + + + Reactome + P11362 + + + SwissProt + P11362 + + + ClinVar + FGFR1 + + + + + 8p11.23 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 22460074[PMID]_24577808[PMID] + + factor interacting with PAPOLA and CPSF1 + FIP1L1 + + DKFZp586K0717 + FIP1 + hFip1 + + + gene with protein product + + + + ClinVar + FIP1L1 + + + Ensembl + ENSG00000145216 + + + Genatlas + FIP1L1 + + + HGNC + 19124 + + + OMIM + 607686 + + + Reactome + Q6UN15 + + + SwissProt + Q6UN15 + + + + + 4q12 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 22460074[PMID]_24577808[PMID] + + platelet derived growth factor receptor alpha + PDGFRA + + CD140a + GAS9 + PDGFR2 + + + gene with protein product + + + + Ensembl + ENSG00000134853 + + + Genatlas + PDGFRA + + + HGNC + 8803 + + + IUPHAR + 1803 + + + OMIM + 173490 + + + Reactome + P16234 + + + SwissProt + P16234 + + + ClinVar + PDGFRA + + + + + 4q12 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 22460074[PMID]_24577808[PMID] + + platelet derived growth factor receptor beta + PDGFRB + + CD140b + JTK12 + PDGFR1 + + + gene with protein product + + + + ClinVar + PDGFRB + + + Ensembl + ENSG00000113721 + + + Genatlas + PDGFRB + + + HGNC + 8804 + + + IUPHAR + 1804 + + + OMIM + 173410 + + + Reactome + P09619 + + + SwissProt + P09619 + + + + + 5q32 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 22460074[PMID]_24577808[PMID] + + ETS variant transcription factor 6 + ETV6 + + TEL + TEL oncogene + + + gene with protein product + + + + Reactome + P41212 + + + Ensembl + ENSG00000139083 + + + Genatlas + ETV6 + + + HGNC + 3495 + + + OMIM + 600618 + + + SwissProt + P41212 + + + ClinVar + ETV6 + + + + + 12p13.2 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 314918 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314918 + Mild Canavan disease + + Clinical subtype + + + Subtype of disorder + + + + 20301412[PMID]_21625469[PMID] + + aspartoacylase + ASPA + + ACY2 + ASP + Canavan disease + aminoacylase 2 + “cytosolic aspartoacylase” + “cytosolic aspartoacylase” + + + gene with protein product + + + + ClinVar + ASPA + + + Ensembl + ENSG00000108381 + + + Genatlas + ASPA + + + HGNC + 756 + + + OMIM + 608034 + + + Reactome + P45381 + + + SwissProt + P45381 + + + + + 17p13.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 314911 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314911 + Severe Canavan disease + + Clinical subtype + + + Subtype of disorder + + + + 20301412[PMID]_21625469[PMID] + + aspartoacylase + ASPA + + ACY2 + ASP + Canavan disease + aminoacylase 2 + “cytosolic aspartoacylase” + “cytosolic aspartoacylase” + + + gene with protein product + + + + ClinVar + ASPA + + + Ensembl + ENSG00000108381 + + + Genatlas + ASPA + + + HGNC + 756 + + + OMIM + 608034 + + + Reactome + P45381 + + + SwissProt + P45381 + + + + + 17p13.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 314679 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314679 + Cerebrofacioarticular syndrome + + Malformation syndrome + + + Disorder + + + + 24056717[PMID] + + dachsous cadherin-related 1 + DCHS1 + + CDHR6 + FIB1 + FLJ11790 + KIAA1773 + cadherin-related family member 6 + + + gene with protein product + + + + Ensembl + ENSG00000166341 + + + Genatlas + DCHS1 + + + HGNC + 13681 + + + OMIM + 603057 + + + SwissProt + Q96JQ0 + + + ClinVar + DCHS1 + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24056717[PMID] + + FAT atypical cadherin 4 + FAT4 + + CDHF14 + CDHR11 + FAT-J + cadherin-related family member 11 + + + gene with protein product + + + + HGNC + 23109 + + + OMIM + 612411 + + + SwissProt + Q6V0I7 + + + Ensembl + ENSG00000196159 + + + Genatlas + FAT4 + + + ClinVar + FAT4 + + + + + 4q28.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 314667 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314667 + TMEM165-CDG + + Disease + + + Disorder + + + + 22683087[PMID] + + transmembrane protein 165 + TMEM165 + + GDT1 + TMPT27 + TPA regulated locus + TPARL + SLC64A1 + + + gene with protein product + + + + Ensembl + ENSG00000134851 + + + Genatlas + TMEM165 + + + HGNC + 30760 + + + OMIM + 614726 + + + SwissProt + Q9HC07 + + + ClinVar + TMEM165 + + + IUPHAR + 3050 + + + + + 4q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 314689 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314689 + Combined immunodeficiency due to STK4 deficiency + + Disease + + + Disorder + + + + 22294732[PMID]_22174160[PMID] + + serine/threonine kinase 4 + STK4 + + KRS2 + Kinase responsive to stress 2 + MST1 + Mammalian sterile 20-like 1 + YSK3 + Yeast Ste20-like + yeast Ste20-like + hippo (Drosophila) homolog + kinase responsive to stress 2 + mammalian sterile 20-like 1 + + + gene with protein product + + + + Ensembl + ENSG00000101109 + + + Genatlas + STK4 + + + HGNC + 11408 + + + IUPHAR + 2225 + + + OMIM + 604965 + + + Reactome + Q13043 + + + SwissProt + Q13043 + + + ClinVar + STK4 + + + + + 20q13.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 314652 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314652 + Variant ABeta2M amyloidosis + + Disease + + + Disorder + + + + 22693999[PMID] + + beta-2-microglobulin + B2M + + + + gene with protein product + + + + Ensembl + ENSG00000166710 + + + Genatlas + B2M + + + HGNC + 914 + + + OMIM + 109700 + + + Reactome + P61769 + + + SwissProt + P61769 + + + ClinVar + B2M + + + + + 15q21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 314647 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314647 + Non-progressive cerebellar ataxia with intellectual disability + + Disease + + + Disorder + + + + 22693284[PMID] + + calmodulin binding transcription activator 1 + CAMTA1 + + KIAA0833 + + + gene with protein product + + + + Ensembl + ENSG00000171735 + + + Genatlas + CAMTA1 + + + HGNC + 18806 + + + OMIM + 611501 + + + SwissProt + Q9Y6Y1 + + + ClinVar + CAMTA1 + + + + + 1p36.31-p36.23 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 33783914[PMID] + + POU class 4 homeobox 1 + POU4F1 + + RDC-1 + + + gene with protein product + + + + Ensembl + ENSG00000152192 + + + OMIM + 601632 + + + SwissProt + Q01851 + + + HGNC + 9218 + + + + + 13q31.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 314662 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314662 + Segmental progressive overgrowth syndrome with fibroadipose hyperplasia + + Disease + + + Disorder + + + + 22729222[PMID] + + phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha + PIK3CA + + PI3K + + + gene with protein product + + + + Reactome + P42336 + + + SwissProt + P42336 + + + Ensembl + ENSG00000121879 + + + Genatlas + PIK3CA + + + HGNC + 8975 + + + IUPHAR + 2153 + + + OMIM + 171834 + + + ClinVar + PIK3CA + + + + + 3q26.32 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 314655 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314655 + Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion + + Etiological subtype + + + Subtype of disorder + + + + 23950017[PMID] + + purine rich element binding protein A + PURA + + PUR1 + PURALPHA + PUR-ALPHA + + + gene with protein product + + + + Reactome + Q00577 + + + ClinVar + PURA + + + Ensembl + ENSG00000185129 + + + Genatlas + PURA + + + HGNC + 9701 + + + OMIM + 600473 + + + SwissProt + Q00577 + + + + + 5q31.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 314629 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314629 + CLN11 disease + + Disease + + + Disorder + + + + 32412666[PMID]_34733232[PMID]_34684815[PMID] + + granulin precursor + GRN + + CLN11 + PCDGF + PGRN + progranulin + + + gene with protein product + + + + Reactome + P28799 + + + ClinVar + GRN + + + Ensembl + ENSG00000030582 + + + Genatlas + GRN + + + HGNC + 4601 + + + OMIM + 138945 + + + SwissProt + P28799 + + + + + 17q21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 314637 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314637 + Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency + + Disease + + + Disorder + + + + + + mitochondrial tRNA translation optimization 1 + MTO1 + + + + gene with protein product + + + + Ensembl + ENSG00000135297 + + + Genatlas + MTO1 + + + HGNC + 19261 + + + OMIM + 614667 + + + Reactome + Q9Y2Z2 + + + SwissProt + Q9Y2Z2 + + + ClinVar + MTO1 + + + + + 6q13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 314632 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314632 + CLN12 disease + + Disease + + + Disorder + + + + 22388936[PMID] + + ATPase cation transporting 13A2 + ATP13A2 + + CLN12 + HSA9947 + + + gene with protein product + + + + IUPHAR + 3156 + + + ClinVar + ATP13A2 + + + Ensembl + ENSG00000159363 + + + Genatlas + ATP13A2 + + + HGNC + 30213 + + + OMIM + 610513 + + + Reactome + Q9NQ11 + + + SwissProt + Q9NQ11 + + + + + 1p36.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 314802 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314802 + Short stature due to partial GHR deficiency + + Disease + + + Disorder + + + + + + growth hormone receptor + GHR + + GHBP + growth hormone binding protein + + + gene with protein product + + + + ClinVar + GHR + + + Ensembl + ENSG00000112964 + + + Genatlas + GHR + + + HGNC + 4263 + + + IUPHAR + 1720 + + + OMIM + 600946 + + + Reactome + P10912 + + + SwissProt + P10912 + + + + + 5p13.1-p12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 314811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314811 + Short stature due to GHSR deficiency + + Disease + + + Disorder + + + + + + growth hormone secretagogue receptor + GHSR + + GHS-R1a + GHS-R + GHSR-1a + ghrelin receptor + + + gene with protein product + + + + ClinVar + GHSR + + + Ensembl + ENSG00000121853 + + + Genatlas + GHSR + + + HGNC + 4267 + + + IUPHAR + 246 + + + OMIM + 601898 + + + Reactome + Q92847 + + + SwissProt + Q92847 + + + + + 3q26.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 314777 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314777 + Familial isolated pituitary adenoma + + Disease + + + Disorder + + + + 28413019[PMID] + + cadherin related 23 + CDH23 + + CDHR23 + cadherin-related family member 23 + + + gene with protein product + + + + Ensembl + ENSG00000107736 + + + Genatlas + CDH23 + + + HGNC + 13733 + + + OMIM + 605516 + + + SwissProt + Q9H251 + + + ClinVar + CDH23 + + + + + 10q22.1 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 22720333[PMID] + + AHR interacting HSP90 co-chaperone + AIP + + ARA9 + FKBP16 + XAP2 + aryl hydrocarbon receptor-associated protein 9 + X-associated protein-2 + hepatitis B virus X-associated cellular protein 2 + FKBP37 + FKBP prolyl isomerase 16 + FK506-binding protein 37 + Ah receptor activated 9 + + + gene with protein product + + + + ClinVar + AIP + + + Reactome + O00170 + + + Ensembl + ENSG00000110711 + + + Genatlas + AIP + + + HGNC + 358 + + + OMIM + 605555 + + + SwissProt + O00170 + + + + + 11q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 314786 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314786 + Silent pituitary adenoma + + Histopathological subtype + + + Subtype of disorder + + + + 23321498[PMID] + + menin 1 + MEN1 + + menin + + + gene with protein product + + + + Ensembl + ENSG00000133895 + + + Genatlas + MEN1 + + + HGNC + 7010 + + + OMIM + 613733 + + + Reactome + O00255 + + + SwissProt + O00255 + + + ClinVar + MEN1 + + + + + 11q13 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 23321498[PMID] + + AHR interacting HSP90 co-chaperone + AIP + + ARA9 + FKBP16 + XAP2 + aryl hydrocarbon receptor-associated protein 9 + X-associated protein-2 + hepatitis B virus X-associated cellular protein 2 + FKBP37 + FKBP prolyl isomerase 16 + FK506-binding protein 37 + Ah receptor activated 9 + + + gene with protein product + + + + ClinVar + AIP + + + Reactome + O00170 + + + Ensembl + ENSG00000110711 + + + Genatlas + AIP + + + HGNC + 358 + + + OMIM + 605555 + + + SwissProt + O00170 + + + + + 11q13.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 314790 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314790 + Null pituitary adenoma + + Histopathological subtype + + + Subtype of disorder + + + + 23321498[PMID] + + menin 1 + MEN1 + + menin + + + gene with protein product + + + + Ensembl + ENSG00000133895 + + + Genatlas + MEN1 + + + HGNC + 7010 + + + OMIM + 613733 + + + Reactome + O00255 + + + SwissProt + O00255 + + + ClinVar + MEN1 + + + + + 11q13 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 23321498[PMID] + + AHR interacting HSP90 co-chaperone + AIP + + ARA9 + FKBP16 + XAP2 + aryl hydrocarbon receptor-associated protein 9 + X-associated protein-2 + hepatitis B virus X-associated cellular protein 2 + FKBP37 + FKBP prolyl isomerase 16 + FK506-binding protein 37 + Ah receptor activated 9 + + + gene with protein product + + + + ClinVar + AIP + + + Reactome + O00170 + + + Ensembl + ENSG00000110711 + + + Genatlas + AIP + + + HGNC + 358 + + + OMIM + 605555 + + + SwissProt + O00170 + + + + + 11q13.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 314795 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314795 + SHOX-related short stature + + Disease + + + Disorder + + + + 26698168[PMID] + + SHOX homeobox + SHOX + + GCFX + PHOG + SHOXY + SS + SHOX1 + pseudoautosomal homeobox-containing osteogenic gene + + + gene with protein product + + + + ClinVar + SHOX + + + OMIM + 312865 + + + OMIM + 400020 + + + SwissProt + O15266 + + + Ensembl + ENSG00000185960 + + + Genatlas + SHOX + + + HGNC + 10853 + + + + + Xp22.33 and Yp11.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 314718 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314718 + Lethal arteriopathy syndrome due to fibulin-4 deficiency + + Disease + + + Disorder + + + + 22943132[PMID] + + EGF-like fibulin extracellular matrix protein 2 + EFEMP2 + + FBLN4 + UPH1 + fibulin 4 + + + gene with protein product + + + + Ensembl + ENSG00000172638 + + + Genatlas + EFEMP2 + + + HGNC + 3219 + + + OMIM + 604633 + + + Reactome + O95967 + + + SwissProt + O95967 + + + ClinVar + EFEMP2 + + + + + 11q13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 314721 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314721 + Atypical dentin dysplasia due to SMOC2 deficiency + + Clinical subtype + + + Subtype of disorder + + + + 22152679[PMID] + + SPARC related modular calcium binding 2 + SMOC2 + + SMAP2 + + + gene with protein product + + + + ClinVar + SMOC2 + + + Ensembl + ENSG00000112562 + + + Genatlas + SMOC2 + + + HGNC 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20p11.22-q13.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 370097 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370097 + Oculocutaneous albinism type 6 + + Disease + + + Disorder + + + + 23364476[PMID] + + solute carrier family 24 member 5 + SLC24A5 + + JSX + OCA6 + oculocutaneous albinism 6 (autosomal recessive) + Na/Ca-K exchanger 5 + NCKX5 + + + gene with protein product + + + + Ensembl + ENSG00000188467 + + + Genatlas + SLC24A5 + + + HGNC + 20611 + + + OMIM + 609802 + + + Reactome + Q71RS6 + + + SwissProt + Q71RS6 + + + IUPHAR + 1049 + + + ClinVar + SLC24A5 + + + + + 15q21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 370396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370396 + Small cell carcinoma of the ovary + + Disease + + + Disorder + + + + 24658002[PMID]_24658004[PMID]_24658001[PMID] + + SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 + SMARCA4 + + ATP-dependent helicase SMARCA4 + BAF190 + BRG1 + BRM/SWI2-related gene 1 + FLJ39786 + SNF2 + SNF2-BETA + SNF2-like 4 + SNF2LB + SWI2 + brahma protein-like 1 + global transcription activator homologous sequence + hSNF2b + homeotic gene regulator + mitotic growth and transcription activator + nuclear protein GRB1 + sucrose nonfermenting-like 4 + + + gene with protein product + + + + Ensembl + ENSG00000127616 + + + Genatlas + SMARCA4 + + + HGNC + 11100 + + + IUPHAR + 2740 + + + OMIM + 603254 + + + Reactome + P51532 + + + SwissProt + P51532 + + + ClinVar + SMARCA4 + + + + + 19p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 370348 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370348 + Peripheral primitive neuroectodermal tumor + + Disease + + + Disorder + + + + 7506981[PMID]_8644855[PMID] + + Fli-1 proto-oncogene, ETS transcription factor + FLI1 + + EWSR2 + SIC-1 + FLI-1 + + + gene with protein product + + + + Reactome + Q01543 + + + ClinVar + FLI1 + + + Ensembl + ENSG00000151702 + + + Genatlas + FLI1 + + + HGNC + 3749 + + + OMIM + 193067 + + + SwissProt + Q01543 + + + + + 11q24.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 370334 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370334 + Extraskeletal Ewing sarcoma + + Disease + + + Disorder + + + + 11823984[PMID] + + ETS transcription factor ERG + ERG + + TMPRSS2-ERG prostate cancer specific + erg-3 + p55 + transcriptional regulator ERG (transforming protein ERG) + v-ets erythroblastosis virus E26 oncogene like + ETS-related gene + + + gene with protein product + + + + Reactome + P11308 + + + ClinVar + ERG + + + Ensembl + ENSG00000157554 + + + Genatlas + ERG + + + HGNC + 3446 + + + OMIM + 165080 + + + SwissProt + P11308 + + + + + 21q22.2 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 21113140[PMID] + + EWS RNA binding protein 1 + EWSR1 + + EWS + + + gene with protein product + + + + Reactome + Q01844 + + + Ensembl + ENSG00000182944 + + + Genatlas + EWSR1 + + + HGNC + 3508 + + + OMIM + 133450 + + + SwissProt + Q01844 + + + ClinVar + EWSR1 + + + + + 22q12.2 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 9072004[PMID]_18769338[PMID]_16517542[PMID]_11570916[PMID] + + Fli-1 proto-oncogene, ETS transcription factor + FLI1 + + EWSR2 + SIC-1 + FLI-1 + + + gene with protein product + + + + Reactome + Q01543 + + + ClinVar + FLI1 + + + Ensembl + ENSG00000151702 + + + Genatlas + FLI1 + + + HGNC + 3749 + + + OMIM + 193067 + + + SwissProt + Q01543 + + + + + 11q24.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 21113140[PMID] + + SNF2 related chromatin remodeling ATPase 5 + SMARCA5 + + ISWI + hISWI + hSNF2H + + + gene with protein product + + + + ClinVar + SMARCA5 + + + Ensembl + ENSG00000153147 + + + Genatlas + SMARCA5 + + + HGNC + 11101 + + + OMIM + 603375 + + + Reactome + O60264 + + + SwissProt + O60264 + + + + + 4q31.21 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 370022 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370022 + Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome + + Disease + + + Disorder + + + + 25105227[PMID] + + laminin subunit alpha 1 + LAMA1 + + + + gene with protein product + + + + Ensembl + ENSG00000101680 + + + Genatlas + LAMA1 + + + HGNC + 6481 + + + OMIM + 150320 + + + Reactome + P25391 + + + SwissProt + P25391 + + + ClinVar + LAMA1 + + + + + 18p11.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 370026 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370026 + Acute myeloid leukemia with t(8;16)(p11;p13) translocation + + Disease + + + Disorder + + + + 23974201[PMID]_18698081[PMID] + + CREB binding lysine acetyltransferase + CREBBP + + CBP + KAT3A + RTS + + + gene with protein product + + + + Ensembl + ENSG00000005339 + + + Genatlas + CREBBP + + + HGNC + 2348 + + + IUPHAR + 2734 + + + OMIM + 600140 + + + Reactome + Q92793 + + + ClinVar + CREBBP + + + SwissProt + Q92793 + + + + + 16p13.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 23974201[PMID]_18698081[PMID] + + lysine acetyltransferase 6A + KAT6A + + MOZ + Monocytic leukemia zinc finger protein + ZC2HC6A + + + gene with protein product + + + + Ensembl + ENSG00000083168 + + + Genatlas + KAT6A + + + HGNC + 13013 + + + OMIM + 601408 + + + Reactome + Q92794 + + + SwissProt + Q92794 + + + IUPHAR + 2665 + + + ClinVar + KAT6A + + + + + 8p11.21 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 370015 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370015 + Spondyloepimetaphyseal dysplasia, Isidor-Toutain type + + Disease + + + Disorder + + + + 31630789[PMID] + + ribosomal protein L13 + RPL13 + + D16S444E + BBC1 + L13 + breast basic conserved 1 + eL13 + + + gene with protein product + + + + Ensembl + ENSG00000167526 + + + HGNC + 10303 + + + OMIM + 113703 + + + SwissProt + P26373 + + + Reactome + P26373 + + + + + 16q24.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 370088 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370088 + Acute infantile liver failure-multisystemic involvement syndrome + + Disease + + + Disorder + + + + 22607940[PMID] + + leucyl-tRNA synthetase 1 + LARS1 + + FLJ10595 + FLJ21788 + HSPC192 + LARS1 + LEUS + RNTLS + leucine tRNA ligase 1, cytoplasmic + + + gene with protein product + + + + ClinVar + LARS + + + Ensembl + ENSG00000133706 + + + Genatlas + LARS + + + HGNC + 6512 + + + OMIM + 151350 + + + Reactome + Q9P2J5 + + + SwissProt + Q9P2J5 + + + + + 5q32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 370997 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370997 + Muscle-eye-brain disease with bilateral multicystic leucodystrophy + + Disease + + + Disorder + + + + 24052401[PMID] + + dystroglycan 1 + DAG1 + + 156DAG + A3a + AGRNR + DAG + alpha-dystroglycan + beta-dystroglycan + dystrophin-associated glycoprotein-1 + + + gene with protein product + + + + Ensembl + ENSG00000173402 + + + Genatlas + DAG1 + + + HGNC + 2666 + + + OMIM + 128239 + + + Reactome + Q14118 + + + SwissProt + Q14118 + + + ClinVar + DAG1 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 370921 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370921 + STT3A-CDG + + Disease + + + Disorder + + + + 23842455[PMID] + + STT3 oligosaccharyltransferase complex catalytic subunit A + STT3A + + MGC9042 + STT3-A + TMC + dolichyl-diphosphooligosaccharide protein glycotransferase + + + gene with protein product + + + + ClinVar + STT3A + + + Ensembl + ENSG00000134910 + + + Genatlas + STT3A + + + HGNC + 6172 + + + OMIM + 601134 + + + Reactome + P46977 + + + SwissProt + P46977 + + + + + 11q24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 370924 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370924 + STT3B-CDG + + Disease + + + Disorder + + + + 23842455[PMID] + + STT3 oligosaccharyltransferase complex catalytic subunit B + STT3B + + FLJ90106 + SIMP + STT3-B + dolichyl-diphosphooligosaccharide protein glycotransferase + source of immunodominant MHC associated peptides + Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B + + + gene with protein product + + + + ClinVar + STT3B + + + Ensembl + ENSG00000163527 + + + Genatlas + STT3B + + + HGNC + 30611 + + + OMIM + 608605 + + + SwissProt + Q8TCJ2 + + + + + 3p23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 370927 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370927 + SSR4-CDG + + Disease + + + Disorder + + + + 24218363[PMID] + + signal sequence receptor subunit 4 + SSR4 + + TRAPD + translocon-associated protein delta + + + gene with protein product + + + + ClinVar + SSR4 + + + Ensembl + ENSG00000180879 + + + Genatlas + SSR4 + + + HGNC + 11326 + + + OMIM + 300090 + + + Reactome + P51571 + + + SwissProt + P51571 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 370930 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370930 + XYLT1-CDG + + Disease + + + Disorder + + + + 23982343[PMID] + + xylosyltransferase 1 + XYLT1 + + PXYLT1 + XT-I + protein xylosyltransferase 1 + + + gene with protein product + + + + ClinVar + XYLT1 + + + Ensembl + ENSG00000103489 + + + Genatlas + XYLT1 + + + HGNC + 15516 + + + OMIM + 608124 + + + SwissProt + Q86Y38 + + + Reactome + Q86Y38 + + + + + 16p12.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 370959 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370959 + Congenital muscular dystrophy with cerebellar involvement + + Disease + + + Disorder + + + + 21397493[PMID] + + protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) + POMGNT1 + + FLJ20277 + LGMD2O + MGAT1.2 + protein O-mannose beta-1,2-N-acetylglucosaminyltransferase + + + gene with protein product + + + + Reactome + Q8WZA1 + + + Ensembl + ENSG00000085998 + + + Genatlas + POMGNT1 + + + HGNC + 19139 + + + OMIM + 606822 + + + SwissProt + Q8WZA1 + + + ClinVar + POMGNT1 + + + + + 1p34.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21397493[PMID] + + protein O-mannosyltransferase 1 + POMT1 + + LGMD2K + dolichyl-phosphate-mannose-protein mannosyltransferase + + + gene with protein product + + + + Reactome + Q9Y6A1 + + + ClinVar + POMT1 + + + Ensembl + ENSG00000130714 + + + Genatlas + POMT1 + + + HGNC + 9202 + + + OMIM + 607423 + + + SwissProt + Q9Y6A1 + + + + + 9q34.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21397493[PMID] + + protein O-mannosyltransferase 2 + POMT2 + + Dolichyl-phosphate-mannose--protein mannosyltransferase + LGMD2N + + + gene with protein product + + + + Reactome + Q9UKY4 + + + ClinVar + POMT2 + + + Ensembl + ENSG00000009830 + + + Genatlas + POMT2 + + + HGNC + 19743 + + + OMIM + 607439 + + + SwissProt + Q9UKY4 + + + + + 14q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21397493[PMID] + + fukutin related protein + FKRP + + LGMD2I + MDC1C + Ribitol 5-phosphate transferase + FKTR + + + gene with protein product + + + + ClinVar + FKRP + + + OMIM + 606596 + + + SwissProt + Q9H9S5 + + + Ensembl + ENSG00000181027 + + + Genatlas + FKRP + + + HGNC + 17997 + + + + + 19q13.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24925318[PMID] + + protein O-mannose kinase + POMK + + FLJ23356 + SGK196 + SgK196 + + + gene with protein product + + + + Ensembl + ENSG00000185900 + + + HGNC + 26267 + + + OMIM + 615247 + + + SwissProt + Q9H5K3 + + + Reactome + Q9H5K3 + + + + + 8p11.21 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 23768512[PMID]_21397493[PMID] + + GDP-mannose pyrophosphorylase B + GMPPB + + KIAA1851 + mannose-1-phosphate guanyltransferase beta + + + gene with protein product + + + + Ensembl + ENSG00000173540 + + + Genatlas + GMPPB + + + HGNC + 22932 + + + OMIM + 615320 + + + Reactome + Q9Y5P6 + + + SwissProt + Q9Y5P6 + + + ClinVar + GMPPB + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 370968 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370968 + Congenital muscular dystrophy with intellectual disability + + Disease + + + Disorder + + + + 21397493[PMID] + + protein O-mannosyltransferase 1 + POMT1 + + LGMD2K + dolichyl-phosphate-mannose-protein mannosyltransferase + + + gene with protein product + + + + Reactome + Q9Y6A1 + + + ClinVar + POMT1 + + + Ensembl + ENSG00000130714 + + + Genatlas + POMT1 + + + HGNC + 9202 + + + OMIM + 607423 + + + SwissProt + Q9Y6A1 + + + + + 9q34.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21397493[PMID] + + protein O-mannosyltransferase 2 + POMT2 + + Dolichyl-phosphate-mannose--protein mannosyltransferase + LGMD2N + + + gene with protein product + + + + Reactome + Q9UKY4 + + + ClinVar + POMT2 + + + Ensembl + ENSG00000009830 + + + Genatlas + POMT2 + + + HGNC + 19743 + + + OMIM + 607439 + + + SwissProt + Q9UKY4 + + + + + 14q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21397493[PMID] + + fukutin related protein + FKRP + + LGMD2I + MDC1C + Ribitol 5-phosphate transferase + FKTR + + + gene with protein product + + + + ClinVar + FKRP + + + OMIM + 606596 + + + SwissProt + Q9H9S5 + + + Ensembl + ENSG00000181027 + + + Genatlas + FKRP + + + HGNC + 17997 + + + + + 19q13.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21397493[PMID] + + LARGE xylosyl- and glucuronyltransferase 1 + LARGE1 + + like-acetylglucosaminyltransferase + KIAA0609 + + + gene with protein product + + + + Reactome + O95461 + + + ClinVar + LARGE + + + Ensembl + ENSG00000133424 + + + Genatlas + LARGE + + + HGNC + 6511 + + + OMIM + 603590 + + + SwissProt + O95461 + + + + + 22q12.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23768512[PMID]_21397493[PMID] + + GDP-mannose pyrophosphorylase B + GMPPB + + KIAA1851 + mannose-1-phosphate guanyltransferase beta + + + gene with protein product + + + + Ensembl + ENSG00000173540 + + + Genatlas + GMPPB + + + HGNC + 22932 + + + OMIM + 615320 + + + Reactome + Q9Y5P6 + + + SwissProt + Q9Y5P6 + + + ClinVar + GMPPB + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 370980 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370980 + Congenital muscular dystrophy without intellectual disability + + Disease + + + Disorder + + + + 21397493[PMID] + + protein O-mannosyltransferase 1 + POMT1 + + LGMD2K + dolichyl-phosphate-mannose-protein mannosyltransferase + + + gene with protein product + + + + Reactome + Q9Y6A1 + + + ClinVar + POMT1 + + + Ensembl + ENSG00000130714 + + + Genatlas + POMT1 + + + HGNC + 9202 + + + OMIM + 607423 + + + SwissProt + Q9Y6A1 + + + + + 9q34.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21397493[PMID] + + fukutin + FKTN + + LGMD2M + Ribitol-5-phosphate transferase + + + gene with protein product + + + + ClinVar + FKTN + + + Ensembl + ENSG00000106692 + + + Genatlas + FKTN + + + HGNC + 3622 + + + OMIM + 607440 + + + SwissProt + O75072 + + + + + 9q31.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21397493[PMID] + + fukutin related protein + FKRP + + LGMD2I + MDC1C + Ribitol 5-phosphate transferase + FKTR + + + gene with protein product + + + + ClinVar + FKRP + + + OMIM + 606596 + + + SwissProt + Q9H9S5 + + + Ensembl + ENSG00000181027 + + + Genatlas + FKRP + + + HGNC + 17997 + + + + + 19q13.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23288328[PMID] + + CDP-L-ribitol pyrophosphorylase A + CRPPA + + 4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis) + IspD + Nip + Notch1-induced protein + hCG_1745121 + D-ribitol-5-phosphate cytidylyltransferase + notch1-induced protein + + + gene with protein product + + + + ClinVar + ISPD + + + OMIM + 614631 + + + SwissProt + A4D126 + + + Ensembl + ENSG00000214960 + + + Genatlas + ISPD + + + HGNC + 37276 + + + + + 7p21.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 370933 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370933 + GM3 synthase deficiency + + Disease + + + Disorder + + + + 24026681[PMID]_15502825[PMID] + + ST3 beta-galactoside alpha-2,3-sialyltransferase 5 + ST3GAL5 + + ST3GalV + SIATGM3S + lactosylceramide alpha-2,3-sialyltransferase + ganglioside GM3 synthase + + + gene with protein product + + + + ClinVar + ST3GAL5 + + + Ensembl + ENSG00000115525 + + + Genatlas + ST3GAL5 + + + HGNC + 10872 + + + OMIM + 604402 + + + Reactome + Q9UNP4 + + + SwissProt + Q9UNP4 + + + + + 2p11.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 370943 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370943 + Autism spectrum disorder-epilepsy-arthrogryposis syndrome + + Disease + + + Disorder + + + + 24031089[PMID] + + solute carrier family 35 member A3 + SLC35A3 + + UDP-N-acetylglucosamine transporter + + + gene with protein product + + + + IUPHAR + 1140 + + + Ensembl + ENSG00000117620 + + + Genatlas + SLC35A3 + + + HGNC + 11023 + + + OMIM + 605632 + + + Reactome + Q9Y2D2 + + + SwissProt + Q9Y2D2 + + + ClinVar + SLC35A3 + + + + + 1p21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 369929 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369929 + Primary hyperaldosteronism-seizures-neurological abnormalities syndrome + + Disease + + + Disorder + + + + 23913001[PMID] + + calcium voltage-gated channel subunit alpha1 D + CACNA1D + + CACH3 + CACN4 + Cav1.3 + + + gene with protein product + + + + Ensembl + ENSG00000157388 + + + Genatlas + CACNA1D + + + HGNC + 1391 + + + IUPHAR + 530 + + + OMIM + 114206 + + + Reactome + Q01668 + + + SwissProt + Q01668 + + + ClinVar + CACNA1D + + + + + 3p21.1 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 369920 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369920 + Pontocerebellar hypoplasia type 9 + + Malformation syndrome + + + Disorder + + + + 23911318[PMID] + + adenosine monophosphate deaminase 2 + AMPD2 + + AMPD isoform L + SPG63 + + + gene with protein product + + + + Ensembl + ENSG00000116337 + + + Genatlas + AMPD2 + + + HGNC + 469 + + + OMIM + 102771 + + + Reactome + Q01433 + + + SwissProt + Q01433 + + + ClinVar + AMPD2 + + + + + 1p13.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 369942 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369942 + CADDS + + Disease + + + Disorder + + + + 11992258[PMID]_22994209[PMID] + + ATP binding cassette subfamily D member 1 + ABCD1 + + ALDP + AMN + adrenoleukodystrophy + + + gene with protein product + + + + IUPHAR + 788 + + + ClinVar + ABCD1 + + + Ensembl + ENSG00000101986 + + + Genatlas + ABCD1 + + + HGNC + 61 + + + OMIM + 300371 + + + Reactome + P33897 + + + SwissProt + P33897 + + + + + Xq28 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 22994209[PMID] + + B cell receptor associated protein 31 + BCAP31 + + 6C6-Ag + BAP31 + CDM + DXS1357E + + + gene with protein product + + + + Ensembl + ENSG00000185825 + + + Genatlas + BCAP31 + + + HGNC + 16695 + + + OMIM + 300398 + + + Reactome + P51572 + + + SwissProt + P51572 + + + ClinVar + BCAP31 + + + + + Xq28 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 369939 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369939 + Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome + + Malformation syndrome + + + Disorder + + + + 24011989[PMID] + + B cell receptor associated protein 31 + BCAP31 + + 6C6-Ag + BAP31 + CDM + DXS1357E + + + gene with protein product + + + + Ensembl + ENSG00000185825 + + + Genatlas + BCAP31 + + + HGNC + 16695 + + + OMIM + 300398 + + + Reactome + P51572 + + + SwissProt + P51572 + + + ClinVar + BCAP31 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 369955 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369955 + Methylmalonic acidemia with homocystinuria, type cblJ + + Clinical subtype + + + Subtype of disorder + + + + 22922874[PMID] + + ATP binding cassette subfamily D member 4 + ABCD4 + + Lysosomal cobalamin transporter ABCD4 + EST352188 + P70R + PMP69 + + + gene with protein product + + + + Ensembl + ENSG00000119688 + + + Genatlas + ABCD4 + + + HGNC + 68 + + + OMIM + 603214 + + + Reactome + O14678 + + + SwissProt + O14678 + + + ClinVar + ABCD4 + + + + + 14q24.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 369970 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369970 + Microcornea-myopic chorioretinal atrophy-telecanthus syndrome + + Disease + + + Disorder + + + + 23818446[PMID] + + ADAM metallopeptidase with thrombospondin type 1 motif 18 + ADAMTS18 + + + + gene with protein product + + + + IUPHAR + 1690 + + + ClinVar + ADAMTS18 + + + Ensembl + ENSG00000140873 + + + Genatlas + ADAMTS18 + + + HGNC + 17110 + + + OMIM + 607512 + + + Reactome + Q8TE60 + + + SwissProt + Q8TE60 + + + + + 16q23.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 369962 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369962 + Methylmalonic acidemia with homocystinuria, type cblX + + Clinical subtype + + + Subtype of disorder + + + + 24011988[PMID] + + host cell factor C1 + HCFC1 + + CFF + HCF-1 + HCF1 + MGC70925 + PPP1R89 + VCAF + VP16-accessory protein + protein phosphatase 1, regulatory subunit 89 + + + gene with protein product + + + + Ensembl + ENSG00000172534 + + + Genatlas + HCFC1 + + + HGNC + 4839 + + + OMIM + 300019 + + + Reactome + P51610 + + + SwissProt + P51610 + + + ClinVar + HCFC1 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 369992 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369992 + Severe dermatitis-multiple allergies-metabolic wasting syndrome + + Disease + + + Disorder + + + + 26073755[PMID] + + desmoplakin + DSP + + DP + DPI + DPII + KPPS2 + PPKS2 + + + gene with protein product + + + + ClinVar + DSP + + + Ensembl + ENSG00000096696 + + + Genatlas + DSP + + + HGNC + 3052 + + + OMIM + 125647 + + + Reactome + P15924 + + + SwissProt + P15924 + + + + + 6p24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23974871[PMID] + + desmoglein 1 + DSG1 + + CDHF4 + + + gene with protein product + + + + ClinVar + DSG1 + + + Ensembl + ENSG00000134760 + + + Genatlas + DSG1 + + + HGNC + 3048 + + + OMIM + 125670 + + + Reactome + Q02413 + + + SwissProt + Q02413 + + + + + 18q12.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 370002 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370002 + Focal palmoplantar keratoderma with joint keratoses + + Disease + + + Disorder + + + + 16484817[PMID] + + desmoglein 1 + DSG1 + + CDHF4 + + + gene with protein product + + + + ClinVar + DSG1 + + + Ensembl + ENSG00000134760 + + + Genatlas + DSG1 + + + HGNC + 3048 + + + OMIM + 125670 + + + Reactome + Q02413 + + + SwissProt + Q02413 + + + + + 18q12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 369999 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369999 + Diffuse palmoplantar keratoderma with painful fissures + + Disease + + + Disorder + + + + 15897387[PMID] + + desmoglein 1 + DSG1 + + CDHF4 + + + gene with protein product + + + + ClinVar + DSG1 + + + Ensembl + ENSG00000134760 + + + Genatlas + DSG1 + + + HGNC + 3048 + + + OMIM + 125670 + + + Reactome + Q02413 + + + SwissProt + Q02413 + + + + + 18q12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 369837 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369837 + Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome + + Malformation syndrome + + + Disorder + + + + 23636107[PMID] + + phosphatidylinositol glycan anchor biosynthesis class T + PIGT + + GPI transamidase subunit + PIG-T + GPI transamidase component PIG-T + + + gene with protein product + + + + Ensembl + ENSG00000124155 + + + Genatlas + PIGT + + + HGNC + 14938 + + + OMIM + 610272 + + + Reactome + Q969N2 + + + SwissProt + Q969N2 + + + ClinVar + PIGT + + + + + 20q13.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 369840 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369840 + TRAPPC11-related limb-girdle muscular dystrophy R18 + + Disease + + + Disorder + + + + 23830518[PMID] + + trafficking protein particle complex subunit 11 + TRAPPC11 + + FLJ12716 + foie gras homolog (zebrafish) + foigr + gry + gryzun homolog (Drosophila) + + + gene with protein product + + + + ClinVar + TRAPPC11 + + + Ensembl + ENSG00000168538 + + + Genatlas + TRAPPC11 + + + HGNC + 25751 + + + OMIM + 614138 + + + SwissProt + Q7Z392 + + + Reactome + Q7Z392 + + + + + 4q35.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 369847 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369847 + Intellectual disability-hyperkinetic movement-truncal ataxia syndrome + + Disease + + + Disorder + + + + 23830518[PMID] + + trafficking protein particle complex subunit 11 + TRAPPC11 + + FLJ12716 + foie gras homolog (zebrafish) + foigr + gry + gryzun homolog (Drosophila) + + + gene with protein product + + + + ClinVar + TRAPPC11 + + + Ensembl + ENSG00000168538 + + + Genatlas + TRAPPC11 + + + HGNC + 25751 + + + OMIM + 614138 + + + SwissProt + Q7Z392 + + + Reactome + Q7Z392 + + + + + 4q35.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 369852 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369852 + Congenital neutropenia-myelofibrosis-nephromegaly syndrome + + Disease + + + Disorder + + + + 23738510[PMID] + + vacuolar protein sorting 45 homolog + VPS45 + + H1 + h-vps45 + + + gene with protein product + + + + ClinVar + VPS45 + + + Ensembl + ENSG00000136631 + + + Genatlas + VPS45 + + + HGNC + 14579 + + + OMIM + 610035 + + + Reactome + Q9NRW7 + + + SwissProt + Q9NRW7 + + + + + 1q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 369861 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369861 + Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome + + Disease + + + Disorder + + + + 25193871[PMID] + + tRNA nucleotidyl transferase 1 + TRNT1 + + CCA1 + CGI-47 + MtCCA + CCA-adding enzyme + ATP(CTP):tRNA nucleotidyltransferase + + + gene with protein product + + + + Ensembl + ENSG00000072756 + + + Genatlas + TRNT1 + + + HGNC + 17341 + + + OMIM + 612907 + + + Reactome + Q96Q11 + + + SwissProt + Q96Q11 + + + ClinVar + TRNT1 + + + + + 3p26.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 369867 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369867 + Autosomal recessive intermediate Charcot-Marie-Tooth disease type C + + Disease + + + Disorder + + + + 23844677[PMID]_23777631[PMID] + + pleckstrin homology and RhoGEF domain containing G5 + PLEKHG5 + + GEF720 + KIAA0720 + Syx + Tech + synectin-binding guanine exchange factor + ARHGEF45 + + + gene with protein product + + + + Ensembl + ENSG00000171680 + + + Genatlas + PLEKHG5 + + + HGNC + 29105 + + + ClinVar + PLEKHG5 + + + OMIM + 611101 + + + Reactome + O94827 + + + SwissProt + O94827 + + + + + 1p36.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 369873 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369873 + Obesity due to SIM1 deficiency + + Etiological subtype + + + Subtype of disorder + + + + 23778136[PMID]_23778139[PMID] + + SIM bHLH transcription factor 1 + SIM1 + + bHLHe14 + + + gene with protein product + + + + ClinVar + SIM1 + + + Ensembl + ENSG00000112246 + + + Genatlas + SIM1 + + + HGNC + 10882 + + + OMIM + 603128 + + + SwissProt + P81133 + + + + + 6q16.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 369881 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369881 + 2p21 microdeletion syndrome without cystinuria + + Malformation syndrome + + + Disorder + + + + 23794250[PMID] + + prolyl endopeptidase like + PREPL + + KIAA0436 + + + gene with protein product + + + + IUPHAR + 2870 + + + ClinVar + PREPL + + + Ensembl + ENSG00000138078 + + + Genatlas + PREPL + + + HGNC + 30228 + + + OMIM + 609557 + + + SwissProt + Q4J6C6 + + + + + 2p21 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 23794250[PMID] + + calmodulin-lysine N-methyltransferase + CAMKMT + + CLNMT + CaM KMT + + + gene with protein product + + + + Ensembl + ENSG00000143919 + + + Genatlas + C2orf34 + + + HGNC + 26276 + + + OMIM + 609559 + + + Reactome + Q7Z624 + + + SwissProt + Q7Z624 + + + ClinVar + C2orf34 + + + + + 2p21 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 369891 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369891 + Developmental delay-facial dysmorphism syndrome due to MED13L deficiency + + Malformation syndrome + + + Disorder + + + + 23403903[PMID]_25712080[PMID] + 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Assessed + + + + + + 369913 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369913 + Combined oxidative phosphorylation defect type 17 + + Disease + + + Disorder + + + + 23849775[PMID] + + elaC ribonuclease Z 2 + ELAC2 + + FLJ10530 + HPC2 + tRNase Z (long form) + + + gene with protein product + + + + ClinVar + ELAC2 + + + Reactome + Q9BQ52 + + + SwissProt + Q9BQ52 + + + Ensembl + ENSG00000006744 + + + Genatlas + ELAC2 + + + HGNC + 14198 + + + OMIM + 605367 + + + + + 17p12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 364063 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364063 + Infantile epileptic-dyskinetic encephalopathy + + Disease + + + Disorder + + + + 17664401[PMID] + + aristaless related homeobox + ARX + + CT121 + EIEE1 + ISSX + cancer/testis antigen 121 + + + gene with protein product + + + + ClinVar + ARX + + + SwissProt + Q96QS3 + + + Ensembl + ENSG00000004848 + + + Genatlas + ARX + + + HGNC + 18060 + + + OMIM 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protein product + + + + HGNC + 17754 + + + Ensembl + ENSG00000136114 + + + SwissProt + Q9NS62 + + + Reactome + Q9NS62 + + + OMIM + 616821 + + + + + 13q14.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 30115739[PMID] + + calcitonin receptor like receptor + CALCRL + + CGRPR + CRLR + + + gene with protein product + + + + HGNC + 16709 + + + Ensembl + ENSG00000064989 + + + OMIM + 114190 + + + IUPHAR + 47 + + + SwissProt + Q16602 + + + + + 2q32.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 363989 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363989 + Familial benign flecked retina + + Disease + + + Disorder + + + + 22137173[PMID] + + phospholipase A2 group V + PLA2G5 + + + + gene with protein product + + + + Reactome + P39877 + + + SwissProt + P39877 + + + Ensembl + ENSG00000127472 + + + Genatlas + PLA2G5 + + + HGNC + 9038 + + + OMIM + 601192 + + + IUPHAR + 1430 + + + ClinVar + PLA2G5 + + + + + 1p36.13 + 1 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type II membrane serine protease + membrane-type serine protease 2 + transmembrane serine protease 3 + + + gene with protein product + + + + Ensembl + ENSG00000137648 + + + Genatlas + TMPRSS4 + + + HGNC + 11878 + + + OMIM + 606565 + + + SwissProt + Q9NRS4 + + + ClinVar + TMPRSS4 + + + Reactome + Q9NRS4 + + + + + 11q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 363972 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363972 + Noonan syndrome-like disorder with juvenile myelomonocytic leukemia + + Malformation syndrome + + + Disorder + + + + 20543203[PMID]_20619386[PMID] + + Cbl proto-oncogene + CBL + + RNF55 + c-Cbl + oncogene CBL2 + + + gene with protein product + + + + Ensembl + ENSG00000110395 + + + Genatlas + CBL + + + HGNC + 1541 + + + OMIM + 165360 + + + Reactome + P22681 + + + SwissProt + P22681 + + + ClinVar + CBL + + + + + 11q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 363965 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363965 + Koolen-De Vries syndrome due to a point mutation + + Etiological subtype + + + Subtype of disorder + + + + 22544363[PMID]_22544367[PMID]_20301783[PMID] + + KAT8 regulatory NSL complex subunit 1 + KANSL1 + + CENP-36 + Centromere protein 36 + DKFZP727C091 + MSL1v1 + NSL1 + centromere protein 36 + + + gene with protein product + + + + OMIM + 612452 + + + Reactome + Q7Z3B3 + + + SwissProt + Q7Z3B3 + + + ClinVar + KANSL1 + + + Ensembl + ENSG00000120071 + + + Genatlas + KANSL1 + + + HGNC + 24565 + + + + + 17q21.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 363958 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363958 + 17q21.31 microdeletion syndrome + + Etiological subtype + + + Subtype of disorder + + + + 19447831[PMID] + + KAT8 regulatory NSL complex subunit 1 + KANSL1 + + CENP-36 + Centromere protein 36 + DKFZP727C091 + MSL1v1 + NSL1 + centromere protein 36 + + + gene with protein product + + + + OMIM + 612452 + + + Reactome + Q7Z3B3 + + + SwissProt + Q7Z3B3 + + + ClinVar + KANSL1 + + + Ensembl + ENSG00000120071 + + + Genatlas + KANSL1 + + + HGNC + 24565 + + + + + 17q21.31 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 363727 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363727 + X-linked dyserythropoietic anemia with abnormal platelets and neutropenia + + Disease + + + Disorder + + + + 16783379[PMID] + + GATA binding protein 1 + GATA1 + + ERYF1 + GATA-1 + NF-E1 + NFE1 + nuclear factor, erythroid 1 + + + gene with protein product + + + + ClinVar + GATA1 + + + Ensembl + ENSG00000102145 + + + Genatlas + GATA1 + + + HGNC + 4170 + + + OMIM + 305371 + + + Reactome + P15976 + + + SwissProt + P15976 + + + + + Xp11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 363722 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363722 + Alexander disease type II + + Clinical subtype + + + Subtype of disorder + + + + 20301351[PMID] + + glial fibrillary acidic protein + GFAP + + FLJ45472 + intermediate filament protein + + + gene with protein product + + + + ClinVar + GFAP + + + Ensembl + ENSG00000131095 + + + Genatlas + GFAP + + + HGNC + 4235 + + + OMIM + 137780 + + + Reactome + P14136 + + + SwissProt + P14136 + + + + + 17q21.31 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 363717 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363717 + Alexander disease type I + + Clinical subtype + + + Subtype of disorder + + + + 20301351[PMID] + + glial fibrillary acidic protein + GFAP + + FLJ45472 + intermediate filament protein + + + gene with protein product + + + + ClinVar + GFAP + + + Ensembl + ENSG00000131095 + + + Genatlas + GFAP + + + HGNC + 4235 + + + OMIM + 137780 + + + Reactome + P14136 + + + SwissProt + P14136 + + + + + 17q21.31 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 363710 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363710 + Spinocerebellar ataxia type 37 + + Disease + + + Disorder + + + + 28686858[PMID] + + DAB adaptor protein 1 + DAB1 + + yotari + + + gene with protein product + + + + ClinVar + DAB1 + + + HGNC + 2661 + + + Ensembl + ENSG00000173406 + + + SwissProt + O75553 + + + OMIM + 603448 + + + Genatlas + DAB1 + + + Reactome + O75553 + + + + + 1p32.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23700170[PMID] + + spinocerebellar ataxia 37 + SCA37 + + + + Disorder-associated locus + + + + HGNC + 43726 + + + + + 1p32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 363700 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700 + Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion + + Etiological subtype + + + Subtype of disorder + + + + 20301288[PMID] + + neurofibromin 1 + NF1 + + Watson disease + neurofibromatosis + von Recklinghausen disease + + + gene with protein product + + + + Ensembl + ENSG00000196712 + + + Genatlas + NF1 + + + HGNC + 7765 + + + OMIM + 613113 + + + ClinVar + NF1 + + + Reactome + P21359 + + + SwissProt + P21359 + + + + + 17q11.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 363694 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363694 + Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome + + Disease + + + Disorder + + + + 21255763[PMID] + + seryl-tRNA synthetase 2, mitochondrial + SARS2 + + FLJ20450 + SARS + SERS + SYS + SerRSmt + mtSerRS + serine tRNA ligase 2, mitochondrial + + + gene with protein product + + + + Ensembl + ENSG00000104835 + + + Genatlas + SARS2 + + + HGNC + 17697 + + + OMIM + 612804 + + + Reactome + Q9NP81 + + + SwissProt + Q9NP81 + + + ClinVar + SARS2 + + + + + 19q13.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 363686 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363686 + Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome + + Disease + + + Disorder + + + + 23644463[PMID] + + GATA zinc finger domain containing 2B + GATAD2B + + P66beta + Transcription repressor p66 beta component of the MeCP1 complex + transcription repressor p66 beta component of the MeCP1 complex + + + gene with protein product + + + + Ensembl + ENSG00000143614 + + + Genatlas + GATAD2B + + + HGNC + 30778 + + + OMIM + 614998 + + + Reactome + Q8WXI9 + + + SwissProt + Q8WXI9 + + + ClinVar + GATAD2B + + + + + 1q21.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 363677 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363677 + Childhood-onset autosomal recessive myopathy with external ophthalmoplegia + + Disease + + + Disorder + + + + 23388406[PMID] + + myosin heavy chain 2 + MYH2 + + MYH2A + MYHSA2 + MYHas8 + MyHC-2A + MyHC-IIa + + + gene with protein product + + + + ClinVar + MYH2 + + + Ensembl + ENSG00000125414 + + + Genatlas + MYH2 + + + HGNC + 7572 + + + OMIM + 160740 + + + Reactome + Q9UKX2 + + + SwissProt + Q9UKX2 + + + + + 17p13.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 363417 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417 + Temtamy preaxial brachydactyly syndrome + + Malformation syndrome + + + Disorder + + + + 21129728[PMID] + + chondroitin sulfate synthase 1 + CHSY1 + + CSS1 + KIAA0990 + + + gene with protein product + + + + Ensembl + ENSG00000131873 + + + Genatlas + CHSY1 + + + HGNC + 17198 + + + OMIM + 608183 + + + Reactome + Q86X52 + + + SwissProt + Q86X52 + + + ClinVar + CHSY1 + + + + + 15q26.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 363409 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363409 + Fetal akinesia-cerebral and retinal hemorrhage syndrome + + Disease + + + Disorder + + + + 23092955[PMID] + + dynamin 2 + DNM2 + + CMT2M + CMTDI1 + CMTDIB + DI-CMTB + DYN2 + DYNII + cytoskeletal protein + dynamin II + + + gene with protein product + + + + ClinVar + DNM2 + + + Ensembl + ENSG00000079805 + + + Genatlas + DNM2 + + + HGNC + 2974 + + + OMIM + 602378 + + + Reactome + P50570 + + + SwissProt + P50570 + + + + + 19p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 363412 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363412 + Hypomyelination with brain stem and spinal cord involvement and leg spasticity + + Disease + + + Disorder + + + + 23643384[PMID] + + aspartyl-tRNA synthetase 1 + DARS1 + + aspartate tRNA ligase 1, cytoplasmic + + + gene with protein product + + + + Ensembl + ENSG00000115866 + + + Genatlas + DARS + + + HGNC + 2678 + + + OMIM + 603084 + + + Reactome + P14868 + + + SwissProt + P14868 + + + ClinVar + DARS + + + + + 2q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 363432 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363432 + Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency + + Clinical subtype + + + Subtype of disorder + + + + 23611888[PMID] + + glutamate ionotropic receptor delta type subunit 2 + GRID2 + + GluD2 + GluR-delta-2 + + + gene with protein product + + + + Ensembl + ENSG00000152208 + + + Genatlas + GRID2 + + + HGNC + 4576 + + + IUPHAR + 449 + + + OMIM + 602368 + + + SwissProt + O43424 + + + ClinVar + GRID2 + + + + + 4q22.1-q22.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 363424 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363424 + Multiple mitochondrial dysfunctions syndrome type 3 + + Disease + + + Disorder + + + + 23462291[PMID] + + iron-sulfur cluster assembly factor IBA57 + IBA57 + + FLJ12734 + iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa + + + gene with protein product + + + + Ensembl + ENSG00000181873 + + + Genatlas + IBA57 + + + HGNC + 27302 + + + OMIM + 615316 + + + SwissProt + Q5T440 + + + ClinVar + IBA57 + + + + + 1q42.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 363396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363396 + High myopia-sensorineural deafness syndrome + + Disease + + + Disorder + + + + 23543054[PMID] + + SLIT and NTRK like family member 6 + SLITRK6 + + FLJ22774 + + + gene with protein product + + + + Reactome + Q9H5Y7 + + + ClinVar + SLITRK6 + + + Ensembl + ENSG00000184564 + + + Genatlas + SLITRK6 + + + HGNC + 23503 + + + OMIM + 609681 + + + SwissProt + Q9H5Y7 + + + + + 13q31.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 363400 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363400 + Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome + + Disease + + + Disorder + + + + 23564749[PMID] + + BSCL2 lipid droplet biogenesis associated, seipin + BSCL2 + + seipin + + + gene with protein product + + + + Ensembl + ENSG00000168000 + + + Genatlas + BSCL2 + + + HGNC + 15832 + + + OMIM + 606158 + + + SwissProt + Q96G97 + + + ClinVar + BSCL2 + + + + + 11q12.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 363618 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363618 + LMNA-related cardiocutaneous progeria syndrome + + Disease + + + Disorder + + + + 23666920[PMID] + + lamin A/C + LMNA + + HGPS + MADA + mandibuloacral dysplasia type A + progerin + + + gene with protein product + + + + ClinVar + LMNA + + + Ensembl + ENSG00000160789 + + + Genatlas + LMNA + + + HGNC + 6636 + + + OMIM + 150330 + + + Reactome + P02545 + + + SwissProt + P02545 + + + + + 1q22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 363623 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363623 + GMPPB-related limb-girdle muscular dystrophy R19 + + Disease + + + Disorder + + + + 23768512[PMID] + + GDP-mannose pyrophosphorylase B + GMPPB + + KIAA1851 + mannose-1-phosphate guanyltransferase beta + + + gene with protein product + + + + Ensembl + ENSG00000173540 + + + Genatlas + GMPPB + + + HGNC + 22932 + + + OMIM + 615320 + + + Reactome + Q9Y5P6 + + + SwissProt + Q9Y5P6 + + + ClinVar + GMPPB + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 363649 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363649 + Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome + + Disease + + + Disorder + + + + 23770608[PMID] + + DNA polymerase delta 1, catalytic subunit + POLD1 + + CDC2 + CDC2 homolog (S. cerevisiae) + + + gene with protein product + + + + Ensembl + ENSG00000062822 + + + Genatlas + POLD1 + + + HGNC + 9175 + + + OMIM + 174761 + + + Reactome + P28340 + + + SwissProt + P28340 + + + ClinVar + POLD1 + + + + + 19q13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 363654 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363654 + X-linked parkinsonism-spasticity syndrome + + Disease + + + Disorder + + + + 23595882[PMID] + + ATPase H+ transporting accessory protein 2 + ATP6AP2 + + APT6M8-9 + ATP6M8-9 + M8-9 + PRR + RENR + prorenin receptor + renin receptor + (P)RR + V-ATPase M8.9 subunit + + + gene with protein product + + + + Ensembl + ENSG00000182220 + + + Genatlas + ATP6AP2 + + + HGNC + 18305 + + + OMIM + 300556 + + + Reactome + O75787 + + + SwissProt + O75787 + + + ClinVar + ATP6AP2 + + + + + Xp11.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 363665 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363665 + Acroosteolysis-keloid-like lesions-premature aging syndrome + + Disease + + + Disorder + + + + 26279204[PMID] + + platelet derived growth factor receptor beta + PDGFRB + + CD140b + JTK12 + PDGFR1 + + + gene with protein product + + + + ClinVar + PDGFRB + + + Ensembl + ENSG00000113721 + + + Genatlas + PDGFRB + + + HGNC + 8804 + + + IUPHAR + 1804 + + + OMIM + 173410 + + + Reactome + P09619 + + + SwissProt + P09619 + + + + + 5q32 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 363540 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363540 + Leukoencephalopathy with mild cerebellar ataxia and white matter edema + + Disease + + + Disorder + + + + 23707145[PMID] + + chloride voltage-gated channel 2 + CLCN2 + + CLC2 + ClC-2 + EJM6 + + + gene with protein product + + + + Ensembl + ENSG00000114859 + + + Genatlas + CLCN2 + + + HGNC + 2020 + + + IUPHAR + 699 + + + OMIM + 600570 + + + Reactome + P51788 + + + SwissProt + P51788 + + + ClinVar + CLCN2 + + + + + 3q27.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 363549 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363549 + Acute encephalopathy with biphasic seizures and late reduced diffusion + + Disease + + + Disorder + + + + 23535492[PMID] + + adenosine A2a receptor + ADORA2A + + RDC8 + + + gene with protein product + + + + Ensembl + ENSG00000128271 + + + Genatlas + ADORA2A + + + HGNC + 263 + + + IUPHAR + 19 + + + OMIM + 102776 + + + Reactome + P29274 + + + SwissProt + P29274 + + + ClinVar + ADORA2A + + + + + 22q11.23 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 363611 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363611 + CTCF-related neurodevelopmental disorder + + Disease + + + Disorder + + + + 23746550[PMID] + + CCCTC-binding factor + CTCF + + 11 zinc finger transcriptional repressor + CFAP108 + FAP108 + + + gene with protein product + + + + Ensembl + ENSG00000102974 + + + Genatlas + CTCF + + + HGNC + 13723 + + + OMIM + 604167 + + + Reactome + P49711 + + + SwissProt + P49711 + + + ClinVar + CTCF + + + + + 16q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 363494 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363494 + Non-seminomatous germ cell tumor of testis + + Disease + + + Disorder + + + + 19483682[PMID]_20228134[PMID]_23640991[PMID] + + KIT ligand + KITLG + + SLF + FPH2 + KL-1 + Kitl + SCF + SF + familial progressive hyperpigmentation 2 + mast cell growth factor + steel factor + stem cell factor + DFNA69 + + + gene with protein product + + + + Ensembl + ENSG00000049130 + + + Genatlas + KITLG + + + HGNC + 6343 + + + OMIM + 184745 + + + Reactome + P21583 + + + SwissProt + P21583 + + + ClinVar + KITLG + + + + + 12q21.32 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 19483682[PMID]_23640991[PMID] + + sprouty RTK signaling antagonist 4 + SPRY4 + + + + gene with protein product + + + + ClinVar + SPRY4 + + + Reactome + Q9C004 + + + Ensembl + ENSG00000187678 + + + Genatlas + SPRY4 + + + HGNC + 15533 + + + OMIM + 607984 + + + SwissProt + Q9C004 + + + + + 5q31.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 363523 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363523 + Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome + + Disease + + + Disorder + + + + 23606727[PMID] + + component of oligomeric golgi complex 6 + COG6 + + COD2 + KIAA1134 + + + gene with protein product + + + + Ensembl + ENSG00000133103 + + + Genatlas + COG6 + + + HGNC + 18621 + + + OMIM + 606977 + + + Reactome + Q9Y2V7 + + + SwissProt + Q9Y2V7 + + + ClinVar + COG6 + + + + + 13q14.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 363534 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363534 + Mitochondrial DNA depletion syndrome, hepatocerebrorenal form + + Disease + + + Disorder + + + + 23375728[PMID] + + twinkle mtDNA helicase + TWNK + + FLJ21832 + PEO + PEO1 + T7 helicase-related protein with intramitochondrial nucleoid localization + TWINKLE + TWINL + + + gene with protein product + + + + Ensembl + ENSG00000107815 + + + Genatlas + C10orf2 + + + HGNC + 1160 + + + OMIM + 606075 + + + Reactome + Q96RR1 + + + SwissProt + Q96RR1 + + + ClinVar + C10orf2 + + + + + 10q24.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 363528 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363528 + Intellectual disability-strabismus syndrome + + Disease + + + Disorder + + + + 23620220[PMID] + + adenosine deaminase tRNA specific 3 + ADAT3 + + TAD3 + tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae) + + + gene with protein product + + + + Reactome + Q96EY9 + + + SwissProt + Q96EY9 + + + Ensembl + ENSG00000213638 + + + Genatlas + ADAT3 + + + HGNC + 25151 + + + OMIM + 615302 + + + ClinVar + ADAT3 + + + + + 19p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 363444 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363444 + THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome + + Malformation syndrome + + + Disorder + + + + 23621916[PMID] + + THO complex subunit 6 + THOC6 + + MGC2655 + fSAP35 + functional spliceosome-associated protein 35 + + + gene with protein product + + + + Reactome + Q86W42 + + + ClinVar + THOC6 + + + Ensembl + ENSG00000131652 + + + Genatlas + THOC6 + + + HGNC + 28369 + + + OMIM + 615403 + + + SwissProt + Q86W42 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 363454 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363454 + BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy + + Etiological subtype + + + Subtype of disorder + + + + 23664119[PMID] + + BICD cargo adaptor 2 + BICD2 + + KIAA0699 + + + gene with protein product + + + + Reactome + Q8TD16 + + + Ensembl + ENSG00000185963 + + + Genatlas + BICD2 + + + HGNC + 17208 + + + OMIM + 609797 + + + SwissProt + Q8TD16 + + + ClinVar + BICD2 + + + + + 9q22.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 357329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357329 + Combined immunodeficiency due to IL21R deficiency + + Disease + + + Disorder + + + + 23440042[PMID] + + interleukin 21 receptor + IL21R + + CD360 + + + gene with protein product + + + + IUPHAR + 1703 + + + Ensembl + ENSG00000103522 + + + Genatlas + IL21R + + + HGNC + 6006 + + + OMIM + 605383 + + + SwissProt + Q9HBE5 + + + ClinVar + IL21R + + + + + 16p12.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 357237 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357237 + Combined immunodeficiency due to CARD11 deficiency + + Disease + + + Disorder + + + + 23561803[PMID]_23374270[PMID] + + caspase recruitment domain family member 11 + CARD11 + + BIMP3 + CARMA1 + bcl10-interacting maguk protein 3 + card-maguk protein 1 + + + gene with protein product + + + + ClinVar + CARD11 + + + Ensembl + ENSG00000198286 + + + Genatlas + CARD11 + + + HGNC + 16393 + + + OMIM + 607210 + + + Reactome + Q9BXL7 + + + SwissProt + Q9BXL7 + + + + + 7p22.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 356978 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356978 + D,L-2-hydroxyglutaric aciduria + + Disease + + + Disorder + + + + 23561848[PMID]_23393310[PMID] + + solute carrier family 25 member 1 + SLC25A1 + + Tricarboxylate transport protein, mitochondrial + citrate transport protein + CTP + CIC + citrate isocitrate carrier + + + gene with protein product + + + + Genatlas + SLC25A1 + + + HGNC + 10979 + + + OMIM + 190315 + + + Reactome + P53007 + + + SwissProt + P53007 + + + ClinVar + SLC25A1 + + + IUPHAR + 1051 + + + Ensembl + ENSG00000100075 + + + + + 22q11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 356961 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356961 + SLC35A2-CDG + + Disease + + + Disorder + + + + 23561849[PMID] + + solute carrier family 35 member A2 + SLC35A2 + + UGAT + UGT + UGT1 + UGT2 + UGTL + UDP-Gal-Tr + UDP-galactose translocator + + + gene with protein product + + + + ClinVar + SLC35A2 + + + IUPHAR + 1139 + + + Ensembl + ENSG00000102100 + + + Genatlas + SLC35A2 + + + HGNC + 11022 + + + OMIM + 314375 + + + Reactome + P78381 + + + SwissProt + P78381 + + + + + Xp11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 357008 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357008 + Hemolytic uremic syndrome with DGKE deficiency + + Disease + + + Disorder + + + + 23542698[PMID]_20301541[PMID] + + diacylglycerol kinase epsilon + DGKE + + DAGK6 + DGK + + + gene with protein product + + + + ClinVar + DGKE + + + Ensembl + ENSG00000153933 + + + Genatlas + DGKE + + + HGNC + 2852 + + + OMIM + 601440 + + + Reactome + P52429 + + + SwissProt + P52429 + + + + + 17q22 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 356996 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356996 + ANK3-related intellectual disability-sleep disturbance syndrome + + Disease + + + Disorder + + + + 23390136[PMID] + + ankyrin 3 + ANK3 + + ankyrin-3, node of Ranvier + ankyrin-G + + + gene with protein product + + + + Ensembl + ENSG00000151150 + + + Genatlas + ANK3 + + + HGNC + 494 + + + OMIM + 600465 + + + Reactome + Q12955 + + + SwissProt + Q12955 + + + ClinVar + ANK3 + + + + + 10q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 357043 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357043 + Amyotrophic lateral sclerosis type 4 + + Disease + + + Disorder + + + + 15106121[PMID]_15478096[PMID] + + senataxin + SETX + + Sen1 + AOA2 + KIAA0625 + STEX + + + gene with protein product + + + + ClinVar + SETX + + + OMIM + 608465 + + + SwissProt + Q7Z333 + + + Ensembl + ENSG00000107290 + + + Genatlas + SETX + + + HGNC + 445 + + + Reactome + Q7Z333 + + + + + 9q34.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 357034 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357034 + Non-hereditary retinoblastoma + + Clinical subtype + + + Subtype of disorder + + + + 23498719[PMID]_23498780[PMID]_16934146[PMID] + + RB transcriptional corepressor 1 + RB1 + + PPP1R130 + RB + prepro-retinoblastoma-associated protein + protein phosphatase 1, regulatory subunit 130 + + + gene with protein product + + + + ClinVar + RB1 + + + SwissProt + P06400 + + + Ensembl + ENSG00000139687 + + + Genatlas + RB1 + + + HGNC + 9884 + + + OMIM + 614041 + + + Reactome + P06400 + + + + + 13q14.2 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 23498719[PMID]_23498720[PMID] + + MYCN proto-oncogene, bHLH transcription factor + MYCN + + MYCNOT + N-myc + bHLHe37 + + + gene with protein product + + + + Reactome + P04198 + + + ClinVar + MYCN + + + OMIM + 164840 + + + SwissProt + P04198 + + + Ensembl + ENSG00000134323 + + + Genatlas + MYCN + + + HGNC + 7559 + + + + + 2p24.3 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 357027 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357027 + Hereditary retinoblastoma + + Clinical subtype + + + Subtype of disorder + + + + 20301625[PMID]_23498719[PMID]_23498780[PMID]_16934146[PMID] + + RB transcriptional corepressor 1 + RB1 + + PPP1R130 + RB + prepro-retinoblastoma-associated protein + protein phosphatase 1, regulatory subunit 130 + + + gene with protein product + + + + ClinVar + RB1 + + + SwissProt + P06400 + + + Ensembl + ENSG00000139687 + + + Genatlas + RB1 + + + HGNC + 9884 + + + OMIM + 614041 + + + Reactome + P06400 + + + + + 13q14.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 23498719[PMID]_23498720[PMID] + + MYCN proto-oncogene, bHLH transcription factor + MYCN + + MYCNOT + N-myc + bHLHe37 + + + gene with protein product + + + + Reactome + P04198 + + + ClinVar + MYCN + + + OMIM + 164840 + + + SwissProt + P04198 + + + Ensembl + ENSG00000134323 + + + Genatlas + MYCN + + + HGNC + 7559 + + + + + 2p24.3 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 357074 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074 + Autosomal recessive cutis laxa type 2, classic type + + Clinical subtype + + + Subtype of disorder + + + + 28065471[PMID] + + ATPase H+ transporting V1 subunit E1 + ATP6V1E1 + + ATP6E2 + P31 + Vma4 + V-ATPase subunit E1 + + + gene with protein product + + + + IUPHAR + 816 + + + ClinVar + ATP6V1E1 + + + HGNC + 857 + + + Ensembl + ENSG00000131100 + + + SwissProt + P36543 + + + OMIM + 108746 + + + Genatlas + ATP6V1E1 + + + Reactome + R-HSA-912606 + + + + + 22q11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 28065471[PMID] + + ATPase H+ transporting V1 subunit A + ATP6V1A + + VA68 + Vma1 + V-ATPase subunit A + V-type proton ATPase (V-ATPase) catalytic subunit A + + + gene with protein product + + + + HGNC + 851 + + + Ensembl + ENSG00000114573 + + + OMIM + 607027 + + + Genatlas + ATP6V1A + + + Reactome + P38606 + + + SwissProt + P38606 + + + IUPHAR + 810 + + + ClinVar + ATP6V1A + + + + + 3q13.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301755[PMID]_19321599[PMID]_18157129[PMID] + + ATPase H+ transporting V0 subunit a2 + ATP6V0A2 + + ATP6N1D + ATP6a2 + J6B7 + Stv1 + TJ6 + TJ6M + TJ6s + Vph1 + a2 + V-ATPase subunit a2 + V-type proton ATPase 116 kDa subunit a2 + regeneration and tolerance factor + a2V + RTF + + + gene with protein product + + + + ClinVar + ATP6V0A2 + + + Reactome + Q9Y487 + + + SwissProt + Q9Y487 + + + Ensembl + ENSG00000185344 + + + Genatlas + ATP6V0A2 + + + HGNC + 18481 + + + OMIM + 611716 + + + IUPHAR + 824 + + + + + 12q24.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 357064 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357064 + Autosomal recessive cutis laxa type 2B + + Disease + + + Disorder + + + + 19576563[PMID] + + pyrroline-5-carboxylate reductase 1 + PYCR1 + + P5C + + + gene with protein product + + + + Ensembl + ENSG00000183010 + + + Genatlas + PYCR1 + + + HGNC + 9721 + + + OMIM + 179035 + + + Reactome + P32322 + + + SwissProt + P32322 + + + ClinVar + PYCR1 + + + + + 17q25.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 352654 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352654 + Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome + + Disease + + + Disorder + + + + 23359680[PMID] + + ubiquitin C-terminal hydrolase L1 + UCHL1 + + PGP9.5 + Uch-L1 + ubiquitin thiolesterase + UCHL-1 + + + gene with protein product + + + + Reactome + P09936 + + + Ensembl + ENSG00000154277 + + + Genatlas + UCHL1 + + + HGNC + 12513 + + + IUPHAR + 2426 + + + OMIM + 191342 + + + SwissProt + P09936 + + + ClinVar + UCHL1 + + + + + 4p13 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 352662 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352662 + Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome + + Disease + + + Disorder + + + + 23349227[PMID] + + NLR family pyrin domain containing 1 + NLRP1 + + CARD7 + CLR17.1 + DEFCAP + DKFZp586O1822 + KIAA0926 + NAC + VAMAS1 + nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1 + + + gene with protein product + + + + IUPHAR + 1768 + + + ClinVar + NLRP1 + + + Ensembl + ENSG00000091592 + + + Genatlas + NLRP1 + + + HGNC + 14374 + + + OMIM + 606636 + + + Reactome + Q9C000 + + + SwissProt + Q9C000 + + + + + 17p13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 352641 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352641 + Autosomal recessive cerebellar ataxia with late-onset spasticity + + Disease + + + Disorder + + + + 23332917[PMID] + + glucosylceramidase beta 2 + GBA2 + + AD035 + Bile acid beta-glucosidase + DKFZp762K054 + KIAA1605 + Non-lysosomal glucosylceramidase + bile acid beta-glucosidase + non-lysosomal glucosylceramidase + glucocerebrosidase 2 + + + gene with protein product + + + + HGNC + 18986 + + + OMIM + 609471 + + + Reactome + Q9HCG7 + + + SwissProt + Q9HCG7 + + + Ensembl + ENSG00000070610 + + + Genatlas + GBA2 + + + ClinVar + GBA2 + + + + + 9p13.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 352649 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352649 + Brain dopamine-serotonin vesicular transport disease + + Disease + + + Disorder + + + + 23363473[PMID] + + solute carrier family 18 member A2 + SLC18A2 + + VAT2 + SVAT + SVMT + Synaptic vesicular amine transporter + + + gene with protein product + + + + ClinVar + SLC18A2 + + + Ensembl + ENSG00000165646 + + + Genatlas + SLC18A2 + + + HGNC + 10935 + + + IUPHAR + 1012 + + + OMIM + 193001 + + + Reactome + Q05940 + + + SwissProt + Q05940 + + + + + 10q25.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 352596 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352596 + Progressive myoclonic epilepsy with dystonia + + Disease + + + Disorder + + + + 21087195[PMID]_23343562[PMID] + + TBC1 domain family member 24 + TBC1D24 + + DFNA65 + KIAA1171 + TBC/LysM-associated domain containing 6 + TLDC6 + skywalker homolog (Drosophila) + deafness, autosomal dominant 65 + + + gene with protein product + + + + ClinVar + TBC1D24 + + + Reactome + Q9ULP9 + + + Ensembl + ENSG00000162065 + + + Genatlas + TBC1D24 + + + HGNC + 29203 + + + OMIM + 613577 + + + SwissProt + Q9ULP9 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 352577 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352577 + Bainbridge-Ropers syndrome + + Disease + + + Disorder + + + + 23383720[PMID] + + ASXL transcriptional regulator 3 + ASXL3 + + + + gene with protein product + + + + ClinVar + ASXL3 + + + Ensembl + ENSG00000141431 + + + Genatlas + ASXL3 + + + HGNC + 29357 + + + OMIM + 615115 + + + SwissProt + Q9C0F0 + + + + + 18q12.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 352587 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352587 + Focal epilepsy-intellectual disability-cerebro-cerebellar malformation + + Disease + + + Disorder + + + + 23517570[PMID] + + TBC1 domain family member 24 + TBC1D24 + + DFNA65 + KIAA1171 + TBC/LysM-associated domain containing 6 + TLDC6 + skywalker homolog (Drosophila) + deafness, autosomal dominant 65 + + + gene with protein product + + + + ClinVar + TBC1D24 + + + Reactome + Q9ULP9 + + + Ensembl + ENSG00000162065 + + + Genatlas + TBC1D24 + + + HGNC + 29203 + + + OMIM + 613577 + + + SwissProt + Q9ULP9 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 352582 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352582 + Familial infantile myoclonic epilepsy + + Disease + + + Disorder + + + + 28422131[PMID] + + complexin 1 + CPLX1 + + CPX-I + + + gene with protein product + + + + HGNC + 2309 + + + Ensembl + ENSG00000168993 + + + SwissProt + O14810 + + + OMIM + 605032 + + + Genatlas + CPLX1 + + + Reactome + O14810 + + + ClinVar + CPLX1 + + + + + 4p16.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20727515[PMID] + + TBC1 domain family member 24 + TBC1D24 + + DFNA65 + KIAA1171 + TBC/LysM-associated domain containing 6 + TLDC6 + skywalker homolog (Drosophila) + deafness, autosomal dominant 65 + + + gene with protein product + + + + ClinVar + TBC1D24 + + + Reactome + Q9ULP9 + + + Ensembl + ENSG00000162065 + + + Genatlas + TBC1D24 + + + HGNC + 29203 + + + OMIM + 613577 + + + SwissProt + Q9ULP9 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 29726066[PMID] + + sodium voltage-gated channel alpha subunit 8 + SCN8A + + CIAT + CerIII + NaCh6 + Nav1.6 + PN4 + + + gene with protein product + + + + Ensembl + ENSG00000196876 + + + Genatlas + SCN8A + + + HGNC + 10596 + + + IUPHAR + 583 + + + OMIM + 600702 + + + Reactome + Q9UQD0 + + + SwissProt + Q9UQD0 + + + ClinVar + SCN8A + + + + + 12q13.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 352734 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352734 + Minimal pigment oculocutaneous albinism type 1 + + Clinical subtype + + + Subtype of disorder + + + + 20301345[PMID] + + tyrosinase + TYR + + OCA1 + OCA1A + OCAIA + oculocutaneous albinism IA + + + gene with protein product + + + + Ensembl + ENSG00000077498 + + + Genatlas + TYR + + + HGNC + 12442 + + + IUPHAR + 2643 + + + OMIM + 606933 + + + Reactome + P14679 + + + SwissProt + P14679 + + + ClinVar + TYR + + + + + 11q14.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 352737 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352737 + Temperature-sensitive oculocutaneous albinism type 1 + + Clinical subtype + + + Subtype of disorder + + + + 20301345[PMID] + + tyrosinase + TYR + + OCA1 + OCA1A + OCAIA + oculocutaneous albinism IA + + + gene with protein product + + + + Ensembl + ENSG00000077498 + + + Genatlas + TYR + + + HGNC + 12442 + + + IUPHAR + 2643 + + + OMIM + 606933 + + + Reactome + P14679 + + + SwissProt + P14679 + + + ClinVar + TYR + + + + + 11q14.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 352709 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352709 + CLN13 disease + + Disease + + + Disorder + + + + 21990111[PMID]_22778232[PMID] + + cathepsin F + CTSF + + CLN13 + CATSF + + + gene with protein product + + + + ClinVar + CTSF + + + Ensembl + ENSG00000174080 + + + Genatlas + CTSF + + + HGNC + 2531 + + + IUPHAR + 2347 + + + OMIM + 603539 + + + Reactome + Q9UBX1 + + + SwissProt + Q9UBX1 + + + + + 11q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 352712 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352712 + Facial dysmorphism-immunodeficiency-livedo-short stature syndrome + + Disease + + + Disorder + + + + 23230001[PMID] + + DNA polymerase epsilon, catalytic subunit + POLE + + DNA polymerase epsilon catalytic subunit A + POLE1 + + + gene with protein product + + + + ClinVar + POLE + + + OMIM + 174762 + + + Reactome + Q07864 + + + SwissProt + Q07864 + + + Ensembl + ENSG00000177084 + + + Genatlas + POLE + + + HGNC + 9177 + + + + + 12q24.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 352718 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352718 + Progressive retinal dystrophy due to retinol transport defect + + Disease + + + Disorder + + + + 23189188[PMID] + + retinol binding protein 4 + RBP4 + + + + gene with protein product + + + + IUPHAR + 2549 + + + ClinVar + RBP4 + + + Ensembl + ENSG00000138207 + + + Genatlas + RBP4 + + + HGNC + 9922 + + + OMIM + 180250 + + + Reactome + P02753 + + + SwissProt + P02753 + + + + + 10q23.33 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 352723 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352723 + Attenuated Chédiak-Higashi syndrome + + Disease + + + Disorder + + + + 23521865[PMID] + + lysosomal trafficking regulator + LYST + + CHS + Mauve + + + gene with protein product + + + + ClinVar + LYST + + + Ensembl + ENSG00000143669 + + + Genatlas + LYST + + + HGNC + 1968 + + + OMIM + 606897 + + + SwissProt + Q99698 + + + + + 1q42.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 352665 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352665 + Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion + + Etiological subtype + + + Subtype of disorder + + + + 26173930[PMID]_24501764[PMID]_25348648[PMID] + + heterogeneous nuclear ribonucleoprotein K + HNRNPK + + CSBP + transformation upregulated nuclear protein + TUNP + + + gene with protein product + + + + HGNC + 5044 + + + OMIM + 600712 + + + Genatlas + HNRNPK + + + SwissProt + P61978 + + + Reactome + P61978 + + + Ensembl + ENSG00000165119 + + + ClinVar + HNRNPK + + + + + 9q21.32 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 352670 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352670 + Autosomal dominant intermediate Charcot-Marie-Tooth disease type F + + Disease + + + Disorder + + + + 23434117[PMID] + + G protein subunit beta 4 + GNB4 + + Guanine nucleotide-binding protein subunit beta-4 + transducin beta chain 4 + + + gene with protein product + + + + ClinVar + GNB4 + + + Ensembl + ENSG00000114450 + + + Genatlas + GNB4 + + + HGNC + 20731 + + + OMIM + 610863 + + + Reactome + Q9HAV0 + + + SwissProt + Q9HAV0 + + + + + 3q26.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 352675 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352675 + X-linked Charcot-Marie-Tooth disease type 6 + + Disease + + + Disorder + + + + 23297365[PMID] + + pyruvate dehydrogenase kinase 3 + PDK3 + + + + gene with protein product + + + + ClinVar + PDK3 + + + HGNC + 8811 + + + IUPHAR + 2143 + + + OMIM + 300906 + + + Reactome + Q15120 + + + SwissProt + Q15120 + + + Ensembl + ENSG00000067992 + + + Genatlas + PDK3 + + + + + Xp22.11 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 352682 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352682 + Cobblestone lissencephaly without muscular or ocular involvement + + Disease + + + Disorder + + + + 23472759[PMID] + + laminin subunit beta 1 + LAMB1 + + + + gene with protein product + + + + ClinVar + LAMB1 + + + Ensembl + ENSG00000091136 + + + Genatlas + LAMB1 + + + HGNC + 6486 + + + OMIM + 150240 + + + Reactome + P07942 + + + SwissProt + P07942 + + + + + 7q31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 27773428[PMID]_ 28973161[PMID]_33293961[PMID] + + transmembrane O-mannosyltransferase targeting cadherins 3 + TMTC3 + + FLJ90492 + SMILE + + + gene with protein product + + + + ClinVar + TMTC3 + + + SwissProt + Q6ZXV5 + + + HGNC + 26899 + + + Ensembl + ENSG00000139324 + + + OMIM + 617218 + + + Genatlas + TMTC3 + + + Reactome + Q6ZXV5 + + + + + 12q21.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 353277 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277 + Rubinstein-Taybi syndrome due to CREBBP mutations + + Etiological subtype + + + Subtype of disorder + + + + 20301699[PMID] + + CREB binding lysine acetyltransferase + CREBBP + + CBP + KAT3A + RTS + + + gene with protein product + + + + Ensembl + ENSG00000005339 + + + Genatlas + CREBBP + + + HGNC + 2348 + + + IUPHAR + 2734 + + + OMIM + 600140 + + + Reactome + Q92793 + + + ClinVar + CREBBP + + + SwissProt + Q92793 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 353220 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353220 + Familial primary localized cutaneous amyloidosis + + Disease + + + Disorder + + + + 20507362[PMID] + + oncostatin M receptor + OSMR + + OSMRbeta + OSMRB + Oncostatin-M-specific receptor subunit beta + + + gene with protein product + + + + Reactome + Q99650 + + + SwissProt + Q99650 + + + Ensembl + ENSG00000145623 + + + Genatlas + OSMR + + + HGNC + 8507 + + + OMIM + 601743 + + + ClinVar + OSMR + + + IUPHAR + 1714 + + + + + 5p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 19690585[PMID] + + interleukin 31 receptor A + IL31RA + + CRL + CRL3 + GLM-R + Glmr + IL-31RA + + + gene with protein product + + + + Reactome + Q8NI17 + + + ClinVar + IL31RA + + + Genatlas + IL31RA + + + HGNC + 18969 + + + OMIM + 609510 + + + SwissProt + Q8NI17 + + + IUPHAR + 1710 + + + Ensembl + ENSG00000164509 + + + + + 5q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 353217 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353217 + Epileptic encephalopathy with global cerebral demyelination + + Disease + + + Disorder + + + + 19641205[PMID] + + solute carrier family 25 member 12 + SLC25A12 + + AGC1 + aspartate/glutamate carrier 1 + Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial + Aralar + aralar1 + + + gene with protein product + + + + ClinVar + SLC25A12 + + + Ensembl + ENSG00000115840 + + + Genatlas + SLC25A12 + + + HGNC + 10982 + + + OMIM + 603667 + + + Reactome + O75746 + + + SwissProt + O75746 + + + IUPHAR + 1054 + + + + + 2q31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 352745 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352745 + Oculocutaneous albinism type 7 + + Disease + + + Disorder + + + + 23395477[PMID] + + leucine rich melanocyte differentiation associated + LRMDA + + CDA017 + OCA7 + oculocutaneous albinism 7, autosomal recessive + + + gene with protein product + + + + ClinVar + C10orf11 + + + Ensembl + ENSG00000148655 + + + Genatlas + C10orf11 + + + HGNC + 23405 + + + OMIM + 614537 + + + SwissProt + Q9H2I8 + + + + + 10q22.2-q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 353320 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353320 + Pyruvate carboxylase deficiency, benign type + + Clinical subtype + + + Subtype of disorder + + + + 20301764[PMID] + + pyruvate carboxylase + PC + + PCB + + + gene with protein product + + + + Ensembl + ENSG00000173599 + + + Genatlas + PC + + + HGNC + 8636 + + + OMIM + 608786 + + + Reactome + P11498 + + + SwissProt + P11498 + + + ClinVar + PC + + + IUPHAR + 1262 + + + + + 11q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 353327 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353327 + Congenital myasthenic syndrome with glycosylation defect + + Etiological subtype + + + Subtype of disorder + + + + 23404334[PMID] + + ALG2 alpha-1,3/1,6-mannosyltransferase + ALG2 + + CDGIi + FLJ14511 + NET38 + hALPG2 + CDG1I + + + gene with protein product + + + + Ensembl + ENSG00000119523 + + + Genatlas + ALG2 + + + HGNC + 23159 + + + OMIM + 607905 + + + Reactome + Q9H553 + + + SwissProt + Q9H553 + + + ClinVar + ALG2 + + + + + 9q22.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23404334[PMID]_22742743[PMID] + + dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 + DPAGT1 + + ALG7 + CDG-Ij + D11S366 + DGPT + GPT + GlcNAc-1-P transferase 1 + UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 + + + gene with protein product + + + + ClinVar + DPAGT1 + + + Genatlas + DPAGT1 + + + HGNC + 2995 + + + OMIM + 191350 + + + Reactome + Q9H3H5 + + + SwissProt + Q9H3H5 + + + Ensembl + ENSG00000172269 + + + + + 11q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23404334[PMID]_21310273[PMID] + + glutamine--fructose-6-phosphate transaminase 1 + GFPT1 + + GFA + GFAT + GFAT1 + + + gene with protein product + + + + Ensembl + ENSG00000198380 + + + Genatlas + GFPT1 + + + HGNC + 4241 + + + OMIM + 138292 + + + Reactome + Q06210 + + + SwissProt + Q06210 + + + ClinVar + GFPT1 + + + + + 2p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23404334[PMID] + + ALG14 UDP-N-acetylglucosaminyltransferase subunit + ALG14 + + MGC19780 + + + gene with protein product + + + + ClinVar + ALG14 + + + Ensembl + ENSG00000172339 + + + Genatlas + ALG14 + + + HGNC + 28287 + + + OMIM + 612866 + + + Reactome + Q96F25 + + + SwissProt + Q96F25 + + + + + 1p21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26133662[PMID] + + GDP-mannose pyrophosphorylase B + GMPPB + + KIAA1851 + mannose-1-phosphate guanyltransferase beta + + + gene with protein product + + + + Ensembl + ENSG00000173540 + + + Genatlas + GMPPB + + + HGNC + 22932 + + + OMIM + 615320 + + + Reactome + Q9Y5P6 + + + SwissProt + Q9Y5P6 + + + ClinVar + GMPPB + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 353308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353308 + Pyruvate carboxylase deficiency, infantile type + + Clinical subtype + + + Subtype of disorder + + + + 20301764[PMID] + + pyruvate carboxylase + PC + + PCB + + + gene with protein product + + + + Ensembl + ENSG00000173599 + + + Genatlas + PC + + + HGNC + 8636 + + + OMIM + 608786 + + + Reactome + P11498 + + + SwissProt + P11498 + + + ClinVar + PC + + + IUPHAR + 1262 + + + + + 11q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 353314 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353314 + Pyruvate carboxylase deficiency, severe neonatal type + + Clinical subtype + + + Subtype of disorder + + + + 20301764[PMID] + + pyruvate carboxylase + PC + + PCB + + + gene with protein product + + + + Ensembl + ENSG00000173599 + + + Genatlas + PC + + + HGNC + 8636 + + + OMIM + 608786 + + + Reactome + P11498 + + + SwissProt + P11498 + + + ClinVar + PC + + + IUPHAR + 1262 + + + + + 11q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 353298 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353298 + Roifman syndrome + + Disease + + + Disorder + + + + 26522830[PMID] + + RNA, U4atac small nuclear + RNU4ATAC + + U4atac snRNA + U4atac + RNU4ATAC1 + + + Non-coding RNA + + + + ClinVar + RNU4ATAC + + + Ensembl + ENSG00000264229 + + + Genatlas + RNU4ATAC + + + HGNC + 34016 + + + OMIM + 601428 + + + + + 2q14.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 353281 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281 + Rubinstein-Taybi syndrome due to 16p13.3 microdeletion + + Etiological subtype + + + Subtype of disorder + + + + 20301699[PMID] + + CREB binding lysine acetyltransferase + CREBBP + + CBP + KAT3A + RTS + + + gene with protein product + + + + Ensembl + ENSG00000005339 + + + Genatlas + CREBBP + + + HGNC + 2348 + + + IUPHAR + 2734 + + + OMIM + 600140 + + + Reactome + Q92793 + + + ClinVar + CREBBP + + + SwissProt + Q92793 + + + + + 16p13.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 353284 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284 + Rubinstein-Taybi syndrome due to EP300 haploinsufficiency + + Etiological subtype + + + Subtype of disorder + + + + 20301699[PMID] + + EP300 lysine acetyltransferase + EP300 + + KAT3B + histone acetyltransferase p300 + p300 + + + gene with protein product + + + + Ensembl + ENSG00000100393 + + + Genatlas + EP300 + + + HGNC + 3373 + + + IUPHAR + 2735 + + + OMIM + 602700 + + + Reactome + Q09472 + + + SwissProt + Q09472 + + + ClinVar + EP300 + + + + + 22q13.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 352403 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352403 + Spectrin-associated autosomal recessive cerebellar ataxia + + Disease + + + Disorder + + + + 23236289[PMID] + + spectrin beta, non-erythrocytic 2 + SPTBN2 + + + + gene with protein product + + + + Reactome + O15020 + + + SwissProt + O15020 + + + Ensembl + ENSG00000173898 + + + Genatlas + SPTBN2 + + + HGNC + 11276 + + + OMIM + 604985 + + + ClinVar + SPTBN2 + + + + + 11q13.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 352333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352333 + Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome + + Disease + + + Disorder + + + + 22100072[PMID] + + ELOVL fatty acid elongase 4 + ELOVL4 + + CT118 + cancer/testis antigen 118 + + + gene with protein product + + + + ClinVar + ELOVL4 + + + Ensembl + ENSG00000118402 + + + Genatlas + ELOVL4 + + + HGNC + 14415 + + + OMIM + 605512 + + + Reactome + Q9GZR5 + + + SwissProt + Q9GZR5 + + + + + 6q14.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 352328 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352328 + MEGDEL syndrome + + Disease + + + Disorder + + + + 22683713[PMID] + + serine active site containing 1 + SERAC1 + + FLJ14917 + + + gene with protein product + + + + ClinVar + SERAC1 + + + Ensembl + ENSG00000122335 + + + Genatlas + SERAC1 + + + HGNC + 21061 + + + OMIM + 614725 + + + SwissProt + Q96JX3 + + + + + 6q25.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 352447 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352447 + Progressive external ophthalmoplegia-myopathy-emaciation syndrome + + Disease + + + Disorder + + + + 23313956[PMID] + + mitochondrial genome maintenance exonuclease 1 + MGME1 + + DDK1 + bA504H3.4 + + + gene with protein product + + + + ClinVar + MGME1 + + + Reactome + Q9BQP7 + + + Ensembl + ENSG00000125871 + + + Genatlas + MGME1 + + + HGNC + 16205 + + + OMIM + 615076 + + + SwissProt + Q9BQP7 + + + + + 20p11.23 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 352530 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352530 + Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome + + Disease + + + Disorder + + + + 22549410[PMID] + + trafficking protein particle complex subunit 9 + TRAPPC9 + + IKBKBBP + KIAA1882 + MRT13 + NIBP + T1 + TRAPP 120 kDa subunit + TRS120 + tularik gene 1 + + + gene with protein product + + + + Ensembl + ENSG00000167632 + + + Genatlas + TRAPPC9 + + + HGNC + 30832 + + + OMIM + 611966 + + + Reactome + Q96Q05 + + + SwissProt + Q96Q05 + + + ClinVar + TRAPPC9 + + + + + 8q24.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 352563 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352563 + Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency + + Disease + + + Disorder + + + + 23315540[PMID] + + mitochondrial ribosomal protein L44 + MRPL44 + + mL44 + 39S ribosomal protein L44, mitochondrial + FLJ12701 + FLJ13990 + + + gene with protein product + + + + ClinVar + MRPL44 + + + Ensembl + ENSG00000135900 + + + Genatlas + MRPL44 + + + HGNC + 16650 + + + OMIM + 611849 + + + Reactome + Q9H9J2 + + + SwissProt + Q9H9J2 + + + + + 2q36.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 352479 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352479 + ISPD-related limb-girdle muscular dystrophy R20 + + Disease + + + Disorder + + + + 23288328[PMID] + + CDP-L-ribitol pyrophosphorylase A + CRPPA + + 4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis) + IspD + Nip + Notch1-induced protein + hCG_1745121 + D-ribitol-5-phosphate cytidylyltransferase + notch1-induced protein + + + gene with protein product + + + + ClinVar + ISPD + + + OMIM + 614631 + + + SwissProt + A4D126 + + + Ensembl + ENSG00000214960 + + + Genatlas + ISPD + + + HGNC + 37276 + + + + + 7p21.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 352470 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352470 + DNA2-related mitochondrial DNA deletion syndrome + + Disease + + + Disorder + + + + 23352259[PMID] + + DNA replication helicase/nuclease 2 + DNA2 + + KIAA0083 + + + gene with protein product + + + + ClinVar + DNA2 + + + Genatlas + DNA2 + + + HGNC + 2939 + + + OMIM + 601810 + + + Reactome + P51530 + + + SwissProt + P51530 + + + Ensembl + ENSG00000138346 + + + + + 10q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 352490 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352490 + Autism spectrum disorder due to AUTS2 deficiency + + Disease + + + Disorder + + + + 23332918[PMID] + + activator of transcription and developmental regulator AUTS2 + AUTS2 + + FBRSL2 + KIAA0442 + + + gene with protein product + + + + ClinVar + AUTS2 + + + Ensembl + ENSG00000158321 + + + Genatlas + AUTS2 + + + HGNC + 14262 + + + OMIM + 607270 + + + SwissProt + Q8WXX7 + + + Reactome + Q8WXX7 + + + + + 7q11.22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 294415 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294415 + Renal-hepatic-pancreatic dysplasia + + Malformation syndrome + + + Disorder + + + + 20007846[PMID]_18371931[PMID] + + nephrocystin 3 + NPHP3 + + CFAP31 + FLJ30691 + FLJ36696 + KIAA2000 + MKS7 + Meckel syndrome, type 7 + NPH3 + SLSN3 + cilia and flagella associated protein 31 + + + gene with protein product + + + + ClinVar + NPHP3 + + + Ensembl + ENSG00000113971 + + + Genatlas + NPHP3 + + + HGNC + 7907 + + + OMIM + 608002 + + + Reactome + Q7Z494 + + + SwissProt + Q7Z494 + + + + + 3q22.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 23418306[PMID] + + NIMA related kinase 8 + NEK8 + + NPHP9 + + + gene with protein product + + + + ClinVar + NEK8 + + + Reactome + Q86SG6 + + + Ensembl + ENSG00000160602 + + + Genatlas + NEK8 + + + HGNC + 13387 + + + IUPHAR + 2123 + + + OMIM + 609799 + + + SwissProt + Q86SG6 + + + + + 17q11.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 294016 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294016 + Microcephaly-capillary malformation syndrome + + Malformation syndrome + + + Disorder + + + + 23542699[PMID] + + STAM binding protein + STAMBP + + AMSH + + + gene with protein product + + + + Ensembl + ENSG00000124356 + + + Genatlas + STAMBP + + + HGNC + 16950 + + + OMIM + 606247 + + + SwissProt + O95630 + + + Reactome + O95630 + + + ClinVar + STAMBP + + + + + 2p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 294023 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294023 + Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome + + Disease + + + Disorder + + + + 22010916[PMID] + + ADAM metallopeptidase domain 17 + ADAM17 + + CD156B + cSVP + cartilage snake venom-like protease + TNF-alpha convertase enzyme + a disintegrin and metalloproteinase 17 + + + gene with protein product + + + + Genatlas + ADAM17 + + + HGNC + 195 + + + IUPHAR + 1662 + + + OMIM + 603639 + + + Reactome + P78536 + + + SwissProt + P78536 + + + Ensembl + ENSG00000151694 + + + ClinVar + ADAM17 + + + + + 2p25.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 293964 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293964 + Hypoinsulinemic hypoglycemia and body hemihypertrophy + + Disease + + + Disorder + + + + 21979934[PMID]_24285683[PMID] + + AKT serine/threonine kinase 2 + AKT2 + + PKBß + + + gene with protein product + + + + ClinVar + AKT2 + + + Ensembl + ENSG00000105221 + + + Genatlas + AKT2 + + + HGNC + 392 + + + IUPHAR + 1480 + + + OMIM + 164731 + + + Reactome + P31751 + + + SwissProt + P31751 + + + + + 19q13.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 293978 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293978 + Deficiency in anterior pituitary function-variable immunodeficiency syndrome + + Disease + + + Disorder + + + + 25524009[PMID]_24140114[PMID] + + nuclear factor kappa B subunit 2 + NFKB2 + + LYT-10 + NF-kB2 + p105 + p49/p100 + p52 + + + gene with protein product + + + + IUPHAR + 3282 + + + Ensembl + ENSG00000077150 + + + Genatlas + NFKB2 + + + HGNC + 7795 + + + OMIM + 164012 + + + Reactome + Q00653 + + + SwissProt + Q00653 + + + ClinVar + NFKB2 + + + + + 10q24.32 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 293955 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293955 + Childhood encephalopathy due to thiamine pyrophosphokinase deficiency + + Disease + + + Disorder + + + + 22152682[PMID] + + thiamin pyrophosphokinase 1 + TPK1 + + HTPK1 + PP20 + Placental protein 20 + Thiamine diphosphokinase + Thiamine kinase + Thiamine pyrophosphokinase 1 + thiamine pyrophosphokinase 1 + thiamine kinase + placental protein 20 + thiamine diphosphokinase + + + gene with protein product + + + + Ensembl + ENSG00000196511 + + + Genatlas + TPK1 + + + HGNC + 17358 + + + OMIM + 606370 + + + Reactome + Q9H3S4 + + + SwissProt + Q9H3S4 + + + ClinVar + TPK1 + + + + + 7q35 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 293948 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293948 + 1p21.3 microdeletion syndrome + + Malformation syndrome + + + Disorder + + + + 22003227[PMID]_21114665[PMID] + + dihydropyrimidine dehydrogenase + DPYD + + DPD + DHPDHase + Dihydrouracil dehydrogenase + Dihydrothymine dehydrogenase + + + gene with protein product + + + + ClinVar + DPYD + + + Ensembl + ENSG00000188641 + + + Genatlas + DPYD + + + HGNC + 3012 + + + OMIM + 612779 + + + Reactome + Q12882 + + + SwissProt + Q12882 + + + IUPHAR + 3102 + + + + + 1p21.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 293936 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293936 + EDICT syndrome + + Disease + + + Disorder + + + + 21996275[PMID] + + microRNA 184 + MIR184 + + hsa-mir-184 + + + Non-coding RNA + + + + Ensembl + ENSG00000207695 + + + Genatlas + MIR184 + + + HGNC + 31555 + + + OMIM + 613146 + + + ClinVar + MIR184 + + + + + 15q25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 293925 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293925 + Lethal occipital encephalocele-skeletal dysplasia syndrome + + Malformation syndrome + + + Disorder + + + + 22019272[PMID] + + cytochrome P450 family 26 subfamily B member 1 + CYP26B1 + + P450RAI-2 + + + gene with protein product + + + + IUPHAR + 1367 + + + Ensembl + ENSG00000003137 + + + Genatlas + CYP26B1 + + + HGNC + 20581 + + + OMIM + 605207 + + + Reactome + Q9NR63 + + + SwissProt + Q9NR63 + 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Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 293822 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293822 + MITF-related melanoma and renal cell carcinoma predisposition syndrome + + Disease + + + Disorder + + + + 22480646[PMID]_22012259[PMID] + + melanocyte inducing transcription factor + MITF + + MI + bHLHe32 + homolog of mouse microphthalmia + + + gene with protein product + + + + Ensembl + ENSG00000187098 + + + Genatlas + MITF + + + HGNC + 7105 + + + OMIM + 156845 + + + Reactome + O75030 + + + SwissProt + O75030 + + + ClinVar + MITF + + + + + 3p13 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 293825 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293825 + Congenital dyserythropoietic anemia type IV + + Disease + + + Disorder + + + + + + KLF transcription factor 1 + KLF1 + + EKLF + erythroid Kruppel-like factor + + + gene with protein product + + + + Ensembl + ENSG00000105610 + + + 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22052856[PMID] + + pyrroline-5-carboxylate reductase 1 + PYCR1 + + P5C + + + gene with protein product + + + + Ensembl + ENSG00000183010 + + + Genatlas + PYCR1 + + + HGNC + 9721 + + + OMIM + 179035 + + + Reactome + P32322 + + + SwissProt + P32322 + + + ClinVar + PYCR1 + + + + + 17q25.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 289891 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289891 + Hypermethioninemia due to glycine N-methyltransferase deficiency + + Disease + + + Disorder + + + + 19585268[PMID] + + glycine N-methyltransferase + GNMT + + + + gene with protein product + + + + Ensembl + ENSG00000124713 + + + Genatlas + GNMT + + + HGNC + 4415 + + + OMIM + 606628 + + + Reactome + Q14749 + + + SwissProt + Q14749 + + + ClinVar + GNMT + + + + + 6p21.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 289863 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289863 + Atypical glycine encephalopathy + + Clinical subtype + + + Subtype of disorder + + + + 27773429[PMID] + + solute carrier family 6 member 9 + SLC6A9 + + GlyT-1 + GLYT1 + Sodium- and chloride-dependent glycine transporter 1 + + + gene with protein product + + + + Genatlas + SLC6A9 + + + SwissProt + P48067 + + + HGNC + 11056 + + + Ensembl + ENSG00000196517 + + + OMIM + 601019 + + + IUPHAR + 935 + + + Reactome + P48067 + + + ClinVar + SLC6A9 + + + + + 1p34.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301531[PMID] + + aminomethyltransferase + AMT + + GCST + NKH + glycine cleavage system protein T + nonketotic hyperglycinemia + + + gene with protein product + + + + ClinVar + AMT + + + Ensembl + ENSG00000145020 + + + Genatlas + AMT + + + HGNC + 473 + + + OMIM + 238310 + + + Reactome + P48728 + + + SwissProt + P48728 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 20301531[PMID] + + glycine cleavage system protein H + GCSH + + lipoic acid-containing protein + + + gene with protein product + + + + ClinVar + GCSH + + + IUPHAR + 3098 + + + Ensembl + ENSG00000140905 + + + Genatlas + GCSH + + + HGNC + 4208 + + + OMIM + 238330 + + + Reactome + P23434 + + + SwissProt + P23434 + + + + + 16q23.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301531[PMID] + + glycine decarboxylase + GLDC + + GCSP + NKH + glycine cleavage system protein P + glycine dehydrogenase + nonketotic hyperglycinemia + + + gene with protein product + + + + Ensembl + ENSG00000178445 + + + Genatlas + GLDC + + + HGNC + 4313 + + + OMIM + 238300 + + + Reactome + P23378 + + + SwissProt + P23378 + + + ClinVar + GLDC + + + + + 9p24.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 289916 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289916 + Vitamin B12-unresponsive methylmalonic acidemia type mut0 + + Clinical subtype + + + Subtype of disorder + + + + 20301409[PMID] + + methylmalonyl-CoA mutase + MMUT + + Methylmalonyl-CoA mutase, mitochondrial + MCM + + + gene with protein product + + + + Ensembl + ENSG00000146085 + + + Genatlas + MUT + + + HGNC + 7526 + + + OMIM + 609058 + + + Reactome + P22033 + + + ClinVar + MUT + + + SwissProt + P22033 + + + + + 6p12.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 289857 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289857 + Neonatal glycine encephalopathy + + Clinical subtype + + + Subtype of disorder + + + + 20301531[PMID] + + aminomethyltransferase + AMT + + GCST + NKH + glycine cleavage system protein T + nonketotic hyperglycinemia + + + gene with protein product + + + + ClinVar + AMT + + + Ensembl + ENSG00000145020 + + + Genatlas + AMT + + + HGNC + 473 + + + OMIM + 238310 + + + Reactome + P48728 + + + SwissProt + P48728 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 20301531[PMID] + + glycine cleavage system protein H + GCSH + + lipoic acid-containing protein + + + gene with protein product + + + + ClinVar + GCSH + + + IUPHAR + 3098 + + + Ensembl + ENSG00000140905 + + + Genatlas + GCSH + + + HGNC + 4208 + + + OMIM + 238330 + + + Reactome + P23434 + + + SwissProt + P23434 + + + + + 16q23.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301531[PMID] + + glycine decarboxylase + GLDC + + GCSP + NKH + glycine cleavage system protein P + glycine dehydrogenase + nonketotic hyperglycinemia + + + gene with protein product + + + + Ensembl + ENSG00000178445 + + + Genatlas + GLDC + + + HGNC + 4313 + + + OMIM + 238300 + + + Reactome + P23378 + + + SwissProt + P23378 + + + ClinVar + GLDC + + + + + 9p24.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 289860 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289860 + Infantile glycine encephalopathy 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Disease + + + Disorder + + + + 21981780[PMID] + + chromosome 19 open reading frame 12 + C19ORF12 + + membrane protein-associated neurodegeneration + DKFZP762D096 + MGC10922 + NBIA4 + neurodegeneration with brain iron accumulation 4 + MPAN + + + gene with protein product + + + + Ensembl + ENSG00000131943 + + + Genatlas + C19orf12 + + + HGNC + 25443 + + + OMIM + 614297 + + + SwissProt + Q9NSK7 + + + ClinVar + C19orf12 + + + + + 19q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 289548 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289548 + Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency + + Disease + + + Disorder + + + + 21880796[PMID] + + cytochrome P450 family 11 subfamily A member 1 + CYP11A1 + + P450SCC + cholesterol monooxygenase (side-chain-cleaving) + + + gene with protein product + + + + ClinVar + CYP11A1 + + + Ensembl + ENSG00000140459 + + + Genatlas + CYP11A1 + + + HGNC + 2590 + + + IUPHAR + 1358 + + 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ecto + NT5E + + CALJA + CD73 + eN + eNT + + + gene with protein product + + + + Ensembl + ENSG00000135318 + + + Genatlas + NT5E + + + HGNC + 8021 + + + OMIM + 129190 + + + Reactome + P21589 + + + SwissProt + P21589 + + + IUPHAR + 1232 + + + ClinVar + NT5E + + + + + 6q14.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 289586 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289586 + Exfoliative ichthyosis + + Disease + + + Disorder + + + + 27476651[PMID] + + serpin family B member 8 + SERPINB8 + + CAP2 + cytoplasmic antiproteinase 2 + + + gene with protein product + + + + OMIM + 601697 + + + Genatlas + SERPINB8 + + + SwissProt + P50452 + + + Reactome + P50452 + + + Ensembl + ENSG00000166401 + + + HGNC + 8952 + + + ClinVar + SERPINB8 + + + + + 18q22.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 21944047[PMID] + + cystatin A + CSTA + + stefin A + + + gene with protein product + + + + Reactome + P01040 + + + Ensembl + ENSG00000121552 + + + Genatlas + CSTA + + + HGNC + 2481 + + + OMIM + 184600 + + + SwissProt + P01040 + + + ClinVar + CSTA + + + + + 3q21.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 293381 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293381 + Epithelial recurrent erosion dystrophy + + Disease + + + Disorder + + + + 25676728[PMID] + + collagen type XVII alpha 1 chain + COL17A1 + + BP180 + + + gene with protein product + + + + ClinVar + COL17A1 + + + Ensembl + ENSG00000065618 + + + Genatlas + COL17A1 + + + HGNC + 2194 + + + OMIM + 113811 + + + Reactome + Q9UMD9 + + + SwissProt + Q9UMD9 + + + + + 10q25.1 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 293603 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293603 + Congenital hereditary endothelial dystrophy type II + + Disease + + + Disorder + + + + 16767101[PMID]_24351571[PMID] + + solute carrier family 4 member 11 + SLC4A11 + + NaBC1 + dJ794I6.2 + BTR1 + FECD4 + sodium-coupled borate cotransporter 1 + bicarbonate transporter related protein 1 + + + gene with protein product + + + + Ensembl + ENSG00000088836 + + + Genatlas + SLC4A11 + + + HGNC + 16438 + + + OMIM + 610206 + + + SwissProt + Q8NBS3 + + + IUPHAR + 913 + + + ClinVar + SLC4A11 + + + + + 20p13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811 + Shwachman-Diamond syndrome + + Disease + + + Disorder + + + + 20301722[PMID] + + SBDS ribosome maturation factor + SBDS + + CGI-97 + FLJ10917 + SDS + SWDS + SDO1 + + + gene with protein product + + + + ClinVar + SBDS + + + Ensembl + ENSG00000126524 + + + Genatlas + SBDS + + + HGNC + 19440 + + + OMIM + 607444 + + + SwissProt + Q9Y3A5 + + + + + 7q11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 28331068[PMID] + + elongation factor like GTPase 1 + EFL1 + + FAM42A + FLJ13119 + HsT19294 + RIA1 + ribosome assembly 1 homolog (yeast) + + + gene with protein product + + + + HGNC + 25789 + + + Ensembl + ENSG00000140598 + + + SwissProt + Q7Z2Z2 + + + OMIM + 617538 + + + + + 15q25.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 28062395[PMID] + + DnaJ heat shock protein family (Hsp40) member C21 + DNAJC21 + + DNAJA5 + GS3 + JJJ1 + JJJ1 DnaJ domain protein homolog (S. cerevisiae) + + + gene with protein product + + + + ClinVar + DNAJC21 + + + HGNC + 27030 + + + Ensembl + ENSG00000168724 + + + OMIM + 617048 + + + SwissProt + Q5F1R6 + + + Genatlas + DNAJC21 + + + + + 5p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 293150 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293150 + Familial clubfoot due to PITX1 point mutation + + Etiological subtype + + + Subtype of disorder + + + + 18950742[PMID] + + paired like homeodomain 1 + PITX1 + + POTX + PTX1 + + + gene with protein product + + + + Reactome + P78337 + + + Ensembl + ENSG00000069011 + + + Genatlas + PITX1 + + + HGNC + 9004 + + + OMIM + 602149 + + + SwissProt + P78337 + + + ClinVar + PITX1 + + + + + 5q31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 741 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=741 + Familial mitral valve prolapse + + Morphological anomaly + + + Disorder + + + + 26258302[PMID] + + dachsous cadherin-related 1 + DCHS1 + + CDHR6 + FIB1 + FLJ11790 + KIAA1773 + cadherin-related family member 6 + + + gene with protein product + + + + Ensembl + ENSG00000166341 + + + Genatlas + DCHS1 + + + HGNC + 13681 + + + OMIM + 603057 + + + SwissProt + Q96JQ0 + + + ClinVar + DCHS1 + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 293144 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293144 + Familial clubfoot due to 5q31 microdeletion + + Etiological subtype + + + Subtype of disorder + + + + 21775501[PMID] + + paired like homeodomain 1 + PITX1 + + POTX + PTX1 + + + gene with protein product + + + + Reactome + P78337 + + + Ensembl + ENSG00000069011 + + + Genatlas + PITX1 + + + HGNC + 9004 + + + OMIM + 602149 + + + SwissProt + P78337 + + + ClinVar + PITX1 + + + + + 5q31.1 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 293168 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293168 + Infantile-onset ascending hereditary spastic paralysis + + Disease + + + Disorder + + + + 24315819[PMID] + + alsin Rho guanine nucleotide exchange factor ALS2 + ALS2 + + alsin + + + gene with protein product + + + + Ensembl + ENSG00000003393 + + + Genatlas + ALS2 + + + HGNC + 443 + + + OMIM + 606352 + + + SwissProt + Q96Q42 + + + Reactome + Q96Q42 + + + ClinVar + ALS2 + + + + + 2q33.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 293165 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293165 + Skin fragility-woolly hair-palmoplantar keratoderma syndrome + + Disease + + + Disorder + + + + 11841538[PMID] + + desmoplakin + DSP + + DP + DPI + DPII + KPPS2 + PPKS2 + + + gene with protein product + + + + ClinVar + DSP + + + Ensembl + ENSG00000096696 + + + Genatlas + DSP + + + HGNC + 3052 + + + OMIM + 125647 + + + Reactome + P15924 + + + SwissProt + P15924 + + + + + 6p24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 428 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=428 + Autosomal dominant hypocalcemia + + Clinical subtype + + + Subtype of disorder + + + + 9920108[PMID]_12733714[PMID]_22789683[PMID] + + calcium sensing receptor + CASR + + FHH + GPRC2A + NSHPT + severe neonatal hyperparathyroidism + + + gene with protein product + + + + Ensembl + ENSG00000036828 + + + Genatlas + CASR + + + HGNC + 1514 + + + IUPHAR + 54 + + + OMIM + 601199 + + + Reactome + P41180 + + + SwissProt + P41180 + + + ClinVar + CASR + + + + + 3q13.33-q21.1 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 23802516[PMID] + + G protein subunit alpha 11 + GNA11 + + FBH + FBH2 + FHH2 + + + gene with protein product + + + + Reactome + P29992 + + + SwissProt + P29992 + + + Ensembl + ENSG00000088256 + + + Genatlas + GNA11 + + + HGNC + 4379 + + + OMIM + 139313 + + + ClinVar + GNA11 + + + + + 19p13.3 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 293181 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293181 + Epilepsy of infancy with migrating focal seizures + + Disease + + + Disorder + + + + 31618474[PMID] + + sodium voltage-gated channel alpha subunit 2 + SCN2A + + HBSCI + HBSCII + Nav1.2 + + + gene with protein product + + + + ClinVar + SCN2A + + + Ensembl + ENSG00000136531 + + + Genatlas + SCN2A + + + HGNC + 10588 + + + IUPHAR + 579 + + + OMIM 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mutation(s) in + + + Assessed + + + + 23526554[PMID] + + TBC1 domain family member 24 + TBC1D24 + + DFNA65 + KIAA1171 + TBC/LysM-associated domain containing 6 + TLDC6 + skywalker homolog (Drosophila) + deafness, autosomal dominant 65 + + + gene with protein product + + + + ClinVar + TBC1D24 + + + Reactome + Q9ULP9 + + + Ensembl + ENSG00000162065 + + + Genatlas + TBC1D24 + + + HGNC + 29203 + + + OMIM + 613577 + + + SwissProt + Q9ULP9 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 22690784[PMID] + + phospholipase C beta 1 + PLCB1 + + PLC-I + PLC154 + phosphoinositide phospholipase C + KIAA0581 + + + gene with protein product + + + + IUPHAR + 1403 + + + Ensembl + ENSG00000182621 + + + Genatlas + PLCB1 + + + HGNC + 15917 + + + OMIM + 607120 + + + Reactome + Q9NQ66 + + + SwissProt + Q9NQ66 + + + ClinVar + PLCB1 + + + + + 20p12.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23086397[PMID] + + potassium sodium-activated channel subfamily T member 1 + KCNT1 + + KCa4.1 + KIAA1422 + SLACK + Sequence like a calcium-activated K+ channel + Slo2.2 + + + gene with protein product + + + + Ensembl + ENSG00000107147 + + + Genatlas + KCNT1 + + + HGNC + 18865 + + + IUPHAR + 385 + + + OMIM + 608167 + + + SwissProt + Q5JUK3 + + + ClinVar + KCNT1 + + + + + 9q34.3 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 26333769[PMID] + + solute carrier family 12 member 5 + SLC12A5 + + KCC2 + KIAA1176 + hKCC2 + K-Cl cotransporter 2 + + + gene with protein product + + + + ClinVar + SLC12A5 + + + Ensembl + ENSG00000124140 + + + Genatlas + SLC12A5 + + + HGNC + 13818 + + + IUPHAR + 972 + + + OMIM + 606726 + + + Reactome + Q9H2X9 + + + SwissProt + Q9H2X9 + + + + + 20q13.12 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 293199 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293199 + Pleomorphic rhabdomyosarcoma + + Clinical subtype + + + Subtype of disorder + + + + 7706467[PMID] + + tumor protein p53 + TP53 + + LFS1 + Li-Fraumeni syndrome + P53 + p53 + + + gene with protein product + + + + Ensembl + ENSG00000141510 + + + Genatlas + TP53 + + + HGNC + 11998 + + + OMIM + 191170 + + + Reactome + P04637 + + + SwissProt + P04637 + + + ClinVar + TP53 + + + + + 17p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 34166060[PMID] + + neurofibromin 1 + NF1 + + Watson disease + neurofibromatosis + von Recklinghausen disease + + + gene with protein product + + + + Ensembl + ENSG00000196712 + + + Genatlas + NF1 + + + HGNC + 7765 + + + OMIM + 613113 + + + ClinVar + NF1 + + + Reactome + P21359 + + + SwissProt + P21359 + + + + + 17q11.2 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 393 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=393 + 46,XX testicular difference of sex development + + Malformation syndrome + + + Disorder + + + + 24140641[PMID] + + SRY-box transcription factor 9 + SOX9 + + SRA1 + + + gene with protein product + + + + Ensembl + ENSG00000125398 + + + Genatlas + SOX9 + + + HGNC + 11204 + + + OMIM + 608160 + + + Reactome + P48436 + + + SwissProt + P48436 + + + ClinVar + SOX9 + + + + + 17q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301589[PMID] + + sex determining region Y + SRY + + TDF + testis-determining factor + + + gene with protein product + + + + Ensembl + ENSG00000184895 + + + Genatlas + SRY + + + HGNC + 11311 + + + OMIM + 480000 + + + Reactome + Q05066 + + + SwissProt + Q05066 + + + ClinVar + SRY + + + + + Yp11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21183788[PMID]_22678921[PMID] + + SRY-box transcription factor 3 + SOX3 + + + + gene with protein product + + + + ClinVar + SOX3 + + + Ensembl + ENSG00000134595 + + + Genatlas + SOX3 + + + HGNC + 11199 + + + OMIM + 313430 + + + Reactome + P41225 + + + SwissProt + P41225 + + + + + Xq27.1 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 28483799[PMID] + + nuclear receptor subfamily 0 group B member 1 + NR0B1 + + AHCH + DAX1 + + + gene with protein product + + + + ClinVar + NR0B1 + + + IUPHAR + 635 + + + OMIM + 300473 + + + Reactome + P51843 + + + SwissProt + P51843 + + + Ensembl + ENSG00000169297 + + + Genatlas + NR0B1 + + + HGNC + 7960 + + + + + Xp21.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 27490115[PMID] + + nuclear receptor subfamily 5 group A member 1 + NR5A1 + + AD4BP + ELP + FTZ1 + SF-1 + hSF-1 + steroidogenic factor 1 + SF1 + + + gene with protein product + + + + ClinVar + NR5A1 + + + Ensembl + ENSG00000136931 + + + Genatlas + NR5A1 + + + HGNC + 7983 + + + IUPHAR + 632 + + + OMIM + 184757 + + + Reactome + Q13285 + + + SwissProt + Q13285 + + + + + 9q33.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 293284 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293284 + Tetrahydrobiopterin-responsive phenylketonuria + + Clinical subtype + + + Subtype of disorder + + + + 12409276[PMID] + + phenylalanine hydroxylase + PAH + + PH + phenylalanine 4-monooxygenase + phenylalanine-4-hydroxylase + L-phenylalanine hydroxylase + Phe-4-monooxygenase + + + gene with protein product + + + + Ensembl + ENSG00000171759 + + + Genatlas + PAH + + + HGNC + 8582 + + + IUPHAR + 1240 + + + OMIM + 612349 + + + Reactome + P00439 + + + SwissProt + P00439 + + + ClinVar + PAH + + + + + 12q23.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2394 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2394 + Pyruvate dehydrogenase E3 deficiency + + Clinical subtype + + + Subtype of disorder + + + + 24777537[PMID] + + dihydrolipoamide dehydrogenase + DLD + + DLDH + E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex + E3 + pyruvate dehydrogenase complex subunit E3, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex, glycine cleavage system protein L + OGDC-E3 + + + gene with protein product + + + + Ensembl + ENSG00000091140 + + + Genatlas + DLD + + + HGNC + 2898 + + + OMIM + 238331 + + + Reactome + P09622 + + + SwissProt + P09622 + + + ClinVar + DLD + + + + + 7q31.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 2686 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2686 + Cyclic neutropenia + + Disease + + + Disorder + + + + 14673143[PMID]_10581030[PMID] + + elastase, neutrophil expressed + ELANE + + HLE + HNE + NE + leukocyte elastase + medullasin + neutrophil elastase + polymorphonuclear leukocyte elastase + PMN Elastase + PMN-E + + + gene with protein product + + + + ClinVar + ELANE + + + Ensembl + ENSG00000197561 + + + Genatlas + ELANE + + + HGNC + 3309 + + + IUPHAR + 2358 + + + OMIM + 130130 + + + Reactome + P08246 + + + SwissProt + P08246 + + + + + 19p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 284414 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284414 + Glycerol kinase deficiency, adult form + + Clinical subtype + + + Subtype of disorder + + + + 8651297[PMID] + + glycerol kinase + GK + + GK1 + GKD + + + gene with protein product + + + + SwissProt + P32189 + + + ClinVar + GK + + + Ensembl + ENSG00000198814 + + + Genatlas + GK + + + HGNC + 4289 + + + OMIM + 300474 + + + Reactome + P32189 + + + + + Xp21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 284417 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417 + Phosphoserine aminotransferase deficiency, infantile/juvenile form + + Etiological subtype + + + Subtype of disorder + + + + 17436247[PMID] + + phosphoserine aminotransferase 1 + PSAT1 + + PSAT + PSA + phosphoserine transaminase + + + gene with protein product + + + + Ensembl + ENSG00000135069 + + + Genatlas + PSAT1 + + + HGNC + 19129 + + + OMIM + 610936 + + + Reactome + Q9Y617 + + + SwissProt + Q9Y617 + + + ClinVar + PSAT1 + + + + + 9q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 284426 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284426 + Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency + + Clinical subtype + + + Subtype of disorder + + + + + + lactate dehydrogenase A + LDHA + + + + gene with protein product + + + + Ensembl + ENSG00000134333 + + + Genatlas + LDHA + + + HGNC + 6535 + + + OMIM + 150000 + + + Reactome + P00338 + + + SwissProt + P00338 + + + ClinVar + LDHA + + + + + 11p15.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 284435 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284435 + Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency + + Clinical subtype + + + Subtype of disorder + + + + + + lactate dehydrogenase B + LDHB + + + + gene with protein product + + + + Ensembl + ENSG00000111716 + + + Genatlas + LDHB + + + HGNC + 6541 + + + OMIM + 150100 + + + Reactome + P07195 + + + SwissProt + P07195 + + + ClinVar + LDHB + + + + + 12p12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 284973 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284973 + Marfan syndrome type 2 + + Clinical subtype + + + Subtype of disorder + + + + 16799921[PMID]_18781618[PMID]_ + + transforming growth factor beta receptor 1 + TGFBR1 + + ALK5 + TBRI + TBR-i + ACVRLK4 + ALK-5 + activin A receptor type II-like kinase, 53kDa + + + gene with protein product + + + + ClinVar + TGFBR1 + + + Ensembl + ENSG00000106799 + + + Genatlas + TGFBR1 + + + HGNC + 11772 + + + IUPHAR + 1788 + + + OMIM + 190181 + + + Reactome + P36897 + + + SwissProt + P36897 + + + + + 9q22.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + transforming growth factor beta receptor 2 + TGFBR2 + + TBRII + TBR-ii + + + gene with protein product + + + + ClinVar + TGFBR2 + + + Ensembl + ENSG00000163513 + + + Genatlas + TGFBR2 + + + HGNC + 11773 + + + IUPHAR + 1795 + + + OMIM + 190182 + + + Reactome + P37173 + + + SwissProt + P37173 + + + + + 3p24.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 284963 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284963 + Marfan syndrome type 1 + + Clinical subtype + + + Subtype of disorder + + + + + + fibrillin 1 + FBN1 + + MASS + Marfan syndrome + OCTD + SGS + asprosin + + + gene with protein product + + + + ClinVar + FBN1 + + + Ensembl + ENSG00000166147 + + + Genatlas + FBN1 + + + HGNC + 3603 + + + OMIM + 134797 + + + Reactome + P35555 + + + SwissProt + P35555 + + + + + 15q21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 284984 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284984 + Aneurysm-osteoarthritis syndrome + + Disease + + + Disorder + + + + 22167769[PMID] + + SMAD family member 3 + SMAD3 + + HsT17436 + JV15-2 + + + gene with protein product + + + + Ensembl + ENSG00000166949 + + + Genatlas + SMAD3 + + + HGNC + 6769 + + + OMIM + 603109 + + + Reactome + P84022 + + + SwissProt + P84022 + + + ClinVar + SMAD3 + + + + + 15q22.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 284979 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284979 + Neonatal Marfan syndrome + + Disease + + + Disorder + + + + 20132243[PMID] + + fibrillin 1 + FBN1 + + MASS + Marfan syndrome + OCTD + SGS + asprosin + + + gene with protein product + + + + ClinVar + FBN1 + + + Ensembl + ENSG00000166147 + + + Genatlas + FBN1 + + + HGNC + 3603 + + + OMIM + 134797 + + + Reactome + P35555 + + + SwissProt + P35555 + + + + + 15q21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 289365 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289365 + Familial vesicoureteral reflux + + Malformation syndrome + + + Disorder + + + + 23620400[PMID] + + tenascin XB + TNXB + + TNXBS + XB + XBS + TNX + HXBL + TN-X + Hexabrachion-like protein + tenascin-X + + + gene with protein product + + + + Ensembl + ENSG00000168477 + + + Genatlas + TNXB + + + HGNC + 11976 + + + OMIM + 600985 + + + Reactome + P22105 + + + SwissProt + P22105 + + + ClinVar + TNXB + + + + + 6p21.33-p21.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 17357069[PMID] + + roundabout guidance receptor 2 + ROBO2 + + KIAA1568 + + + gene with protein product + + + + Ensembl + ENSG00000185008 + + + Genatlas + ROBO2 + + + HGNC + 10250 + + + OMIM + 602431 + + + Reactome + Q9HCK4 + + + SwissProt + Q9HCK4 + + + ClinVar + ROBO2 + + + + + 3p12.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20960469[PMID] + + SRY-box transcription factor 17 + SOX17 + + + + gene with protein product + + + + Genatlas + SOX17 + + + HGNC + 18122 + + + OMIM + 610928 + + + Reactome + Q9H6I2 + + + SwissProt + Q9H6I2 + + + Ensembl + ENSG00000164736 + + + ClinVar + SOX17 + + + + + 8q11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 289377 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289377 + Early-onset myopathy with fatal cardiomyopathy + + Disease + + + Disorder + + + + 17444505[PMID]_22238790[PMID] + + titin + TTN + + CMH9 + CMPD4 + FLJ32040 + LGMD2J + MYLK5 + TMD + + + gene with protein product + + + + Reactome + Q8WZ42 + + + SwissProt + Q8WZ42 + + + ClinVar + TTN + + + Ensembl + ENSG00000155657 + + + Genatlas + TTN + + + HGNC + 12403 + + + IUPHAR + 2265 + + + OMIM + 188840 + + + + + 2q31.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 289380 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289380 + Myosclerosis + + Disease + + + Disorder + + + + 18852439[PMID] + + collagen type VI alpha 2 chain + COL6A2 + + + + gene with protein product + + + + ClinVar + COL6A2 + + + Ensembl + ENSG00000142173 + + + Genatlas + COL6A2 + + + HGNC + 2212 + + + OMIM + 120240 + + + Reactome + P12110 + + + SwissProt + P12110 + + + + + 21q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 289290 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289290 + Hypermethioninemia encephalopathy due to adenosine kinase deficiency + + Disease + + + Disorder + + + + 21963049[PMID] + + adenosine kinase + ADK + + AK + Adenosine 5'-phosphotransferase + adenosine 5'-phosphotransferase + + + gene with protein product + + + + Reactome + P55263 + + + SwissProt + P55263 + + + ClinVar + ADK + + + Ensembl + ENSG00000156110 + + + Genatlas + ADK + + + HGNC + 257 + + + OMIM + 102750 + + + IUPHAR + 1231 + + + + + 10q22.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 289266 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289266 + Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation + + Disease + + + Disorder + + + + 20890276[PMID] + + glutamate ionotropic receptor NMDA type subunit 2A + GRIN2A + + GluN2A + NR2A + + + gene with protein product + + + + ClinVar + GRIN2A + + + Ensembl + ENSG00000183454 + + + Genatlas + GRIN2A + + + HGNC + 4585 + + + IUPHAR + 456 + + + OMIM + 138253 + + + Reactome + Q12879 + + + SwissProt + Q12879 + + + + + 16p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 289307 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289307 + Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency + + Disease + + + Disorder + + + + 21863277[PMID]_10971205[PMID] + + aldehyde dehydrogenase 6 family member A1 + ALDH6A1 + + malonate-semialdehyde dehydrogenase (acetylating) + + + gene with protein product + + + + Ensembl + ENSG00000119711 + + + Genatlas + ALDH6A1 + + + HGNC + 7179 + + + OMIM + 603178 + + + Reactome + Q02252 + + + SwissProt + Q02252 + + + ClinVar + ALDH6A1 + + + + + 14q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 289504 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289504 + Combined malonic and methylmalonic acidemia + + Disease + + + Disorder + + + + 21841779[PMID] + + acyl-CoA synthetase family member 3 + ACSF3 + + malonyl-CoA synthetase + + + gene with protein product + + + + Ensembl + ENSG00000176715 + + + Genatlas + ACSF3 + + + HGNC + 27288 + + + OMIM + 614245 + + + Reactome + Q4G176 + + + SwissProt + Q4G176 + + + ClinVar + ACSF3 + + + + + 16q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 289499 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289499 + Congenital cataract microcornea with corneal opacity + + Malformation syndrome + + + Disorder + + + + 21907015[PMID]_24939590[PMID] + + peroxidasin + PXDN + + D2S448 + D2S448E + KIAA0230 + MG50 + PRG2 + PXN + + + gene with protein product + + + + ClinVar + PXDN + + + Ensembl + ENSG00000130508 + + + Genatlas + PXDN + + + HGNC + 14966 + + + OMIM + 605158 + + + SwissProt + Q92626 + + + Reactome + Q92626 + + + + + 2p25.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 22068589[PMID] + + atonal bHLH transcription factor 7 + ATOH7 + + Math5 + bHLHa13 + + + gene with protein product + + + + ClinVar + ATOH7 + + + Ensembl + ENSG00000179774 + + + Genatlas + ATOH7 + + + HGNC + 13907 + + + OMIM + 609875 + + + SwissProt + Q8N100 + + + + + 10q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 289513 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289513 + 12q15q21 microdeletion syndrome + + Etiological subtype + + + Subtype of disorder + + + + 31145527[PMID] + + CCR4-NOT transcription complex subunit 2 + CNOT2 + + CDC36 + NOT2H + CC chemokine receptor 4-negative regulator of transcription 2 + + + gene with protein product + + + + HGNC + 7878 + + + Ensembl + ENSG00000111596 + + + SwissProt + Q9NZN8 + + + Reactome + Q9NZN8 + + + OMIM + 604909 + + + + + 12q15 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 289465 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289465 + Isolated congenital adermatoglyphia + + Disease + + + Disorder + + + + 21820097[PMID] + + SNF2 related chromatin remodeling ATPase with DExD box 1 + SMARCAD1 + + DKFZP762K2015 + DKFZp762K2015 + ETL1 + KIAA1122 + + + gene with protein product + + + + ClinVar + SMARCAD1 + + + Ensembl + ENSG00000163104 + + + Genatlas + SMARCAD1 + + + HGNC + 18398 + + + OMIM + 612761 + + + SwissProt + Q9H4L7 + + + + + 4q22.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 289478 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289478 + PASH syndrome + + Disease + + + Disorder + + + + 25601011[PMID] + + nicastrin + NCSTN + + APH2 + KIAA0253 + + + gene with protein product + + + + Ensembl + ENSG00000162736 + + + Genatlas + NCSTN + + + HGNC + 17091 + + + OMIM + 605254 + + + Reactome + Q92542 + + + SwissProt + Q92542 + + + ClinVar + NCSTN + + + + + 1q23.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 289176 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289176 + Autosomal recessive hypophosphatemic rickets + + Disease + + + Disorder + + + + + + dentin matrix acidic phosphoprotein 1 + DMP1 + + + + gene with protein product + + + + Ensembl + ENSG00000152592 + + + Genatlas + DMP1 + + + HGNC + 2932 + + + OMIM + 600980 + + + Reactome + Q13316 + + + SwissProt + Q13316 + + + ClinVar + DMP1 + + + + + 4q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + ectonucleotide pyrophosphatase/phosphodiesterase 1 + ENPP1 + + PC-1 + PCA1 + + + gene with protein product + + + + IUPHAR + 3312 + + + Ensembl + ENSG00000197594 + + + Genatlas + ENPP1 + + + HGNC + 3356 + + + OMIM + 173335 + + + Reactome + P22413 + + + SwissProt + P22413 + + + ClinVar + ENPP1 + + + + + 6q23.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 289157 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289157 + Hypocalcemic vitamin D-dependent rickets + + Disease + + + Disorder + + + + + + cytochrome P450 family 27 subfamily B member 1 + CYP27B1 + + Calcidiol 1-monooxygenase + 1alpha(OH)ase + 25-Hydroxyvitamin D3 1alpha-hydroxylase + CYP1 + P450c1 + VDDR I + + + gene with protein product + + + + ClinVar + CYP27B1 + + + IUPHAR + 1370 + + + Ensembl + ENSG00000111012 + + + Genatlas + CYP27B1 + + + HGNC + 2606 + + + OMIM + 609506 + + + Reactome + O15528 + + + SwissProt + O15528 + + + + + 12q14.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + cytochrome P450 family 2 subfamily R member 1 + CYP2R1 + + Vitamin D 25-hydroxylase + + + gene with protein product + + + + ClinVar + CYP2R1 + + + IUPHAR + 1333 + + + Ensembl + ENSG00000186104 + + + Genatlas + CYP2R1 + + + HGNC + 20580 + + + OMIM + 608713 + + + Reactome + Q6VVX0 + + + SwissProt + Q6VVX0 + + + + + 11p15.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 281090 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281090 + Syndromic recessive X-linked ichthyosis + + Disease + + + Disorder + + + + 3165728[PMID]_10692123[PMID]_15888481[PMID]_18076704[PMID] + + steroid sulfatase + STS + + steryl-sulfatase + ARSC + arylsulfatase C + + + gene with protein product + + + + Ensembl + ENSG00000101846 + + + Genatlas + STS + + + HGNC + 11425 + + + OMIM + 300747 + + + Reactome + P08842 + + + SwissProt + P08842 + + + ClinVar + STS + + + + + Xp22.31 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 281190 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281190 + Congenital reticular ichthyosiform erythroderma + + Disease + + + Disorder + + + + 25774499[PMID] + + keratin 1 + KRT1 + + KRT1A + + + gene with protein product + + + + Ensembl + ENSG00000167768 + + + Genatlas + KRT1 + + + HGNC + 6412 + + + OMIM + 139350 + + + SwissProt + P04264 + + + ClinVar + KRT1 + + + Reactome + P04264 + + + + + 12q13.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20798280[PMID] + + keratin 10 + KRT10 + + CK10 + K10 + cytokeratin 10 + epidermolytic hyperkeratosis + + + gene with protein product + + + + Ensembl + ENSG00000186395 + + + Genatlas + KRT10 + + + HGNC + 6413 + + + OMIM + 148080 + + + SwissProt + P13645 + + + Reactome + P13645 + + + ClinVar + KRT10 + + + + + 17q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 281201 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281201 + Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome + + Disease + + + Disorder + + + + 20226437[PMID] + + proteasome maturation protein + POMP + + HSPC014 + UMP1 + proteassemblin + + + gene with protein product + + + + ClinVar + POMP + + + Ensembl + ENSG00000132963 + + + Genatlas + POMP + + + HGNC + 20330 + + + OMIM + 613386 + + + SwissProt + Q9Y244 + + + + + 13q12.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 281139 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281139 + Annular epidermolytic ichthyosis + + Disease + + + Disorder + + + + 9856845[PMID]_9036939[PMID] + + keratin 10 + KRT10 + + CK10 + K10 + cytokeratin 10 + epidermolytic hyperkeratosis + + + gene with protein product + + + + Ensembl + ENSG00000186395 + + + Genatlas + KRT10 + + + HGNC + 6413 + + + OMIM + 148080 + + + SwissProt + P13645 + + + Reactome + P13645 + + + ClinVar + KRT10 + + + + + 17q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 10053007[PMID] + + keratin 1 + KRT1 + + KRT1A + + + gene with protein product + + + + Ensembl + ENSG00000167768 + + + Genatlas + KRT1 + + + HGNC + 6412 + + + OMIM + 139350 + + + SwissProt + P04264 + + + ClinVar + KRT1 + + + Reactome + P04264 + + + + + 12q13.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 281122 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281122 + Self-improving collodion baby + + Disease + + + Disorder + + + + 19890349[PMID] + + arachidonate 12-lipoxygenase, 12R type + ALOX12B + + 12R-LOX + 12R-lipoxygenase + + + gene with protein product + + + + ClinVar + ALOX12B + + + Ensembl + ENSG00000179477 + + + Genatlas + ALOX12B + + + HGNC + 430 + + + OMIM + 603741 + + + Reactome + O75342 + + + SwissProt + O75342 + + + IUPHAR + 1386 + + + + + 17p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 19890349[PMID] + + arachidonate epidermal lipoxygenase 3 + ALOXE3 + + E-LOX + eLOX3 + Epidermal lipoxygenase-3 + hydroperoxy icosatetraenoate isomerase + hydroperoxy icosatetraenoate dehydratase + hydroperoxide isomerase + + + gene with protein product + + + + Reactome + Q9BYJ1 + + + Ensembl + ENSG00000179148 + + + Genatlas + ALOXE3 + + + HGNC + 13743 + + + OMIM + 607206 + + + SwissProt + Q9BYJ1 + + + IUPHAR + 1390 + + + ClinVar + ALOXE3 + + + + + 17p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 12542526[PMID]_19890349[PMID] + + transglutaminase 1 + TGM1 + + K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase + LI + LI1 + TGASE + TGK + + + gene with protein product + + + + ClinVar + TGM1 + + + Reactome + P22735 + + + Ensembl + ENSG00000092295 + + + Genatlas + TGM1 + + + HGNC + 11777 + + + OMIM + 190195 + + + SwissProt + P22735 + + + + + 14q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 281127 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281127 + Acral self-healing collodion baby + + Disease + + + Disorder + + + + 19500103[PMID] + + transglutaminase 1 + TGM1 + + K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase + LI + LI1 + TGASE + TGK + + + gene with protein product + + + + ClinVar + TGM1 + + + Reactome + P22735 + + + Ensembl + ENSG00000092295 + + + Genatlas + TGM1 + + + HGNC + 11777 + + + OMIM + 190195 + + + SwissProt + P22735 + + + + + 14q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 280628 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280628 + Familial progressive hyper- and hypopigmentation + + Disease + + + Disorder + + + + 21368769[PMID] + + KIT ligand + KITLG + + SLF + FPH2 + KL-1 + Kitl + SCF + SF + familial progressive hyperpigmentation 2 + mast cell growth factor + steel factor + stem cell factor + DFNA69 + + + gene with protein product + + + + Ensembl + ENSG00000049130 + + + Genatlas + KITLG + + + HGNC + 6343 + + + OMIM + 184745 + + + Reactome + P21583 + + + SwissProt + P21583 + + + ClinVar + KITLG + + + + + 12q21.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 280633 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280633 + Multiple congenital anomalies-hypotonia-seizures syndrome + + Malformation syndrome + + + Disorder + + + + 21493957[PMID] + + phosphatidylinositol glycan anchor biosynthesis class N + PIGN + + MDC4 + PIG-N + MCD4 + GPI ethanolamine phosphate transferase 1 + + + gene with protein product + + + + ClinVar + PIGN + + + Ensembl + ENSG00000197563 + + + Genatlas + PIGN + + + HGNC + 8967 + + + OMIM + 606097 + + + Reactome + O95427 + + + SwissProt + O95427 + + + + + 18q21.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 280615 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280615 + Low oxygen affinity gamma chain hemoglobin disease + + Etiological subtype + + + Subtype of disorder + + + + 21561349[PMID] + + hemoglobin subunit gamma 2 + HBG2 + + HBG-T1 + fetal hemoglobin F subunit gamma 2 + + + gene with protein product + + + + Ensembl + ENSG00000196565 + + + Genatlas + HBG2 + + + HGNC + 4832 + + + OMIM + 142250 + + + Reactome + P69892 + + + SwissProt + P69892 + + + ClinVar + HBG2 + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 280598 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280598 + Hereditary sensorimotor neuropathy with hyperelastic skin + + Disease + + + Disorder + + + + 21576112[PMID] + + fibulin 5 + FBLN5 + + ARMD3 + DANCE + EVEC + UP50 + developmental arteries and neural crest EGF-like + embryonic vascular EGF-like repeat-containing protein + + + gene with protein product + + + + ClinVar + FBLN5 + + + Ensembl + ENSG00000140092 + + + Genatlas + FBLN5 + + + HGNC + 3602 + + + OMIM + 604580 + + + Reactome + Q9UBX5 + + + SwissProt + Q9UBX5 + + + + + 14q32.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 280620 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280620 + Progressive myoclonic epilepsy type 6 + + Disease + + + Disorder + + + + 21549339[PMID] + + golgi SNAP receptor complex member 2 + GOSR2 + + Bos1 + GS27 + + + gene with protein product + + + + ClinVar + GOSR2 + + + Ensembl + ENSG00000108433 + + + Genatlas + GOSR2 + + + HGNC + 4431 + + + OMIM + 604027 + + + Reactome + O14653 + + + SwissProt + O14653 + + + + + 17q21.32 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 280671 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280671 + Megaconial congenital muscular dystrophy + + Disease + + + Disorder + + + + 21665002[PMID]_22782513[PMID] + + choline kinase beta + CHKB + + CHETK + + + gene with protein product + + + + ClinVar + CHKB + + + Ensembl + ENSG00000100288 + + + Genatlas + CHKB + + + HGNC + 1938 + + + OMIM + 612395 + + + Reactome + Q9Y259 + + + SwissProt + Q9Y259 + + + + + 22q13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 280640 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280640 + Occipital pachygyria and polymicrogyria + + Malformation syndrome + + + Disorder + + + + 21572413[PMID] + + laminin subunit gamma 3 + LAMC3 + + DKFZp434E202 + + + gene with protein product + + + + ClinVar + LAMC3 + + + Ensembl + ENSG00000050555 + + + Genatlas + LAMC3 + + + HGNC + 6494 + + + OMIM + 604349 + + + Reactome + Q9Y6N6 + + + SwissProt + Q9Y6N6 + + + + + 9q34.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 280654 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280654 + Autosomal recessive nail dysplasia + + Disease + + + Disorder + + + + 21665003[PMID] + + frizzled class receptor 6 + FZD6 + + Hfz6 + + + gene with protein product + + + + ClinVar + FZD6 + + + Ensembl + ENSG00000164930 + + + Genatlas + FZD6 + + + HGNC + 4044 + + + IUPHAR + 234 + + + OMIM + 603409 + + + Reactome + O60353 + + + SwissProt + O60353 + + + + + 8q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 280785 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280785 + Bullous diffuse cutaneous mastocytosis + + Clinical subtype + + + Subtype of disorder + + + + 15173254[PMID] + + KIT proto-oncogene, receptor tyrosine kinase + KIT + + C-Kit + CD117 + SCFR + mast/stem cell growth factor receptor Kit + + + gene with protein product + + + + ClinVar + KIT + + + Ensembl + ENSG00000157404 + + + Genatlas + KIT + + + HGNC + 6342 + + + IUPHAR + 1805 + + + OMIM + 164920 + + + Reactome + P10721 + + + SwissProt + P10721 + + + + + 4q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 280794 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280794 + Pseudoxanthomatous diffuse cutaneous mastocytosis + + Clinical subtype + + + Subtype of disorder + + + + 15173254[PMID] + + KIT proto-oncogene, receptor tyrosine kinase + KIT + + C-Kit + CD117 + SCFR + mast/stem cell growth factor receptor Kit + + + gene with protein product + + + + ClinVar + KIT + + + Ensembl + ENSG00000157404 + + + Genatlas + KIT + + + HGNC + 6342 + + + IUPHAR + 1805 + + + OMIM + 164920 + + + Reactome + P10721 + + + SwissProt + P10721 + + + + + 4q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 280679 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280679 + Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome + + Disease + + + Disorder + + + + 21596366[PMID] + + BRCA1/BRCA2-containing complex subunit 3 + BRCC3 + + BRCC36 + C6.1A + Lys-63-specific deubiquitinase + + + gene with protein product + + + + Ensembl + ENSG00000185515 + + + Genatlas + BRCC3 + + + HGNC + 24185 + + + OMIM + 300617 + + + Reactome + P46736 + + + SwissProt + P46736 + + + ClinVar + BRCC3 + + + + + Xq28 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 280763 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280763 + Severe intellectual disability and progressive spastic paraplegia + + Disease + + + Disorder + + + + 19559397[PMID] + + adaptor related protein complex 4 subunit mu 1 + AP4M1 + + AP-4 adapter complex mu subunit + MU-4 + MU-ARP2 + SPG50 + adaptor-related protein complex AP-4 mu4 subunit + mu subunit of AP-4 + mu-adaptin-related protein-2 + + + gene with protein product + + + + ClinVar + AP4M1 + + + Ensembl + ENSG00000221838 + + + Genatlas + AP4M1 + + + HGNC + 574 + + + OMIM + 602296 + + + Reactome + O00189 + + + SwissProt + O00189 + + + + + 7q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20972249[PMID]_21620353[PMID] + + adaptor related protein complex 4 subunit epsilon 1 + AP4E1 + + AP-4-EPSILON + SPG51 + + + gene with protein product + + + + ClinVar + AP4E1 + + + Ensembl + ENSG00000081014 + + + Genatlas + AP4E1 + + + HGNC + 573 + + + OMIM + 607244 + + + Reactome + Q9UPM8 + + + SwissProt + Q9UPM8 + + + + + 15q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22290197[PMID]_21620353[PMID] + + adaptor related protein complex 4 subunit beta 1 + AP4B1 + + AP-4 complex subunit beta-1 + BETA-4 + beta 4 subunit of AP-4 + + + gene with protein product + + + + Ensembl + ENSG00000134262 + + + Genatlas + AP4B1 + + + HGNC + 572 + + + OMIM + 607245 + + + Reactome + Q9Y6B7 + + + SwissProt + Q9Y6B7 + + + ClinVar + AP4B1 + + + + + 1p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21620353[PMID] + + adaptor related protein complex 4 subunit sigma 1 + AP4S1 + + AP47B + CLA20 + SPG52 + + + gene with protein product + + + + ClinVar + AP4S1 + + + Genatlas + AP4S1 + + + HGNC + 575 + + + OMIM + 607243 + + + Reactome + Q9Y587 + + + SwissProt + Q9Y587 + + + Ensembl + ENSG00000100478 + + + + + 14q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 284149 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284149 + Craniosynostosis-dental anomalies + + Malformation syndrome + + + Disorder + + + + 21741611[PMID] + + interleukin 11 receptor subunit alpha + IL11RA + + + + gene with protein product + + + + ClinVar + IL11RA + + + Ensembl + ENSG00000137070 + + + Genatlas + IL11RA + + + HGNC + 5967 + + + IUPHAR + 1709 + + + OMIM + 600939 + + + Reactome + Q14626 + + + SwissProt + Q14626 + + + + + 9p13.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 284139 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284139 + Larsen-like syndrome, B3GAT3 type + + Malformation syndrome + + + Disorder + + + + 21763480[PMID] + + beta-1,3-glucuronyltransferase 3 + B3GAT3 + + GlcAT-I + galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 + glucuronosyltransferase I + + + gene with protein product + + + + Ensembl + ENSG00000149541 + + + Genatlas + B3GAT3 + + + HGNC + 923 + + + OMIM + 606374 + + + Reactome + O94766 + + + SwissProt + O94766 + + + ClinVar + B3GAT3 + + + + + 11q12.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 284169 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284169 + Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion + + Clinical subtype + + + Subtype of disorder + + + + 21522184[PMID]_26264232[PMID] + + WW domain containing adaptor with coiled-coil + WAC + + MGC10753 + Wwp4 + FLJ31290 + BM-016 + PRO1741 + + + gene with protein product + + + + Ensembl + ENSG00000095787 + + + Reactome + Q9BTA9 + + + HGNC + 17327 + + + SwissProt + Q9BTA9 + + + ClinVar + WAC + + + OMIM + 615049 + + + Genatlas + WAC + + + + + 10p12.1 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 284247 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284247 + Familial retinal arterial macroaneurysm + + Malformation syndrome + + + Disorder + + + + 21835307[PMID] + + insulin like growth factor binding protein 7 + IGFBP7 + + FSTL2 + IGFBP-7 + MAC25 + PSF + + + gene with protein product + + + + ClinVar + IGFBP7 + + + Ensembl + ENSG00000163453 + + + Genatlas + IGFBP7 + + + HGNC + 5476 + + + OMIM + 602867 + + + Reactome + Q16270 + + + SwissProt + Q16270 + + + + + 4q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 284232 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284232 + Autosomal dominant Charcot-Marie-Tooth disease type 2O + + Disease + + + Disorder + + + + 20301462[PMID]_21820100[PMID] + + dynein cytoplasmic 1 heavy chain 1 + DYNC1H1 + + CMT2O + DHC1 + Dnchc1 + HL-3 + p22 + + + gene with protein product + + + + Ensembl + ENSG00000197102 + + + Genatlas + DYNC1H1 + + + HGNC + 2961 + + + OMIM + 600112 + + + Reactome + Q14204 + + + SwissProt + Q14204 + + + ClinVar + DYNC1H1 + + + + + 14q32.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 284271 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284271 + Autosomal recessive cerebellar ataxia-psychomotor delay syndrome + + Disease + + + Disorder + + + + 21835308[PMID] + + synaptotagmin 14 + SYT14 + + FLJ34198 + sytXIV + + + gene with protein product + + + + ClinVar + SYT14 + + + Ensembl + ENSG00000143469 + + + Genatlas + SYT14 + + + HGNC + 23143 + + + OMIM + 610949 + + + SwissProt + Q8NB59 + + + + + 1q32.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 284324 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284324 + Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia + + Disease + + + Disorder + + + + 23418007[PMID] + + tripeptidyl peptidase 1 + TPP1 + + TPP I + LPIC + lysosomal pepstatin-insensitive carboxypeptidase + TPP-1 + + + gene with protein product + + + + SwissProt + O14773 + + + Ensembl + ENSG00000166340 + + + Genatlas + TPP1 + + + HGNC + 2073 + + + OMIM + 607998 + + + Reactome + O14773 + + + ClinVar + TPP1 + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 284282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284282 + Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency + + Disease + + + Disorder + + + + 24369382[PMID] + + WW domain containing oxidoreductase + WWOX + + WOX1 + short chain dehydrogenase/reductase family 41C, member 1 + FOR + SDR41C1 + + + gene with protein product + + + + Ensembl + ENSG00000186153 + + + Genatlas + WWOX + + + HGNC + 12799 + + + OMIM + 605131 + + + Reactome + Q9NZC7 + + + SwissProt + Q9NZC7 + + + ClinVar + WWOX + + + + + 16q23.1-q23.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 284289 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284289 + Adult-onset autosomal recessive cerebellar ataxia + + Disease + + + Disorder + + + + 21092923[PMID] + + anoctamin 10 + ANO10 + + FLJ10375 + MGC47890 + SCAR10 + + + gene with protein product + + + + ClinVar + ANO10 + + + HGNC + 25519 + + + OMIM + 613726 + + + Reactome + Q9NW15 + + + SwissProt + Q9NW15 + + + Ensembl + ENSG00000160746 + + + Genatlas + ANO10 + + + + + 3p22.1-p21.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 284343 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284343 + DICER1 tumor-predisposition syndrome + + Disease + + + Disorder + + + + 21266384[PMID]_24761742[PMID] + + dicer 1, ribonuclease III + DICER1 + + Dicer + HERNA + K12H4.8-LIKE + KIAA0928 + dicer 1, double-stranded RNA-specific endoribonuclease + + + gene with protein product + + + + ClinVar + DICER1 + + + Ensembl + ENSG00000100697 + + + Genatlas + DICER1 + + + HGNC + 17098 + + + OMIM + 606241 + + + Reactome + Q9UPY3 + + + SwissProt + Q9UPY3 + + + + + 14q32.13 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 284339 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284339 + Pontocerebellar hypoplasia type 7 + + Malformation syndrome + + + Disorder + + + + 28092684[PMID] + + target of EGR1, exonuclease + TOE1 + + hCaf1z + TOE-1 + + + gene with protein product + + + + Reactome + Q96GM8 + + + HGNC + 15954 + + + Ensembl + ENSG00000132773 + + + SwissProt + Q96GM8 + + + OMIM + 613931 + + + Genatlas + TOE1 + + + ClinVar + TOE1 + + + + + 1p34.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 33168985[PMID] + + multiple inositol-polyphosphate phosphatase 1 + MINPP1 + + MIPP + + + gene with protein product + + + + HGNC + 7102 + + + Ensembl + ENSG00000107789 + + + OMIM + 605391 + + + Genatlas + MINPP1 + + + Reactome + Q9UNW1 + + + SwissProt + Q9UNW1 + + + ClinVar + MINPP1 + + + + + 10q23.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 284411 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284411 + Glycerol kinase deficiency, juvenile form + + Clinical subtype + + + Subtype of disorder + + + + 8651297[PMID] + + glycerol kinase + GK + + GK1 + GKD + + + gene with protein product + + + + SwissProt + P32189 + + + ClinVar + GK + + + Ensembl + ENSG00000198814 + + + Genatlas + GK + + + HGNC + 4289 + + + OMIM + 300474 + + + Reactome + P32189 + + + + + Xp21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 282166 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282166 + Inherited Creutzfeldt-Jakob disease + + Disease + + + Disorder + + + + 10790216[PMID]_20301407[PMID] + + prion protein (Kanno blood group) + PRNP + + AltPrP + CD230 + Creutzfeldt-Jakob disease + Gerstmann-Strausler-Scheinker syndrome + PRP + fatal familial insomnia + p27-30 + + + gene with protein product + + + + ClinVar + PRNP + + + Ensembl + ENSG00000171867 + + + Genatlas + PRNP + + + HGNC + 9449 + + + OMIM + 176640 + + + Reactome + P04156 + + + SwissProt + P04156 + + + + + 20p13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 309854 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309854 + Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome + + Disease + + + Disorder + + + + 22341972[PMID] + + solute carrier family 30 member 10 + SLC30A10 + + DKFZp547M236 + ZNT8 + ZRC1 + Zinc transporter 8 + ZnT-10 + zinc resistance conferring homolog (S. cerevisiae) + zinc transporter 10 + ZNT10 + zinc transporter 8 + + + gene with protein product + + + + ClinVar + SLC30A10 + + + Ensembl + ENSG00000196660 + + + Genatlas + SLC30A10 + + + HGNC + 25355 + + + OMIM + 611146 + + + SwissProt + Q6XR72 + + + Reactome + Q6XR72 + + + IUPHAR + 1130 + + + + + 1q41 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 309803 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309803 + Rhizomelic chondrodysplasia punctata type 3 + + Etiological subtype + + + Subtype of disorder + + + + 21990100[PMID] + + alkylglycerone phosphate synthase + AGPS + + ADAP-S + ADAS + ADHAPS + ADPS + ALDHPSY + Alkyldihydroxyacetonephosphate synthase, peroxisomal + + + gene with protein product + + + + Ensembl + ENSG00000018510 + + + Genatlas + AGPS + + + HGNC + 327 + + + OMIM + 603051 + + + Reactome + O00116 + + + SwissProt + O00116 + + + ClinVar + AGPS + + + + + 2q31.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 309789 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309789 + Rhizomelic chondrodysplasia punctata type 1 + + Etiological subtype + + + Subtype of disorder + + + + 21990100[PMID] + + peroxisomal biogenesis factor 7 + PEX7 + + PTS2R + RD + Refsum disease + + + gene with protein product + + + + Genatlas + PEX7 + + + HGNC + 8860 + + + OMIM + 601757 + + + SwissProt + O00628 + + + Ensembl + ENSG00000112357 + + + ClinVar + PEX7 + + + + + 6q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 309796 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309796 + Rhizomelic chondrodysplasia punctata type 2 + + Etiological subtype + + + Subtype of disorder + + + + 21990100[PMID] + + glyceronephosphate O-acyltransferase + GNPAT + + DAP-AT + DAPAT + DHAPAT + dihydroxyacetone phosphate acyltransferase + glycerone-phosphate O-acyltransferase + + + gene with protein product + + + + ClinVar + GNPAT + + + Ensembl + ENSG00000116906 + + + Genatlas + GNPAT + + + HGNC + 4416 + + + OMIM + 602744 + + + Reactome + O15228 + + + SwissProt + O15228 + + + + + 1q42.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 314029 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314029 + High bone mass osteogenesis imperfecta + + Disease + + + Disorder + + + + 21344539[PMID] + + collagen type I alpha 1 chain + COL1A1 + + OI4 + + + gene with protein product + + + + ClinVar + COL1A1 + + + Ensembl + ENSG00000108821 + + + Genatlas + COL1A1 + + + HGNC + 2197 + + + OMIM + 120150 + + + Reactome + P02452 + + + SwissProt + P02452 + + + + + 17q21.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21344539[PMID] + + collagen type I alpha 2 chain + COL1A2 + + alpha 2(I)-collagen + alpha-2 collagen type I + collagen I, alpha-2 polypeptide + collagen of skin, tendon and bone, alpha-2 chain + type I procollagen + + + gene with protein product + + + + ClinVar + COL1A2 + + + OMIM + 120160 + + + Reactome + P08123 + + + SwissProt + P08123 + + + Ensembl + ENSG00000164692 + + + Genatlas + COL1A2 + + + HGNC + 2198 + + + + + 7q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 27264419[PMID]_22482805[PMID + + bone morphogenetic protein 1 + BMP1 + + BMP-1 + tolloid-like + + + gene with protein product + + + + Ensembl + ENSG00000168487 + + + Genatlas + BMP1 + + + HGNC + 1067 + + + IUPHAR + 2333 + + + OMIM + 112264 + + + Reactome + P13497 + + + SwissProt + P13497 + + + ClinVar + BMP1 + + + + + 8p21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 314022 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314022 + Gastric adenocarcinoma and proximal polyposis of the stomach + + Disease + + + Disorder + + + + 27087319[PMID] + + APC regulator of Wnt signaling pathway + APC + + DP2 + DP2.5 + DP3 + PPP1R46 + protein phosphatase 1, regulatory subunit 46 + + + gene with protein product + + + + Ensembl + ENSG00000134982 + + + Genatlas + APC + + + HGNC + 583 + + + OMIM + 611731 + + + Reactome + P25054 + + + SwissProt + P25054 + + + ClinVar + APC + + + + + 5q22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 313892 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313892 + Developmental and speech delay due to SOX5 deficiency + + Clinical subtype + + + Subtype of disorder + + + + 22290657[PMID] + + SRY-box transcription factor 5 + SOX5 + + L-SOX5 + MGC35153 + + + gene with protein product + + + + Reactome + P35711 + + + Ensembl + ENSG00000134532 + + + Genatlas + SOX5 + + + HGNC + 11201 + + + OMIM + 604975 + + + SwissProt + P35711 + + + ClinVar + SOX5 + + + + + 12p12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 313884 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313884 + 12p12.1 microdeletion syndrome + + Clinical subtype + + + Subtype of disorder + + + + 22290657[PMID] + + SRY-box transcription factor 5 + SOX5 + + L-SOX5 + MGC35153 + + + gene with protein product + + + + Reactome + P35711 + + + Ensembl + ENSG00000134532 + + + Genatlas + SOX5 + + + HGNC + 11201 + + + OMIM + 604975 + + + SwissProt + P35711 + + + ClinVar + SOX5 + + + + + 12p12.1 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 313855 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313855 + FGFR2-related bent bone dysplasia + + Disease + + + Disorder + + + + 22387015[PMID] + + fibroblast growth factor receptor 2 + FGFR2 + + CD332 + CEK3 + Crouzon syndrome + ECT1 + K-SAM + Pfeiffer syndrome + TK14 + TK25 + + + gene with protein product + + + + Ensembl + ENSG00000066468 + + + Genatlas + FGFR2 + + + HGNC + 3689 + + + IUPHAR + 1809 + + + OMIM + 176943 + + + Reactome + P21802 + + + SwissProt + P21802 + + + ClinVar + FGFR2 + + + + + 10q26.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 313850 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850 + Infantile cerebellar-retinal degeneration + + Disease + + + Disorder + + + + 22405087[PMID] + + aconitase 2 + ACO2 + + ACONM + aconitate hydratase, mitochondrial + mitochondrial aconitase + + + gene with protein product + + + + Ensembl + ENSG00000100412 + + + Genatlas + ACO2 + + + HGNC + 118 + + + OMIM + 100850 + + + Reactome + Q99798 + + + SwissProt + Q99798 + + + ClinVar + ACO2 + + + + + 22q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 313846 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313846 + Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome + + Disease + + + Disorder + + + + 22341969[PMID] + + ATR checkpoint kinase + ATR + + FRP1 + MEC1 + MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae) + SCKL + SCKL1 + + + gene with protein product + + + + Ensembl + ENSG00000175054 + + + Genatlas + ATR + + + HGNC + 882 + + + IUPHAR + 1935 + + + OMIM + 601215 + + + Reactome + Q13535 + + + SwissProt + Q13535 + + + ClinVar + ATR + + + + + 3q23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 313838 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313838 + Coats plus syndrome + + Disease + + + Disorder + + + + 22267198[PMID] + + CST telomere replication complex component 1 + CTC1 + + conserved telomere maintenance component 1 + conserved telomere capping protein 1 + AAF132 + FLJ22170 + alpha accessory factor 132 + + + gene with protein product + + + + Ensembl + ENSG00000178971 + + + Genatlas + CTC1 + + + HGNC + 26169 + + + OMIM + 613129 + + + SwissProt + Q2NKJ3 + + + ClinVar + CTC1 + + + + + 17p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 25957586[PMID] + + STN1 subunit of CST complex + STN1 + + FLJ22559 + bA541N10.2 + + + gene with protein product + + + + Reactome + Q9H668 + + + ClinVar + OBFC1 + + + Ensembl + ENSG00000107960 + + + Genatlas + OBFC1 + + + HGNC + 26200 + + + OMIM + 613128 + + + SwissProt + Q9H668 + + + + + 10q24.33 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 313800 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313800 + Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome + + Disease + + + Disorder + + + + 30967659[PMID] + + alpha kinase 1 + ALPK1 + + lymphocyte alpha-kinase + FLJ22670 + KIAA1527 + Lak + + + gene with protein product + + + + HGNC + 20917 + + + Ensembl + ENSG00000073331 + + + OMIM + 607347 + + + SwissProt + Q96QP1 + + + IUPHAR + 1930 + + + + + 4q25 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 313808 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313808 + Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia + + Disease + + + Disorder + + + + 27749956[PMID] + + alanyl-tRNA synthetase 2, mitochondrial + AARS2 + + bA444E17.1 + KIAA1270 + alanine tRNA ligase 2, mitochondrial + + + gene with protein product + + + + Ensembl + ENSG00000124608 + + + Genatlas + AARS2 + + + HGNC + 21022 + + + OMIM + 612035 + + + Reactome + Q5JTZ9 + + + SwissProt + Q5JTZ9 + + + ClinVar + AARS2 + + + + + 6p21.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 22197934[PMID] + + colony stimulating factor 1 receptor + CSF1R + + C-FMS + CD115 + CSFR + + + gene with protein product + + + + Reactome + P07333 + + + Ensembl + ENSG00000182578 + + + Genatlas + CSF1R + + + HGNC + 2433 + + + IUPHAR + 1806 + + + OMIM + 164770 + + + SwissProt + P07333 + + + ClinVar + CSF1R + + + + + 5q32 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 313795 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313795 + Jawad syndrome + + Malformation syndrome + + + Disorder + + + + + + RB binding protein 8, endonuclease + RBBP8 + + COM1 + CTBP-interacting protein + CtIP + RIM + + + gene with protein product + + + + SwissProt + Q99708 + + + Ensembl + ENSG00000101773 + + + Genatlas + RBBP8 + + + HGNC + 9891 + + + OMIM + 604124 + + + Reactome + Q99708 + + + ClinVar + RBBP8 + + + + + 18q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 313772 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313772 + Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome + + Disease + + + Disorder + + + + 22022284[PMID] + + AFG3 like matrix AAA peptidase subunit 2 + AFG3L2 + + SPAX5 + + + gene with protein product + + + + Reactome + Q9Y4W6 + + + Ensembl + ENSG00000141385 + + + Genatlas + AFG3L2 + + + HGNC + 315 + + + OMIM + 604581 + + + SwissProt + Q9Y4W6 + + + ClinVar + AFG3L2 + + + + + 18p11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 314603 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314603 + Autosomal recessive spastic ataxia with leukoencephalopathy + + Disease + + + Disorder + + + + 22448145[PMID] + + methionyl-tRNA synthetase 2, mitochondrial + MARS2 + + Methionine tRNA ligase 2, mitochondrial + SPAX3 + mtMetRS + methionine tRNA ligase 2, mitochondrial + + + gene with protein product + + + + Ensembl + ENSG00000247626 + + + Genatlas + MARS2 + + + HGNC + 25133 + + + OMIM + 609728 + + + Reactome + Q96GW9 + + + SwissProt + Q96GW9 + + + ClinVar + mars-02 + + + + + 2q33.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 314597 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314597 + Chudley-McCullough syndrome + + Malformation syndrome + + + Disorder + + + + 22578326[PMID] + + G protein signaling modulator 2 + GPSM2 + + LGN + Pins + + + gene with protein product + + + + Reactome + P81274 + + + ClinVar + GPSM2 + + + SwissProt + P81274 + + + Ensembl + ENSG00000121957 + + + Genatlas + GPSM2 + + + HGNC + 29501 + + + OMIM + 609245 + + + + + 1p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 314485 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314485 + Young adult-onset distal hereditary motor neuropathy + + Disease + + + Disorder + + + + 22522442[PMID] + + DnaJ heat shock protein family (Hsp40) member B2 + DNAJB2 + + CMT2T + HSPF3 + + + gene with protein product + + + + Ensembl + ENSG00000135924 + + + Genatlas + DNAJB2 + + + HGNC + 5228 + + + OMIM + 604139 + + + SwissProt + P25686 + + + ClinVar + DNAJB2 + + + + + 2q35 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 33559681[PMID] + + von Willebrand factor A domain containing 1 + VWA1 + + WARP + VWA-1 + FLJ22215 + + + gene with protein product + + + + SwissProt + Q6PCB0 + + + OMIM + 611901 + + + Ensembl + ENSG00000179403 + + + HGNC + 30910 + + + + + 1p36.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 314555 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314555 + Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome + + Malformation syndrome + + + Disorder + + + + 22581230[PMID] + + iroquois homeobox 5 + IRX5 + + IRX-2a + + + gene with protein product + + + + Genatlas + IRX5 + + + HGNC + 14361 + + + OMIM + 606195 + + + SwissProt + P78411 + + + Ensembl + ENSG00000176842 + + + ClinVar + IRX5 + + + + + 16q12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 314394 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314394 + Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome + + Disease + + + Disorder + + + + 22840363[PMID]_22840364[PMID] + + POC1 centriolar protein A + POC1A + + DKFZP434C245 + + + gene with protein product + + + + Ensembl + ENSG00000164087 + + + Genatlas + POC1A + + + HGNC + 24488 + + + OMIM + 614783 + + + SwissProt + Q8NBT0 + + + ClinVar + POC1A + + + Reactome + Q8NBT0 + + + + + 3p21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 314399 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314399 + Autosomal dominant aplasia and myelodysplasia + + Disease + + + Disorder + + + + 22541560[PMID] + + signal recognition particle 72 + SRP72 + + + + gene with protein product + + + + Ensembl + ENSG00000174780 + + + Genatlas + SRP72 + + + HGNC + 11303 + + + OMIM + 602122 + + + Reactome + O76094 + + + SwissProt + O76094 + + + ClinVar + SRP72 + + + + + 4q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 314404 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314404 + Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome + + Disease + + + Disorder + + + + 22328086[PMID] + + DNA methyltransferase 1 + DNMT1 + + CXXC9 + MCMT + + + gene with protein product + + + + ClinVar + DNMT1 + + + Ensembl + ENSG00000130816 + + + Genatlas + DNMT1 + + + HGNC + 2976 + + + IUPHAR + 2605 + + + OMIM + 126375 + + + Reactome + P26358 + + + SwissProt + P26358 + + + + + 19p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 314373 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314373 + Chronic infantile diarrhea due to guanylate cyclase 2C overactivity + + Disease + + + Disorder + + + + 22436048[PMID] + + guanylate cyclase 2C + GUCY2C + + HSER + Guanylyl cyclase C + GCC + GC-C + STA receptor + STAR + heat stable enterotoxin receptor + + + gene with protein product + + + + Ensembl + ENSG00000070019 + + + Genatlas + GUCY2C + + + HGNC + 4688 + + + IUPHAR + 1750 + + + OMIM + 601330 + + + SwissProt + P25092 + + + ClinVar + GUCY2C + + + Reactome + P25092 + + + + + 12p12.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 314376 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314376 + Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency + + Disease + + + Disorder + + + + 22521417[PMID] + + guanylate cyclase 2C + GUCY2C + + HSER + Guanylyl cyclase C + GCC + GC-C + STA receptor + STAR + heat stable enterotoxin receptor + + + gene with protein product + + + + Ensembl + ENSG00000070019 + + + Genatlas + GUCY2C + + + HGNC + 4688 + + + IUPHAR + 1750 + + + OMIM + 601330 + + + SwissProt + P25092 + + + ClinVar + GUCY2C + + + Reactome + P25092 + + + + + 12p12.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 314381 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314381 + Hereditary sensory and autonomic neuropathy type 6 + + Disease + + + Disorder + + + + 22522446[PMID] + + dystonin + DST + + BP240 + BPA + CATX-15 + FLJ13425 + FLJ21489 + FLJ30627 + FLJ32235 + KIAA0728 + MACF2 + + + gene with protein product + + + + Ensembl + ENSG00000151914 + + + Genatlas + DST + + + HGNC + 1090 + + + OMIM + 113810 + + + Reactome + Q03001 + + + SwissProt + Q03001 + + + ClinVar + DST + + + + + 6p12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 314051 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314051 + Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome + + Disease + + + Disorder + + + + 22492562[PMID]_24501781[PMID] + + glutamyl-tRNA synthetase 2, mitochondrial + EARS2 + + KIAA1970 + MSE1 + glutamate tRNA ligase 2, mitochondrial + mtGlnRS + + + gene with protein product + + + + Reactome + Q5JPH6 + + + SwissProt + Q5JPH6 + + + Ensembl + ENSG00000103356 + + + Genatlas + EARS2 + + + HGNC + 29419 + + + OMIM + 612799 + + + ClinVar + EARS2 + + + + + 16p12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 306674 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306674 + Kufor-Rakeb syndrome + + Disease + + + Disorder + + + + 2276817[PMID]_22166458[PMID] + + ATPase cation transporting 13A2 + ATP13A2 + + CLN12 + HSA9947 + + + gene with protein product + + + + IUPHAR + 3156 + + + ClinVar + ATP13A2 + + + Ensembl + ENSG00000159363 + + + Genatlas + ATP13A2 + + + HGNC + 30213 + + + OMIM + 610513 + + + Reactome + Q9NQ11 + + + SwissProt + Q9NQ11 + + + + + 1p36.13 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 306734 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306734 + Primary dystonia, DYT21 type + + Disease + + + Disorder + + + + 21301909[PMID] + + dystonia 21, torsion (autosomal dominant) + DYT21 + + + + Disorder-associated locus + + + + HGNC + 39436 + + + + + 2q14.3-q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 308380 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308380 + Methylcobalamin deficiency type cblDv1 + + Clinical subtype + + + Subtype of disorder + + + + 18385497[PMID] + + metabolism of cobalamin associated D + MMADHC + + CL25022 + cblD + + + gene with protein product + + + + Ensembl + ENSG00000168288 + + + Genatlas + MMADHC + + + HGNC + 25221 + + + OMIM + 611935 + + + Reactome + Q9H3L0 + + + SwissProt + Q9H3L0 + + + ClinVar + MMADHC + + + + + 2q23.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 308386 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308386 + Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A + + Etiological subtype + + + Subtype of disorder + + + + + + molybdenum cofactor synthesis 1 + MOCS1 + + MOCOD + MOCS1A + MOCS1B + + + gene with protein product + + + + Ensembl + ENSG00000124615 + + + Genatlas + MOCS1 + + + HGNC + 7190 + + + OMIM + 603707 + + + Reactome + Q9NZB8 + + + SwissProt + Q9NZB8 + + + ClinVar + MOCS1 + + + + + 6p21.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 308393 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308393 + Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B + + Etiological subtype + + + Subtype of disorder + + + + + + molybdenum cofactor synthesis 2 + MOCS2 + + MOCO1 + MOCS2B + MOCS2A + molybdopterin synthase large subunit + molybdopterin synthase small subunit + molybdopterin synthase catalytic subunit + + + gene with protein product + + + + SwissProt + O96007 + + + Ensembl + ENSG00000164172 + + + Genatlas + MOCS2 + + + HGNC + 7193 + + + OMIM + 603708 + + + Reactome + O96007 + + + ClinVar + MOCS2 + + + Reactome + O96033 + + + SwissProt + O96033 + + + + + 5q11.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 308400 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308400 + Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C + + Etiological subtype + + + Subtype of disorder + + + + + + gephyrin + GPHN + + GEPH + KIAA1385 + GPH + + + gene with protein product + + + + ClinVar + GPHN + + + OMIM + 603930 + + + Reactome + Q9NQX3 + + + SwissProt + Q9NQX3 + + + Ensembl + ENSG00000171723 + + + Genatlas + GPHN + + + HGNC + 15465 + + + + + 14q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 308410 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308410 + Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency + + Disease + + + Disorder + + + + 22956686[PMID] + + branched chain keto acid dehydrogenase kinase + BCKDK + + + + gene with protein product + + + + ClinVar + BCKDK + + + Ensembl + ENSG00000103507 + + + Genatlas + BCKDK + + + HGNC + 16902 + + + IUPHAR + 1939 + + + OMIM + 614901 + + + Reactome + O14874 + + + SwissProt + O14874 + + + + + 16p11.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 308425 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308425 + Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency + + Disease + + + Disorder + + + + + + methylmalonyl-CoA epimerase + MCEE + + GLOD2 + glyoxalase domain containing 2 + MMCE + MCE + methylmalonyl CoA isomerase + + + gene with protein product + + + + Ensembl + ENSG00000124370 + + + Genatlas + MCEE + + + HGNC + 16732 + + + OMIM + 608419 + + + Reactome + Q96PE7 + + + SwissProt + Q96PE7 + + + ClinVar + MCEE + + + + + 2p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 308698 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308698 + Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form + + Clinical subtype + + + Subtype of disorder + + + + + + 1,4-alpha-glucan branching enzyme 1 + GBE1 + + Andersen disease + glycogen branching enzyme + glycogen storage disease type IV + + + gene with protein product + + + + ClinVar + GBE1 + + + OMIM + 607839 + + + Reactome + Q04446 + + + SwissProt + Q04446 + + + Ensembl + ENSG00000114480 + + + Genatlas + GBE1 + + + HGNC + 4180 + + + + + 3p12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 308712 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308712 + Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form + + Clinical subtype + + + Subtype of disorder + + + + + + 1,4-alpha-glucan branching enzyme 1 + GBE1 + + Andersen disease + glycogen branching enzyme + glycogen storage disease type IV + + + gene with protein product + + + + ClinVar + GBE1 + + + OMIM + 607839 + + + Reactome + Q04446 + + + SwissProt + Q04446 + + + Ensembl + ENSG00000114480 + + + Genatlas + GBE1 + + + HGNC + 4180 + + + + + 3p12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 308670 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308670 + Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form + + Clinical subtype + + + Subtype of disorder + + + + + + 1,4-alpha-glucan branching enzyme 1 + GBE1 + + Andersen disease + glycogen branching enzyme + glycogen storage disease type IV + + + gene with protein product + + + + ClinVar + GBE1 + + + OMIM + 607839 + + + Reactome + Q04446 + + + SwissProt + Q04446 + + + Ensembl + ENSG00000114480 + + + Genatlas + GBE1 + + + HGNC + 4180 + + + + + 3p12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 308684 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308684 + Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form + + Clinical subtype + + + Subtype of disorder + + + + + + 1,4-alpha-glucan branching enzyme 1 + GBE1 + + Andersen disease + glycogen branching enzyme + glycogen storage disease type IV + + + gene with protein product + + + + ClinVar + GBE1 + + + OMIM + 607839 + + + Reactome + Q04446 + + + SwissProt + Q04446 + + + Ensembl + ENSG00000114480 + + + Genatlas + GBE1 + + + HGNC + 4180 + + + + + 3p12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 309015 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309015 + Familial lipoprotein lipase deficiency + + Etiological subtype + + + Subtype of disorder + + + + 24589565[PMID] + + lipoprotein lipase + LPL + + + + gene with protein product + + + + ClinVar + LPL + + + Reactome + P06858 + + + SwissProt + P06858 + + + Ensembl + ENSG00000175445 + + + Genatlas + LPL + + + HGNC + 6677 + + + OMIM + 609708 + + + + + 8p21.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 309020 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309020 + Familial apolipoprotein C-II deficiency + + Etiological subtype + + + Subtype of disorder + + + + 24589565[PMID] + + apolipoprotein C2 + APOC2 + + + + gene with protein product + + + + OMIM + 608083 + + + Reactome + P02655 + + + SwissProt + P02655 + + + Ensembl + ENSG00000234906 + + + Genatlas + APOC2 + + + HGNC + 609 + + + ClinVar + APOC2 + + + + + 19q13.32 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 308487 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308487 + Generalized galactose epimerase deficiency + + Clinical subtype + + + Subtype of disorder + + + + + + UDP-galactose-4-epimerase + GALE + + SDR1E1 + UDP-glucose 4-epimerase + short chain dehydrogenase/reductase family 1E, member 1 + + + gene with protein product + + + + ClinVar + GALE + + + Ensembl + ENSG00000117308 + + + Genatlas + GALE + + + HGNC + 4116 + + + OMIM + 606953 + + + Reactome + Q14376 + + + SwissProt + Q14376 + + + + + 1p36.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 178 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178 + Chordoma + + Disease + + + Disorder + + + + 35762214[PMID] + + partner and localizer of BRCA2 + PALB2 + + Fanconi anemia, complementation group N + FANCN + FLJ21816 + + + gene with protein product + + + + ClinVar + PALB2 + + + Ensembl + ENSG00000083093 + + + Genatlas + PALB2 + + + HGNC + 26144 + + + OMIM + 610355 + + + Reactome + Q86YC2 + + + SwissProt + Q86YC2 + + + + + 16p12.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 35762214[PMID] + + BRCA2 DNA repair associated + BRCA2 + + BRCA1/BRCA2-containing complex, subunit 2 + BRCC2 + FAD + FAD1 + XRCC11 + + + gene with protein product + + + + SwissProt + P51587 + + + Ensembl + ENSG00000139618 + + + Genatlas + BRCA2 + + + HGNC + 1101 + + + OMIM + 600185 + + + Reactome + P51587 + + + ClinVar + BRCA2 + + + + + 13q13.1 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 19801981[PMID]_23064415[PMID] + + T-box transcription factor T + TBXT + + + + gene with protein product + + + + IUPHAR + 3304 + + + Ensembl + ENSG00000164458 + + + Genatlas + T + + + HGNC + 11515 + + + OMIM + 601397 + + + SwissProt + O15178 + + + ClinVar + T + + + + + 6q27 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 308473 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308473 + Erythrocyte galactose epimerase deficiency + + Clinical subtype + + + Subtype of disorder + + + + + + UDP-galactose-4-epimerase + GALE + + SDR1E1 + UDP-glucose 4-epimerase + short chain dehydrogenase/reductase family 1E, member 1 + + + gene with protein product + + + + ClinVar + GALE + + + Ensembl + ENSG00000117308 + + + Genatlas + GALE + + + HGNC + 4116 + + + OMIM + 606953 + + + Reactome + Q14376 + + + SwissProt + Q14376 + + + + + 1p36.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 2637 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2637 + Microcephalic osteodysplastic primordial dwarfism type II + + Malformation syndrome + + + Disorder + + + + 18174396[PMID] + + pericentrin + PCNT + + KEN + KIAA0402 + PCN + PCNTB + SCKL4 + Seckel syndrome 4 + kendrin + + + gene with protein product + + + + ClinVar + PCNT + + + Ensembl + ENSG00000160299 + + + Genatlas + PCNT + + + HGNC + 16068 + + + OMIM + 605925 + + + Reactome + O95613 + + + SwissProt + O95613 + + + + + 21q22.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 308442 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308442 + Vitamin B12-responsive methylmalonic acidemia, type cblDv2 + + Clinical subtype + + + Subtype of disorder + + + + + + metabolism of cobalamin associated D + MMADHC + + CL25022 + cblD + + + gene with protein product + + + + Ensembl + ENSG00000168288 + + + Genatlas + MMADHC + + + HGNC + 25221 + + + OMIM + 611935 + + + Reactome + Q9H3L0 + + + SwissProt + Q9H3L0 + + + ClinVar + MMADHC + + + + + 2q23.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 308655 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308655 + Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form + + Clinical subtype + + + Subtype of disorder + + + + + + 1,4-alpha-glucan branching enzyme 1 + GBE1 + + Andersen disease + glycogen branching enzyme + glycogen storage disease type IV + + + gene with protein product + + + + ClinVar + GBE1 + + + OMIM + 607839 + + + Reactome + Q04446 + + + SwissProt + Q04446 + + + Ensembl + ENSG00000114480 + + + Genatlas + GBE1 + + + HGNC + 4180 + + + + + 3p12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 308638 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308638 + Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form + + Clinical subtype + + + Subtype of disorder + + + + + + 1,4-alpha-glucan branching enzyme 1 + GBE1 + + Andersen disease + glycogen branching enzyme + glycogen storage disease type IV + + + gene with protein product + + + + ClinVar + GBE1 + + + OMIM + 607839 + + + Reactome + Q04446 + + + SwissProt + Q04446 + + + Ensembl + ENSG00000114480 + + + Genatlas + GBE1 + + + HGNC + 4180 + + + + + 3p12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 308621 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308621 + Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form + + Clinical subtype + + + Subtype of disorder + + + + + + 1,4-alpha-glucan branching enzyme 1 + GBE1 + + Andersen disease + glycogen branching enzyme + glycogen storage disease type IV + + + gene with protein product + + + + ClinVar + GBE1 + + + OMIM + 607839 + + + Reactome + Q04446 + + + SwissProt + Q04446 + + + Ensembl + ENSG00000114480 + + + Genatlas + GBE1 + + + HGNC + 4180 + + + + + 3p12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 308552 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308552 + Glycogen storage disease due to acid maltase deficiency, infantile onset + + Clinical subtype + + + Subtype of disorder + + + + + + alpha glucosidase + GAA + + Pompe disease + glycogen storage disease type II + lysosomal alpha-glucosidase + + + gene with protein product + + + + ClinVar + GAA + + + Ensembl + ENSG00000171298 + + + Genatlas + GAA + + + HGNC + 4065 + + + IUPHAR + 2611 + + + OMIM + 606800 + + + Reactome + P10253 + + + SwissProt + P10253 + + + + + 17q25.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 309271 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309271 + Metachromatic leukodystrophy, adult form + + Clinical subtype + + + Subtype of disorder + + + + 24478108[PMID] + + prosaposin + PSAP + + variant Gaucher disease and variant metachromatic leukodystrophy + precursor of saposins + saposin-A + saposin-B + saposin-D + saposin-C + + + gene with protein product + + + + SwissProt + P07602 + + + Ensembl + ENSG00000197746 + + + Genatlas + PSAP + + + HGNC + 9498 + + + OMIM + 176801 + + + Reactome + P07602 + + + ClinVar + PSAP + + + + + 10q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301309[PMID] + + arylsulfatase A + ARSA + + metachromatic leucodystrophy + ASA + + + gene with protein product + + + + ClinVar + ARSA + + + Ensembl + ENSG00000100299 + + + Genatlas + ARSA + + + HGNC + 713 + + + OMIM + 607574 + + + Reactome + P15289 + + + SwissProt + P15289 + + + + + 22q13.33 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 309282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309282 + Alpha-mannosidosis, infantile form + + Clinical subtype + + + Subtype of disorder + + + + 19958498[PMID] + + mannosidase alpha class 2B member 1 + MAN2B1 + + LAMAN + lysosomal alpha-mannosidase + + + gene with protein product + + + + Reactome + O00754 + + + Ensembl + ENSG00000104774 + + + Genatlas + MAN2B1 + + + HGNC + 6826 + + + OMIM + 609458 + + + SwissProt + O00754 + + + ClinVar + MAN2B1 + + + + + 19p13.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 309288 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309288 + Alpha-mannosidosis, adult form + + Clinical subtype + + + Subtype of disorder + + + + 19958498[PMID] + + mannosidase alpha class 2B member 1 + MAN2B1 + + LAMAN + lysosomal alpha-mannosidase + + + gene with protein product + + + + Reactome + O00754 + + + Ensembl + ENSG00000104774 + + + Genatlas + MAN2B1 + + + HGNC + 6826 + + + OMIM + 609458 + + + SwissProt + O00754 + + + ClinVar + MAN2B1 + + + + + 19p13.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 309246 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309246 + GM2 gangliosidosis, AB variant + + Disease + + + Disorder + + + + 8900233[PMID] + + ganglioside GM2 activator + GM2A + + SAP-3 + cerebroside sulfate activator protein + sphingolipid activator protein 3 + GM2-AP + GM2-activator protein + GM2AP + + + gene with protein product + + + + ClinVar + GM2A + + + Ensembl + ENSG00000196743 + + + Genatlas + GM2A + + + HGNC + 4367 + + + OMIM + 613109 + + + Reactome + P17900 + + + SwissProt + P17900 + + + + + 5q33.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 309252 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309252 + Atypical Gaucher disease due to saposin C deficiency + + Clinical subtype + + + Subtype of disorder + + + + + + prosaposin + PSAP + + variant Gaucher disease and variant metachromatic leukodystrophy + precursor of saposins + saposin-A + saposin-B + saposin-D + saposin-C + + + gene with protein product + + + + SwissProt + P07602 + + + Ensembl + ENSG00000197746 + + + Genatlas + PSAP + + + HGNC + 9498 + + + OMIM + 176801 + + + Reactome + P07602 + + + ClinVar + PSAP + + + + + 10q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 309256 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309256 + Metachromatic leukodystrophy, late infantile form + + Clinical subtype + + + Subtype of disorder + + + + 24478108[PMID] + + prosaposin + PSAP + + variant Gaucher disease and variant metachromatic leukodystrophy + precursor of saposins + saposin-A + saposin-B + saposin-D + saposin-C + + + gene with protein product + + + + SwissProt + P07602 + + + Ensembl + ENSG00000197746 + + + Genatlas + PSAP + + + HGNC + 9498 + + + OMIM + 176801 + + + Reactome + P07602 + + + ClinVar + PSAP + + + + + 10q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301309[PMID] + + arylsulfatase A + ARSA + + metachromatic leucodystrophy + ASA + + + gene with protein product + + + + ClinVar + ARSA + + + Ensembl + ENSG00000100299 + + + Genatlas + ARSA + + + HGNC + 713 + + + OMIM + 607574 + + + Reactome + P15289 + + + SwissProt + P15289 + + + + + 22q13.33 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 309263 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309263 + Metachromatic leukodystrophy, juvenile form + + Clinical subtype + + + Subtype of disorder + + + + 24478108[PMID] + + prosaposin + PSAP + + variant Gaucher disease and variant metachromatic leukodystrophy + precursor of saposins + saposin-A + saposin-B + saposin-D + saposin-C + + + gene with protein product + + + + SwissProt + P07602 + + + Ensembl + ENSG00000197746 + + + Genatlas + PSAP + + + HGNC + 9498 + + + OMIM + 176801 + + + Reactome + P07602 + + + ClinVar + PSAP + + + + + 10q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301309[PMID] + + arylsulfatase A + ARSA + + metachromatic leucodystrophy + ASA + + + gene with protein product + + + + ClinVar + ARSA + + + Ensembl + ENSG00000100299 + + + Genatlas + ARSA + + + HGNC + 713 + + + OMIM + 607574 + + + Reactome + P15289 + + + SwissProt + P15289 + + + + + 22q13.33 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 309324 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309324 + Free sialic acid storage disease, infantile form + + Clinical subtype + + + Subtype of disorder + + + + 20301643[PMID] + + solute carrier family 17 member 5 + SLC17A5 + + AST + ISSD + NSD + SD + SIALIN + SLD + Salla disease + acidic sugar transporter + infantile sialic acid storage disorder + + + gene with protein product + + + + ClinVar + SLC17A5 + + + Ensembl + ENSG00000119899 + + + Genatlas + SLC17A5 + + + HGNC + 10933 + + + OMIM + 604322 + + + Reactome + Q9NRA2 + + + SwissProt + Q9NRA2 + + + IUPHAR + 1006 + + + + + 6q13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 309331 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309331 + Intermediate severe Salla disease + + Clinical subtype + + + Subtype of disorder + + + + 20301643[PMID] + + solute carrier family 17 member 5 + SLC17A5 + + AST + ISSD + NSD + SD + SIALIN + SLD + Salla disease + acidic sugar transporter + infantile sialic acid storage disorder + + + gene with protein product + + + + ClinVar + SLC17A5 + + + Ensembl + ENSG00000119899 + + + Genatlas + SLC17A5 + + + HGNC + 10933 + + + OMIM + 604322 + + + Reactome + Q9NRA2 + + + SwissProt + Q9NRA2 + + + IUPHAR + 1006 + + + + + 6q13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 309334 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309334 + Salla disease + + Clinical subtype + + + Subtype of disorder + + + + 20301643[PMID] + + solute carrier family 17 member 5 + SLC17A5 + + AST + ISSD + NSD + SD + SIALIN + SLD + Salla disease + acidic sugar transporter + infantile sialic acid storage disorder + + + gene with protein product + + + + ClinVar + SLC17A5 + + + Ensembl + ENSG00000119899 + + + Genatlas + SLC17A5 + + + HGNC + 10933 + + + OMIM + 604322 + + + Reactome + Q9NRA2 + + + SwissProt + Q9NRA2 + + + IUPHAR + 1006 + + + + + 6q13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 309297 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297 + Mucopolysaccharidosis type 4A + + Clinical subtype + + + Subtype of disorder + + + + 23844448[PMID] + + galactosamine (N-acetyl)-6-sulfatase + GALNS + + GALNAC6S + GAS + Morquio syndrome + mucopolysaccharidosis type IVA + N-acetylgalactosamine-6-sulfatase + galactose-6-sulfate sulfatase + chondroitinase + GalN6S + chondroitinsulfatase + + + gene with protein product + + + + ClinVar + GALNS + + + IUPHAR + 2765 + + + Ensembl + ENSG00000141012 + + + Genatlas + GALNS + + + HGNC + 4122 + + + OMIM + 612222 + + + Reactome + P34059 + + + SwissProt + P34059 + + + + + 16q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 309310 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309310 + Mucopolysaccharidosis type 4B + + Clinical subtype + + + Subtype of disorder + + + + 24156116[PMID] + + galactosidase beta 1 + GLB1 + + EBP + elastin binding protein + + + gene with protein product + + + + Ensembl + ENSG00000170266 + + + Genatlas + GLB1 + + + HGNC + 4298 + + + OMIM + 611458 + + + Reactome + P16278 + + + SwissProt + P16278 + + + ClinVar + GLB1 + + + + + 3p22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 309185 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309185 + Tay-Sachs disease, juvenile form + + Clinical subtype + + + Subtype of disorder + + + + + + hexosaminidase subunit alpha + HEXA + + GM2 gangliosidosis + Tay Sachs disease + beta-hexosaminidase subunit alpha + + + gene with protein product + + + + ClinVar + HEXA + + + HGNC + 4878 + + + OMIM + 606869 + + + Reactome + P06865 + + + SwissProt + P06865 + + + Ensembl + ENSG00000213614 + + + Genatlas + HEXA + + + + + 15q23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 309178 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309178 + Tay-Sachs disease, infantile form + + Clinical subtype + + + Subtype of disorder + + + + + + hexosaminidase subunit alpha + HEXA + + GM2 gangliosidosis + Tay Sachs disease + beta-hexosaminidase subunit alpha + + + gene with protein product + + + + ClinVar + HEXA + + + HGNC + 4878 + + + OMIM + 606869 + + + Reactome + P06865 + + + SwissProt + P06865 + + + Ensembl + ENSG00000213614 + + + Genatlas + HEXA + + + + + 15q23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 309192 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309192 + Tay-Sachs disease, adult form + + Clinical subtype + + + Subtype of disorder + + + + + + hexosaminidase subunit alpha + HEXA + + GM2 gangliosidosis + Tay Sachs disease + beta-hexosaminidase subunit alpha + + + gene with protein product + + + + ClinVar + HEXA + + + HGNC + 4878 + + + OMIM + 606869 + + + Reactome + P06865 + + + SwissProt + P06865 + + + Ensembl + ENSG00000213614 + + + Genatlas + HEXA + + + + + 15q23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 309155 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309155 + Sandhoff disease, infantile form + + Clinical subtype + + + Subtype of disorder + + + + 20798201[PMID] + + hexosaminidase subunit beta + HEXB + + beta-hexosaminidase subunit beta + + + gene with protein product + + + + ClinVar + HEXB + + + Ensembl + ENSG00000049860 + + + Genatlas + HEXB + + + HGNC + 4879 + + + OMIM + 606873 + + + Reactome + P07686 + + + SwissProt + P07686 + + + + + 5q13.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 309169 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309169 + Sandhoff disease, adult form + + Clinical subtype + + + Subtype of disorder + + + + 20798201[PMID] + + hexosaminidase subunit beta + HEXB + + beta-hexosaminidase subunit beta + + + gene with protein product + + + + ClinVar + HEXB + + + Ensembl + ENSG00000049860 + + + Genatlas + HEXB + + + HGNC + 4879 + + + OMIM + 606873 + + + Reactome + P07686 + + + SwissProt + P07686 + + + + + 5q13.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 309162 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309162 + Sandhoff disease, juvenile form + + Clinical subtype + + + Subtype of disorder + + + + 20798201[PMID] + + hexosaminidase subunit beta + HEXB + + beta-hexosaminidase subunit beta + + + gene with protein product + + + + ClinVar + HEXB + + + Ensembl + ENSG00000049860 + + + Genatlas + HEXB + + + HGNC + 4879 + + + OMIM + 606873 + + + Reactome + P07686 + + + SwissProt + P07686 + + + + + 5q13.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 300547 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300547 + Autosomal recessive infantile hypercalcemia + + Disease + + + Disorder + + + + 21675912[PMID] + + cytochrome P450 family 24 subfamily A member 1 + CYP24A1 + + CP24 + P450-CC24 + lncBCAS1-4_1 + + + gene with protein product + + + + IUPHAR + 1365 + + + ClinVar + CYP24A1 + + + Ensembl + ENSG00000019186 + + + Genatlas + CYP24A1 + + + HGNC + 2602 + + + OMIM + 126065 + + + Reactome + Q07973 + + + SwissProt + Q07973 + + + + + 20q13.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 26047794[PMID] + + solute carrier family 34 member 1 + SLC34A1 + + NAPI-3 + NPTIIa + Na+-phosphate cotransporter type II + SLC11 + sodium/phosphate co-transporter + solute carrier family 17 (sodium phosphate), member 2 + + + gene with protein product + + + + IUPHAR + 1135 + + + Ensembl + ENSG00000131183 + + + Genatlas + SLC34A1 + + + HGNC + 11019 + + + OMIM + 182309 + + + Reactome + Q06495 + + + SwissProt + Q06495 + + + ClinVar + SLC34A1 + + + + + 5q35.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 300570 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300570 + Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation + + Disease + + + Disorder + + + + 20829227[PMID] + + tubulin beta 3 class III + TUBB3 + + CFEOM3 + CFEOM3A + beta-4 + class III beta-tubulin + + + gene with protein product + + + + Ensembl + ENSG00000258947 + + + Genatlas + TUBB3 + + + HGNC + 20772 + + + IUPHAR + 2752 + + + OMIM + 602661 + + + Reactome + Q13509 + + + SwissProt + Q13509 + + + ClinVar + TUBB3 + + + + + 16q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 300573 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300573 + Polymicrogyria due to TUBB2B mutation + + Malformation syndrome + + + Disorder + + + + 19465910[PMID] + + tubulin beta 2B class IIb + TUBB2B + + DKFZp566F223 + MGC8685 + bA506K6.1 + class IIb beta-tubulin + + + gene with protein product + + + + Ensembl + ENSG00000137285 + + + Genatlas + TUBB2B + + + HGNC + 30829 + + + OMIM + 612850 + + + Reactome + Q9BVA1 + + + SwissProt + Q9BVA1 + + + ClinVar + TUBB2B + + + + + 6p25.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 300496 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300496 + Multiple congenital anomalies-hypotonia-seizures syndrome type 2 + + Malformation syndrome + + + Disorder + + + + + + phosphatidylinositol glycan anchor biosynthesis class A + PIGA + + GPI3 (SPT14) homolog (S. cerevisiae) + PIG-A + Phosphatidylinositol N-acetylglucosaminyltransferase subunit A + GPI3 + paroxysmal nocturnal hemoglobinuria + + + gene with protein product + + + + Ensembl + ENSG00000165195 + + + Genatlas + PIGA + + + HGNC + 8957 + + + OMIM + 311770 + + + Reactome + P37287 + + + SwissProt + P37287 + + + ClinVar + PIGA + + + + + Xp22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 300525 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300525 + Pseudohypoaldosteronism type 2D + + Etiological subtype + + + Subtype of disorder + + + + 22073419[PMID] + + kelch like family member 3 + KLHL3 + + KIAA1129 + + + gene with protein product + + + + Reactome + Q9UH77 + + + Ensembl + ENSG00000146021 + + + Genatlas + KLHL3 + + + HGNC + 6354 + + + OMIM + 605775 + + + SwissProt + Q9UH77 + + + ClinVar + KLHL3 + + + + + 5q31.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 300530 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300530 + Pseudohypoaldosteronism type 2E + + Etiological subtype + + + Subtype of disorder + + + + 22073419[PMID] + + cullin 3 + CUL3 + + + + gene with protein product + + + + Genatlas + CUL3 + + + HGNC + 2553 + + + OMIM + 603136 + + + Reactome + Q13618 + + + SwissProt + Q13618 + + + ClinVar + CUL3 + + + Ensembl + ENSG00000036257 + + + + + 2q36.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 300536 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300536 + DDOST-CDG + + Disease + + + Disorder + + + + 22305527[PMID] + + dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit + DDOST + + GATD6 + KIAA0115 + OST + OST48 + WBP1 + advanced glycation end-product receptor 1 + oligosaccharyltransferase subunit 48 + + + gene with protein product + + + + Ensembl + ENSG00000244038 + + + Genatlas + DDOST + + + HGNC + 2728 + + + OMIM + 602202 + + + Reactome + P39656 + + + SwissProt + P39656 + + + ClinVar + DDOST + + + + + 1p36.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 300865 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300865 + Primary cutaneous anaplastic large cell lymphoma + + Disease + + + Disorder + + + + 25349176[PMID] + + tyrosine kinase 2 + TYK2 + + JTK1 + + + gene with protein product + + + + ClinVar + TYK2 + + + Ensembl + ENSG00000105397 + + + Genatlas + TYK2 + + + HGNC + 12440 + + + IUPHAR + 2269 + + + OMIM + 176941 + + + Reactome + P29597 + + + SwissProt + P29597 + + + + + 19p13.2 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 25349176[PMID] + + nucleophosmin 1 + NPM1 + + B23 + NPM + Nucleophosmin/nucleoplasmin family, member 1 + Numatrin + nucleolar phosphoprotein B23 + numatrin + nucleophosmin/nucleoplasmin family, member 1 + + + gene with protein product + + + + Ensembl + ENSG00000181163 + + + Genatlas + NPM1 + + + HGNC + 7910 + + + OMIM + 164040 + + + Reactome + P06748 + + + SwissProt + P06748 + + + ClinVar + NPM1 + + + + + 5q35.1 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 300878 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300878 + Hairy cell leukemia variant + + Disease + + + Disorder + + + + 21599610[PMID]_19745070[PMID] + + immunoglobulin heavy variable 4-34 + IGHV4-34 + + + + gene with protein product + + + + SwissProt + P06331 + + + Reactome + P06331 + + + ClinVar + IGHV4-34 + + + Ensembl + ENSG00000211956 + + + Genatlas + IGHV4-34 + + + HGNC + 5650 + + + + + 14q32.33 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 300895 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300895 + ALK-positive anaplastic large cell lymphoma + + Histopathological subtype + + + Subtype of disorder + + + + 12112524[PMID] + + ALK receptor tyrosine kinase + ALK + + ALK1 + CD246 + + + gene with protein product + + + + Reactome + Q9UM73 + + + ClinVar + ALK + + + Ensembl + ENSG00000171094 + + + Genatlas + ALK + + + HGNC + 427 + + + IUPHAR + 1839 + + + OMIM + 105590 + + + SwissProt + Q9UM73 + + + + + 2p23.2-p23.1 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 300605 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300605 + Juvenile amyotrophic lateral sclerosis + + Disease + + + Disorder + + + + 23282280[PMID] + + alsin Rho guanine nucleotide exchange factor ALS2 + ALS2 + + alsin + + + gene with protein product + + + + Ensembl + ENSG00000003393 + + + Genatlas + ALS2 + + + HGNC + 443 + + + OMIM + 606352 + + + SwissProt + Q96Q42 + + + Reactome + Q96Q42 + + + ClinVar + ALS2 + + + + + 2q33.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24085347[PMID]_22154821[PMID]_20110243[PMID] + + SPG11 vesicle trafficking associated, spatacsin + SPG11 + + FLJ21439 + spatacsin + + + gene with protein product + + + + ClinVar + SPG11 + + + Ensembl + ENSG00000104133 + + + Genatlas + SPG11 + + + HGNC + 11226 + + + OMIM + 610844 + + + SwissProt + Q96JI7 + + + + + 15q21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21842496[PMID]_24085347[PMID] + + sigma non-opioid intracellular receptor 1 + SIGMAR1 + + SR-BP1 + + + gene with protein product + + + + Ensembl + ENSG00000147955 + + + Genatlas + SIGMAR1 + + + HGNC + 8157 + + + IUPHAR + 2552 + + + OMIM + 601978 + + + SwissProt + Q99720 + + + ClinVar + SIGMAR1 + + + + + 9p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20579074[PMID]_23046859[PMID]_22248478[PMID] + + FUS RNA binding protein + FUS + + FUS1 + HNRNPP2 + TLS + heterogeneous nuclear ribonucleoprotein P2 + hnRNP-P2 + translocated in liposarcoma + + + gene with protein product + + + + ClinVar + FUS + + + Ensembl + ENSG00000089280 + + + Genatlas + FUS + + + HGNC + 4010 + + + OMIM + 137070 + + + Reactome + P35637 + + + SwissProt + P35637 + + + + + 16p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 34459874[PMID] + + serine palmitoyltransferase long chain base subunit 1 + SPTLC1 + + HSAN1 + LCB1 + SPTI + hLCB1 + + + gene with protein product + + + + IUPHAR + 2509 + + + ClinVar + SPTLC1 + + + Ensembl + ENSG00000090054 + + + Genatlas + SPTLC1 + + + HGNC + 11277 + + + OMIM + 605712 + + + Reactome + O15269 + + + SwissProt + O15269 + + + + + 9q22.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 300751 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300751 + Familial dilated cardiomyopathy with conduction defect due to LMNA mutation + + Disease + + + Disorder + + + + 20301717[PMID] + + lamin A/C + LMNA + + HGPS + MADA + mandibuloacral dysplasia type A + progerin + + + gene with protein product + + + + ClinVar + LMNA + + + Ensembl + ENSG00000160789 + + + Genatlas + LMNA + + + HGNC + 6636 + + + OMIM + 150330 + + + Reactome + P02545 + + + SwissProt + P02545 + + + + + 1q22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 306550 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306550 + FADD-related immunodeficiency + + Disease + + + Disorder + + + + 21109225[PMID] + + Fas associated via death domain + FADD + + Fas-associating death domain-containing protein + Fas-associating protein with death domain + GIG3 + Growth-inhibiting gene 3 protein + MORT1 + Mediator of receptor-induced toxicity + growth-inhibiting gene 3 protein + mediator of receptor-induced toxicity + + + gene with protein product + + + + Ensembl + ENSG00000168040 + + + Genatlas + FADD + + + HGNC + 3573 + + + OMIM + 602457 + + + Reactome + Q13158 + + + SwissProt + Q13158 + + + ClinVar + FADD + + + + + 11q13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 306542 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306542 + Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome + + Malformation syndrome + + + Disorder + + + + 20451171[PMID] + + ALX homeobox 1 + ALX1 + + + + gene with protein product + + + + Reactome + Q15699 + + + OMIM + 601527 + + + SwissProt + Q15699 + + + Ensembl + ENSG00000180318 + + + Genatlas + ALX1 + + + HGNC + 1494 + + + ClinVar + ALX1 + + + + + 12q21.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 306547 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306547 + Porencephaly-microcephaly-bilateral congenital cataract syndrome + + Malformation syndrome + + + Disorder + + + + 21109224[PMID] + + junctional adhesion molecule 3 + JAM3 + + JAM-3 + junctional adhesion molecule C + JAM-C + JAMC + + + gene with protein product + + + + Ensembl + ENSG00000166086 + + + Genatlas + JAM3 + + + HGNC + 15532 + + + OMIM + 606871 + + + Reactome + Q9BX67 + + + SwissProt + Q9BX67 + + + ClinVar + JAM3 + + + + + 11q25 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 306530 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306530 + Congenital hereditary facial paralysis-variable hearing loss syndrome + + Morphological anomaly + + + Disorder + + + + 22770981[PMID] + + homeobox B1 + HOXB1 + + + + gene with protein product + + + + Ensembl + ENSG00000120094 + + + Genatlas + HOXB1 + + + HGNC + 5111 + + + OMIM + 142968 + + + Reactome + P14653 + + + SwissProt + P14653 + + + ClinVar + HOXB1 + + + + + 17q21.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 306511 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306511 + Autosomal recessive spastic paraplegia type 48 + + Disease + + + Disorder + + + + 20613862[PMID] + + adaptor related protein complex 5 subunit zeta 1 + AP5Z1 + + SPG48 + zeta + + + gene with protein product + + + + ClinVar + AP5Z1 + + + Ensembl + ENSG00000242802 + + + Genatlas + AP5Z1 + + + HGNC + 22197 + + + OMIM + 613653 + + + SwissProt + O43299 + + + + + 7p22.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 306504 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306504 + Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome + + Disease + + + Disorder + + + + 22512183[PMID] + + integrin subunit alpha 3 + ITGA3 + + CD49c + GAP-B3 + VCA-2 + VLA3a + alpha 3 subunit of VLA-3 receptor + antigen CD49C + galactoprotein b3 + very late activation receptor subunit alpha-3 + + + gene with protein product + + + + ClinVar + ITGA3 + + + SwissProt + P26006 + + + Ensembl + ENSG00000005884 + + + Genatlas + ITGA3 + + + HGNC + 6139 + + + OMIM + 605025 + + + Reactome + P26006 + + + IUPHAR + 2442 + + + + + 17q21.33 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 306661 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306661 + Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome + + Clinical subtype + + + Subtype of disorder + + + + 15590700[PMID]_22142751[PMID]_19188744[PMID] + + fibroblast growth factor 23 + FGF23 + + + + gene with protein product + + + + SwissProt + Q9GZV9 + + + Ensembl + ENSG00000118972 + + + Genatlas + FGF23 + + + HGNC + 3680 + + + OMIM + 605380 + + + Reactome + Q9GZV9 + + + ClinVar + FGF23 + + + + + 12p13.32 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 15133511[PMID]_21347749[PMID] + + polypeptide N-acetylgalactosaminyltransferase 3 + GALNT3 + + GalNAc-T3 + HFTC + HHS + polypeptide GalNAc transferase 3 + + + gene with protein product + + + + ClinVar + GALNT3 + + + Genatlas + GALNT3 + + + HGNC + 4125 + + + OMIM + 601756 + + + Reactome + Q14435 + + + SwissProt + Q14435 + + + Ensembl + ENSG00000115339 + + + + + 2q24.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 17710231[PMID]_22142751[PMID] + + klotho + KL + + alpha-klotho + KLA + + + gene with protein product + + + + ClinVar + KL + + + IUPHAR + 3146 + + + Ensembl + ENSG00000133116 + + + Genatlas + KL + + + HGNC + 6344 + + + OMIM + 604824 + + + Reactome + Q9UEF7 + + + SwissProt + Q9UEF7 + + + + + 13q13.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 306658 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306658 + Familial normophosphatemic tumoral calcinosis + + Clinical subtype + + + Subtype of disorder + + + + 16960814[PMID]_18094730[PMID] + + sterile alpha motif domain containing 9 + SAMD9 + + FLJ20073 + KIAA2004 + + + gene with protein product + + + + ClinVar + SAMD9 + + + Ensembl + ENSG00000205413 + + + Genatlas + SAMD9 + + + HGNC + 1348 + + + OMIM + 610456 + + + SwissProt + Q5K651 + + + + + 7q21.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 306617 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306617 + X-linked complicated spastic paraplegia type 1 + + Clinical subtype + + + Subtype of disorder + + + + 20301657[PMID] + + L1 cell adhesion molecule + L1CAM + + neural cell adhesion molecule L1 + CD171 + CAML1 + NCAM-L1 + + + gene with protein product + + + + ClinVar + L1CAM + + + Ensembl + ENSG00000198910 + + + Genatlas + L1CAM + + + HGNC + 6470 + + + OMIM + 308840 + + + Reactome + P32004 + + + SwissProt + P32004 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 306577 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306577 + Hereditary sodium channelopathy-related small fibers neuropathy + + Disease + + + Disorder + + + + 21698661[PMID] + + sodium voltage-gated channel alpha subunit 9 + SCN9A + + ETHA + NE-NA + NENA + Nav1.7 + PN1 + + + gene with protein product + + + + ClinVar + SCN9A + + + Ensembl + ENSG00000169432 + + + Genatlas + SCN9A + + + HGNC + 10597 + + + IUPHAR + 584 + + + OMIM + 603415 + + + Reactome + Q15858 + + + SwissProt + Q15858 + + + + + 2q24.3 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 23115331[PMID] + + sodium voltage-gated channel alpha subunit 10 + SCN10A + + Nav1.8 + PN3 + SNS + hPN3 + peripheral nerve sodium channel 3 + sensory neuron sodium channel + + + gene with protein product + + + + Ensembl + ENSG00000185313 + + + Genatlas + SCN10A + + + HGNC + 10582 + + + IUPHAR + 585 + + + OMIM + 604427 + + + Reactome + Q9Y5Y9 + + + SwissProt + Q9Y5Y9 + + + ClinVar + SCN10A + + + + + 3p22.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 24776970[PMID] + + sodium voltage-gated channel alpha subunit 11 + SCN11A + + NaN + Nav1.9 + SNS-2 + + + gene with protein product + + + + Ensembl + ENSG00000168356 + + + Genatlas + SCN11A + + + HGNC + 10583 + + + IUPHAR + 586 + + + OMIM + 604385 + + + Reactome + Q9UI33 + + + SwissProt + Q9UI33 + + + ClinVar + SCN11A + + + + + 3p22.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 306558 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306558 + Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome + + Disease + + + Disorder + + + + 21835305[PMID] + + immediate early response 3 interacting protein 1 + IER3IP1 + + + + gene with protein product + + + + Ensembl + ENSG00000134049 + + + Genatlas + IER3IP1 + + + HGNC + 18550 + + + OMIM + 609382 + + + SwissProt + Q9Y5U9 + + + Reactome + Q9Y5U9 + + + ClinVar + IER3IP1 + + + + + 18q21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 33164987[PMID] + + Yip1 domain family member 5 + YIPF5 + + YIPFalpha1A + Yip1a + SMAP-5 + FinGER5 + + + gene with protein product + + + + SwissProt + Q969M3 + + + OMIM + 611483 + + + Ensembl + ENSG00000145817 + + + HGNC + 24877 + + + + + 5q31.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 295195 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295195 + Synpolydactyly type 1 + + Clinical subtype + + + Subtype of disorder + + + + 22448207[PMID] + + homeobox D13 + HOXD13 + + synpolydactyly + + + gene with protein product + + + + Reactome + P35453 + + + ClinVar + HOXD13 + + + Ensembl + ENSG00000128714 + + + Genatlas + HOXD13 + + + HGNC + 5136 + + + OMIM + 142989 + + + SwissProt + P35453 + + + + + 2q31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 295191 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295191 + Zygodactyly type 3 + + Clinical subtype + + + Subtype of disorder + + + + 24789103[PMID] + + homeobox D13 + HOXD13 + + synpolydactyly + + + gene with protein product + + + + Reactome + P35453 + + + ClinVar + HOXD13 + + + Ensembl + ENSG00000128714 + + + Genatlas + HOXD13 + + + HGNC + 5136 + + + OMIM + 142989 + + + SwissProt + P35453 + + + + + 2q31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 295201 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295201 + Congenital vertical talus, unilateral + + Clinical subtype + + + Subtype of disorder + + + + + + homeobox D10 + HOXD10 + + + + gene with protein product + + + + OMIM + 142984 + + + SwissProt + P28358 + + + Ensembl + ENSG00000128710 + + + Genatlas + HOXD10 + + + HGNC + 5133 + + + ClinVar + HOXD10 + + + + + 2q31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 295203 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295203 + Congenital vertical talus, bilateral + + Clinical subtype + + + Subtype of disorder + + + + 15146389[PMID]_16450407[PMID] + + homeobox D10 + HOXD10 + + + + gene with protein product + + + + OMIM + 142984 + + + SwissProt + P28358 + + + Ensembl + ENSG00000128710 + + + Genatlas + HOXD10 + + + HGNC + 5133 + + + ClinVar + HOXD10 + + + + + 2q31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 295197 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295197 + Synpolydactyly type 2 + + Clinical subtype + + + Subtype of disorder + + + + 22448207[PMID]_11836357[PMID] + + fibulin 1 + FBLN1 + + FBLN + + + gene with protein product + + + + Genatlas + FBLN1 + + + HGNC + 3600 + + + OMIM + 135820 + + + Reactome + P23142 + + + SwissProt + P23142 + + + Ensembl + ENSG00000077942 + + + ClinVar + FBLN1 + + + + + 22q13.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 295239 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295239 + Macrodactyly of fingers, unilateral + + Clinical subtype + + + Subtype of disorder + + + + 23100325[PMID] + + phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha + PIK3CA + + PI3K + + + gene with protein product + + + + Reactome + P42336 + + + SwissProt + P42336 + + + Ensembl + ENSG00000121879 + + + Genatlas + PIK3CA + + + HGNC + 8975 + + + IUPHAR + 2153 + + + OMIM + 171834 + + + ClinVar + PIK3CA + + + + + 3q26.32 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 295243 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295243 + Macrodactyly of toes, unilateral + + Clinical subtype + + + Subtype of disorder + + + + 24782230[PMID] + + phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha + PIK3CA + + PI3K + + + gene with protein product + + + + Reactome + P42336 + + + SwissProt + P42336 + + + Ensembl + ENSG00000121879 + + + Genatlas + PIK3CA + + + HGNC + 8975 + + + IUPHAR + 2153 + + + OMIM + 171834 + + + ClinVar + PIK3CA + + + + + 3q26.32 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 300179 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300179 + Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency + + Clinical subtype + + + Subtype of disorder + + + + 22265013[PMID] + + FKBP prolyl isomerase 14 + FKBP14 + + FKBP22 + FLJ20731 + + + gene with protein product + + + + ClinVar + FKBP14 + + + Ensembl + ENSG00000106080 + + + Genatlas + FKBP14 + + + HGNC + 18625 + + + OMIM + 614505 + + + Reactome + Q9NWM8 + + + SwissProt + Q9NWM8 + + + + + 7p14.3 + 1 + + + + + Disease-causing germline mutation(s) in + 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protein 1 + + + gene with protein product + + + + ClinVar + CARD11 + + + Ensembl + ENSG00000198286 + + + Genatlas + CARD11 + + + HGNC + 16393 + + + OMIM + 607210 + + + Reactome + Q9BXL7 + + + SwissProt + Q9BXL7 + + + + + 7p22.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 300313 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300313 + Congenital cataract-hearing loss-severe developmental delay syndrome + + Disease + + + Disorder + + + + 22243965[PMID] + + solute carrier family 33 member 1 + SLC33A1 + + Acetyl-CoA transporter 1 + AT-1 + AT1 + + + gene with protein product + + + + IUPHAR + 1134 + + + Ensembl + ENSG00000169359 + + + Genatlas + SLC33A1 + + + HGNC + 95 + + + OMIM + 603690 + + + Reactome + O00400 + + + SwissProt + O00400 + + + ClinVar + SLC33A1 + + + + + 3q25.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 300298 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300298 + Severe congenital hypochromic anemia with ringed sideroblasts + + Disease + + + Disorder + + + + 22031863[PMID] + + STEAP3 metalloreductase + STEAP3 + + STMP3 + TSAP6 + dudlin-2 + ferrireductase + + + gene with protein product + + + + ClinVar + STEAP3 + + + Ensembl + ENSG00000115107 + + + Genatlas + STEAP3 + + + HGNC + 24592 + + + OMIM + 609671 + + + Reactome + Q658P3 + + + SwissProt + Q658P3 + + + + + 2q14.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 300284 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300284 + Connective tissue disorder due to lysyl hydroxylase-3 deficiency + + Disease + + + Disorder + + + + 18834968[PMID] + + procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 + PLOD3 + + LH3 + Lysyl hydroxlase 3 + Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 + lysyl hydroxlase 3 + + + gene with protein product + + + + Ensembl + ENSG00000106397 + + + Genatlas + PLOD3 + + + HGNC + 9083 + + + OMIM + 603066 + + + Reactome + O60568 + + + SwissProt + O60568 + + + ClinVar + PLOD3 + + + + + 7q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 300293 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300293 + Transient infantile hypertriglyceridemia and hepatosteatosis + + Disease + + + Disorder + + + + 22226083[PMID] + + glycerol-3-phosphate dehydrogenase 1 + GPD1 + + + + gene with protein product + + + + Ensembl + ENSG00000167588 + + + Genatlas + GPD1 + + + HGNC + 4455 + + + OMIM + 138420 + + + Reactome + P21695 + + + SwissProt + P21695 + + + ClinVar + GPD1 + + + + + 12q13.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26427795[PMID] + + cAMP responsive element binding protein 3 like 3 + CREB3L3 + + CREB-H + CREBH + cAMP-responsive element-binding protein, hepatic-specific + + + gene with protein product + + + + Ensembl + ENSG00000060566 + + + Genatlas + CREB3L3 + + + HGNC + 18855 + + + OMIM + 611998 + + + SwissProt 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Genatlas + C1QA + + + HGNC + 1241 + + + OMIM + 120550 + + + Reactome + P02745 + + + SwissProt + P02745 + + + ClinVar + C1QA + + + + + 1p36.12 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 15032584[PMID] + + complement C4A (Chido/Rodgers blood group) + C4A + + C4 + C4A2 + C4A3 + C4A4 + C4A6 + C4B + C4S + CO4 + CPAMD2 + RG + + + gene with protein product + + + + ClinVar + C4A + + + Ensembl + ENSG00000244731 + + + Genatlas + C4A + + + HGNC + 1323 + + + OMIM + 120810 + + + Reactome + P0C0L4 + + + SwissProt + P0C0L4 + + + + + 6p21.33 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 22019780[PMID] + + deoxyribonuclease 1L3 + DNASE1L3 + + DNaseY + LS-DNase + DNAS1L3 + DNase gamma + LSD + D3 + + + gene with protein product + + + + Ensembl + ENSG00000163687 + + + Genatlas + DNASE1L3 + + + HGNC + 2959 + + + OMIM + 602244 + + + SwissProt + Q13609 + + + ClinVar + DNASE1L3 + + + + + 3p14.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 28544690[PMID] + + complement C1r + C1R + + + + gene with protein product + + + + Ensembl + ENSG00000159403 + + + Genatlas + C1R + + + HGNC + 1246 + + + IUPHAR + 2334 + + + OMIM + 613785 + + + Reactome + P00736 + + + SwissProt + P00736 + + + ClinVar + C1R + + + + + 12p13.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 11479590[PMID] + + deoxyribonuclease 1 + DNASE1 + + + + gene with protein product + + + + ClinVar + DNASE1 + + + Ensembl + ENSG00000213918 + + + Genatlas + DNASE1 + + + HGNC + 2956 + + + OMIM + 125505 + + + SwissProt + P24855 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 300359 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300359 + PLCG2-associated antibody deficiency and immune dysregulation + + Disease + + + Disorder + + + + 22236196[PMID]_23000145[PMID] + + phospholipase C gamma 2 + PLCG2 + + + + gene with protein product + + + + IUPHAR + 1408 + + + Ensembl + ENSG00000197943 + + + Genatlas + PLCG2 + + + HGNC + 9066 + + + OMIM + 600220 + + + Reactome + P16885 + + + SwissProt + P16885 + + + ClinVar + PLCG2 + + + + + 16q24.1 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 300333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300333 + Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome + + Disease + + + Disorder + + + + 15265795[PMID] + + CD151 molecule (Raph blood group) + CD151 + + PETA-3 + RAPH + SFA-1 + TSPAN24 + + + gene with protein product + + + + SwissProt + P48509 + + + Ensembl + ENSG00000177697 + + + Genatlas + CD151 + + + HGNC + 1630 + + + OMIM + 602243 + + + Reactome + P48509 + + + ClinVar + CD151 + + + + + 11p15.5 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 464724 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464724 + Fever-associated acute infantile liver failure syndrome + + Disease + + + Disorder + + + + 26073778[PMID] + + NBAS subunit of NRZ tethering complex + NBAS + + NAG + + + gene with protein product + + + + Reactome + A2RRP1 + + + ClinVar + NBAS + + + HGNC + 15625 + + + OMIM + 608025 + + + SwissProt + A2RRP1 + + + Ensembl + ENSG00000151779 + + + Genatlas + NBAS + + + + + 2p24.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 31204009[PMID] + + RAD50 interactor 1 + RINT1 + + FLJ11785 + RINT-1 + + + gene with protein product + + + + HGNC + 21876 + + + SwissProt + Q6NUQ1 + + + Ensembl + ENSG00000135249 + + + Genatlas + RINT1 + + + ClinVar + RINT1 + + + OMIM + 610089 + + + + + 7q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 464738 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464738 + Basel-Vanagaite-Smirin-Yosef syndrome + + Malformation syndrome + + + Disorder + + + + 25792360[PMID] + + mediator complex subunit 25 + MED25 + + ACID1 + ARC92 + DKFZp434K0512 + TCBAP0758 + + + gene with protein product + + + + ClinVar + MED25 + + + Ensembl + ENSG00000104973 + + + Genatlas + MED25 + + + HGNC + 28845 + + + OMIM + 610197 + + + Reactome + Q71SY5 + + + SwissProt + Q71SY5 + + + + + 19q13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 464760 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464760 + Familial cavitary optic disc anomaly + + Morphological anomaly + + + Disorder + + + + 25581579[PMID] + + matrix metallopeptidase 19 + MMP19 + + RASI-1 + + + gene with protein product + + + + HGNC + 7165 + + + OMIM + 601807 + + + Genatlas + MMP19 + + + SwissProt + Q99542 + + + Reactome + Q99542 + + + Ensembl + ENSG00000123342 + + + IUPHAR + 1642 + + + ClinVar + MMP19 + + + + + 12q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 464756 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464756 + Familial gastric type 1 neuroendocrine tumor + + Disease + + + Disorder + + + + 25678551[PMID] + + ATPase H+/K+ transporting subunit alpha + ATP4A + + ATP6A + gastric H,K-ATPase alpha subunit + H(+)-K(+)-ATPase alpha subunit + proton pump + + + gene with protein product + + + + ClinVar + ATP4A + + + HGNC + 819 + + + OMIM + 137216 + + + Genatlas + ATP4A + + + SwissProt + P20648 + + + Reactome + P20648 + + + Ensembl + ENSG00000105675 + + + IUPHAR + 849 + + + + + 19q13.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 465508 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465508 + Symptomatic form of HFE-related hemochromatosis + + Disease + + + Disorder + + + + 20301613[PMID] + + homeostatic iron regulator + HFE + + HLA-H + high Fe + HFE1 + + + gene with protein product + + + + OMIM + 613609 + + + SwissProt + Q30201 + + + Ensembl + ENSG00000010704 + + + Genatlas + HFE + + + HGNC + 4886 + + + Reactome + Q30201 + + + ClinVar + HFE + + + + + 6p22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 28335084[PMID] + + bone morphogenetic protein 6 + BMP6 + + VGR1 + + + gene with protein product + + + + Ensembl + ENSG00000153162 + + + HGNC + 1073 + + + ClinVar + BMP6 + + + OMIM + 112266 + + + Genatlas + BMP6 + + + SwissProt + P22004 + + + + + 6p24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 464282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464282 + Spastic paraplegia-severe developmental delay-epilepsy syndrome + + Disease + + + Disorder + + + + 26424145[PMID]_26437029[PMID] + + HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 + HACE1 + + KIAA1320 + + + gene with protein product + + + + Reactome + Q8IYU2 + + + HGNC + 21033 + + + OMIM + 610876 + + + SwissProt + Q8IYU2 + + + Ensembl + ENSG00000085382 + + + Genatlas + HACE1 + + + ClinVar + HACE1 + + + + + 6q16.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 464288 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464288 + Short stature-brachydactyly-obesity-global developmental delay syndrome + + Malformation syndrome + + + Disorder + + + + 26437029[PMID] + + protein arginine methyltransferase 7 + PRMT7 + + FLJ10640 + KIAA1933 + + + gene with protein product + + + + ClinVar + PRMT7 + + + HGNC + 25557 + + + OMIM + 610087 + + + Genatlas + PRMT7 + + + SwissProt + Q9NVM4 + + + Reactome + Q9NVM4 + + + Ensembl + ENSG00000132600 + + + IUPHAR + 1258 + + + + + 16q22.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 464311 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464311 + Intellectual disability syndrome due to a DYRK1A point mutation + + Etiological subtype + + + Subtype of disorder + + + + 25944381[PMID]_25641759[PMID]_26677511[PMID] + + dual specificity tyrosine phosphorylation regulated kinase 1A + DYRK1A + + + + gene with protein product 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disease + + Disease + + + Disorder + + + + 23129749[PMID]_25352053[PMID]_25930198[PMID] + + caspase recruitment domain family member 11 + CARD11 + + BIMP3 + CARMA1 + bcl10-interacting maguk protein 3 + card-maguk protein 1 + + + gene with protein product + + + + ClinVar + CARD11 + + + Ensembl + ENSG00000198286 + + + Genatlas + CARD11 + + + HGNC + 16393 + + + OMIM + 607210 + + + Reactome + Q9BXL7 + + + SwissProt + Q9BXL7 + + + + + 7p22.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 464443 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464443 + COG6-CGD + + Disease + + + Disorder + + + + 23430903[PMID]_26260076[PMID] + + component of oligomeric golgi complex 6 + COG6 + + COD2 + KIAA1134 + + + gene with protein product + + + + Ensembl + ENSG00000133103 + + + Genatlas + COG6 + + + HGNC + 18621 + + + OMIM + 606977 + + + Reactome + Q9Y2V7 + + + SwissProt + Q9Y2V7 + + + ClinVar + COG6 + + + + + 13q14.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 464440 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464440 + Primary dystonia, DYT27 type + + Disease + + + Disorder + + + + 26004199[PMID] + + collagen type VI alpha 3 chain + COL6A3 + + + + gene with protein product + + + + ClinVar + COL6A3 + + + Ensembl + ENSG00000163359 + + + Genatlas + COL6A3 + + + HGNC + 2213 + + + OMIM + 120250 + + + Reactome + P12111 + + + SwissProt + P12111 + + + + + 2q37.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 464370 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464370 + Neonatal alloimmune neutropenia + + Disease + + + Disorder + + + + + + Fc fragment of IgG receptor IIIb + FCGR3B + + CD16 + CD16b + Fc gamma receptor IIIb + FcRIIIb + FcgammaRIIIb + + + gene with protein product + + + + ClinVar + FCGR3B + + + Ensembl + ENSG00000162747 + + + Genatlas + FCGR3B + + + HGNC + 3620 + + + OMIM + 610665 + + + SwissProt + O75015 + + + Reactome + O75015 + + + + + 1q23.3 + 1 + + + + + Biomarker tested in + + + Assessed + + + + + + 456328 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456328 + X-linked myotubular myopathy-abnormal genitalia syndrome + + Disease + + + Disorder + + + + 9169146[PMID]_26580071[PMID] + + mastermind like domain containing 1 + MAMLD1 + + CG1 + F18 + + + gene with protein product + + + + ClinVar + MAMLD1 + + + Ensembl + ENSG00000013619 + + + Genatlas + MAMLD1 + + + HGNC + 2568 + + + OMIM + 300120 + + + Reactome + Q13495 + + + SwissProt + Q13495 + + + + + Xq28 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 8789451[PMID] + + myotubularin 1 + MTM1 + + + + gene with protein product + + + + ClinVar + MTM1 + + + Ensembl + ENSG00000171100 + + + Genatlas + MTM1 + + + HGNC + 7448 + + + OMIM + 300415 + + + Reactome + Q13496 + + + SwissProt + Q13496 + + + + + Xq28 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 456333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456333 + Hereditary neuroendocrine tumor of small intestine + + Disease + + + Disorder + + + + 25865046[PMID] + + inositol polyphosphate multikinase + IPMK + + + + gene with protein product + + + + HGNC + 20739 + + + OMIM + 609851 + + + Genatlas + IPMK + + + SwissProt + Q8NFU5 + + + Reactome + Q8NFU5 + + + Ensembl + ENSG00000151151 + + + ClinVar + IPMK + + + + + 10q21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 456312 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456312 + Infantile multisystem neurologic-endocrine-pancreatic disease + + Disease + + + Disorder + + + + 25574476[PMID] + + peptidyl-tRNA hydrolase 2 + PTRH2 + + Bcl-2 inhibitor of transcription + BIT1 + CFAP37 + CGI-147 + cilia and flagella associated protein 37 + PTH2 + + + gene with protein product + + + + HGNC + 24265 + + + OMIM + 608625 + + + Genatlas + PTRH2 + + + SwissProt + Q9Y3E5 + + + Ensembl + ENSG00000141378 + + + ClinVar + PTRH2 + + + Reactome + Q9Y3E5 + + + + + 17q23.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 456318 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456318 + Hereditary sensory neuropathy-deafness-dementia syndrome + + Disease + + + Disorder + + + + 21532572[PMID]_23365052[PMID] + + DNA methyltransferase 1 + DNMT1 + + CXXC9 + MCMT + + + gene with protein product + + + + ClinVar + DNMT1 + + + Ensembl + ENSG00000130816 + + + Genatlas + DNMT1 + + + HGNC + 2976 + + + IUPHAR + 2605 + + + OMIM + 126375 + + + Reactome + P26358 + + + SwissProt + P26358 + + + + + 19p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 454840 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454840 + NTHL1-related polyposis + + Disease + + + Disorder + + + + 25938944[PMID]_26559593[PMID] + + nth like DNA glycosylase 1 + NTHL1 + + OCTS3 + NTH1 + + + gene with protein product + + + + ClinVar + NTHL1 + + + HGNC + 8028 + + + OMIM + 602656 + + + Genatlas + NTHL1 + + + SwissProt + P78549 + + + Reactome + P78549 + + + Ensembl + ENSG00000065057 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 454745 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454745 + Kuru + + Disease + + + Disorder + + + + 11120925[PMID] + + prion protein (Kanno blood group) + PRNP + + AltPrP + CD230 + Creutzfeldt-Jakob disease + Gerstmann-Strausler-Scheinker syndrome + PRP + fatal familial insomnia + p27-30 + + + gene with protein product + + + + ClinVar + PRNP + + + Ensembl + ENSG00000171867 + + + Genatlas + PRNP + + + HGNC + 9449 + + + OMIM + 176640 + + + Reactome + P04156 + + + SwissProt + P04156 + + + + + 20p13 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 453533 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453533 + Polyendocrine-polyneuropathy syndrome + + Disease + + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451612 + Familial congenital nasolacrimal duct obstruction + + Morphological anomaly + + + Disorder + + + + 24372406[PMID] + + immunoglobulin superfamily member 3 + IGSF3 + + EWI-3 + MGC117164 + V8 + + + gene with protein product + + + + Ensembl + ENSG00000143061 + + + Genatlas + IGSF3 + + + HGNC + 5950 + + + OMIM + 603491 + + + SwissProt + O75054 + + + ClinVar + IGSF3 + + + + + 1p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 453504 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453504 + Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation + + Etiological subtype + + + Subtype of disorder + + + + 26173930[PMID] + + heterogeneous nuclear ribonucleoprotein K + HNRNPK + + CSBP + transformation upregulated nuclear protein + TUNP + + + gene with protein product + + + + HGNC + 5044 + + + OMIM + 600712 + + + Genatlas + HNRNPK + + + SwissProt + P61978 + + + Reactome + P61978 + + + Ensembl + ENSG00000165119 + + + ClinVar + HNRNPK + + + + + 9q21.32 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 453510 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453510 + Congenital insensitivity to pain with severe intellectual disability + + Disease + + + Disorder + + + + 26068709[PMID] + + clathrin heavy chain like 1 + CLTCL1 + + CHC22 + CLH22 + CLTD + + + gene with protein product + + + + HGNC + 2093 + + + OMIM + 601273 + + + Genatlas + CLTCL1 + + + SwissProt + P53675 + + + Reactome + P53675 + + + Ensembl + ENSG00000070371 + + + ClinVar + CLTCL1 + + + + + 22q11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 448264 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448264 + Isolated focal non-epidermolytic palmoplantar keratoderma + + Disease + + + Disorder + + + + 25285920[PMID] + + transient receptor potential cation channel subfamily V member 3 + TRPV3 + + VRL3 + + + gene with protein product + + + + Ensembl + ENSG00000167723 + + + Genatlas + TRPV3 + + + HGNC + 18084 + + + IUPHAR + 509 + + + OMIM + 607066 + + + Reactome + Q8NET8 + + + SwissProt + Q8NET8 + + + ClinVar + TRPV3 + + + + + 17p13.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 8595410[PMID] + + keratin 16 + KRT16 + + NEPPK + focal non-epidermolytic palmoplantar keratoderma + + + gene with protein product + + + + ClinVar + KRT16 + + + Ensembl + ENSG00000186832 + + + Genatlas + KRT16 + + + HGNC + 6423 + + + OMIM + 148067 + + + SwissProt + P08779 + + + Reactome + P08779 + + + + + 17q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 448251 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448251 + Progressive autosomal recessive ataxia-deafness syndrome + + Disease + + + Disorder + + + + 25205112[PMID] + + solute carrier family 9 member A1 + SLC9A1 + + PPP1R143 + protein phosphatase 1, regulatory subunit 143 + Sodium/hydrogen exchanger 1 + + + gene with protein product + + + + ClinVar + SLC9A1 + + + HGNC + 11071 + + + OMIM + 107310 + + + Genatlas + SLC9A1 + + + SwissProt + P19634 + + + Reactome + P19634 + + + Ensembl + ENSG00000090020 + + + IUPHAR + 948 + + + + + 1p36.11 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 448267 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448267 + Regressive spondylometaphyseal dysplasia + + Malformation syndrome + + + Disorder + + + + 25348816[PMID]_23824842[PMID] + + lamin B receptor + LBR + + DHCR14B + TDRD18 + tudor domain containing 18 + + + gene with protein product + + + + ClinVar + LBR + + + OMIM + 600024 + + + Reactome + Q14739 + + + SwissProt + Q14739 + + + Ensembl + ENSG00000143815 + + + Genatlas + LBR + + + HGNC + 6518 + + + + + 1q42.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 448010 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448010 + CAD-CDG + + Disease + + + Disorder + + + + 25678555[PMID] + + carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase + CAD + + GATD4 + + + gene with protein product + + + + ClinVar + CAD + + + Genatlas + CAD + + + Ensembl + ENSG00000084774 + + + HGNC + 1424 + + + OMIM + 114010 + + + SwissProt + P27708 + + + Reactome + P27708 + + + + + 2p23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 447997 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447997 + Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome + + Disease + + + Disorder + + + + 25930971[PMID]_26041762[PMID]_26138499[PMID] + + solute carrier family 1 member 4 + SLC1A4 + + ASCT-1 + neutral amino acid transporter A + alanine/serine/cysteine/threonine transporter + ASCT1 + SATT + + + gene with protein product + + + + ClinVar + SLC1A4 + + + HGNC + 10942 + + + OMIM + 600229 + + + Genatlas + SLC1A4 + + + SwissProt + P43007 + + + Reactome + P43007 + + + Ensembl + ENSG00000115902 + + + IUPHAR + 873 + + + + + 2p14 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 448242 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448242 + Autosomal recessive brachyolmia + + Malformation syndrome + + + Disorder + + + + 22791835[PMID] + + 3'-phosphoadenosine 5'-phosphosulfate synthase 2 + PAPSS2 + + bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 + sulfate adenylyltransferase + ATPSK2 + adenylyl-sulfate kinase + adenosine 5'-phosphosulfate kinase + PAPS synthase 2 + + + gene with protein product + + + + Ensembl + ENSG00000198682 + + + Genatlas + PAPSS2 + + + HGNC + 8604 + + + OMIM + 603005 + + + Reactome + O95340 + + + SwissProt + O95340 + + + ClinVar + PAPSS2 + + + + + 10q23.2-q23.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 447977 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447977 + Progressive scapulohumeroperoneal distal myopathy + + Disease + + + Disorder + + + + 25938801[PMID] + + actin alpha 1, skeletal muscle + ACTA1 + + NEM3 + nemaline myopathy type 3 + + + gene with protein product + + + + ClinVar + ACTA1 + + + OMIM + 102610 + + + Reactome + P68133 + + + SwissProt + P68133 + + + Ensembl + ENSG00000143632 + + + Genatlas + ACTA1 + + + HGNC + 129 + + + + + 1q42.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 447974 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447974 + Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome + + Malformation syndrome + + + Disorder + + + + 25748484[PMID] + + myosin XVIIIB + MYO18B + + BK125H2.1 + + + gene with protein product + + + + HGNC + 18150 + + + OMIM + 607295 + + + Genatlas + MYO18B + + + SwissProt + Q8IUG5 + + + Ensembl + ENSG00000133454 + + + ClinVar + MYO18B + + + + + 22q12.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 447980 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447980 + 19p13.3 microduplication syndrome + + Malformation syndrome + + + Disorder + + + + 29184170[PMID] + + nuclear factor I X + NFIX + + NF1A + CCAAT-binding transcription factor + + + gene with protein product + + + + ClinVar + NFIX + + + Ensembl + ENSG00000008441 + + + Genatlas + NFIX + + + HGNC + 7788 + + + OMIM + 164005 + + + Reactome + Q14938 + + + SwissProt + Q14938 + + + + + 19p13.13 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 447954 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447954 + Combined oxidative phosphorylation defect type 25 + + Disease + + + Disorder + + + + 25754315[PMID] + + methionyl-tRNA synthetase 2, mitochondrial + MARS2 + + Methionine tRNA ligase 2, mitochondrial + SPAX3 + mtMetRS + methionine tRNA ligase 2, mitochondrial + + + gene with protein product + + + + Ensembl + ENSG00000247626 + + + Genatlas + MARS2 + + + HGNC + 25133 + + + OMIM + 609728 + + + Reactome + Q96GW9 + + + SwissProt + Q96GW9 + + + ClinVar + mars-02 + + + + + 2q33.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 447964 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447964 + Autosomal dominant Charcot-Marie-Tooth disease type 2V + + Disease + + + Disorder + + + + 25818867[PMID] + + N-acetyl-alpha-glucosaminidase + NAGLU + + NAG + Sanfilippo disease IIIB + + + gene with protein product + + + + Ensembl + ENSG00000108784 + + + Genatlas + NAGLU + + + HGNC + 7632 + + + OMIM + 609701 + + + Reactome + P54802 + + + SwissProt + P54802 + + + ClinVar + NAGLU + + + + + 17q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 447961 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447961 + Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome + + Disease + + + Disorder + + + + 25315659[PMID] + + SAM and SH3 domain containing 1 + SASH1 + + KIAA0790 + SH3D6A + dJ323M4.1 + + + gene with protein product + + + + Ensembl + ENSG00000111961 + + + Genatlas + SASH1 + + + HGNC + 19182 + + + OMIM + 607955 + + + SwissProt + O94885 + + + ClinVar + SASH1 + + + + + 6q24.3-q25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 459033 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459033 + Ataxia-oculomotor apraxia type 4 + + Disease + + + Disorder + + + + 25728773[PMID] + + polynucleotide kinase 3'-phosphatase + PNKP + + PNK + bifunctional polynucleotide phosphatase/kinase + + + gene with protein product + + + + Ensembl + ENSG00000039650 + + + Genatlas + PNKP + + + HGNC + 9154 + + + OMIM + 605610 + + + Reactome + Q96T60 + + + SwissProt + Q96T60 + + + ClinVar + PNKP + + + + + 19q13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 459051 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459051 + Spondyloepiphyseal dysplasia, Stanescu type + + Disease + + + Disorder + + + + 26183434[PMID] + + collagen type II alpha 1 chain + COL2A1 + + STL1 + + + gene with protein product + + + + ClinVar + COL2A1 + + + Ensembl + ENSG00000139219 + + + Genatlas + COL2A1 + + + HGNC + 2200 + + + OMIM + 120140 + + + Reactome + P02458 + + + SwissProt + P02458 + + + + + 12q13.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 459061 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459061 + Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome + + Malformation syndrome + + + Disorder + + + + 26220823[PMID] + + diphthamide biosynthesis 1 + DPH1 + + ovarian tumor suppressor candidate 1 + OVCA1 + + + gene with protein product + + + + ClinVar + DPH1 + + + HGNC + 3003 + + + OMIM + 603527 + + + Genatlas + DPH1 + + + SwissProt + Q9BZG8 + + + Reactome + Q9BZG8 + + + Ensembl + ENSG00000108963 + + + + + 17p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 32576952[PMID] + + diphthamide biosynthesis 2 + DPH2 + + 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 + + + gene with protein product + + + + HGNC + 3004 + + + OMIM + 603456 + + + SwissProt + Q9BQC3 + + + Ensembl + ENSG00000132768 + + + + + 1p34.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 459056 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459056 + Autosomal recessive spastic paraplegia type 75 + + Disease + + + Disorder + + + + 26179919[PMID] + + myelin associated glycoprotein + MAG + + S-MAG + sialic acid binding Ig-like lectin 4A + SIGLEC-4A + SIGLEC4A + SIGLEC4 + + + gene with protein product + + + + ClinVar + MAG + + + HGNC + 6783 + + + OMIM + 159460 + + + Genatlas + MAG + + + SwissProt + P20916 + + + Reactome + P20916 + + + Ensembl + ENSG00000105695 + + + + + 19q13.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 459070 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459070 + X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome + + Malformation syndrome + + + Disorder + + + + 26290468[PMID] + + ribosomal protein L10 + RPL10 + + DXS648 + DXS648E + FLJ23544 + L10 + NOV + QM + uL16 + + + gene with protein product + + + + ClinVar + RPL10 + + + Ensembl + ENSG00000147403 + + + Genatlas + RPL10 + + + HGNC + 10298 + + + OMIM + 312173 + + + Reactome + P27635 + + + SwissProt + P27635 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 458798 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458798 + Spinocerebellar ataxia type 41 + + Disease + + + Disorder + + + + 25477146[PMID] + + transient receptor potential cation channel subfamily C member 3 + TRPC3 + + + + gene with protein product + + + + OMIM + 602345 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syndrome + + Malformation syndrome + + + Disorder + + + + 25851998[PMID]_26542245[PMID] + + mechanistic target of rapamycin kinase + MTOR + + FK506 binding protein 12-rapamycin associated protein 2 + FKBP-rapamycin associated protein + FKBP12-rapamycin complex-associated protein 1 + FLJ44809 + RAFT1 + RAPT1 + dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1) + mammalian target of rapamycin + rapamycin and FKBP12 target 1 + rapamycin associated protein FRAP2 + rapamycin target protein + + + gene with protein product + + + + Ensembl + ENSG00000198793 + + + Genatlas + MTOR + + + HGNC + 3942 + + + IUPHAR + 2109 + + + OMIM + 601231 + + + Reactome + P42345 + + + SwissProt + P42345 + + + ClinVar + MTOR + + + + + 1p36.22 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 457265 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457265 + Progressive myoclonic epilepsy type 9 + + Disease + + + Disorder + + + + 25954030[PMID] + + lamin B2 + LMNB2 + + + + gene with protein product + + + + Ensembl + ENSG00000176619 + + + Genatlas + LMNB2 + + + HGNC + 6638 + + + OMIM + 150341 + + + SwissProt + Q03252 + + + Reactome + Q03252 + + + ClinVar + LMNB2 + + + + + 19p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 457279 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457279 + Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome + + Malformation syndrome + + + Disorder + + + + 26168268[PMID] + + protein phosphatase 2 regulatory subunit B'delta + PPP2R5D + + B56delta + B56D + Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform + + + gene with protein product + + + + ClinVar + PPP2R5D + + + HGNC + 9312 + + + OMIM + 601646 + + + Genatlas + PPP2R5D + + + SwissProt + Q14738 + + + Reactome + Q14738 + + + Ensembl + ENSG00000112640 + + + + + 6p21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 457260 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457260 + X-linked intellectual disability-hypotonia-movement disorder syndrome + + Disease + + + Disorder + + + + 26235985[PMID] + + DEAD-box helicase 3 X-linked + DDX3X + + DBX + DDX14 + HLP2 + Helicase-like protein 2 + CAP-Rf + + + gene with protein product + + + + Ensembl + ENSG00000215301 + + + Genatlas + DDX3X + + + HGNC + 2745 + + + OMIM + 300160 + + + SwissProt + O00571 + + + Reactome + O00571 + + + ClinVar + DDX3X + + + + + Xp11.4 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 457240 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457240 + X-linked intellectual disability-short stature-overweight syndrome + + Malformation syndrome + + + Disorder + + + + 26166480[PMID] + + THO complex subunit 2 + THOC2 + + dJ506G2.1 + THO2 + + + gene with protein product + + + + ClinVar + THOC2 + + + HGNC + 19073 + + + OMIM + 300395 + + + Genatlas + THOC2 + + + SwissProt + Q8NI27 + + + Reactome + Q8NI27 + + + Ensembl + ENSG00000125676 + + + + + Xq25 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 457246 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457246 + Clear cell sarcoma of kidney + + Disease + + + Disorder + + + + 26098867[PMID] + + BCL6 corepressor + BCOR + + BCL-6 coreceptor + BCL6 interacting corepressor + FLJ20285 + KIAA1575 + + + gene with protein product + + + + Reactome + Q6W2J9 + + + ClinVar + BCOR + + + Genatlas + BCOR + + + HGNC + 20893 + + + OMIM + 300485 + + + SwissProt + Q6W2J9 + + + Ensembl + ENSG00000183337 + + + + + Xp11.4 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 22294382[PMID] + + tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon + YWHAE + + 14-3-3 epsilon + FLJ45465 + + + gene with protein product + + + + ClinVar + YWHAE + + + Ensembl + ENSG00000108953 + + + Genatlas + YWHAE + + + HGNC + 12851 + + + OMIM + 605066 + + + Reactome + P62258 + + + SwissProt + P62258 + + + + + 17p13.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 22294382[PMID] + + NUT family member 2B + NUTM2B + + bA119F19.1 + + + gene with protein product + + + + ClinVar + FAM22B + + + Ensembl + ENSG00000188199 + + + Genatlas + FAM22B + + + HGNC + 23445 + + + SwissProt + A6NNL0 + + + + + 10q22.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 22294382[PMID] + + NUT family member 2E + NUTM2E + + + + gene with protein product + + + + ClinVar + FAM22E + + + SwissProt + B1AL46 + + + Ensembl + ENSG00000228570 + + + HGNC + 23448 + + + Genatlas + FAM22E + + + + + 10q22.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 25481751[PMID]_26493387[PMID] + + telomerase reverse transcriptase + TERT + + EST2 + TCS1 + TP2 + TRT + hEST2 + + + gene with protein product + + + + Ensembl + ENSG00000164362 + + + Genatlas + TERT + + + HGNC + 11730 + + + OMIM + 187270 + + + Reactome + O14746 + + + SwissProt + O14746 + + + ClinVar + TERT + + + + + 5p15.33 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 25481751[PMID]_26493387[PMID] + + iroquois homeobox 2 + IRX2 + + + + gene with protein product + + + + ClinVar + IRX2 + + + HGNC + 14359 + + + OMIM + 606198 + + + Genatlas + IRX2 + + + SwissProt + Q9BZI1 + + + Ensembl + ENSG00000170561 + + + + + 5p15.33 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 457395 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457395 + Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome + + Malformation syndrome + + + Disorder + + + + 26365341[PMID] + + ring finger and SPRY domain containing 1 + RSPRY1 + + KIAA1972 + + + gene with protein product + + + + ClinVar + RSPRY1 + + + HGNC + 29420 + + + OMIM + 616585 + + + Genatlas + RSPRY1 + + + SwissProt + Q96DX4 + + + Ensembl + ENSG00000159579 + + + + + 16q13 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 457406 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457406 + Multiple mitochondrial dysfunctions syndrome type 4 + + Disease + + + Disorder + + + + 25539947[PMID] + + iron-sulfur cluster assembly 2 + ISCA2 + + ISA2 + + + gene with protein product + + + + HGNC + 19857 + + + OMIM + 615317 + + + Genatlas + ISCA2 + + + SwissProt + Q86U28 + + + Ensembl + ENSG00000165898 + + + Reactome + Q86U28 + + + ClinVar + ISCA2 + + + + + 14q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 457375 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457375 + ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement + + Disease + + + Disorder + + + + 26224535[PMID] + + inosine triphosphatase + ITPA + + HLC14-06-P + dJ794I6.3 + nucleoside-triphosphate diphosphatase + + + gene with protein product + + + + ClinVar + ITPA + + + Ensembl + ENSG00000125877 + + + Genatlas + ITPA + + + HGNC + 6176 + + + OMIM + 147520 + + + Reactome + Q9BY32 + + + SwissProt + Q9BY32 + + + + + 20p13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 457378 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457378 + Complex lethal osteochondrodysplasia + + Malformation syndrome + + + Disorder + + + + 26365339[PMID] + + transmembrane anterior posterior transformation 1 + TAPT1 + + FLJ90013 + + + gene with protein product + + + + ClinVar + TAPT1 + + + HGNC + 26887 + + + OMIM + 612758 + + + Genatlas + TAPT1 + + + SwissProt + Q6NXT6 + + + Ensembl + ENSG00000169762 + + + + + 4p15.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 457359 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457359 + Megalencephaly-severe kyphoscoliosis-overgrowth syndrome + + Malformation syndrome + + + Disorder + + + + 26138117[PMID]_27108999[PMID] + + HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 + HERC1 + + p532 + p619 + + + gene with protein product + + + + HGNC + 4867 + + + OMIM + 605109 + + + Genatlas + HERC1 + + + SwissProt + Q15751 + + + Reactome + Q15751 + + + Ensembl + ENSG00000103657 + + + ClinVar + HERC1 + + + + + 15q22.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 457284 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457284 + Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome + + Malformation syndrome + + + Disorder + + + + 26168268[PMID] + + protein phosphatase 2 scaffold subunit Aalpha + PPP2R1A + + PP2AA + PP2A-Aalpha + PR65A + protein phosphatase 2, 65kDa regulatory subunit A + protein phosphatase 2A, regulatory subunit A, alpha isoform + Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform + protein phosphatase 2A structural subunit A, alpha isoform + + + gene with protein product + + + + ClinVar + PPP2R1A + + + HGNC + 9302 + + + OMIM + 605983 + + + Genatlas + PPP2R1A + + + SwissProt + P30153 + + + Reactome + P30153 + + + Ensembl + ENSG00000105568 + + + + + 19q13.41 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 457351 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457351 + Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome + + Malformation syndrome + + + Disorder + + + + 26299366[PMID] + + AAA ATPase AFG2A + AFG2A + + AFG2 + ATPase family gene 2 homolog (S. cerevisiae) + SPAF + + + gene with protein product + + + + HGNC + 18119 + + + OMIM + 613940 + + + Genatlas + SPATA5 + + + SwissProt + Q8NB90 + + + Ensembl + ENSG00000145375 + + + ClinVar + SPATA5 + + + + + 4q28.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 457185 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457185 + Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome + + Disease + + + Disorder + + + + 25658047[PMID]_26185144[PMID] + + coenzyme Q4 + COQ4 + + CGI-92 + + + gene with protein product + + + + OMIM + 612898 + + + HGNC + 19693 + + + Genatlas + COQ4 + + + SwissProt + Q9Y3A0 + + + Ensembl + ENSG00000167113 + + + ClinVar + COQ4 + + + + + 9q34.11 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 457088 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457088 + Predisposition to invasive fungal disease due to CARD9 deficiency + + Disease + + + Disorder + + + + 19864672[PMID]_24131138[PMID] + + caspase recruitment domain family member 9 + CARD9 + + + + gene with protein product + + + + Ensembl + ENSG00000187796 + + + Genatlas + CARD9 + + + HGNC + 16391 + + + OMIM + 607212 + + + Reactome + Q9H257 + + + SwissProt + Q9H257 + + + ClinVar + CARD9 + + + + + 9q34.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 457223 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457223 + Syndromic sensorineural deafness due to combined oxidative phosphorylation defect + + Disease + + + Disorder + + + + 25556185[PMID] + + mitochondrial ribosomal protein S7 + MRPS7 + + MRP-S + RP-S7 + RPMS7 + uS7m + + + gene with protein product + + + + ClinVar + MRPS7 + + + HGNC + 14499 + + + OMIM + 611974 + + + Genatlas + MRPS7 + + + SwissProt + Q9Y2R9 + + + Reactome + Q9Y2R9 + + + Ensembl + ENSG00000125445 + + + + + 17q25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 457212 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457212 + Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome + + Disease + + + Disorder + + + + 25704603[PMID] + + solute carrier family 6 member 17 + SLC6A17 + + neurotransmitter transporter 4 + NTT4 + Sodium-dependent neutral amino acid transporter SLC6A17 + + + gene with protein product + + + + ClinVar + SLC6A17 + + + Ensembl + ENSG00000197106 + + + Genatlas + SLC6A17 + + + HGNC + 31399 + + + IUPHAR + 943 + + + OMIM + 610299 + + + SwissProt + Q9H1V8 + + + + + 1p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 457193 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457193 + KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome + + Malformation syndrome + + + Disorder + + + + 25728775[PMID]_25728777[PMID] + + lysine acetyltransferase 6A + KAT6A + + MOZ + Monocytic leukemia zinc finger protein + ZC2HC6A + + + gene with protein product + + + + Ensembl + ENSG00000083168 + + + Genatlas + KAT6A + + + HGNC + 13013 + + + OMIM + 601408 + + + Reactome + Q92794 + + + SwissProt + Q92794 + + + IUPHAR + 2665 + + + ClinVar + KAT6A + + + + + 8p11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 456369 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456369 + Polyglucosan body myopathy type 2 + + Disease + + + Disorder + + + + 25272951[PMID] + + glycogenin 1 + GYG1 + + glycogenin glucosyltransferase + + + gene with protein product + + + + ClinVar + GYG1 + + + Ensembl + ENSG00000163754 + + + Genatlas + GYG1 + + + HGNC + 4699 + + + OMIM + 603942 + + + Reactome + P46976 + + + SwissProt + P46976 + + + + + 3q24 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 457050 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457050 + Autosomal dominant mitochondrial myopathy with exercise intolerance + + Disease + + + Disorder + + + + 25193783[PMID] + + coiled-coil-helix-coiled-coil-helix domain containing 10 + CHCHD10 + + MIX17 homolog A + MIX17A + N27C7-4 + + + gene with protein product + + + + Reactome + Q8WYQ3 + + + ClinVar + CHCHD10 + + + Ensembl + ENSG00000250479 + + + Genatlas + CHCHD10 + + + HGNC + 15559 + + + OMIM 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gene with protein product + + + + HGNC + 2895 + + + OMIM + 604095 + + + Reactome + Q9UNE0 + + + SwissProt + Q9UNE0 + + + IUPHAR + 2325 + + + Ensembl + ENSG00000135960 + + + Genatlas + EDAR + + + ClinVar + EDAR + + + + + 2q13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + EDAR associated via death domain + EDARADD + + crinkled + Ectodysplasin-A receptor-associated adapter protein + CR + + + gene with protein product + + + + Ensembl + ENSG00000186197 + + + Genatlas + EDARADD + + + HGNC + 14341 + + + OMIM + 606603 + + + Reactome + Q8WWZ3 + + + SwissProt + Q8WWZ3 + + + ClinVar + EDARADD + + + + + 1q42.3-q43 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + Wnt family member 10A + WNT10A + + + + gene with protein product + + + + ClinVar + WNT10A + + + HGNC + 13829 + + + OMIM + 606268 + + + Reactome + Q9GZT5 + + + SwissProt + Q9GZT5 + + + Ensembl + ENSG00000135925 + + + Genatlas + WNT10A + + + + + 2q35 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 30425301[PMID] + + cystatin B + CSTB + + CST6 + PME + stefin B + Epilepsy, progressive myoclonic 1 + + + gene with protein product + + + + ClinVar + CSTB + + + Reactome + P04080 + + + Ensembl + ENSG00000160213 + + + Genatlas + CSTB + + + HGNC + 2482 + + + OMIM + 601145 + + + SwissProt + P04080 + + + + + 21q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 1810 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1810 + Autosomal dominant hypohidrotic ectodermal dysplasia + + Etiological subtype + + + Subtype of disorder + + + + + + ectodysplasin A receptor + EDAR + + ED1R + ED5 + EDA1R + EDA3 + Edar + ectodysplasin A1 receptor + Tumor necrosis factor receptor superfamily member EDAR + + + gene with protein product + + + + HGNC + 2895 + + + OMIM + 604095 + + + Reactome + Q9UNE0 + + + SwissProt + Q9UNE0 + + + IUPHAR + 2325 + + + Ensembl + ENSG00000135960 + + + Genatlas + EDAR + + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2032 + Idiopathic pulmonary fibrosis + + Disease + + + Disorder + + + + 13680361[PMID] + + surfactant protein A1 + SFTPA1 + + COLEC4 + SP-A + SP-A1 + surfactant, pulmonary-associated protein A1A + + + gene with protein product + + + + ClinVar + SFTPA1 + + + Ensembl + ENSG00000122852 + + + Genatlas + SFTPA1 + + + HGNC + 10798 + + + OMIM + 178630 + + + Reactome + Q8IWL2 + + + SwissProt + Q8IWL2 + + + + + 10q22.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 23583980[PMID] + + desmoplakin + DSP + + DP + DPI + DPII + KPPS2 + PPKS2 + + + gene with protein product + + + + ClinVar + DSP + + + Ensembl + ENSG00000096696 + + + Genatlas + DSP + + + HGNC + 3052 + + + OMIM + 125647 + + + Reactome + P15924 + + + SwissProt + P15924 + + + + + 6p24.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 17460043[PMID] + + telomerase reverse transcriptase + TERT + + EST2 + TCS1 + TP2 + TRT + hEST2 + + + gene with protein product + + + + Ensembl + ENSG00000164362 + + + Genatlas + TERT + + + HGNC + 11730 + + + OMIM + 187270 + + + Reactome + O14746 + + + SwissProt + O14746 + + + ClinVar + TERT + + + + + 5p15.33 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 17392301[PMID]_18753630[PMID] + + telomerase RNA component + TERC + + TER + SCARNA19 + TR + TRC3 + hTR + small Cajal body-specific RNA 19 + + + Non-coding RNA + + + + Ensembl + ENSG00000270141 + + + Genatlas + TERC + + + ClinVar + TERC + + + HGNC + 11727 + + + OMIM + 602322 + + + + + 3q26.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 21506741[PMID]_21506748[PMID] + + mucin 5B, oligomeric mucus/gel-forming + MUC5B + + MG1 + mucin MG1 + MUC-5B + + + gene with protein product + + + + Ensembl + ENSG00000117983 + + + Genatlas + MUC5B + + + HGNC + 7516 + + + OMIM + 600770 + + + Reactome + Q9HC84 + + + SwissProt + Q9HC84 + + + ClinVar + MUC5B + + + + + 11p15.5 + 1 + + + + + Major susceptibility factor 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Ensembl + ENSG00000138640 + + + Genatlas + FAM13A + + + HGNC + 19367 + + + OMIM + 613299 + + + Reactome + O94988 + + + SwissProt + O94988 + + + + + 4q22.1 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 23583980[PMID] + + STN1 subunit of CST complex + STN1 + + FLJ22559 + bA541N10.2 + + + gene with protein product + + + + Reactome + Q9H668 + + + ClinVar + OBFC1 + + + Ensembl + ENSG00000107960 + + + Genatlas + OBFC1 + + + HGNC + 26200 + + + OMIM + 613128 + + + SwissProt + Q9H668 + + + + + 10q24.33 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 23583980[PMID] + + ATPase phospholipid transporting 11A + ATP11A + + ATPIH + ATPIS + KIAA1021 + Phospholipid-translocating ATPase + Potential phospholipid-transporting ATPase IH + phospholipid-translocating ATPase + potential phospholipid-transporting ATPase IH + phospholipid-transporting ATPase IH + + + gene with protein product + + + + IUPHAR + 865 + + + ClinVar + ATP11A + + + Ensembl + ENSG00000068650 + + 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SP-C + + + gene with protein product + + + + ClinVar + SFTPC + + + Ensembl + ENSG00000168484 + + + Genatlas + SFTPC + + + HGNC + 10802 + + + OMIM + 178620 + + + Reactome + P11686 + + + SwissProt + P11686 + + + + + 8p21.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 25553246[PMID] + + ATP binding cassette subfamily A member 3 + ABCA3 + + ABC-C + EST111653 + LBM180 + + + gene with protein product + + + + ClinVar + ABCA3 + + + IUPHAR + 758 + + + Ensembl + ENSG00000167972 + + + Genatlas + ABCA3 + + + HGNC + 33 + + + OMIM + 601615 + + + Reactome + Q99758 + + + SwissProt + Q99758 + + + + + 16p13.3 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 198 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=198 + Occipital horn syndrome + + Disease + + + Disorder + + + + 20301586[PMID] + + ATPase copper transporting alpha + ATP7A + + copper pump 1 + copper-transporting ATPase 1 + + + gene with protein product + + + + IUPHAR + 852 + + + Ensembl + ENSG00000165240 + + + Genatlas + ATP7A + + + HGNC + 869 + + + OMIM + 300011 + + + Reactome + Q04656 + + + SwissProt + Q04656 + + + ClinVar + ATP7A + + + + + Xq21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 891 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=891 + Familial exudative vitreoretinopathy + + Disease + + + Disorder + + + + 28575650[PMID] + + catenin beta 1 + CTNNB1 + + armadillo + beta-catenin + + + gene with protein product + + + + ClinVar + CTNNB1 + + + Ensembl + ENSG00000168036 + + + Genatlas + CTNNB1 + + + HGNC + 2514 + + + OMIM + 116806 + + + Reactome + P35222 + + + SwissProt + P35222 + + + + + 3p22.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 20301326[PMID] + + frizzled class receptor 4 + FZD4 + + CD344 + + + gene with protein product + + + + ClinVar + FZD4 + + + Ensembl + ENSG00000174804 + + + Genatlas + FZD4 + + + HGNC + 4042 + + + IUPHAR + 232 + + + OMIM + 604579 + + + Reactome + Q9ULV1 + + + SwissProt + Q9ULV1 + + + + + 11q14.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301326[PMID] + + LDL receptor related protein 5 + LRP5 + + BMND1 + EVR4 + HBM + LR3 + OPS + OPTA1 + VBCH2 + + + gene with protein product + + + + ClinVar + LRP5 + + + Ensembl + ENSG00000162337 + + + Genatlas + LRP5 + + + HGNC + 6697 + + + OMIM + 603506 + + + Reactome + O75197 + + + SwissProt + O75197 + + + + + 11q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301506[PMID] + + norrin cystine knot growth factor NDP + NDP + + norrin + + + gene with protein product + + + + Reactome + Q00604 + + + ClinVar + NDP + + + Ensembl + ENSG00000124479 + + + Genatlas + NDP + + + HGNC + 7678 + + + OMIM + 300658 + + + SwissProt + Q00604 + + + + + Xp11.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301326[PMID] + + tetraspanin 12 + TSPAN12 + + NET-2 + + + gene with protein product + + + + ClinVar + TSPAN12 + + + Ensembl + ENSG00000106025 + + + Genatlas + TSPAN12 + + + HGNC + 21641 + + + OMIM + 613138 + + + SwissProt + O95859 + + + + + 7q31.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23716659[PMID] + + zinc finger protein 408 + ZNF408 + + FLJ12827 + PRDM17 + PR/SET domain 17 + + + gene with protein product + + + + Ensembl + ENSG00000175213 + + + Genatlas + ZNF408 + + + HGNC + 20041 + + + OMIM + 616454 + + + SwissProt + Q9H9D4 + + + Reactome + Q9H9D4 + + + ClinVar + ZNF408 + + + + + 11p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 466688 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466688 + Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome + + Malformation syndrome + + + Disorder + + + + 25388005[PMID] + + FERM domain containing 4A + FRMD4A + + bA295P9.4 + FLJ10210 + KIAA1294 + + + gene with protein product + + + 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chromatin remodeling complex subunit ATPase 4 + SMARCA4 + + ATP-dependent helicase SMARCA4 + BAF190 + BRG1 + BRM/SWI2-related gene 1 + FLJ39786 + SNF2 + SNF2-BETA + SNF2-like 4 + SNF2LB + SWI2 + brahma protein-like 1 + global transcription activator homologous sequence + hSNF2b + homeotic gene regulator + mitotic growth and transcription activator + nuclear protein GRB1 + sucrose nonfermenting-like 4 + + + gene with protein product + + + + Ensembl + ENSG00000127616 + + + Genatlas + SMARCA4 + + + HGNC + 11100 + + + IUPHAR + 2740 + + + OMIM + 603254 + + + Reactome + P51532 + + + SwissProt + P51532 + + + ClinVar + SMARCA4 + + + + + 19p13.2 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 466950 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466950 + Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation + + Clinical subtype + + + Subtype of disorder + + + + 26264232[PMID] + + WW domain containing adaptor with coiled-coil + WAC + + MGC10753 + Wwp4 + FLJ31290 + BM-016 + PRO1741 + + + gene with protein product + + + + Ensembl + ENSG00000095787 + + + Reactome + Q9BTA9 + + + HGNC + 17327 + + + SwissProt + Q9BTA9 + + + ClinVar + WAC + + + OMIM + 615049 + + + Genatlas + WAC + + + + + 10p12.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 466926 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466926 + Seizures-scoliosis-macrocephaly syndrome + + Disease + + + Disorder + + + + 26246518[PMID] + + exostosin glycosyltransferase 2 + EXT2 + + Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase + N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase + SOTV + + + gene with protein product + + + + ClinVar + EXT2 + + + Ensembl + ENSG00000151348 + + + Genatlas + EXT2 + + + HGNC + 3513 + + + OMIM + 608210 + + + Reactome + Q93063 + + + SwissProt + Q93063 + + + + + 11p11.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 466934 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466934 + VPS11-related autosomal recessive hypomyelinating leukodystrophy + + Disease + + + Disorder + + + + 26307567[PMID] + + VPS11 core subunit of CORVET and HOPS complexes + VPS11 + + PEP5 + RNF108 + + + gene with protein product + + + + HGNC + 14583 + + + OMIM + 608549 + + + Genatlas + VPS11 + + + SwissProt + Q9H270 + + + Ensembl + ENSG00000160695 + + + ClinVar + VPS11 + + + + + 11q23.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 466921 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466921 + Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome + + Disease + + + Disorder + + + + 26581302[PMID] + + titin + TTN + + CMH9 + CMPD4 + FLJ32040 + LGMD2J + MYLK5 + TMD + + + gene with protein product + + + + Reactome + Q8WZ42 + + + SwissProt + Q8WZ42 + + + ClinVar + TTN + + + Ensembl + ENSG00000155657 + + + Genatlas + TTN + + + HGNC + 12403 + + + IUPHAR + 2265 + + + OMIM + 188840 + + + + + 2q31.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 466806 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466806 + Autosomal dominant thrombocytopenia with platelet secretion defect + + Disease + + + Disorder + + + + 26280575[PMID] + + schlafen family member 14 + SLFN14 + + + + gene with protein product + + + + OMIM + 614958 + + + SwissProt + P0C7P3 + + + Ensembl + ENSG00000236320 + + + HGNC + 32689 + + + ClinVar + SLFN14 + + + Genatlas + SLFN14 + + + + + 17q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 466794 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466794 + Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome + + Disease + + + Disorder + + + + 26581903[PMID] + + SCY1 like pseudokinase 1 + SCYL1 + + TRAP + P105 + NKTL + TEIF + TAPK + GKLP + HT019 + MGC78454 + telomerase transcriptional elements-interacting factor + teratoma-associated tyrosine kinase + telomerase regulation-associated protein + + + gene with protein product + + + + OMIM + 607982 + + + Ensembl + ENSG00000142186 + + + IUPHAR + 2195 + + + ClinVar + SCYL1 + + + HGNC + 14372 + + + Genatlas + SCYL1 + + + SwissProt + Q96KG9 + + + + + 11q13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 466791 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466791 + Macrocephaly-intellectual disability-left ventricular non compaction syndrome + + Malformation syndrome + + + Disorder + + + + 26571461[PMID] + + non-POU domain containing octamer binding + NONO + + NMT55 + NRB54 + Nuclear RNA-binding protein, 54-kD + P54 + P54NRB + PPP1R114 + non-Pou domain-containing octamer (ATGCAAAT) binding protein + protein phosphatase 1, regulatory subunit 114 + + + gene with protein product + + + + Reactome + Q15233 + + + Ensembl + ENSG00000147140 + + + Genatlas + NONO + + + HGNC + 7871 + + + OMIM + 300084 + + + SwissProt + Q15233 + + + ClinVar + NONO + + + + + Xq13.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 466784 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466784 + Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect + + Disease + + + Disorder + + + + 26522469[PMID] + + solute carrier family 25 member 26 + SLC25A26 + + S-adenosylmethionine mitochondrial carrier protein + SAMC + + + gene with protein product + + + + HGNC + 20661 + + + OMIM + 611037 + + + Genatlas + SLC25A26 + + + SwissProt + Q70HW3 + + + Reactome + Q70HW3 + + + Ensembl + ENSG00000144741 + + + IUPHAR + 1074 + + + ClinVar + SLC25A26 + + + + + 3p14.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 466775 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466775 + Autosomal recessive Charcot-Marie-Tooth disease type 2X + + Disease + + + Disorder + + + + 26556829[PMID] + + SPG11 vesicle trafficking associated, spatacsin + SPG11 + + FLJ21439 + spatacsin + + + gene with protein product + + + + ClinVar + SPG11 + + + Ensembl + ENSG00000104133 + + + Genatlas + SPG11 + + + HGNC + 11226 + + + OMIM + 610844 + + + SwissProt + Q96JI7 + + + + + 15q21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 466768 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466768 + Autosomal dominant Charcot-Marie-Tooth disease type 2Z + + Disease + + + Disorder + + + + 26497905[PMID] + + MORC family CW-type zinc finger 2 + MORC2 + + ZCW3 + KIAA0852 + AC004542.C22.1 + + + gene with protein product + + + + Reactome + Q9Y6X9 + + + OMIM + 616661 + + + HGNC + 23573 + + + Genatlas + MORC2 + + + ClinVar + MORC2 + + + Ensembl + ENSG00000133422 + + + SwissProt + Q9Y6X9 + + + + + 22q12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 466729 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466729 + Familial patent arterial duct + + Morphological anomaly + + + Disorder + + + + 21643846[PMID] + + transcription factor AP-2 beta + TFAP2B + + AP2-B + AP-2beta + + + gene with protein product + + + + Ensembl + ENSG00000008196 + + + Genatlas + TFAP2B + + + HGNC + 11743 + + + ClinVar + TFAP2B + + + OMIM + 601601 + + + SwissProt + Q92481 + + + Reactome + Q92481 + + + + + 6p12.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 27181681[PMID] + + PR/SET domain 6 + PRDM6 + + KMT8C + PRISM + + + gene with protein product + + + + HGNC + 9350 + + + OMIM + 616982 + + + Genatlas + PRDM6 + + + SwissProt + Q9NQX0 + + + Ensembl + ENSG00000061455 + + + ClinVar + PRDM6 + + + + + 5q23.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 466722 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466722 + Autosomal recessive spastic paraplegia type 77 + + Disease + + + Disorder + + + + 26553276[PMID] + + phenylalanyl-tRNA synthetase 2, mitochondrial + FARS2 + + mtPheRS + phenylalanine tRNA ligase 2, mitochondrial + Phenylalanine tRNA ligase 2, mitochondrial + dJ236A3.1 + + + gene with protein product + + + + Ensembl + ENSG00000145982 + + + Genatlas + FARS2 + + + HGNC + 21062 + + + OMIM + 611592 + + + Reactome + O95363 + + + SwissProt + O95363 + + + ClinVar + FARS2 + + + + + 6p25.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 466718 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466718 + Martinique crinkled retinal pigment epitheliopathy + + Disease + + + Disorder + + + + 26744326[PMID] + + MAPK activated protein kinase 3 + MAPKAPK3 + + 3PK + MAPKAP3 + 3pK + MK3 + MK-3 + + + gene with protein product + + + + OMIM + 602130 + + + Genatlas + MAPKAPK3 + + + SwissProt + Q16644 + + + Reactome + Q16644 + + + Ensembl + ENSG00000114738 + + + ClinVar + MAPKAPK3 + + + HGNC + 6888 + + + IUPHAR + 2095 + + + + + 3p21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 466703 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466703 + TMEM199-CDG + + Disease + + + Disorder + + + + 26833330[PMID] + + vacuolar ATPase assembly factor VMA12 + VMA12 + + VPH2 + MGC45714 + + + gene with protein product + + + + Reactome + Q8N511 + + + Ensembl + ENSG00000244045 + + + ClinVar + TMEM199 + + + Genatlas + TMEM199 + + + SwissProt + Q8N511 + + + OMIM + 616815 + + + HGNC + 18085 + + + + + 17q11.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 465824 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465824 + Fetal encasement syndrome + + Malformation syndrome + + + Disorder + + + + 20961246[PMID] + + component of inhibitor of nuclear factor kappa B kinase complex + CHUK + + IkBKA + IKK-alpha + IKK1 + IKKA + NFKBIKA + I-kappa-B kinase + inhibitor of nuclear factor kappa-B kinase subunit alpha + + + gene with protein product + + + + HGNC + 1974 + + + OMIM + 600664 + + + Genatlas + CHUK + + + SwissProt + O15111 + + + Reactome + O15111 + + + Ensembl + ENSG00000213341 + + + IUPHAR + 1989 + + + ClinVar + CHUK + + + + + 10q24.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 466026 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466026 + Class I glucose-6-phosphate dehydrogenase deficiency + + Disease + + + Disorder + + + + 7577654[PMID] + + glucose-6-phosphate dehydrogenase + G6PD + + G6PD1 + + + gene with protein product + + + + ClinVar + G6PD + + + Ensembl + ENSG00000160211 + + + Genatlas + G6PD + + + HGNC + 4057 + + + OMIM + 305900 + + + Reactome + P11413 + + + SwissProt + P11413 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 468620 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468620 + Intellectual disability-epilepsy-extrapyramidal syndrome + + Disease + + + Disorder + + + + 26048982[PMID] + + DEAF1 transcription factor + DEAF1 + + NUDR + SPN + ZMYND5 + + + gene with protein product + + + + ClinVar + DEAF1 + + + Ensembl + ENSG00000177030 + + + Genatlas + DEAF1 + + + HGNC + 14677 + + + OMIM + 602635 + + + SwissProt + O75398 + + + Reactome + O75398 + + + + + 11p15.5 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 468631 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468631 + Microcephalic cortical malformations-short stature due to RTTN deficiency + + Malformation syndrome + + + Disorder + + + + 26608784[PMID] + + rotatin + RTTN + + DKFZP434G145 + + + gene with protein product + + + + ClinVar + RTTN + + + Ensembl + ENSG00000176225 + + + Genatlas + RTTN + + + HGNC + 18654 + + + OMIM + 610436 + + + SwissProt + Q86VV8 + + + + + 18q22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 467166 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467166 + Tubulinopathy-associated dysgyria + + Disease + + + Disorder + + + + 26130693[PMID] + + tubulin alpha 1a + TUBA1A + + B-ALPHA-1 + FLJ25113 + TUBA3 + Tubulin, alpha, brain-specific + tubulin, alpha, brain-specific + + + gene with protein product + + + + ClinVar + TUBA1A + + + Ensembl + ENSG00000167552 + + + Genatlas + TUBA1A + + + HGNC + 20766 + + + IUPHAR + 2638 + + + OMIM + 602529 + + + Reactome + Q71U36 + + + SwissProt + Q71U36 + + + + + 12q13.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26130693[PMID] + + tubulin beta 2B class IIb + TUBB2B + + DKFZp566F223 + MGC8685 + bA506K6.1 + class IIb beta-tubulin + + + gene with protein product + + + + Ensembl + ENSG00000137285 + + + Genatlas + TUBB2B + + + HGNC + 30829 + + + OMIM + 612850 + + + Reactome + Q9BVA1 + + + SwissProt + Q9BVA1 + + + ClinVar + TUBB2B + + + + + 6p25.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26130693[PMID] + + tubulin beta 3 class III + TUBB3 + + CFEOM3 + CFEOM3A + beta-4 + class III beta-tubulin + + + gene with protein product + + + + Ensembl + ENSG00000258947 + + + Genatlas + TUBB3 + + + HGNC + 20772 + + + IUPHAR + 2752 + + + OMIM + 602661 + + + Reactome + Q13509 + + + SwissProt + Q13509 + + + ClinVar + TUBB3 + + + + + 16q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 467176 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467176 + Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome + + Disease + + + Disorder + + + + 26358778[PMID] + + coiled-coil domain containing 174 + CCDC174 + + ctr1 + FLJ33839 + + + gene with protein product + + + + HGNC + 28033 + + + Reactome + Q6PII3 + + + OMIM + 616735 + + + SwissProt + Q6PII3 + + + ClinVar + C3orf19 + + + Ensembl + ENSG00000154781 + + + Genatlas + C3orf19 + + + + + 3p25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 468635 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468635 + Cryptogenic multifocal ulcerous stenosing enteritis + + Disease + + + Disorder + + + + 23268370[PMID] + + phospholipase A2 group IVA + PLA2G4A + + cPLA2-alpha + + + gene with protein product + + + + ClinVar + PLA2G4A + + + Reactome + P47712 + + + Ensembl + ENSG00000116711 + + + IUPHAR + 1424 + + + HGNC + 9035 + + + OMIM + 600522 + + + Genatlas + PLA2G4A + + + SwissProt + P47712 + + + + + 1q31.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 468641 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468641 + Chronic enteropathy associated with SLCO2A1 gene + + Disease + + + Disorder + + + + 26539716[PMID] + + solute carrier organic anion transporter family member 2A1 + SLCO2A1 + + prostaglandin transporter + OATP2A1 + PGT + + + gene with protein product + + + + IUPHAR + 1223 + + + Ensembl + ENSG00000174640 + + + Genatlas + SLCO2A1 + + + HGNC + 10955 + + + OMIM + 601460 + + + Reactome + Q92959 + + + SwissProt + Q92959 + + + ClinVar + SLCO2A1 + + + + + 3q22.1-q22.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 468661 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468661 + Autosomal recessive spastic paraplegia type 74 + + Disease + + + Disorder + + + + 25609768[PMID] + + iron-sulfur cluster assembly factor IBA57 + IBA57 + + FLJ12734 + iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa + + + gene with protein product + + + + Ensembl + ENSG00000181873 + + + Genatlas + IBA57 + + + HGNC + 27302 + + + OMIM + 615316 + + + SwissProt + Q5T440 + + + ClinVar + IBA57 + + + + + 1q42.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 468666 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468666 + Isolated generalized anhidrosis with normal sweat glands + + Disease + + + Disorder + + + + 25329695[PMID] + + inositol 1,4,5-trisphosphate receptor type 2 + ITPR2 + + CFAP48 + cilia and flagella associated protein 48 + IP3R2 + + + gene with protein product + + + + HGNC + 6181 + + + OMIM + 600144 + + + Genatlas + ITPR2 + + + SwissProt + Q14571 + + + Reactome + Q14571 + + + Ensembl + ENSG00000123104 + + + IUPHAR + 744 + + + ClinVar + ITPR2 + + + + + 12p11.23 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 468678 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468678 + White-Sutton syndrome + + Disease + + + Disorder + + + + 26739615[PMID] + + pogo transposable element derived with ZNF domain + POGZ + + ZNF635m + KIAA0461 + ZNF280E + putative protein product of Nbla00003 + zinc finger protein 280E + ZNF635 + + + gene with protein product + + + + Reactome + Q7Z3K3 + + + SwissProt + Q7Z3K3 + + + OMIM + 614787 + + + ClinVar + POGZ + + + HGNC + 18801 + + + Ensembl + ENSG00000143442 + + + Genatlas + POGZ + + + + + 1q21.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 468684 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468684 + CCDC115-CDG + + Disease + + + Disorder + + + + 26833332[PMID] + + vacuolar ATPase assembly factor VMA22 + VMA22 + + ccp1 + FLJ30131 + MGC12981 + + + gene with protein product + + + + HGNC + 28178 + + + Genatlas + CCDC115 + + + OMIM + 613734 + + + ClinVar + CCDC115 + + + SwissProt + Q96NT0 + + + Ensembl + ENSG00000136710 + + + + + 2q21.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 468672 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468672 + Colobomatous macrophthalmia-microcornea syndrome + + Disease + + + Disorder + + + + 25561690[PMID] + + cysteine rich transmembrane BMP regulator 1 + CRIM1 + + + + gene with protein product + + + + Genatlas + CRIM1 + + + SwissProt + Q9NZV1 + + + Ensembl + ENSG00000150938 + + + HGNC + 2359 + + + ClinVar + CRIM1 + + + OMIM + 606189 + + + + + 2p22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 468726 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468726 + Severe primary trimethylaminuria + + Disease + + + Disorder + + + + 20301282[PMID]_19321370[PMID] + + flavin containing dimethylaniline monoxygenase 3 + FMO3 + + FMOII + Dimethylaniline monooxygenase [N-oxide-forming] 3 + + + gene with protein product + + + + Ensembl + ENSG00000007933 + + + Genatlas + FMO3 + + + HGNC + 3771 + + + OMIM + 136132 + + + Reactome + P31513 + + + SwissProt + P31513 + + + ClinVar + FMO3 + + + + + 1q24.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 468699 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468699 + SLC39A8-CDG + + Disease + + + Disorder + + + + 26637978[PMID]_26637979[PMID] + + solute carrier family 39 member 8 + SLC39A8 + + BIGM103 + Metal cation symporter ZIP8 + ZIP8 + BCG-induced integral membrane protein in monocyte clone 103 + ZRT/IRT-like protein 8 + Zinc transporter ZIP8 + ZIP-8 + + + gene with protein product + + + + HGNC + 20862 + + + OMIM + 608732 + + + Genatlas + SLC39A8 + + + SwissProt + Q9C0K1 + + + ClinVar + SLC39A8 + + + Reactome + Q9C0K1 + + + Ensembl + ENSG00000138821 + + + IUPHAR + 1187 + + + + + 4q24 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 468717 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468717 + Rhizomelic chondrodysplasia punctata type 5 + + Etiological subtype + + + Subtype of disorder + + + + 26220973[PMID] + + peroxisomal biogenesis factor 5 + PEX5 + + peroxisomal import receptor 5 + peroxisomal targeting signal 1 receptor + PTS1R + + + gene with protein product + + + + Reactome + P50542 + + + Ensembl + ENSG00000139197 + + + Genatlas + PEX5 + + + HGNC + 9719 + + + OMIM + 600414 + + + SwissProt + P50542 + + + ClinVar + PEX5 + + + + + 12p13.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 401785 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401785 + Autosomal recessive spastic paraplegia type 62 + + Disease + + + Disorder + + + + 24482476[PMID] + + ER lipid raft associated 1 + ERLIN1 + + Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9 + Erlin-1 + KE04 + SPG62 + + + gene with protein product + + + + Reactome + O75477 + + + OMIM + 611604 + + + SwissProt + O75477 + + + Ensembl + ENSG00000107566 + + + Genatlas + ERLIN1 + + + HGNC + 16947 + + + ClinVar + ERLIN1 + + + + + 10q24.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 401780 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401780 + Autosomal recessive spastic paraplegia type 61 + + Disease 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COUP-TFI + EAR-3 + SVP44 + TCFCOUP1 + + + gene with protein product + + + + Ensembl + ENSG00000175745 + + + Genatlas + NR2F1 + + + HGNC + 7975 + + + IUPHAR + 617 + + + OMIM + 132890 + + + Reactome + P10589 + + + SwissProt + P10589 + + + ClinVar + NR2F1 + + + + + 5q15 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 401830 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401830 + Autosomal recessive spastic paraplegia type 69 + + Disease + + + Disorder + + + + 24482476[PMID] + + RAB3 GTPase activating non-catalytic protein subunit 2 + RAB3GAP2 + + DKFZP434D245 + KIAA0839 + RAB3-GAP150 + SPG69 + + + gene with protein product + + + + Reactome + Q9H2M9 + + + ClinVar + RAB3GAP2 + + + Ensembl + ENSG00000118873 + + + Genatlas + RAB3GAP2 + + + HGNC + 17168 + + + OMIM + 609275 + + + SwissProt + Q9H2M9 + + + + + 1q41 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 401835 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401835 + Autosomal recessive spastic paraplegia type 70 + + Disease + + + Disorder + + + + 24482476[PMID] + + methionyl-tRNA synthetase 1 + MARS1 + + CMT2U + MetRS + SPG70 + methionine tRNA ligase 1, cytoplasmic + Methionine--tRNA ligase, cytoplasmic + + + gene with protein product + + + + ClinVar + MARS + + + HGNC + 6898 + + + OMIM + 156560 + + + Reactome + P56192 + + + SwissProt + P56192 + + + Ensembl + ENSG00000166986 + + + Genatlas + MARS + + + + + 12q13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 401840 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401840 + Autosomal recessive spastic paraplegia type 71 + + Disease + + + Disorder + + + + 24482476[PMID] + + zinc finger RNA binding protein + ZFR + + SPG71 + ZFR1 + + + gene with protein product + + + + Ensembl + ENSG00000056097 + + + Genatlas + ZFR + + + HGNC + 17277 + + + OMIM + 615635 + + + SwissProt + Q96KR1 + + + ClinVar + ZFR + + + + + 5p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 401805 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401805 + Autosomal recessive spastic paraplegia type 63 + + Disease + + + Disorder + + + + 24482476[PMID] + + adenosine monophosphate deaminase 2 + AMPD2 + + AMPD isoform L + SPG63 + + + gene with protein product + + + + Ensembl + ENSG00000116337 + + + Genatlas + AMPD2 + + + HGNC + 469 + + + OMIM + 102771 + + + Reactome + Q01433 + + + SwissProt + Q01433 + + + ClinVar + AMPD2 + + + + + 1p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 401810 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401810 + Autosomal recessive spastic paraplegia type 64 + + Disease + + + Disorder + + + + 24482476[PMID] + + ectonucleoside triphosphate diphosphohydrolase 1 + ENTPD1 + + ATPDase + NTPDase-1 + SPG64 + + + gene with protein product + + + + Reactome + P49961 + + + Ensembl 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deacylase 1 + PGAP1 + + Bst1 + FLJ12377 + GPI inositol-deacylase + SPG67 + + + gene with protein product + + + + Ensembl + ENSG00000197121 + + + Genatlas + PGAP1 + + + HGNC + 25712 + + + OMIM + 611655 + + + Reactome + Q75T13 + + + SwissProt + Q75T13 + + + ClinVar + PGAP1 + + + + + 2q33.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 401866 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401866 + Childhood-onset spasticity with hyperglycinemia + + Disease + + + Disorder + + + + 24334290[PMID]_24777537[PMID] + + glutaredoxin 5 + GLRX5 + + GRX5 + PR01238 + + + gene with protein product + + + + Reactome + Q86SX6 + + + Ensembl + ENSG00000182512 + + + Genatlas + GLRX5 + + + HGNC + 20134 + + + OMIM + 609588 + + + SwissProt + Q86SX6 + + + ClinVar + GLRX5 + + + + + 14q32.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 401869 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401869 + Multiple 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401849 + Autosomal spastic paraplegia type 72 + + Disease + + + Disorder + + + + 24388663[PMID] + + receptor accessory protein 2 + REEP2 + + SGC32445 + SPG72 + Yip2d + + + gene with protein product + + + + Ensembl + ENSG00000132563 + + + Genatlas + REEP2 + + + HGNC + 17975 + + + OMIM + 609347 + + + SwissProt + Q9BRK0 + + + Reactome + Q9BRK0 + + + ClinVar + REEP2 + + + + + 5q31.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 401859 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401859 + Lipoic acid synthetase deficiency + + Disease + + + Disorder + + + + 24334290[PMID]_24777537[PMID] + + lipoic acid synthetase + LIAS + + LAS + Lipoyl synthase, mitochondrial + + + gene with protein product + + + + Ensembl + ENSG00000121897 + + + Genatlas + LIAS + + + HGNC + 16429 + + + OMIM + 607031 + + + Reactome + O43766 + + + SwissProt + O43766 + + + ClinVar + LIAS + + + + 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alpha 7 + KPNA7 + + IPOA8 + importin alpha 8 + + + gene with protein product + + + + Ensembl + ENSG00000185467 + + + HGNC + 21839 + + + OMIM + 614107 + + + Reactome + A9QM74 + + + SwissProt + A9QM74 + + + + + 7q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 401948 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401948 + Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency + + Disease + + + Disorder + + + + 24530203[PMID] + + carbonic anhydrase 5A + CA5A + + CAV + CAVA + + + gene with protein product + + + + ClinVar + CA5A + + + OMIM + 114761 + + + Reactome + P35218 + + + SwissProt + P35218 + + + Ensembl + ENSG00000174990 + + + Genatlas + CA5A + + + HGNC + 1377 + + + IUPHAR + 3093 + + + + + 16q24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 401945 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401945 + Moyamoya disease with early-onset achalasia + + Disease + + + Disorder + + + + 24581742[PMID] + + guanylate cyclase 1 soluble subunit alpha 1 + GUCY1A1 + + GC-SA3 + + + gene with protein product + + + + Ensembl + ENSG00000164116 + + + Genatlas + GUCY1A3 + + + HGNC + 4685 + + + OMIM + 139396 + + + Reactome + Q02108 + + + SwissProt + Q02108 + + + IUPHAR + 1288 + + + ClinVar + GUCY1A3 + + + + + 4q32.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 401986 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401986 + 1p31p32 microdeletion syndrome + + Malformation syndrome + + + Disorder + + + + 24462883[PMID] + + nuclear factor I A + NFIA + + KIAA1439 + NFI-L + + + gene with protein product + + + + Ensembl + ENSG00000162599 + + + Genatlas + NFIA + + + HGNC + 7784 + + + OMIM + 600727 + + + Reactome + Q12857 + + + SwissProt + Q12857 + + + ClinVar + NFIA + + + + + 1p31.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 401979 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401979 + Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type + + Malformation syndrome + + + Disorder + + + + 24786642[PMID] + + presequence translocase associated motor 16 + PAM16 + + Magmas + TIMM16 + Tim16 + mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction + + + gene with protein product + + + + ClinVar + MAGMAS + + + Ensembl + ENSG00000217930 + + + Genatlas + MAGMAS + + + HGNC + 29679 + + + OMIM + 614336 + + + Reactome + Q9Y3D7 + + + SwissProt + Q9Y3D7 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 401973 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401973 + MEND syndrome + + Malformation syndrome + + + Disorder + + + + 24459067[PMID] + + EBP cholestenol delta-isomerase + EBP + + CHO2 + CPX + CPXD + Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome) + sterol 8-isomerase + 3-beta-hydroxysteroid-delta-8,delta-7-isomerase + + + gene with protein product + + + + SwissProt + Q15125 + + + Ensembl + ENSG00000147155 + + + Genatlas + EBP + + + HGNC + 3133 + + + OMIM + 300205 + + + Reactome + Q15125 + + + ClinVar + EBP + + + + + Xp11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 401964 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401964 + Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons + + Disease + + + Disorder + + + + 24500646[PMID] + + DDB1 and CUL4 associated factor 8 + DCAF8 + + FLJ35857 + H326 + + + gene with protein product + + + + Ensembl + ENSG00000132716 + + + HGNC + 24891 + + + OMIM + 615820 + + + SwissProt + Q5TAQ9 + + + Reactome + Q5TAQ9 + + + + + 1q23.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 402003 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402003 + Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering + + Disease + + + Disorder + + + + 21801157[PMID]_19609311[PMID] + + keratin 6C + KRT6C + + + + gene with protein product + + + + Reactome + P48668 + + + ClinVar + KRT6C + + + Ensembl + ENSG00000170465 + + + Genatlas + KRT6C + + + HGNC + 20406 + + + OMIM + 612315 + + + SwissProt + P48668 + + + + + 12q13.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 401996 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401996 + Karyomegalic interstitial nephritis + + Disease + + + Disorder + + + + 22772369[PMID] + + FANCD2 and FANCI associated nuclease 1 + FAN1 + + + + gene with protein product + + + + ClinVar + FAN1 + + + Ensembl + ENSG00000198690 + + + Genatlas + FAN1 + + + HGNC + 29170 + + + OMIM + 613534 + + + Reactome + Q9Y2M0 + + + SwissProt + Q9Y2M0 + + + + + 15q13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 402017 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402017 + Acute myeloid leukemia with t(9;11)(p22;q23) + + Disease + + + Disorder + + + + 19357394[PMID] + + lysine methyltransferase 2A + KMT2A + + HTRX + ALL1 + ALL-1 + CXXC7 + HRX + HTRX1 + MLL1A + TRX1 + MLL1 + Histone-lysine N-methyltransferase 2A + + + gene with protein product + + + + ClinVar + KMT2A + + + IUPHAR + 2688 + + + Ensembl + ENSG00000118058 + + + Genatlas + KMT2A + + + HGNC + 7132 + + + OMIM + 159555 + + + Reactome + Q03164 + + + SwissProt + Q03164 + + + + + 11q23.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 19357394[PMID] + + MLLT3 super elongation complex subunit + MLLT3 + + AF-9 + AF9 + YEATS3 + + + gene with protein product + + + + Genatlas + MLLT3 + + + HGNC + 7136 + + + OMIM + 159558 + + + SwissProt + P42568 + + + Ensembl + ENSG00000171843 + + + Reactome + P42568 + + + ClinVar + MLLT3 + + + + + 9p21.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 402020 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402020 + Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) + + Disease + + + Disorder + + + + 19357394[PMID]_20556821[PMID] + + MDS1 and EVI1 complex locus + MECOM + + MDS1-EVI1 + PR domain 3 + PRDM3 + KMT8E + + + gene with protein product + + + + SwissProt + Q03112 + + + Ensembl + ENSG00000085276 + + + Genatlas + MECOM + + + HGNC + 3498 + + + OMIM + 165215 + + + Reactome + Q03112 + + + ClinVar + MECOM + + + + + 3q26.2 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 19357394[PMID]_20556821[PMID] + + ribophorin I + RPN1 + + OST1 + oligosaccharyltransferase 1 homolog (S. cerevisiae) + oligosaccharyltransferase complex subunit (non-catalytic) + + + gene with protein product + + + + Ensembl + ENSG00000163902 + + + Genatlas + RPN1 + + + HGNC + 10381 + + + OMIM + 180470 + + + Reactome + P04843 + + + SwissProt + P04843 + + + ClinVar + RPN1 + + + + + 3q21.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 402014 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402014 + Acute myeloid leukemia with t(6;9)(p23;q34) + + Disease + + + Disorder + + + + 19357394[PMID] + + nucleoporin 214 + NUP214 + + CAIN + CAN + CAN protein, putative oncogene + D9S46E + N214 + nuclear pore complex protein Nup214 + + + gene with protein product + + + + ClinVar + NUP214 + + + Ensembl + ENSG00000126883 + + + Genatlas + NUP214 + + + HGNC + 8064 + + + OMIM + 114350 + + + Reactome + P35658 + + + SwissProt + P35658 + + + + + 9q34.13 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 19357394[PMID] + + DEK proto-oncogene + DEK + + D6S231E + + + gene with protein product + + + + ClinVar + DEK + + + Ensembl + ENSG00000124795 + + + Genatlas + DEK + + + HGNC + 2768 + + + OMIM + 125264 + + + Reactome + P35659 + + + SwissProt + P35659 + + + + + 6p22.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 402023 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402023 + Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) + + Disease + + + Disorder + + + + 19357394[PMID] + + RNA binding motif protein 15 + RBM15 + + one twenty-two + OTT + OTT1 + + + gene with protein product + + + + Ensembl + ENSG00000162775 + + + Genatlas + RBM15 + + + HGNC + 14959 + + + OMIM + 606077 + + + SwissProt + Q96T37 + + + ClinVar + RBM15 + + + + + 1p13.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 19357394[PMID] + + myocardin related transcription factor A + MRTFA + + MKL + BSAC + KIAA1438 + MAL + MRTF-A + basic, SAP and coiled-coil domain + megakaryocytic acute leukemia + myocardin-related transcription factor A + + + gene with protein product + + + + Ensembl + ENSG00000196588 + + + Genatlas + MKL1 + + + HGNC + 14334 + + + OMIM + 606078 + + + Reactome + Q969V6 + + + SwissProt + Q969V6 + + + ClinVar + MKL1 + + + + + 22q13.1-q13.2 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 402026 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402026 + Acute myeloid leukemia with NPM1 somatic mutations + + Disease + + + Disorder + + + + 19357394[PMID]_23301224[PMID] + + nucleophosmin 1 + NPM1 + + B23 + NPM + Nucleophosmin/nucleoplasmin family, member 1 + Numatrin + nucleolar phosphoprotein B23 + numatrin + nucleophosmin/nucleoplasmin family, member 1 + + + gene with protein product + + + + Ensembl + ENSG00000181163 + + + Genatlas + NPM1 + + + HGNC + 7910 + + + OMIM + 164040 + + + Reactome + P06748 + + + SwissProt + P06748 + + + ClinVar + NPM1 + + + + + 5q35.1 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 402082 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402082 + Progressive myoclonic epilepsy type 5 + + Disease + + + Disorder + + + + 21276947[PMID]_26942291[PMID] + + prickle planar cell polarity protein 2 + PRICKLE2 + + DKFZp686D143 + + + gene with protein product + + + + Ensembl + ENSG00000163637 + + + Genatlas + PRICKLE2 + + + HGNC + 20340 + + + OMIM + 608501 + + + SwissProt + Q7Z3G6 + + + ClinVar + PRICKLE2 + + + + + 3p14.1 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 26942291[PMID] + + DNA polymerase gamma, catalytic subunit + POLG + + POLG1 + POLGA + + + gene with protein product + + + + IUPHAR + 3310 + + + Ensembl + ENSG00000140521 + + + Genatlas + POLG + + + HGNC + 9179 + + + OMIM + 174763 + + + SwissProt + P54098 + + + Reactome + P54098 + + + ClinVar + POLG + + + + + 15q26.1 + 1 + + + + + Candidate gene tested in + + + Assessed + + + + + + 402364 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402364 + Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly + + Malformation syndrome + + + Disorder + + + + 20950787[PMID] + + mediator complex subunit 17 + MED17 + + SRB4 + CRSP77 + DRIP80 + TRAP80 + + + gene with protein product + + + + Ensembl + ENSG00000042429 + + + Genatlas + MED17 + + + HGNC + 2375 + + + OMIM + 603810 + + + Reactome + Q9NVC6 + + + SwissProt + Q9NVC6 + + + ClinVar + MED17 + + + + + 11q21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 402041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402041 + Autosomal recessive distal renal tubular acidosis + + Clinical subtype + + + Subtype of disorder + + + + 29242249[PMID] + + forkhead box I1 + FOXI1 + + FREAC6 + + + gene with protein product + + + + Ensembl + ENSG00000168269 + + + Genatlas + FOXI1 + + + HGNC + 3815 + + + OMIM + 601093 + + + SwissProt + Q12951 + + + ClinVar + FOXI1 + + + + + 5q35.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23729491[PMID] + + ATPase H+ transporting V0 subunit a4 + ATP6V0A4 + + RDRTA2 + RTADR + Stv1 + VPP2 + Vph1 + a4 + V-ATPase subunit a4 + vacuolar proton pump subunit 2 + + + gene with protein product + + + + Ensembl + ENSG00000105929 + + + Genatlas + ATP6V0A4 + + + HGNC + 866 + + + OMIM + 605239 + + + Reactome + Q9HBG4 + + + SwissProt + Q9HBG4 + + + IUPHAR + 826 + + + ClinVar + ATP6V0A4 + + + + + 7q34 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23729491[PMID] + + ATPase H+ transporting V1 subunit B1 + ATP6V1B1 + + RTA1B + Renal tubular acidosis with deafness + VATB + Vma2 + V-ATPase subunit B1 + + + gene with protein product + + + + Ensembl + ENSG00000116039 + + + IUPHAR + 811 + + + Genatlas + ATP6V1B1 + + + HGNC + 853 + + + OMIM + 192132 + + + Reactome + P15313 + + + SwissProt + P15313 + + + ClinVar + ATP6V1B1 + + + + + 2p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 30028003[PMID] + + WD repeat domain 72 + WDR72 + + FLJ38736 + + + gene with protein product + + + + ClinVar + WDR72 + + + HGNC + 26790 + + + OMIM + 613214 + + + SwissProt + Q3MJ13 + + + Ensembl + ENSG00000166415 + + + Genatlas + WDR72 + + + + + 15q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 402075 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402075 + Familial bicuspid aortic valve + + Morphological anomaly + + + Disorder + + + + 25438918[PMID] + + NK2 homeobox 5 + NKX2-5 + + tinman paralog (Drosophila) + CSX1 + NKX2.5 + NKX4-1 + tinman (Drosophila) homolog + + + gene with protein product + + + + Reactome + P52952 + + + SwissProt + P52952 + + + Ensembl + ENSG00000183072 + + + Genatlas + NKX2-5 + + + HGNC + 2488 + + + OMIM + 600584 + + + ClinVar + NKX2-5 + + + + + 5q35.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 24638895[PMID] + + GATA binding protein 5 + GATA5 + + GATAS + bB379O24.1 + + + gene with protein product + + + + HGNC + 15802 + + + OMIM + 611496 + + + Reactome + Q9BWX5 + + + SwissProt + Q9BWX5 + + + Ensembl + ENSG00000130700 + + + Genatlas + GATA5 + + + ClinVar + GATA5 + + + + + 20q13.33 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 30455415[PMID] + + roundabout guidance receptor 4 + ROBO4 + + ECSM4 + FLJ20798 + magic roundabout + MRB + + + gene with protein product + + + + HGNC + 17985 + + + Ensembl + ENSG00000154133 + + + OMIM + 607528 + + + SwissProt + Q8WZ75 + + + + + 11q24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 16025100[PMID] + + notch receptor 1 + NOTCH1 + + + + gene with protein product + + + + Ensembl + ENSG00000148400 + + + Genatlas + NOTCH1 + + + HGNC + 7881 + + + OMIM + 190198 + + + Reactome + P46531 + + + SwissProt + P46531 + + + IUPHAR + 2861 + + + ClinVar + NOTCH1 + + + + + 9q34.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22275001[PMID] + + SMAD family member 6 + SMAD6 + + HsT17432 + + + gene with protein product + + + + Ensembl + ENSG00000137834 + + + Genatlas + SMAD6 + + + HGNC + 6772 + + + OMIM + 602931 + + + Reactome + O43541 + + + SwissProt + O43541 + + + ClinVar + SMAD6 + + + + + 15q22.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 806 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=806 + Scott syndrome + + Disease + + + Disorder + + + + 21107324[PMID]_21511967[PMID] + + anoctamin 6 + ANO6 + + DKFZp313M0720 + + + gene with protein product + + + + Ensembl + ENSG00000177119 + + + Genatlas + ANO6 + + + HGNC + 25240 + + + OMIM + 608663 + + + Reactome + Q4KMQ2 + + + SwissProt + Q4KMQ2 + + + ClinVar + ANO6 + + + + + 12q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 404473 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404473 + Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome + + Malformation syndrome + + + Disorder + + + + 24614104[PMID] + + catenin beta 1 + CTNNB1 + + armadillo + beta-catenin + + + gene with protein product + + + + ClinVar + CTNNB1 + + + Ensembl + ENSG00000168036 + + + Genatlas + CTNNB1 + + + HGNC + 2514 + + + OMIM + 116806 + + + Reactome + P35222 + + + SwissProt + P35222 + + + + + 3p22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 404463 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404463 + Multisystemic smooth muscle dysfunction syndrome + + Disease + + + Disorder + + + + 20734336[PMID] + + actin alpha 2, smooth muscle + ACTA2 + + ACTSA + + + gene with protein product + + + + ClinVar + ACTA2 + + + Ensembl + ENSG00000107796 + + + Genatlas + ACTA2 + + + HGNC + 130 + + + OMIM + 102620 + + + Reactome + P62736 + + + SwissProt + P62736 + + + + + 10q23.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 404466 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404466 + Female infertility due to zona pellucida defect + + Disease + + + Disorder + + + + 28646452[PMID] + + zona pellucida glycoprotein 2 + ZP2 + + zona pellucida 2 + ZPA + + + gene with protein product + + + + ClinVar + ZP2 + + + HGNC + 13188 + + + Ensembl + ENSG00000103310 + + + SwissProt + Q05996 + + + OMIM + 182888 + + + Genatlas + ZP2 + + + Reactome + Q05996 + + + + + 16p12.3-p12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 28886340[PMID] + + zona pellucida glycoprotein 3 + ZP3 + + ZP3-372 + ZP3-424 + ZPC + + + gene with protein product + + + + HGNC + 13189 + + + Ensembl + ENSG00000188372 + + + SwissProt + P21754 + + + OMIM + 182889 + + + Genatlas + ZP3 + + + Reactome + P21754 + + + ClinVar + ZP3 + + + + + 7q11.23 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 24670168[PMID] + + zona pellucida glycoprotein 1 + ZP1 + + ZPB1 + + + gene with protein product + + + + ClinVar + ZP1 + + + Ensembl + ENSG00000149506 + + + Genatlas + ZP1 + + + HGNC + 13187 + + + OMIM + 195000 + + + Reactome + P60852 + + + SwissProt + P60852 + + + + + 11q12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 404451 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404451 + FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome + + Malformation syndrome + + + Disorder + + + + 24084572[PMID] + + fibulin 1 + FBLN1 + + FBLN + + + gene with protein product + + + + Genatlas + FBLN1 + + + HGNC + 3600 + + + OMIM + 135820 + + + Reactome + P23142 + + + SwissProt + P23142 + + + Ensembl + ENSG00000077942 + + + ClinVar + FBLN1 + + + + + 22q13.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 404454 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404454 + Alacrimia-choreoathetosis-liver dysfunction syndrome + + Disease + + + Disorder + + + + 24651605[PMID] + + N-glycanase 1 + NGLY1 + + FLJ11005 + PNG1 + peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase + peptide:N-glycanase + PNG-1 + + + gene with protein product + + + + Reactome + Q96IV0 + + + ClinVar + NGLY1 + + + Ensembl + ENSG00000151092 + + + Genatlas + NGLY1 + + + HGNC + 17646 + + + OMIM + 610661 + + + SwissProt + Q96IV0 + + + + + 3p24.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 404443 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404443 + Tatton-Brown-Rahman syndrome + + Malformation syndrome + + + Disorder + + + + 24614070[PMID]_27701732[PMID] + + DNA methyltransferase 3 alpha + DNMT3A + + + + gene with protein product + + + + ClinVar + DNMT3A + + + Ensembl + ENSG00000119772 + + + Genatlas + DNMT3A + + + HGNC + 2978 + + + IUPHAR + 2750 + + + OMIM + 602769 + + + Reactome + Q9Y6K1 + + + SwissProt + Q9Y6K1 + + + + + 2p23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 404448 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404448 + Helsmoortel-Van der Aa syndrome + + Malformation syndrome + + + Disorder + + + + 24531329[PMID] + + activity dependent neuroprotector homeobox + ADNP + + ADNP homeobox 1 + ADNP1 + KIAA0784 + activity-dependent neuroprotective protein + + + gene with protein product + + + + Reactome + Q9H2P0 + + + ClinVar + ADNP + + + Ensembl + ENSG00000101126 + + + Genatlas + ADNP + + + HGNC + 15766 + + + OMIM + 611386 + + + SwissProt + Q9H2P0 + + + + + 20q13.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 404437 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404437 + Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome + + Malformation syndrome + + + Disorder + + + + 24656866[PMID] + + glutaminyl-tRNA synthetase 1 + QARS1 + + glutamine tRNA ligase + + + gene with protein product + + + + ClinVar + QARS + + + Ensembl + ENSG00000172053 + + + Genatlas + QARS + + + HGNC + 9751 + + + OMIM + 603727 + + + Reactome + P47897 + + + SwissProt + P47897 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 404560 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404560 + Familial atypical multiple mole melanoma syndrome + + Disease + + + Disorder + + + + 21249757[PMID] + + cyclin dependent kinase inhibitor 2A + CDKN2A + + ARF + CDK4I + CMM2 + INK4 + INK4a + MTS1 + p14 + p14ARF + p16 + p16INK4a + p19 + p19Arf + inhibitor of cdk4 A + P16-INK4A + CDKN2A/ARF Intron 2 lncRNA + multiple tumour suppressor 1 + cyclin-dependent kinase 4 inhibitor A + p14 alternate open reading frame + p19 alternate open reading frame + CAI2 + + + gene with protein product + + + + Ensembl + ENSG00000147889 + + + Genatlas + CDKN2A + + + HGNC + 1787 + + + OMIM + 600160 + + + Reactome + P42771 + + + SwissProt + P42771 + + + ClinVar + CDKN2A + + + + + 9p21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 404553 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404553 + Deficiency of adenosine deaminase 2 + + Disease + + + Disorder + + + + 24552284[PMID]_24552285[PMID] + + adenosine deaminase 2 + ADA2 + + ADGF + + + gene with protein product + + + + Ensembl + ENSG00000093072 + + + Genatlas + CECR1 + + + HGNC + 1839 + + + OMIM + 607575 + + + Reactome + Q9NZK5 + + + SwissProt + Q9NZK5 + + + ClinVar + ADA2 + + + + + 22q11.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 404546 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404546 + DITRA + + Disease + + + Disorder + + + + 24131530[PMID] + + interleukin 36 receptor antagonist + IL36RN + + FIL1 + FIL1(DELTA) + FIL1D + IL-1 related protein 3 + IL-1F5 + IL1HY1 + IL1L1 + IL1RP3 + IL36RA + MGC29840 + family of interleukin 1-delta + interleukin-1 HY1 + interleukin-1 receptor antagonist homolog 1 + + + gene with protein product + + + + ClinVar + IL36RN + + + Ensembl + ENSG00000136695 + + + Genatlas + IL36RN + + + HGNC + 15561 + + + OMIM + 605507 + + + SwissProt + Q9UBH0 + + + Reactome + Q9UBH0 + + + + + 2q14.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 404521 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404521 + Spinal muscular atrophy with respiratory distress type 2 + + Disease + + + Disorder + + + + 24647030[PMID] + + LAS1 like ribosome biogenesis factor + LAS1L + + FLJ12525 + Las1 + + + gene with protein product + + + + Ensembl + ENSG00000001497 + + + Genatlas + LAS1L + + + HGNC + 25726 + + + OMIM + 300964 + + + SwissProt + Q9Y4W2 + + + Reactome + Q9Y4W2 + + + ClinVar + LAS1L + + + + + Xq12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 404511 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404511 + Clear cell papillary renal cell carcinoma + + Histopathological subtype + + + Subtype of disorder + + + + 8620471[PMID]_15649945[PMID] + + HNF1 homeobox A + HNF1A + + HNF1 + LFB1 + HNF1a + HNF1α + + + gene with protein product + + + + ClinVar + HNF1A + + + Genatlas + HNF1A + + + HGNC + 11621 + + + OMIM + 142410 + + + Reactome + P20823 + + + SwissProt + P20823 + + + Ensembl + ENSG00000135100 + + + + + 12q24.31 + 1 + + + + + Biomarker tested in + + + Not yet assessed + + + + 24334765[PMID] + + transmembrane protein 127 + TMEM127 + + FLJ20507 + FLJ22257 + + + gene with protein product + + + + Ensembl + ENSG00000135956 + + + Genatlas + TMEM127 + + + HGNC + 26038 + + + OMIM + 613403 + + + SwissProt + O75204 + + + ClinVar + TMEM127 + + + + + 2q11.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 22012259[PMID] + + melanocyte inducing transcription factor + MITF + + MI + bHLHe32 + homolog of mouse microphthalmia + + + gene with protein product + + + + Ensembl + ENSG00000187098 + + + Genatlas + MITF + + + HGNC + 7105 + + + OMIM + 156845 + + + Reactome + O75030 + + + SwissProt + O75030 + + + ClinVar + MITF + + + + + 3p13 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 25911086[PMID] + + polybromo 1 + PBRM1 + + BAF180 + PB1 + SMARCH1 + + + gene with protein product + + + + IUPHAR + 2738 + + + OMIM + 606083 + + + Reactome + Q86U86 + + + SwissProt + Q86U86 + + + Ensembl + ENSG00000163939 + + + Genatlas + PBRM1 + + + HGNC + 30064 + + + ClinVar + PBRM1 + + + + + 3p21.1 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 404507 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404507 + Chondromyxoid fibroma + + Disease + + + Disorder + + + + 24658000[PMID] + + glutamate metabotropic receptor 1 + GRM1 + + GPRC1A + MGLUR1 + PPP1R85 + mGlu1 + protein phosphatase 1, regulatory subunit 85 + + + gene with protein product + + + + Ensembl + ENSG00000152822 + + + Genatlas + GRM1 + + + HGNC + 4593 + + + IUPHAR + 289 + + + OMIM + 604473 + + + Reactome + Q13255 + + + SwissProt + Q13255 + + + ClinVar + GRM1 + + + + + 6q24.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 404499 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404499 + Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency + + Disease + + + Disorder + + + + 23728897[PMID] + + rubicon autophagy regulator + RUBCN + + rubicon + rundataxin + + + gene with protein product + + + + Reactome + Q92622 + + + SwissProt + Q92622 + + + Ensembl + ENSG00000145016 + + + HGNC + 28991 + + + OMIM + 613516 + + + Genatlas + RUBCN + + + ClinVar + RUBCN + + + + + 3q29 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 404493 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404493 + Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency + + Disease + + + Disorder + + + + 24658003[PMID] + + tyrosyl-DNA phosphodiesterase 2 + TDP2 + + + + gene with protein product + + + + ClinVar + TDP2 + + + Ensembl + ENSG00000111802 + + + Genatlas + TDP2 + + + HGNC + 17768 + + + OMIM + 605764 + + + Reactome + O95551 + + + SwissProt + O95551 + + + + + 6p22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 404476 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404476 + Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome + + Malformation syndrome + + + Disorder + + + + 24676357[PMID] + + dicer 1, ribonuclease III + DICER1 + + Dicer + HERNA + K12H4.8-LIKE + KIAA0928 + dicer 1, double-stranded RNA-specific endoribonuclease + + + gene with protein product + + + + ClinVar + DICER1 + + + Ensembl + ENSG00000100697 + + + Genatlas + DICER1 + + + HGNC + 17098 + + + OMIM + 606241 + + + Reactome + Q9UPY3 + + + SwissProt + Q9UPY3 + + + + + 14q32.13 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 411536 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411536 + Mild phosphoribosylpyrophosphate synthetase superactivity + + Clinical subtype + + + Subtype of disorder + + + + 20301734PMID] + + phosphoribosyl pyrophosphate synthetase 1 + PRPS1 + + PRS I + ribose-phosphate diphosphokinase 1 + CMTX5 + DFNX1 + PRS-I + PPRibP + + + gene with protein product + + + + ClinVar + PRPS1 + + + Ensembl + ENSG00000147224 + + + Genatlas + PRPS1 + + + HGNC + 9462 + + + OMIM + 311850 + + + Reactome + P60891 + + + SwissProt + P60891 + + + + + Xq22.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 411543 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411543 + Severe phosphoribosylpyrophosphate synthetase superactivity + + Clinical subtype + + + Subtype of disorder + + + + 20301734[PMID] + + phosphoribosyl pyrophosphate synthetase 1 + PRPS1 + + PRS I + ribose-phosphate diphosphokinase 1 + CMTX5 + DFNX1 + PRS-I + PPRibP + + + gene with protein product + + + + ClinVar + PRPS1 + + + Ensembl + ENSG00000147224 + + + Genatlas + PRPS1 + + + HGNC + 9462 + + + OMIM + 311850 + + + Reactome + P60891 + + + SwissProt + P60891 + + + + + Xq22.3 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 411590 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411590 + Wolfram-like syndrome + + Disease + + + Disorder + + + + 20069065[PMID]_20301750[PMID] + + wolframin ER transmembrane glycoprotein + WFS1 + + DIDMOAD + WFS + + + gene with protein product + + + + ClinVar + WFS1 + + + Ensembl + ENSG00000109501 + + + Genatlas + WFS1 + + + HGNC + 12762 + + + OMIM + 606201 + + + Reactome + O76024 + + + SwissProt + O76024 + + + + + 4p16.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 411602 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411602 + Hereditary late-onset Parkinson disease + + Disease + + + Disorder + + + + 17489854[PMID]_18704525[PMID]_20013014[PMID]_24768741[PMID]_17489854[PMID]_18704525[PMID] + + synuclein alpha + SNCA + + NACP + PD1 + alpha-synuclein + non A4 component of amyloid precursor + a-synuclein + + + gene with protein product + + + + IUPHAR + 3285 + + + ClinVar + SNCA + + + Ensembl + ENSG00000145335 + + + Genatlas + SNCA + + + HGNC + 11138 + + + OMIM + 163890 + + + Reactome + P37840 + + + SwissProt + P37840 + + + + + 4q22.1 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 18987351[PMID] + + glucosylceramidase beta 1 + GBA1 + + GBA1 + glucocerebrosidase + + + gene with protein product + + + + ClinVar + GBA + + + Ensembl + ENSG00000177628 + + + Genatlas + GBA + + + HGNC + 4177 + + + OMIM + 606463 + + + Reactome + P04062 + + + SwissProt + P04062 + + + IUPHAR + 2978 + + + + + 1q22 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 22166458[PMID] + + leucine rich repeat kinase 2 + LRRK2 + + dardarin + DKFZp434H2111 + FLJ45829 + RIPK7 + ROCO2 + + + gene with protein product + + + + ClinVar + LRRK2 + + + Reactome + Q5S007 + + + Ensembl + ENSG00000188906 + + + Genatlas + LRRK2 + + + HGNC + 18618 + + + IUPHAR + 2059 + + + OMIM + 609007 + + + SwissProt + Q5S007 + + + + + 12q12 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + eukaryotic translation initiation factor 4 gamma 1 + EIF4G1 + + PARK18 + p220 + + + gene with protein product + + + + ClinVar + EIF4G1 + + + Ensembl + ENSG00000114867 + + + Genatlas + EIF4G1 + + + HGNC + 3296 + + + OMIM + 600495 + + + Reactome + Q04637 + + + SwissProt + Q04637 + + + + + 3q27.1 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 22166458[PMID] + + VPS35 retromer complex component + VPS35 + + FLJ10752 + MEM3 + PARK17 + + + gene with protein product + + + + ClinVar + VPS35 + + + Ensembl + ENSG00000069329 + + + Genatlas + VPS35 + + + HGNC + 13487 + + + OMIM + 601501 + + + Reactome + Q96QK1 + + + SwissProt + Q96QK1 + + + + + 16q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24218364[PMID] + + DnaJ heat shock protein family (Hsp40) member C13 + DNAJC13 + + KIAA0678 + RME8 + + + gene with protein product + + + + Ensembl + ENSG00000138246 + + + Reactome + O75165 + + + ClinVar + DNAJC13 + + + Genatlas + DNAJC13 + + + HGNC + 30343 + + + OMIM + 614334 + + + SwissProt + O75165 + + + + + 3q22.1 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + GRB10 interacting GYF protein 2 + GIGYF2 + + GYF domain containing 2 + GYF2 + KIAA0642 + + + gene with protein product + + + + ClinVar + GIGYF2 + + + Ensembl + ENSG00000204120 + + + Genatlas + GIGYF2 + + + HGNC + 11960 + + + OMIM + 612003 + + + SwissProt + Q6Y7W6 + + + + + 2q37.1 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 411629 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411629 + Infantile nephropathic cystinosis + + Clinical subtype + + + Subtype of disorder + + + + 20301574[PMID] + + cystinosin, lysosomal cystine transporter + CTNS + + CTNS-LSB + PQLC4 + SLC66A4 + + + gene with protein product + + + + IUPHAR + 3163 + + + ClinVar + CTNS + + + Ensembl + ENSG00000040531 + + + Genatlas + CTNS + + + HGNC + 2518 + + + OMIM + 606272 + + + Reactome + O60931 + + + SwissProt + O60931 + + + + + 17p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 411493 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411493 + Pontocerebellar hypoplasia type 10 + + Malformation syndrome + + + Disorder + + + + 24766809[PMID]_24766810[PMID] + + cleavage factor polyribonucleotide kinase subunit 1 + CLP1 + + ATP/GTPbinding protein + HEAB + hClp1 + polyribonucleotide 5'-hydroxyl-kinase + + + gene with protein product + + + + ClinVar + CLP1 + + + Ensembl + ENSG00000172409 + + + Genatlas + CLP1 + + + HGNC + 16999 + + + OMIM + 608757 + + + Reactome + Q92989 + + + SwissProt + Q92989 + + + + + 11q12.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 411511 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411511 + Angelman syndrome due to a point mutation + + Etiological subtype + + + Subtype of disorder + + + + 22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID] + + ubiquitin protein ligase E3A + UBE3A + + ANCR + AS + Angelman syndrome + E6-AP + FLJ26981 + + + gene with protein product + + + + ClinVar + UBE3A + + + Ensembl + ENSG00000114062 + + + Genatlas + UBE3A + + + HGNC + 12496 + + + OMIM + 601623 + + + Reactome + Q05086 + + + SwissProt + Q05086 + + + + + 15q11.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 411515 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411515 + Angelman syndrome due to imprinting defect in 15q11-q13 + + Etiological subtype + + + Subtype of disorder + + + + 17347796[PMID]_22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID] + + small nuclear ribonucleoprotein polypeptide N + SNRPN + + HCERN3 + RT-LI + SM protein N + SM-D + SMN + SNRNP-N + SNURF-SNRPN + small nuclear ribonucleoprotein N + tissue-specific splicing protein + + + gene with protein product + + + + Reactome + P63162 + + + Ensembl + ENSG00000128739 + + + Genatlas + SNRPN + + + HGNC + 11164 + + + OMIM + 182279 + + + SwissProt + P63162 + + + ClinVar + SNRPN + + + + + 15q11.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 17347796[PMID]_22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID] + + ubiquitin protein ligase E3A + UBE3A + + ANCR + AS + Angelman syndrome + E6-AP + FLJ26981 + + + gene with protein product + + + + ClinVar + UBE3A + + + Ensembl + ENSG00000114062 + + + Genatlas + UBE3A + + + HGNC + 12496 + + + OMIM + 601623 + + + Reactome + Q05086 + + + SwissProt + Q05086 + + + + + 15q11.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 11326269[PMID]_17347796[PMID] + + ATPase phospholipid transporting 10A (putative) + ATP10A + + ATPVA + ATPVC + KIAA0566 + phospholipid-transporting ATPase VA + + + gene with protein product + + + + IUPHAR + 862 + + + ClinVar + ATP10A + + + Ensembl + ENSG00000206190 + + + Genatlas + ATP10A + + + HGNC + 13542 + + + OMIM + 605855 + + + Reactome + O60312 + + + SwissProt + O60312 + + + + + 15q12 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 411712 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411712 + Maternal riboflavin deficiency + + Disease + + + Disorder + + + + 17689999[PMID]_21089064[PMID] + + solute carrier family 52 member 1 + SLC52A1 + + FLJ10060 + GPCR42 + PAR2 + RFVT1 + Riboflavin transporter 1 + hRFT1 + riboflavin transporter 1 + + + gene with protein product + + + + Ensembl + ENSG00000132517 + + + Genatlas + SLC52A1 + + + HGNC + 30225 + + + OMIM + 607883 + + + SwissProt + Q9NWF4 + + + IUPHAR + 2571 + + + ClinVar + SLC52A1 + + + Reactome + Q9NWF4 + + + + + 17p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 411788 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411788 + Familial isolated trichomegaly + + Disease + + + Disorder + + + + 24989505[PMID] + + fibroblast growth factor 5 + FGF5 + + + + gene with protein product + + + + ClinVar + FGF5 + + + Ensembl + ENSG00000138675 + + + Genatlas + FGF5 + + + HGNC + 3683 + + + OMIM + 165190 + + + Reactome + P12034 + + + SwissProt + P12034 + + + + + 4q21.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 411986 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411986 + Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome + + Malformation syndrome + + + Disorder + + + + 24814191[PMID] + + dedicator of cytokinesis 7 + DOCK7 + + KIAA1771 + ZIR2 + + + gene with protein product + + + + ClinVar + DOCK7 + + + Ensembl + ENSG00000116641 + + + Genatlas + DOCK7 + + + HGNC + 19190 + + + OMIM + 615730 + + + Reactome + Q96N67 + + + SwissProt + Q96N67 + + + + + 1p31.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 412022 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412022 + Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome + + Malformation syndrome + + + Disorder + + + + 24768550[PMID] + + aspartate beta-hydroxylase + ASPH + + BAH + CASQ2BP1 + HAAH + JCTN + humbug + junctate + junctin + + + gene with protein product + + + + ClinVar + ASPH + + + Ensembl + ENSG00000198363 + + + Genatlas + ASPH + + + HGNC + 757 + + + OMIM + 600582 + + + Reactome + Q12797 + + + SwissProt + Q12797 + + + + + 8q12.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 411641 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411641 + Ocular cystinosis + + Clinical subtype + + + Subtype of disorder + + + + 20301574[PMID] + + cystinosin, lysosomal cystine transporter + CTNS + + CTNS-LSB + PQLC4 + SLC66A4 + + + gene with protein product + + + + IUPHAR + 3163 + + + ClinVar + CTNS + + + Ensembl + ENSG00000040531 + + + Genatlas + CTNS + + + HGNC + 2518 + + + OMIM + 606272 + + + Reactome + O60931 + + + SwissProt + O60931 + + + + + 17p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 411634 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411634 + Juvenile nephropathic cystinosis + + Clinical subtype + + + Subtype of disorder + + + + 20301574[PMID] + + cystinosin, lysosomal cystine transporter + CTNS + + CTNS-LSB + PQLC4 + SLC66A4 + + + gene with protein product + + + + IUPHAR + 3163 + + + ClinVar + CTNS + + + Ensembl + ENSG00000040531 + + + Genatlas + CTNS + + + HGNC + 2518 + + + OMIM + 606272 + + + Reactome + O60931 + + + SwissProt + O60931 + + + + + 17p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 371428 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371428 + Multicentric osteolysis-nodulosis-arthropathy spectrum + + Disease + + + Disorder + + + + 22922033[PMID] + + matrix metallopeptidase 2 + MMP2 + + TBE-1 + MMP-2 + + + gene with protein product + + + + HGNC + 7166 + + + IUPHAR + 1629 + + + OMIM + 120360 + + + Reactome + P08253 + + + SwissProt + P08253 + + + Ensembl + ENSG00000087245 + + + Genatlas + MMP2 + + + ClinVar + MMP2 + + + + + 16q12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22922033[PMID] + + matrix metallopeptidase 14 + MMP14 + + MT1-MMP + membrane type 1 metalloprotease + membrane type 1-matrix metalloproteinase + + + gene with protein product + + + + HGNC + 7160 + + + IUPHAR + 1638 + + + OMIM + 600754 + + + Reactome + P50281 + + + SwissProt + P50281 + + + Ensembl + ENSG00000157227 + + + Genatlas + MMP14 + + + ClinVar + MMP14 + + + + + 14q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 391677 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391677 + Short stature-optic atrophy-Pelger-Huët anomaly syndrome + + Malformation syndrome + + + Disorder + + + + 20577004[PMID] + + NBAS subunit of NRZ tethering complex + NBAS + + NAG + + + gene with protein product + + + + Reactome + A2RRP1 + + + ClinVar + NBAS + + + HGNC + 15625 + + + OMIM + 608025 + + + SwissProt + A2RRP1 + + + Ensembl + ENSG00000151779 + + + Genatlas + NBAS + + + + + 2p24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 391474 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391474 + Frontorhiny + + Malformation syndrome + + + Disorder + + + + 19409524[PMID] + + ALX homeobox 3 + ALX3 + + + + gene with protein product + + + + ClinVar + ALX3 + + + Ensembl + ENSG00000156150 + + + Genatlas + ALX3 + + + HGNC + 449 + + + OMIM + 606014 + + + SwissProt + O95076 + + + + + 1p13.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 391490 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391490 + Adult-onset myasthenia gravis + + Clinical subtype + + + Subtype of disorder + + + + 25643325[PMID] + + TNF receptor superfamily member 11a + TNFRSF11A + + CD265 + FEO + RANK + osteoclast differentiation factor receptor + ODFR + receptor activator of nuclear factor kappa B + TRANCE-R + TRANCE receptor + familial expansile osteolysis + + + gene with protein product + + + + IUPHAR + 1881 + + + Ensembl + ENSG00000141655 + + + Genatlas + TNFRSF11A + + + HGNC + 11908 + + + OMIM + 603499 + + + Reactome + Q9Y6Q6 + + + SwissProt + Q9Y6Q6 + + + ClinVar + TNFRSF11A + + + + + 18q21.33 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 25643325[PMID] + + cytotoxic T-lymphocyte associated protein 4 + CTLA4 + + CD + CD152 + GSE + gluten-sensitive enteropathy + celiac disease + CTLA-4 + + + gene with protein product + + + + IUPHAR + 2743 + + + ClinVar + CTLA4 + + + Ensembl + ENSG00000163599 + + + Genatlas + CTLA4 + + + HGNC + 2505 + + + OMIM + 123890 + + + Reactome + P16410 + + + SwissProt + P16410 + + + + + 2q33.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 25643325[PMID] + + major histocompatibility complex, class II, DQ alpha 1 + HLA-DQA1 + + CELIAC1 + + + gene with protein product + + + + OMIM + 146880 + + + Reactome + P01909 + + + SwissProt + P01909 + + + Ensembl + ENSG00000196735 + + + Genatlas + HLA-DQA1 + + + HGNC + 4942 + + + ClinVar + HLA-DQA1 + + + + + 6p21.32 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 391487 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391487 + STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome + + Disease + + + Disorder + + + + 23534974[PMID] + + signal transducer and activator of transcription 1 + STAT1 + + ISGF-3 + STAT91 + transcription factor ISGF-3 components p91/p84 + + + gene with protein product + + + + Ensembl + ENSG00000115415 + + + Genatlas + STAT1 + + + HGNC + 11362 + + + OMIM + 600555 + + + Reactome + P42224 + + + SwissProt + P42224 + + + ClinVar + STAT1 + + + + + 2q32.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 391646 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391646 + Feingold syndrome type 2 + + Clinical subtype + + + Subtype of disorder + + + + 21892160[PMID] + + miR-17-92a-1 cluster host gene + MIR17HG + + FLJ14178 + LINC00048 + MIHG1 + MIRH1 + NCRNA00048 + long intergenic non-protein coding RNA 48 + miR-17-92 + non-protein coding RNA 48 + + + Non-coding RNA + + + + Ensembl + ENSG00000215417 + + + Genatlas + MIR17HG + + + HGNC + 23564 + + + OMIM + 609415 + + + SwissProt + Q75NE6 + + + ClinVar + MIR17HG + + + + + 13q31.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 391641 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391641 + Feingold syndrome type 1 + + Clinical subtype + + + Subtype of disorder + + + + 18470948[PMID]_15821734[PMID]_20301770[PMID] + + MYCN proto-oncogene, bHLH transcription factor + MYCN + + MYCNOT + N-myc + bHLHe37 + + + gene with protein product + + + + Reactome + P04198 + + + ClinVar + MYCN + + + OMIM + 164840 + + + SwissProt + P04198 + + + Ensembl + ENSG00000134323 + + + Genatlas + MYCN + + + HGNC + 7559 + + + + + 2p24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 391665 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391665 + Homozygous familial hypercholesterolemia + + Disease + + + Disorder + + + + 20172523[PMID] + + ATP binding cassette subfamily G member 5 + ABCG5 + + STSL + sterolin 1 + + + gene with protein product + + + + IUPHAR + 794 + + + ClinVar + ABCG5 + + + Genatlas + ABCG5 + + + HGNC + 13886 + + + OMIM + 605459 + + + Reactome + Q9H222 + + + SwissProt + Q9H222 + + + Ensembl + ENSG00000138075 + + + + + 2p21 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 20172523[PMID] + + ATP binding cassette subfamily G member 8 + ABCG8 + + GBD4 + gallbladder disease 4 + sterolin 2 + + + gene with protein product + + + + IUPHAR + 795 + + + ClinVar + ABCG8 + + + Ensembl + ENSG00000143921 + + + Genatlas + ABCG8 + + + HGNC + 13887 + + + OMIM + 605460 + + + Reactome + Q9H221 + + + SwissProt + Q9H221 + + + + + 2p21 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 24404629[PMID] + + apolipoprotein B + APOB + + ApoB-100 + + + gene with protein product + + + + Ensembl + ENSG00000084674 + + + Genatlas + APOB + + + HGNC + 603 + + + OMIM + 107730 + + + Reactome + P04114 + + + SwissProt + P04114 + + + ClinVar + APOB + + + + + 2p24.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 11326085[PMID] + + low density lipoprotein receptor adaptor protein 1 + LDLRAP1 + + MGC34705 + ARH + ARH2 + DKFZp586D0624 + FHCB1 + FHCB2 + autosomal recessive hypercholesterolemia + + + gene with protein product + + + + ClinVar + LDLRAP1 + + + OMIM + 605747 + + + Reactome + Q5SW96 + + + SwissProt + Q5SW96 + + + Ensembl + ENSG00000157978 + + + Genatlas + LDLRAP1 + + + HGNC + 18640 + + + + + 1p36.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24404629[PMID] + + proprotein convertase subtilisin/kexin type 9 + PCSK9 + + FH3 + NARC-1 + + + gene with protein product + + + + Ensembl + ENSG00000169174 + + + Genatlas + PCSK9 + + + HGNC + 20001 + + + IUPHAR + 2388 + + + OMIM + 607786 + + + SwissProt + Q8NBP7 + + + Reactome + Q8NBP7 + + + ClinVar + PCSK9 + + + + + 1p32.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24404629[PMID] + + low density lipoprotein receptor + LDLR + + LDLCQ2 + familial hypercholesterolemia + + + gene with protein product + + + + ClinVar + LDLR + + + Ensembl + ENSG00000130164 + + + Genatlas + LDLR + + + HGNC + 6547 + + + OMIM + 606945 + + + Reactome + P01130 + + + SwissProt + P01130 + + + + + 19p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 391343 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391343 + Fatal post-viral neurodegenerative disorder + + Disease + + + Disorder + + + + 23443029[PMID] + + perforin 1 + PRF1 + + HPLH2 + P1 + PFP + Perforin + perforin 1 (preforming protein) + + + gene with protein product + + + + IUPHAR + 3100 + + + Ensembl + ENSG00000180644 + + + Genatlas + PRF1 + + + HGNC + 9360 + + + OMIM + 170280 + + + SwissProt + P14222 + + + ClinVar + PRF1 + + + + + 10q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 391348 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391348 + Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome + + Disease + + + Disorder + + + + 24119684[PMID] + + sideroflexin 4 + SFXN4 + + SLC56A4 + + + gene with protein product + + + + Ensembl + ENSG00000183605 + + + Genatlas + SFXN4 + + + HGNC + 16088 + + + OMIM + 615564 + + + SwissProt + Q6P4A7 + + + ClinVar + SFXN4 + + + + + 10q26.11 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 391351 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391351 + SURF1-related Charcot-Marie-Tooth disease type 4 + + Disease + + + Disorder + + + + 24027061[PMID] + + SURF1 cytochrome c oxidase assembly factor + SURF1 + + surfeit locus protein 1 + SHY1 + + + gene with protein product + + + + Ensembl + ENSG00000148290 + + + Genatlas + SURF1 + + + HGNC + 11474 + + + OMIM + 185620 + + + Reactome + Q15526 + + + SwissProt + Q15526 + + + ClinVar + SURF1 + + + + + 9q34.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 391366 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391366 + Growth retardation-mild developmental delay-chronic hepatitis syndrome + + Disease + + + Disorder + + + + 23908464[PMID] + + SH2B adaptor protein 3 + SH2B3 + + IDDM20 + LNK + lymphocyte adaptor protein + + + gene with protein product + + + + ClinVar + SH2B3 + + + Ensembl + ENSG00000111252 + + + Genatlas + SH2B3 + + + HGNC + 29605 + + + OMIM + 605093 + + + Reactome + Q9UQQ2 + + + SwissProt + Q9UQQ2 + + + + + 12q24.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 391372 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391372 + FOXP1 Syndrome + + Malformation syndrome + + + Disorder + + + + 24214399[PMID] + + forkhead box P1 + FOXP1 + + 12CC4 + HSPC215 + PAX5/FOXP1 fusion protein + QRF1 + fork head-related protein like B + glutamine-rich factor 1 + hFKH1B + + + gene with protein product + + + + ClinVar + FOXP1 + + + Reactome + Q9H334 + + + Ensembl + ENSG00000114861 + + + Genatlas + FOXP1 + + + HGNC + 3823 + + + OMIM + 605515 + + + SwissProt + Q9H334 + + + + + 3p13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 391376 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391376 + Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome + + Disease + + + Disorder + + + + 24139043[PMID] + + asparagine synthetase (glutamine-hydrolyzing) + ASNS + + + + gene with protein product + + + + ClinVar + ASNS + + + Ensembl + ENSG00000070669 + + + Genatlas + ASNS + + + HGNC + 753 + + + OMIM + 108370 + + + Reactome + P08243 + + + SwissProt + P08243 + + + + + 7q21.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 391389 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391389 + Familial episodic pain syndrome with predominantly upper body involvement + + Clinical subtype + + + Subtype of disorder + + + + 20547126[PMID] + + transient receptor potential cation channel subfamily A member 1 + TRPA1 + + + + gene with protein product + + + + ClinVar + TRPA1 + + + SwissProt + O75762 + + + Ensembl + ENSG00000104321 + + + Genatlas + TRPA1 + + + HGNC + 497 + + + IUPHAR + 485 + + + OMIM + 604775 + + + Reactome + O75762 + + + + + 8q21.11 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 391392 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391392 + Familial episodic pain syndrome with predominantly lower limb involvement + + Clinical subtype + + + Subtype of disorder + + + + 24207120[PMID] + + sodium voltage-gated channel alpha subunit 11 + SCN11A + + NaN + Nav1.9 + SNS-2 + + + gene with protein product + + + + Ensembl + ENSG00000168356 + + + Genatlas + SCN11A + + + HGNC + 10583 + + + IUPHAR + 586 + + + OMIM + 604385 + + + Reactome + Q9UI33 + + + SwissProt + Q9UI33 + + + ClinVar + SCN11A + + + + + 3p22.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 391397 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391397 + Hereditary sensory and autonomic neuropathy type 7 + + Disease + + + Disorder + + + + 24036948[PMID] + + sodium voltage-gated channel alpha subunit 11 + SCN11A + + NaN + Nav1.9 + SNS-2 + + + gene with protein product + + + + Ensembl + ENSG00000168356 + + + Genatlas + SCN11A + + + HGNC + 10583 + + + IUPHAR + 586 + + + OMIM + 604385 + + + Reactome + Q9UI33 + + + SwissProt + Q9UI33 + + + ClinVar + SCN11A + + + + + 3p22.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 391408 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391408 + Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome + + Disease + + + Disorder + + + + 26159176[PMID]_26307080[PMID] + + protein phosphatase 1 regulatory subunit 15B + PPP1R15B + + FLJ14744 + + + gene with protein product + + + + Reactome + Q5SWA1 + + + ClinVar + PPP1R15B + + + HGNC + 14951 + + + OMIM + 613257 + + + Genatlas + PPP1R15B + + + SwissProt + Q5SWA1 + + + Ensembl + ENSG00000158615 + + + + + 1q32.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 24204302[PMID] + + tRNA methyltransferase 10A + TRMT10A + + MGC27034 + TRM10 + + + gene with protein product + + + + ClinVar + TRMT10A + + + Ensembl + ENSG00000145331 + + + Genatlas + TRMT10A + + + HGNC + 28403 + + + OMIM + 616013 + + + Reactome + Q8TBZ6 + + + SwissProt + Q8TBZ6 + + + + + 4q23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 391411 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391411 + Atypical juvenile parkinsonism + + Disease + + + Disorder + + + + 26864383[PMID] + + podocalyxin like + PODXL + + Gp200 + PC + PCLP + PODXL1 + gp135 + PDX + + + gene with protein product + + + + HGNC + 9171 + + + OMIM + 602632 + + + Reactome + O00592 + + + ClinVar + PODXL + + + Genatlas + PODXL + + + SwissProt + O00592 + + + Ensembl + ENSG00000128567 + + + + + 7q32.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22563501[PMID]_23211418[PMID] + + DnaJ heat shock protein family (Hsp40) member C6 + DNAJC6 + + KIAA0473 + PARK19 + auxilin + + + gene with protein product + + + + ClinVar + DNAJC6 + + + Ensembl + ENSG00000116675 + + + Genatlas + DNAJC6 + + + HGNC + 15469 + + + OMIM + 608375 + + + Reactome + O75061 + + + SwissProt + O75061 + + + + + 1p31.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23804563[PMID]_23804577[PMID] + + synaptojanin 1 + SYNJ1 + + INPP5G + PARK20 + inositol polyphosphate-5-phosphatase G + phosphoinositide 5-phosphatase + synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1 + + + gene with protein product + + + + ClinVar + SYNJ1 + + + IUPHAR + 1461 + + + Ensembl + ENSG00000159082 + + + Genatlas + SYNJ1 + + + HGNC + 11503 + + + OMIM + 604297 + + + Reactome + O43426 + + + SwissProt + O43426 + + + + + 21q22.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 391428 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391428 + HSD10 disease, infantile type + + Clinical subtype + + + Subtype of disorder + + + + 22127393[PMID] + + hydroxysteroid 17-beta dehydrogenase 10 + HSD17B10 + + 17b-HSD10 + AB-binding alcohol dehydrogenase + ABAD + CAMR + ERAB + MHBD + MRPP2 + SDR5C1 + mitochondrial RNase P subunit 2 + short chain dehydrogenase/reductase family 5C, member 1 + type 10 17b-HSD + type 10 17beta-hydroxysteroid dehydrogenase + + + gene with protein product + + + + Ensembl + ENSG00000072506 + + + Genatlas + HSD17B10 + + + HGNC + 4800 + + + OMIM + 300256 + + + Reactome + Q99714 + + + SwissProt + Q99714 + + + ClinVar + HSD17B10 + + + + + Xp11.22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 391457 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391457 + HSD10 disease, neonatal type + + Clinical subtype + + + Subtype of disorder + + + + 22127393[PMID] + + hydroxysteroid 17-beta dehydrogenase 10 + HSD17B10 + + 17b-HSD10 + AB-binding alcohol dehydrogenase + ABAD + CAMR + ERAB + MHBD + MRPP2 + SDR5C1 + mitochondrial RNase P subunit 2 + short chain dehydrogenase/reductase family 5C, member 1 + type 10 17b-HSD + type 10 17beta-hydroxysteroid dehydrogenase + + + gene with protein product + + + + Ensembl + ENSG00000072506 + + + Genatlas + HSD17B10 + + + HGNC + 4800 + + + OMIM + 300256 + + + Reactome + Q99714 + + + SwissProt + Q99714 + + + ClinVar + HSD17B10 + + + + + Xp11.22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 391307 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391307 + Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome + + Malformation syndrome + + + Disorder + + + + 23956177[PMID] + + TELO2 interacting protein 2 + TTI2 + + FLJ23263 + + + gene with protein product + + + + Ensembl + ENSG00000129696 + + + Genatlas + TTI2 + + + HGNC + 26262 + + + OMIM + 614426 + + + SwissProt + Q6NXR4 + + + ClinVar + TTI2 + + + + + 8p12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 391316 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391316 + Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression + + Disease + + + Disorder + + + + 23686771[PMID] + + tyrosine kinase non receptor 2 + TNK2 + + ACK + ACK1 + activated Cdc42-associated kinase 1 + p21cdc42Hs + + + gene with protein product + + + + Reactome + Q07912 + + + Ensembl + ENSG00000061938 + + + Genatlas + TNK2 + + + HGNC + 19297 + + + IUPHAR + 2246 + + + OMIM + 606994 + + + SwissProt + Q07912 + + + ClinVar + TNK2 + + + + + 3q29 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 391311 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391311 + Susceptibility to viral and mycobacterial infections due to STAT1 deficiency + + Disease + + + Disorder + + + + 23403048[PMID]_23534974[PMID]_23541320[PMID] + + signal transducer and activator of transcription 1 + STAT1 + + ISGF-3 + STAT91 + transcription factor ISGF-3 components p91/p84 + + + gene with protein product + + + + Ensembl + ENSG00000115415 + + + Genatlas + STAT1 + + + HGNC + 11362 + + + OMIM + 600555 + + + Reactome + P42224 + + + SwissProt + P42224 + + + ClinVar + STAT1 + + + + + 2q32.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 391320 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391320 + East Texas bleeding disorder + + Etiological subtype + + + Subtype of disorder + + + + 23979162[PMID] + + coagulation factor V + F5 + + + + gene with protein product + + + + ClinVar + F5 + + + Ensembl + ENSG00000198734 + + + Genatlas + F5 + + + HGNC + 3542 + + + IUPHAR + 2606 + + + OMIM + 612309 + + + Reactome + P12259 + + + SwissProt + P12259 + + + + + 1q24.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 391330 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391330 + X-linked osteoporosis with fractures + + Disease + + + Disorder + + + + 24088043[PMID] + + plastin 3 + PLS3 + + T-plastin + + + gene with protein product + + + + Ensembl + ENSG00000102024 + + + Genatlas + PLS3 + + + HGNC + 9091 + + + OMIM + 300131 + + + SwissProt + P13797 + + + ClinVar + PLS3 + + + + + Xq23 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 397968 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397968 + Charcot-Marie-Tooth disease type 2R + + Disease + + + Disorder + + + + 23562820[PMID] + + tripartite motif containing 2 + TRIM2 + + CMT2R + KIAA0517 + RNF86 + RING finger protein 86 + Charcot-Marie-Tooth disease, type 2R + + + gene with protein product + + + + HGNC + 15974 + + + OMIM + 614141 + + + Reactome + Q9C040 + + + SwissProt + Q9C040 + + + Ensembl + ENSG00000109654 + + + Genatlas + TRIM2 + + + ClinVar + TRIM2 + + + + + 4q31.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 397964 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397964 + Combined immunodeficiency due to MALT1 deficiency + + Disease + + + Disorder + + + + 23727036[PMID]_24332264[PMID] + + MALT1 paracaspase + MALT1 + + MALT1 protease + PCASP1 + paracaspase 1 + + + gene with protein product + + + + Ensembl + ENSG00000172175 + + + Genatlas + MALT1 + + + HGNC + 6819 + + + OMIM + 604860 + + + Reactome + Q9UDY8 + + + SwissProt + Q9UDY8 + + + ClinVar + MALT1 + + + IUPHAR + 2983 + + + + + 18q21.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 397959 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397959 + TCR-alpha-beta-positive T-cell deficiency + + Disease + + + Disorder + + + + 21206088[PMID] + + T-cell receptor alpha constant + TRAC + + + + gene with protein product + + + + Ensembl + ENSG00000277734 + + + Genatlas + TRAC + + + HGNC + 12029 + + + OMIM + 186880 + + + Reactome + P01848 + + + SwissProt + P01848 + + + ClinVar + TRAC + + + + + 14q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 397951 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397951 + Microcephaly-thin corpus callosum-intellectual disability syndrome + + Disease + + + Disorder + + + + 24084144[PMID] + + TATA-box binding protein associated factor 2 + TAF2 + + CIF150 + TAFII150 + + + gene with protein product + + + + HGNC + 11536 + + + OMIM + 604912 + + + Reactome + Q6P1X5 + + + SwissProt + Q6P1X5 + + + ClinVar + TAF2 + + + Ensembl + ENSG00000064313 + + + Genatlas + TAF2 + + + + + 8q24.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 397946 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397946 + Autosomal spastic paraplegia type 58 + + Disease + + + Disorder + + + + 24319291[PMID]_24482476[PMID] + + kinesin family member 1C + KIF1C + + SPAX2 + SPG58 + + + gene with protein product + + + + Reactome + O43896 + + + Ensembl + ENSG00000129250 + + + Genatlas + KIF1C + + + HGNC + 6317 + + + OMIM + 603060 + + + SwissProt + O43896 + + + ClinVar + KIF1C + + + + + 17p13.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 397941 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397941 + MAN1B1-CDG + + Disease + + + Disorder + + + + 24348268[PMID] + + mannosidase alpha class 1B member 1 + MAN1B1 + + endoplasmic Reticulum Class I alpha-mannosidase + ERMan1 + Alpha 1,2-mannosidase + ER alpha 1,2-mannosidase + ERManI + Endoplasmic reticulum alpha-mannosidase 1 + Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1 + MANA-ER + MRT15 + Man9GlcNAc2-specific processing alpha-mannosidase + alpha 1,2-mannosidase + endoplasmic reticulum alpha-mannosidase 1 + endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1 + + + gene with protein product + + + + Ensembl + ENSG00000177239 + + + Genatlas + MAN1B1 + + + HGNC + 6823 + + + OMIM + 604346 + + + Reactome + Q9UKM7 + + + SwissProt + Q9UKM7 + + + ClinVar + MAN1B1 + + + + + 9q34.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 397937 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397937 + Polyglucosan body myopathy type 1 + + Disease + + + Disorder + + + + 23798481[PMID]_23674175[PMID] + + RANBP2-type and C3HC4-type zinc finger containing 1 + RBCK1 + + HOIL1 + RBCK2 + RNF54 + UBCE7IP3 + XAP4 + ZRANB4 + heme-oxidized IRP2 ubiquitin ligase 1 + + + gene with protein product + + + + ClinVar + RBCK1 + + + Ensembl + ENSG00000125826 + + + Genatlas + RBCK1 + + + HGNC + 15864 + + + OMIM + 610924 + + + Reactome + Q9BYM8 + + + SwissProt + Q9BYM8 + + + + + 20p13 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 397933 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397933 + Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome + + Disease + + + Disorder + + + + 23674175[PMID] + + IQ motif and Sec7 domain ArfGEF 2 + IQSEC2 + + brefeldin A resistant Arf-guanine nucleotide exchange factor 1 + KIAA0522 + BRAG1 + IQ-ArfGEF + + + gene with protein product + + + + Ensembl + ENSG00000124313 + + + Genatlas + IQSEC2 + + + HGNC + 29059 + + + OMIM + 300522 + + + SwissProt + Q5JU85 + + + ClinVar + IQSEC2 + + + + + Xp11.22 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 397927 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397927 + Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome + + Malformation syndrome + + + Disorder + + + + 24253444[PMID] + + T-box transcription factor T + TBXT + + + + gene with protein product + + + + IUPHAR + 3304 + + + Ensembl + ENSG00000164458 + + + Genatlas + T + + + HGNC + 11515 + + + OMIM + 601397 + + + SwissProt + O15178 + + + ClinVar + T + + + + + 6q27 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 397922 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397922 + Ferro-cerebro-cutaneous syndrome + + Disease + + + Disorder + + + + 24259288[PMID] + + phosphatidylinositol glycan anchor biosynthesis class A + PIGA + + GPI3 (SPT14) homolog (S. cerevisiae) + PIG-A + Phosphatidylinositol N-acetylglucosaminyltransferase subunit A + GPI3 + paroxysmal nocturnal hemoglobinuria + + + gene with protein product + + + + Ensembl + ENSG00000165195 + + + Genatlas + PIGA + + + HGNC + 8957 + + + OMIM + 311770 + + + Reactome + P37287 + + + SwissProt + P37287 + + + ClinVar + PIGA + + + + + Xp22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 397787 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397787 + Combined immunodeficiency due to IKBKB deficiency + + Disease + + + Disorder + + + + 24369075[PMID] + + inhibitor of nuclear factor kappa B kinase subunit beta + IKBKB + + IKK-beta + IKK2 + IKKB + NFKBIKB + + + gene with protein product + + + + ClinVar + IKBKB + + + Ensembl + ENSG00000104365 + + + Genatlas + IKBKB + + + HGNC + 5960 + + + IUPHAR + 2039 + + + OMIM + 603258 + + + Reactome + O14920 + + + SwissProt + O14920 + + + + + 8p11.21 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 397755 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397755 + Periodic paralysis with transient compartment-like syndrome + + Disease + + + Disorder + + + + 24240197[PMID] + + calcium voltage-gated channel subunit alpha1 S + CACNA1S + + Cav1.1 + hypoPP + + + gene with protein product + + + + Ensembl + ENSG00000081248 + + + Genatlas + CACNA1S + + + HGNC + 1397 + + + IUPHAR + 528 + + + OMIM + 114208 + + + Reactome + Q13698 + + + SwissProt + Q13698 + + + ClinVar + CACNA1S + + + + + 1q32.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 397758 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397758 + Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies + + Disease + + + Disorder + + + + 24026677[PMID] + + integral membrane protein 2B + ITM2B + + BRI + BRI2 + BRICD2B + BRICHOS domain containing 2B + E25B + E3-16 + + + gene with protein product + + + + SwissProt + Q9Y287 + + + ClinVar + ITM2B + + + Ensembl + ENSG00000136156 + + + Genatlas + ITM2B + + + HGNC + 6174 + + + OMIM + 603904 + + + Reactome + Q9Y287 + + + + + 13q14.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 397744 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397744 + MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome + + Disease + + + Disorder + + + + 21480433[PMID] + + myosin heavy chain 14 + MYH14 + + KIAA2034 + MHC16 + MYH17 + FLJ13881 + + + gene with protein product + + + + ClinVar + MYH14 + + + Ensembl + ENSG00000105357 + + + Genatlas + MYH14 + + + HGNC + 23212 + + + OMIM + 608568 + + + Reactome + Q7Z406 + + + SwissProt + Q7Z406 + + + + + 19q13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 397750 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397750 + Periodic paralysis with later-onset distal motor neuropathy + + Disease + + + Disorder + + + + 24153443[PMID] + + mitochondrially encoded ATP synthase membrane subunit 6 + MT-ATP6 + + ATP6 + ATPase-6 + Su6m + mitochondrially encoded ATP synthase membrane subunit a + + + gene with protein product + + + + ClinVar + MT-ATP6 + + + Ensembl + ENSG00000198899 + + + Genatlas + MT-ATP6 + + + HGNC + 7414 + + + OMIM + 516060 + + + Reactome + P00846 + + + SwissProt + P00846 + + + IUPHAR + 801 + + + + + mitochondria + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24153443[PMID] + + mitochondrially encoded ATP synthase membrane subunit 8 + MT-ATP8 + + mitochondrially encoded ATP synthase membrane subunit A6L + A6L + ATP8 + URFA6L + + + gene with protein product + + + + IUPHAR + 809 + + + Genatlas + MT-ATP8 + + + HGNC + 7415 + + + OMIM + 516070 + + + Reactome + P03928 + + + SwissProt + P03928 + + + Ensembl + ENSG00000228253 + + + ClinVar + MT-ATP8 + + + + + mitochondria + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 397725 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397725 + COASY protein-associated neurodegeneration + + Disease + + + Disorder + + + + 24360804[PMID] + + Coenzyme A synthase + COASY + + CoASY + DPCK + NBP + PPAT + bifunctional Coenzyme A synthase + + + gene with protein product + + + + ClinVar + COASY + + + Ensembl + ENSG00000068120 + + + Genatlas + COASY + + + HGNC + 29932 + + + OMIM + 609855 + + + Reactome + Q13057 + + + SwissProt + Q13057 + + + + + 17q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 397735 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397735 + Autosomal dominant Charcot-Marie-Tooth disease type 2U + + Disease + + + Disorder + + + + 23729695[PMID] + + methionyl-tRNA synthetase 1 + MARS1 + + CMT2U + MetRS + SPG70 + methionine tRNA ligase 1, cytoplasmic + Methionine--tRNA ligase, cytoplasmic + + + gene with protein product + + + + ClinVar + MARS + + + HGNC + 6898 + + + OMIM + 156560 + + + Reactome + P56192 + + + SwissProt + P56192 + + + Ensembl + ENSG00000166986 + + + Genatlas + MARS + + + + + 12q13.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 397709 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397709 + Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome + + Malformation syndrome + + + Disorder + + + + 25439728[PMID] + + sorting nexin 14 + SNX14 + + RGS-PX2 + + + gene with protein product + + + + ClinVar + SNX14 + + + Ensembl + ENSG00000135317 + + + Genatlas + SNX14 + + + HGNC + 14977 + + + OMIM + 616105 + + + SwissProt + Q9Y5W7 + + + + + 6q14.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 397715 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397715 + Joubert syndrome with Jeune asphyxiating thoracic dystrophy + + Malformation syndrome + + + Disorder + + + + 24360808[PMID] + + centrosome and spindle pole associated protein 1 + CSPP1 + + CSPP + FLJ22490 + JBTS21 + CSPP-L + + + gene with protein product + + + + ClinVar + CSPP1 + + + Ensembl + ENSG00000104218 + + + Genatlas + CSPP1 + + + HGNC + 26193 + + + OMIM + 611654 + + + SwissProt + Q1MSJ5 + + + + + 8q13.1-q13.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 26386044[PMID] + + KIAA0586 + KIAA0586 + + JBTS23 + Talpid3 + + + gene with protein product + + + + ClinVar + KIAA0586 + + + Ensembl + ENSG00000100578 + + + Genatlas + KIAA0586 + + + HGNC + 19960 + + + OMIM + 610178 + + + SwissProt + Q9BVV6 + + + + + 14q23.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 397692 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397692 + Hereditary isolated aplastic anemia + + Disease + + + Disorder + + + + 24085763[PMID] + + thrombopoietin + THPO + + MPL ligand + MPLLG + TPO + c-mpl ligand + megakaryocyte colony-stimulating factor + megakaryocyte growth and development factor + megakaryocyte stimulating factor + myeloproliferative leukemia virus oncogene ligand + prepro-thrombopoietin + thrombopoietin nirs + + + gene with protein product + + + + ClinVar + THPO + + + Ensembl + ENSG00000090534 + + + Genatlas + THPO + + + HGNC + 11795 + + + OMIM + 600044 + + + Reactome + P40225 + + + SwissProt + P40225 + + + + + 3q27.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 22180433[PMID] + + MPL proto-oncogene, thrombopoietin receptor + MPL + + CD110 + TPOR + THPOR + + + gene with protein product + + + + ClinVar + MPL + + + Ensembl + ENSG00000117400 + + + Genatlas + MPL + + + HGNC + 7217 + + + IUPHAR + 1722 + + + OMIM + 159530 + + + Reactome + P40238 + + + SwissProt + P40238 + + + + + 1p34.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 25205116[PMID] + + ACD shelterin complex subunit and telomerase recruitment factor + ACD + + POT1 and TIN2 organizing protein + Pip1 + Ptop + TIN2 interacting protein 1 + Tint1 + Tpp1 + + + gene with protein product + + + + ClinVar + ACD + + + Ensembl + ENSG00000102977 + + + Genatlas + ACD + + + HGNC + 25070 + + + OMIM + 609377 + + + Reactome + Q96AP0 + + + SwissProt + Q96AP0 + + + + + 16q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 397623 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397623 + Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome + + Malformation syndrome + + + Disorder + + + + 24290375[PMID] + + goosecoid homeobox + GSC + + GSC1 + + + gene with protein product + + + + ClinVar + GSC + + + HGNC + 4612 + + + OMIM + 138890 + + + SwissProt + P56915 + + + Ensembl + ENSG00000133937 + + + Genatlas + GSC + + + + + 14q32.13 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 397685 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397685 + Familial hyperprolactinemia + + Disease + + + Disorder + + + + 24195502[PMID] + + prolactin receptor + PRLR + + + + gene with protein product + + + + IUPHAR + 1721 + + + ClinVar + PRLR + + + Ensembl + ENSG00000113494 + + + Genatlas + PRLR + + + HGNC + 9446 + + + OMIM + 176761 + + + Reactome + P16471 + + + SwissProt + P16471 + + + + + 5p13.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 397615 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397615 + Obesity due to CEP19 deficiency + + Etiological subtype + + + Subtype of disorder + + + + 24268657[PMID] + + centrosomal protein 19 + CEP19 + + MGC14126 + + + gene with protein product + + + + Reactome + Q96LK0 + + + Ensembl + ENSG00000174007 + + + Genatlas + CEP19 + + + HGNC + 28209 + + + OMIM + 615586 + + + SwissProt + Q96LK0 + + + ClinVar + CEP19 + + + + + 3q29 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 397618 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397618 + Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome + + Disease + + + Disorder + + + + 24290379[PMID] + + solute carrier family 38 member 8 + SLC38A8 + + Putative sodium-coupled neutral amino acid transporter 8 + SNAT8 + + + gene with protein product + + + + IUPHAR + 1176 + + + Ensembl + ENSG00000166558 + + + Genatlas + SLC38A8 + + + HGNC + 32434 + + + OMIM + 615585 + + + SwissProt + A6NNN8 + + + ClinVar + SLC38A8 + + + + + 16q23.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 397593 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397593 + Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency + + Disease + + + Disorder + + + + 23814038[PMID] + + LYR motif containing 4 + LYRM4 + + CGI-203 + ISD11 + + + gene with protein product + + + + Ensembl + ENSG00000214113 + + + Genatlas + LYRM4 + + + HGNC + 21365 + + + OMIM + 613311 + + + Reactome + Q9HD34 + + + SwissProt + Q9HD34 + + + ClinVar + LYRM4 + + + + + 6p25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24498631[PMID] + + NFS1 cysteine desulfurase + NFS1 + + IscS + NifS + + + gene with protein product + + + + Ensembl + ENSG00000244005 + + + Genatlas + NFS1 + + + HGNC + 15910 + + + OMIM + 603485 + + + Reactome + Q9Y697 + + + SwissProt + Q9Y697 + + + ClinVar + NFS1 + + + + + 20q11.22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 397612 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397612 + Macrocephaly-developmental delay syndrome + + Malformation syndrome + + + Disorder + + + + 24239382[PMID] + + kaptin, actin binding protein + KPTN + + 2E4 + KICS4 + + + gene with protein product + + + + Ensembl + ENSG00000118162 + + + Genatlas + KPTN + + + HGNC + 6404 + + + OMIM + 615620 + + + SwissProt + Q9Y664 + + + ClinVar + KPTN + + + + + 19q13.32 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 397606 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397606 + PrP systemic amyloidosis + + Disease + + + Disorder + + + + 24224623[PMID] + + prion protein (Kanno blood group) + PRNP + + AltPrP + CD230 + Creutzfeldt-Jakob disease + Gerstmann-Strausler-Scheinker syndrome + PRP + fatal familial insomnia + p27-30 + + + gene with protein product + + + + ClinVar + PRNP + + + Ensembl + ENSG00000171867 + + + Genatlas + PRNP + + + HGNC + 9449 + + + OMIM + 176640 + + + Reactome + P04156 + + + SwissProt + P04156 + + + + + 20p13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 397590 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397590 + Silver-Russell syndrome due to a point mutation + + Etiological subtype + + + Subtype of disorder + + + + 26154720[PMID] + + insulin like growth factor 2 + IGF2 + + FLJ44734 + IGF-II + preptin + somatomedin A + + + gene with protein product + + + + Ensembl + ENSG00000167244 + + + Genatlas + IGF2 + + + HGNC + 5466 + + + OMIM + 147470 + + + Reactome + P01344 + + + SwissProt + P01344 + + + ClinVar + IGF2 + + + + + 11p15.5 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24065356[PMID] + + cyclin dependent kinase inhibitor 1C + CDKN1C + + KIP2 + P57 + + + gene with protein product + + + + Ensembl + ENSG00000129757 + + + Genatlas + CDKN1C + + + HGNC + 1786 + + + OMIM + 600856 + + + SwissProt + P49918 + + + Reactome + P49918 + + + ClinVar + CDKN1C + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 29655892[PMID] + + high mobility group AT-hook 2 + HMGA2 + + BABL + LIPO + + + gene with protein product + + + + Genatlas + HMGA2 + + + HGNC + 5009 + + + OMIM + 600698 + + + Reactome + P52926 + + + SwissProt + P52926 + + + Ensembl + ENSG00000149948 + + + ClinVar + HMGA2 + + + + + 12q14.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 28796236[PMID] + + PLAG1 zinc finger + PLAG1 + + ZNF912 + + + gene with protein product + + + + OMIM + 603026 + + + Genatlas + PLAG1 + + + SwissProt + Q6DJT9 + + + Ensembl + ENSG00000181690 + + + ClinVar + PLAG1 + + + HGNC + 9045 + + + + + 8q12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 394532 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394532 + Multiple acyl-CoA dehydrogenase deficiency, mild type + + Clinical subtype + + + Subtype of disorder + + + + 28443623[PMID]_26933868[PMID] + + solute carrier family 25 member 32 + SLC25A32 + + MFTC + + + gene with protein product + + + + Genatlas + SLC25A32 + + + IUPHAR + 1083 + + + SwissProt + Q9H2D1 + + + OMIM + 138480 + + + Ensembl + ENSG00000164933 + + + Reactome + Q9H2D1 + + + ClinVar + SLC25A32 + + + HGNC + 29683 + + + + + 8q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 28433476[PMID] + + flavin adenine dinucleotide synthetase 1 + FLAD1 + + PP591 + FAD1 + FAD-adenylyl transferase + + + gene with protein product + + + + Genatlas + FLAD1 + + + Reactome + Q8NFF5 + + + SwissProt + Q8NFF5 + + + OMIM + 610595 + + + Ensembl + ENSG00000160688 + + + HGNC + 24671 + + + ClinVar + FLAD1 + + + + + 1q21.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + electron transfer flavoprotein subunit alpha + ETFA + + EMA + GA2 + MADD + glutaric aciduria II + multiple acyl-CoA dehydrogenase deficiency + + + gene with protein product + + + + Ensembl + ENSG00000140374 + + + Genatlas + ETFA + + + HGNC + 3481 + + + OMIM + 608053 + + + Reactome + P13804 + + + SwissProt + P13804 + + + ClinVar + ETFA + + + + + 15q24.2-q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + electron transfer flavoprotein subunit beta + ETFB + + + + gene with protein product + + + + Genatlas + ETFB + + + HGNC + 3482 + + + OMIM + 130410 + + + Reactome + P38117 + + + SwissProt + P38117 + + + Ensembl + ENSG00000105379 + + + ClinVar + ETFB + + + + + 19q13.41 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + electron transfer flavoprotein dehydrogenase + ETFDH + + ETFQO + + + gene with protein product + + + + ClinVar + ETFDH + + + Ensembl + ENSG00000171503 + + + Genatlas + ETFDH + + + HGNC + 3483 + + + OMIM + 231675 + + + Reactome + Q16134 + + + SwissProt + Q16134 + + + + + 4q32.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 394529 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394529 + Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type + + Clinical subtype + + + Subtype of disorder + + + + + + electron transfer flavoprotein subunit alpha + ETFA + + EMA + GA2 + MADD + glutaric aciduria II + multiple acyl-CoA dehydrogenase deficiency + + + gene with protein product + + + + Ensembl + ENSG00000140374 + + + Genatlas + ETFA + + + HGNC + 3481 + + + OMIM + 608053 + + + Reactome + P13804 + + + SwissProt + P13804 + + + ClinVar + ETFA + + + + + 15q24.2-q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + electron transfer flavoprotein subunit beta + ETFB + + + + gene with protein product + + + + Genatlas + ETFB + + + HGNC + 3482 + + + OMIM + 130410 + + + Reactome + P38117 + + + SwissProt + P38117 + + + Ensembl + ENSG00000105379 + + + ClinVar + ETFB + + + + + 19q13.41 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + electron transfer flavoprotein dehydrogenase + ETFDH + + ETFQO + + + gene with protein product + + + + ClinVar + ETFDH + + + Ensembl + ENSG00000171503 + + + Genatlas + ETFDH + + + HGNC + 3483 + + + OMIM + 231675 + + + Reactome + Q16134 + + + SwissProt + Q16134 + + + + + 4q32.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 27259049[PMID] + + flavin adenine dinucleotide synthetase 1 + FLAD1 + + PP591 + FAD1 + FAD-adenylyl transferase + + + gene with protein product + + + + Genatlas + FLAD1 + + + Reactome + Q8NFF5 + + + SwissProt + Q8NFF5 + + + OMIM + 610595 + + + Ensembl + ENSG00000160688 + + + HGNC + 24671 + + + ClinVar + FLAD1 + + + + + 1q21.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 399805 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399805 + Male infertility with azoospermia or oligozoospermia due to single gene mutation + + Disease + + + Disorder + + + + 28548327[PMID] + + sperm associated antigen 17 + SPAG17 + + CT143 + FLJ34497 + PF6 + RP4-776P7.2 + + + gene with protein product + + + + HGNC + 26620 + + + Ensembl + ENSG00000155761 + + + SwissProt + Q6Q759 + + + OMIM + 616554 + + + Genatlas + SPAG17 + + + ClinVar + SPAG17 + + + + + 1p12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 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1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 35476666[PMID] + + Mov10 like RNA helicase 1 + MOV10L1 + + DKFZp434B0717 + CHAMP + cardiac helicase activated by MEF2C protein + DJ402G11.8 + + + gene with protein product + + + + HGNC + 7201 + + + Ensembl + ENSG00000073146 + + + OMIM + 605794 + + + SwissProt + Q9BXT6 + + + + + 22q13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 30878252[PMID] + + F-box protein 43 + FBXO43 + + Fbx43 + + + gene with protein product + + + + HGNC + 28521 + + + Ensembl + ENSG00000156509 + + + OMIM + 609110 + + + SwissProt + Q4G163 + + + + + 8q22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 32741963[PMID] + + shortage in chiasmata 1 + SHOC1 + + Zip2 + MZIP2 + FLJ32779 + Zip2 homolog (S. cerevisiae) + + + gene with protein product + + + + HGNC + 26535 + + + Ensembl + ENSG00000165181 + + + OMIM + 618038 + + + SwissProt + Q5VXU9 + + + + + 9q31.3 + 1 + + + + + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399086 + HNRNPA1-related adult-onset distal myopathy + + Disease + + + Disorder + + + + 34722876[PMID] + + heterogeneous nuclear ribonucleoprotein A1 + HNRNPA1 + + ALS20 + hnRNP-A1 + hnRNPA1 + + + gene with protein product + + + + ClinVar + HNRNPA1 + + + Ensembl + ENSG00000135486 + + + Genatlas + HNRNPA1 + + + HGNC + 5031 + + + OMIM + 164017 + + + Reactome + P09651 + + + SwissProt + P09651 + + + + + 12q13.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 399081 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399081 + KLHL9-related early-onset distal myopathy + + Disease + + + Disorder + + + + 20554658[PMID] + + kelch like family member 9 + KLHL9 + + FLJ13568 + KIAA1354 + + + gene with protein product + + + + Ensembl + ENSG00000198642 + + + Genatlas + KLHL9 + + + HGNC + 18732 + + + OMIM + 611201 + + + Reactome + Q9P2J3 + + + SwissProt + Q9P2J3 + + + ClinVar + KLHL9 + + + + + 9p21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 399103 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399103 + Autosomal recessive distal nebulin myopathy + + Disease + + + Disorder + + + + 17525139[PMID] + + nebulin + NEB + + NEB177D + nemaline myopathy type 2 + + + gene with protein product + + + + OMIM + 161650 + + + Reactome + P20929 + + + SwissProt + P20929 + + + Ensembl + ENSG00000183091 + + + Genatlas + NEB + + + HGNC + 7720 + + + ClinVar + NEB + + + + + 2q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 399096 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399096 + Distal anoctaminopathy + + Disease + + + Disorder + + + + 22980764[PMID] + + anoctamin 5 + ANO5 + + GDD1 + + + gene with protein product + + + + Ensembl + ENSG00000171714 + + + Genatlas + ANO5 + + + HGNC + 27337 + + + OMIM + 608662 + + + Reactome + Q75V66 + + + SwissProt + Q75V66 + + + ClinVar + ANO5 + + + + + 11p14.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 398189 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398189 + Focal facial dermal dysplasia type IV + + Clinical subtype + + + Subtype of disorder + + + + 23161670[PMID] + + cytochrome P450 family 26 subfamily C member 1 + CYP26C1 + + + + gene with protein product + + + + Ensembl + ENSG00000187553 + + + Genatlas + CYP26C1 + + + HGNC + 20577 + + + OMIM + 608428 + + + Reactome + Q6V0L0 + + + SwissProt + Q6V0L0 + + + IUPHAR + 1368 + + + ClinVar + CYP26C1 + + + + + 10q23.33 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 398069 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398069 + Schaaf-Yang syndrome + + Disease + + + Disorder + + + + 24076603[PMID] + + MAGE family member L2 + MAGEL2 + + nM15 + + + gene with protein product + + + + Reactome + Q9UJ55 + + + ClinVar + MAGEL2 + + + Ensembl + ENSG00000254585 + + + Genatlas + MAGEL2 + + + HGNC + 6814 + + + OMIM + 605283 + + + SwissProt + Q9UJ55 + + + + + 15q11.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 398079 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398079 + SIM1-related Prader-Willi-like syndrome + + Disease + + + Disorder + + + + 23778136[PMID] + + SIM bHLH transcription factor 1 + SIM1 + + bHLHe14 + + + gene with protein product + + + + ClinVar + SIM1 + + + Ensembl + ENSG00000112246 + + + Genatlas + SIM1 + + + HGNC + 10882 + + + OMIM + 603128 + + + SwissProt + P81133 + + + + + 6q16.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 398088 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398088 + Hereditary cryohydrocytosis with normal stomatin + + Disease + + + Disorder + + + + 16227998[PMID] + + solute carrier family 4 member 1 (Diego blood group) + SLC4A1 + + CD233 + FR + Froese blood group + RTA1A 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+ + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 435660 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435660 + LIPE-related familial partial lipodystrophy + + Disease + + + Disorder + + + + 25475467[PMID] + + lipase E, hormone sensitive type + LIPE + + HSL + + + gene with protein product + + + + ClinVar + LIPE + + + Ensembl + ENSG00000079435 + + + Genatlas + LIPE + + + HGNC + 6621 + + + IUPHAR + 2593 + + + OMIM + 151750 + + + Reactome + Q05469 + + + SwissProt + Q05469 + + + + + 19q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 435651 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435651 + CIDEC-related familial partial lipodystrophy + + Disease + + + Disorder + + + + 20049731[PMID] + + cell death inducing DFFA like effector c + CIDEC + + CIDE-3 + FLJ20871 + Fsp27 + + + gene with protein product + + + + Genatlas + CIDEC + + + HGNC + 24229 + + + OMIM + 612120 + + + SwissProt + Q96AQ7 + + + Reactome + Q96AQ7 + + + ClinVar + CIDEC + + + Ensembl + ENSG00000187288 + + + + + 3p25.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 435638 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435638 + 3p25.3 microdeletion syndrome + + Malformation syndrome + + + Disorder + + + + 25138099[PMID] + + SET domain containing 5 + SETD5 + + FLJ10707 + SETD5A + + + gene with protein product + + + + ClinVar + SETD5 + + + Ensembl + ENSG00000168137 + + + Genatlas + SETD5 + + + HGNC + 25566 + + + OMIM + 615743 + + + SwissProt + Q9C0A6 + + + + + 3p25.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 28881385[PMID] + + bromodomain and PHD finger containing 1 + BRPF1 + + BR140 + bromodomain-containing protein, 140kD + peregrin + + + gene with protein product + + + + HGNC + 14255 + + + Ensembl + ENSG00000156983 + + + OMIM + 602410 + + + IUPHAR + 2730 + + + SwissProt + P55201 + + + + + 3p25.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 435804 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435804 + Short stature-advanced bone age-early-onset osteoarthritis syndrome + + Disease + + + Disorder + + + + 24762113[PMID] + + aggrecan + ACAN + + CSPGCP + aggrecan proteoglycan + + + gene with protein product + + + + ClinVar + ACAN + + + Ensembl + ENSG00000157766 + + + Genatlas + ACAN + + + HGNC + 319 + + + OMIM + 155760 + + + Reactome + P16112 + + + SwissProt + P16112 + + + + + 15q26.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 435845 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435845 + Lethal neonatal spasticity-epileptic encephalopathy syndrome + + Malformation syndrome + + + Disorder + + + + 25500575[PMID] + + BRCA1 associated ATM activator 1 + BRAT1 + + BRCA1-associated protein required for ATM activation protein 1 + MGC22916 + + + gene with protein product + + + + ClinVar + C7orf27 + + + Ensembl + ENSG00000106009 + + + Genatlas + C7orf27 + + + HGNC + 21701 + + + OMIM + 614506 + + + SwissProt + Q6PJG6 + + + Reactome + Q6PJG6 + + + + + 7p22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 435930 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435930 + Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome + + Disease + + + Disorder + + + + 24702266[PMID]_23167593[PMID] + + SIX homeobox 6 + SIX6 + + Six9 + + + gene with protein product + + + + ClinVar + SIX6 + + + Ensembl + ENSG00000184302 + + + Genatlas + SIX6 + + + HGNC + 10892 + + + OMIM + 606326 + + + SwissProt + O95475 + + + + + 14q23.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 435819 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435819 + Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation + + Disease + + + Disorder + + + + 25098539[PMID] + + trafficking from ER to golgi regulator + TFG + + FLJ36137 + SPG57 + TF6 + + + gene with protein product + + + + ClinVar + TFG + + + Ensembl + ENSG00000114354 + + + Genatlas + TFG + + + HGNC + 11758 + + + OMIM + 602498 + + + Reactome + Q92734 + + + SwissProt + Q92734 + + + + + 3q12.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 435953 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435953 + Progeroid features-hepatocellular carcinoma predisposition syndrome + + Disease + + + Disorder + + + + 25261934[PMID] + + SprT-like N-terminal domain + SPRTN + + DKFZP547N043 + DNA damage-targeting VCP (p97) adaptor + DVC1 + Spartan + SprT-like domain at the N terminus + + + gene with protein product + + + + ClinVar + SPRTN + + + Ensembl + ENSG00000010072 + + + Genatlas + SPRTN + + + HGNC + 25356 + + + OMIM + 616086 + + + Reactome + Q9H040 + + + SwissProt + Q9H040 + + + + + 1q42.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 435988 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435988 + Chronic atrial and intestinal dysrhythmia syndrome + + Disease + + + Disorder + + + + 25282101[PMID] + + shugoshin 1 + SGO1 + + NY-BR-85 + + + gene with protein product + + + + ClinVar + SGOL1 + + + OMIM + 609168 + + + Reactome + Q5FBB7 + + + SwissProt + Q5FBB7 + + + Ensembl + ENSG00000129810 + + + Genatlas + SGOL1 + + + HGNC + 25088 + + + + + 3p24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 435934 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435934 + COG2-CDG + + Disease + + + Disorder + + + + 24784932[PMID] + + component of oligomeric golgi complex 2 + COG2 + + + + gene with protein product + + + + ClinVar + COG2 + + + Ensembl + ENSG00000135775 + + + Genatlas + COG2 + + + HGNC + 6546 + + + OMIM + 606974 + + + Reactome + Q14746 + + + SwissProt + Q14746 + + + + + 1q42.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 435938 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435938 + X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome + + Malformation syndrome + + + Disorder + + + + 25316788[PMID] + + ribosomal protein L10 + RPL10 + + DXS648 + DXS648E + FLJ23544 + L10 + NOV + QM + uL16 + + + gene with protein product + + + + ClinVar + RPL10 + + + Ensembl + ENSG00000147403 + + + Genatlas + RPL10 + + + HGNC + 10298 + + + OMIM + 312173 + + + Reactome + P27635 + + + SwissProt + P27635 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 436141 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436141 + HIDEA syndrome + + Malformation syndrome + + + Disorder + + + + 35908151[PMID] + + prolyl 4-hydroxylase, transmembrane + P4HTM + + FLJ20262 + P4H-TM + PHD4 + EGLN4 + PH4 + PH-4 + HIFPH4 + Prolyl hydroxlase domain-containing 4 + hypoxia inducible factor prolyl 4 hydroxylase + + + gene with protein product + + + + Ensembl + ENSG00000178467 + + + ClinVar + P4HTM + + + HGNC + 28858 + + + OMIM + 614584 + + + Genatlas + P4HTM + + + SwissProt + Q9NXG6 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 436144 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436144 + Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome + + Disease + + + Disorder + + + + 25057881[PMID] + + cyclin dependent kinase inhibitor 1C + CDKN1C + + KIP2 + P57 + + + gene with protein product + + + + Ensembl + ENSG00000129757 + + + Genatlas + CDKN1C + + + HGNC + 1786 + + + OMIM + 600856 + + + SwissProt + P49918 + + + Reactome + P49918 + + + ClinVar + CDKN1C + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 435998 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435998 + Autosomal recessive intermediate Charcot-Marie-Tooth disease type D + + Disease + + + Disorder + + + + 25152455[PMID] + + cytochrome c oxidase subunit 6A1 + COX6A1 + + cytochrome c oxidase subunit VIa liver isoform + COX6AL + + + gene with protein product + + + + ClinVar + COX6A1 + + + Ensembl + ENSG00000111775 + + + Genatlas + COX6A1 + + + HGNC + 2277 + + + OMIM + 602072 + + + Reactome + P12074 + + + SwissProt + P12074 + + + + + 12q24.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 436159 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436159 + Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency + + Disease + + + Disorder + + + + 25213377[PMID] + + cytotoxic T-lymphocyte associated protein 4 + CTLA4 + + CD + CD152 + GSE + gluten-sensitive enteropathy + celiac disease + CTLA-4 + + + gene with protein product + + + + IUPHAR + 2743 + + + ClinVar + CTLA4 + + + Ensembl + ENSG00000163599 + + + Genatlas + CTLA4 + + + HGNC + 2505 + + + OMIM + 123890 + + + Reactome + P16410 + + + SwissProt + P16410 + + + + + 2q33.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 436151 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436151 + Intellectual disability-expressive aphasia-facial dysmorphism syndrome + + Malformation syndrome + + + Disorder + + + + 38923504[PMID]_33867525[PMID] + + SET binding protein 1 + SETBP1 + + KIAA0437 + SEB + + + gene with protein product + + + + ClinVar + SETBP1 + + + Ensembl + ENSG00000152217 + + + Genatlas + SETBP1 + + + HGNC + 15573 + + + OMIM + 611060 + + + SwissProt + Q9Y6X0 + + + + + 18q12.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 436169 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436169 + Thrombomodulin-related bleeding disorder + + Disease + + + Disorder + + + + 25049278[PMID]_25564403[PMID] + + thrombomodulin + THBD + + CD141 + THRM + fetomodulin + BDCA-3 + + + gene with protein product + + + + ClinVar + THBD + + + Ensembl + ENSG00000178726 + + + Genatlas + THBD + + + HGNC + 11784 + + + OMIM + 188040 + + + Reactome + P07204 + + + SwissProt + P07204 + + + + + 20p11.21 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 436166 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436166 + Periodic fever-infantile enterocolitis-autoinflammatory syndrome + + Disease + + + Disorder + + + + 25217960[PMID]_25217959[PMID] + + NLR family CARD domain containing 4 + NLRC4 + + CLAN + CLAN1 + CLANA + CLANB + CLANC + CLAND + CLR2.1 + NOD-like receptor C4 + ipaf + nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4 + + + gene with protein product + + + + Ensembl + ENSG00000091106 + + + ClinVar + NLRC4 + + + Genatlas + NLRC4 + + + HGNC + 16412 + + + IUPHAR + 1782 + + + OMIM + 606831 + + + Reactome + Q9NPP4 + + + SwissProt + Q9NPP4 + + + + + 2p22.3 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 436182 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436182 + Microcephalic primordial dwarfism-insulin resistance syndrome + + Malformation syndrome + + + Disorder + + + + 25105364[PMID] + + NSE2 SUMO ligase component of SMC5/6 complex + NSMCE2 + + FLJ32440 + MMS21 + NSE2 + ZMIZ7 + zinc finger, MIZ-type containing 7 + + + gene with protein product + + + + Ensembl + ENSG00000156831 + + + Genatlas + NSMCE2 + + + HGNC + 26513 + + + Reactome + Q96MF7 + + + SwissProt + Q96MF7 + + + ClinVar + NSMCE2 + + + OMIM + 617246 + + + + + 8q24.13 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 25728776[PMID] + + X-ray repair cross complementing 4 + XRCC4 + + DNA repair protein XRCC4 + X-ray repair, complementing defective, repair in Chinese hamster + hXRCC4 + + + gene with protein product + + + + HGNC + 12831 + + + OMIM + 194363 + + + Genatlas + XRCC4 + + + SwissProt + Q13426 + + + Reactome + Q13426 + + + Ensembl + ENSG00000152422 + + + ClinVar + XRCC4 + + + + + 5q14.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 436174 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436174 + Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome + + Disease + + + Disorder + + + + 25130867[PMID] + + isoleucyl-tRNA synthetase 2, mitochondrial + IARS2 + + FLJ10326 + isoleucine tRNA ligase 2, mitochondrial + + + gene with protein product + + + + Ensembl + ENSG00000067704 + + + Genatlas + IARS2 + + + HGNC + 29685 + + + OMIM + 612801 + + + Reactome + Q9NSE4 + + + SwissProt + Q9NSE4 + + + ClinVar + IARS2 + + + + + 1q41 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 436245 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436245 + Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome + + Disease + + + Disorder + + + + 24916380[PMID] + + retinol dehydrogenase 11 + RDH11 + + ARSDR1 + MDT1 + SDR7C1 + androgen-regulated short-chain dehydrogenase/reductase 1 + short chain dehydrogenase/reductase family 7C, member 1 + + + gene with protein product + + + + ClinVar + RDH11 + + + Reactome + Q8TC12 + + + SwissProt + Q8TC12 + + + Ensembl + ENSG00000072042 + + + Genatlas + RDH11 + + + HGNC + 17964 + + + OMIM + 607849 + + + + + 14q24.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 436242 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436242 + Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease + + Disease + + + Disorder + + + + 24925317[PMID] + + TNNI3 interacting kinase + TNNI3K + + CARK + + + gene with protein product + + + + Ensembl + ENSG00000116783 + + + Genatlas + TNNI3K + + + HGNC + 19661 + + + IUPHAR + 2247 + + + OMIM + 613932 + + + SwissProt + Q59H18 + + + ClinVar + TNNI3K + + + Reactome + Q59H18 + + + + + 1p31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 436271 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436271 + Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy + + Disease + + + Disorder + + + + 25175347[PMID] + + cytochrome c oxidase assembly factor 8 + COA8 + + APOP-1 + MGC2562 + apoptogenic protein 1 + + + gene with protein product + + + + ClinVar + APOPT1 + + + Ensembl + ENSG00000256053 + + + Genatlas + APOPT1 + + + HGNC + 20492 + + + OMIM + 616003 + + + SwissProt + Q96IL0 + + + + + 14q32.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 436252 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436252 + Combined immunodeficiency-multiple intestinal atresia + + Disease + + + Disorder + + + + 24417819[PMID]_25174867[PMID] + + tetratricopeptide repeat domain 7A + TTC7A + + KIAA1140 + + + gene with protein product + + + + Ensembl + ENSG00000068724 + + + ClinVar + TTC7A + + + Genatlas + TTC7A + + + HGNC + 19750 + + + OMIM + 609332 + + + SwissProt + Q9ULT0 + + + + + 2p21 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 34415310[PMID] + + phosphatidylinositol 4-kinase alpha + PI4KA + + phosphatidylinositol 4-kinase III alpha + PI4K-ALPHA + pi4K230 + phosphatidylinositol 4-kinase IIIa + + + gene with protein product + + + + Ensembl + ENSG00000241973 + + + Genatlas + PI4KA + + + HGNC + 8983 + + + IUPHAR + 2148 + + + OMIM + 600286 + + + Reactome + P42356 + + + SwissProt + P42356 + + + ClinVar + PI4KA + + + + + 22q11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 436274 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436274 + Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa + + Disease + + + Disorder + + + + 24739904[PMID] + + gamma-glutamyl carboxylase + GGCX + + VKCFD1 + vitamin K-dependent gamma-carboxylase + peptidyl-glutamate 4-carboxylase + + + gene with protein product + + + + ClinVar + GGCX + + + Ensembl + ENSG00000115486 + + + Genatlas + GGCX + + + HGNC + 4247 + + + IUPHAR + 1268 + + + OMIM + 137167 + + + Reactome + P38435 + + + SwissProt + P38435 + + + + + 2p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 437552 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437552 + Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity + + Disease + + + Disorder + + + + 23006327[PMID] + + Fc fragment of IgG receptor IIIa + FCGR3A + + FcgammaRIIIa + FcGRIIIA + CD16 + CD16a + Fc gamma receptor IIIa + + + gene with protein product + + + + Ensembl + ENSG00000203747 + + + Genatlas + FCGR3A + + + HGNC + 3619 + + + OMIM + 146740 + + + Reactome + P08637 + + + SwissProt + P08637 + + + ClinVar + FCGR3A + + + IUPHAR + 3017 + + + + + 1q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 438178 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438178 + Fatty acyl-CoA reductase 1 deficiency + + Disease + + + Disorder + + + + 25439727[PMID] + + fatty acyl-CoA reductase 1 + FAR1 + + FLJ22728 + SDR10E1 + short chain dehydrogenase/reductase family 10E, member 1 + + + gene with protein product + + + + Ensembl + ENSG00000197601 + + + Genatlas + FAR1 + + + HGNC + 26222 + + + OMIM + 616107 + + + Reactome + Q8WVX9 + + + SwissProt + Q8WVX9 + + + ClinVar + FAR1 + + + + + 11p15.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 438159 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438159 + STAT3-related early-onset multisystem autoimmune disease + + Disease + + + Disorder + + + + 25038750[PMID] + + signal transducer and activator of transcription 3 + STAT3 + + APRF + + + gene with protein product + + + + Ensembl + ENSG00000168610 + + + Genatlas + STAT3 + + + HGNC + 11364 + + + OMIM + 102582 + + + Reactome + P40763 + + + SwissProt + P40763 + + + IUPHAR + 2994 + + + ClinVar + STAT3 + + + + + 17q21.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 438134 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438134 + PCNA-related progressive neurodegenerative photosensitivity syndrome + + Disease + + + Disorder + + + + 24911150[PMID] + + proliferating cell nuclear antigen + PCNA + + + + gene with protein product + + + + Reactome + P12004 + + + SwissProt + P12004 + + + ClinVar + PCNA + + + Ensembl + ENSG00000132646 + + + Genatlas + PCNA + + + HGNC + 8729 + + + OMIM + 176740 + + + + + 20p12.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 438117 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438117 + Steel syndrome + + Disease + + + Disorder + + + + 24986830[PMID] + + collagen type XXVII alpha 1 chain + COL27A1 + + FLJ11895 + KIAA1870 + MGC11337 + + + gene with protein product + + + + OMIM + 608461 + + + Reactome + Q8IZC6 + + + SwissProt + Q8IZC6 + + + ClinVar + COL27A1 + + + Ensembl + ENSG00000196739 + + + Genatlas + COL27A1 + + + HGNC + 22986 + + + + + 9q32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 438114 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438114 + RARS-related autosomal recessive hypomyelinating leukodystrophy + + Disease + + + Disorder + + + + 24777941[PMID] + + arginyl-tRNA synthetase 1 + RARS1 + + DALRD1 + arginine tRNA ligase 1, cytoplasmic + + + gene with protein product + + + + HGNC + 9870 + + + OMIM + 107820 + + + Reactome + P54136 + + + SwissProt + P54136 + + + Ensembl + ENSG00000113643 + + + Genatlas + RARS + + + ClinVar + RARS + + + + + 5q34 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 438075 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438075 + Ketoacidosis due to monocarboxylate transporter-1 deficiency + + Disease + + + Disorder + + + + 25390740[PMID] + + solute carrier family 16 member 1 + SLC16A1 + + Monocarboxylate transporter 1 + MCT + MCT1 + + + gene with protein product + + + + Ensembl + ENSG00000155380 + + + Genatlas + SLC16A1 + + + HGNC + 10922 + + + OMIM + 600682 + + + Reactome + P53985 + + + SwissProt + P53985 + + + ClinVar + SLC16A1 + + + IUPHAR + 988 + + + + + 1p13.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 438274 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438274 + GCGR-related hyperglucagonemia + + Disease + + + Disorder + + + + 19657311[PMID]_25914784[PMID] + + glucagon receptor + GCGR + + GGR + + + gene with protein product + + + + Ensembl + ENSG00000215644 + + + Genatlas + GCGR + + + HGNC + 4192 + + + IUPHAR + 251 + + + OMIM + 138033 + + + Reactome + P47871 + + 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439822 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439822 + PDE4D haploinsufficiency syndrome + + Malformation syndrome + + + Disorder + + + + 24203977[PMID] + + phosphodiesterase 4D + PDE4D + + cAMP-specific 3',5'-cyclic phosphodiesterase 4D + phosphodiesterase E3 dunce homolog (Drosophila) + + + gene with protein product + + + + IUPHAR + 1303 + + + Ensembl + ENSG00000113448 + + + Genatlas + PDE4D + + + HGNC + 8783 + + + OMIM + 600129 + + + Reactome + Q08499 + + + SwissProt + Q08499 + + + ClinVar + PDE4D + + + + + 5q11.2-q12.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 439854 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439854 + Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease + + Disease + + + Disorder + + + + 15877279[PMID]_17667862[PMID] + + protein kinase AMP-activated non-catalytic subunit gamma 2 + PRKAG2 + + AAKG + AAKG2 + AMPK gamma2 + CMH6 + H91620p + WPWS 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due to ABCA3 deficiency + + Disease + + + Disorder + + + + 22018035[PMID] + + ATP binding cassette subfamily A member 3 + ABCA3 + + ABC-C + EST111653 + LBM180 + + + gene with protein product + + + + ClinVar + ABCA3 + + + IUPHAR + 758 + + + Ensembl + ENSG00000167972 + + + Genatlas + ABCA3 + + + HGNC + 33 + + + OMIM + 601615 + + + Reactome + Q99758 + + + SwissProt + Q99758 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 440354 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440354 + Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome + + Malformation syndrome + + + Disorder + + + + 25091507[PMID] + + collagen type XI alpha 1 chain + COL11A1 + + CO11A1 + STL2 + collagen XI, alpha-1 polypeptide + + + gene with protein product + + + + ClinVar + COL11A1 + + + Ensembl + ENSG00000060718 + + + Genatlas + COL11A1 + + + HGNC + 2186 + + + OMIM + 120280 + + + Reactome + P12107 + + + SwissProt + P12107 + + + + + 1p21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 440392 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440392 + Interstitial lung disease due to SP-C deficiency + + Disease + + + Disorder + + + + 25782673[PMID] + + surfactant protein C + SFTPC + + BRICD6 + BRICHOS domain containing 6 + PSP-C + SMDP2 + SP-C + + + gene with protein product + + + + ClinVar + SFTPC + + + Ensembl + ENSG00000168484 + + + Genatlas + SFTPC + + + HGNC + 10802 + + + OMIM + 178620 + + + Reactome + P11686 + + + SwissProt + P11686 + + + + + 8p21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 440713 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440713 + Isolated sedoheptulokinase deficiency + + Disease + + + Disorder + + + + 25647543[PMID] + + sedoheptulokinase + SHPK + + SHK + + + gene with protein product + + + + Reactome + Q9UHJ6 + + + ClinVar + SHPK + + 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ferritin light polypeptide-like 3 + neurodegeneration with brain iron accumulation 3 + FTL1 + + + gene with protein product + + + + ClinVar + FTL + + + Ensembl + ENSG00000087086 + + + Genatlas + FTL + + + HGNC + 3999 + + + OMIM + 134790 + + + Reactome + P02792 + + + SwissProt + P02792 + + + + + 19q13.33 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 440427 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440427 + Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency + + Disease + + + Disorder + + + + 24103465[PMID]_25913036[PMID] + + methionyl-tRNA synthetase 1 + MARS1 + + CMT2U + MetRS + SPG70 + methionine tRNA ligase 1, cytoplasmic + Methionine--tRNA ligase, cytoplasmic + + + gene with protein product + + + + ClinVar + MARS + + + HGNC + 6898 + + + OMIM + 156560 + + + Reactome + P56192 + + + SwissProt + P56192 + + + Ensembl + ENSG00000166986 + + + Genatlas + MARS + + + + + 12q13.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 440437 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440437 + Familial colorectal cancer Type X + + Disease + + + Disorder + + + + 21640116[PMID] + + bone morphogenetic protein receptor type 1A + BMPR1A + + ALK3 + CD292 + + + gene with protein product + + + + HGNC + 1076 + + + IUPHAR + 1786 + + + OMIM + 601299 + + + Reactome + P36894 + + + SwissProt + P36894 + + + ClinVar + BMPR1A + + + Ensembl + ENSG00000107779 + + + Genatlas + BMPR1A + + + + + 10q23.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 38778081[PMID] + + nuclear protein, coactivator of histone transcription + NPAT + + E14 + p220 + + + gene with protein product + + + + Ensembl + ENSG00000149308 + + + OMIM + 601448 + + + SwissProt + Q14207 + + + HGNC + 7896 + + + + + 11q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24691292[PMID]_23007840[PMID] + + mutY DNA 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germline mutation(s) in + + + Assessed + + + + 23263490[PMID]_36370464[PMID] + + DNA polymerase epsilon, catalytic subunit + POLE + + DNA polymerase epsilon catalytic subunit A + POLE1 + + + gene with protein product + + + + ClinVar + POLE + + + OMIM + 174762 + + + Reactome + Q07864 + + + SwissProt + Q07864 + + + Ensembl + ENSG00000177084 + + + Genatlas + POLE + + + HGNC + 9177 + + + + + 12q24.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 28306219[PMID] + + DNA polymerase delta 1, catalytic subunit + POLD1 + + CDC2 + CDC2 homolog (S. cerevisiae) + + + gene with protein product + + + + Ensembl + ENSG00000062822 + + + Genatlas + POLD1 + + + HGNC + 9175 + + + OMIM + 174761 + + + Reactome + P28340 + + + SwissProt + P28340 + + + ClinVar + POLD1 + + + + + 19q13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 36370464[PMID] + + BRCA2 DNA repair associated + BRCA2 + + BRCA1/BRCA2-containing complex, subunit 2 + BRCC2 + FAD + FAD1 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polypeptide-emerin-MAN1 domain containing 2 + + + gene with protein product + + + + HGNC + 21244 + + + OMIM + 616312 + + + Genatlas + LEMD2 + + + SwissProt + Q8NC56 + + + Reactome + Q8NC56 + + + Ensembl + ENSG00000161904 + + + ClinVar + LEMD2 + + + + + 6p21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21245961[PMID] + + crystallin beta B2 + CRYBB2 + + + + gene with protein product + + + + ClinVar + CRYBB2 + + + Ensembl + ENSG00000244752 + + + Genatlas + CRYBB2 + + + HGNC + 2398 + + + OMIM + 123620 + + + SwissProt + P43320 + + + + + 22q11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 17701905[PMID] + + charged multivesicular body protein 4B + CHMP4B + + VPS32B + dJ553F4.4 + SNF7-2 + Shax1 + + + gene with protein product + + + + Ensembl + ENSG00000101421 + + + Genatlas + CHMP4B + + + HGNC + 16171 + + + OMIM + 610897 + + + Reactome + Q9H444 + + + SwissProt + Q9H444 + + + ClinVar + CHMP4B + + + + + 20q11.22 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 24014202[PMID] + + EPH receptor A2 + EPHA2 + + + + gene with protein product + + + + ClinVar + EPHA2 + + + Ensembl + ENSG00000142627 + + + Genatlas + EPHA2 + + + HGNC + 3386 + + + IUPHAR + 1822 + + + OMIM + 176946 + + + Reactome + P29317 + + + SwissProt + P29317 + + + + + 1p36.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24549050[PMID] + + unc-45 myosin chaperone B + UNC45B + + UNC45 + + + gene with protein product + + + + ClinVar + UNC45B + + + Reactome + Q8IWX7 + + + Ensembl + ENSG00000141161 + + + Genatlas + UNC45B + + + HGNC + 14304 + + + OMIM + 611220 + + + SwissProt + Q8IWX7 + + + + + 17q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 441452 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441452 + Early-onset lamellar cataract + + Clinical subtype + + + Subtype of disorder + + + + 10729115[PMID]_18958306[PMID] + + 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interacting with PH domain and leucine zipper 1 + APPL1 + + APPL + DCC-interacting protein 13-alpha + + + gene with protein product + + + + Ensembl + ENSG00000157500 + + + Genatlas + APPL1 + + + HGNC + 24035 + + + OMIM + 604299 + + + Reactome + Q9UKG1 + + + SwissProt + Q9UKG1 + + + ClinVar + APPL1 + + + + + 3p14.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 443087 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443087 + 46,XY difference of sex development due to testicular 17,20-desmolase deficiency + + Disease + + + Disorder + + + + 21802064[PMID] + + aldo-keto reductase family 1 member C2 + AKR1C2 + + BABP + DD + DD2 + HAKRD + MCDR2 + dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III + + + gene with protein product + + + + ClinVar + AKR1C2 + + + Ensembl + ENSG00000151632 + + + Genatlas + AKR1C2 + + + HGNC + 385 + + + OMIM + 600450 + + + Reactome + P52895 + + + SwissProt + P52895 + + + + + 10p15.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 21802064[PMID] + + aldo-keto reductase family 1 member C4 + AKR1C4 + + 3-alpha-HSD + C11 + CDR + DD4 + HAKRA + MGC22581 + chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4 + dihydrodiol dehydrogenase 4 + chlordecone reductase + 3-alpha hydroxysteroid dehydrogenase, type I + + + gene with protein product + + + + ClinVar + AKR1C4 + + + Ensembl + ENSG00000198610 + + + Genatlas + AKR1C4 + + + HGNC + 387 + + + OMIM + 600451 + + + Reactome + P17516 + + + SwissProt + P17516 + + + + + 10p15.1 + 1 + + + + + Modifying germline mutation in + + + Assessed + + + + + + 443167 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443167 + NUT midline carcinoma + + Disease + + + Disorder + + + + 22017582[PMID] + + NUT midline carcinoma family member 1 + NUTM1 + + DKFZp434O192 + FAM22H + NUT + nuclear protein in testis + + + gene with protein product + + + + Ensembl + ENSG00000184507 + + + Genatlas + NUT + + + HGNC + 29919 + + + OMIM + 608963 + + + SwissProt + Q86Y26 + + + Reactome + Q86Y26 + + + ClinVar + NUT + + + + + 15q14 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 22017582[PMID] + + bromodomain containing 4 + BRD4 + + CAP + HUNK1 + HUNKI + MCAP + chromosome-associated protein + mitotic chromosome-associated protein + FSHRG4 + female sterile homeotic related gene 4 + + + gene with protein product + + + + Ensembl + ENSG00000141867 + + + Genatlas + BRD4 + + + HGNC + 13575 + + + IUPHAR + 1945 + + + OMIM + 608749 + + + SwissProt + O60885 + + + Reactome + O60885 + + + ClinVar + BRD4 + + + + + 19p13.12 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 130 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=130 + Brugada syndrome + + Disease + + + Disorder + + + + 20301690[PMID] + + hyperpolarization activated cyclic nucleotide gated potassium channel 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ClinVar + CACNB2 + + + + + 10p12 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 20301690[PMID] + + calcium voltage-gated channel subunit alpha1 C + CACNA1C + + CACH2 + CACN2 + Cav1.2 + LQT8 + TS + + + gene with protein product + + + + ClinVar + CACNA1C + + + Ensembl + ENSG00000151067 + + + Genatlas + CACNA1C + + + HGNC + 1390 + + + IUPHAR + 529 + + + OMIM + 114205 + + + Reactome + Q13936 + + + SwissProt + Q13936 + + + + + 12p13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301690[PMID]_20817017[PMID]_17224476[PMID] + + calcium voltage-gated channel auxiliary subunit alpha2delta 1 + CACNA2D1 + + alpha2delta-1 + lncRNA-N3 + + + gene with protein product + + + + Ensembl + ENSG00000153956 + + + Genatlas + CACNA2D1 + + + HGNC + 1399 + + + OMIM + 114204 + + + Reactome + P54289 + + + SwissProt + P54289 + + + ClinVar + CACNA2D1 + + + + + 7q21.11 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 20301690[PMID] + + potassium voltage-gated channel subfamily E regulatory subunit 3 + KCNE3 + + HOKPP + MiRP2 + + + gene with protein product + + + + Ensembl + ENSG00000175538 + + + Genatlas + KCNE3 + + + HGNC + 6243 + + + OMIM + 604433 + + + Reactome + Q9Y6H6 + + + SwissProt + Q9Y6H6 + + + ClinVar + KCNE3 + + + + + 11q13.4 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 20301690[PMID] + + glycerol-3-phosphate dehydrogenase 1 like + GPD1L + + KIAA0089 + + + gene with protein product + + + + Ensembl + ENSG00000152642 + + + Genatlas + GPD1L + + + HGNC + 28956 + + + OMIM + 611778 + + + Reactome + Q8N335 + + + SwissProt + Q8N335 + + + ClinVar + GPD1L + + + + + 3p22.3 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 21349352[PMID]_20301690[PMID] + + potassium voltage-gated channel subfamily D member 3 + KCND3 + + KSHIVB + Kv4.3 + + + gene with protein product + + + + ClinVar + KCND3 + + + Ensembl + ENSG00000171385 + + + Genatlas + KCND3 + + + HGNC + 6239 + + + IUPHAR 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+ sodium voltage-gated channel alpha subunit 10 + SCN10A + + Nav1.8 + PN3 + SNS + hPN3 + peripheral nerve sodium channel 3 + sensory neuron sodium channel + + + gene with protein product + + + + Ensembl + ENSG00000185313 + + + Genatlas + SCN10A + + + HGNC + 10582 + + + IUPHAR + 585 + + + OMIM + 604427 + + + Reactome + Q9Y5Y9 + + + SwissProt + Q9Y5Y9 + + + ClinVar + SCN10A + + + + + 3p22.2 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 20301690[PMID]_23064965[PMID] + + sarcolemma associated protein + SLMAP + + KIAA1601 + SLAP + Sarcolemmal-associated protein + + + gene with protein product + + + + ClinVar + SLMAP + + + OMIM + 602701 + + + SwissProt + Q14BN4 + + + Ensembl + ENSG00000163681 + + + Genatlas + SLMAP + + + HGNC + 16643 + + + Reactome + Q14BN4 + + + + + 3p14.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301690[PMID] + + sodium voltage-gated channel beta subunit 1 + SCN1B + + + + gene with protein product + + + + ClinVar 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potassium voltage-gated channel subfamily E regulatory subunit 5 + KCNE5 + + + + gene with protein product + + + + Ensembl + ENSG00000176076 + + + Genatlas + KCNE1L + + + HGNC + 6241 + + + OMIM + 300328 + + + Reactome + Q9UJ90 + + + SwissProt + Q9UJ90 + + + ClinVar + KCNE1L + + + + + Xq23 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 24142675[PMID] + + RAN guanine nucleotide release factor + RANGRF + + MOG1 + RANGNRF + MOG1 homolog (S. cerevisiae) + HSPC165 + HSPC236 + + + gene with protein product + + + + Genatlas + RANGRF + + + OMIM + 607954 + + + HGNC + 17679 + + + Reactome + Q9HD47 + + + Ensembl + ENSG00000108961 + + + ClinVar + RANGRF + + + SwissProt + Q9HD47 + + + + + 17p13.1 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 20301690[PMID] + + sodium voltage-gated channel alpha subunit 5 + SCN5A + + CDCD2 + CMPD2 + HB1 + HB2 + HBBD + HH1 + ICCD + IVF + LQT3 + Nav1.5 + PFHB1 + SSS1 + long QT syndrome 3 + + + gene with protein product + + + + ClinVar + SCN5A + + + Ensembl + ENSG00000183873 + + + Genatlas + SCN5A + + + HGNC + 10593 + + + IUPHAR + 582 + + + OMIM + 600163 + + + Reactome + Q14524 + + + SwissProt + Q14524 + + + + + 3p22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 30821013[PMID] + + sodium channel epithelial 1 subunit alpha + SCNN1A + + amiloride-sensitive sodium channel subunit alpha + ENaCalpha + + + gene with protein product + + + + ClinVar + SCNN1A + + + Genatlas + SCNN1A + + + HGNC + 10599 + + + IUPHAR + 738 + + + OMIM + 600228 + + + Reactome + P37088 + + + SwissProt + P37088 + + + Ensembl + ENSG00000111319 + + + + + 12p13.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 30821013[PMID] + + semaphorin 3A + SEMA3A + + Coll-1 + Hsema-I + SEMA1 + SemD + Sema III + sema III + coll-1 + + + gene with protein product + + + + Ensembl + ENSG00000075213 + + + Genatlas + SEMA3A + + + HGNC + 10723 + + + OMIM + 603961 + + + Reactome + Q14563 + + + SwissProt + Q14563 + + + ClinVar + SEMA3A + + + + + 7q21.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23559163[PMID]_30821013[PMID] + + sodium voltage-gated channel beta subunit 2 + SCN2B + + + + gene with protein product + + + + Ensembl + ENSG00000149575 + + + Genatlas + SCN2B + + + HGNC + 10589 + + + OMIM + 601327 + + + Reactome + O60939 + + + SwissProt + O60939 + + + ClinVar + SCN2B + + + + + 11q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22056721[PMID]_20301690[PMID] + + potassium inwardly rectifying channel subfamily J member 8 + KCNJ8 + + Kir6.1 + + + gene with protein product + + + + Genatlas + KCNJ8 + + + HGNC + 6269 + + + IUPHAR + 441 + + + OMIM + 600935 + + + Reactome + Q15842 + + + SwissProt + Q15842 + + + Ensembl + ENSG00000121361 + + + ClinVar + KCNJ8 + + + + + 12p12.1 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 27085656[PMID] + + plakophilin 2 + PKP2 + + + + gene with protein product + + + + ClinVar + PKP2 + + + Ensembl + ENSG00000057294 + + + Genatlas + PKP2 + + + HGNC + 9024 + + + OMIM + 602861 + + + SwissProt + Q99959 + + + Reactome + Q99959 + + + + + 12p11.21 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 277 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=277 + Severe combined immunodeficiency due to adenosine deaminase deficiency + + Disease + + + Disorder + + + + + + adenosine deaminase + ADA + + ADA1 + + + gene with protein product + + + + ClinVar + ADA + + + Ensembl + ENSG00000196839 + + + Genatlas + ADA + + + HGNC + 186 + + + IUPHAR + 1230 + + + OMIM + 608958 + + + Reactome + P00813 + + + SwissProt + P00813 + + + + + 20q13.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 443162 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443162 + NDE1-related microhydranencephaly + + Malformation syndrome + + + Disorder + + + + 22526350[PMID] + + nudE neurodevelopment protein 1 + NDE1 + + FLJ20101 + NDE + NUDE + nudE + + + gene with protein product + + + + Ensembl + ENSG00000072864 + + + Genatlas + NDE1 + + + HGNC + 17619 + + + OMIM + 609449 + + + Reactome + Q9NXR1 + + + SwissProt + Q9NXR1 + + + ClinVar + NDE1 + + + + + 16p13.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 443811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443811 + PGM3-CDG + + Disease + + + Disorder + + + + 24589341[PMID]_24931394[PMID] + + phosphoglucomutase 3 + PGM3 + + AGM1 + DKFZP434B187 + PAGM + acetylglucosamine phosphomutase + phosphoacetylglucosamine mutase + + + gene with protein product + + + + Ensembl + ENSG00000013375 + + + Genatlas + PGM3 + + + HGNC + 8907 + + + OMIM + 172100 + + + Reactome + O95394 + + + SwissProt + O95394 + + + ClinVar + PGM3 + + + + + 6q14.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 443950 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443950 + DNAJB2-related Charcot-Marie-Tooth disease type 2 + + Disease + + + Disorder + + + + 25274842[PMID] + + DnaJ heat shock protein family (Hsp40) member B2 + DNAJB2 + + CMT2T + HSPF3 + + + gene with protein product + + + + Ensembl + ENSG00000135924 + + + Genatlas + DNAJB2 + + + HGNC + 5228 + + + OMIM + 604139 + + + SwissProt + P25686 + + + ClinVar + DNAJB2 + + + + + 2q35 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 443988 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443988 + Ventriculomegaly-cystic kidney disease + + Disease + + + Disorder + + + + 25557780[PMID] + + crumbs cell polarity complex component 2 + CRB2 + + FLJ16786 + FLJ38464 + + + gene with protein product + + + + Ensembl + ENSG00000148204 + + + Genatlas + CRB2 + + + HGNC + 18688 + + + OMIM + 609720 + + + SwissProt + Q5IJ48 + + + ClinVar + CRB2 + + + + + 9q33.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 444092 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444092 + Autoimmune interstitial lung disease-arthritis syndrome + + Disease + + + Disorder + + + + 25894502[PMID] + + coat protein complex I subunit alpha + COPA + + HEP-COP + proxenin + xenin + alpha-COP + + + gene with protein product + + + + Ensembl + ENSG00000122218 + + + Genatlas + COPA + + + HGNC + 2230 + + + OMIM + 601924 + + + Reactome + P53621 + + + SwissProt + P53621 + + + ClinVar + COPA + + + + + 1q23.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 444099 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444099 + Autosomal dominant spastic paraplegia type 73 + + Disease + + + Disorder + + + + 25751282[PMID] + + carnitine palmitoyltransferase 1C + CPT1C + + CPT1P + CPTIC + FLJ23809 + CATL1 + + + gene with protein product + + + + Ensembl + ENSG00000169169 + + + Genatlas + CPT1C + + + HGNC + 18540 + + + OMIM + 608846 + + + SwissProt + Q8TCG5 + + + ClinVar + CPT1C + + + IUPHAR + 3251 + + + + + 19q13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 444138 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444138 + Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome + + Disease + + + Disorder + + + + 25683118[PMID] + + calpastatin + CAST + + + + gene with protein product + + + + Reactome + P20810 + + + HGNC + 1515 + + + OMIM + 114090 + + + SwissProt + P20810 + + + Ensembl + ENSG00000153113 + + + Genatlas + CAST + + + ClinVar + CAST + + + + + 5q15 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 443995 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443995 + Mandibulofacial dysostosis with alopecia + + Malformation syndrome + + + Disorder + + + + 25772936[PMID] + + endothelin receptor type A + EDNRA + + ETA-R + ET-A + hET-AR + + + gene with protein product + + + + Ensembl + ENSG00000151617 + + + Genatlas + EDNRA + + + HGNC + 3179 + + + IUPHAR + 219 + + + OMIM + 131243 + + + Reactome + P25101 + + + SwissProt + P25101 + + + ClinVar + EDNRA + + + + + 4q31.22-q31.23 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 444048 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444048 + 46,XX ovarian dysgenesis-short stature syndrome + + Disease + + + Disorder + + + + 25480036[PMID] + + minichromosome maintenance 9 homologous recombination repair factor + MCM9 + + FLJ20170 + MGC35304 + dJ329L24.3 + + + gene with protein product + + + + Ensembl + ENSG00000111877 + + + Genatlas + MCM9 + + + HGNC + 21484 + + + OMIM + 610098 + + + SwissProt + Q9NXL9 + + + ClinVar + MCM9 + + + + + 6q22.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 444013 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444013 + Combined oxidative phosphorylation defect type 23 + + Disease + + + Disorder + + + + 25434004[PMID] + + GTP binding protein 3, mitochondrial + GTPBP3 + + FLJ14700 + GTPBG3 + MSS1 + MTGP1 + THDF1 + + + gene with protein product + + + + Ensembl + ENSG00000130299 + + + Genatlas + GTPBP3 + + + HGNC + 14880 + + + OMIM + 608536 + + + Reactome + Q969Y2 + + + SwissProt + Q969Y2 + + + ClinVar + GTPBP3 + + + + + 19p13.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 444069 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444069 + Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome + + Malformation syndrome + + + Disorder + + + + 25564561[PMID] + + centromere protein F + CENPF + + hcp-1 + mitosin + + + gene with protein product + + + + Ensembl + ENSG00000117724 + + + Genatlas + CENPF + + + HGNC + 1857 + + + OMIM + 600236 + + + Reactome + P49454 + + + SwissProt + P49454 + + + ClinVar + CENPF + + + + + 1q41 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 444077 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444077 + Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome + + Malformation syndrome + + + Disorder + + + + 25730767[PMID] + + ALF transcription elongation factor 4 + AFF4 + + AF5Q31 + ALL1 fused gene from 5q31 + MCEF + + + gene with protein product + + + + Reactome + Q9UHB7 + + + Ensembl + ENSG00000072364 + + + Genatlas + AFF4 + + + HGNC + 17869 + + + OMIM + 604417 + + + SwissProt + Q9UHB7 + + + ClinVar + AFF4 + + + + + 5q31.1 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 444072 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444072 + Cerebellar-facial-dental syndrome + + Malformation syndrome + + + Disorder + + + + 25561519[PMID] + + BRF1 general transcription factor IIIB subunit + BRF1 + + BRF + TFIIIB90 + hBRF + + + gene with protein product + + + + Reactome + Q92994 + + + SwissProt + Q92994 + + + Ensembl + ENSG00000185024 + + + Genatlas + BRF1 + + + HGNC + 11551 + + + OMIM + 604902 + + + ClinVar + BRF1 + + + + + 14q32.33 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 444463 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444463 + Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency + + Disease + + + Disorder + + + + 25414442[PMID] + + tripeptidyl peptidase 2 + TPP2 + + TPPII + + + gene with protein product + + + + Ensembl + ENSG00000134900 + + + Genatlas + TPP2 + + + HGNC + 12016 + + + IUPHAR + 2423 + + + OMIM + 190470 + + + Reactome + P29144 + + + SwissProt + P29144 + + + ClinVar + TPP2 + + + + + 13q33.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 444458 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444458 + Combined oxidative phosphorylation defect type 24 + + Disease + + + Disorder + + + + 25385316[PMID] + + asparaginyl-tRNA synthetase 2, mitochondrial + NARS2 + + FLJ23441 + SLM5 + asparagine tRNA ligase 2, mitochondrial (putative) + + + gene with protein product + + + + Ensembl + ENSG00000137513 + + + HGNC + 26274 + + + OMIM + 612803 + + + Reactome + Q96I59 + + + SwissProt + Q96I59 + + + + + 11q14.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 445110 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445110 + Limb-girdle muscular dystrophy due to POMK deficiency + + Disease + + + Disorder + + + + 24925318[PMID] + + protein O-mannose kinase + POMK + + FLJ23356 + SGK196 + SgK196 + + + gene with protein product + + + + Ensembl + ENSG00000185900 + + + HGNC + 26267 + + + OMIM + 615247 + + + SwissProt + Q9H5K3 + + + Reactome + Q9H5K3 + + + + + 8p11.21 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 445062 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445062 + Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome + + Disease + + + Disorder + + + + 25466870[PMID] + + DnaJ heat shock protein family (Hsp40) member C3 + DNAJC3 + + p58(IPK) + endoplasmic reticulum DNA J domain-containing protein 6 + interferon-induced, double-stranded RNA-activated protein kinase inhibitor + protein kinase inhibitor of 58 kDa + ERdj6 + HP58 + P58 + P58IPK + + + gene with protein product + + + + Ensembl + ENSG00000102580 + + + Genatlas + DNAJC3 + + + HGNC + 9439 + + + OMIM + 601184 + + + Reactome + Q13217 + + + SwissProt + Q13217 + + + ClinVar + DNAJC3 + + + + + 13q32.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 445038 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445038 + 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome + + Disease + + + Disorder + + + + 25597511[PMID]_25597510[PMID] + + ClpB family mitochondrial disaggregase + CLPB + + FLJ13152 + SKD3 + ankyrin-repeat containing bacterial clp fusion + suppressor of potassium transport defect 3 + ANKCLP + + + gene with protein product + + + + ClinVar + CLPB + + + Ensembl + ENSG00000162129 + + + Genatlas + CLPB + + + HGNC + 30664 + + + OMIM + 616254 + + + SwissProt + Q9H078 + + + + + 11q13.4 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 445018 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445018 + Syndromic autoimmune enteropathy due to LRBA deficiency + + Disease + + + Disorder + + + + 22608502[PMID]_25468195[PMID] + + LPS responsive beige-like anchor protein + LRBA + + BGL + LAB300 + LBA + uc.147 + + + gene with protein product + + + + ClinVar + LRBA + + + SwissProt + P50851 + + + Ensembl + ENSG00000198589 + + + Genatlas + LRBA + + + HGNC + 1742 + + + OMIM + 606453 + + + + + 4q31.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 447731 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447731 + NIK deficiency + + Disease + + + Disorder + + + + 25406581[PMID] + + mitogen-activated protein kinase kinase kinase 14 + MAP3K14 + + FTDCR1B + HS + HSNIK + NIK + serine/threonine protein-kinase + + + gene with protein product + + + + ClinVar + MAP3K14 + + + HGNC + 6853 + + + OMIM + 604655 + + + Genatlas + MAP3K14 + + + SwissProt + Q99558 + + + Reactome + Q99558 + + + Ensembl + ENSG00000006062 + + + IUPHAR + 2074 + + + + + 17q21.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 447737 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447737 + Combined immunodeficiency due to DOCK2 deficiency + + Disease + + + Disorder + + + + 26083206[PMID] + + dedicator of cytokinesis 2 + DOCK2 + + KIAA0209 + + + gene with protein product + + + + SwissProt + Q92608 + + + Reactome + Q92608 + + + Ensembl + ENSG00000134516 + + + ClinVar + DOCK2 + + + HGNC + 2988 + + + OMIM + 603122 + + + Genatlas + DOCK2 + + + + + 5q35.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 447740 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447740 + Aggressive periodontitis + + Disease + + + Disorder + + + + 19722801[PMID] + + formyl peptide receptor 1 + FPR1 + + FMLP + FPR + N-formylpeptide receptor + fMet-Leu-Phe receptor + + + gene with protein product + + + + HGNC + 3826 + + + OMIM + 136537 + + + Genatlas + FPR1 + + + SwissProt + P21462 + + + Reactome + P21462 + + + Ensembl + ENSG00000171051 + + + IUPHAR + 222 + + + ClinVar + FPR1 + + + + + 19q13.41 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 447877 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447877 + Polymerase proofreading-related polyposis + + Disease + + + Disorder + + + + 23263490[PMID] + + DNA polymerase epsilon, catalytic subunit + POLE + + DNA polymerase epsilon catalytic subunit A + POLE1 + + + gene with protein product + + + + ClinVar + POLE + + + OMIM + 174762 + + + Reactome + Q07864 + + + SwissProt + Q07864 + + + Ensembl + ENSG00000177084 + + + Genatlas + POLE + + + HGNC + 9177 + + + + + 12q24.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23263490[PMID] + + DNA polymerase delta 1, catalytic subunit + POLD1 + + CDC2 + CDC2 homolog (S. cerevisiae) + + + gene with protein product + + + + Ensembl + ENSG00000062822 + + + Genatlas + POLD1 + + + HGNC + 9175 + + + OMIM + 174761 + + + Reactome + P28340 + + + SwissProt + P28340 + + + ClinVar + POLD1 + + + + + 19q13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 447896 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447896 + Tremor-ataxia-central hypomyelination syndrome + + Clinical subtype + + + Subtype of disorder + + + + 20640464[PMID] + + RNA polymerase III subunit A + POLR3A + + RPC1 + RPC155 + hRPC155 + C160 + + + gene with protein product + + + + ClinVar + POLR3A + + + Ensembl + ENSG00000148606 + + + Genatlas + POLR3A + + + HGNC + 30074 + + + OMIM + 614258 + + + Reactome + O14802 + + + SwissProt + O14802 + + + + + 10q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 447893 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447893 + Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome + + Clinical subtype + + + Subtype of disorder + + + + 22036171[PMID] + + RNA polymerase III subunit A + POLR3A + + RPC1 + RPC155 + hRPC155 + C160 + + + gene with protein product + + + + ClinVar + POLR3A + + + Ensembl + ENSG00000148606 + + + Genatlas + POLR3A + + + HGNC + 30074 + + + OMIM + 614258 + + + Reactome + O14802 + + + SwissProt + O14802 + + + + + 10q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 447784 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447784 + Mitochondrial pyruvate carrier deficiency + + Disease + + + Disorder + + + + 22628558[PMID] + + mitochondrial pyruvate carrier 1 + MPC1 + + SLC54A1 + CGI-129 + dJ68L15.3 + + + gene with protein product + + + + ClinVar + MPC1 + + + HGNC + 21606 + + + OMIM + 614738 + + + Genatlas + MPC1 + + + SwissProt + Q9Y5U8 + + + Reactome + Q9Y5U8 + + + Ensembl + ENSG00000060762 + + + IUPHAR + 3022 + + + + + 6q27 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 447757 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447757 + Autosomal dominant spastic paraplegia type 9B + + Disease + + + Disorder + + + + 26026163[PMID] + + aldehyde dehydrogenase 18 family member A1 + ALDH18A1 + + P5CS + delta-1-pyrroline-5-carboxylate synthase + + + gene with protein product + + + + HGNC + 9722 + + + OMIM + 138250 + + + Reactome + P54886 + + + SwissProt + P54886 + + + Ensembl + ENSG00000059573 + + + Genatlas + ALDH18A1 + + + ClinVar + ALDH18A1 + + + + + 10q24.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 447753 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447753 + Autosomal dominant spastic paraplegia type 9A + + Disease + + + Disorder + + + + 26026163[PMID]_26297558[PMID] + + aldehyde dehydrogenase 18 family member A1 + ALDH18A1 + + P5CS + delta-1-pyrroline-5-carboxylate synthase + + + gene with protein product + + + + HGNC + 9722 + + + OMIM + 138250 + + + Reactome + P54886 + + + SwissProt + P54886 + + + Ensembl + ENSG00000059573 + + + Genatlas + ALDH18A1 + + + ClinVar + ALDH18A1 + + + + + 10q24.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 447760 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447760 + Autosomal recessive spastic paraplegia type 9B + + Disease + + + Disorder + + + + 26026163[PMID] + + aldehyde dehydrogenase 18 family member A1 + ALDH18A1 + + P5CS + delta-1-pyrroline-5-carboxylate synthase + + + gene with protein product + + + + HGNC + 9722 + + + OMIM + 138250 + + + Reactome + P54886 + + + SwissProt + P54886 + + + Ensembl + ENSG00000059573 + + + Genatlas + ALDH18A1 + + + ClinVar + ALDH18A1 + + + + + 10q24.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 412066 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412066 + PRKAR1B-related neurodegenerative dementia with intermediate filaments + + Disease + + + Disorder + + + + 24722252[PMID]_25108559[PMID] + + protein kinase cAMP-dependent type I regulatory subunit beta + PRKAR1B + + + + gene with protein product + + + + IUPHAR + 1473 + + + OMIM + 176911 + + + Reactome + P31321 + + + SwissProt + P31321 + + + Ensembl + ENSG00000188191 + + + Genatlas + PRKAR1B + + + HGNC + 9390 + + + ClinVar + PRKAR1B + + + + + 7p22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 412057 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412057 + Autosomal recessive cerebellar ataxia due to STUB1 deficiency + + Disease + + + Disorder + + + + 24312598[PMID]_24742043[PMID]_25258038[PMID]_24113144[PMID] + + STIP1 homology and U-box containing protein 1 + STUB1 + + CHIP + HSPABP2 + NY-CO-7 + SDCCAG7 + UBOX1 + + + gene with protein product + + + + IUPHAR + 3202 + + + Ensembl + ENSG00000103266 + + + Genatlas + STUB1 + + + HGNC + 11427 + + + OMIM + 607207 + + + Reactome + Q9UNE7 + + + SwissProt + Q9UNE7 + + + ClinVar + STUB1 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 412181 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412181 + Epidermolysis bullosa simplex due to BP230 deficiency + + Disease + + + Disorder + + + + 22113475[PMID] + + dystonin + DST + + BP240 + BPA + CATX-15 + FLJ13425 + FLJ21489 + FLJ30627 + FLJ32235 + KIAA0728 + MACF2 + + + gene with protein product + + + + Ensembl + ENSG00000151914 + + + Genatlas + DST + + + HGNC + 1090 + + + OMIM + 113810 + + + Reactome + Q03001 + + + SwissProt + Q03001 + + + ClinVar + DST + + + + + 6p12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 412069 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412069 + AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome + + Malformation syndrome + + + Disorder + + + + 24791903[PMID] + + AT-hook DNA binding motif containing 1 + AHDC1 + + DJ159A19.3 + RP1-159A19.1 + + + gene with protein product + + + + Reactome + Q5TGY3 + + + ClinVar + AHDC1 + + + Ensembl + ENSG00000126705 + + + Genatlas + AHDC1 + + + HGNC + 25230 + + + OMIM + 615790 + + + SwissProt + Q5TGY3 + + + + + 1p36.11-p35.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 412189 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412189 + Epidermolysis bullosa simplex due to exophilin 5 deficiency + + Disease + + + Disorder + + + + 23176819[PMID] + + exophilin 5 + EXPH5 + + SLAC2-B + synaptotagmin-like homologue lacking C2 domains b + + + gene with protein product + + + + ClinVar + EXPH5 + + + Ensembl + ENSG00000110723 + + + Genatlas + EXPH5 + + + HGNC + 30578 + + + OMIM + 612878 + + + SwissProt + Q8NEV8 + + + + + 11q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 412206 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412206 + Primary failure of tooth eruption + + Disease + + + Disorder + + + + 19061984[PMID]_23910200[PMID]_20830195[PMID] + + parathyroid hormone 1 receptor + PTH1R + + + + gene with protein product + + + + ClinVar + PTH1R + + + Reactome + Q03431 + + + SwissProt + Q03431 + + + Ensembl + ENSG00000160801 + + + Genatlas + PTH1R + + + HGNC + 9608 + + + IUPHAR + 331 + + + OMIM + 168468 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 420179 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420179 + Malan overgrowth syndrome + + Malformation syndrome + + + Disorder + + + + 20673863[PMID]_22301465[PMID]_25118028[PMID] + + nuclear factor I X + NFIX + + NF1A + CCAAT-binding transcription factor + + + gene with protein product + + + + ClinVar + NFIX + + + Ensembl + ENSG00000008441 + + + Genatlas + NFIX + + + HGNC + 7788 + + + OMIM + 164005 + + + Reactome + Q14938 + + + SwissProt + Q14938 + + + + + 19p13.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 420702 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420702 + Autosomal recessive severe congenital neutropenia due to CSF3R deficiency + + Disease + + + Disorder + + + + 24753537[PMID] + + colony stimulating factor 3 receptor + CSF3R + + G-CSF-R + GCSFR + granulocyte colony-stimulating factor receptor + + + gene with protein product + + + + Reactome + Q99062 + + + Ensembl + ENSG00000119535 + + + Genatlas + CSF3R + + + HGNC + 2439 + + + IUPHAR + 1719 + + + OMIM + 138971 + + + SwissProt + Q99062 + + + ClinVar + CSF3R + + + + + 1p34.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 420728 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420728 + Combined oxidative phosphorylation defect type 20 + + Disease + + + Disorder + + + + 24827421[PMID]_25058219[PMID] + + valyl-tRNA synthetase 2, mitochondrial + VARS2 + + KIAA1885 + valine tRNA ligase 2, mitochondrial + DKFZP434L1435 + G7a + + + gene with protein product + + + + Ensembl + ENSG00000137411 + + + OMIM + 612802 + + + SwissProt + Q5ST30 + + + HGNC + 21642 + + + + + 6p21.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 420733 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420733 + Combined oxidative phosphorylation defect type 21 + + Disease + + + Disorder + + + + 24827421[PMID] + + threonyl-tRNA synthetase 2, mitochondrial + TARS2 + + FLJ12528 + threonine tRNA ligase 2, mitochondrial + + + gene with protein product + + + + Ensembl + ENSG00000143374 + + + HGNC + 30740 + + + OMIM + 612805 + + + Reactome + Q9BW92 + + + SwissProt + Q9BW92 + + + ClinVar + TARS2 + + + Genatlas + TARS2 + + + + + 1q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 420741 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420741 + RIDDLE syndrome + + Malformation syndrome + + + Disorder + + + + 21394101[PMID]_19203578[PMID] + + ring finger protein 168 + RNF168 + + FLJ35794 + + + gene with protein product + + + + Reactome + Q8IYW5 + + + SwissProt + Q8IYW5 + + + Ensembl + ENSG00000163961 + + + Genatlas + RNF168 + + + HGNC + 26661 + + + OMIM + 612688 + + + ClinVar + RNF168 + + + + + 3q29 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 420492 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420492 + Adult-onset cervical dystonia, DYT23 type + + Disease + + + Disorder + + + + 22447717[PMID] + + CDKN1A interacting zinc finger protein 1 + CIZ1 + + LSFR1 + ZNF356 + + + gene with protein product + + + + OMIM + 611420 + + + Ensembl + ENSG00000148337 + + + SwissProt + Q9ULV3 + + + Genatlas + CIZ1 + + + ClinVar + CIZ1 + + + HGNC + 16744 + + + + + 9q34.11 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 420485 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420485 + Cranio-cervical dystonia with laryngeal and upper-limb involvement + + Disease + + + Disorder + + + + 23200863[PMID] + + anoctamin 3 + ANO3 + + DYT23 + GENX-3947 + dystonia 23 + transmembrane protein 16C (eight membrane-spanning domains) + + + gene with protein product + + + + Ensembl + ENSG00000134343 + + + Genatlas + ANO3 + + + HGNC + 14004 + + + OMIM + 610110 + + + Reactome + Q9BYT9 + + + SwissProt + Q9BYT9 + + + ClinVar + ANO3 + + + + + 11p14.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 420429 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420429 + Glycogen storage disease due to acid maltase deficiency, late-onset + + Clinical subtype + + + Subtype of disorder + + + + + + alpha glucosidase + GAA + + Pompe disease + glycogen storage disease type II + lysosomal alpha-glucosidase + + + gene with protein product + + + + ClinVar + GAA + + + Ensembl + ENSG00000171298 + + + Genatlas + GAA + + + HGNC + 4065 + + + IUPHAR + 2611 + + + OMIM + 606800 + + + Reactome + P10253 + + + SwissProt + P10253 + + + + + 17q25.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 420611 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420611 + Transient myeloproliferative syndrome + + Disease + + + Disorder + + + + 14636651[PMID] + + GATA binding protein 1 + GATA1 + + ERYF1 + GATA-1 + NF-E1 + NFE1 + nuclear factor, erythroid 1 + + + gene with protein product + + + + ClinVar + GATA1 + + + Ensembl + ENSG00000102145 + + + Genatlas + GATA1 + + + HGNC + 4170 + + + OMIM + 305371 + + + Reactome + P15976 + + + SwissProt + P15976 + + + + + Xp11.23 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 420584 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420584 + Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome + + Malformation syndrome + + + Disorder + + + + 24744436[PMID] + + GLI family zinc finger 2 + GLI2 + + HPE9 + THP1 + THP2 + tax helper protein 1 + tax helper protein 2 + tax-responsive element-2 holding protein + + + gene with protein product + + + + Ensembl + ENSG00000074047 + + + Genatlas + GLI2 + + + HGNC + 4318 + + + OMIM + 165230 + + + Reactome + P10070 + + + SwissProt + P10070 + + + ClinVar + GLI2 + + + + + 2q14.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 420699 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420699 + Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency + + Disease + + + Disorder + + + + 24777453[PMID] + + C-X-C motif chemokine receptor 2 + CXCR2 + + CD182 + CMKAR2 + + + gene with protein product + + + + ClinVar + CXCR2 + + + Ensembl + ENSG00000180871 + + + Genatlas + CXCR2 + + + HGNC + 6027 + + + IUPHAR + 69 + + + OMIM + 146928 + + + Reactome + P25025 + + + SwissProt + P25025 + + + + + 2q35 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 420686 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420686 + Woolly hair-palmoplantar keratoderma syndrome + + Disease + + + Disorder + + + + 24671081[PMID] + + KN motif and ankyrin repeat domains 2 + KANK2 + + KIAA1518 + SIP + steroid receptor coactivator interacting protein + + + gene with protein product + + + + Reactome + Q63ZY3 + + + ClinVar + KANK2 + + + Ensembl + ENSG00000197256 + + + Genatlas + KANK2 + + + HGNC + 29300 + + + OMIM + 614610 + + + SwissProt + Q63ZY3 + + + + + 19p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 420561 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420561 + Temple-Baraitser syndrome + + Disease + + + Disorder + + + + 25420144[PMID] + + potassium voltage-gated channel subfamily H member 1 + KCNH1 + + Kv10.1 + eag + eag1 + h-eag + hEAG + ether-a-go-go 1 + K(V)10.1 + + + gene with protein product + + + + ClinVar + KCNH1 + + + Ensembl + ENSG00000143473 + + + Genatlas + KCNH1 + + + HGNC + 6250 + + + IUPHAR + 570 + + + OMIM + 603305 + + + Reactome + O95259 + + + SwissProt + O95259 + + + + + 1q32.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 420573 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420573 + Severe combined immunodeficiency due to CTPS1 deficiency + + Disease + + + Disorder + + + + 24870241[PMID] + + CTP synthase 1 + CTPS1 + + GATD5A + GATD5 + + + gene with protein product + + + + IUPHAR + 3215 + + + Genatlas + CTPS1 + + + ClinVar + CTPS1 + + + Ensembl + ENSG00000171793 + + + HGNC + 2519 + + + OMIM + 123860 + + + Reactome + P17812 + + + SwissProt + P17812 + + + + + 1p34.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 420566 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420566 + Bleeding disorder due to CalDAG-GEFI deficiency + + Disease + + + Disorder + + + + 24958846[PMID] + + RAS guanyl releasing protein 2 + RASGRP2 + + CALDAG-GEFI + calcium- and diacylglycerol-regulated guanine nucleotide exchange factor I + + + gene with protein product + + + + ClinVar + RASGRP2 + + + HGNC + 9879 + + + OMIM + 605577 + + + Reactome + Q7LDG7 + + + SwissProt + Q7LDG7 + + + Ensembl + ENSG00000068831 + + + Genatlas + RASGRP2 + + + + + 11q13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 423461 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423461 + Mucolipidosis type III alpha/beta + + Clinical subtype + + + Subtype of disorder + + + + 18425436[PMID] + + N-acetylglucosamine-1-phosphate transferase subunits alpha and beta + GNPTAB + + KIAA1208 + MGC4170 + + + gene with protein product + + + + Reactome + Q3T906 + + + ClinVar + GNPTAB + + + Ensembl + ENSG00000111670 + + + Genatlas + GNPTAB + + + HGNC + 29670 + + + OMIM + 607840 + + + SwissProt + Q3T906 + + + + + 12q23.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 423470 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423470 + Mucolipidosis type III gamma + + Clinical subtype + + + Subtype of disorder + + + + 20034096[PMID]_19708128[PMID] + + N-acetylglucosamine-1-phosphate transferase subunit gamma + GNPTG + + CAB56184 + GlcNAc-phosphotransferase gamma-subunit + c316G12.3 + + + gene with protein product + + + + ClinVar + GNPTG + + + Ensembl + ENSG00000090581 + + + Genatlas + GNPTG + + + HGNC + 23026 + + + OMIM + 607838 + + + SwissProt + Q9UJJ9 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 423454 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423454 + Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome + + Disease + + + Disorder + + + + 25152456[PMID] + + grainyhead like transcription factor 2 + GRHL2 + + BOM + FLJ13782 + brother-of-MGR + + + gene with protein product + + + + Reactome + Q6ISB3 + + + ClinVar + GRHL2 + + + HGNC + 2799 + + + OMIM + 608576 + + + SwissProt + Q6ISB3 + + + Ensembl + ENSG00000083307 + + + Genatlas + GRHL2 + + + + + 8q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 423384 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423384 + Severe congenital neutropenia due to JAGN1 deficiency + + Disease + + + Disorder + + + + 25129144[PMID] + + jagunal vesicle mediated transporter 1 + JAGN1 + + FLJ14602 + GL009 + + + gene with protein product + + + + Reactome + Q8N5M9 + + + ClinVar + JAGN1 + + + Ensembl + ENSG00000171135 + + + Genatlas + JAGN1 + + + HGNC + 26926 + + + OMIM + 616012 + + + SwissProt + Q8N5M9 + + + + + 3p25.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 423296 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423296 + Spinocerebellar ataxia type 38 + + Disease + + + Disorder + + + + 25065913[PMID] + + ELOVL fatty acid elongase 5 + ELOVL5 + + HELO1 + dJ483K16.1 + + + gene with protein product + + + + Ensembl + ENSG00000012660 + + + Genatlas + ELOVL5 + + + HGNC + 21308 + + + OMIM + 611805 + + + Reactome + Q9NYP7 + + + SwissProt + Q9NYP7 + + + ClinVar + ELOVL5 + + + + + 6p12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 423306 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423306 + Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome + + Malformation syndrome + + + Disorder + + + + 28620870[PMID] + + glutaminyl-tRNA synthetase 1 + QARS1 + + glutamine tRNA ligase + + + gene with protein product + + + + ClinVar + QARS + + + Ensembl + ENSG00000172053 + + + Genatlas + QARS + + + HGNC + 9751 + + + OMIM + 603727 + + + Reactome + P47897 + + + SwissProt + P47897 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 423479 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423479 + X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency + + Disease + + + Disorder + + + + 24961627[PMID] + + phosphoribosyl pyrophosphate synthetase 1 + PRPS1 + + PRS I + ribose-phosphate diphosphokinase 1 + CMTX5 + DFNX1 + PRS-I + PPRibP + + + gene with protein product + + + + ClinVar + PRPS1 + + + Ensembl + ENSG00000147224 + + + Genatlas + PRPS1 + + + HGNC + 9462 + + + OMIM + 311850 + + + Reactome + P60891 + + + SwissProt + P60891 + + + + + Xq22.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 422526 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=422526 + Hereditary clear cell renal cell carcinoma + + Disease + + + Disorder + + + + 10987279[PMID] + + 8-oxoguanine DNA glycosylase + OGG1 + + 8-hydroxyguanine DNA glycosylase + HMMH + HOGG1 + MUTM + OGG1 type 1d + OGG1 type 1e + OGG1 type 1g + OGG1 type 1h + OGH1 + + + gene with protein product + + + + SwissProt + O15527 + + + Ensembl + ENSG00000114026 + + + HGNC + 8125 + + + OMIM + 601982 + + + Genatlas + OGG1 + + + Reactome + R-HSA-60887 + + + IUPHAR + 3060 + + + ClinVar + OGG1 + + + + + 3p25.3 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 11912179[PMID]_11996788[PMID] + + solute carrier family 49 member 4 + SLC49A4 + + disrupted in renal cancer protein 2 + FLJ14784 + RCC4 + renal cell carcinoma 4 + + + gene with protein product + + + + SwissProt + Q96SL1 + + + HGNC + 16628 + + + Ensembl + ENSG00000138463 + + + OMIM + 602773 + + + Genatlas + DIRC2 + + + IUPHAR + 1913 + + + ClinVar + DIRC2 + + + + + 3q21.1 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 12471204[PMID] + + folliculin + FLCN + + BHD + MGC17998 + MGC23445 + DENND8B + + + gene with protein product + + + + ClinVar + FLCN + + + Ensembl + ENSG00000154803 + + + Genatlas + FLCN + + + HGNC + 27310 + + + OMIM + 607273 + + + SwissProt + Q8NFG4 + + + + + 17p11.2 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + ring finger protein 139 + RNF139 + + translocation in renal carcinoma, chromosome 8 + HRCA1 + RCA1 + TRC8 + + + gene with protein product + + + + ClinVar + RNF139 + + + Ensembl + ENSG00000170881 + + + Genatlas + RNF139 + + + HGNC + 17023 + + + OMIM + 603046 + + + SwissProt + Q8WU17 + + + Reactome + Q8WU17 + + + + + 8q24.13 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + fragile histidine triad diadenosine triphosphatase + FHIT + + AP3Aase + FRA3B + bis(5'-adenosyl)-triphosphatase + + + gene with protein product + + + + ClinVar + FHIT + + + Ensembl + ENSG00000189283 + + + Genatlas + FHIT + + + HGNC + 3701 + + + OMIM + 601153 + + + SwissProt + P49789 + + + Reactome + P49789 + + + + + 3p14.2 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 12939738[PMID] + + HSPB1 associated protein 1 + HSPBAP1 + + FLJ22623 + PASS1 + + + gene with protein product + + + + ClinVar + HSPBAP1 + + + SwissProt + Q96EW2 + + + Ensembl + ENSG00000169087 + + + Genatlas + HSPBAP1 + + + HGNC + 16389 + + + OMIM + 608263 + + + + + 3q21.1 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 12939738[PMID] + + disrupted in renal carcinoma 3 + DIRC3 + + FLJ14199 + + + Non-coding RNA + + + + ClinVar + DIRC3 + + + Ensembl + ENSG00000231672 + + + Genatlas + DIRC3 + + + HGNC + 17805 + + + OMIM + 608262 + + + SwissProt + C9JPN6 + + + + + 2q35 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 423275 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423275 + Spinocerebellar ataxia type 40 + + Disease + + + Disorder + + + + 25062847[PMID] + + coiled-coil and HOOK domain protein 88C + CCDC88C + + DAPLE + Dvl-associating protein with a high frequency of leucine residues + HkRP2 + SCA40 + spinocerebellar ataxia 40 + + + gene with protein product + + + + HGNC + 19967 + + + OMIM + 611204 + + + Reactome + Q9P219 + + + SwissProt + Q9P219 + + + Ensembl + ENSG00000015133 + + + Genatlas + CCDC88C + + + ClinVar + CCDC88C + + + + + 14q32.11-q32.12 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 424107 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424107 + Congenital myopathy with myasthenic-like onset + + Disease + + + Disorder + + + + 24951453[PMID] + + ryanodine receptor 1 + RYR1 + + PPP1R137 + RYR + protein phosphatase 1, regulatory subunit 137 + + + gene with protein product + + + + ClinVar + RYR1 + + + Ensembl + ENSG00000196218 + + + Genatlas + RYR1 + + + HGNC + 10483 + + + IUPHAR + 747 + + + OMIM + 180901 + + + Reactome + P21817 + + + SwissProt + P21817 + + + + + 19q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 424099 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424099 + Colobomatous microphthalmia-rhizomelic dysplasia syndrome + + Malformation syndrome + + + Disorder + + + + 24906020[PMID] + + mab-21 like 2 + MAB21L2 + + + + gene with protein product + + + + ClinVar + MAB21L2 + + + Ensembl + ENSG00000181541 + + + Genatlas + MAB21L2 + + + HGNC + 6758 + + + OMIM + 604357 + + + SwissProt + Q9Y586 + + + Reactome + Q9Y586 + + + + + 4q31.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 424261 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424261 + TOR1AIP1-related limb-girdle muscular dystrophy + + Disease + + + Disorder + + + + 24856141[PMID] + + torsin 1A interacting protein 1 + TOR1AIP1 + + FLJ13142 + LAP1B + lamina associated polypeptide 1B + LAP1C + LAP1 + + + gene with protein product + + + + Ensembl + ENSG00000143337 + + + HGNC + 29456 + + + OMIM + 614512 + + + SwissProt + Q5JTV8 + + + Reactome + Q5JTV8 + + + + + 1q25.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 424027 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424027 + Progressive myoclonic epilepsy type 8 + + Disease + + + Disorder + + + + 24782409[PMID] + + ceramide synthase 1 + CERS1 + + LAG1 + UOG1 + + + gene with protein product + + + + ClinVar + LASS1 + + + Ensembl + ENSG00000223802 + + + Genatlas + LASS1 + + + HGNC + 14253 + + + IUPHAR + 2474 + + + OMIM + 606919 + + + Reactome + P27544 + + + SwissProt + P27544 + + + + + 19p13.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 423894 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423894 + Microcephaly-complex motor and sensory axonal neuropathy syndrome + + Disease + + + Disorder + + + + 24126608[PMID] + + VRK serine/threonine kinase 1 + VRK1 + + + + gene with protein product + + + + Ensembl + ENSG00000100749 + + + Genatlas + VRK1 + + + HGNC + 12718 + + + IUPHAR + 2275 + + + OMIM + 602168 + + + Reactome + Q99986 + + + SwissProt + Q99986 + + + ClinVar + VRK1 + + + + + 14q32.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 425120 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425120 + STING-associated vasculopathy with onset in infancy + + Disease + + + Disorder + + + + 25029335[PMID] + + stimulator of interferon response cGAMP interactor 1 + STING1 + + MITA + MPYS + stimulator of interferon genes + endoplasmic reticulum IFN stimulator + STING + ERIS + FLJ38577 + NET23 + + + gene with protein product + + + + Ensembl + ENSG00000184584 + + + Genatlas + TMEM173 + + + HGNC + 27962 + + + OMIM + 612374 + + + Reactome + Q86WV6 + + + SwissProt + Q86WV6 + + + IUPHAR + 2902 + + + ClinVar + TMEM173 + + + + + 5q31.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 431361 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431361 + Progressive encephalopathy with leukodystrophy due to DECR deficiency + + Disease + + + Disorder + + + + 24847004[PMID] + + NAD kinase 2, mitochondrial + NADK2 + + FLJ30596 + MNADK + mitochondrial NAD kinase + + + gene with protein product + + + + Ensembl + ENSG00000152620 + + + HGNC + 26404 + + + OMIM + 615787 + + + SwissProt + Q4G0N4 + + + Reactome + Q4G0N4 + + + + + 5p13.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 431272 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431272 + X-linked scapuloperoneal muscular dystrophy + + Disease + + + Disorder + + + + 18179901[PMID] + + four and a half LIM domains 1 + FHL1 + + FHL1B + FLH1A + Four-and-a-half LIM domains 1 + KYO-T + LIM protein SLIMMER + MGC111107 + SLIM1 + XMPMA + bA535K18.1 + + + gene with protein product + + + + Ensembl + ENSG00000022267 + + + Genatlas + FHL1 + + + HGNC + 3702 + + + OMIM + 300163 + + + SwissProt + Q13642 + + + ClinVar + FHL1 + + + Reactome + Q13642 + + + + + Xq26.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 431329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431329 + Autosomal recessive spastic paraplegia type 57 + + Disease + + + Disorder + + + + 23479643[PMID] + + trafficking from ER to golgi regulator + TFG + + FLJ36137 + SPG57 + TF6 + + + gene with protein product + + + + ClinVar + TFG + + + Ensembl + ENSG00000114354 + + + Genatlas + TFG + + + HGNC + 11758 + + + OMIM + 602498 + + + Reactome + Q92734 + + + SwissProt + Q92734 + + + + + 3q12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 431255 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431255 + Scapuloperoneal spinal muscular atrophy + + Disease + + + Disorder + + + + 20037587[PMID] + + transient receptor potential cation channel subfamily V member 4 + TRPV4 + + CMT2C + OTRPC4 + TRP12 + VR-OAC + VRL-2 + VROAC + osmosensitive transient receptor potential channel 4 + + + gene with protein product + + + + Ensembl + ENSG00000111199 + + + Genatlas + TRPV4 + + + HGNC + 18083 + + + IUPHAR + 510 + + + OMIM + 605427 + + + Reactome + Q9HBA0 + + + SwissProt + Q9HBA0 + + + ClinVar + TRPV4 + + + + + 12q24.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 431149 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431149 + Combined immunodeficiency due to OX40 deficiency + + Disease + + + Disorder + + + + 23897980[PMID] + + TNF receptor superfamily member 4 + TNFRSF4 + + ACT35 + CD134 + OX40 + + + gene with protein product + + + + Ensembl + ENSG00000186827 + + + Genatlas + TNFRSF4 + + + HGNC + 11918 + + + IUPHAR + 1873 + + + OMIM + 600315 + + + Reactome + P43489 + + + SwissProt + P43489 + + + ClinVar + TNFRSF4 + + + + + 1p36.33 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 431166 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431166 + Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection + + Disease + + + Disorder + + + + 26424569[PMID] + + interferon alpha and beta receptor subunit 2 + IFNAR2 + + IFNalpha/beta receptor subunit 2 + type I interferon receptor 2 + interferon alpha/beta receptor 2 + + + gene with protein product + + + + Genatlas + IFNAR2 + + + HGNC + 5433 + + + Ensembl + ENSG00000159110 + + + Reactome + P48551 + + + ClinVar + IFNAR2 + + + IUPHAR + 1724 + + + OMIM + 602376 + + + SwissProt + P48551 + + + + + 21q22.11 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 23391734[PMID] + + signal transducer and activator of transcription 2 + STAT2 + + STAT113 + + + gene with protein product + + + + ClinVar + STAT2 + + + Ensembl + ENSG00000170581 + + + Genatlas + STAT2 + + + HGNC + 11363 + + + OMIM + 600556 + + + Reactome + P52630 + + + SwissProt + P52630 + + + + + 12q13.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 435438 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435438 + Progressive myoclonic epilepsy type 7 + + Disease + + + Disorder + + + + 25401298[PMID] + + potassium voltage-gated channel subfamily C member 1 + KCNC1 + + Kv3.1 + + + gene with protein product + + + + IUPHAR + 548 + + + OMIM + 176258 + + + Reactome + P48547 + + + SwissProt + P48547 + + + ClinVar + KCNC1 + + + Ensembl + ENSG00000129159 + + + Genatlas + KCNC1 + + + HGNC + 6233 + + + + + 11p15.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 435387 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435387 + Autosomal dominant Charcot-Marie-Tooth disease type 2Y + + Disease + + + Disorder + + + + 25125609[PMID] + + valosin containing protein + VCP + + CDC48 + p97 + IBMPFD + TERA + transitional endoplasmic reticulum ATPase + + + gene with protein product + + + + ClinVar + VCP + + + Ensembl + ENSG00000165280 + + + Genatlas + VCP + + + HGNC + 12666 + + + OMIM + 601023 + + + Reactome + P55072 + + + SwissProt + P55072 + + + + + 9p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 434179 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179 + Orofaciodigital syndrome type 14 + + Malformation syndrome + + + Disorder + + + + 24997988[PMID] + + C2 domain containing 3 centriole elongation regulator + C2CD3 + + DKFZP586P0123 + + + gene with protein product + + + + Ensembl + ENSG00000168014 + + + Genatlas + C2CD3 + + + HGNC + 24564 + + + OMIM + 615944 + + + Reactome + Q4AC94 + + + SwissProt + Q4AC94 + + + ClinVar + C2CD3 + + + + + 11q13.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 504476 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504476 + Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome + + Disease + + + Disorder + + + + 30926972[PMID] + + replication factor C subunit 1 + RFC1 + + A1 + PO-GA + RFC140 + MHCBFB + + + gene with protein product + + + + HGNC + 9969 + + + Ensembl + ENSG00000035928 + + + SwissProt + P35251 + + + Reactome + P35251 + + + OMIM + 102579 + + + + + 4p14 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 504523 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504523 + Severe combined immunodeficiency due to LAT deficiency + + Disease + + + Disorder + + + + 27522155[PMID] + + linker for activation of T cells + LAT + + LAT1 + linker for activation of T cells, transmembrane adaptor + + + gene with protein product + + + + HGNC + 18874 + + + Ensembl + ENSG00000213658 + + + SwissProt + O43561 + + + OMIM + 602354 + + + Genatlas + LAT + + + Reactome + O43561 + + + ClinVar + LAT + + + + + 16p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 504530 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504530 + Combined immunodeficiency due to Moesin deficiency + + Disease + + + Disorder + + + + 27405666[PMID] + + moesin + MSN + + + + gene with protein product + + + + OMIM + 309845 + + + HGNC + 7373 + + + Reactome + P26038 + + + Genatlas + MSN + + + Ensembl + ENSG00000147065 + + + ClinVar + MSN + + + SwissProt + P26038 + + + + + Xq12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 26793 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26793 + Very long chain acyl-CoA dehydrogenase deficiency + + Disease + + + Disorder + + + + 20301763[PMID] + + acyl-CoA dehydrogenase very long chain + ACADVL + + ACAD6 + LCACD + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 + Muscle-eye-brain disease + + Malformation syndrome + + + Disorder + + + + 35863218[PMID]_33816389[PMID] + + CDP-L-ribitol pyrophosphorylase A + CRPPA + + 4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis) + IspD + Nip + Notch1-induced protein + hCG_1745121 + D-ribitol-5-phosphate cytidylyltransferase + notch1-induced protein + + + gene with protein product + + + + ClinVar + ISPD + + + OMIM + 614631 + + + SwissProt + A4D126 + + + Ensembl + ENSG00000214960 + + + Genatlas + ISPD + + + HGNC + 37276 + + + + + 7p21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 19067344[PMID] + + LARGE xylosyl- and glucuronyltransferase 1 + LARGE1 + + like-acetylglucosaminyltransferase + KIAA0609 + + + gene with protein product + + + + Reactome + O95461 + + + ClinVar + LARGE + + + Ensembl + ENSG00000133424 + + + Genatlas + LARGE + + + HGNC + 6511 + + + OMIM + 603590 + + + SwissProt + 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Q8NAT1 + + + Ensembl + ENSG00000144647 + + + Genatlas + POMGNT2 + + + Reactome + Q8NAT1 + + + + + 3p22.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 23217329[PMID]_23519211[PMID] + + ribitol xylosyltransferase 1 + RXYLT1 + + HP10481 + + + gene with protein product + + + + Ensembl + ENSG00000118600 + + + Genatlas + TMEM5 + + + HGNC + 13530 + + + OMIM + 605862 + + + SwissProt + Q9Y2B1 + + + ClinVar + TMEM5 + + + Reactome + Q9Y2B1 + + + + + 12q14.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 23453667[PMID] + + beta-1,3-N-acetylgalactosaminyltransferase 2 + B3GALNT2 + + MGC39558 + + + gene with protein product + + + + ClinVar + B3GALNT2 + + + Reactome + Q8NCR0 + + + Ensembl + ENSG00000162885 + + + Genatlas + B3GALNT2 + + + HGNC + 28596 + + + OMIM + 610194 + + + SwissProt + Q8NCR0 + + + + + 1q42.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 23359570[PMID] + + beta-1,4-glucuronyltransferase 1 + B4GAT1 + + B3GN-T1 + BETA3GNTI + N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase + iGAT + iGNT + iGnT + IGnT + + + gene with protein product + + + + ClinVar + B3GNT1 + + + Ensembl + ENSG00000174684 + + + Genatlas + B3GNT1 + + + HGNC + 15685 + + + OMIM + 605517 + + + Reactome + O43505 + + + SwissProt + O43505 + + + + + 11q13.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 23519211[PMID] + + protein O-mannose kinase + POMK + + FLJ23356 + SGK196 + SgK196 + + + gene with protein product + + + + Ensembl + ENSG00000185900 + + + HGNC + 26267 + + + OMIM + 615247 + + + SwissProt + Q9H5K3 + + + Reactome + Q9H5K3 + + + + + 8p11.21 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 505216 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505216 + 3-methylglutaconic aciduria type 9 + + Disease + + + Disorder + + + + 27573165[PMID] + + translocase of inner mitochondrial membrane 50 + TIMM50 + + TIM50L + TIM50 + + + gene with protein product + + + + HGNC + 23656 + + + Ensembl + ENSG00000105197 + + + SwissProt + Q3ZCQ8 + + + Genatlas + TIMM50 + + + OMIM + 607381 + + + Reactome + Q3ZCQ8 + + + ClinVar + TIMM50 + + + + + 19q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 272 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272 + Congenital muscular dystrophy, Fukuyama type + + Malformation syndrome + + + Disorder + + + + 20301385[PMID] + + fukutin + FKTN + + LGMD2M + Ribitol-5-phosphate transferase + + + gene with protein product + + + + ClinVar + FKTN + + + Ensembl + ENSG00000106692 + + + Genatlas + FKTN + + + HGNC + 3622 + + + OMIM + 607440 + + + SwissProt + O75072 + + + + + 9q31.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 505208 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505208 + 3-methylglutaconic aciduria type 8 + + Disease + + + Disorder + + + + 27208207[PMID]_27696117[PMID] + + HtrA serine peptidase 2 + HTRA2 + + OMI + PARK13 + + + gene with protein product + + + + Reactome + O43464 + + + ClinVar + HTRA2 + + + Ensembl + ENSG00000115317 + + + Genatlas + HTRA2 + + + HGNC + 14348 + + + OMIM + 606441 + + + SwissProt + O43464 + + + + + 2p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 268 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268 + Dysferlin-related limb-girdle muscular dystrophy R2 + + Disease + + + Disorder + + + + 20301582[PMID] + + dysferlin + DYSF + + FER1L1 + fer-1-like family member 1 + + + gene with protein product + + + + Ensembl + ENSG00000135636 + + + Genatlas + DYSF + + + HGNC + 3097 + + + OMIM + 603009 + + + Reactome + O75923 + + + SwissProt + O75923 + + + ClinVar + DYSF + + + + + 2p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 600 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600 + Vocal cord and pharyngeal distal myopathy + + Disease + + + Disorder + + + + 19344878[PMID] + + matrin 3 + MATR3 + + KIAA0723 + MGC9105 + VCPDM + + + gene with protein product + + + + ClinVar + MATR3 + + + Reactome + P43243 + + + Ensembl + ENSG00000015479 + + + Genatlas + MATR3 + + + HGNC + 6912 + + + OMIM + 164015 + + + SwissProt + P43243 + + + + + 5q31.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 505248 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505248 + Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders + + Malformation syndrome + + + Disorder + + + + 28013294[PMID] + + VPS33A core subunit of CORVET and HOPS complexes + VPS33A + + + + gene with protein product + + + + HGNC + 18179 + + + Ensembl + ENSG00000139719 + + + SwissProt + Q96AX1 + + + OMIM + 610034 + + + Genatlas + VPS33A + + + ClinVar + VPS33A + + + + + 12q24.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 609 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=609 + Tibial muscular dystrophy + + Disease + + + Disorder + + + + 20301498[PMID] + + titin + TTN + + CMH9 + CMPD4 + FLJ32040 + LGMD2J + MYLK5 + TMD + + + gene with protein product + + + + Reactome + Q8WZ42 + + + SwissProt + Q8WZ42 + + + ClinVar + TTN + + + Ensembl + ENSG00000155657 + + + Genatlas + TTN + + + HGNC + 12403 + + + IUPHAR + 2265 + + + OMIM + 188840 + + + + + 2q31.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 602 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=602 + GNE myopathy + + Disease + + + Disorder + + + + 11916006[PMID]_20301439[PMID] + + glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase + GNE + + Uae1 + bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase + + + gene with protein product + + + + ClinVar + GNE + + + Ensembl 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Disorder + + + + 27817865[PMID] + + mitochondrial trans-2-enoyl-CoA reductase + MECR + + CGI-63 + ETR1 + FASN2B + mitochondrial 2-enoyl thioester reductase + NRBF1 + nuclear receptor binding factor 1 + + + gene with protein product + + + + HGNC + 19691 + + + Ensembl + ENSG00000116353 + + + OMIM + 608205 + + + SwissProt + Q9BV79 + + + Genatlas + MECR + + + Reactome + Q9BV79 + + + ClinVar + MECR + + + + + 1p35.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 508533 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508533 + Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome + + Disease + + + Disorder + + + + 28132690[PMID]_28148688[PMID] + + exostosin like glycosyltransferase 3 + EXTL3 + + botv + glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase + REG receptor + REGR + + + gene with protein product + + + + ClinVar + EXTL3 + + + OMIM + 605744 + + + Genatlas + EXTL3 + + + HGNC + 3518 + + + Ensembl + ENSG00000012232 + + + SwissProt + O43909 + + + Reactome + O43909 + + + + + 8p21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 508542 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508542 + Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome + + Disease + + + Disorder + + + + 28115216[PMID] + + Myb like, SWIRM and MPN domains 1 + MYSM1 + + KIAA1915 + + + gene with protein product + + + + Reactome + Q5VVJ2 + + + OMIM + 612176 + + + HGNC + 29401 + + + Genatlas + MYSM1 + + + ClinVar + MYSM1 + + + Ensembl + ENSG00000162601 + + + SwissProt + Q5VVJ2 + + + + + 1p32.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 508512 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508512 + Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome + + Disease + + + Disorder + + + + 27977684[PMID] + + RecQ mediated genome instability 2 + RMI2 + + BLAP18 + MGC24665 + + + gene with protein product + + + + HGNC + 28349 + + + Ensembl + ENSG00000175643 + + + SwissProt + Q96E14 + + + OMIM + 612426 + + + Genatlas + RMI2 + + + Reactome + Q96E14 + + + ClinVar + RMI2 + + + + + 16p13.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 30057030[PMID] + + DNA topoisomerase III alpha + TOP3A + + ZGRF7 + zinc finger, GRF-type containing 7 + + + gene with protein product + + + + ClinVar + TOP3A + + + Genatlas + TOP3A + + + Reactome + Q13472 + + + HGNC + 11992 + + + Ensembl + ENSG00000177302 + + + SwissProt + Q13472 + + + OMIM + 601243 + + + + + 17p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 508529 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508529 + Intermediate epidermolysis bullosa simplex with cardiomyopathy + + Disease + + + Disorder + + + + 27889062[PMID]_27798626[PMID]_28532758[PMID]_29574966[PMID] + + kelch like family member 24 + KLHL24 + + DRE1 + FLJ20059 + KRIP6 + + + gene with protein product + + + + ClinVar + KLHL24 + + + HGNC + 25947 + + + Ensembl + ENSG00000114796 + + + SwissProt + Q6TFL4 + + + OMIM + 611295 + + + Genatlas + KLHL24 + + + Reactome + Q6TFL4 + + + + + 3q27.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 508523 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508523 + Hyperphenylalaninemia due to DNAJC12 deficiency + + Disease + + + Disorder + + + + 28132689[PMID] + + DnaJ heat shock protein family (Hsp40) member C12 + DNAJC12 + + J domain protein 1 + JDP1 + + + gene with protein product + + + + ClinVar + DNAJC12 + + + HGNC + 28908 + + + Ensembl + ENSG00000108176 + + + SwissProt + Q9UKB3 + + + OMIM + 606060 + + + Genatlas + DNAJC12 + + + + + 10q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 508488 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508488 + 8q24.3 microdeletion syndrome + + Malformation syndrome + + + Disorder + + + + 27804958[PMID] + + poly(U) binding splicing factor 60 + PUF60 + + SIAHBP1 + FIR + RoBPI + Ro ribonucleoprotein binding protein 1 + pyrimidine tract binding splicing factor + siah binding protein 1 + FBP interacting repressor + + + gene with protein product + + + + SwissProt + Q9UHX1 + + + Ensembl + ENSG00000179950 + + + ClinVar + PUF60 + + + Reactome + Q9UHX1 + + + HGNC + 17042 + + + Genatlas + PUF60 + + + OMIM + 604819 + + + + + 8q24.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 508476 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508476 + Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome + + Malformation syndrome + + + Disorder + + + + 28081210[PMID] + + hyaluronidase 2 + HYAL2 + + LuCa-2 + LUCA2 + lysosomal hyaluronidase + PH-20 homolog + + + gene with protein product + + + + ClinVar + HYAL2 + + + HGNC + 5321 + + + Ensembl + ENSG00000068001 + + + SwissProt + Q12891 + + + OMIM + 603551 + + + Genatlas + HYAL2 + + + Reactome + Q12891 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Not yet assessed + + + + + + 508501 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508501 + Orofaciodigital syndrome type 18 + + Malformation syndrome + + + Disorder + + + + 27060890[PMID] + + intraflagellar transport 57 + IFT57 + + MHS4R2 + HIPPI + FLJ10147 + + + gene with protein product + + + + Genatlas + IFT57 + + + HGNC + 17367 + + + Reactome + Q9NWB7 + + + ClinVar + IFT57 + + + Ensembl + ENSG00000114446 + + + OMIM + 606621 + + + SwissProt + Q9NWB7 + + + + + 3q13.12-q13.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 508498 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508498 + Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome + + Malformation syndrome + + + Disorder + + + + 27804958[PMID]_28327570[PMID] + + poly(U) binding splicing factor 60 + PUF60 + + SIAHBP1 + FIR + RoBPI + Ro ribonucleoprotein binding protein 1 + pyrimidine tract binding splicing factor + siah binding protein 1 + FBP interacting repressor + + + gene with protein product + + + + SwissProt + Q9UHX1 + + + Ensembl + ENSG00000179950 + + + ClinVar + PUF60 + + + Reactome + Q9UHX1 + + + HGNC + 17042 + + + Genatlas + PUF60 + + + OMIM + 604819 + + + + + 8q24.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 505652 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505652 + CDKL5-deficiency disorder + + Disease + + + Disorder + + + + 22872100[PMID] + + cyclin dependent kinase like 5 + CDKL5 + + CFAP247 + EIEE2 + + + gene with protein product + + + + Reactome + O76039 + + + SwissProt + O76039 + + + Ensembl + ENSG00000008086 + + + Genatlas + CDKL5 + + + HGNC + 11411 + + + IUPHAR + 1986 + + + OMIM + 300203 + + + ClinVar + CDKL5 + + + + + Xp22.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 506334 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506334 + Familial steroid-resistant nephrotic syndrome with adrenal insufficiency + + Disease + + + Disorder + + + + 28181337[PMID]_24777844[PMID]_28218265[PMID] + + sphingosine-1-phosphate lyase 1 + SGPL1 + + SPL + + + gene with protein product + + + + SwissProt + O95470 + + + OMIM + 603729 + + + Genatlas + SGPL1 + + + Reactome + O95470 + + + IUPHAR + 2522 + + + ClinVar + SGPL1 + + + HGNC + 10817 + + + Ensembl + ENSG00000166224 + + + + + 10q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 506307 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506307 + Stromme syndrome + + Malformation syndrome + + + Disorder + + + + 25564561[PMID]_26820108[PMID] + + centromere protein F + CENPF + + hcp-1 + mitosin + + + gene with protein product + + + + Ensembl + ENSG00000117724 + + + Genatlas + CENPF + + + HGNC + 1857 + + + OMIM + 600236 + + + Reactome + P49454 + + + SwissProt + P49454 + + + ClinVar + CENPF + + + + + 1q41 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 506358 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506358 + Gabriele-de Vries syndrome + + Malformation syndrome + + + Disorder + + + + 28575647[PMID] + + YY1 transcription factor + YY1 + + INO80S + UCRBP + YIN-YANG-1 + NF-E1 + DELTA + Yin and Yang 1 protein + INO80 complex subunit S + + + gene with protein product + + + + HGNC + 12856 + + + SwissProt + P25490 + + + OMIM + 600013 + + + ClinVar + YY1 + + + Ensembl + ENSG00000100811 + + + Reactome + P25490 + + + Genatlas + YY1 + + + + + 14q32.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 506353 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506353 + Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495844 + C11ORF73-related autosomal recessive hypomyelinating leukodystrophy + + Disease + + + Disorder + + + + 26545878[PMID]_28000699[PMID] + + heat shock protein nuclear import factor hikeshi + HIKESHI + + HSPC179 + OPI10 + HSPC138 + + + gene with protein product + + + + Reactome + Q53FT3 + + + HGNC + 26938 + + + SwissProt + Q53FT3 + + + Ensembl + ENSG00000149196 + + + OMIM + 614908 + + + ClinVar + HIKESHI + + + Genatlas + HIKESHI + + + + + 11q14.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 495818 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495818 + 9q33.3q34.11 microdeletion syndrome + + Malformation syndrome + + + Disorder + + + + 26395556[PMID] + + LIM homeobox transcription factor 1 beta + LMX1B + + + + gene with protein product + + + + ClinVar + LMX1B + + + Ensembl + ENSG00000136944 + + + Genatlas + LMX1B + + + HGNC + 6654 + + + OMIM + 602575 + + + SwissProt + O60663 + + + + + 9q33.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 26395556[PMID] + + syntaxin binding protein 1 + STXBP1 + + nSec1 + MUNC18-1 + UNC18 + hUNC18 + rbSec1 + syntaxin-binding protein 1 + + + gene with protein product + + + + ClinVar + STXBP1 + + + Ensembl + ENSG00000136854 + + + Genatlas + STXBP1 + + + HGNC + 11444 + + + OMIM + 602926 + + + Reactome + P61764 + + + SwissProt + P61764 + + + + + 9q34.11 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 495875 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495875 + Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome + + Malformation syndrome + + + Disorder + + + + 30487245[PMID] + + mab-21 like 1 + MAB21L1 + + CAGR1 + + + gene with protein product + + + + HGNC + 6757 + + + Ensembl + ENSG00000180660 + + + OMIM + 601280 + + + SwissProt + Q13394 + + + + + 13q13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 496641 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496641 + Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome + + Malformation syndrome + + + Disorder + + + + 27807845[PMID]_27666374[PMID]_27666370[PMID] + + tubulin folding cofactor D + TBCD + + + + gene with protein product + + + + Genatlas + TBCD + + + OMIM + 604649 + + + SwissProt + Q9BTW9 + + + Reactome + Q9BTW9 + + + HGNC + 11581 + + + ClinVar + TBCD + + + Ensembl + ENSG00000141556 + + + + + 17q25.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 496686 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496686 + Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome + + Disease + + + Disorder + + + + 27484770[PMID]_27485408[PMID] + + kyphoscoliosis peptidase + KY + + FLJ33207 + + + gene with protein product + + + + ClinVar + KY + + + HGNC + 26576 + + + Ensembl + ENSG00000174611 + + + SwissProt + Q8NBH2 + + + OMIM + 605739 + + + Genatlas + KY + + + + + 3q22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 496689 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496689 + Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome + + Disease + + + Disorder + + + + 28488683[PMID] + + kyphoscoliosis peptidase + KY + + FLJ33207 + + + gene with protein product + + + + ClinVar + KY + + + HGNC + 26576 + + + Ensembl + ENSG00000174611 + + + SwissProt + Q8NBH2 + + + OMIM + 605739 + + + Genatlas + KY + + + + + 3q22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 496751 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496751 + EVEN-plus syndrome + + Malformation syndrome + + + Disorder + + + + 26598328[PMID]_10424819[PMID] + + heat shock protein family A (Hsp70) member 9 + HSPA9 + + GRP75 + PBP74 + mortalin2 + mot-2 + mthsp75 + 75 kDa glucose-regulated protein + Stress-70 protein, mitochondrial + mortalin + + + gene with protein product + + + + Genatlas + HSPA9 + + + HGNC + 5244 + + + OMIM + 600548 + + + Reactome + P38646 + + + SwissProt + P38646 + + + Ensembl + ENSG00000113013 + + + ClinVar + HSPA9 + + + + + 5q31.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 496756 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496756 + Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome + + Disease + + + Disorder + + + + 27666369[PMID] + + tubulin folding cofactor E + TBCE + + KCS1 + pac2 + + + gene with protein product + + + + HGNC + 11582 + + + OMIM + 604934 + + + Reactome + Q15813 + + + SwissProt + Q15813 + + + Genatlas + TBCE + + + Ensembl + ENSG00000284770 + + + ClinVar + TBCE + + + + + 1q42.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 496790 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496790 + Ocular anomalies-axonal neuropathy-developmental delay syndrome + + Disease + + + Disorder + + + + 27640307[PMID] + + ATPase family AAA domain containing 3A + ATAD3A + + FLJ10709 + + + gene with protein product + + + + Genatlas + ATAD3A + + + Ensembl + ENSG00000197785 + + + ClinVar + ATAD3A + + + Reactome + Q9NVI7 + + + OMIM + 612316 + + + HGNC + 25567 + + + SwissProt + Q9NVI7 + + + + + 1p36.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 494433 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494433 + MIRAGE syndrome + + Disease + + + Disorder + + + + 27182967[PMID] + + sterile alpha motif domain containing 9 + SAMD9 + + FLJ20073 + KIAA2004 + + + gene with protein product + + + + ClinVar + SAMD9 + + + Ensembl + ENSG00000205413 + + + Genatlas + SAMD9 + + + HGNC + 1348 + + + OMIM + 610456 + + + SwissProt + Q5K651 + + + + + 7q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 494439 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494439 + Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome + + Malformation syndrome + + + Disorder + + + + 26843489[PMID] + + exosome component 2 + EXOSC2 + + homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4) + hRrp4p + p7 + RRP4 + Rrp4p + + + gene with protein product + + + + ClinVar + EXOSC2 + + + HGNC + 17097 + + + Ensembl + ENSG00000130713 + + + SwissProt + Q13868 + + + OMIM + 602238 + + + Genatlas + EXOSC2 + + + Reactome + Q13868 + + + + + 9q34.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 494444 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494444 + DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome + + Disease + + + Disorder + + + + 26912466[PMID]_27808407[PMID] + + diaphanous related formin 1 + DIAPH1 + + LFHL1 + hDIA1 + mDia1 + mammalian diaphanous related formin 1 + + + gene with protein product + + + + Ensembl + ENSG00000131504 + + + Genatlas + DIAPH1 + + + HGNC + 2876 + + + OMIM + 602121 + + + Reactome + O60610 + + + SwissProt + O60610 + + + ClinVar + DIAPH1 + + + + + 5q31.3 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 494344 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494344 + RERE-related neurodevelopmental syndrome + + Malformation syndrome + + + Disorder + + + + 27087320[PMID] + + arginine-glutamic acid dipeptide repeats + RERE + + ARG + atrophin 2 + ATN2 + ARP + DNB1 + KIAA0458 + + + gene with protein product + + + + Reactome + Q9P2R6 + + + HGNC + 9965 + + + OMIM + 605226 + + + ClinVar + RERE + + + Genatlas + RERE + + + SwissProt + Q9P2R6 + + + Ensembl + ENSG00000142599 + + + + + 1p36.23 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 494547 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494547 + Squamous cell carcinoma of the hypopharynx + + Disease + + + Disorder + + + + 9721831[PMID] + + TNF receptor superfamily member 10b + TNFRSF10B + + CD262 + DR5 + KILLER + TRAIL-R2 + TRICK2A + TRICKB + TRAILR2 + + + gene with protein product + + + + Genatlas + TNFRSF10B + + + HGNC + 11905 + + + SwissProt + O14763 + + + Reactome + O14763 + + + IUPHAR + 1880 + + + Ensembl + ENSG00000120889 + + + OMIM + 603612 + + + ClinVar + TNFRSF10B + + + + + 8p21.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 11801303[PMID] + + phosphatase and tensin homolog + PTEN + + MMAC1 + PTEN1 + TEP1 + mutated in multiple advanced cancers 1 + Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN + + + gene with protein product + + + + IUPHAR + 2497 + + + ClinVar + PTEN + + + HGNC + 9588 + + + OMIM + 601728 + + + Reactome + P60484 + + + SwissProt + P60484 + + + Ensembl + ENSG00000171862 + + + Genatlas + PTEN + + + + + 10q23.31 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 10866301[PMID] + + inhibitor of growth family member 1 + ING1 + + growth inhibitor ING1 + growth inhibitory protein ING1 + inhibitor of growth 1 + p24ING1c + p33 + p33ING1 + p33ING1b + p47 + p47ING1a + tumor suppressor ING1 + + + gene with protein product + + + + ClinVar + ING1 + + + Ensembl + ENSG00000153487 + + + Genatlas + ING1 + + + HGNC + 6062 + + + OMIM + 601566 + + + SwissProt + Q9UK53 + + + Reactome + Q9UK53 + + + + + 13q34 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 494541 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494541 + Childhood-onset benign chorea with striatal involvement + + Disease + + + Disorder + + + + 27058446[PMID]_27058447[PMID] + + phosphodiesterase 10A + PDE10A + + cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A + + + gene with protein product + + + + IUPHAR + 1310 + + + ClinVar + PDE10A + + + Ensembl + ENSG00000112541 + + + SwissProt + Q9Y233 + + + OMIM + 610652 + + + Genatlas + PDE10A + + + Reactome + Q9Y233 + + + HGNC + 8772 + + + + + 6q27 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 494526 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494526 + Infantile-onset generalized dyskinesia with orofacial involvement + + Disease + + + Disorder + + + + 27058446[PMID] + + phosphodiesterase 10A + PDE10A + + cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A + + + gene with protein product + + + + IUPHAR + 1310 + + + ClinVar + PDE10A + + + Ensembl + ENSG00000112541 + + + SwissProt + Q9Y233 + + + OMIM + 610652 + + + Genatlas + PDE10A + + + Reactome + Q9Y233 + + + HGNC + 8772 + + + + + 6q27 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 494550 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494550 + Squamous cell carcinoma of the larynx + + Disease + + + Disorder + + + + 9721831[PMID] + + TNF receptor superfamily member 10b + TNFRSF10B + + CD262 + DR5 + KILLER + TRAIL-R2 + TRICK2A + TRICKB + TRAILR2 + + + gene with protein product + + + + Genatlas + TNFRSF10B + + + HGNC + 11905 + + + SwissProt + O14763 + + + Reactome + O14763 + + + IUPHAR + 1880 + + + Ensembl + ENSG00000120889 + + + OMIM + 603612 + + + ClinVar + TNFRSF10B + + + + + 8p21.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 11801303[PMID] + + phosphatase and tensin homolog + PTEN + + MMAC1 + PTEN1 + TEP1 + mutated in multiple advanced cancers 1 + Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN + + + gene with protein product + + + + IUPHAR + 2497 + + + ClinVar + PTEN + + + HGNC + 9588 + + + OMIM + 601728 + + + Reactome + P60484 + + + SwissProt + P60484 + + + Ensembl + ENSG00000171862 + + + Genatlas + PTEN + + + + + 10q23.31 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 10866301[PMID] + + inhibitor of growth family member 1 + ING1 + + growth inhibitor ING1 + growth inhibitory protein ING1 + inhibitor of growth 1 + p24ING1c + p33 + p33ING1 + p33ING1b + p47 + p47ING1a + tumor suppressor ING1 + + + gene with protein product + + + + ClinVar + ING1 + + + Ensembl + ENSG00000153487 + + + Genatlas + ING1 + + + HGNC + 6062 + + + OMIM + 601566 + + + SwissProt + Q9UK53 + + + Reactome + Q9UK53 + + + + + 13q34 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 500180 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500180 + Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder + + Disease + + + Disorder + + + + 28777933[PMID] + + upstream binding transcription factor + UBTF + + NOR-90 + UBF + UBF1 + UBF2 + + + gene with protein product + + + + ClinVar + UBTF + + + HGNC + 12511 + + + Ensembl + ENSG00000108312 + + + SwissProt + P17480 + + + OMIM + 600673 + + + Genatlas + UBTF + + + Reactome + P17480 + + + + + 17q21.31 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 500188 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500188 + X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome + + Malformation syndrome + + + Disorder + + + + 28096187[PMID] + + G protein-coupled receptor associated sorting protein 2 + GPRASP2 + + FLJ37327 + GASP2 + + + gene with protein product + + + + ClinVar + GPRASP2 + + + HGNC + 25169 + + + Ensembl + ENSG00000158301 + + + SwissProt + Q96D09 + + + OMIM + 300969 + + + Genatlas + GPRASP2 + + + Reactome + Q96D09 + + + + + Xq22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 500150 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500150 + ZTTK syndrome + + Malformation syndrome + + + Disorder + + + + 27545680[PMID]_27545676[PMID]_27256762[PMID] + + SON DNA and RNA binding protein + SON + + FLJ21099 + DBP-5 + FLJ33914 + BASS1 + KIAA1019 + NREBP + NRE-binding protein + Bax antagonist selected in Saccharomyces 1 + negative regulatory element-binding protein + + + gene with protein product + + + + OMIM + 182465 + + + Genatlas + SON + + + SwissProt + P18583 + + + Ensembl + ENSG00000159140 + + + HGNC + 11183 + + + ClinVar + SON + + + + + 21q22.11 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 500159 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500159 + Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom + + Malformation syndrome + + + Disorder + + + + 28886345[PMID] + + Rac family small GTPase 1 + RAC1 + + Rac-1 + TC-25 + p21-Rac1 + + + gene with protein product + + + + Genatlas + RAC1 + + + SwissProt + P63000 + + + ClinVar + RAC1 + + + Ensembl + ENSG00000136238 + + + Reactome + P63000 + + + HGNC + 9801 + + + OMIM + 602048 + + + + + 7p22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 302 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=302 + Inherited epidermodysplasia verruciformis + + Disease + + + Disorder + + + + 12426567[PMID] + + transmembrane channel like 6 + TMC6 + + EVIN1 + LAK-4P + + + gene with protein product + + + + ClinVar + TMC6 + + + Ensembl + ENSG00000141524 + + + Genatlas + TMC6 + + + HGNC + 18021 + + + OMIM + 605828 + + + SwissProt + Q7Z403 + + + Reactome + Q7Z403 + + + + + 17q25.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 12426567[PMID] + + transmembrane channel like 8 + TMC8 + + EVIN2 + + + gene with protein product + + + + Ensembl + ENSG00000167895 + + + Genatlas + TMC8 + + + HGNC + 20474 + + + ClinVar + TMC8 + + + OMIM + 605829 + + + SwissProt + Q8IU68 + + + + + 17q25.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 25981006[PMID] + + interleukin 7 + IL7 + + IL-7 + + + gene with protein product + + + + HGNC + 6023 + + + Ensembl + ENSG00000104432 + + + IUPHAR + 4999 + + + OMIM + 146660 + + + SwissProt + P13232 + + + Reactome + P13232 + + + + + 8q21.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 30068544[PMID] + + calcium and integrin binding 1 + CIB1 + + CIB + KIP + SIP2-28 + calmyrin + + + gene with protein product + + + + Reactome + Q99828 + + + Genatlas + CIB1 + + + HGNC + 16920 + + + OMIM + 602293 + + + SwissProt + Q99828 + + + Ensembl + ENSG00000185043 + + + ClinVar + CIB1 + + + + + 15q26.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 500166 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500166 + SIN3-related intellectual disability syndrome due to a point mutation + + Etiological subtype + + + Subtype of disorder + + + + 27399968[PMID] + + SIN3 transcription regulator family member A + SIN3A + + DKFZP434K2235 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FLJ10540 + + + gene with protein product + + + + ClinVar + CEP55 + + + SwissProt + Q53EZ4 + + + OMIM + 610000 + + + Genatlas + CEP55 + + + Reactome + Q53EZ4 + + + HGNC + 1161 + + + Ensembl + ENSG00000138180 + + + + + 10q23.33 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 500144 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500144 + Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome + + Malformation syndrome + + + Disorder + + + + 28777934[PMID] + + trafficking protein particle complex subunit 12 + TRAPPC12 + + CGI-87 + TTC-15 + + + gene with protein product + + + + ClinVar + TRAPPC12 + + + HGNC + 24284 + + + Ensembl + ENSG00000171853 + + + SwissProt + Q8WVT3 + + + OMIM + 614139 + + + Genatlas + TRAPPC12 + + + Reactome + Q8WVT3 + + + + + 2p25.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 500055 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500055 + Hao-Fountain syndrome due to 16p13.2 microdeletion + + Etiological subtype + + + Subtype of disorder + + + + 26365382[PMID] + + ubiquitin specific peptidase 7 + USP7 + + + + gene with protein product + + + + HGNC + 12630 + + + SwissProt + Q93009 + + + ClinVar + USP7 + + + OMIM + 602519 + + + Ensembl + ENSG00000187555 + + + Reactome + Q93009 + + + Genatlas + USP7 + + + + + 16p13.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 500095 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500095 + Tall stature-intellectual disability-renal anomalies syndrome + + Malformation syndrome + + + Disorder + + + + 27183861[PMID] + + FGF1 intracellular binding protein + FIBP + + FGFIBP + + + gene with protein product + + + + OMIM + 608296 + + + ClinVar + FIBP + + + HGNC + 3705 + + + Ensembl + ENSG00000172500 + + + SwissProt + O43427 + + + Genatlas + FIBP + + + Reactome + O43427 + + + + + 11q13.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 500062 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500062 + Infantile-onset periodic fever-panniculitis-dermatosis syndrome + + Disease + + + Disorder + + + + 27686184[PMID]_27559085[PMID]_27523608[PMID] + + OTU deubiquitinase with linear linkage specificity + OTULIN + + FLJ34884 + gumby + ubiquitin thioesterase otulin + + + gene with protein product + + + + HGNC + 25118 + + + Ensembl + ENSG00000154124 + + + SwissProt + Q96BN8 + + + OMIM + 615712 + + + Reactome + Q96BN8 + + + IUPHAR + 2910 + + + + + 5p15.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 123 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=123 + Björnstad syndrome + + Disease + + + Disorder + + + + 17314340[PMID]_24172246[PMID]_24236502[PMID] + + BCS1 ubiquinol-cytochrome c reductase complex chaperone + BCS1L + + BCS + BJS + Bjornstad syndrome + GRACILE syndrome + Hs.6719 + h-BCS + + + gene with protein product + + + + Ensembl + ENSG00000074582 + + + Genatlas + BCS1L + + + HGNC + 1020 + + + OMIM + 603647 + + + Reactome + Q9Y276 + + + SwissProt + Q9Y276 + + + ClinVar + BCS1L + + + + + 2q35 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 898 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=898 + Wagner disease + + Disease + + + Disorder + + + + 20301747[PMID] + + versican + VCAN + + PG-M + versican proteoglycan + + + gene with protein product + + + + ClinVar + VCAN + + + Ensembl + ENSG00000038427 + + + Genatlas + VCAN + + + HGNC + 2464 + + + OMIM + 118661 + + + Reactome + P13611 + + + SwissProt + P13611 + + + + + 5q14.2-q14.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 500478 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500478 + Squamous cell carcinoma of the oropharynx + + Disease + + + Disorder + + + + 9721831[PMID] + + TNF receptor superfamily member 10b + TNFRSF10B + + CD262 + DR5 + KILLER + TRAIL-R2 + TRICK2A + TRICKB + TRAILR2 + + + gene with protein product + + + + Genatlas + TNFRSF10B + + + HGNC + 11905 + + + SwissProt + O14763 + + + Reactome + O14763 + + + IUPHAR + 1880 + + + Ensembl + ENSG00000120889 + + + OMIM + 603612 + + + ClinVar + TNFRSF10B + + + + + 8p21.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 11801303[PMID] + + phosphatase and tensin homolog + PTEN + + MMAC1 + PTEN1 + TEP1 + mutated in multiple advanced cancers 1 + Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN + + + gene with protein product + + + + IUPHAR + 2497 + + + ClinVar + PTEN + + + HGNC + 9588 + + + OMIM + 601728 + + + Reactome + P60484 + + + SwissProt + P60484 + + + Ensembl + ENSG00000171862 + + + Genatlas + PTEN + + + + + 10q23.31 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 10866301[PMID] + + inhibitor of growth family member 1 + ING1 + + growth inhibitor ING1 + growth inhibitory protein ING1 + inhibitor of growth 1 + p24ING1c + p33 + p33ING1 + p33ING1b + p47 + p47ING1a + tumor suppressor ING1 + + + gene with protein product + + + + ClinVar + ING1 + + + Ensembl + ENSG00000153487 + + + Genatlas + ING1 + + + HGNC + 6062 + + + OMIM + 601566 + + + SwissProt + Q9UK53 + + + Reactome + Q9UK53 + + + + + 13q34 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 505 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505 + Graham Little-Piccardi-Lassueur syndrome + + Disease + + + Disorder + + + + + + major histocompatibility complex, class II, DR alpha + HLA-DRA + + + + gene with protein product + + + + ClinVar + HLA-DRA + + + HGNC + 4947 + + + OMIM + 142860 + + + Reactome + P01903 + + + SwissProt + P01903 + + + Ensembl + ENSG00000204287 + + + Genatlas + HLA-DRA + + + + + 6p21.32 + 1 + + + + + Major susceptibility factor in + + + Not yet assessed + + + + + + 170 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=170 + Woolly hair + + Disease + + + Disorder + + + + 21426374[PMID] + + lysophosphatidic acid receptor 6 + LPAR6 + + P2Y5 + + + gene with protein product + + + + Ensembl + ENSG00000139679 + + + Genatlas + P2RY5 + + + HGNC + 15520 + + + IUPHAR + 163 + + + OMIM + 609239 + + + Reactome + P43657 + + + SwissProt + P43657 + + + ClinVar + P2RY5 + + + + + 13q14.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21426374[PMID] + + lipase H + LIPH + + LPDLR + PLA1B + mPA-PLA1 + mPA-PLA1alpha + phospholipase A(1) + + + gene with protein product + + + + ClinVar + LIPH + + + Ensembl + ENSG00000163898 + + + Genatlas + LIPH + + + HGNC + 18483 + + + OMIM + 607365 + + + Reactome + Q8WWY8 + + + SwissProt + Q8WWY8 + + + + + 3q27.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20346438[PMID]_21188418[PMID] + + keratin 74 + KRT74 + + K6IRS4 + KRT5C + KRT6IRS4 + + + gene with protein product + + + + Ensembl + ENSG00000170484 + + + Genatlas + KRT74 + + + HGNC + 28929 + + + OMIM + 608248 + + + SwissProt + Q7RTS7 + + + ClinVar + KRT74 + + + Reactome + Q7RTS7 + + + + + 12q13.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22592156[PMID] + + keratin 71 + KRT71 + + K6IRS1 + KRT6IRS + KRT6IRS1 + + + gene with protein product + + + + Reactome + Q3SY84 + + + ClinVar + KRT71 + + + Ensembl + ENSG00000139648 + + + Genatlas + KRT71 + + + HGNC + 28927 + + + OMIM + 608245 + + + SwissProt + Q3SY84 + + + + + 12q13.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26160856[PMID] + + keratin 25 + KRT25 + + + + gene with protein product + + + + Reactome + Q7Z3Z0 + + + Ensembl + ENSG00000204897 + + + Genatlas + KRT25 + + + HGNC + 30839 + + + OMIM + 616646 + + + SwissProt + Q7Z3Z0 + + + ClinVar + KRT25 + + + + + 17q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 500548 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500548 + Osteosclerotic metaphyseal dysplasia + + Malformation syndrome + + + Disorder + + + + 27829680[PMID] + + leucine rich repeat kinase 1 + LRRK1 + + ROCO1 + RIPK6 + Roco1 + FLJ23119 + KIAA1790 + + + gene with protein product + + + + IUPHAR + 2058 + + + HGNC + 18608 + + + Ensembl + ENSG00000154237 + + + SwissProt + Q38SD2 + + + ClinVar + LRRK1 + + + OMIM + 610986 + + + Genatlas + LRRK1 + + + Reactome + Q38SD2 + + + + + 15q26.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 500533 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500533 + Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome + + Disease + + + Disorder + + + + 28688840[PMID]_27170158[PMID] + + STE20 related adaptor alpha + STRADA + + LYK5 + NY-BR-96 + STE20-like pseudokinase + Stlk + STRAD + + + gene with protein product + + + + ClinVar + STRADA + + + HGNC + 30172 + + + Ensembl + ENSG00000266173 + + + SwissProt + Q7RTN6 + + + Genatlas + STRADA + + + Reactome + Q7RTN6 + + + IUPHAR + 2227 + + + OMIM + 608626 + + + + + 17q23.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 500545 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500545 + Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract + + Disease + + + Disorder + + + + 28132692[PMID] + + nucleus accumbens associated 1 + NACC1 + + BEN domain containing 8 + BEND8 + BTBD30 + NAC-1 + NAC1 + + + gene with protein product + + + + HGNC + 20967 + + + Ensembl + ENSG00000160877 + + + SwissProt + Q96RE7 + + + OMIM + 610672 + + + Genatlas + NACC1 + + + Reactome + Q96RE7 + + + ClinVar + NACC1 + + + + + 19p13.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 500464 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500464 + Squamous cell carcinoma of the nasal cavity and paranasal sinuses + + Disease + + + Disorder + + + + 9721831[PMID] + + TNF receptor superfamily member 10b + TNFRSF10B + + CD262 + DR5 + KILLER + TRAIL-R2 + TRICK2A + TRICKB + TRAILR2 + + + gene with protein product + + + + Genatlas + TNFRSF10B + + + HGNC + 11905 + + + SwissProt + O14763 + + + Reactome + O14763 + + + IUPHAR + 1880 + + + Ensembl + ENSG00000120889 + + + OMIM + 603612 + + + ClinVar + TNFRSF10B + + + + + 8p21.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 11801303[PMID] + + phosphatase and tensin homolog + PTEN + + MMAC1 + PTEN1 + TEP1 + mutated in multiple advanced cancers 1 + Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN + + + gene with protein product + + + + IUPHAR + 2497 + + + ClinVar + PTEN + + + HGNC + 9588 + + + OMIM + 601728 + + + Reactome + P60484 + + + SwissProt + P60484 + + + Ensembl + ENSG00000171862 + + + Genatlas + PTEN + + + + + 10q23.31 + 1 + + + + + Disease-causing somatic mutation(s) in 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91 + Aromatase deficiency + + Disease + + + Disorder + + + + 21521281[PMID] + + cytochrome P450 family 19 subfamily A member 1 + CYP19A1 + + ARO + ARO1 + CPV1 + CYAR + P-450AROM + aromatase + + + gene with protein product + + + + ClinVar + CYP19A1 + + + OMIM + 107910 + + + Reactome + P11511 + + + SwissProt + P11511 + + + Ensembl + ENSG00000137869 + + + Genatlas + CYP19A1 + + + HGNC + 2594 + + + IUPHAR + 1362 + + + + + 15q21.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 785 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=785 + Estrogen resistance syndrome + + Disease + + + Disorder + + + + 8090165[PMID]_23841731[PMID] + + estrogen receptor 1 + ESR1 + + ER-alpha + E2 receptor alpha + oestrogen receptor alpha + nuclear receptor subfamily 3 group A member 1 + estrogen receptor alpha + ER + estradiol receptor + Era + NR3A1 + + + gene with protein product + + + 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proteinosis + + Malformation syndrome + + + Disorder + + + + 17063986[PMID]_17927570[PMID]_18690317[PMID] + + extracellular matrix protein 1 + ECM1 + + + + gene with protein product + + + + Ensembl + ENSG00000143369 + + + Genatlas + ECM1 + + + HGNC + 3153 + + + OMIM + 602201 + + + SwissProt + Q16610 + + + ClinVar + ECM1 + + + Reactome + Q16610 + + + + + 1q21.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 734 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=734 + Alpha delta granule deficiency + + Disease + + + Disorder + + + + 28041820[PMID] + + growth factor independent 1B transcriptional repressor + GFI1B + + ZNF163B + + + gene with protein product + + + + Ensembl + ENSG00000165702 + + + Genatlas + GFI1B + + + HGNC + 4238 + + + OMIM + 604383 + + + SwissProt + Q5VTD9 + + + ClinVar + GFI1B + + + Reactome + Q5VTD9 + + + + + 9q34.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 721 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=721 + Gray platelet syndrome + + Disease + + + Disorder + + + + 21765411[PMID]_21765412[PMID] + + neurobeachin like 2 + NBEAL2 + + KIAA0540 + + + gene with protein product + + + + Reactome + Q6ZNJ1 + + + Ensembl + ENSG00000160796 + + + Genatlas + NBEAL2 + + + HGNC + 31928 + + + OMIM + 614169 + + + SwissProt + Q6ZNJ1 + + + ClinVar + NBEAL2 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 722 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=722 + Hypoplasminogenemia + + Disease + + + Disorder + + + + 16849641[PMID] + + plasminogen + PLG + + + + gene with protein product + + + + Reactome + P00747 + + + SwissProt + P00747 + + + Ensembl + ENSG00000122194 + + + Genatlas + PLG + + + HGNC + 9071 + + + IUPHAR + 2394 + + + OMIM + 173350 + + + ClinVar + PLG + + + + + 6q26 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 749 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+ + + 17p13.2 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + glycoprotein Ib platelet subunit beta + GP1BB + + CD42c + GPIbbeta + platelet glycoprotein Ib beta chain + + + gene with protein product + + + + ClinVar + GP1BB + + + Ensembl + ENSG00000203618 + + + Genatlas + GP1BB + + + HGNC + 4440 + + + OMIM + 138720 + + + Reactome + P13224 + + + SwissProt + P13224 + + + + + 22q11.21 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + integrin subunit alpha 2b + ITGA2B + + CD41 + CD41B + PPP1R93 + platelet glycoprotein IIb of IIb/IIIa complex + protein phosphatase 1, regulatory subunit 93 + GPIIb + Integrin alpha-IIb + + + gene with protein product + + + + ClinVar + ITGA2B + + + Ensembl + ENSG00000005961 + + + Genatlas + ITGA2B + + + HGNC + 6138 + + + OMIM + 607759 + + + Reactome + P08514 + + + SwissProt + P08514 + + + IUPHAR + 2441 + + + + + 17q21.31 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 19821948[PMID] + + integrin subunit beta 3 + ITGB3 + + CD61 + GPIIIa + antigen CD61 + platelet glycoprotein IIIa + + + gene with protein product + + + + Ensembl + ENSG00000259207 + + + Genatlas + ITGB3 + + + HGNC + 6156 + + + OMIM + 173470 + + + Reactome + P05106 + + + SwissProt + P05106 + + + ClinVar + ITGB3 + + + IUPHAR + 2457 + + + + + 17q21.32 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + integrin subunit alpha 2 + ITGA2 + + alpha 2 subunit of VLA-2 receptor + GPIa + very late activation receptor subunit alpha-2 + alpha 2 integrin + VLAA2 + glycoprotein Ia + human platelet alloantigen 5 + HPA-5 + + + gene with protein product + + + + Reactome + P17301 + + + SwissProt + P17301 + + + Ensembl + ENSG00000164171 + + + Genatlas + ITGA2 + + + HGNC + 6137 + + + OMIM + 192974 + + + IUPHAR + 2440 + + + ClinVar + ITGA2 + + + + + 5q11.2 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + CD109 molecule + CD109 + + CPAMD7 + DKFZp762L1111 + FLJ38569 + + + gene with 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germline mutation(s) in + + + Assessed + + + + + + 465 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465 + Congenital plasminogen activator inhibitor type 1 deficiency + + Disease + + + Disorder + + + + 9207454[PMID] + + serpin family E member 1 + SERPINE1 + + plasminogen activator inhibitor, type I + PAI + + + gene with protein product + + + + ClinVar + SERPINE1 + + + Ensembl + ENSG00000106366 + + + Genatlas + SERPINE1 + + + HGNC + 8583 + + + OMIM + 173360 + + + Reactome + P05121 + + + SwissProt + P05121 + + + + + 7q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 498251 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498251 + Menstrual cycle-dependent periodic fever + + Disease + + + Disorder + + + + 21990073[PMID] + + 5-hydroxytryptamine receptor 1A + HTR1A + + 5-HT1A + + + gene with protein product + + + + IUPHAR + 1 + + + HGNC + 5286 + + + Ensembl + ENSG00000178394 + + + SwissProt + P08908 + + + OMIM + 109760 + + 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28575652[PMID] + + 3-ketodihydrosphingosine reductase + KDSR + + 3-dehydrosphinganine reductase + DHSR + SDR35C1 + short chain dehydrogenase/reductase family 35C, member 1 + + + gene with protein product + + + + ClinVar + KDSR + + + Ensembl + ENSG00000119537 + + + OMIM + 136440 + + + SwissProt + Q06136 + + + IUPHAR + 2463 + + + HGNC + 4021 + + + Genatlas + KDSR + + + Reactome + R-HSA-428134 + + + + + 18q21.33 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + loricrin cornified envelope precursor protein + LORICRIN + + + + gene with protein product + + + + Reactome + P23490 + + + ClinVar + LOR + + + Ensembl + ENSG00000203782 + + + Genatlas + LOR + + + HGNC + 6663 + + + OMIM + 152445 + + + SwissProt + P23490 + + + + + 1q21.3 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 211 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211 + Familial cylindromatosis + + Clinical subtype + + + Subtype of 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=779 + Reynolds syndrome + + Disease + + + Disorder + + + + 20522425[PMID] + + lamin B receptor + LBR + + DHCR14B + TDRD18 + tudor domain containing 18 + + + gene with protein product + + + + ClinVar + LBR + + + OMIM + 600024 + + + Reactome + Q14739 + + + SwissProt + Q14739 + + + Ensembl + ENSG00000143815 + + + Genatlas + LBR + + + HGNC + 6518 + + + + + 1q42.12 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 486811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486811 + Prenatal-onset spinal muscular atrophy with congenital bone fractures + + Disease + + + Disorder + + + + 26924529[PMID]_28218388[PMID] + + activating signal cointegrator 1 complex subunit 1 + ASCC1 + + ASC1p50 + CGI-18 + Em:AC022392.3 + p50 + + + gene with protein product + + + + OMIM + 614215 + + + Reactome + Q8N9N2 + + + SwissProt + Q8N9N2 + + + Ensembl + ENSG00000138303 + + + Genatlas + ASCC1 + + + HGNC + 24268 + + + ClinVar + ASCC1 + + + + + 10q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26924529[PMID]_28218388[PMID] + + thyroid hormone receptor interactor 4 + TRIP4 + + ASC-1 + Activating Signal Cointegrator-1 + HsT17391 + ZC2HC5 + zinc finger, C2HC5-type + + + gene with protein product + + + + Genatlas + TRIP4 + + + ClinVar + TRIP4 + + + SwissProt + Q15650 + + + Ensembl + ENSG00000103671 + + + OMIM + 604501 + + + HGNC + 12310 + + + + + 15q22.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 486815 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486815 + Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome + + Disease + + + Disorder + + + + 27008887[PMID] + + thyroid hormone receptor interactor 4 + TRIP4 + + ASC-1 + Activating Signal Cointegrator-1 + HsT17391 + ZC2HC5 + zinc finger, C2HC5-type + + + gene with protein product + + + + Genatlas + TRIP4 + + + ClinVar + TRIP4 + + + SwissProt + Q15650 + + + Ensembl + ENSG00000103671 + + + OMIM + 604501 + + + HGNC + 12310 + + + + + 15q22.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 485418 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485418 + EMILIN-1-related connective tissue disease + + Disease + + + Disorder + + + + 26462740[PMID] + + elastin microfibril interfacer 1 + EMILIN1 + + EMILIN + DKFZp586M121 + gp115 + + + gene with protein product + + + + Reactome + Q9Y6C2 + + + SwissProt + Q9Y6C2 + + + OMIM + 130660 + + + Ensembl + ENSG00000138080 + + + Genatlas + EMILIN1 + + + HGNC + 19880 + + + ClinVar + EMILIN1 + + + + + 2p23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 485421 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485421 + MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect + + Etiological subtype + + + Subtype of disorder + + + + 26783368[PMID]_22499341[PMID] + + mitochondrial fission factor + MFF + + GL004 + + + gene with protein product + + + + HGNC + 24858 + + + Ensembl + ENSG00000168958 + + + ClinVar + MFF + + + Genatlas + MFF + + + SwissProt + Q9GZY8 + + + OMIM + 614785 + + + + + 2q36.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 485350 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485350 + CLCN4-related X-linked intellectual disability syndrome + + Disease + + + Disorder + + + + 27550844[PMID] + + chloride voltage-gated channel 4 + CLCN4 + + ClC-4 + CLC4 + + + gene with protein product + + + + SwissProt + P51793 + + + HGNC + 2022 + + + OMIM + 302910 + + + Genatlas + CLCN4 + + + Reactome + P51793 + + + Ensembl + ENSG00000073464 + + + IUPHAR + 703 + + + ClinVar + CLCN4 + + + + + Xp22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 485275 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485275 + Acquired schizencephaly + + Etiological subtype + + + Subtype of disorder + + + + 8528262[PMID]_9153481[PMID]_9359037[PMID]_17506092[PMID]_17506092[PMID] + + empty spiracles homeobox 2 + EMX2 + + + + gene with protein product + + + + Reactome + Q04743 + + + Ensembl + ENSG00000170370 + + + Genatlas + EMX2 + + + HGNC + 3341 + + + OMIM + 600035 + + + SwissProt + Q04743 + + + ClinVar + EMX2 + + + + + 10q26.11 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 20157829[PMID] + + SIX homeobox 3 + SIX3 + + + + gene with protein product + + + + Ensembl + ENSG00000138083 + + + Genatlas + SIX3 + + + HGNC + 10889 + + + OMIM + 603714 + + + SwissProt + O95343 + + + ClinVar + SIX3 + + + Reactome + O95343 + + + + + 2p21 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 19533790[PMID]_20157829[PMID] + + sonic hedgehog signaling molecule + SHH + + HHG1 + MCOPCB5 + SMMCI + TPT + TPTPS + SHH signaling molecule + + + gene with protein product + + + + ClinVar + SHH + + + Ensembl + ENSG00000164690 + + + Genatlas + SHH + + + HGNC + 10848 + + + OMIM + 600725 + + + Reactome + Q15465 + + + SwissProt + Q15465 + + + + + 7q36.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 482606 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482606 + X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome + + Malformation syndrome + + + Disorder + + + + 26804200[PMID]_26686323[PMID] + + filamin A + FLNA + + ABP-280 + actin binding protein 280 + alpha filamin + + + gene with protein product + + + + Ensembl + ENSG00000196924 + + + Genatlas + FLNA + + + HGNC + 3754 + + + OMIM + 300017 + + + Reactome + P21333 + + + SwissProt + P21333 + + + ClinVar + FLNA + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 482601 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482601 + Adenylosuccinate synthetase-like 1-related distal myopathy + + Disease + + + Disorder + + + + 26506222[PMID]_27868399[PMID]_28268051[PMID] + + adenylosuccinate synthase 1 + ADSS1 + + FLJ38602 + + + gene with protein product + + + + OMIM + 612498 + + + Ensembl + ENSG00000185100 + + + Genatlas + ADSSL1 + + + ClinVar + ADSSL1 + + + SwissProt + Q8N142 + + + Reactome + Q8N142 + + + HGNC + 20093 + + + + + 14q32.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 480864 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480864 + Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome + + Disease + + + Disorder + + + + 26805781[PMID]_26805782[PMID] + + transport and golgi organization 2 homolog + TANGO2 + + DKFZp761P1121 + + + gene with protein product + + + + Ensembl + ENSG00000183597 + + + Genatlas + TANGO2 + + + ClinVar + TANGO2 + + + HGNC + 25439 + + + OMIM + 616830 + + + SwissProt + Q6ICL3 + + + + + 22q11.21 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 31837 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31837 + Pulmonary venoocclusive disease + + Disease + + + Disorder + + + + 12446270[PMID]_18626305[PMID] + + bone morphogenetic protein receptor type 2 + BMPR2 + + BMPR-II + BMPR3 + BRK-3 + T-ALK + + + gene with protein product + + + + Ensembl + ENSG00000204217 + + + Genatlas + BMPR2 + + + HGNC + 1078 + + + IUPHAR + 1794 + + + OMIM + 600799 + + + Reactome + Q13873 + + + SwissProt + Q13873 + + + ClinVar + BMPR2 + + + + + 2q33.1-q33.2 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 24292273[PMID] + + eukaryotic translation initiation factor 2 alpha kinase 4 + EIF2AK4 + + GCN2 + KIAA1338 + eIF-2-alpha kinase + + + gene with protein product + + + + Ensembl + ENSG00000128829 + + + Genatlas + EIF2AK4 + + + HGNC + 19687 + + + IUPHAR + 2018 + + + OMIM + 609280 + + + SwissProt + Q9P2K8 + + + ClinVar + EIF2AK4 + + + + + 15q15.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 480907 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480907 + X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome + + Malformation syndrome + + + Disorder + + + + 26637982[PMID] + + TATA-box binding protein associated factor 1 + TAF1 + + DYT3/TAF1 + KAT4 + NSCL2 + TAFII250 + + + gene with protein product + + + + ClinVar + TAF1 + + + Genatlas + TAF1 + + + HGNC + 11535 + + + IUPHAR + 2231 + + + OMIM + 313650 + + + Reactome + P21675 + + + SwissProt + P21675 + + + Ensembl + ENSG00000147133 + + + + + Xq13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 480898 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480898 + Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome + + Disease + + + Disorder + + + + 26942288[PMID] + + ER membrane protein complex subunit 1 + EMC1 + + + + gene with protein product + + + + SwissProt + Q8N766 + + + OMIM + 616846 + + + Ensembl + ENSG00000127463 + + + ClinVar + EMC1 + + + HGNC + 28957 + + + Genatlas + EMC1 + + + + + 1p36.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 480880 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480880 + X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability + + Malformation syndrome + + + Disorder + + + + 26833328[PMID] + + ubiquitin specific peptidase 9 X-linked + USP9X + + DFFRX + FAF + MRX99 + fat facets-like, X-linked + FAF-X + + + gene with protein product + + + + ClinVar + USP9X + + + Ensembl + ENSG00000124486 + + + Genatlas + USP9X + + + HGNC + 12632 + + + OMIM + 300072 + + + Reactome + Q93008 + + + SwissProt + Q93008 + + + + + Xp11.4 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 480556 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480556 + Isolated neonatal sclerosing cholangitis + + Disease + + + Disorder + + + + 27319779_27469900[PMID] + + doublecortin domain containing 2 + DCDC2 + + DCDC2A + KIAA1154 + NPHP19 + RU2 + nephronophthisis 19 + + + gene with protein product + + + + Ensembl + ENSG00000146038 + + + Genatlas + DCDC2 + + + HGNC + 18141 + + + OMIM + 605755 + + + SwissProt + Q9UHG0 + + + Reactome + Q9UHG0 + + + ClinVar + DCDC2 + + + + + 6p22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 480541 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480541 + High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement + + Disease + + + Disorder + + + + 21119107[PMID]_27888878[PMID]_27717585[PMID] + + BCL6 transcription repressor + BCL6 + + BCL5 + BCL6A + LAZ3 + ZBTB27 + 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like 1 + KDELCL1 + MDS010 + MDSRP + MGC32995 + Rumi + hCLP46 + + + gene with protein product + + + + Ensembl + ENSG00000163389 + + + Genatlas + POGLUT1 + + + HGNC + 22954 + + + OMIM + 615618 + + + Reactome + Q8NBL1 + + + SwissProt + Q8NBL1 + + + ClinVar + POGLUT1 + + + + + 3q13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 481665 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481665 + Pseudo-TORCH syndrome type 2 + + Disease + + + Disorder + + + + 27325888[PMID]_27821552[PMID] + + ubiquitin specific peptidase 18 + USP18 + + Ubl carboxyl-terminal hydrolase 18 + + + gene with protein product + + + + Genatlas + USP18 + + + Reactome + Q9UMW8 + + + SwissProt + Q9UMW8 + + + Ensembl + ENSG00000184979 + + + HGNC + 12616 + + + OMIM + 607057 + + + ClinVar + USP18 + + + + + 22q11.21 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 482077 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482077 + HTRA1-related autosomal dominant cerebral small vessel disease + + Disease + + + Disorder + + + + 26063658[PMID] + + HtrA serine peptidase 1 + HTRA1 + + ARMD7 + HtrA + IGFBP5-protease + + + gene with protein product + + + + ClinVar + HTRA1 + + + Ensembl + ENSG00000166033 + + + Genatlas + HTRA1 + + + HGNC + 9476 + + + OMIM + 602194 + + + SwissProt + Q92743 + + + IUPHAR + 3194 + + + Reactome + Q92743 + + + + + 10q26.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 481986 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481986 + Familial schizencephaly + + Etiological subtype + + + Subtype of disorder + + + + 23225343[PMID]_25500781[PMID]_26576802[PMID] + + collagen type IV alpha 1 chain + COL4A1 + + + + gene with protein product + + + + ClinVar + COL4A1 + + + Ensembl + ENSG00000187498 + + + Genatlas + COL4A1 + + + HGNC + 2202 + + + OMIM + 120130 + + + Reactome + P02462 + + + SwissProt + P02462 + + + + + 13q34 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 481152 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481152 + PYCR2-related microcephaly-progressive leukoencephalopathy + + Malformation syndrome + + + Disorder + + + + 25865492[PMID]_27130255[PMID] + + pyrroline-5-carboxylate reductase 2 + PYCR2 + + P5CR2 + + + gene with protein product + + + + HGNC + 30262 + + + Ensembl + ENSG00000143811 + + + OMIM + 616406 + + + SwissProt + Q96C36 + + + Genatlas + PYCR2 + + + Reactome + R-HSA-6783954 + + + ClinVar + PYCR2 + + + + + 1q42.12 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 481662 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481662 + Familial Chilblain lupus + + Disease + + + Disorder + + + + 27566796[PMID] + + SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 + SAMHD1 + + AGS5 + Aicardi-Goutieres syndrome 5 + HD domain containing 1 + HDDC1 + MOP-5 + Mg11 + SBBI88 + monocyte protein 5 + + + gene with protein product + + + + OMIM + 606754 + + + Reactome + Q9Y3Z3 + + + SwissProt + Q9Y3Z3 + + + Ensembl + ENSG00000101347 + + + Genatlas + SAMHD1 + + + HGNC + 15925 + + + ClinVar + SAMHD1 + + + + + 20q11.23 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 27566796[PMID] + + three prime repair exonuclease 1 + TREX1 + + DRN3 + + + gene with protein product + + + + Genatlas + TREX1 + + + HGNC + 12269 + + + OMIM + 606609 + + + Reactome + Q9NSU2 + + + SwissProt + Q9NSU2 + + + Ensembl + ENSG00000213689 + + + ClinVar + TREX1 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 27566796[PMID] + + stimulator of interferon response cGAMP interactor 1 + STING1 + + MITA + MPYS + stimulator of interferon genes + endoplasmic reticulum IFN stimulator + STING + ERIS + FLJ38577 + NET23 + + + gene with protein product + + + + Ensembl + ENSG00000184584 + + + Genatlas + TMEM173 + + + HGNC + 27962 + + + OMIM + 612374 + + + Reactome + Q86WV6 + + + SwissProt + Q86WV6 + + + IUPHAR + 2902 + + + ClinVar + TMEM173 + + + + + 5q31.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 480476 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480476 + Progressive familial intrahepatic cholestasis type 5 + + Clinical subtype + + + Subtype of disorder + + + + 26888176[PMID] + + nuclear receptor subfamily 1 group H member 4 + NR1H4 + + FXR + HRR-1 + HRR1 + RIP14 + farnesoid X receptor + bile acid receptor + + + gene with protein product + + + + Genatlas + NR1H4 + + + HGNC + 7967 + + + IUPHAR + 603 + + + OMIM + 603826 + + + Reactome + Q96RI1 + + + SwissProt + Q96RI1 + + + Ensembl + ENSG00000012504 + + + ClinVar + NR1H4 + + + + + 12q23.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 480491 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480491 + MYO5B-related progressive familial intrahepatic cholestasis + + Clinical subtype + + + Subtype of disorder + + + + 27532546[PMID] + + myosin VB + MYO5B + + KIAA1119 + + + gene with protein product + + + + Ensembl + ENSG00000167306 + + + Genatlas + MYO5B + + + HGNC + 7603 + + + OMIM + 606540 + + + Reactome + Q9ULV0 + + + SwissProt + Q9ULV0 + + + ClinVar + MYO5B + + + + + 18q21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 480483 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480483 + Progressive familial intrahepatic cholestasis type 4 + + Clinical subtype + + + Subtype of disorder + + + + 26983395[PMID]_24614073[PMID] + + tight junction protein 2 + TJP2 + + Friedreich ataxia region gene X104 (tight junction protein ZO-2) + X104 + ZO-2 + ZO2 + zona occludens 2 + + + gene with protein product + + + + Ensembl + ENSG00000119139 + + + Genatlas + TJP2 + + + HGNC + 11828 + + + OMIM + 607709 + + + Reactome + Q9UDY2 + + + SwissProt + Q9UDY2 + + + ClinVar + TJP2 + + + + + 9q21.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 480528 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480528 + Lethal hydranencephaly-diaphragmatic hernia syndrome + + Malformation syndrome + + + Disorder + + + + 27417437[PMID]_6401391[PMID]_665314[PMID] + + plasminogen activator, tissue type + PLAT + + + + gene with protein product + + + + ClinVar + PLAT + + + Ensembl + ENSG00000104368 + + + SwissProt + P00750 + + + OMIM + 173370 + + + Genatlas + PLAT + + + Reactome + P00750 + + + IUPHAR + 2392 + + + HGNC + 9051 + + + + + 8p11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 480536 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480536 + MSH3-related polyposis + + Disease + + + Disorder + + + + 27476653[PMID] + + mutS homolog 3 + MSH3 + + Divergent upstream protein + DUP + Mismatch repair protein 1 + MRP1 + + + gene with protein product + + + + ClinVar + MSH3 + + + OMIM + 600887 + + + Genatlas + MSH3 + + + Reactome + P20585 + + + HGNC + 7326 + + + Ensembl + ENSG00000113318 + + + SwissProt + P20585 + + + + + 5q14.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 477814 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477814 + Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome + + Malformation syndrome + + + Disorder + + + + 24781755[PMID]_2643574[PMID] + + diaphanous related formin 1 + DIAPH1 + + LFHL1 + hDIA1 + mDia1 + mammalian diaphanous related formin 1 + + + gene with protein product + + + + Ensembl + ENSG00000131504 + + + Genatlas + DIAPH1 + + + HGNC + 2876 + + + OMIM + 602121 + + + Reactome + O60610 + + + SwissProt + O60610 + + + ClinVar + DIAPH1 + + + + + 5q31.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 477787 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477787 + Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder + + Disease + + + Disorder + + + + 25102815[PMID]_18451993[PMID] + + phospholipase A2 group IVA + PLA2G4A + + cPLA2-alpha + + + gene with protein product + + + + ClinVar + PLA2G4A + + + Reactome + P47712 + + + Ensembl + ENSG00000116711 + + + IUPHAR + 1424 + + + HGNC + 9035 + + + OMIM + 600522 + + + Genatlas + PLA2G4A + + + SwissProt + P47712 + + + + + 1q31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 478029 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478029 + Combined oxidative phosphorylation defect type 29 + + Disease + + + Disorder + + + + 26626369[PMID] + + thioredoxin 2 + TXN2 + + MT-TRX + + + gene with protein product + + + + HGNC + 17772 + + + Ensembl + ENSG00000100348 + + + OMIM + 609063 + + + Genatlas + TXN2 + + + ClinVar + TXN2 + + + SwissProt + Q99757 + + + Reactome + Q99757 + + + + + 22q12.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 478042 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478042 + Combined oxidative phosphorylation defect type 30 + + Disease + + + Disorder + + + + 27132592[PMID] + + tRNA methyltransferase 10C, mitochondrial RNase P subunit + TRMT10C + + FLJ20432 + mitochondrial RNase P subunit 1 + MRPP1 + + + gene with protein product + + + + Ensembl + ENSG00000174173 + + + HGNC + 26022 + + + SwissProt + Q7L0Y3 + + + Reactome + Q7L0Y3 + + + OMIM + 615423 + + + Genatlas + TRMT10C + + + ClinVar + TRMT10C + + + + + 3q12.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 477993 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477993 + Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome + + Malformation syndrome + + + Disorder + + + + 24838796[PMID]_26656649[PMID] + + lysine demethylase 1A + KDM1A + + BHC110 + KIAA0601 + LSD1 + Lysine-specific histone demethylase 1A + + + gene with protein product + + + + HGNC + 29079 + + + Genatlas + KDM1A + + + SwissProt + O60341 + + + Reactome + O60341 + + + OMIM + 609132 + + + Ensembl + ENSG00000004487 + + + IUPHAR + 2669 + + + ClinVar + KDM1A + + + + + 1p36.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 477857 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477857 + Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency + + Disease + + + Disorder + + + + 26160376[PMID] + + RAR related orphan receptor C + RORC + + RORG + RZRG + NR1F3 + TOR + Nuclear receptor ROR-gamma + + + gene with protein product + + + + SwissProt + P51449 + + + IUPHAR + 600 + + + Reactome + P51449 + + + Genatlas + RORC + + + ClinVar + RORC + + + Ensembl + ENSG00000143365 + + + HGNC + 10260 + + + OMIM + 602943 + + + + + 1q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 477817 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477817 + PMP22-RAI1 contiguous gene duplication syndrome + + Malformation syndrome + + + Disorder + + + + 26544804[PMID] + + retinoic acid induced 1 + RAI1 + + DKFZP434A139 + KIAA1820 + MGC12824 + SMS + + + gene with protein product + + + + ClinVar + RAI1 + + + Ensembl + ENSG00000108557 + + + Genatlas + RAI1 + + + HGNC + 9834 + + + OMIM + 607642 + + + Reactome + Q7Z5J4 + + + SwissProt + Q7Z5J4 + + + + + 17p11.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 477831 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477831 + Kosaki overgrowth syndrome + + Malformation syndrome + + + Disorder + + + + 25454926[PMID]_26455322[PMID] + + platelet derived growth factor receptor beta + PDGFRB + + CD140b + JTK12 + PDGFR1 + + + gene with protein product + + + + ClinVar + PDGFRB + + + Ensembl + ENSG00000113721 + + + Genatlas + PDGFRB + + + HGNC + 8804 + + + IUPHAR + 1804 + + + OMIM + 173410 + + + Reactome + P09619 + + + SwissProt + P09619 + + + + + 5q32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 478049 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478049 + Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome + + Disease + + + Disorder + + + + 27799064[PMID]_25778941[PMID] + + mitochondrial intermediate peptidase + MIPEP + + MIP + + + gene with protein product + + + + Genatlas + MIPEP + + + OMIM + 602241 + + + HGNC + 7104 + + + ClinVar + MIPEP + + + Ensembl + ENSG00000027001 + + + SwissProt + Q99797 + + + + + 13q12.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 478664 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478664 + Hereditary sensory and autonomic neuropathy type 8 + + Disease + + + Disorder + + + + 26005867[PMID]_26975306[PMID]_28050684[PMID] + + PR/SET domain 12 + PRDM12 + + PFM9 + PR-domain containing protein 12 + PR-domain zinc finger protein 12 + + + gene with protein product + + + + SwissProt + Q9H4Q4 + + + Ensembl + ENSG00000130711 + + + Genatlas + PRDM12 + + + ClinVar + PRDM12 + + + HGNC + 13997 + + + OMIM + 616458 + + + + + 9q34.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 477661 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477661 + IL21-related infantile inflammatory bowel disease + + Disease + + + Disorder + + + + 19890111[PMID]_24746753[PMID] + + interleukin 21 + IL21 + + IL-21 + Za11 + + + gene with protein product + + + + Ensembl + ENSG00000138684 + + + Genatlas + IL21 + + + HGNC + 6005 + + + OMIM + 605384 + + + SwissProt + Q9HBE4 + + + ClinVar + IL21 + + + + + 4q27 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 477684 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477684 + Combined oxidative phosphorylation defect type 26 + + Disease + + + Disorder + + + + 26189817[PMID] + + tRNA methyltransferase 5 + TRMT5 + + TRM5 + tRNA (guanine(37)-N1)-methyltransferase + + + gene with protein product + + + + ClinVar + TRMT5 + + + Ensembl + ENSG00000126814 + + + HGNC + 23141 + + + OMIM + 611023 + + + Genatlas + TRMT5 + + + SwissProt + Q32P41 + + + Reactome + Q32P41 + + + + + 14q23.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 477673 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477673 + Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome + + Disease + + + Disorder + + + + 25758935[PMID]_27601654[PMID] + + glutamic--pyruvic transaminase 2 + GPT2 + + ALT2 + alanine aminotransferase 2 + + + gene with protein product + + + + HGNC + 18062 + + + Genatlas + GPT2 + + + Ensembl + ENSG00000166123 + + + ClinVar + GPT2 + + + Reactome + Q8TD30 + + + SwissProt + Q8TD30 + + + OMIM + 138210 + + + + + 16q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 477738 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477738 + Pediatric multiple sclerosis + + Disease + + + Disorder + + + + 14669136[PMID]_8181961[PMID] + + major histocompatibility complex, class II, DQ beta 1 + HLA-DQB1 + + CELIAC1 + IDDM1 + + + gene with protein product + + + + ClinVar + HLA-DQB1 + + + Ensembl + ENSG00000179344 + + + Genatlas + HLA-DQB1 + + + HGNC + 4944 + + + OMIM + 604305 + + + Reactome + P01920 + + + SwissProt + P01920 + + + + + 6p21.32 + 1 + + + + + Biomarker tested in + + + Not yet assessed + + + + 14669136[PMID]_8181961[PMID] + + major histocompatibility complex, class II, DR beta 1 + HLA-DRB1 + + + + gene with protein product + + + + ClinVar + HLA-DRB1 + + + Ensembl + ENSG00000196126 + + + Genatlas + HLA-DRB1 + + + HGNC + 4948 + + + OMIM + 142857 + + + Reactome + P04229 + + + SwissProt + P01911 + + + + + 6p21.32 + 1 + + + + + Biomarker tested in + + + Not yet assessed + + + + + + 477749 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477749 + Pontine autosomal dominant microangiopathy with leukoencephalopathy + + Disease + + + Disorder + + + + 27666438[PMID] + + collagen type IV alpha 1 chain + COL4A1 + + + + gene with protein product + + + + ClinVar + COL4A1 + + + Ensembl + ENSG00000187498 + + + Genatlas + COL4A1 + + + HGNC + 2202 + + + OMIM + 120130 + + + Reactome + P02462 + + + SwissProt + P02462 + + + + + 13q34 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 477742 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477742 + Nodular fasciitis + + Disease + + + Disorder + + + + 21826056[PMID] + + ubiquitin specific peptidase 6 + USP6 + + TBC1D3 and USP32 fusion + Tre-2 + Tre-2 oncogene + TRE17 + Tre2 + ubiquitin carboxyl-terminal hydrolase 6 + + + gene with protein product + + + + HGNC + 12629 + + + OMIM + 604334 + + + Genatlas + USP6 + + + Ensembl + ENSG00000129204 + + + SwissProt + P35125 + + + ClinVar + USP6 + + + + + 17p13.2 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 21826056[PMID] + + myosin heavy chain 9 + MYH9 + + EPSTS + FTNS + MHA + NMHC-II-A + NMMHCA + nonmuscle myosin heavy chain II-A + + + gene with protein product + + + + ClinVar + MYH9 + + + Ensembl + ENSG00000100345 + + + Genatlas + MYH9 + + + HGNC + 7579 + + + OMIM + 160775 + + + Reactome + P35579 + + + SwissProt + P35579 + + + + + 22q12.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 477774 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477774 + Combined oxidative phosphorylation defect type 27 + + Disease + + + Disorder + + + + 25787132[PMID]_25361775[PMID] + + cysteinyl-tRNA synthetase 2, mitochondrial + CARS2 + + FLJ12118 + cysteine tRNA ligase 2, mitochondrial (putative) + + + gene with protein product + + + + Reactome + Q9HA77 + + + HGNC + 25695 + + + Genatlas + CARS2 + + + Ensembl + ENSG00000134905 + + + SwissProt + Q9HA77 + + + OMIM + 612800 + + + ClinVar + CARS2 + + + + + 13q34 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 476119 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476119 + Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome + + Malformation syndrome + + + Disorder + + + + 25782671[PMID] + + sonic hedgehog signaling molecule + SHH + + HHG1 + MCOPCB5 + SMMCI + TPT + TPTPS + SHH signaling molecule + + + gene with protein product + + + + ClinVar + SHH + + + Ensembl + ENSG00000164690 + + + Genatlas + SHH + + + HGNC + 10848 + + + OMIM + 600725 + + + Reactome + Q15465 + + + SwissProt + Q15465 + + + + + 7q36.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 476113 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476113 + Combined immunodeficiency due to TFRC deficiency + + Disease + + + Disorder + + + + 26642240[PMID] + + transferrin receptor + TFRC + + p90 + TFR1 + CD71 + + + gene with protein product + + + + ClinVar + TFRC + + + Genatlas + TFRC + + + OMIM + 190010 + + + Ensembl + ENSG00000072274 + + + IUPHAR + 3196 + + + SwissProt + P02786 + + + Reactome + P02786 + + + HGNC + 11763 + + + + + 3q29 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 476126 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476126 + Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome + + Malformation syndrome + + + Disorder + + + + 26721934[PMID] + + trio Rho guanine nucleotide exchange factor + TRIO + + ARHGEF23 + + + gene with protein product + + + + HGNC + 12303 + + + Genatlas + TRIO + + + SwissProt + O75962 + + + OMIM + 601893 + + + IUPHAR + 2255 + + + Reactome + O75962 + + + Ensembl + ENSG00000038382 + + + ClinVar + TRIO + + + + + 5p15.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 476406 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476406 + Congenital generalized hypercontractile muscle stiffness syndrome + + Disease + + + Disorder + + + + 26418456[PMID] + + tropomyosin 3 + TPM3 + + TRK + + + gene with protein product + + + + OMIM + 191030 + + + Reactome + P06753 + + + SwissProt + P06753 + + + Ensembl + ENSG00000143549 + + + Genatlas + TPM3 + + + HGNC + 12012 + + + ClinVar + TPM3 + + + + + 1q21.3 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 476394 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476394 + PMP2-related Charcot-Marie-Tooth disease type 1 + + Disease + + + Disorder + + + + 26828946[PMID] + + peripheral myelin protein 2 + PMP2 + + MP2 + M-FABP + FABP8 + + + gene with protein product + + + + SwissProt + P02689 + + + Genatlas + PMP2 + + + ClinVar + PMP2 + + + Ensembl + ENSG00000147588 + + + OMIM + 170715 + + + HGNC + 9117 + + + IUPHAR + 2544 + + + + + 8q21.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 493342 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=493342 + Vibratory urticaria + + Disease + + + Disorder + + + + 26841242[PMID] + + adhesion G protein-coupled receptor E2 + ADGRE2 + + CD312 + + + gene with protein product + + + + IUPHAR + 183 + + + HGNC + 3337 + + + Ensembl + ENSG00000127507 + + + SwissProt + Q9UHX3 + + + OMIM + 606100 + + + Reactome + Q9UHX3 + + + + + 19p13.12 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 488642 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488642 + TELO2-related intellectual disability-neurodevelopmental disorder + + Malformation syndrome + + + Disorder + + + + 27132593[PMID] + + telomere maintenance 2 + TELO2 + + hCLK2 + KIAA0683 + TEL2 + + + gene with protein product + + + + Ensembl + ENSG00000100726 + + + SwissProt + Q9Y4R8 + + + OMIM + 611140 + + + Genatlas + TELO2 + + + Reactome + Q9Y4R8 + + + ClinVar + TELO2 + + + HGNC + 29099 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 488647 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488647 + DDX41-related hematologic malignancy predisposition syndrome + + Disease + + + Disorder + + + + 26712909[PMID]_25920683[PMID] + + DEAD-box helicase 41 + DDX41 + + ABS + MGC8828 + Abstrakt + + + gene with protein product + + + + Genatlas + DDX41 + + + SwissProt + Q9UJV9 + + + OMIM + 608170 + + + ClinVar + DDX41 + + + HGNC + 18674 + + + Reactome + Q9UJV9 + + + Ensembl + ENSG00000183258 + + + + + 5q35.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 488650 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488650 + Distal myopathy, Tateyama type + + Disease + + + Disorder + + + + 11805270[PMID]_18930476[PMID] + + caveolin 3 + CAV3 + + LGMD1C + LQT9 + M-caveolin + VIP-21 + VIP21 + + + gene with protein product + + + + Ensembl + ENSG00000182533 + + + Genatlas + CAV3 + + + HGNC + 1529 + + + OMIM + 601253 + + + Reactome + P56539 + + + SwissProt + P56539 + + + ClinVar + CAV3 + + + + + 3p25.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 488618 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488618 + Transketolase deficiency + + Malformation syndrome + + + Disorder + + + + 27259054[PMID] + + transketolase + TKT + + Wernicke-Korsakoff syndrome + + + gene with protein product + + + + HGNC + 11834 + + + Ensembl + ENSG00000163931 + + + SwissProt + P29401 + + + OMIM + 606781 + + + Genatlas + TKT + + + Reactome + P29401 + + + ClinVar + TKT + + + + + 3p21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 488627 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488627 + Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome + + Malformation syndrome + + + Disorder + + + + 27055666[PMID] + + pseudouridine synthase 3 + PUS3 + + FKSG32 + tRNA-uridine isomerase 3 + tRNA pseudouridine(38/39) synthase + DEG1 + + + gene with protein product + + + + HGNC + 25461 + + + SwissProt + Q9BZE2 + + + ClinVar + PUS3 + + + Ensembl + ENSG00000110060 + + + OMIM + 616283 + + + Genatlas + PUS3 + + + Reactome + Q9BZE2 + + + + + 11q24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 488632 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488632 + TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome + + Malformation syndrome + + + Disorder + + + + 27040691[PMID]_27040692[PMID]_27275012[PMID]_27748029[PMID]_18541960[PMID] + + TBC1 domain containing kinase + TBCK + + HSPC302 + MGC16169 + FERRY1 + Fy-1 + + + gene with protein product + + + + HGNC + 28261 + + + Ensembl + ENSG00000145348 + + + SwissProt + Q8TEA7 + + + OMIM + 616899 + + + Genatlas + TBCK + + + ClinVar + TBCK + + + IUPHAR + 2236 + + + + + 4q24 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 488635 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488635 + Early-onset epilepsy-intellectual disability-brain anomalies syndrome + + Disease + + + Disorder + + + + 26996948[PMID]_28581210[PMID] + + phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) + PIGG + + LAS21 (GPI7) homolog (S. cerevisiae) + FLJ20265 + GPI7 + LAS21 + GPI ethanolamine phosphate transferase 2 + + + gene with protein product + + + + SwissProt + Q5H8A4 + + + OMIM + 616918 + + + Genatlas + PIGG + + + Reactome + Q5H8A4 + + + ClinVar + PIGG + + + HGNC + 25985 + + + Ensembl + ENSG00000174227 + + + + + 4p16.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 488265 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488265 + Osteofibrous dysplasia + + Disease + + + Disorder + + + + 26637977[PMID]_8276381[PMID]_9234973[PMID] + + MET proto-oncogene, receptor tyrosine kinase + MET + + DFNB97 + HGFR + RCCP2 + hepatocyte growth factor receptor + + + gene with protein product + + + + Ensembl + ENSG00000105976 + + + Genatlas + MET + + + HGNC + 7029 + + + IUPHAR + 1815 + + + OMIM + 164860 + + + Reactome + P08581 + + + SwissProt + P08581 + + + ClinVar + MET + + + + + 7q31.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 488232 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232 + Split-foot malformation-mesoaxial polydactyly syndrome + + Malformation syndrome + + + Disorder + + + + 26755636[PMID] + + mitogen-activated protein kinase kinase kinase 20 + MAP3K20 + + mixed lineage kinase 7 + MLK7 + MLTK + MLTKalpha + MLTKbeta + MRK + ZAK + ZAK1 homolog, leucine zipper and sterile-alpha motif kinase (Dictyostelium) + + + gene with protein product + + + + HGNC + 17797 + + + Ensembl + ENSG00000091436 + + + OMIM + 609479 + + + IUPHAR + 2289 + + + SwissProt + Q9NYL2 + + + Reactome + Q9NYL2 + + + + + 2q31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 488333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488333 + Autosomal dominant Charcot-Marie-Tooth disease type 2W + + Disease + + + Disorder + + + + 26072516[PMID] + + histidyl-tRNA synthetase 1 + HARS1 + + histidine tRNA ligase 1, cytoplasmic + Histidine tRNA ligase 1, cytoplasmic + Jo-1 antigen + HisRS + Jo‐1 antigen + + + gene with protein product + + + + Ensembl + ENSG00000170445 + + + Genatlas + HARS + + + HGNC + 4816 + + + OMIM + 142810 + + + Reactome + P12081 + + + SwissProt + P12081 + + + ClinVar + HARS + + + + + 5q31.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 488437 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488437 + SIX2-related frontonasal dysplasia + + Malformation syndrome + + + Disorder + + + + 26581443[PMID]_27920634[PMID] + + SIX homeobox 2 + SIX2 + + + + gene with protein product + + + + SwissProt + Q9NPC8 + + + OMIM + 604994 + + 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76 + + Disease + + + Disorder + + + + 201727153400[PMID] + + calpain 1 + CAPN1 + + CANP + CANPL1 + muCANP + muCL + + + gene with protein product + + + + ClinVar + CAPN1 + + + IUPHAR + 2336 + + + HGNC + 1476 + + + Ensembl + ENSG00000014216 + + + SwissProt + P07384 + + + OMIM + 114220 + + + Genatlas + CAPN1 + + + + + 11q13.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 488197 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488197 + Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome + + Disease + + + Disorder + + + + 26056285[PMID]_26159420[PMID] + + microRNA 204 + MIR204 + + hsa-mir-204 + + + Non-coding RNA + + + + HGNC + 31582 + + + Ensembl + ENSG00000207935 + + + OMIM + 610942 + + + + + 9q21.12 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 488168 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488168 + Microcephaly-congenital cataract-psoriasiform dermatitis syndrome + + Malformation syndrome + + + Disorder + + + + 21285510[PMID]_24144731[PMID]_23042573[PMID] + + methylsterol monooxygenase 1 + MSMO1 + + ERG25 + DESP4 + + + gene with protein product + + + + OMIM + 607545 + + + Reactome + Q15800 + + + HGNC + 10545 + + + Ensembl + ENSG00000052802 + + + SwissProt + Q15800 + + + + + 4q32.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 488191 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488191 + Female infertility due to oocyte meiotic arrest + + Disease + + + Disorder + + + + 26537248[PMID] + + TLE family member 6, subcortical maternal complex member + TLE6 + + FLJ14009 + GRG6 + + + gene with protein product + + + + HGNC + 30788 + + + Ensembl + ENSG00000104953 + + + OMIM + 612399 + + + SwissProt + Q9H808 + + + + + 19p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 34611029[PMID] + + ZFP36 like 2 zinc finger CCCH-type + ZFP36L2 + + ERF2 + TIS11D + + + gene with protein product + + + + Ensembl + ENSG00000152518 + + + OMIM + 612053 + + + SwissProt + P47974 + + + HGNC + 1108 + + + + + 2p21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 29606300[PMID] + + WEE2 oocyte meiosis inhibiting kinase + WEE2 + + WEE1B + FLJ16107 + + + gene with protein product + + + + HGNC + 19684 + + + Ensembl + ENSG00000214102 + + + SwissProt + P0C1S8 + + + OMIM + 614084 + + + Genatlas + WEE2 + + + IUPHAR + 2279 + + + ClinVar + WEE2 + + + + + 7q34 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 33495594[PMID] + + pannexin 1 + PANX1 + + MRS1 + UNQ2529 + PX1 + innexin + + + gene with protein product + + + + HGNC + 8599 + + + Ensembl + ENSG00000110218 + + + SwissProt + Q96RD7 + + + Reactome + Q96RD7 + + + IUPHAR + 735 + + + OMIM + 608420 + + + + + 11q21 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 28965849[PMID] + + PAT1 homolog 2 + PATL2 + + Pat1a + + + gene with protein product + + + + HGNC + 33630 + + + Ensembl + ENSG00000229474 + + + SwissProt + C9JE40 + + + OMIM + 614661 + + + Genatlas + PATL2 + + + ClinVar + PATL2 + + + + + 15q21.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 26789871[PMID] + + tubulin beta 8 class VIII + TUBB8 + + bA631M21.2 + class VIII beta-tubulin + + + gene with protein product + + + + IUPHAR + 2753 + + + ClinVar + TUBB8 + + + HGNC + 20773 + + + Ensembl + ENSG00000261456 + + + SwissProt + Q3ZCM7 + + + OMIM + 616768 + + + Genatlas + TUBB8 + + + Reactome + Q3ZCM7 + + + + + 10p15.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 487796 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487796 + Takenouchi-Kosaki syndrome + + Malformation syndrome + + + Disorder + + + + 26386261[PMID]_26708094[PMID] + + cell division cycle 42 + CDC42 + + GTP binding protein, 25kDa + CDC42Hs + G25K + + + gene with protein product + + + + HGNC + 1736 + + + Genatlas + CDC42 + + + Reactome + P60953 + + + OMIM + 116952 + + + ClinVar + CDC42 + + + SwissProt + P60953 + + + Ensembl + ENSG00000070831 + + + + + 1p36.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 487814 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487814 + Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation + + Disease + + + Disorder + + + + 26786738[PMID] + + diacylglycerol O-acyltransferase 2 + DGAT2 + + + + gene with protein product + + + + IUPHAR + 3211 + + + ClinVar + DGAT2 + + + HGNC + 16940 + + + Ensembl + ENSG00000062282 + + + SwissProt + Q96PD7 + + + OMIM + 606983 + + + Genatlas + DGAT2 + + + Reactome + Q96PD7 + + + + + 11q13.5 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 487825 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487825 + Pierpont syndrome + + Malformation syndrome + + + Disorder + + + + 26769062[PMID]_28562391[PMId]_21834056[PMID] + + TBL1X/Y related 1 + TBL1XR1 + + C21 + DC42 + FLJ12894 + IRA1 + TBLR1 + F-box-like/WD repeat-containing protein TBL1XR1 + TBL1-related protein + + + gene with protein product + + + + Ensembl + ENSG00000177565 + + + Genatlas + TBL1XR1 + + + HGNC + 29529 + + + OMIM + 608628 + + + Reactome + Q9BZK7 + + + SwissProt + Q9BZK7 + + + ClinVar + TBL1XR1 + + + + + 3q26.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 31150 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31150 + Tangier disease + + Disease + + + Disorder + + + + 10535983[PMID] + + ATP binding cassette subfamily A member 1 + ABCA1 + + TGD + Tangier disease + + + gene with protein product + + + + IUPHAR + 756 + + + ClinVar + ABCA1 + + + Ensembl + ENSG00000165029 + + + Genatlas + ABCA1 + + + HGNC + 29 + + + OMIM + 600046 + + + Reactome + O95477 + + + SwissProt + O95477 + + + + + 9q31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 31043 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31043 + Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement + + Clinical subtype + + + Subtype of disorder + + + + 18816383[PMID]_11518780[PMID]_10878661[PMID] + + claudin 16 + CLDN16 + + HOMG3 + PCLN1 + hypomagnesemia 3, with hypercalciuria and nephrocalcinosis + paracellin-1 + + + gene with protein product + + + + ClinVar + CLDN16 + + + Ensembl + ENSG00000113946 + + + Genatlas + CLDN16 + + + HGNC + 2037 + + + OMIM + 603959 + + + Reactome + Q9Y5I7 + + + SwissProt + Q9Y5I7 + + + + + 3q28 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 31112 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31112 + Dermatofibrosarcoma protuberans + + Disease + + + Disorder + + + + + + collagen type I alpha 1 chain + COL1A1 + + OI4 + + + gene with protein product + + + + ClinVar + COL1A1 + + + Ensembl + ENSG00000108821 + + + Genatlas + COL1A1 + + + HGNC + 2197 + + + OMIM + 120150 + + + Reactome + P02452 + + + SwissProt + P02452 + + + + + 17q21.33 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + platelet derived growth factor subunit B + PDGFB + + SSV + becaplermin + oncogene SIS + + + gene with protein product + + + + ClinVar + PDGFB + + + Ensembl + ENSG00000100311 + + + Genatlas + PDGFB + + + HGNC + 8800 + + + OMIM + 190040 + + + Reactome + P01127 + + + SwissProt + P01127 + + + + + 22q13.1 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 30924 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30924 + Primary hypomagnesemia with secondary hypocalcemia + + Disease + + + Disorder + + + + 12032570[PMID]_12032568[PMID] + + transient receptor potential cation channel subfamily M member 6 + TRPM6 + + CHAK2 + FLJ22628 + + + gene with protein product + + + + ClinVar + TRPM6 + + + Ensembl + ENSG00000119121 + + + Genatlas + TRPM6 + + + HGNC + 17995 + + + IUPHAR + 498 + + + OMIM + 607009 + + + Reactome + Q9BX84 + + + SwissProt + Q9BX84 + + + + + 9q21.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 30925 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30925 + Hereditary arginine vasopressin deficiency + + Clinical subtype + + + Subtype of disorder + + + + 14673472[PMID] + + arginine vasopressin + AVP + + ADH + antidiuretic hormone + copeptin + diabetes insipidus + neurohypophyseal + neurophysin II + prepro-AVP-NP II + prepro-arginine-vasopressin-neurophysin II + argipressin + + + gene with protein product + + + + ClinVar + AVP + + + Ensembl + ENSG00000101200 + + + Genatlas + AVP + + + HGNC + 894 + + + OMIM + 192340 + + + Reactome + P01185 + + + SwissProt + P01185 + + + + + 20p13 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 476084 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476084 + BVES-related limb-girdle muscular dystrophy + + Disease + + + Disorder + + + + 26642364[PMID] + + popeye domain cAMP effector 1 + POPDC1 + + POPDC1 + HBVES + POP1 + popeye domain containing 1 + + + gene with protein product + + + + Genatlas + BVES + + + HGNC + 1152 + + + SwissProt + Q8NE79 + + + ClinVar + BVES + + + Ensembl + ENSG00000112276 + + + OMIM + 604577 + + + + + 6q21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 476096 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476096 + Erythrokeratodermia-cardiomyopathy syndrome + + Disease + + + Disorder + + + + 26604139[PMID] + + desmoplakin + DSP + + DP + DPI + DPII + KPPS2 + PPKS2 + + + gene with protein product + + + + ClinVar + DSP + + + Ensembl + ENSG00000096696 + + + Genatlas + DSP + + + HGNC + 3052 + + + OMIM + 125647 + + + Reactome + P15924 + + + SwissProt + P15924 + + + + + 6p24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 476093 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476093 + HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome + + Disease + + + Disorder + + + + 26718575[PMID] + + heat shock protein family B (small) member 8 + HSPB8 + + CMT2L + E2IG1 + H11 + HSP22 + HspB8 + + + gene with protein product + + + + ClinVar + HSPB8 + + + Ensembl + ENSG00000152137 + + + Genatlas + HSPB8 + + + HGNC + 30171 + + + OMIM + 608014 + + + Reactome + Q9UJY1 + + + SwissProt + Q9UJY1 + + + + + 12q24.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 71278 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71278 + Congenital brain dysgenesis due to glutamine synthetase deficiency + + Disease + + + Disorder + + + + 16267323[PMID] + + glutamate-ammonia ligase + GLUL + + glutamine synthetase + + + gene with protein product + + + + Ensembl + ENSG00000135821 + + + Genatlas + GLUL + + + HGNC + 4341 + + + OMIM + 138290 + + + Reactome + P15104 + + + SwissProt + P15104 + + + ClinVar + GLUL + + + + + 1q25.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 71271 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71271 + Split hand-split foot-deafness syndrome + + Malformation syndrome + + + Disorder + + + + 22121204[PMID] + + distal-less homeobox 5 + DLX5 + + + + gene with protein product + + + + Ensembl + ENSG00000105880 + + + Genatlas + DLX5 + + + HGNC + 2918 + + + OMIM + 600028 + + + SwissProt + P56178 + + + ClinVar + DLX5 + + + + + 7q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 71275 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71275 + Rh deficiency syndrome + + Disease + + + Disorder + + + + 9657766[PMID]_9657769[PMID] + + Rh blood group CcEe antigens + RHCE + + CD240CE + SLC42A4 + + + gene with protein product + + + + ClinVar + RHCE + + + Ensembl + ENSG00000188672 + + + Genatlas + RHCE + + + HGNC + 10008 + + + OMIM + 111700 + + + SwissProt + P18577 + + + + + 1p36.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 9657769[PMID] + + Rh blood group D antigen + RHD + + CD240D + DIIIc + Rh30a + Rh4 + RhII + RhPI + SLC42A5 + + + gene with protein product + + + + ClinVar + RHD + + + Ensembl + ENSG00000187010 + + + Genatlas + RHD + + + HGNC + 10009 + + + OMIM + 111680 + + + SwissProt + Q02161 + + + + + 1p36.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 8563755[PMID]_9716608[PMID] + + Rh associated glycoprotein + RHAG + + CD241 + RH50A + SLC42A1 + Ammonium transporter Rh type A + + + gene with protein product + + + + ClinVar + RHAG + + + OMIM + 180297 + + + Reactome + Q02094 + + + SwissProt + Q02094 + + + Ensembl + ENSG00000112077 + + + Genatlas + RHAG + + + HGNC + 10006 + + + IUPHAR + 1198 + + + + + 6p12.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 71277 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71277 + Classic glucose transporter type 1 deficiency syndrome + + Disease + + + Disorder + + + + 20301603[PMID]_23890838[PMID] + + solute carrier family 2 member 1 + SLC2A1 + + DYT18 + DYT9 + GLUT-1 + dystonia gene 18 + dystonia gene 9 + + + gene with protein product + + + + ClinVar + SLC2A1 + + + IUPHAR + 875 + + + Ensembl + ENSG00000117394 + + + Genatlas + SLC2A1 + + + HGNC + 11005 + + + OMIM + 138140 + + + Reactome + P11166 + + + SwissProt + P11166 + + + + + 1p34.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 71212 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71212 + Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency + + Disease + + + Disorder + + + + + + hydroxyacyl-CoA dehydrogenase + HADH + + HADH1 + SCHAD + + + gene with protein product + + + + ClinVar + HADH + + + Ensembl + ENSG00000138796 + + + Genatlas + HADH + + + HGNC + 4799 + + + OMIM + 601609 + + + Reactome + Q16836 + + + SwissProt + Q16836 + + + + + 4q25 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 70592 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70592 + Transient predisposition to invasive pyogenic bacterial infection + + Disease + + + Disorder + + + + 31301515[PMID] + + MYD88 innate immune signal transduction adaptor + MYD88 + + TLR adaptor MYD88 + + + gene with protein product + + + + ClinVar + MYD88 + + + Ensembl + ENSG00000172936 + + + Genatlas + MYD88 + + + HGNC + 7562 + + + OMIM + 602170 + + + Reactome + Q99836 + + + SwissProt + Q99836 + + + + + 3p22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + interleukin 1 receptor associated kinase 4 + IRAK4 + + NY-REN-64 + + + gene with protein product + + + + ClinVar + IRAK4 + + + Ensembl + ENSG00000198001 + + + Genatlas + IRAK4 + 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Ensembl + ENSG00000107815 + + + Genatlas + C10orf2 + + + HGNC + 1160 + + + OMIM + 606075 + + + Reactome + Q96RR1 + + + SwissProt + Q96RR1 + + + ClinVar + C10orf2 + + + + + 10q24.31 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 70594 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70594 + Dopa-responsive dystonia due to sepiapterin reductase deficiency + + Disease + + + Disorder + + + + + + sepiapterin reductase + SPR + + Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming) + short chain dehydrogenase/reductase family 38C, member 1 + SDR38C1 + + + gene with protein product + + + + Genatlas + SPR + + + HGNC + 11257 + + + OMIM + 182125 + + + Reactome + P35270 + + + SwissProt + P35270 + + + Ensembl + ENSG00000116096 + + + IUPHAR + 3020 + + + ClinVar + SPR + + + + + 2p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 70573 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70573 + Small cell lung cancer + + Disease + + + Disorder + + + + 26168399[PMID] + + RB transcriptional corepressor 1 + RB1 + + PPP1R130 + RB + prepro-retinoblastoma-associated protein + protein phosphatase 1, regulatory subunit 130 + + + gene with protein product + + + + ClinVar + RB1 + + + SwissProt + P06400 + + + Ensembl + ENSG00000139687 + + + Genatlas + RB1 + + + HGNC + 9884 + + + OMIM + 614041 + + + Reactome + P06400 + + + + + 13q14.2 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 26168399[PMID] + + tumor protein p53 + TP53 + + LFS1 + Li-Fraumeni syndrome + P53 + p53 + + + gene with protein product + + + + Ensembl + ENSG00000141510 + + + Genatlas + TP53 + + + HGNC + 11998 + + + OMIM + 191170 + + + Reactome + P04637 + + + SwissProt + P04637 + + + ClinVar + TP53 + + + + + 17p13.1 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 26168399[PMID] + + tumor protein p73 + TP73 + + P73 + + + gene with protein product + + + + OMIM + 601990 + + + 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OMIM + 300248 + + + Reactome + Q9Y6K9 + + + SwissProt + Q9Y6K9 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 69085 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69085 + Limb-mammary syndrome + + Malformation syndrome + + + Disorder + + + + 11462173[PMID] + + tumor protein p63 + TP63 + + NBP + OFC8 + SHFM4 + p51 + p53CP + p63 + p73H + p73L + p40 + EEC3 + KET + + + gene with protein product + + + + Ensembl + ENSG00000073282 + + + Genatlas + TP63 + + + HGNC + 15979 + + + OMIM + 603273 + + + Reactome + Q9H3D4 + + + SwissProt + Q9H3D4 + + + ClinVar + TP63 + + + + + 3q28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 69084 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69084 + Pure hair and nail ectodermal dysplasia + + Malformation syndrome + + + Disorder + + + + 16525032[PMID] + + keratin 85 + KRT85 + + Hb-5 + hard keratin type II + + + gene with protein product + + + + 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69076 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69076 + Familial renal glucosuria + + Disease + + + Disorder + + + + 14614622[PMID]_21165652[PMID]_24255686[PMID] + + solute carrier family 5 member 2 + SLC5A2 + + + + gene with protein product + + + + Ensembl + ENSG00000140675 + + + Genatlas + SLC5A2 + + + HGNC + 11037 + + + IUPHAR + 916 + + + OMIM + 182381 + + + Reactome + P31639 + + + SwissProt + P31639 + + + ClinVar + SLC5A2 + + + + + 16p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 69063 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69063 + Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization + + Disease + + + Disorder + + + + 15464186[PMID] + + membrane metalloendopeptidase + MME + + CALLA + CD10 + enkephalinase + NEP + neprilysin + neutral endopeptidase + + + gene with protein product + + + + HGNC + 7154 + + + OMIM + 120520 + + + Genatlas + MME + + + SwissProt 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MIC13 + QIL1 + P117 + MIC12 + + + gene with protein product + + + + OMIM + 616658 + + + SwissProt + Q5XKP0 + + + Ensembl + ENSG00000174917 + + + Reactome + Q5XKP0 + + + HGNC + 33702 + + + + + 19p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301646[PMID] + + outer mitochondrial membrane lipid metabolism regulator OPA3 + OPA3 + + FLJ22187 + MGA3 + 3-methylglutaconic aciduria type III + + + gene with protein product + + + + Ensembl + ENSG00000125741 + + + Genatlas + OPA3 + + + HGNC + 8142 + + + OMIM + 606580 + + + SwissProt + Q9H6K4 + + + ClinVar + OPA3 + + + + + 19q13.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 67044 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67044 + Thrombocytopenia with congenital dyserythropoietic anemia + + Disease + + + Disorder + + + + + + GATA binding protein 1 + GATA1 + + ERYF1 + GATA-1 + NF-E1 + NFE1 + nuclear factor, erythroid 1 + + + gene with protein product + + 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C1q and TNF related 5 + C1QTNF5 + + CTRP5 + DKFZp586B0621 + LORD + myonectin + complement-c1q tumor necrosis factor-related protein 5 + + + gene with protein product + + + + Ensembl + ENSG00000223953 + + + Genatlas + C1QTNF5 + + + HGNC + 14344 + + + OMIM + 608752 + + + SwissProt + Q9BXJ0 + + + ClinVar + C1QTNF5 + + + + + 11q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 67041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041 + Hyaluronidase deficiency + + Disease + + + Disorder + + + + 10339581[PMID] + + hyaluronidase 1 + HYAL1 + + FUS2 + HYAL-1 + LUCA1 + NAT6 + + + gene with protein product + + + + ClinVar + HYAL1 + + + HGNC + 5320 + + + OMIM + 607071 + + + Reactome + Q12794 + + + SwissProt + Q12794 + + + Ensembl + ENSG00000114378 + + + Genatlas + HYAL1 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 67038 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67038 + B-cell chronic lymphocytic leukemia + + Disease + + + Disorder + + + + 12493261[PMID] + + purinergic receptor P2X 7 + P2RX7 + + MGC20089 + P2X7 + + + gene with protein product + + + + OMIM + 602566 + + + Genatlas + P2RX7 + + + SwissProt + Q99572 + + + Reactome + Q99572 + + + Ensembl + ENSG00000089041 + + + IUPHAR + 484 + + + HGNC + 8537 + + + ClinVar + P2RX7 + + + + + 12q24.31 + 1 + + + + + Biomarker tested in + + + Assessed + + + + 22464020[PMID]_23637131[PMID]_22875913[PMID]_21372840[PMID] + + immunoglobulin heavy variable 3-21 + IGHV3-21 + + + + gene with protein product + + + + HGNC + 5586 + + + Ensembl + ENSG00000211947 + + + Genatlas + IGHV3-21 + + + SwissProt + A0A0B4J1V1 + + + ClinVar + IGHV3-21 + + + + + 14q32.33 + 1 + + + + + Biomarker tested in + + + Assessed + + + + 10397742[PMID] + + ATM serine/threonine kinase + ATM + + TEL1 + TEL1, telomere maintenance 1, homolog (S. cerevisiae) + TELO1 + + + gene with protein product + + + + ClinVar + ATM + + + SwissProt + Q13315 + + + Ensembl + ENSG00000149311 + + + Genatlas + ATM + + + HGNC + 795 + + + IUPHAR + 1934 + + + OMIM + 607585 + + + Reactome + Q13315 + + + + + 11q22.3 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + cyclin D1 + CCND1 + + B-cell CLL/lymphoma 1 + G1/S-specific cyclin D1 + U21B31 + parathyroid adenomatosis 1 + + + gene with protein product + + + + Ensembl + ENSG00000110092 + + + Genatlas + CCND1 + + + HGNC + 1582 + + + OMIM + 168461 + + + Reactome + P24385 + + + SwissProt + P24385 + + + ClinVar + CCND1 + + + + + 11q13.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 21435757[PMID]_17920683[PMID]_16737921[PMID]_16938579[PMID]_21205967[PMID] + + tumor protein p53 + TP53 + + LFS1 + Li-Fraumeni syndrome + P53 + p53 + + + gene with protein product + + + + Ensembl + ENSG00000141510 + + + Genatlas + TP53 + + + HGNC + 11998 + + + OMIM + 191170 + + + Reactome + P04637 + + + SwissProt + P04637 + + + ClinVar + TP53 + + + + + 17p13.1 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 15843669[PMID] + + ARF like GTPase 11 + ARL11 + + ARLTS1 + FLJ33930 + ADP-ribosylation factor-like tumor suppressor gene 1 + + + gene with protein product + + + + ClinVar + ARL11 + + + Ensembl + ENSG00000152213 + + + Genatlas + ARL11 + + + HGNC + 24046 + + + OMIM + 609351 + + + SwissProt + Q969Q4 + + + + + 13q14.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + immunoglobulin heavy constant gamma 1 (G1m marker) + IGHG1 + + + + gene with protein product + + + + ClinVar + IGHG1 + + + Ensembl + ENSG00000211896 + + + Genatlas + IGHG1 + + + HGNC + 5525 + + + OMIM + 147100 + + + Reactome + P01857 + + + SwissProt + P01857 + + + + + 14q32.33 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 23502782[PMID] + + protection of telomeres 1 + POT1 + + DKFZp586D211 + hPot1 + + + gene with protein product + + + + Ensembl + ENSG00000128513 + + + Genatlas + POT1 + + + HGNC + 17284 + + + OMIM + 606478 + + + Reactome + Q9NUX5 + + + SwissProt + Q9NUX5 + + + ClinVar + POT1 + + + + + 7q31.33 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Not yet assessed + + + + 26466571[PMID]_26675346[PMID] + + ribosomal protein S15 + RPS15 + + 40S ribosomal protein S15 + MGC111130 + RIG + S15 + homolog of rat insulinoma + insulinoma protein + uS19 + + + gene with protein product + + + + Ensembl + ENSG00000115268 + + + Genatlas + RPS15 + + + HGNC + 10388 + + + OMIM + 180535 + + + Reactome + P62841 + + + SwissProt + P62841 + + + ClinVar + RPS15 + + + + + 19p13.3 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 26466571[PMID] + + IKAROS family zinc finger 3 + IKZF3 + + Aiolos + + + gene with protein product + + + + Ensembl + ENSG00000161405 + + + Genatlas + IKZF3 + + + HGNC + 13178 + + + OMIM + 606221 + + + SwissProt + Q9UKT9 + + + Reactome + Q9UKT9 + + + ClinVar + IKZF3 + + + + + 17q12-q21.1 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 67036 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67036 + Autosomal dominant optic atrophy and cataract + + Disease + + + Disorder + + + + 15342707[PMID] + + outer mitochondrial membrane lipid metabolism regulator OPA3 + OPA3 + + FLJ22187 + MGA3 + 3-methylglutaconic aciduria type III + + + gene with protein product + + + + Ensembl + ENSG00000125741 + + + Genatlas + OPA3 + + + HGNC + 8142 + + + OMIM + 606580 + + + SwissProt + Q9H6K4 + + + ClinVar + OPA3 + + + + + 19q13.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 66637 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66637 + Diaphanospondylodysostosis + + Malformation syndrome + + + Disorder + + + + 20869035[PMID]_21990102[PMID] + + BMP binding endothelial regulator + BMPER + + CRIM3 + Cv2 + crossveinless-2 + + + gene with protein product + + + + Ensembl + ENSG00000164619 + + + Genatlas + BMPER + + + HGNC + 24154 + + + OMIM + 608699 + + + SwissProt + Q8N8U9 + + + ClinVar + BMPER + + + + + 7p14.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 66634 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66634 + Dilated cardiomyopathy with ataxia + + Disease + + + Disorder + + + + 16055927[PMID] + + DnaJ heat shock protein family (Hsp40) member C19 + DNAJC19 + + mitochondrial import inner membrane translocase subunit TIM14 + Pam18 + TIMM14 + Tim14 + + + gene with protein product + + + + ClinVar + DNAJC19 + + + Ensembl + ENSG00000205981 + + + Genatlas + DNAJC19 + + + HGNC + 30528 + + + OMIM + 608977 + + + Reactome + Q96DA6 + + + SwissProt + Q96DA6 + + + + + 3q26.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 66631 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66631 + CEDNIK syndrome + + Disease + + + Disorder + + + + 15968592[PMID]_21073448[PMID] + + synaptosome associated protein 29 + SNAP29 + + CEDNIK + SNAP-29 + cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome + soluble 29 kDa NSF attachment protein + + + gene with protein product + + + + Reactome + O95721 + + + ClinVar + SNAP29 + + + Ensembl + ENSG00000099940 + + + Genatlas + SNAP29 + + + HGNC + 11133 + + + OMIM + 604202 + + + SwissProt + O95721 + + + + + 22q11.21 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 66629 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629 + Goldberg-Shprintzen megacolon syndrome + + Malformation syndrome + + + Disorder + + + + 15883926[PMID]_23427148[PMID] + + kinesin family binding protein + KIFBP + + DKFZP586B0923 + KBP + TTC20 + kinesin binding protein + + + gene with protein product + + + + Ensembl + ENSG00000198954 + + + HGNC + 23419 + + + OMIM + 609367 + + + Genatlas + KIF1BP + + + ClinVar + KIF1BP + + + SwissProt + Q96EK5 + + + + + 10q22.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 66628 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66628 + Obesity due to congenital leptin deficiency + + Etiological subtype + + + Subtype of disorder + + + + 26567097[PMID] + + leptin + LEP + + + + gene with protein product + + + + ClinVar + LEP + + + Ensembl + ENSG00000174697 + + + Genatlas + LEP + + + HGNC + 6553 + + + OMIM + 164160 + + + Reactome + P41159 + + + SwissProt + P41159 + + + + + 7q32.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 65282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65282 + Carvajal syndrome + + Disease + + + Disorder + + + + 11063735[PMID] + + desmoplakin + DSP + + DP + DPI + DPII + KPPS2 + PPKS2 + + + gene with protein product + + + + ClinVar + DSP + + + Ensembl + ENSG00000096696 + + + Genatlas + DSP + + + HGNC + 3052 + + + OMIM + 125647 + + + Reactome + P15924 + + + SwissProt + P15924 + + + + + 6p24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 65285 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65285 + Lhermitte-Duclos disease + + Clinical subtype + + + Subtype of disorder + + + + 14566704[PMID] + + phosphatase and tensin homolog + PTEN + + MMAC1 + PTEN1 + TEP1 + mutated in multiple advanced cancers 1 + Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN + + + gene with protein product + + + + IUPHAR + 2497 + + + ClinVar + PTEN + + + HGNC + 9588 + + + OMIM + 601728 + + + Reactome + P60484 + + + SwissProt + P60484 + + + Ensembl + ENSG00000171862 + + + Genatlas + PTEN + + + + + 10q23.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 65284 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65284 + Biotin-thiamine-responsive basal ganglia disease + + Disease + + + Disorder + + + + 24260777[PMID] + + solute carrier family 19 member 3 + SLC19A3 + + THTR2 + thiamine transporter 2 + hTHTR2 + thTr-2 + + + gene with protein product + + + + SwissProt + Q9BZV2 + + + Ensembl + ENSG00000135917 + + + Genatlas + SLC19A3 + + + HGNC + 16266 + + + OMIM + 606152 + + + Reactome + Q9BZV2 + + + ClinVar + SLC19A3 + + + IUPHAR + 1016 + + + + + 2q36.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 65287 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65287 + Beta-ureidopropionase deficiency + + Disease + + + Disorder + + + + 15385443[PMID] + + beta-ureidopropionase 1 + UPB1 + + BUP1 + + + gene with protein product + + + + ClinVar + UPB1 + + + Ensembl + ENSG00000100024 + + + Genatlas + UPB1 + + + HGNC + 16297 + + + OMIM + 606673 + + + Reactome + Q9UBR1 + + + SwissProt + Q9UBR1 + + + + + 22q11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 65288 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65288 + Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome + + Malformation syndrome 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protein 126 + CEP126 + + + + gene with protein product + + + + Reactome + Q9P2H0 + + + ClinVar + KIAA1377 + + + SwissProt + Q9P2H0 + + + Ensembl + ENSG00000110318 + + + Genatlas + KIAA1377 + + + HGNC + 29264 + + + OMIM + 614634 + + + + + 11q22.1 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 65748 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65748 + Multiple self-healing squamous epithelioma + + Disease + + + Disorder + + + + 21358634[PMID] + + transforming growth factor beta receptor 1 + TGFBR1 + + ALK5 + TBRI + TBR-i + ACVRLK4 + ALK-5 + activin A receptor type II-like kinase, 53kDa + + + gene with protein product + + + + ClinVar + TGFBR1 + + + Ensembl + ENSG00000106799 + + + Genatlas + TGFBR1 + + + HGNC + 11772 + + + IUPHAR + 1788 + + + OMIM + 190181 + + + Reactome + P36897 + + + SwissProt + P36897 + + + + + 9q22.33 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 65743 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65743 + Autosomal dominant multiple pterygium syndrome + + Malformation syndrome + + + Disorder + + + + 25957469[PMID] + + myosin heavy chain 3 + MYH3 + + HEMHC + MYHC-EMB + MYHSE1 + SMHCE + muscle embryonic myosin heavy chain 3 + myosin, skeletal, heavy chain, embryonic 1 + + + gene with protein product + + + + ClinVar + MYH3 + + + Ensembl + ENSG00000109063 + + + Genatlas + MYH3 + + + HGNC + 7573 + + + OMIM + 160720 + + + Reactome + P11055 + + + SwissProt + P11055 + + + + + 17p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 65759 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65759 + Carpenter syndrome + + Malformation syndrome + + + Disorder + + + + 23063620[PMID] + + multiple EGF like domains 8 + MEGF8 + + FLJ22365 + HBV pre s2 binding protein 1 + SBP1 + + + gene with protein product + + + + Ensembl + ENSG00000105429 + + + Genatlas + MEGF8 + + + HGNC + 3233 + + + OMIM + 604267 + + + SwissProt + Q7Z7M0 + + + ClinVar + MEGF8 + + + + + 19q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 17503333[PMID]_21412941[PMID] + + RAB23, member RAS oncogene family + RAB23 + + + + gene with protein product + + + + Reactome + Q9ULC3 + + + Ensembl + ENSG00000112210 + + + Genatlas + RAB23 + + + HGNC + 14263 + + + OMIM + 606144 + + + SwissProt + Q9ULC3 + + + ClinVar + RAB23 + + + + + 6p12.1-p11.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 64748 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64748 + Dejerine-Sottas syndrome + + Disease + + + Disorder + + + + 18698610[PMID]_12090401[PMID] + + peripheral myelin protein 22 + PMP22 + + GAS3 + HNPP + Sp110 + HMSNIA + + + gene with protein product + + + + Reactome + Q01453 + + + ClinVar + PMP22 + + + Ensembl + ENSG00000109099 + + + Genatlas + PMP22 + + + HGNC + 9118 + + + OMIM + 601097 + + + SwissProt + Q01453 + + + + + 17p12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 11133365[PMID] + + periaxin + PRX + + KIAA1620 + + + gene with protein product + + + + ClinVar + PRX + + + Ensembl + ENSG00000105227 + + + Genatlas + PRX + + + HGNC + 13797 + + + OMIM + 605725 + + + SwissProt + Q9BXM0 + + + + + 19q13.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 11523566[PMID] + + early growth response 2 + EGR2 + + Krox-20 homolog, Drosophila + + + gene with protein product + + + + ClinVar + EGR2 + + + Ensembl + ENSG00000122877 + + + Genatlas + EGR2 + + + HGNC + 3239 + + + OMIM + 129010 + + + Reactome + P11161 + + + SwissProt + P11161 + + + + + 10q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 8816708[PMID]_12242557[PMID] + + myelin protein zero + MPZ + + CMT2I + CMT2J + HMSNIB + P0 + + + gene with protein product + + + + ClinVar + MPZ + + + Ensembl + ENSG00000158887 + + + Genatlas + MPZ + + + HGNC + 7225 + + + OMIM + 159440 + + + SwissProt + P25189 + + + + + 1q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 64751 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64751 + Hereditary motor and sensory neuropathy type 5 + + Disease + + + Disorder + + + + + + mitofusin 2 + MFN2 + + CMT2A2 + CPRP1 + KIAA0214 + MARF + + + gene with protein product + + + + Ensembl + ENSG00000116688 + + + Genatlas + MFN2 + + + HGNC + 16877 + + + OMIM + 608507 + + + Reactome + O95140 + + + SwissProt + O95140 + + + IUPHAR + 3131 + + + ClinVar + MFN2 + + + + + 1p36.22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 562509 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562509 + Heme oxygenase-1 deficiency + + Disease + + + Disorder + + + + 31216709[PMID] + + heme oxygenase 1 + HMOX1 + + HO-1 + bK286B10 + + + gene with protein product + + + + Genatlas + HMOX1 + + + HGNC + 5013 + + + Reactome + P09601 + + + IUPHAR 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+ 162030 + + + Reactome + P01138 + + + ClinVar + NGF + + + SwissProt + P01138 + + + + + 1p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 64753 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64753 + Spinocerebellar ataxia with axonal neuropathy type 2 + + Disease + + + Disorder + + + + 20301333[PMID]_14770181[PMID] + + senataxin + SETX + + Sen1 + AOA2 + KIAA0625 + STEX + + + gene with protein product + + + + ClinVar + SETX + + + OMIM + 608465 + + + SwissProt + Q7Z333 + + + Ensembl + ENSG00000107290 + + + Genatlas + SETX + + + HGNC + 445 + + + Reactome + Q7Z333 + + + + + 9q34.13 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 22065524[PMID] + + phosphoinositide-3-kinase regulatory subunit 5 + PIK3R5 + + P101-PI3K + p101 + + + gene with protein product + + + + ClinVar + PIK3R5 + + + Ensembl + ENSG00000141506 + + + Genatlas + PIK3R5 + + + HGNC + 30035 + + + OMIM + 611317 + + + Reactome + Q8WYR1 + + + SwissProt + Q8WYR1 + + + IUPHAR + 2506 + + + + + 17p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 64754 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64754 + Nevus comedonicus syndrome + + Disease + + + Disorder + + + + 27153399[PMID] + + NIMA related kinase 9 + NEK9 + + DKFZp434D0935 + MGC16714 + Nek8 + NERCC + NERCC1 + + + gene with protein product + + + + HGNC + 18591 + + + OMIM + 609798 + + + Genatlas + NEK9 + + + SwissProt + Q8TD19 + + + Reactome + Q8TD19 + + + Ensembl + ENSG00000119638 + + + IUPHAR + 2124 + + + ClinVar + NEK9 + + + + + 14q24.3 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 562528 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562528 + Congenital limbs-face contractures-hypotonia-developmental delay syndrome + + Malformation syndrome + + + Disorder + + + + 31410997[PMID] + + sodium leak channel, non-selective + NALCN + + CanIon + bA430M15.1 + + + gene with protein product + + + + ClinVar + NALCN + + + Ensembl + ENSG00000102452 + + + Genatlas + NALCN + + + HGNC + 19082 + + + OMIM + 611549 + + + Reactome + Q8IZF0 + + + SwissProt + Q8IZF0 + + + IUPHAR + 750 + + + + + 13q32.3-q33.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 64755 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64755 + Becker nevus syndrome + + Disease + + + Disorder + + + + 28347698[PMID] + + actin beta + ACTB + + ß-actin + + + gene with protein product + + + + ClinVar + ACTB + + + Ensembl + ENSG00000075624 + + + Genatlas + ACTB + + + HGNC + 132 + + + OMIM + 102630 + + + Reactome + P60709 + + + SwissProt + P60709 + + + + + 7p22.1 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 562559 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562559 + Anterior maxillary protrusion-strabismus-intellectual disability syndrome + + Malformation syndrome + + + Disorder + + + + 17618476[PMID]_21035105[PMID] + + sine oculis binding protein homolog + SOBP + + FLJ10159 + + + gene with protein product + + + + OMIM + 613667 + + + Genatlas + SOBP + + + SwissProt + A7XYQ1 + + + HGNC + 29256 + + + Ensembl + ENSG00000112320 + + + ClinVar + SOBP + + + + + 6q21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 562538 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562538 + Autosomal recessive extra-oral halitosis + + Disease + + + Disorder + + + + 29255262[PMID] + + selenium binding protein 1 + SELENBP1 + + hSP56 + hSBP + LPSB + methanethiol oxidase + + + gene with protein product + + + + HGNC + 10719 + + + Ensembl + ENSG00000143416 + + + SwissProt + Q13228 + + + Reactome + Q13228 + + + OMIM + 604188 + + + + + 1q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 562569 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562569 + TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome + + Malformation syndrome + + + Disorder + + + + 30526828[PMID] + + transmembrane protein 94 + TMEM94 + + ERMA + ER Mg2+ ATPase + + + gene with protein product + + + + HGNC + 28983 + + + Ensembl + ENSG00000177728 + + + SwissProt + Q12767 + + + Reactome + Q12767 + + + OMIM + 618163 + + + + + 17q25.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 64280 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64280 + Childhood absence epilepsy + + Disease + + + Disorder + + + + 16718694[PMID] + + gamma-aminobutyric acid type A receptor subunit alpha1 + GABRA1 + + EJM5 + GABA(A) receptor, alpha 1 + + + gene with protein product + + + + ClinVar + GABRA1 + + + OMIM + 137160 + + + Reactome + P14867 + + + SwissProt + P14867 + + + Ensembl + ENSG00000022355 + + + Genatlas + GABRA1 + + + HGNC + 4075 + + + IUPHAR + 404 + + + + + 5q34 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + gamma-aminobutyric acid type A receptor subunit gamma2 + GABRG2 + + GABA(A) receptor, gamma 2 + + + gene with protein product + + + + ClinVar + GABRG2 + + + Ensembl + ENSG00000113327 + + + Genatlas + GABRG2 + + + HGNC + 4087 + + + IUPHAR + 414 + + + OMIM + 137164 + + + Reactome + P18507 + + + SwissProt + P18507 + + + + + 5q34 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 18514161[PMID]_20550555[PMID] + + gamma-aminobutyric acid type A receptor subunit beta3 + GABRB3 + + GABA(A) receptor, beta 3 + + + gene with protein product + + + + ClinVar + GABRB3 + + + Ensembl + ENSG00000166206 + + + Genatlas + GABRB3 + + + HGNC + 4083 + + + IUPHAR + 412 + + + OMIM + 137192 + + + Reactome + P28472 + + + SwissProt + P28472 + + + + + 15q12 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 12891677[PMID] + + calcium voltage-gated channel subunit alpha1 H + CACNA1H + + Cav3.2 + + + gene with protein product + + + + Ensembl + ENSG00000196557 + + + Genatlas + CACNA1H + + + HGNC + 1395 + + + IUPHAR + 536 + + + OMIM + 607904 + + + Reactome + O95180 + + + SwissProt + O95180 + + + ClinVar + CACNA1H + + + + + 16p13.3 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 11463517[PMID] + + Jrk helix-turn-helix protein + JRK + + JH8 + jerky + + + gene with protein product + + + + ClinVar + JRK + + + Reactome + O75564 + + + HGNC + 6199 + + + OMIM + 603210 + + + SwissProt + O75564 + + + Ensembl + ENSG00000234616 + + + Genatlas + JRK + + + + + 8q24.3 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 64739 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64739 + Ovarian hyperstimulation syndrome + + Disease + + + Disorder + + + + 19573286[PMID]_18248882[PMID] + + follicle stimulating hormone receptor + FSHR + + FSHRO + LGR1 + + + gene with protein product + + + + Ensembl + ENSG00000170820 + + + Genatlas + FSHR + + + HGNC + 3969 + + + IUPHAR + 253 + + + OMIM + 136435 + + + Reactome + P23945 + + + SwissProt + P23945 + + + ClinVar + FSHR + + + + + 2p16.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 63269 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269 + Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis + + Clinical subtype + + + Subtype of disorder + + + + 15483095[PMID] + + cytochrome p450 oxidoreductase + POR + + CYPOR + FLJ26468 + NADPH--hemoprotein reductase + + + gene with protein product + + + + Reactome + P16435 + + + ClinVar + POR + + + Ensembl + ENSG00000127948 + + + Genatlas + POR + + + HGNC + 9208 + + + OMIM + 124015 + + + SwissProt + P16435 + + + + + 7q11.23 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 63260 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63260 + Craniorachischisis + + Morphological anomaly + + + Disorder + + + + 22610794[PMID] + + dishevelled binding antagonist of beta catenin 1 + DACT1 + + DAPPER + DAPPER1 + FRODO + HDPR1 + THYEX3 + + + gene with protein product + + + + Ensembl + ENSG00000165617 + + + Genatlas + DACT1 + + + HGNC + 17748 + + + OMIM + 607861 + + + Reactome + Q9NYF0 + + + SwissProt + Q9NYF0 + + + ClinVar + DACT1 + + + + + 14q23.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 63442 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63442 + Angel-shaped phalango-epiphyseal dysplasia + + Malformation syndrome + + + Disorder + + + + 15173244[PMID]_22828428[PMID] + + growth differentiation factor 5 + GDF5 + + BMP14 + CDMP1 + cartilage-derived morphogenetic protein-1 + + + gene with protein product + + + + ClinVar + GDF5 + + + OMIM + 601146 + + + Reactome + P43026 + + + SwissProt + P43026 + + + Ensembl + ENSG00000125965 + + + Genatlas + GDF5 + + + HGNC + 4220 + + + + + 20q11.22 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 63273 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63273 + FLNC-related handgrip and calf weakness-distal myopathy + + Disease + + + Disorder + + + + 21620354[PMID] + + filamin C + FLNC + + ABP-280 + ABPL + actin binding protein 280 + gamma filamin + + + gene with protein product + + + + Ensembl + ENSG00000128591 + + + Genatlas + FLNC + + + HGNC + 3756 + + + OMIM + 102565 + + + Reactome + Q14315 + + + SwissProt + Q14315 + + + ClinVar + FLNC + + + + + 7q32.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 63446 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63446 + Acrocapitofemoral dysplasia + + Malformation syndrome + + + Disorder + + + + 12632327[PMID] + + Indian hedgehog signaling molecule + IHH + + BDA1 + HHG2 + + + gene with protein product + + + + ClinVar + IHH + + + Reactome + Q14623 + + + SwissProt + Q14623 + + + Ensembl + ENSG00000163501 + + + Genatlas + IHH + + + HGNC + 5956 + + + OMIM + 600726 + + + + + 2q35 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 60040 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60040 + Megalencephaly-capillary malformation-polymicrogyria syndrome + + Malformation syndrome + + + Disorder + + + + 22729224[PMID] + + phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha + PIK3CA + + PI3K + + + gene with protein product + + + + Reactome + P42336 + + + SwissProt + P42336 + + + Ensembl + ENSG00000121879 + + + Genatlas + PIK3CA + + + HGNC + 8975 + + + IUPHAR + 2153 + + + OMIM + 171834 + + + ClinVar + PIK3CA + + + + + 3q26.32 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 60033 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60033 + Idiopathic bronchiectasis + + Disease + + + Disorder + + + + 23781395[PMID]_25797027[PMID] + + CF transmembrane conductance regulator + CFTR + + MRP7 + TNR-CFTR + dJ760C5.1 + ABC35 + ATP-binding cassette sub-family C, member 7 + CFTR/MRP + + + gene with protein product + + + + Ensembl + ENSG00000001626 + + + Genatlas + CFTR + + + HGNC + 1884 + + + IUPHAR + 707 + + + OMIM + 602421 + + + Reactome + P13569 + + + SwissProt + P13569 + + + ClinVar + CFTR + + + + + 7q31.2 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 19462466[PMID] + + sodium channel epithelial 1 subunit alpha + SCNN1A + + amiloride-sensitive sodium channel subunit alpha + ENaCalpha + + + gene with protein product + + + + ClinVar + SCNN1A + + + Genatlas + SCNN1A + + + HGNC + 10599 + + + IUPHAR + 738 + + + OMIM + 600228 + + + Reactome + P37088 + + + SwissProt + P37088 + + + Ensembl + ENSG00000111319 + + + + + 12p13.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21658649[PMID]_18507830[PMID] + + sodium channel epithelial 1 subunit beta + SCNN1B + + amiloride-sensitive sodium channel subunit beta + ENaCbeta + Liddle syndrome + + + gene with protein product + + + + ClinVar + SCNN1B + + + Ensembl + ENSG00000168447 + + + Genatlas + SCNN1B + + + HGNC + 10600 + + + IUPHAR + 739 + + + OMIM + 600760 + + + Reactome + P51168 + + + SwissProt + P51168 + + + + + 16p12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21658649[PMID]_18507830[PMID] + + sodium channel epithelial 1 subunit gamma + SCNN1G + + amiloride-sensitive sodium channel subunit gamma + ENaCgamma + SCNEG + + + gene with protein product + + + + ClinVar + SCNN1G + + + Ensembl + ENSG00000166828 + + + Genatlas + SCNN1G + + + HGNC + 10602 + + + IUPHAR + 741 + + + OMIM + 600761 + + + Reactome + P51170 + + + SwissProt + P51170 + + + + + 16p12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 59303 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59303 + Neonatal ichthyosis-sclerosing cholangitis syndrome + + Disease + + + Disorder + + + + 15521008[PMID] + + claudin 1 + CLDN1 + + ILVASC + SEMP1 + senescence-associated epithelial membrane protein 1 + + + gene with protein product + + + + Ensembl + ENSG00000163347 + + + Genatlas + CLDN1 + + + HGNC + 2032 + + + OMIM + 603718 + + + Reactome + O95832 + + + SwissProt + O95832 + + + ClinVar + CLDN1 + + + + + 3q28 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 59306 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59306 + McLeod neuroacanthocytosis syndrome + + Disease + + + Disorder + + + + + + X-linked Kx blood group antigen, Kell and VPS13A binding protein + XK + + Kx + Kx antigen + McLeod syndrome + X1k + XKR1 + + + gene with protein product + + + + ClinVar + XK + + + Ensembl + ENSG00000047597 + + + Genatlas + XK + + + HGNC + 12811 + + + OMIM + 314850 + + + Reactome + P51811 + + + SwissProt + P51811 + + + + + Xp21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 60015 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60015 + Enlarged parietal foramina + + Malformation syndrome 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2 + SLC34A2 + + NAPI-IIb + NaPi2b + NPTIIb + NaPi-2b + NAPI-3B + Sodium-dependent phosphate transport protein 2B + + + gene with protein product + + + + IUPHAR + 1136 + + + Ensembl + ENSG00000157765 + + + Genatlas + SLC34A2 + + + HGNC + 11020 + + + OMIM + 604217 + + + Reactome + O95436 + + + SwissProt + O95436 + + + ClinVar + SLC34A2 + + + + + 4p15.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 564178 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564178 + Primary hypomagnesemia-refractory seizures-intellectual disability syndrome + + Disease + + + Disorder + + + + 30388404[PMID] + + ATPase Na+/K+ transporting subunit alpha 1 + ATP1A1 + + sodium pump subunit alpha-1 + sodium-potassium ATPase catalytic subunit alpha-1 + sodium/potassium-transporting ATPase subunit alpha-1 + + + gene with protein product + + + + IUPHAR + 833 + + + OMIM + 182310 + + + Reactome + P05023 + + + SwissProt + P05023 + + + ClinVar + ATP1A1 + 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product + + + + Ensembl + ENSG00000133704 + + + OMIM + 605600 + + + SwissProt + O15397 + + + HGNC + 9853 + + + + + 12p11.21 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 15731757[PMID]_16928994[PMID] + + transforming growth factor beta receptor 1 + TGFBR1 + + ALK5 + TBRI + TBR-i + ACVRLK4 + ALK-5 + activin A receptor type II-like kinase, 53kDa + + + gene with protein product + + + + ClinVar + TGFBR1 + + + Ensembl + ENSG00000106799 + + + Genatlas + TGFBR1 + + + HGNC + 11772 + + + IUPHAR + 1788 + + + OMIM + 190181 + + + Reactome + P36897 + + + SwissProt + P36897 + + + + + 9q22.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 15731757[PMID]_16928994[PMID] + + transforming growth factor beta receptor 2 + TGFBR2 + + TBRII + TBR-ii + + + gene with protein product + + + + ClinVar + TGFBR2 + + + Ensembl + ENSG00000163513 + + + Genatlas + TGFBR2 + + + HGNC + 11773 + + + IUPHAR + 1795 + + + OMIM + 190182 + + + Reactome + P37173 + + + SwissProt + P37173 + + + + + 3p24.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 563708 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563708 + Syndromic congenital sodium diarrhea + + Disease + + + Disorder + + + + 26358773[PMID]_19185281[PMID] + + serine peptidase inhibitor, Kunitz type 2 + SPINT2 + + HAI-2 + Kop + placental bikunin + Kunitz domain containing protein overexpressed in pancreatic cancer + HAI2 + HGF activator inhibitor 2 + hepatocyte growth factor activator inhibitor-2 + + + gene with protein product + + + + Ensembl + ENSG00000167642 + + + Genatlas + SPINT2 + + + HGNC + 11247 + + + OMIM + 605124 + + + SwissProt + O43291 + + + Reactome + O43291 + + + ClinVar + SPINT2 + + + + + 19q13.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 59181 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59181 + Sorsby fundus dystrophy + + Disease + 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+ + 20q13.32 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 55595 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55595 + TNP03-related limb-girdle muscular dystrophy D2 + + Disease + + + Disorder + + + + 23543484[PMID] + + transportin 3 + TNPO3 + + IPO12 + MTR10A + TRN-SR + TRN-SR2 + importin 12 + + + gene with protein product + + + + ClinVar + TNPO3 + + + Ensembl + ENSG00000064419 + + + Genatlas + TNPO3 + + + HGNC + 17103 + + + OMIM + 610032 + + + SwissProt + Q9Y5L0 + + + + + 7q32.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 55596 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55596 + HNRNPDL-related limb-girdle muscular dystrophy D3 + + Disease + + + Disorder + + + + 24647604[PMID] + + heterogeneous nuclear ribonucleoprotein D like + HNRNPDL + + JKTBP + laAUF1 + + + gene with protein product + + + + Reactome + O14979 + + + Ensembl + ENSG00000152795 + + + Genatlas + HNRPDL + + + HGNC + 5037 + + + OMIM + 607137 + + + SwissProt + O14979 + + + ClinVar + HNRPDL + + + + + 4q21.22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 54595 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54595 + Craniopharyngioma + + Disease + + + Disorder + + + + 24413733[PMID] + + B-Raf proto-oncogene, serine/threonine kinase + BRAF + + BRAF1 + BRAF-1 + + + gene with protein product + + + + Ensembl + ENSG00000157764 + + + Genatlas + BRAF + + + HGNC + 1097 + + + IUPHAR + 1943 + + + OMIM + 164757 + + + Reactome + P15056 + + + SwissProt + P15056 + + + ClinVar + BRAF + + + + + 7q34 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 24413733[PMID] + + catenin beta 1 + CTNNB1 + + armadillo + beta-catenin + + + gene with protein product + + + + ClinVar + CTNNB1 + + + Ensembl + ENSG00000168036 + + + Genatlas + CTNNB1 + + + HGNC + 2514 + + + OMIM + 116806 + + + Reactome + P35222 + + + SwissProt + P35222 + + + + + 3p22.1 + 1 + + + + 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P42898 + + + SwissProt + P42898 + + + Ensembl + ENSG00000177000 + + + Genatlas + MTHFR + + + HGNC + 7436 + + + + + 1p36.22 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 563609 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563609 + Isolated anencephaly + + Clinical subtype + + + Subtype of disorder + + + + 31424828[PMID] + + VANGL planar cell polarity protein 2 + VANGL2 + + STB1 + STBM + STBM1 + loop-tail-associated protein + strabismus + vang, van gogh-like 2 + KIAA1215 + LPP1 + LTAP + MGC119403 + MGC119404 + + + gene with protein product + + + + Ensembl + ENSG00000162738 + + + Genatlas + VANGL2 + + + HGNC + 15511 + + + OMIM + 600533 + + + Reactome + Q9ULK5 + + + SwissProt + Q9ULK5 + + + ClinVar + VANGL2 + + + + + 1q23.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 31424828[PMID] + + methylenetetrahydrofolate reductase + MTHFR + + + + gene with protein product + + + + ClinVar + MTHFR + + + OMIM + 607093 + + + Reactome + P42898 + + + SwissProt + P42898 + + + Ensembl + ENSG00000177000 + + + Genatlas + MTHFR + + + HGNC + 7436 + + + + + 1p36.22 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 55880 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55880 + Chondrosarcoma + + Disease + + + Disorder + + + + + + exostosin glycosyltransferase 1 + EXT1 + + Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase + N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase + ttv + + + gene with protein product + + + + ClinVar + EXT1 + + + HGNC + 3512 + + + OMIM + 608177 + + + Reactome + Q16394 + + + SwissProt + Q16394 + + + Ensembl + ENSG00000182197 + + + Genatlas + EXT1 + + + + + 8q24.11 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 55654 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55654 + Hypotrichosis simplex + + Disease + + + Disorder + + + + 30401459[PMID] + + lanosterol synthase + LSS + + OSC + Oxidosqualene-lanosterol cyclase + + + gene with protein product + + + + Ensembl + ENSG00000160285 + + + Genatlas + LSS + + + HGNC + 6708 + + + IUPHAR + 2434 + + + OMIM + 600909 + + + Reactome + P48449 + + + SwissProt + P48449 + + + ClinVar + LSS + + + + + 21q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 18445047[PMID] + + lipase H + LIPH + + LPDLR + PLA1B + mPA-PLA1 + mPA-PLA1alpha + phospholipase A(1) + + + gene with protein product + + + + ClinVar + LIPH + + + Ensembl + ENSG00000163898 + + + Genatlas + LIPH + + + HGNC + 18483 + + + OMIM + 607365 + + + Reactome + Q8WWY8 + + + SwissProt + Q8WWY8 + + + + + 3q27.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20393562[PMID] + + APC down-regulated 1 + APCDD1 + + B7323 + + + gene with protein product + + + + Ensembl + ENSG00000154856 + + + Genatlas + APCDD1 + + + HGNC + 15718 + + + OMIM + 607479 + + + SwissProt + Q8J025 + + + ClinVar + APCDD1 + + + + + 18p11.22 + 1 + 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+ + Ensembl + ENSG00000139679 + + + Genatlas + P2RY5 + + + HGNC + 15520 + + + IUPHAR + 163 + + + OMIM + 609239 + + + Reactome + P43657 + + + SwissProt + P43657 + + + ClinVar + P2RY5 + + + + + 13q14.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 16770573[PMID] + + desmoglein 4 + DSG4 + + CDHF13 + LAH + + + gene with protein product + + + + ClinVar + DSG4 + + + Reactome + Q86SJ6 + + + Ensembl + ENSG00000175065 + + + Genatlas + DSG4 + + + HGNC + 21307 + + + OMIM + 607892 + + + SwissProt + Q86SJ6 + + + + + 18q12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 565837 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565837 + Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 + + Disease + + + Disorder + + + + 21953594[PMID] + + laminin subunit alpha 2 + LAMA2 + + congenital muscular dystrophy + merosin + + + gene with protein product + + + + ClinVar + LAMA2 + + + OMIM + 156225 + + + Reactome + P24043 + + + SwissProt + P24043 + + + Ensembl + ENSG00000196569 + + + Genatlas + LAMA2 + + + HGNC + 6482 + + + + + 6q22.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 565858 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565858 + Craniosynostosis-microretrognathia-severe intellectual disability syndrome + + Malformation syndrome + + + Disorder + + + + 29432562[PMID]_28942967[PMID]_30254215[PMID]_30455226[PMID] + + protein phosphatase 3 catalytic subunit alpha + PPP3CA + + calcineurin A alpha + CNA1 + PPP2B + protein phosphatase 2B, catalytic subunit, alpha isoform + + + gene with protein product + + + + ClinVar + PPP3CA + + + HGNC + 9314 + + + SwissProt + Q08209 + + + Ensembl + ENSG00000138814 + + + OMIM + 114105 + + + Genatlas + PPP3CA + + + Reactome + Q08209 + + + + + 4q24 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 565788 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565788 + Infantile inflammatory bowel disease with neurological involvement + + Disease + + + Disorder + + + + 29483653[PMID] + + transforming growth factor beta 1 + TGFB1 + + CED + Camurati-Engelmann disease + TGFbeta + prepro-transforming growth factor beta-1 + Diaphyseal dysplasia 1, progressive + + + gene with protein product + + + + ClinVar + TGFB1 + + + Ensembl + ENSG00000105329 + + + Genatlas + TGFB1 + + + HGNC + 11766 + + + OMIM + 190180 + + + Reactome + P01137 + + + SwissProt + P01137 + + + + + 19q13.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 565909 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565909 + Calpain-3-related limb-girdle muscular dystrophy D4 + + Disease + + + Disorder + + + + 28881388[PMID] + + calpain 3 + CAPN3 + + CANP3 + nCL-1 + p94 + + + gene with protein product + + + + Ensembl + ENSG00000092529 + + + Genatlas + CAPN3 + + + HGNC + 1480 + + + OMIM + 114240 + + + SwissProt + P20807 + + + Reactome + P20807 + + + ClinVar + CAPN3 + + + + + 15q15.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79233 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79233 + Hypoxanthine guanine phosphoribosyltransferase partial deficiency + + Disease + + + Disorder + + + + 10657589[PMID]_26073243[PMID] + + hypoxanthine phosphoribosyltransferase 1 + HPRT1 + + HGPRT + Lesch-Nyhan syndrome + hypoxanthine guanine phosphoribosyl transferase + + + gene with protein product + + + + Ensembl + ENSG00000165704 + + + Genatlas + HPRT1 + + + HGNC + 5157 + + + OMIM + 308000 + + + Reactome + P00492 + + + SwissProt + P00492 + + + ClinVar + HPRT1 + + + + + Xq26.2-q26.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79230 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79230 + HJV or HAMP-related hemochromatosis + + Disease + + + Disorder + + + + 20301349[PMID] + + hemojuvelin BMP co-receptor + HJV + + HFE2A + HJV + JH + RGMC + haemojuvelin + hemojuvelin + repulsive guidance molecule c + + + gene with protein product + + + + Ensembl + ENSG00000168509 + + + Genatlas + HFE2 + + + HGNC + 4887 + + + OMIM + 608374 + + + Reactome + Q6ZVN8 + + + SwissProt + Q6ZVN8 + + + ClinVar + HFE2 + + + + + 1q21.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 20301349[PMID] + + hepcidin antimicrobial peptide + HAMP + + HEPC + HFE2B + LEAP-1 + LEAP1 + + + gene with protein product + + + + ClinVar + HAMP + + + Ensembl + ENSG00000105697 + + + Genatlas + HAMP + + + HGNC + 15598 + + + OMIM + 606464 + + + SwissProt + P81172 + + + + + 19q13.12 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79237 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79237 + Galactokinase deficiency + + Disease + + + Disorder + + + + 10521295[PMID] + + galactokinase 1 + GALK1 + + + + gene with protein product + + + + ClinVar + GALK1 + + + Ensembl + ENSG00000108479 + + + Genatlas + GALK1 + + + HGNC + 4118 + + + OMIM + 604313 + + + Reactome + P51570 + + + SwissProt + P51570 + + + + + 17q25.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 566067 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566067 + CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome + + Disease + + + Disorder + + + + 31201888[PMID] + + CCAAT enhancer binding protein epsilon + CEBPE + + CRP1 + + + gene with protein product + + + + ClinVar + CEBPE + + + Ensembl + ENSG00000092067 + + + Genatlas + CEBPE + + + HGNC + 1836 + + + OMIM + 600749 + + + SwissProt + Q15744 + + + + + 14q11.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 79234 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79234 + Crigler-Najjar syndrome type 1 + + Clinical subtype + + + Subtype of disorder + + + + 9039987[PMID]_9497253[PMID] + + UDP glucuronosyltransferase family 1 member A1 + UGT1A1 + + UGT1A + + + Disorder-associated locus + + + + IUPHAR + 2990 + + + HGNC + 12530 + + + OMIM + 191740 + + + Reactome + P22309 + + + SwissProt + P22309 + + + Ensembl + ENSG00000241635 + + + Genatlas + UGT1A1 + + + ClinVar + UGT1A1 + + + + + 2q37.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79235 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79235 + Crigler-Najjar syndrome type 2 + + Clinical subtype + + + Subtype of disorder + + + + 16456422[PMID]_17098698[PMID] + + UDP glucuronosyltransferase family 1 member A1 + UGT1A1 + + UGT1A + + + Disorder-associated locus + + + + IUPHAR + 2990 + + + HGNC + 12530 + + + OMIM + 191740 + + + Reactome + P22309 + + + SwissProt + P22309 + + + Ensembl + ENSG00000241635 + + + Genatlas + UGT1A1 + + + ClinVar + UGT1A1 + + + + + 2q37.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 565624 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565624 + Combined oxidative phosphorylation defect type 39 + + Disease + + + Disorder + + + + 22700954[PMID]_26016410[PMID]_29075935[PMID] + + GTP dependent ribosome recycling factor mitochondrial 2 + GFM2 + + EF-G2mt + FLJ21661 + EFG2 + ribosome releasing factor 2 + + + gene with protein product + + + + HGNC + 29682 + + + Genatlas + GFM2 + + + Reactome + Q969S9 + + + ClinVar + GFM2 + + + SwissProt + Q969S9 + + + Ensembl + ENSG00000164347 + + + OMIM + 606544 + + + + + 5q13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 565612 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565612 + Primary triglyceride deposit cardiomyovasculopathy + + Etiological subtype + + + Subtype of disorder + + + + 29539587[PMID]_31186072[PMID] + + patatin like domain 2, triacylglycerol lipase + PNPLA2 + + ATGL + FP17548 + TTS-2.2 + desnutrin + iPLA2zeta + adipose triglyceride lipase + + + gene with protein product + + + + IUPHAR + 3253 + + + Ensembl + ENSG00000177666 + + + Genatlas + PNPLA2 + + + HGNC + 30802 + + + OMIM + 609059 + + + Reactome + Q96AD5 + + + SwissProt + Q96AD5 + + + ClinVar + PNPLA2 + + + + + 11p15.5 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79157 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79157 + 2-methylbutyryl-CoA dehydrogenase deficiency + + Disease + + + Disorder + + + + 20547083[PMID] + + acyl-CoA dehydrogenase short/branched chain + ACADSB + + ACAD7 + SBCAD + + + gene with protein product + + + + ClinVar + ACADSB + + + Ensembl + ENSG00000196177 + + + Genatlas + ACADSB + + + HGNC + 91 + + + OMIM + 600301 + + + Reactome + P45954 + + + SwissProt + P45954 + + + + + 10q26.13 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79155 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79155 + Hydroxykynureninuria + + Disease + + + Disorder + + + + 17334708[PMID] + + kynureninase + KYNU + + L-kynurenine hydrolase + + + gene with protein product + + + + Ensembl + ENSG00000115919 + + + Genatlas + KYNU + + + HGNC + 6469 + + + OMIM + 605197 + + + Reactome + Q16719 + + + SwissProt + Q16719 + + + ClinVar + KYNU + + + + + 2q22.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79154 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79154 + 2-aminoadipic 2-oxoadipic aciduria + + Disease + + + Disorder + + + + 23141293[PMID] + + dehydrogenase E1 and transketolase domain containing 1 + DHTKD1 + + OADH-E1 + 2-oxoadipate dehydrogenase complex component E1 + E1a + CMT2Q + DKFZP762M115 + KIAA1630 + MGC3090 + OADC-E1 + + + gene with protein product + + + + Ensembl + ENSG00000181192 + + + Genatlas + DHTKD1 + + + HGNC + 23537 + + + OMIM + 614984 + + + Reactome + Q96HY7 + + + SwissProt + Q96HY7 + + + ClinVar + DHTKD1 + + + + + 10p14 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79152 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79152 + Disseminated superficial actinic porokeratosis + + Disease + + + Disorder + + + + 22983302[PMID]_26202976[PMID] + + mevalonate kinase + MVK + + LH receptor mRNA-binding protein + LRBP + MK + mevalonic aciduria + + + gene with protein product + + + + ClinVar + MVK + + + Ensembl + ENSG00000110921 + + + Genatlas + MVK + + + HGNC + 7530 + + + IUPHAR + 640 + + + OMIM + 251170 + + + Reactome + Q03426 + + + SwissProt + Q03426 + + + + + 12q24.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 25180256[PMID] + + solute carrier family 17 member 9 + SLC17A9 + + FLJ23412 + VNUT + + + gene with protein product + + + + Genatlas + SLC17A9 + + + HGNC + 16192 + + + OMIM + 612107 + + + SwissProt + Q9BYT1 + + + Ensembl + ENSG00000101194 + + + ClinVar + SLC17A9 + + + IUPHAR + 1010 + + + + + 20q13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26202976[PMID] + + mevalonate diphosphate decarboxylase + MVD + + MPD + diphosphomevalonate decarboxylase + mevalonate pyrophosphate decarboxylase + + + gene with protein product + + + + ClinVar + MVD + + + Ensembl + ENSG00000167508 + + + Genatlas + MVD + + + HGNC + 7529 + + + IUPHAR + 642 + + + OMIM + 603236 + + + Reactome + P53602 + + + SwissProt + P53602 + + + + + 16q24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26202976[PMID] + + farnesyl diphosphate synthase + FDPS + + farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase + + + gene with protein product + + + + ClinVar + FDPS + + + Ensembl + ENSG00000160752 + + + Genatlas + FDPS + + + HGNC + 3631 + + + IUPHAR + 644 + + + OMIM + 134629 + + + Reactome + P14324 + + + SwissProt + P14324 + + + + + 1q22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79151 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79151 + Acrokeratosis verruciformis of Hopf + + Disease + + + Disorder + + + + 12542527[PMID] + + ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 + ATP2A2 + + SERCA2 + calcium pump 2 + sarcoplasmic/endoplasmic reticulum calcium ATPase 2 + + + gene with protein product + + + + Ensembl + ENSG00000174437 + + + Genatlas + ATP2A2 + + + HGNC + 812 + + + OMIM + 108740 + + + Reactome + P16615 + + + SwissProt + P16615 + + + IUPHAR + 841 + + + ClinVar + ATP2A2 + + + + + 12q24.11 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79146 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79146 + Familial progressive hyperpigmentation + + Disease + + + Disorder + + + + 19375057[PMID] + + KIT ligand + KITLG + + SLF + FPH2 + KL-1 + Kitl + SCF + SF + familial progressive hyperpigmentation 2 + mast cell growth factor + steel factor + stem cell factor + DFNA69 + + + gene with protein product + + + + Ensembl + ENSG00000049130 + + + Genatlas + KITLG + + + HGNC + 6343 + + + OMIM + 184745 + + + Reactome + P21583 + + + SwissProt + P21583 + + + ClinVar + KITLG + + + + + 12q21.32 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 79145 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79145 + Dowling-Degos disease + + Disease + + + Disorder + + + + 28287404[PMID] + + presenilin enhancer, gamma-secretase subunit + PSENEN + + PEN2 + + + gene with protein product + + + + Ensembl + ENSG00000205155 + + + Genatlas + PSENEN + + + HGNC + 30100 + + + OMIM + 607632 + + + Reactome + Q9NZ42 + + + SwissProt + Q9NZ42 + + + ClinVar + PSENEN + + + + + 19q13.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 16465624[PMID] + + keratin 5 + KRT5 + + KRT5A + CK-5 + + + gene with protein product + + + + ClinVar + KRT5 + + + Ensembl + ENSG00000186081 + + + Genatlas + KRT5 + + + HGNC + 6442 + + + OMIM + 148040 + + + Reactome + P13647 + + + SwissProt + P13647 + + + + + 12q13.13 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 23684010[PMID] + + protein O-fucosyltransferase 1 + POFUT1 + + FUT12 + GDP-fucose protein O-fucosyltransferase 1 + KIAA0180 + O-FUT + O-Fuc-T + Peptide-O-fucosyltransferase + peptide-O-fucosyltransferase + + + gene with protein product + + + + Genatlas + POFUT1 + + + HGNC + 14988 + + + OMIM + 607491 + + + Reactome + Q9H488 + + + SwissProt + Q9H488 + + + Ensembl + ENSG00000101346 + + + ClinVar + POFUT1 + + + + + 20q11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24387993[PMID] + + protein O-glucosyltransferase 1 + POGLUT1 + + 9630046K23Rik + KDELC family like 1 + KDELCL1 + MDS010 + MDSRP + MGC32995 + Rumi + hCLP46 + + + gene with protein product + + + + Ensembl + ENSG00000163389 + + + Genatlas + POGLUT1 + + + HGNC + 22954 + + + OMIM + 615618 + + + Reactome + Q8NBL1 + + + SwissProt + Q8NBL1 + + + ClinVar + POGLUT1 + + + + + 3q13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79159 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79159 + Isobutyryl-CoA dehydrogenase deficiency + + Disease + + + Disorder + + + + 24635911[PMID] + + acyl-CoA dehydrogenase family member 8 + ACAD8 + + isobutyryl-CoA dehydrogenase + + + gene with protein product + + + + ClinVar + ACAD8 + + + Ensembl + ENSG00000151498 + + + Genatlas + ACAD8 + + + HGNC + 87 + + + OMIM + 604773 + + + Reactome + Q9UKU7 + + + SwissProt + Q9UKU7 + + + + + 11q25 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79107 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79107 + Developmental malformations-deafness-dystonia syndrome + + Malformation syndrome + + + Disorder + + + + 16685646[PMID] + + actin beta + ACTB + + ß-actin + + + gene with protein product + + + + ClinVar + ACTB + + + Ensembl + ENSG00000075624 + + + Genatlas + ACTB + + + HGNC + 132 + + + OMIM + 102630 + + + Reactome + P60709 + + + SwissProt + P60709 + + + + + 7p22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 566231 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566231 + Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha + + Disease + + + Disorder + + + + 25670821[PMID] + + thyroid hormone receptor alpha + THRA + + THRalpha2 + THRalpha1 + THRalpha + AR7 + EAR-7.1/EAR-7.2 + ERBA + NR1A1 + THRA3 + TRalpha2 + c-erbA + nuclear receptor subfamily 1 group A member 1 + c-erbA protooncogene + c-ERBA-1 + TRalpha1 + TRalpha + + + gene with protein product + + + + ClinVar + THRA + + + IUPHAR + 588 + + + OMIM + 190120 + + + Reactome + P10827 + + + SwissProt + P10827 + + + Ensembl + ENSG00000126351 + + + Genatlas + THRA + + + HGNC + 11796 + + + + + 17q21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79106 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79106 + Eiken syndrome + + Malformation syndrome + + + Disorder + + + + 15525660[PMID] + + parathyroid hormone 1 receptor + PTH1R + + + + gene with protein product + + + + ClinVar + PTH1R + + + Reactome + Q03431 + + + SwissProt + Q03431 + + + Ensembl + ENSG00000160801 + + + Genatlas + PTH1R + + + HGNC + 9608 + + + IUPHAR + 331 + + + OMIM + 168468 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 566243 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566243 + Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta + + Disease + + + Disorder + + + + 30976996[PMID] + + thyroid hormone receptor beta + THRB + + ERBA-BETA + GRTH + NR1A2 + THR1 + THRB1 + THRB2 + avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2 + generalized resistance to thyroid hormone + oncogene ERBA2 + thyroid hormone receptor beta 1 + TRb + nuclear receptor subfamily 1 group A member 2 + THRbeta1 + c-erbA-beta + THRbeta + c-erbA-2 + TRbeta + TRbeta1 + Thrbeta2 + + + gene with protein product + + + + ClinVar + THRB + + + SwissProt + P10828 + + + Ensembl + ENSG00000151090 + + + Genatlas + THRB + + + HGNC + 11799 + + + IUPHAR + 589 + + + OMIM + 190160 + + + Reactome + P10828 + + + + + 3p24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79118 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79118 + Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome + + Disease + + + Disorder + + + + 16715098[PMID] + + GLIS family zinc finger 3 + GLIS3 + + MGC33662 + Gli-similar 3 + + + gene with protein product + + + + ClinVar + GLIS3 + + + Ensembl + ENSG00000107249 + + + Genatlas + GLIS3 + + + HGNC + 28510 + + + OMIM + 610192 + + + SwissProt + Q8NEA6 + + + + + 9p24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 566393 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566393 + Acute mast cell leukemia + + Clinical subtype + + + Subtype of disorder + + + + 25729733[PMID]_22324351[PMID] + + KIT proto-oncogene, receptor tyrosine kinase + KIT + + C-Kit + CD117 + SCFR + mast/stem cell growth factor receptor Kit + + + gene with protein product + + + + ClinVar + KIT + + + Ensembl + ENSG00000157404 + + + Genatlas + KIT + + + HGNC + 6342 + + + IUPHAR + 1805 + + + OMIM + 164920 + + + Reactome + P10721 + + + SwissProt + P10721 + + + + + 4q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79113 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79113 + Mandibulofacial dysostosis-microcephaly syndrome + + Malformation syndrome + + + Disorder + + + + 22305528[PMID]_24999515[PMID] + + elongation factor Tu GTP binding domain containing 2 + EFTUD2 + + 116 kDa U5 small nuclear ribonucleoprotein component + SNRNP116 + Snrp116 + Snu114 + U5 snRNP specific protein, 116 kD + U5-116KD + + + gene with protein product + + + + Ensembl + ENSG00000108883 + + + Genatlas + EFTUD2 + + + HGNC + 30858 + + + OMIM + 603892 + + + Reactome + Q15029 + + + SwissProt + Q15029 + + + ClinVar + EFTUD2 + + + + + 17q21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79102 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79102 + Thyrotoxic periodic paralysis + + Disease + + + Disorder + + + + 15001631[PMID] + + calcium voltage-gated channel subunit alpha1 S + CACNA1S + + Cav1.1 + hypoPP + + + gene with protein product + + + + Ensembl + ENSG00000081248 + + + Genatlas + CACNA1S + + + HGNC + 1397 + + + IUPHAR + 528 + + + OMIM + 114208 + + + Reactome + Q13698 + + + SwissProt + Q13698 + + + ClinVar + CACNA1S + + + + + 1q32.1 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 17970773[PMID] + + gamma-aminobutyric acid type A receptor subunit alpha3 + GABRA3 + + GABA(A) receptor, alpha 3 + + + gene with protein product + + + + IUPHAR + 406 + + + OMIM + 305660 + + + Reactome + P34903 + + + SwissProt + P34903 + + + ClinVar + GABRA3 + + + Ensembl + ENSG00000011677 + + + Genatlas + GABRA3 + + + HGNC + 4077 + + + + + Xq28 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 20074522[PMID] + + potassium inwardly rectifying channel subfamily J member 18 + KCNJ18 + + KIR2.6 + TTPP2 + + + gene with protein product + + + + ClinVar + KCNJ18 + + + Ensembl + ENSG00000260458 + + + Genatlas + KCNJ18 + + + HGNC + 39080 + + + OMIM + 613236 + + + SwissProt + B7U540 + + + + + 17p11.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 79105 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79105 + Myxofibrosarcoma + + Disease + + + Disorder + + + + + + FUS RNA binding protein + FUS + + FUS1 + HNRNPP2 + TLS + heterogeneous nuclear ribonucleoprotein P2 + hnRNP-P2 + translocated in liposarcoma + + + gene with protein product + + + + ClinVar + FUS + + + Ensembl + ENSG00000089280 + + + Genatlas + FUS + + + HGNC + 4010 + + + OMIM + 137070 + + + Reactome + P35637 + + + SwissProt + P35637 + + + + + 16p11.2 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + cAMP responsive element binding protein 3 like 2 + CREB3L2 + + BBF2H7 + TCAG_1951439 + BBF2 human homolog on chromosome 7 + + + gene with protein product + + + + ClinVar + CREB3L2 + + + Reactome + Q70SY1 + + + Ensembl + ENSG00000182158 + + + Genatlas + CREB3L2 + + + HGNC + 23720 + + + OMIM + 608834 + + + SwissProt + Q70SY1 + + + + + 7q33 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + cAMP responsive element binding protein 3 like 1 + CREB3L1 + + BBF-2 homolog (drosophila) + OASIS + old astrocyte specifically induced substance + + + gene with protein product + + + + Reactome + Q96BA8 + + + ClinVar + CREB3L1 + + + Ensembl + ENSG00000157613 + + + Genatlas + CREB3L1 + + + HGNC + 18856 + + + OMIM + 616215 + + + SwissProt + Q96BA8 + + + + + 11p11.2 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 79101 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79101 + Hyperprolinemia type 2 + + Disease + + + Disorder + + + + 9700195[PMID] + + aldehyde dehydrogenase 4 family member A1 + ALDH4A1 + + P5CDh + Delta-1-pyrroline-5-carboxylate dehydrogenase + L-glutamate gamma-semialdehyde dehydrogenase + + + gene with protein product + + + + Ensembl + ENSG00000159423 + + + Genatlas + ALDH4A1 + + + HGNC + 406 + + + OMIM + 606811 + + + Reactome + P30038 + + + SwissProt + P30038 + + + ClinVar + ALDH4A1 + + + + + 1p36.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 566192 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566192 + Congenital autosomal recessive small-platelet thrombocytopenia + + Disease + + + Disorder + + + + 25876182[PMID] + + FYN binding protein 1 + FYB1 + + ADAP + adhesion and degranulation promoting adaptor protein + FYB-120/130 + SLAP-130 + + + gene with protein product + + + + HGNC + 4036 + + + Ensembl + ENSG00000082074 + + + SwissProt + O15117 + + + OMIM + 602731 + + + Reactome + O15117 + + + + + 5p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79100 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79100 + Atrophoderma vermiculata + + Disease + + + Disorder + + + + 26142438[PMID] + + LDL receptor related protein 1 + LRP1 + + APOER + CD91 + LRP + LRP1A + transforming growth factor-alpha receptor type V + transforming growth factor-ß receptor type V + transforming growth factor-β receptor type V + + + gene with protein product + + + + Ensembl + ENSG00000123384 + + + Genatlas + LRP1 + + + HGNC + 6692 + + + OMIM + 107770 + + + Reactome + Q07954 + + + SwissProt + Q07954 + + + ClinVar + LRP1 + + + + + 12q13.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79095 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79095 + Congenital bile acid synthesis defect type 4 + + Disease + + + Disorder + + + + 18577977[PMID] + + alpha-methylacyl-CoA racemase + AMACR + + P504S + RACE + + + gene with protein product + + + + ClinVar + AMACR + + + Ensembl + ENSG00000242110 + + + Genatlas + AMACR + + + HGNC + 451 + + + OMIM + 604489 + + + Reactome + Q9UHK6 + + + SwissProt + Q9UHK6 + + + + + 5p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79094 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79094 + Grange syndrome + + Malformation syndrome + + + Disorder + + + + 27939641[PMID] + + YY1 associated protein 1 + YY1AP1 + + HCCA2 + YAP + YY1AP + + + gene with protein product + + + + SwissProt + Q9H869 + + + Ensembl + ENSG00000163374 + + + OMIM + 607860 + + + Genatlas + YY1AP1 + + + HGNC + 30935 + + + Reactome + Q9H869 + + + ClinVar + YY1AP1 + + + + + 1q22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 566175 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566175 + Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome + + Disease + + + Disorder + + + + 30565236[PMID] + + CD55 molecule (Cromer blood group) + CD55 + + CR + CROM + TC + + + gene with protein product + + + + IUPHAR + 3246 + + + SwissProt + P08174 + + + Ensembl + ENSG00000196352 + + + HGNC + 2665 + + + OMIM + 125240 + + + + + 1q32.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79096 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79096 + Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy + + Disease + + + Disorder + + + + 15772097[PMID] + + pyridoxamine 5'-phosphate oxidase + PNPO + + PDXPO + pyridoxal 5'-phosphate synthase + + + gene with protein product + + + + ClinVar + PNPO + + + Ensembl + ENSG00000108439 + + + Genatlas + PNPO + + + HGNC + 30260 + + + OMIM + 603287 + + + Reactome + Q9NVS9 + + + SwissProt + Q9NVS9 + + + + + 17q21.32 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79134 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79134 + DEND syndrome + + Disease + + + Disorder + + + + 22498247[PMID]_21109997[PMID] + + ATP binding cassette subfamily C member 8 + ABCC8 + + ABC36 + HHF1 + HI + MRP8 + PHHI + SUR1 + TNDM2 + sulfonylurea receptor (hyperinsulinemia) + + + gene with protein product + + + + ClinVar + ABCC8 + + + Ensembl + ENSG00000006071 + + + Genatlas + ABCC8 + + + HGNC + 59 + + + IUPHAR + 2594 + + + OMIM + 600509 + + + Reactome + Q09428 + + + SwissProt + Q09428 + + + + + 11p15.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22498247[PMID]_17652641[PMID]_22145471[PMID]_23382304[PMID]_24150202[PMID]_24912436[PMID] + + potassium inwardly rectifying channel subfamily J member 11 + KCNJ11 + + ATP-sensitive inward rectifier potassium channel 11 + BIR + Kir6.2 + beta-cell inward rectifier + + + gene with protein product + + + + Ensembl + ENSG00000187486 + + + Genatlas + KCNJ11 + + + HGNC + 6257 + + + IUPHAR + 442 + + + OMIM + 600937 + + + Reactome + Q14654 + + + SwissProt + Q14654 + + + ClinVar + KCNJ11 + + + + + 11p15.1 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 35703918[PMID] + + asparaginyl-tRNA synthetase 2, mitochondrial + NARS2 + + FLJ23441 + SLM5 + asparagine tRNA ligase 2, mitochondrial (putative) + + + gene with protein product + + + + Ensembl + ENSG00000137513 + + + HGNC + 26274 + + + OMIM + 612803 + + + Reactome + Q96I59 + + + SwissProt + Q96I59 + + + + + 11q14.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79137 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79137 + Generalized epilepsy-paroxysmal dyskinesia syndrome + + Disease + + + Disorder + + + + 15937479[PMID] + + potassium calcium-activated channel subfamily M alpha 1 + KCNMA1 + + BK channel alpha subunit + KCa1.1 + big potassium channel alpha subunit + mSLO1 + maxiK channel + + + gene with protein product + + + + Ensembl + ENSG00000156113 + + + Genatlas + KCNMA1 + + + HGNC + 6284 + + + IUPHAR + 380 + + + OMIM + 600150 + + + Reactome + Q12791 + + + SwissProt + Q12791 + + + ClinVar + KCNMA1 + + + + + 10q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79124 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79124 + Hepatic veno-occlusive disease-immunodeficiency syndrome + + Disease + + + Disorder + + + + 16648851[PMID] + + SP110 nuclear body protein + SP110 + + + + gene with protein product + + + + ClinVar + SP110 + + + IUPHAR + 2778 + + + Ensembl + ENSG00000135899 + + + Genatlas + SP110 + + + HGNC + 5401 + + + OMIM + 604457 + + + SwissProt + Q9HB58 + + + + + 2q37.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 566396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566396 + Chronic mast cell leukemia + + Clinical subtype + + + Subtype of disorder + + + + 25729733[PMID]_22324351[PMID] + + KIT proto-oncogene, receptor tyrosine kinase + KIT + + C-Kit + CD117 + SCFR + mast/stem cell growth factor receptor Kit + + + gene with protein product + + + + ClinVar + KIT + + + Ensembl + ENSG00000157404 + + + Genatlas + KIT + + + HGNC + 6342 + + + IUPHAR + 1805 + + + OMIM + 164920 + + + Reactome + P10721 + + + SwissProt + P10721 + + + + + 4q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 77293 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77293 + Chronic visceral acid sphingomyelinase deficiency + + Disease + + + Disorder + + + + 19405096[PMID] + + sphingomyelin phosphodiesterase 1 + SMPD1 + + ASM + acid sphingomyelinase + Niemann-Pick type A/B + + + gene with protein product + + + + IUPHAR + 2514 + + + Ensembl + ENSG00000166311 + + + Genatlas + SMPD1 + + + HGNC + 11120 + + + OMIM + 607608 + + + Reactome + P17405 + + + SwissProt + P17405 + + + ClinVar + SMPD1 + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 77295 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77295 + Odontoleukodystrophy + + Clinical subtype + + + Subtype of disorder + + + + 21855841[PMID]_22855961[PMID] + + RNA polymerase III subunit A + POLR3A + + RPC1 + RPC155 + hRPC155 + C160 + + + gene with protein product + + + + ClinVar + POLR3A + + + Ensembl + ENSG00000148606 + + + Genatlas + POLR3A + + + HGNC + 30074 + + + OMIM + 614258 + + + Reactome + O14802 + + + SwissProt + O14802 + + + + + 10q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 77261 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261 + Gaucher disease type 3 + + Clinical subtype + + + Subtype of disorder + + + + 20301446[PMID] + + glucosylceramidase beta 1 + GBA1 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77298 + Anophthalmia/microphthalmia-esophageal atresia syndrome + + Malformation syndrome + + + Disorder + + + + 24033328[PMID] + + SRY-box transcription factor 2 + SOX2 + + + + gene with protein product + + + + ClinVar + SOX2 + + + Ensembl + ENSG00000181449 + + + Genatlas + SOX2 + + + HGNC + 11195 + + + OMIM + 184429 + + + Reactome + P48431 + + + SwissProt + P48431 + + + + + 3q26.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 77297 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77297 + Majeed syndrome + + Disease + + + Disorder + + + + + + lipin 2 + LPIN2 + + KIAA0249 + Phosphatidate phosphatase LPIN2 + + + gene with protein product + + + + ClinVar + LPIN2 + + + Ensembl + ENSG00000101577 + + + Genatlas + LPIN2 + + + HGNC + 14450 + + + OMIM + 605519 + + + Reactome + Q92539 + + + SwissProt + Q92539 + + + IUPHAR + 1436 + + + + + 18p11.31 + 1 + + + + + Disease-causing germline 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75327 + North Carolina macular dystrophy + + Disease + + + Disorder + + + + 26507665[PMID] + + DNase1 hypersensitivity, chromosome 6, site 1 + DHS6S1 + + + + Disorder-associated locus + + + + OMIM + 616842 + + + + + 6q16.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 75373 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75373 + Progressive bifocal chorioretinal atrophy + + Disease + + + Disorder + + + + 30710461[PMID] + + DNase1 hypersensitivity, chromosome 6, site 1 + DHS6S1 + + + + Disorder-associated locus + + + + OMIM + 616842 + + + + + 6q16.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 75374 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75374 + Bradyopsia + + Disease + + + Disorder + + + + 14702087[PMID] + + regulator of G protein signaling 9 binding protein + RGS9BP + + FLJ45744 + PERRS + R9AP + RGS9 + + + gene with 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minichromosome maintenance complex component 4 + MCM4 + + DNA replication licensing factor MCM4 + CDC54 + MGC33310 + P1-Cdc21 + hCdc21 + + + gene with protein product + + + + SwissProt + P33991 + + + Ensembl + ENSG00000104738 + + + Genatlas + MCM4 + + + HGNC + 6947 + + + OMIM + 602638 + + + Reactome + P33991 + + + ClinVar + MCM4 + + + + + 8q11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 75392 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75392 + Periodontal Ehlers-Danlos syndrome + + Disease + + + Disorder + + + + 27745832[PMID] + + complement C1s + C1S + + + + gene with protein product + + + + ClinVar + C1S + + + Ensembl + ENSG00000182326 + + + Genatlas + C1S + + + HGNC + 1247 + + + IUPHAR + 2335 + + + OMIM + 120580 + + + Reactome + P09871 + + + SwissProt + P09871 + + + + + 12p13.31 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 27745832[PMID] + + complement C1r + C1R + + + + gene 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Disease-causing germline mutation(s) in + + + Assessed + + + + + + 75564 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75564 + Acquired idiopathic sideroblastic anemia + + Disease + + + Disorder + + + + 19557078[PMID]_19483684[PMID] + + tet methylcytosine dioxygenase 2 + TET2 + + FLJ20032 + ten-eleven translocation 2 + + + gene with protein product + + + + ClinVar + TET2 + + + Ensembl + ENSG00000168769 + + + Genatlas + TET2 + + + HGNC + 25941 + + + OMIM + 612839 + + + Reactome + Q6N021 + + + SwissProt + Q6N021 + + + + + 4q24 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 24507814[PMID] + + splicing factor 3b subunit 1 + SF3B1 + + Hsh155 + PRPF10 + Prp10 + SAP155 + SF3b155 + + + gene with protein product + + + + SwissProt + O75533 + + + Ensembl + ENSG00000115524 + + + Genatlas + SF3B1 + + + HGNC + 10768 + + + OMIM + 605590 + + + Reactome + O75533 + + + ClinVar + SF3B1 + + + + + 2q33.1 + 1 + + + + + Disease-causing somatic mutation(s) in + + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75234 + Cholesteryl ester storage disease + + Clinical subtype + + + Subtype of disorder + + + + 22227072[PMID]_26225414[PMID] + + lipase A, lysosomal acid type + LIPA + + CESD + LAL + Wolman disease + lysosomal acid lipase + sterol esterase + + + gene with protein product + + + + Reactome + P38571 + + + ClinVar + LIPA + + + Ensembl + ENSG00000107798 + + + Genatlas + LIPA + + + HGNC + 6617 + + + OMIM + 613497 + + + SwissProt + P38571 + + + + + 10q23.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 75233 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75233 + Wolman disease + + Clinical subtype + + + Subtype of disorder + + + + 22227072[PMID]_26225414[PMID] + + lipase A, lysosomal acid type + LIPA + + CESD + LAL + Wolman disease + lysosomal acid lipase + sterol esterase + + + gene with protein product + + + + Reactome + P38571 + + + ClinVar + LIPA + + + 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aml1 oncogene + + + gene with protein product + + + + ClinVar + RUNX1 + + + Ensembl + ENSG00000159216 + + + Genatlas + RUNX1 + + + HGNC + 10471 + + + OMIM + 151385 + + + Reactome + Q01196 + + + SwissProt + Q01196 + + + + + 21q22.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 568062 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568062 + PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis + + Disease + + + Disorder + + + + 26333996[PMID]_33227434[PMID] + + piezo type mechanosensitive ion channel component 1 (Er blood group) + PIEZO1 + + KIAA0233 + + + gene with protein product + + + + IUPHAR + 2945 + + + ClinVar + PIEZO1 + + + Ensembl + ENSG00000103335 + + + Genatlas + PIEZO1 + + + HGNC + 28993 + + + OMIM + 611184 + + + SwissProt + Q92508 + + + + + 16q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 71493 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71493 + Familial thrombocytosis + + Disease + + + Disorder + + + + + + thrombopoietin + THPO + + MPL ligand + MPLLG + TPO + c-mpl ligand + megakaryocyte colony-stimulating factor + megakaryocyte growth and development factor + megakaryocyte stimulating factor + myeloproliferative leukemia virus oncogene ligand + prepro-thrombopoietin + thrombopoietin nirs + + + gene with protein product + + + + ClinVar + THPO + + + Ensembl + ENSG00000090534 + + + Genatlas + THPO + + + HGNC + 11795 + + + OMIM + 600044 + + + Reactome + P40225 + + + SwissProt + P40225 + + + + + 3q27.1 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 22397670[PMID] + + Janus kinase 2 + JAK2 + + JTK10 + + + gene with protein product + + + + Ensembl + ENSG00000096968 + + + Genatlas + JAK2 + + + HGNC + 6192 + + + IUPHAR + 2048 + + + OMIM + 147796 + + + Reactome + O60674 + + + SwissProt + O60674 + + + ClinVar + JAK2 + + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71526 + Obesity due to pro-opiomelanocortin deficiency + + Etiological subtype + + + Subtype of disorder + + + + 24354022[PMID] + + proopiomelanocortin + POMC + + beta-endorphin + beta-lipotropin + beta-melanocyte stimulating hormone + opiomelanocortin prepropeptide + ACTH + CLIP + LPH + MSH + NPP + POC + adrenocorticotropic hormone + adrenocorticotropin + alpha-melanocyte stimulating hormone + corticotropin + + + gene with protein product + + + + Ensembl + ENSG00000115138 + + + Genatlas + POMC + + + HGNC + 9201 + + + OMIM + 176830 + + + Reactome + P01189 + + + SwissProt + P01189 + + + ClinVar + POMC + + + + + 2p23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 71528 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71528 + Obesity due to prohormone convertase I deficiency + + Etiological subtype + + + Subtype of disorder + + + + 9207799[PMID]_17595246[PMID] + + proprotein convertase subtilisin/kexin type 1 + PCSK1 + + prohormone convertase 3 + proprotein convertase 1 + PC1/3 + PC1 + PC3 + SPC3 + prohormone convertase 1 + proprotein convertase 1/3 + + + gene with protein product + + + + IUPHAR + 2382 + + + OMIM + 162150 + + + Reactome + P29120 + + + SwissProt + P29120 + + + Ensembl + ENSG00000175426 + + + Genatlas + PCSK1 + + + HGNC + 8743 + + + ClinVar + PCSK1 + + + + + 5q15 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 71529 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71529 + Obesity due to melanocortin 4 receptor deficiency + + Etiological subtype + + + Subtype of disorder + + + + 10903343[PMID] + + melanocortin 4 receptor + MC4R + + + + gene with protein product + + + + Ensembl + ENSG00000166603 + + + Genatlas + MC4R + + + HGNC + 6932 + + + IUPHAR + 285 + + + OMIM + 155541 + + + Reactome + P32245 + + + SwissProt + P32245 + + + ClinVar + MC4R + + + + + 18q21.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 569164 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569164 + Angiomatoid fibrous histiocytoma + + Disease + + + Disorder + + + + 28114920[PMID] + + cAMP responsive element binding protein 1 + CREB1 + + + + gene with protein product + + + + OMIM + 123810 + + + Reactome + P16220 + + + SwissProt + P16220 + + + Ensembl + ENSG00000118260 + + + Genatlas + CREB1 + + + HGNC + 2345 + + + ClinVar + CREB1 + + + + + 2q33.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 28114920[PMID] + + EWS RNA binding protein 1 + EWSR1 + + EWS + + + gene with protein product + + + + Reactome + Q01844 + + + Ensembl + ENSG00000182944 + + + Genatlas + EWSR1 + + + HGNC + 3508 + + + OMIM + 133450 + + + SwissProt + Q01844 + + + ClinVar + EWSR1 + + + + + 22q12.2 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 71517 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71517 + Rapid-onset dystonia-parkinsonism 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product + + + + HGNC + 9119 + + + Ensembl + ENSG00000105819 + + + SwissProt + O75439 + + + Reactome + O75439 + + + OMIM + 603131 + + + + + 7q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 569248 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569248 + Microcystic stromal tumor + + Disease + + + Disorder + + + + 28551672[PMID] + + catenin beta 1 + CTNNB1 + + armadillo + beta-catenin + + + gene with protein product + + + + ClinVar + CTNNB1 + + + Ensembl + ENSG00000168036 + + + Genatlas + CTNNB1 + + + HGNC + 2514 + + + OMIM + 116806 + + + Reactome + P35222 + + + SwissProt + P35222 + + + + + 3p22.1 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 73229 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73229 + HANAC syndrome + + Disease + + + Disorder + + + + 18160688[PMID]_20301768[PMID] + + collagen type IV alpha 1 chain + COL4A1 + + + + gene with protein product + + + + ClinVar + COL4A1 + + + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37042 + Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome + + Disease + + + Disorder + + + + 11137993[PMID] + + forkhead box P3 + FOXP3 + + AIID + DIETER + JM2 + PIDX + SCURFIN + XPID + + + gene with protein product + + + + ClinVar + FOXP3 + + + Reactome + Q9BZS1 + + + Ensembl + ENSG00000049768 + + + Genatlas + FOXP3 + + + HGNC + 6106 + + + OMIM + 300292 + + + SwissProt + Q9BZS1 + + + + + Xp11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 36899 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36899 + Myoclonus-dystonia syndrome + + Disease + + + Disorder + + + + + + sarcoglycan epsilon + SGCE + + + + gene with protein product + + + + ClinVar + SGCE + + + Ensembl + ENSG00000127990 + + + Genatlas + SGCE + + + HGNC + 10808 + + + OMIM + 604149 + + + SwissProt + O43556 + + + + + 7q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + 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nucleotidase deficiency + + Disease + + + Disorder + + + + 11369620[PMID]_12714505[PMID] + + 5'-nucleotidase, cytosolic IIIA + NT5C3A + + hUMP1 + lupin + p36 + cytosolic 5'-nucleotidase 3A + P5'N-1 + PN-I + POMP + PSN1 + UMPH + UMPH1 + cN-III + + + gene with protein product + + + + IUPHAR + 1237 + + + ClinVar + NT5C3A + + + Ensembl + ENSG00000122643 + + + Genatlas + NT5C3A + + + HGNC + 17820 + + + OMIM + 606224 + + + Reactome + Q9H0P0 + + + SwissProt + Q9H0P0 + + + + + 7p14.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 35107 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35107 + Desmosterolosis + + Disease + + + Disorder + + + + 21671375[PMID] + + 24-dehydrocholesterol reductase + DHCR24 + + KIAA0018 + seladin-1 + 3beta-hydroxysterol delta24 reductase + Delta(24)-sterol reductase + + + gene with protein product + + + + ClinVar + DHCR24 + + + Ensembl + ENSG00000116133 + + + Genatlas + DHCR24 + + + HGNC + 2859 + + + OMIM + 606418 + + + Reactome + Q15392 + + + SwissProt + Q15392 + + + + + 1p32.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 35099 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35099 + Non-syndromic bicoronal craniosynostosis + + Morphological anomaly + + + Disorder + + + + 10914960[PMID] + + fibroblast growth factor receptor 3 + FGFR3 + + CD333 + CEK2 + JTK4 + + + gene with protein product + + + + Ensembl + ENSG00000068078 + + + Genatlas + FGFR3 + + + HGNC + 3690 + + + IUPHAR + 1810 + + + OMIM + 134934 + + + Reactome + P22607 + + + SwissProt + P22607 + + + ClinVar + FGFR3 + + + + + 4p16.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26340333[PMID] + + Zic family zinc finger 1 + ZIC1 + + Zinc finger protein of the cerebellum 1 + ZIC + ZNF201 + + + gene with protein product + + + + Reactome + Q15915 + + + ClinVar + ZIC1 + + + Ensembl + ENSG00000152977 + + + Genatlas + ZIC1 + + + HGNC + 12872 + + + OMIM + 600470 + + + 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Disease-causing germline mutation(s) in + + + Assessed + + + + + + 35122 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35122 + Congenital sucrase-isomaltase deficiency + + Disease + + + Disorder + + + + + + sucrase-isomaltase + SI + + Oligosaccharide alpha-1,6-glucosidase + alpha-glucosidase + Oligo-1,6-glucosidase + Alpha-methylglucosidase + + + gene with protein product + + + + ClinVar + SI + + + Ensembl + ENSG00000090402 + + + Genatlas + SI + + + HGNC + 10856 + + + OMIM + 609845 + + + Reactome + P14410 + + + SwissProt + P14410 + + + + + 3q26.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 36387 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387 + Genetic epilepsy with febrile seizure plus + + Disease + + + Disorder + + + + 30351409[PMID] + + hyperpolarization activated cyclic nucleotide gated potassium channel 1 + HCN1 + + BCNG-1 + HAC-2 + + + gene with protein product + + + + Ensembl + ENSG00000164588 + + + 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25522171[PMID] + + proline rich transmembrane protein 2 + PRRT2 + + interferon induced transmembrane protein domain containing 1 + dispanin subfamily B member 3 + DKFZp547J199 + DSPB3 + EKD1 + FICCA + FLJ25513 + IFITMD1 + Interferon induced transmembrane protein domain containing 1 + PKC + Paroxysmal kinesigenic dyskinesia + Episodic kinesigenic dyskinesia 1 + + + gene with protein product + + + + Ensembl + ENSG00000167371 + + + Genatlas + PRRT2 + + + HGNC + 30500 + + + OMIM + 614386 + + + SwissProt + Q7Z6L0 + + + ClinVar + PRRT2 + + + + + 16p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 12402266[PMID] + + adhesion G protein-coupled receptor V1 + ADGRV1 + + DKFZp761P0710 + FEB4 + KIAA0686 + VLGR1 + + + gene with protein product + + + + ClinVar + ADGRV1 + + + Ensembl + ENSG00000164199 + + + Genatlas + ADGRV1 + + + HGNC + 17416 + + + IUPHAR + 189 + + + OMIM + 602851 + + + SwissProt + Q8WXG9 + + + + + 5q14.3 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 36412 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36412 + Hypocomplementemic urticarial vasculitis + + Disease + + + Disorder + + + + 23666765[PMID] + + deoxyribonuclease 1L3 + DNASE1L3 + + DNaseY + LS-DNase + DNAS1L3 + DNase gamma + LSD + D3 + + + gene with protein product + + + + Ensembl + ENSG00000163687 + + + Genatlas + DNASE1L3 + + + HGNC + 2959 + + + OMIM + 602244 + + + SwissProt + Q13609 + + + ClinVar + DNASE1L3 + + + + + 3p14.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 36426 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36426 + Stevens-Johnson syndrome + + Clinical subtype + + + Subtype of disorder + + + + + + major histocompatibility complex, class I, B + HLA-B + + + + gene with protein product + + + + ClinVar + HLA-B + + + Ensembl + ENSG00000234745 + + + Genatlas + HLA-B + + + HGNC + 4932 + + + OMIM + 142830 + + + SwissProt + P01889 + + + Reactome + 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P2RY12 + + + + + 3q25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 36367 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36367 + Distal deletion 1q syndrome + + Malformation syndrome + + + Disorder + + + + 28283832[PMID]_24193349[PMID] + + zinc finger and BTB domain containing 18 + ZBTB18 + + C2H2-171 + RP58 + TAZ-1 + + + gene with protein product + + + + Ensembl + ENSG00000179456 + + + Genatlas + ZBTB18 + + + HGNC + 13030 + + + OMIM + 608433 + + + SwissProt + Q99592 + + + ClinVar + ZBTB18 + + + + + 1q44 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 36383 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36383 + COL4A1/2-related familial vascular leukoencephalopathy + + Disease + + + Disorder + + + + 23065703[PMID] + + collagen type IV alpha 1 chain + COL4A1 + + + + gene with protein product + + + + ClinVar + COL4A1 + + + Ensembl + ENSG00000187498 + + + Genatlas + COL4A1 + + + HGNC + 2202 + + + OMIM + 120130 + + + Reactome + P02462 + + + SwissProt + P02462 + + + + + 13q34 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24390199[PMID]_36324412[PMID] + + collagen type IV alpha 2 chain + COL4A2 + + Canstatin + Collagen type IV alpha 2 + DKFZp686I14213 + FLJ22259 + canstatin + + + gene with protein product + + + + Ensembl + ENSG00000134871 + + + Genatlas + COL4A2 + + + HGNC + 2203 + + + OMIM + 120090 + + + Reactome + P08572 + + + SwissProt + P08572 + + + ClinVar + COL4A2 + + + + + 13q34 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 36386 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36386 + Hereditary sensory and autonomic neuropathy type 1 + + Disease + + + Disorder + + + + 21194679[PMID] + + atlastin GTPase 1 + ATL1 + + AD-FSP + FSP1 + atlastin + + + gene with protein product + + + + Reactome + Q8WXF7 + + + Genatlas + ATL1 + + + HGNC + 11231 + + + OMIM + 606439 + + + SwissProt + Q8WXF7 + + + Ensembl + ENSG00000198513 + + + ClinVar + ATL1 + + + + + 14q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 11242114[PMID] + + serine palmitoyltransferase long chain base subunit 1 + SPTLC1 + + HSAN1 + LCB1 + SPTI + hLCB1 + + + gene with protein product + + + + IUPHAR + 2509 + + + ClinVar + SPTLC1 + + + Ensembl + ENSG00000090054 + + + Genatlas + SPTLC1 + + + HGNC + 11277 + + + OMIM + 605712 + + + Reactome + O15269 + + + SwissProt + O15269 + + + + + 9q22.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20920666[PMID] + + serine palmitoyltransferase long chain base subunit 2 + SPTLC2 + + KIAA0526 + LCB2 + LCB2A + hLCB2a + + + gene with protein product + + + + Ensembl + ENSG00000100596 + + + Genatlas + SPTLC2 + + + HGNC + 11278 + + + OMIM + 605713 + + + Reactome + O15270 + + + SwissProt + O15270 + + + ClinVar + SPTLC2 + + + IUPHAR + 2510 + + + + + 14q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24459106[PMID] + + atlastin GTPase 3 + ATL3 + + DKFZP564J0863 + + + gene with protein product + + + + Ensembl + ENSG00000184743 + + + Genatlas + ATL3 + + + HGNC + 24526 + + + OMIM + 609369 + + + ClinVar + ATL3 + + + SwissProt + Q6DD88 + + + + + 11q13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 35878 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35878 + Hyperinsulinism-hyperammonemia syndrome + + Disease + + + Disorder + + + + 9571255[PMID]_20936362[PMID]_25733449[PMID] + + glutamate dehydrogenase 1 + GLUD1 + + hGDH1 + GDH + GDH1 + + + gene with protein product + + + + ClinVar + GLUD1 + + + Ensembl + ENSG00000148672 + + + Genatlas + GLUD1 + + + HGNC + 4335 + + + OMIM + 138130 + + + Reactome + P00367 + + + SwissProt + P00367 + + + + + 10q23.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 35858 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35858 + Imerslund-Gräsbeck syndrome + + Disease + + + Disorder + + + + 21750092[PMID]_26040326[PMID] + + amnion associated transmembrane protein + AMN + + amnionless + + + gene with protein product + + + + Ensembl + ENSG00000166126 + + + Genatlas + AMN + + + HGNC + 14604 + + + OMIM + 605799 + + + Reactome + Q9BXJ7 + + + SwissProt + Q9BXJ7 + + + ClinVar + AMN + + + + + 14q32.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 10080186[PMID] + + cubilin + CUBN + + IFCR + gp280 + intrinsic factor-cobalamin receptor + + + gene with protein product + + + + ClinVar + CUBN + + + Ensembl + ENSG00000107611 + + + Genatlas + CUBN + + + HGNC + 2548 + + + OMIM + 602997 + + + Reactome + O60494 + + + SwissProt + O60494 + + + + + 10p13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 35909 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35909 + Combined deficiency of factor V and factor VIII + + Disease + + + Disorder + + + + 12717434[PMID]_16304051[PMID] + + multiple coagulation factor deficiency 2, ER cargo receptor complex subunit + MCFD2 + + F5F8D + LMAN1IP + SDNSF + + + gene with protein product + + + + Ensembl + ENSG00000180398 + + + Genatlas + MCFD2 + + + HGNC + 18451 + + + OMIM + 607788 + + + Reactome + Q8NI22 + + + SwissProt + Q8NI22 + + + ClinVar + MCFD2 + + + + + 2p21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 9546392[PMID]_16304051[PMID] + + lectin, mannose binding 1 + LMAN1 + + ERGIC-53 + ERGIC53 + FMFD1 + MCFD1 + MR60 + endoplasmic reticulum-golgi intermediate compartment protein 53 + gp58 + + + gene with protein product + + + + ClinVar + LMAN1 + + + HGNC + 6631 + + + OMIM + 601567 + + + Reactome + P49257 + + + SwissProt + P49257 + + + Ensembl + ENSG00000074695 + + + Genatlas + LMAN1 + + + + + 18q21.32 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 33572 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33572 + 5-oxoprolinase deficiency + + Disease + + + Disorder + + + + 21651516[PMID]_27477828[PMID] + + 5-oxoprolinase, ATP-hydrolysing + OPLAH + + 5-Opase + OPLA + + + gene with protein product + + + + Ensembl + ENSG00000178814 + + + Genatlas + OPLAH + + + HGNC + 8149 + + + OMIM + 614243 + + + Reactome + O14841 + + + SwissProt + O14841 + + + ClinVar + OPLAH + + + + + 8q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 33543 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33543 + Kleine-Levin syndrome + + Disease + + + Disorder + + + + 33737391[PMID] + + tetratricopeptide repeat and ankyrin repeat containing 1 + TRANK1 + + KIAA0342 + LBA1 + lupus brain antigen 1 + + + gene with protein product + + + + HGNC + 29011 + + + OMIM + 619316 + + + SwissProt + O15050 + + + Ensembl + ENSG00000168016 + + + + + 3p22.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 33445 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33445 + Neuroectodermal melanolysosomal disease + + Malformation syndrome + + + Disorder + + + + + + myosin VA + MYO5A + + Unconventional myosin-Va + GS1 + MYO5 + MYR12 + myosin V + myosin heavy chain 12 + myosin, heavy polypeptide kinase + myoxin + + + gene with protein product + + + + OMIM + 160777 + + + Reactome + Q9Y4I1 + + + SwissProt + Q9Y4I1 + + + ClinVar + MYO5A + + + Ensembl + ENSG00000197535 + + + Genatlas + MYO5A + + + HGNC + 7602 + + + + + 15q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 535458 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535458 + Familial GPIHBP1 deficiency + + Etiological subtype + + + Subtype of disorder + + + + 25732519[PMID]_29980054[PMID] + + glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 + GPIHBP1 + + GPI-HBP1 + LOC338328 + endothelial cell LPL transporter + + + gene with protein product + + + + Reactome + Q8IV16 + + + ClinVar + GPIHBP1 + + + HGNC + 24945 + + + OMIM + 612757 + + + SwissProt + Q8IV16 + + + Ensembl + ENSG00000277494 + + + Genatlas + GPIHBP1 + + + + + 8q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 33402 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33402 + Pediatric hepatocellular carcinoma + + Disease + + + Disorder + + + + 9927037[PMID] + + MET proto-oncogene, receptor tyrosine kinase + MET + + DFNB97 + HGFR + RCCP2 + hepatocyte growth factor receptor + + + gene with protein product + + + + Ensembl + ENSG00000105976 + + + Genatlas + MET + + + HGNC + 7029 + + + IUPHAR + 1815 + + + OMIM + 164860 + + + Reactome + P08581 + + + SwissProt + P08581 + + + ClinVar + MET + + + + + 7q31.2 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 9927029[PMID] + + catenin beta 1 + CTNNB1 + + armadillo + beta-catenin + + + gene with protein product + + + + ClinVar + CTNNB1 + + + Ensembl + ENSG00000168036 + + + Genatlas + CTNNB1 + + + HGNC + 2514 + + + OMIM + 116806 + + + Reactome + P35222 + + + SwissProt + P35222 + + + + + 3p22.1 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 34217 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34217 + Naxos disease + + Disease + + + Disorder + + + + 20301310[PMID] + + junction plakoglobin + JUP + + DP3 + DPIII + PDGB + PKGB + PG + desmosomal protein 3 + + + gene with protein product + + + + HGNC + 6207 + + + OMIM + 173325 + + + Reactome + P14923 + + + SwissProt + P14923 + + + Ensembl + ENSG00000173801 + + + Genatlas + JUP + + + ClinVar + JUP + + + + + 17q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 33574 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33574 + Glutamate-cysteine ligase deficiency + + Disease + + + Disorder + + + + 10515893[PMID]_18024385[PMID] + + glutamate-cysteine ligase catalytic subunit + GCLC + + GCS + + + gene with protein product + + + + ClinVar + GCLC + + + Ensembl + ENSG00000001084 + + + Genatlas 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protein + PU.1 + hematopoietic transcription factor PU.1 + + + gene with protein product + + + + Ensembl + ENSG00000066336 + + + OMIM + 165170 + + + Reactome + P17947 + + + SwissProt + P17947 + + + HGNC + 11241 + + + + + 11p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22351933[PMID] + + phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta + PIK3CD + + p110D + phosphatidylinositol 3-kinase, catalytic, delta polypeptide + phosphoinositide-3-kinase C + + + gene with protein product + + + + OMIM + 602839 + + + Reactome + O00329 + + + SwissProt + O00329 + + + Ensembl + ENSG00000171608 + + + Genatlas + PIK3CD + + + HGNC + 8977 + + + IUPHAR + 2155 + + + ClinVar + PIK3CD + + + + + 1p36.22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 8890099[PMID] + + immunoglobulin heavy constant mu + IGHM + + + + gene with protein product + + + + ClinVar + IGHM + + + Ensembl + ENSG00000211899 + + + Genatlas + IGHM + + + HGNC + 5541 + + + OMIM + 147020 + + + Reactome + P01871 + + + SwissProt + P01871 + + + + + 14q32.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 9419212[PMID] + + immunoglobulin lambda like polypeptide 1 + IGLL1 + + 14.1 + CD179B + IGL5 + IGVPB + lambda 5 + + + gene with protein product + + + + ClinVar + IGLL1 + + + Reactome + P15814 + + + Ensembl + ENSG00000128322 + + + Genatlas + IGLL1 + + + HGNC + 5870 + + + OMIM + 146770 + + + SwissProt + P15814 + + + + + 22q11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 14660746[PMID] + + leucine rich repeat containing 8 VRAC subunit A + LRRC8A + + FLJ10337 + KIAA1437 + SWELL1 + + + gene with protein product + + + + Reactome + Q8IWT6 + + + ClinVar + LRRC8A + + + Ensembl + ENSG00000136802 + + + Genatlas + LRRC8A + + + HGNC + 19027 + + + OMIM + 608360 + + + SwissProt + Q8IWT6 + + + + + 9q34.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24216514[PMID] + + transcription factor 3 + TCF3 + + E2A + E2A immunoglobulin enhancer-binding factor E12/E47 + E47 + ITF1 + MGC129647 + MGC129648 + VDIR + VDR interacting repressor + bHLHb21 + immunoglobulin transcription factor 1 + kappa-E2-binding factor + transcription factor E2-alpha + p75 + + + gene with protein product + + + + Ensembl + ENSG00000071564 + + + Genatlas + TCF3 + + + HGNC + 11633 + + + OMIM + 147141 + + + Reactome + P15923 + + + SwissProt + P15923 + + + ClinVar + TCF3 + + + + + 19p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 11920841[PMID] + + CD79a molecule + CD79A + + MB1 + MB-1 + IGAlpha + Ig-alpha + B-cell antigen receptor complex-associated protein alpha chain + + + gene with protein product + + + + ClinVar + CD79A + + + Ensembl + ENSG00000105369 + + + Genatlas + CD79A + + + HGNC + 1698 + + + OMIM + 112205 + + + Reactome + P11912 + + + SwissProt + P11912 + + + + + 19q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 17709424[PMID]_17675462[PMID] + + CD79b molecule + CD79B + + B-cell antigen receptor complex-associated protein beta chain + Ig-beta + Igbeta + B29 + + + gene with protein product + + + + IUPHAR + 2852 + + + Ensembl + ENSG00000007312 + + + Genatlas + CD79B + + + HGNC + 1699 + + + OMIM + 147245 + + + Reactome + P40259 + + + SwissProt + P40259 + + + ClinVar + CD79B + + + + + 17q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 10583958[PMID] + + B cell linker + BLNK + + B cell adaptor containing SH2 domain + B-cell activation + B-cell adapter containing a SH2 domain protein + BASH + BLNK-s + Ly57 + SLP-65 + SLP65 + Src homology [SH2] domain-containing leukocyte protein of 65 kD + bca + + + gene with protein product + + + + Ensembl + ENSG00000095585 + + + Genatlas + BLNK + + + HGNC + 14211 + + + OMIM + 604515 + + + Reactome + Q8WV28 + + + SwissProt + Q8WV28 + + + ClinVar + BLNK + + + + + 10q24.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22351933[PMID] + + phosphoinositide-3-kinase regulatory subunit 1 + PIK3R1 + + GRB1 + p85 + p85-ALPHA + phosphoinositide-3-kinase regulatory subunit alpha + PI3 kinase-associated p85 + growth factor receptor bound 1 + p85alpha + + + gene with protein product + + + + IUPHAR + 2503 + + + Ensembl + ENSG00000145675 + + + Genatlas + PIK3R1 + + + HGNC + 8979 + + + OMIM + 171833 + + + Reactome + P27986 + + + SwissProt + P27986 + + + ClinVar + PIK3R1 + + + + + 5q13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 33108 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33108 + Lethal multiple pterygium syndrome + + Malformation syndrome + + + Disorder + + + + 28336317[PMID] + + nebulin + NEB + + NEB177D + nemaline myopathy type 2 + + + gene with protein product + + + + OMIM + 161650 + + + Reactome + P20929 + + + SwissProt + P20929 + + + Ensembl + ENSG00000183091 + + + Genatlas + NEB + + + HGNC + 7720 + + + ClinVar + NEB + + + + + 2q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + receptor associated protein of the synapse + RAPSN + + CMS1D + CMS1E + RNF205 + rapsyn + + + gene with protein product + + + + ClinVar + RAPSN + + + HGNC + 9863 + + + OMIM + 601592 + + + SwissProt + Q13702 + + + Ensembl + ENSG00000165917 + + + Genatlas + RAPSN + + + + + 11p11.2 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 26932181[PMID] + + ryanodine receptor 1 + RYR1 + + PPP1R137 + RYR + protein phosphatase 1, regulatory subunit 137 + + + gene with protein product + + + + ClinVar + RYR1 + + + Ensembl + ENSG00000196218 + + + Genatlas + RYR1 + + + HGNC + 10483 + + + IUPHAR + 747 + + + OMIM + 180901 + + + Reactome + P21817 + + + SwissProt + P21817 + + + + + 19q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 18252226[PMID] + + cholinergic receptor nicotinic alpha 1 subunit + CHRNA1 + + acetylcholine receptor, nicotinic, alpha 1 (muscle) + + + gene with protein product + + + + Ensembl + ENSG00000138435 + + + Genatlas + CHRNA1 + + + HGNC + 1955 + + + IUPHAR + 462 + + + OMIM + 100690 + + + Reactome + P02708 + + + SwissProt + P02708 + + + ClinVar + CHRNA1 + + + + + 2q31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 18252226[PMID] + + cholinergic receptor nicotinic delta subunit + CHRND + + acetylcholine receptor, nicotinic, delta (muscle) + + + gene with protein product + + + + Ensembl + ENSG00000135902 + + + Genatlas + CHRND + + + HGNC + 1965 + + + IUPHAR + 476 + + + OMIM + 100720 + + + Reactome + Q07001 + + + SwissProt + Q07001 + + + ClinVar + CHRND + + + + + 2q37.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 16826531[PMID] + + cholinergic receptor nicotinic gamma subunit + CHRNG + + acetylcholine receptor, nicotinic, gamma (muscle) + + + gene with protein product + + + + Ensembl + ENSG00000196811 + + + Genatlas + CHRNG + + + HGNC + 1967 + + + IUPHAR + 475 + + + OMIM + 100730 + + + Reactome + P07510 + + + SwissProt + P07510 + + + ClinVar + CHRNG + + + + + 2q37.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 33067 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33067 + Metaphyseal chondrodysplasia, Jansen type + + Disease + + + Disorder + + + + 7701349[PMID]_8703170[PMID] + + parathyroid hormone 1 receptor + PTH1R + + + + gene with protein product + + + + ClinVar + PTH1R + + + Reactome + Q03431 + + + SwissProt + Q03431 + + + Ensembl + ENSG00000160801 + + + Genatlas + PTH1R + + + HGNC + 9608 + + + IUPHAR + 331 + + + OMIM + 168468 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 33069 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33069 + Dravet syndrome + + Disease + + + Disorder + + + + 20301494[PMID]_23093055[PMID]_21463275[PMID]_22787626[PMID]_11359211[PMID]_12754708[PMID]_16458823[PMID] + + sodium voltage-gated channel alpha subunit 1 + SCN1A + + GEFSP2 + HBSCI + NAC1 + Nav1.1 + SMEI + + + gene with protein product + + + + ClinVar + SCN1A + + + Ensembl + ENSG00000144285 + + + Genatlas + SCN1A + + + HGNC + 10585 + + + IUPHAR + 578 + + + OMIM + 182389 + + + Reactome + P35498 + + + SwissProt + P35498 + + + + + 2q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 19710327[PMID]_23148524[PMID]_23093055[PMID]_21463275[PMID]_22787626[PMID] + + sodium voltage-gated channel beta subunit 1 + SCN1B + + + + gene with protein product + + + + ClinVar + SCN1B + + + Ensembl + ENSG00000105711 + + + Genatlas + SCN1B + + + HGNC + 10586 + + + OMIM + 600235 + + + Reactome + Q07699 + + + SwissProt + Q07699 + + + + + 19q13.11 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 19763161[PMID]_23895530[PMID]_21463275[PMID]_18755274[PMID] + + sodium voltage-gated channel alpha subunit 9 + SCN9A + + ETHA + NE-NA + NENA + Nav1.7 + PN1 + + + gene with protein product + + + + ClinVar + SCN9A + + + Ensembl + ENSG00000169432 + + + Genatlas + SCN9A + + + HGNC + 10597 + + + IUPHAR + 584 + + + OMIM + 603415 + + + Reactome + Q15858 + + + SwissProt + Q15858 + + + + + 2q24.3 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 24623842[PMID] + + gamma-aminobutyric acid type A receptor subunit alpha1 + GABRA1 + + EJM5 + GABA(A) receptor, alpha 1 + + + gene with protein product + + + + ClinVar + GABRA1 + + + OMIM + 137160 + + + Reactome + P14867 + + + SwissProt + P14867 + + + Ensembl + ENSG00000022355 + + + Genatlas + GABRA1 + + + HGNC + 4075 + + + IUPHAR + 404 + + + + + 5q34 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 11748509[PMID]_23093055[PMID]_21463275[PMID]_22787626[PMID] + + gamma-aminobutyric acid type A receptor 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IUPHAR + 579 + + + OMIM + 182390 + + + Reactome + Q99250 + + + SwissProt + Q99250 + + + + + 2q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 33001 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33001 + Lymphedema-distichiasis syndrome + + Malformation syndrome + + + Disorder + + + + 12383817[PMID]_20301630[PMID] + + forkhead box C2 + FOXC2 + + MFH-1 + mesenchyme forkhead 1 + + + gene with protein product + + + + Ensembl + ENSG00000176692 + + + Genatlas + FOXC2 + + + HGNC + 3801 + + + OMIM + 602402 + + + SwissProt + Q99958 + + + ClinVar + FOXC2 + + + Reactome + Q99958 + + + + + 16q24.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 33355 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33355 + Reticular dysgenesis + + Disease + + + Disorder + + + + 19043416[PMID] + + adenylate kinase 2 + AK2 + + + + gene with protein product + + + + Ensembl + ENSG00000004455 + + + Genatlas + AK2 + + + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32960 + Tumor necrosis factor receptor 1 associated periodic syndrome + + Disease + + + Disorder + + + + 22059991[PMID] + + TNF receptor superfamily member 1A + TNFRSF1A + + CD120a + TNF-R + TNF-R-I + TNF-R55 + TNFAR + TNFR60 + + + gene with protein product + + + + IUPHAR + 1870 + + + Ensembl + ENSG00000067182 + + + Genatlas + TNFRSF1A + + + HGNC + 11916 + + + OMIM + 191190 + + + Reactome + P19438 + + + SwissProt + P19438 + + + ClinVar + TNFRSF1A + + + + + 12p13.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 52530 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52530 + Pseudo-von Willebrand disease + + Disease + + + Disorder + + + + 2052556[PMID] + + glycoprotein Ib platelet subunit alpha + GP1BA + + CD42b + GPIbalpha + platelet glycoprotein Ib alpha chain + + + gene with protein product + + + + ClinVar + GP1BA + + + Ensembl + ENSG00000185245 + + + Genatlas + GP1BA + + + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52427 + Retinitis punctata albescens + + Disease + + + Disorder + + + + 8485575[PMID] + + peripherin 2 + PRPH2 + + CACD2 + TSPAN22 + rd2 + retinal peripherin + tetraspanin-22 + choroidal dystrophy, central areolar 2 + + + gene with protein product + + + + ClinVar + PRPH2 + + + Ensembl + ENSG00000112619 + + + Genatlas + PRPH2 + + + HGNC + 9942 + + + OMIM + 179605 + + + SwissProt + P23942 + + + + + 6p21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + retinol dehydrogenase 5 + RDH5 + + HSD17B9 + SDR9C5 + short chain dehydrogenase/reductase family 9C, member 5 + + + gene with protein product + + + + ClinVar + RDH5 + + + Ensembl + ENSG00000135437 + + + Genatlas + RDH5 + + + HGNC + 9940 + + + OMIM + 601617 + + + Reactome + Q92781 + + + SwissProt + Q92781 + + + + + 12q13.2 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 8554077[PMID] + + rhodopsin + RHO + + CSNBAD1 + OPN2 + 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Q6P089 + + + + + 14q32.33 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 15703784[PMID] + + forkhead box P1 + FOXP1 + + 12CC4 + HSPC215 + PAX5/FOXP1 fusion protein + QRF1 + fork head-related protein like B + glutamine-rich factor 1 + hFKH1B + + + gene with protein product + + + + ClinVar + FOXP1 + + + Reactome + Q9H334 + + + Ensembl + ENSG00000114861 + + + Genatlas + FOXP1 + + + HGNC + 3823 + + + OMIM + 605515 + + + SwissProt + Q9H334 + + + + + 3p13 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 25922601[PMID]_10319863[PMID] + + BCL10 immune signaling adaptor + BCL10 + + CARD containing molecule enhancing NF-kB + CARD-containing apoptotic signaling protein + CARD-containing proapoptotic protein + CARD-like apoptotic protein + CARMEN + CIPER + CLAP + c-E10 + caspase-recruiting domain-containing protein + mE10 + + + gene with protein product + + + + Ensembl + ENSG00000142867 + + + Genatlas + BCL10 + + + HGNC + 989 + + + OMIM + 603517 + + + Reactome + O95999 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P25189 + + + + + 1q23.3 + 1 + + + + + Modifying germline mutation in + + + Assessed + + + + + + 53583 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53583 + Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity + + Disease + + + Disorder + + + + 21832227[PMID] + + solute carrier family 2 member 1 + SLC2A1 + + DYT18 + DYT9 + GLUT-1 + dystonia gene 18 + dystonia gene 9 + + + gene with protein product + + + + ClinVar + SLC2A1 + + + IUPHAR + 875 + + + Ensembl + ENSG00000117394 + + + Genatlas + SLC2A1 + + + HGNC + 11005 + + + OMIM + 138140 + + + Reactome + P11166 + + + SwissProt + P11166 + + + + + 1p34.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 53540 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53540 + Goldmann-Favre syndrome + + Disease + + + Disorder + + + + 10655056[PMID] + + nuclear receptor subfamily 2 group E member 3 + NR2E3 + + PNR + RP37 + rd7 + + + gene with protein product + + + + ClinVar + NR2E3 + + + Ensembl + ENSG00000278570 + + + Genatlas + NR2E3 + + + HGNC + 7974 + + + IUPHAR + 616 + + + OMIM + 604485 + + + Reactome + Q9Y5X4 + + + SwissProt + Q9Y5X4 + + + + + 15q23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 53351 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53351 + X-linked dystonia-parkinsonism + + Disease + + + Disorder + + + + + + TATA-box binding protein associated factor 1 + TAF1 + + DYT3/TAF1 + KAT4 + NSCL2 + TAFII250 + + + gene with protein product + + + + ClinVar + TAF1 + + + Genatlas + TAF1 + + + HGNC + 11535 + + + IUPHAR + 2231 + + + OMIM + 313650 + + + Reactome + P21675 + + + SwissProt + P21675 + + + Ensembl + ENSG00000147133 + + + + + Xq13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 54260 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54260 + Left ventricular noncompaction + + Disease + + + Disorder + + + + 26464484[PMID] + + pleckstrin homology 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Genatlas + MYH7 + + + HGNC + 7577 + + + + + 14q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + LIM domain binding 3 + LDB3 + + KIAA0613 + PDLIM6 + Z-band alternatively spliced PDZ motif protein + ZASP + cypher + oracle + + + gene with protein product + + + + Ensembl + ENSG00000122367 + + + Genatlas + LDB3 + + + HGNC + 15710 + + + OMIM + 605906 + + + SwissProt + O75112 + + + ClinVar + LDB3 + + + + + 10q23.2 + 1 + + + + + Major susceptibility factor in + + + Not yet assessed + + + + + + lamin A/C + LMNA + + HGPS + MADA + mandibuloacral dysplasia type A + progerin + + + gene with protein product + + + + ClinVar + LMNA + + + Ensembl + ENSG00000160789 + + + Genatlas + LMNA + + + HGNC + 6636 + + + OMIM + 150330 + + + Reactome + P02545 + + + SwissProt + P02545 + + + + + 1q22 + 1 + + + + + Major susceptibility factor in + + + Not yet assessed + + + + 23314057[PMID] + + MIB E3 ubiquitin protein ligase 1 + MIB1 + + DIP-1 + KIAA1323 + MIB + ZZANK2 + ZZZ6 + DAPK-interacting protein 1 + + + gene with protein product + + + + Ensembl + ENSG00000101752 + + + Genatlas + MIB1 + + + HGNC + 21086 + + + OMIM + 608677 + + + Reactome + Q86YT6 + + + SwissProt + Q86YT6 + + + ClinVar + MIB1 + + + + + 18q11.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 23768516[PMID] + + PR/SET domain 16 + PRDM16 + + KIAA1675 + MDS1/EVI1-like + MEL1 + MGC166915 + PFM13 + PR-domain zinc finger protein 16 + Transcription factor MEL1 + KMT8F + transcription factor MEL1 + + + gene with protein product + + + + Ensembl + ENSG00000142611 + + + Genatlas + PRDM16 + + + HGNC + 14000 + + + OMIM + 605557 + + + Reactome + Q9HAZ2 + + + SwissProt + Q9HAZ2 + + + ClinVar + PRDM16 + + + + + 1p36.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23800289[PMID] + + myosin heavy chain 7B + MYH7B + + lncMYH7b + KIAA1512 + MHC14 + MYH14 + dJ756N5.1 + + + gene with protein product + + + + Ensembl + ENSG00000078814 + + + Genatlas + MYH7B + + + HGNC + 15906 + + + OMIM + 609928 + + + Reactome + A7E2Y1 + + + SwissProt + A7E2Y1 + + + ClinVar + MYH7B + + + + + 20q11.22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 28013292[PMID] + + MIB E3 ubiquitin protein ligase 2 + MIB2 + + FLJ39787 + skeletrophin + ZZZ5 + + + gene with protein product + + + + HGNC + 30577 + + + Ensembl + ENSG00000197530 + + + SwissProt + Q96AX9 + + + OMIM + 611141 + + + Genatlas + MIB2 + + + Reactome + Q96AX9 + + + ClinVar + MIB2 + + + + + 1p36.33 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 538934 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538934 + X-linked lymphoproliferative disease due to XIAP deficiency + + Disease + + + Disorder + + + + 20301580[PMID] + + X-linked inhibitor of apoptosis + XIAP + + hILP + IAP-like protein 1 + ILP-1 + + + gene with protein product + + + + ClinVar + XIAP + + + IUPHAR + 2790 + + + Ensembl + ENSG00000101966 + + + Genatlas + XIAP + + + HGNC + 592 + + + OMIM + 300079 + + + Reactome + P98170 + + + SwissProt + P98170 + + + + + Xq25 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 538931 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538931 + X-linked lymphoproliferative disease due to SAP deficiency + + Disease + + + Disorder + + + + 20301580[PMID]_28196537[PMID] + + SH2 domain containing 1A + SH2D1A + + DSHP + Duncan's disease + EBVS + MTCP1 + SAP + XLP + XLPD + + + gene with protein product + + + + ClinVar + SH2D1A + + + Ensembl + ENSG00000183918 + + + Genatlas + SH2D1A + + + HGNC + 10820 + + + OMIM + 300490 + + + Reactome + O60880 + + + SwissProt + O60880 + + + + + Xq25 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 53696 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53696 + Arthrogryposis-anterior horn cell disease syndrome + + Malformation syndrome + + + Disorder + + + + 18204449[PMID] + + GLE1 RNA export mediator + GLE1 + + hGLE1 + + + gene with protein product + + + + Ensembl + ENSG00000119392 + + + Genatlas + GLE1 + + + HGNC + 4315 + + + OMIM + 603371 + + + SwissProt + Q53GS7 + + + Reactome + Q53GS7 + + + ClinVar + GLE1 + + + + + 9q34.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 538872 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538872 + Vegetative pyoderma gangrenosum + + Clinical subtype + + + Subtype of disorder + + + + 21406173[PMID] + + protein tyrosine phosphatase non-receptor type 6 + PTPN6 + + PTP-1C + SHP1 + SHP-1 + HCP + HCPH + + + gene with protein product + + + + HGNC + 9658 + + + Ensembl + ENSG00000111679 + + + OMIM + 176883 + + + SwissProt + P29350 + + + + + 12p13.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 53697 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53697 + Gnathodiaphyseal dysplasia + + Malformation syndrome + + 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gangrenosum + + Clinical subtype + + + Subtype of disorder + + + + 21406173[PMID] + + protein tyrosine phosphatase non-receptor type 6 + PTPN6 + + PTP-1C + SHP1 + SHP-1 + HCP + HCPH + + + gene with protein product + + + + HGNC + 9658 + + + Ensembl + ENSG00000111679 + + + OMIM + 176883 + + + SwissProt + P29350 + + + + + 12p13.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 538866 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538866 + Pustular pyoderma gangrenosum + + Clinical subtype + + + Subtype of disorder + + + + 21406173[PMID] + + protein tyrosine phosphatase non-receptor type 6 + PTPN6 + + PTP-1C + SHP1 + SHP-1 + HCP + HCPH + + + gene with protein product + + + + HGNC + 9658 + + + Ensembl + ENSG00000111679 + + + OMIM + 176883 + + + SwissProt + P29350 + + + + + 12p13.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 53693 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53693 + GRACILE syndrome + + Disease + + + Disorder + + + + 12215968[PMID] + + BCS1 ubiquinol-cytochrome c reductase complex chaperone + BCS1L + + BCS + BJS + Bjornstad syndrome + GRACILE syndrome + Hs.6719 + h-BCS + + + gene with protein product + + + + Ensembl + ENSG00000074582 + + + Genatlas + BCS1L + + + HGNC + 1020 + + + OMIM + 603647 + + + Reactome + Q9Y276 + + + SwissProt + Q9Y276 + + + ClinVar + BCS1L + + + + + 2q35 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 48818 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818 + Aceruloplasminemia + + Disease + + + Disorder + + + + 20301666[PMID] + + ceruloplasmin + CP + + caeruloplasmin + ferroxidase + AB073614 + + + gene with protein product + + + + ClinVar + CP + + + Ensembl + ENSG00000047457 + + + Genatlas + CP + + + HGNC + 2295 + + + OMIM + 117700 + + + Reactome + P00450 + + + SwissProt + P00450 + + + + + 3q24-q25.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 49382 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49382 + Achromatopsia + + Disease + + + Disorder + + + + 19615668[PMID] + + phosphodiesterase 6C + PDE6C + + ACHM5 + COD4 + PDEA2 + Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha + + + gene with protein product + + + + Ensembl + ENSG00000095464 + + + Genatlas + PDE6C + + + HGNC + 8787 + + + OMIM + 600827 + + + SwissProt + P51160 + + + ClinVar + PDE6C + + + IUPHAR + 1314 + + + + + 10q23.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + retinitis pigmentosa GTPase regulator + RPGR + + CORDX1 + + + gene with protein product + + + + Reactome + Q92834 + + + Ensembl + ENSG00000156313 + + + Genatlas + RPGR + + + HGNC + 10295 + + + OMIM + 312610 + + + SwissProt + Q92834 + + + ClinVar + RPGR + + + + + Xp11.4 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + cyclic nucleotide gated channel subunit alpha 3 + CNGA3 + + CCNC1 + CCNCa + CNG3 + + + gene with protein product + + + + ClinVar + CNGA3 + + + Ensembl + ENSG00000144191 + + + Genatlas + CNGA3 + + + HGNC + 2150 + + + IUPHAR + 396 + + + OMIM + 600053 + + + SwissProt + Q16281 + + + + + 2q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + cyclic nucleotide gated channel subunit beta 3 + CNGB3 + + + + gene with protein product + + + + ClinVar + CNGB3 + + + Ensembl + ENSG00000170289 + + + Genatlas + CNGB3 + + + HGNC + 2153 + + + IUPHAR + 399 + + + OMIM + 605080 + + + SwissProt + Q9NQW8 + + + + + 8q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + phosphodiesterase 6H + PDE6H + + retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma + + + gene with protein product + + + + Ensembl + ENSG00000139053 + + + Genatlas + PDE6H + + + HGNC + 8790 + + + OMIM + 601190 + + + SwissProt + Q13956 + + + IUPHAR + 1317 + + + ClinVar + PDE6H + + + + + 12p12.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 12077706[PMID] + + G protein subunit alpha transducin 2 + GNAT2 + + ACHM4 + + + gene with protein product + + + + ClinVar + GNAT2 + + + Ensembl + ENSG00000134183 + + + Genatlas + GNAT2 + + + HGNC + 4394 + + + OMIM + 139340 + + + Reactome + P19087 + + + SwissProt + P19087 + + + + + 1p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26029869[PMID]_26063662[PMID] + + activating transcription factor 6 + ATF6 + + ATF6A + activating transcription factor 6 alpha + ATP6alpha + + + gene with protein product + + + + Ensembl + ENSG00000118217 + + + Genatlas + ATF6 + + + HGNC + 791 + + + OMIM + 605537 + + + Reactome + P18850 + + + SwissProt + P18850 + + + ClinVar + ATF6 + + + + + 1q23.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 538958 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538958 + EBV-induced lymphoproliferative disease due to CD70 deficiency + + Disease + + + Disorder + + + + 28011863[PMID]_28011864[PMID]_29434583[PMID] + + CD70 molecule + CD70 + + CD70 antigen + CD27-L + CD27L + CD27 ligand + + + gene with protein product + + + + HGNC + 11937 + + + Reactome + P32970 + + + Ensembl + ENSG00000125726 + + + SwissProt + P32970 + + + OMIM + 602840 + + + ClinVar + CD70 + + + Genatlas + CD70 + + + + + 19p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 48431 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431 + Congenital cataracts-facial dysmorphism-neuropathy syndrome + + Malformation syndrome + + + Disorder + + + + 20301787[PMID] + + CTD phosphatase subunit 1 + CTDP1 + + FCP1 + + + gene with protein product + + + + ClinVar + CTDP1 + + + Ensembl + ENSG00000060069 + + + Genatlas + CTDP1 + + + HGNC + 2498 + + + OMIM + 604927 + + + Reactome + Q9Y5B0 + + + SwissProt + Q9Y5B0 + + + + + 18q23 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 538963 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538963 + Combined immunodeficiency due to ITK deficiency + + Disease + + + Disorder + + + + 19425169[PMID] + + IL2 inducible T cell kinase + ITK + + EMT + LYK + PSCTK2 + + + gene with protein product + + + + SwissProt + Q08881 + + + Ensembl + ENSG00000113263 + + + Genatlas + ITK + + + HGNC + 6171 + + + IUPHAR + 2046 + + + OMIM + 186973 + + + Reactome + Q08881 + + + ClinVar + ITK + + + + + 5q33.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 50814 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50814 + Craniolenticulosutural dysplasia + + Malformation syndrome + + + Disorder + + + + 16980979[PMID] + + SEC23 homolog A, COPII component + SEC23A + + + + gene with protein product + + + + ClinVar + SEC23A + + + Ensembl + ENSG00000100934 + + + Genatlas + SEC23A + + + HGNC + 10701 + + + OMIM + 610511 + + + Reactome + Q15436 + + + SwissProt + Q15436 + + + + + 14q21.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 49827 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49827 + Thiamine-responsive megaloblastic anemia syndrome + + Disease + + + Disorder + + + + + + solute carrier family 19 member 2 + SLC19A2 + + ThT1 + Thiamine transporter 1 + THTR1 + thiamine-responsive megaloblastic anaemia + + + gene with protein product + + + + Ensembl + ENSG00000117479 + + + Genatlas + SLC19A2 + + + HGNC + 10938 + + + OMIM + 603941 + + + Reactome + O60779 + + + SwissProt + O60779 + + + ClinVar + SLC19A2 + + + IUPHAR + 1015 + + + + + 1q24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 50251 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50251 + Pleural mesothelioma + + Disease + + + Disorder + + + + 27181379[PMID] + + BRCA1 associated deubiquitinase 1 + BAP1 + + KIAA0272 + UCHL2 + hucep-6 + ubiquitin carboxy-terminal hydrolase L2 + + + gene with protein product + + + + Reactome + Q92560 + + + Ensembl + ENSG00000163930 + + + Genatlas + BAP1 + + + HGNC + 950 + + + IUPHAR + 2332 + + + OMIM + 603089 + + + SwissProt + Q92560 + + + ClinVar + BAP1 + + + + + 3p21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 50945 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50945 + Blomstrand lethal chondrodysplasia + + Malformation syndrome + + + Disorder + + + + 9832466[PMID]_9745456[PMID]_9649554[PMID] + + parathyroid hormone 1 receptor + PTH1R + + + + gene with protein product + + + + ClinVar + PTH1R + + + Reactome + Q03431 + + + SwissProt + Q03431 + + + Ensembl + ENSG00000160801 + + + Genatlas + PTH1R + + + HGNC + 9608 + + + IUPHAR + 331 + + + OMIM + 168468 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 50944 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50944 + Schöpf-Schulz-Passarge syndrome + + Disease + + + Disorder + + + + 19559398[PMID] + + Wnt family member 10A + WNT10A + + + + gene with protein product + + + + ClinVar + WNT10A + + + HGNC + 13829 + + + OMIM + 606268 + + + Reactome + Q9GZT5 + + + SwissProt + Q9GZT5 + + + Ensembl + ENSG00000135925 + + + Genatlas + WNT10A + + + + + 2q35 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 51083 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51083 + Congenital short QT syndrome + + Disease + + + Disorder + + + + 29167417[PMID] + + solute carrier family 4 member 3 + SLC4A3 + + AE3 + SLC2C + Anion exchanger 3, neuronal + + + gene with protein product + + + + HGNC + 11029 + + + Ensembl + ENSG00000114923 + + + SwissProt + P48751 + + + Reactome + P48751 + + + IUPHAR + 906 + + + OMIM + 106195 + + + + + 2q35 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 15761194[PMID] + + potassium inwardly rectifying channel subfamily J member 2 + KCNJ2 + + IRK1 + Kir2.1 + LQT7 + + + gene with protein product + + + + Ensembl + ENSG00000123700 + + + Genatlas + KCNJ2 + + + HGNC + 6263 + + + IUPHAR + 430 + + + OMIM + 600681 + + + Reactome + P63252 + + + SwissProt + P63252 + + + ClinVar + KCNJ2 + + + + + 17q24.3 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 15828882[PMID] + + potassium voltage-gated channel subfamily H member 2 + KCNH2 + + HERG + Kv11.1 + erg1 + human ether-a-go-go-related gene + long QT syndrome type 2 + + + gene with protein product + + + + Ensembl + ENSG00000055118 + + + Genatlas + KCNH2 + + + HGNC + 6251 + + + IUPHAR + 572 + + + OMIM + 152427 + + + Reactome + Q12809 + + + SwissProt + Q12809 + + + ClinVar + KCNH2 + + + + + 7q36.1 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 15159330[PMID]_26346102[PMID] + + potassium voltage-gated channel subfamily Q member 1 + KCNQ1 + + JLNS1 + Jervell and Lange-Nielsen syndrome 1 + KCNA8 + KVLQT1 + Kv7.1 + LQT1 + + + gene with protein product + + + + Ensembl + ENSG00000053918 + + + Genatlas + KCNQ1 + + + HGNC + 6294 + + + IUPHAR + 560 + + + OMIM + 607542 + + + Reactome + P51787 + + + SwissProt + P51787 + + + ClinVar + KCNQ1 + + + + + 11p15.5-p15.4 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 21383000[PMID] + + calcium voltage-gated channel auxiliary subunit alpha2delta 1 + CACNA2D1 + + alpha2delta-1 + lncRNA-N3 + + + gene with protein product + + + + Ensembl + ENSG00000153956 + + + Genatlas + CACNA2D1 + + + HGNC + 1399 + + + OMIM + 114204 + + + Reactome + P54289 + + + SwissProt + P54289 + + + ClinVar + CACNA2D1 + + + + + 7q21.11 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 50943 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50943 + Keratolytic winter erythema + + Disease + + + Disorder + + + + 28457472[PMID] + + cathepsin B + CTSB + + + + gene with protein product + + + + ClinVar + CTSB + + + HGNC + 2527 + + + Ensembl + ENSG00000164733 + + + SwissProt + P07858 + + + OMIM + 116810 + + + Genatlas + CTSB + + + Reactome + P07858 + + + IUPHAR + 2343 + + + + + 8p23.1 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 50942 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50942 + Striate palmoplantar keratoderma + + Disease + + + Disorder + + + + 9887343[PMID] + + desmoplakin + DSP + + DP + DPI + DPII + KPPS2 + PPKS2 + + + gene with protein product + + + + ClinVar + DSP + + + Ensembl + ENSG00000096696 + + + Genatlas + DSP + + + HGNC + 3052 + + + OMIM + 125647 + + + Reactome + P15924 + + + SwissProt + P15924 + + + + + 6p24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 11982762[PMID] + + keratin 1 + KRT1 + + KRT1A + + + gene with protein product + + + + Ensembl + ENSG00000167768 + + + Genatlas + KRT1 + + + HGNC + 6412 + + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543470 + Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome + + Disease + + + Disorder + + + + 29040572[PMID] + + ferredoxin reductase + FDXR + + adrenodoxin-NADP(+) reductase + adrenodoxin reductase + ADR + Ferredoxin--NADP(+) reductase + AR + + + gene with protein product + + + + Ensembl + ENSG00000161513 + + + SwissProt + P22570 + + + Reactome + P22570 + + + HGNC + 3642 + + + OMIM + 103270 + + + + + 17q25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 542657 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542657 + Isolated hyperchlorhidrosis + + Disease + + + Disorder + + + + 21035102[PMID] + + carbonic anhydrase 12 + CA12 + + HsT18816 + + + gene with protein product + + + + HGNC + 1371 + + + Ensembl + ENSG00000074410 + + + SwissProt + O43570 + + + Reactome + O43570 + + + IUPHAR + 2747 + + + OMIM + 603263 + + + + + 15q22.2 + 1 + + + + + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544254 + SYNGAP1-related developmental and epileptic encephalopathy + + Disease + + + Disorder + + + + 30541864[PMID] + + synaptic Ras GTPase activating protein 1 + SYNGAP1 + + KIAA1938 + RASA5 + SYNGAP + + + gene with protein product + + + + Ensembl + ENSG00000197283 + + + Genatlas + SYNGAP1 + + + HGNC + 11497 + + + OMIM + 603384 + + + Reactome + Q96PV0 + + + SwissProt + Q96PV0 + + + ClinVar + SYNGAP1 + + + + + 6p21.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 46348 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46348 + Paroxysmal extreme pain disorder + + Disease + + + Disorder + + + + + + sodium voltage-gated channel alpha subunit 10 + SCN10A + + Nav1.8 + PN3 + SNS + hPN3 + peripheral nerve sodium channel 3 + sensory neuron sodium channel + + + gene with protein product + + + + Ensembl + ENSG00000185313 + + + Genatlas + SCN10A + + + HGNC + 10582 + + + IUPHAR + 585 + + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544472 + Atypical hemolytic uremic syndrome with complement gene abnormality + + Etiological subtype + + + Subtype of disorder + + + + 20301541[PMID] + + thrombomodulin + THBD + + CD141 + THRM + fetomodulin + BDCA-3 + + + gene with protein product + + + + ClinVar + THBD + + + Ensembl + ENSG00000178726 + + + Genatlas + THBD + + + HGNC + 11784 + + + OMIM + 188040 + + + Reactome + P07204 + + + SwissProt + P07204 + + + + + 20p11.21 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 20301541[PMID] + + complement C3 + C3 + + ARMD9 + C3a + C3a anaphylatoxin + C3b + CPAMD1 + complement component C3a + complement component C3b + prepro-C3 + + + gene with protein product + + + + ClinVar + C3 + + + Ensembl + ENSG00000125730 + + + Genatlas + C3 + + + HGNC + 1318 + + + OMIM + 120700 + + + Reactome + P01024 + + + SwissProt + P01024 + + + + + 19p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544602 + Congenital myopathy with reduced type 2 muscle fibers + + Disease + + + Disorder + + + + 30215711[PMID] + + myosin light chain 1 + MYL1 + + MLC3F + MLC1/3 + MLC1F + MLC-1 + MLC1 + Myosin light chain 1/3, skeletal muscle isoform + + + gene with protein product + + + + HGNC + 7582 + + + Ensembl + ENSG00000168530 + + + SwissProt + P05976 + + + Reactome + P05976 + + + OMIM + 160780 + + + + + 2q34 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 555402 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555402 + NAD(P)HX dehydratase deficiency + + Disease + + + Disorder + + + + 30576410[PMID] + + NAD(P)HX dehydratase + NAXD + + LP3298 + FLJ10769 + ATP-dependent NAD(P)H-hydrate dehydratase + + + gene with protein product + + + + HGNC + 25576 + + + Ensembl + ENSG00000213995 + + + SwissProt + Q8IW45 + + + Reactome + Q8IW45 + + + OMIM + 615910 + + + + + 13q34 + 1 + 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Disorder + + + + 30982608[PMID]_30982609[PMID] + + colony stimulating factor 1 receptor + CSF1R + + C-FMS + CD115 + CSFR + + + gene with protein product + + + + Reactome + P07333 + + + Ensembl + ENSG00000182578 + + + Genatlas + CSF1R + + + HGNC + 2433 + + + IUPHAR + 1806 + + + OMIM + 164770 + + + SwissProt + P07333 + + + ClinVar + CSF1R + + + + + 5q32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 556955 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556955 + Pancreatic agenesis-holoprosencephaly syndrome + + Disease + + + Disorder + + + + 31006513[PMID] + + CCR4-NOT transcription complex subunit 1 + CNOT1 + + CDC39 + NOT1H + KIAA1007 + AD-005 + + + gene with protein product + + + + HGNC + 7877 + + + Ensembl + ENSG00000125107 + + + SwissProt + A5YKK6 + + + Reactome + A5YKK6 + + + OMIM + 604917 + + + + + 16q21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 557064 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557064 + Neonatal epileptic encephalopathy due to glutaminase deficiency + + Disease + + + Disorder + + + + 30575854[PMID] + + glutaminase + GLS + + KIAA0838 + GLS1 + GAM + GAC + K-glutaminase + glutaminase C + KGA + + + gene with protein product + + + + HGNC + 4331 + + + Ensembl + ENSG00000115419 + + + SwissProt + O94925 + + + Reactome + O94925 + + + IUPHAR + 2891 + + + OMIM + 138280 + + + + + 2q32.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 557056 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557056 + Spastic ataxia-dysarthria due to glutaminase deficiency + + Disease + + + Disorder + + + + 30575854[PMID]_30970188[PMID]_30987386[PMID] + + glutaminase + GLS + + KIAA0838 + GLS1 + GAM + GAC + K-glutaminase + glutaminase C + KGA + + + gene with protein product + + + + HGNC + 4331 + + + Ensembl + ENSG00000115419 + + + SwissProt + O94925 + + + Reactome + O94925 + + + IUPHAR + 2891 + + + OMIM + 138280 + + + + + 2q32.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 557003 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557003 + Oculoskeletodental syndrome + + Disease + + + Disorder + + + + 31034465[PMID] + + phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha + PIK3C2A + + PI3K-C2alpha + Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha + + + gene with protein product + + + + HGNC + 8971 + + + Ensembl + ENSG00000011405 + + + IUPHAR + 2150 + + + SwissProt + O00443 + + + OMIM + 603601 + + + ClinVar + PIK3C2A + + + Genatlas + PIK3C2A + + + + + 11p15.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 519388 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519388 + Autosomal recessive anterior segment dysgenesis + + Malformation syndrome + + + Disorder + + + + 27839872[PMID] + + C3 and PZP like alpha-2-macroglobulin domain containing 8 + CPAMD8 + + KIAA1283 + VIP + K-CAP + + + gene with protein product + + + + HGNC + 23228 + + + Ensembl + ENSG00000160111 + + + OMIM + 608841 + + + SwissProt + Q8IZJ3 + + + + + 19p13.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 90050 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90050 + Retinopathy of prematurity + + Disease + + + Disorder + + + + 23441120[PMID] + + LDL receptor related protein 5 + LRP5 + + BMND1 + EVR4 + HBM + LR3 + OPS + OPTA1 + VBCH2 + + + gene with protein product + + + + ClinVar + LRP5 + + + Ensembl + ENSG00000162337 + + + Genatlas + LRP5 + + + HGNC + 6697 + + + OMIM + 603506 + + + Reactome + O75197 + + + SwissProt + O75197 + + + + + 11q13.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 23441120[PMID] + + frizzled class receptor 4 + FZD4 + + CD344 + + + gene with protein product + + + + ClinVar + FZD4 + + + Ensembl + ENSG00000174804 + + + Genatlas + FZD4 + + + HGNC + 4042 + + + IUPHAR + 232 + + + OMIM + 604579 + + + Reactome + Q9ULV1 + + + SwissProt + Q9ULV1 + + + + + 11q14.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 20301506[PMID] + + norrin cystine knot growth factor NDP + NDP + + norrin + + + gene with protein product + + + + Reactome + Q00604 + + + ClinVar + NDP + + + Ensembl + ENSG00000124479 + + + Genatlas + NDP + + + HGNC + 7678 + + + OMIM + 300658 + + + SwissProt + Q00604 + + + + + Xp11.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 90045 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90045 + Hereditary folate malabsorption + + Disease + + + Disorder + + + + + + solute carrier family 46 member 1 + SLC46A1 + + HCP1 + MGC9564 + PCFT + heme carrier protein 1 + proton-coupled folate transporter + hPCFT + HsPCFT + + + gene with protein product + + + + IUPHAR + 1213 + + + ClinVar + SLC46A1 + + + Ensembl + ENSG00000076351 + + + Genatlas + SLC46A1 + + + HGNC + 30521 + + + OMIM + 611672 + + + Reactome + Q96NT5 + + + SwissProt + Q96NT5 + + + + + 17q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 90039 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90039 + Hemoglobin D disease + + Disease + + + Disorder + + + + 11757720[PMID]_25332633[PMID] + + hemoglobin subunit beta + HBB + + CD113t-C + beta-globin + + + gene with protein product + + + + ClinVar + HBB + + + HGNC + 4827 + + + OMIM + 141900 + + + Reactome + P68871 + + + SwissProt + P68871 + + + Ensembl + ENSG00000244734 + + + Genatlas + HBB + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 90044 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90044 + Familial pseudohyperkalemia + + Disease + + + Disorder + + + + 23180570[PMID]_24947683[PMID] + + ATP binding cassette subfamily B member 6 (LAN blood group) + ABCB6 + + umat + ATP-binding cassette half-transporter + EST45597 + MTABC3 + + + gene with protein product + + + + Ensembl + ENSG00000115657 + + + Genatlas + ABCB6 + + + HGNC + 47 + + + OMIM + 605452 + + + Reactome + Q9NP58 + + + SwissProt + Q9NP58 + + + IUPHAR + 773 + + + ClinVar + ABCB6 + + + + + 2q35 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 90042 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90042 + Primary familial polycythemia + + Disease + + + Disorder + + + + 9359528[PMID]_9192789[PMID] + + erythropoietin receptor + EPOR + + EPO-R + + + gene with protein product + + + + Reactome + P19235 + + + Ensembl + ENSG00000187266 + + + Genatlas + EPOR + + + HGNC + 3416 + + + IUPHAR + 1718 + + + OMIM + 133171 + + + SwissProt + P19235 + + + ClinVar + EPOR + + + + + 19p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 90024 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90024 + Deafness with labyrinthine aplasia, microtia, and microdontia + + Malformation syndrome + + + Disorder + + + + 22993869[PMID] + + fibroblast growth factor 3 + FGF3 + + HBGF-3 + INT-2 proto-oncogene protein + V-INT2 murine mammary tumor virus integration site oncogene homolog + murine mammary tumor virus integration site 2, mouse + oncogene INT2 + + + gene with protein product + + + + ClinVar + FGF3 + + + Ensembl + ENSG00000186895 + + + Genatlas + FGF3 + + + HGNC + 3681 + + + OMIM + 164950 + + + Reactome + P11487 + + + SwissProt + P11487 + + + + + 11q13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 90023 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90023 + Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency + + Disease + + + Disorder + + + + + + late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 + LAMTOR2 + + ENDAP + MAPBPIP + MAPKSP1 adaptor protein + MAPKSP1AP + Ragulator2 + p14 + mitogen activated protein binding protein interacting protein + endosomal adaptor protein + + + gene with protein product + + + + ClinVar + LAMTOR2 + + + Ensembl + ENSG00000116586 + + + Genatlas + LAMTOR2 + + + HGNC + 29796 + + + OMIM + 610389 + + + Reactome + Q9Y2Q5 + + + SwissProt + Q9Y2Q5 + + + + + 1q22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 90020 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90020 + Parkinson-dementia complex of Guam + + Disease + + + Disorder + + + + + + Parkinsonism associated deglycase + PARK7 + + GATD2 + DJ-1 + DJ1 + + + gene with protein product + + + + Ensembl + ENSG00000116288 + + + Genatlas + PARK7 + + + HGNC + 16369 + + + OMIM + 602533 + + + SwissProt + Q99497 + + + ClinVar + PARK7 + + + Reactome + Q99497 + + + + + 1p36.23 + 1 + + + + + Major susceptibility factor in + + + Not yet assessed + + + + + + transient receptor potential cation channel subfamily M member 7 + TRPM7 + + CHAK1 + LTRPC7 + TRP-PLIK + + + gene with protein product + + + + ClinVar + TRPM7 + + + SwissProt + Q96QT4 + + + Ensembl + ENSG00000092439 + + + Genatlas + TRPM7 + + + HGNC + 17994 + + + IUPHAR + 499 + + + OMIM + 605692 + + + Reactome + Q96QT4 + + + + + 15q21.2 + 1 + + + + + Major susceptibility factor in + + + Not yet assessed + + + + + + 90031 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90031 + Non-spherocytic hemolytic anemia due to hexokinase deficiency + + Disease + + + Disorder + + + + 12393545[PMID] + + hexokinase 1 + HK1 + + HKI + + + gene with protein product + + + + ClinVar + HK1 + + + Ensembl + ENSG00000156515 + + + Genatlas + HK1 + + + HGNC + 4922 + + + OMIM + 142600 + + + Reactome + P19367 + + + SwissProt + P19367 + + + + + 10q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 90026 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90026 + Primary erythromelalgia + + Disease + + + Disorder + + + + 15958509[PMID] + + sodium voltage-gated channel alpha subunit 9 + SCN9A + + ETHA + NE-NA + NENA + Nav1.7 + PN1 + + + gene with protein product + + + + ClinVar + SCN9A + + + Ensembl + ENSG00000169432 + + + Genatlas + SCN9A + + + HGNC + 10597 + + + IUPHAR + 584 + + + OMIM + 603415 + + + Reactome + Q15858 + + + SwissProt + Q15858 + + + + + 2q24.3 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + sodium voltage-gated channel alpha subunit 10 + SCN10A + + Nav1.8 + PN3 + SNS + hPN3 + peripheral nerve sodium channel 3 + sensory neuron sodium channel + + + gene with protein product + + + + Ensembl + ENSG00000185313 + + + Genatlas + SCN10A + + + HGNC + 10582 + + + IUPHAR + 585 + + + OMIM + 604427 + + + Reactome + Q9Y5Y9 + + + SwissProt + Q9Y5Y9 + + + ClinVar + SCN10A + + + + + 3p22.2 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + sodium voltage-gated channel alpha subunit 11 + SCN11A + + NaN + Nav1.9 + SNS-2 + + + gene with protein product + + + + Ensembl + ENSG00000168356 + + + Genatlas + SCN11A + + + HGNC + 10583 + + + IUPHAR + 586 + + + OMIM + 604385 + + + Reactome + Q9UI33 + + + SwissProt + Q9UI33 + + + ClinVar + SCN11A + + + + + 3p22.2 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 90030 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90030 + Hemolytic anemia due to glutathione reductase deficiency + + Disease + + + Disorder + + + + 17185460[PMID] + + glutathione-disulfide reductase + GSR + + glutathione S-reductase + GRase + + + gene with protein product + + + + ClinVar + GSR + + + HGNC + 4623 + + + IUPHAR + 2613 + + + OMIM + 138300 + + + Reactome + P00390 + + + SwissProt + P00390 + + + Ensembl + ENSG00000104687 + + + Genatlas + GSR + + + + + 8p12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 89936 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89936 + X-linked hypophosphatemia + + Disease + + + Disorder + + + + 22319799[PMID] + + phosphate regulating endopeptidase X-linked + PHEX + + Phosphate-regulating neutral endopeptidase + PHEX peptidase + HPDR1 + HYP1 + PEX + XLH + + + gene with protein product + + + + Ensembl + ENSG00000102174 + + + Genatlas + PHEX + + + HGNC + 8918 + + + OMIM + 300550 + + + SwissProt + P78562 + + + ClinVar + PHEX + + + + + Xp22.11 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 89844 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89844 + Lissencephaly syndrome, Norman-Roberts type + + Clinical subtype + + + Subtype of disorder + + + + 21529751[PMID]_21529752[PMID] + + nudE neurodevelopment protein 1 + NDE1 + + FLJ20101 + NDE + NUDE + nudE + + + gene with protein product + + + + Ensembl + ENSG00000072864 + + + Genatlas + NDE1 + + + HGNC + 17619 + + + OMIM + 609449 + + + Reactome + Q9NXR1 + + + SwissProt + Q9NXR1 + + + ClinVar + NDE1 + + + + + 16p13.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 25521378[PMID]_25521379[PMID] + + katanin regulatory subunit B1 + KATNB1 + + + + gene with protein product + + + + Ensembl + ENSG00000140854 + + + Genatlas + KATNB1 + + + HGNC + 6217 + + + OMIM + 602703 + + + SwissProt + Q9BVA0 + + + ClinVar + KATNB1 + + + + + 16q21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 10973257[PMID] + + reelin + RELN + + PRO1598 + RL + + + gene with protein product + + + + ClinVar + RELN + + + Ensembl + ENSG00000189056 + + + Genatlas + RELN + + + HGNC + 9957 + + + OMIM + 600514 + + + SwissProt + P78509 + + + Reactome + P78509 + + + + + 7q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 89843 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89843 + Dystrophic epidermolysis bullosa pruriginosa + + Disease + + + Disorder + + + + + + collagen type VII alpha 1 chain + COL7A1 + + LC collagen + collagen VII, alpha-1 polypeptide + + + gene with protein product + + + + ClinVar + COL7A1 + + + Ensembl + ENSG00000114270 + + + Genatlas + COL7A1 + + + HGNC + 2214 + + + OMIM + 120120 + + + Reactome + Q02388 + + + SwissProt + Q02388 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 89842 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89842 + Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form + + Disease + + + Disorder + + + + + + collagen type VII alpha 1 chain + COL7A1 + + LC collagen + collagen VII, alpha-1 polypeptide + + + gene with protein product + + + + ClinVar + COL7A1 + + + Ensembl + ENSG00000114270 + + + Genatlas + COL7A1 + + + HGNC + 2214 + + + OMIM + 120120 + + + Reactome + Q02388 + + + SwissProt + Q02388 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 90001 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90001 + X-linked cone dysfunction syndrome with myopia + + Disease + + + Disorder + + + + 23322568[PMID] + + opsin 1, medium wave sensitive + OPN1MW + + COD5 + OPN1MW1 + cone dystrophy 5 (X-linked) + + + gene with protein product + + + + IUPHAR + 2962 + + + Ensembl + ENSG00000268221 + + + Genatlas + OPN1MW + + + HGNC + 4206 + + + OMIM + 300821 + + + Reactome + P04001 + + + SwissProt + P04001 + + + ClinVar + OPN1MW + + + + + Xq28 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 23322568[PMID] + + opsin 1, long wave sensitive + OPN1LW + + COD5 + cone dystrophy 5 (X-linked) + + + gene with protein product + + + + Reactome + P04000 + + + SwissProt + P04000 + + + Ensembl + ENSG00000102076 + + + ClinVar + OPN1LW + + + Genatlas + OPN1LW + + + HGNC + 9936 + + + OMIM + 300822 + + + IUPHAR + 2961 + + + + + Xq28 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 89938 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89938 + Bartter syndrome type 4 + + Clinical subtype + + + Subtype of disorder + + + + 23110775[PMID] + + barttin CLCNK type accessory subunit beta + BSND + + BART + + + gene with protein product + + + + Ensembl + ENSG00000162399 + + + Genatlas + BSND + + + HGNC + 16512 + + + OMIM + 606412 + + + Reactome + Q8WZ55 + + + SwissProt + Q8WZ55 + + + ClinVar + BSND + + + + + 1p32.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 18310267[PMID]_18776122[PMID]_12920401[PMID] + + chloride voltage-gated channel Kb + CLCNKB + + hClC-Kb + Chloride channel protein ClC-Kb + CLCKB + ClC-K2 + ClC-Kb + + + gene with protein product + + + + IUPHAR + 701 + + + Ensembl + ENSG00000184908 + + + Genatlas + CLCNKB + + + HGNC + 2027 + + + OMIM + 602023 + + + Reactome + P51801 + + + SwissProt + P51801 + + + ClinVar + CLCNKB + + + + + 1p36.13 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 18310267[PMID]_18776122[PMID]_12920401[PMID] + + chloride voltage-gated channel Ka + CLCNKA + + hClC-Ka + Chloride channel protein ClC-Ka + ClC-K1 + CLCK1 + + + gene with protein product + + + + Ensembl + ENSG00000186510 + + + Genatlas + CLCNKA + + + HGNC + 2026 + + + OMIM + 602024 + + + Reactome + P51800 + + + SwissProt + P51800 + + + ClinVar + CLCNKA + + + IUPHAR + 700 + + + + + 1p36.13 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 89937 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89937 + Autosomal dominant hypophosphatemic rickets + + Disease + + + Disorder + + + + 11062477[PMID]_19655082[PMID] + + fibroblast growth factor 23 + FGF23 + + + + gene with protein product + + + + SwissProt + Q9GZV9 + + + Ensembl + ENSG00000118972 + + + Genatlas + FGF23 + + + HGNC + 3680 + + + OMIM + 605380 + + + Reactome + Q9GZV9 + + + ClinVar + FGF23 + + + + + 12p13.32 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 90340 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90340 + Blau syndrome + + Disease + + + Disorder + + + + + + nucleotide binding oligomerization domain containing 2 + NOD2 + + BLAU + CD + CLR16.3 + NLR family, CARD domain containing 2 + NLRC2 + NOD-like receptor C2 + PSORAS1 + nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2 + + + gene with protein product + + + + Ensembl + ENSG00000167207 + + + Genatlas + NOD2 + + + HGNC + 5331 + + + OMIM + 605956 + + + Reactome + Q9HC29 + + + SwissProt + Q9HC29 + + + IUPHAR + 1763 + + + ClinVar + NOD2 + + + + + 16q12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 90342 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90342 + Xeroderma pigmentosum variant + + Disease + + + Disorder + + + + 24130121[PMID] + + DNA polymerase eta + POLH + + RAD30A + XP-V + + + gene with protein product + + + + Ensembl + ENSG00000170734 + + + Genatlas + POLH + + + HGNC + 9181 + + + OMIM + 603968 + + + Reactome + Q9Y253 + + + SwissProt + Q9Y253 + + + ClinVar + POLH + + + + + 6p21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 90348 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90348 + Autosomal dominant cutis laxa + + Disease + + + Disorder + + + + 26320891[PMID] + + aldehyde dehydrogenase 18 family member A1 + ALDH18A1 + + P5CS + delta-1-pyrroline-5-carboxylate synthase + + + gene with protein product + + + + HGNC + 9722 + + + OMIM + 138250 + + + Reactome + P54886 + + + SwissProt + P54886 + + + Ensembl + ENSG00000059573 + + + Genatlas + ALDH18A1 + + + ClinVar + ALDH18A1 + + + + + 10q24.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 12618961[PMID]_20301756[PMID] + + fibulin 5 + FBLN5 + + ARMD3 + DANCE + EVEC + UP50 + developmental arteries and neural crest EGF-like + embryonic vascular EGF-like repeat-containing protein + + + gene with protein product + + + + ClinVar + FBLN5 + + + Ensembl + ENSG00000140092 + + + Genatlas + FBLN5 + + + HGNC + 3602 + + + OMIM + 604580 + + + Reactome + Q9UBX5 + + + SwissProt + Q9UBX5 + + + + + 14q32.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 16085695[PMID]_18348261[PMID] + + elastin + ELN + + SVAS + WBS + WS + Williams-Beuren syndrome + supravalvular aortic stenosis + tropoelastin + + + gene with protein product + + + + ClinVar + ELN + + + Ensembl + ENSG00000049540 + + + Genatlas + ELN + + + HGNC + 3327 + + + OMIM + 130160 + + + Reactome + P15502 + + + SwissProt + P15502 + + + + + 7q11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 90349 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90349 + Autosomal recessive cutis laxa type 1 + + Disease + + + Disorder + + + + 16685658[PMID]_19664000[PMID] + + EGF-like fibulin extracellular matrix protein 2 + EFEMP2 + + FBLN4 + UPH1 + fibulin 4 + + + gene with protein product + + + + Ensembl + ENSG00000172638 + + + Genatlas + EFEMP2 + + + HGNC + 3219 + + + OMIM + 604633 + + + Reactome + O95967 + + + SwissProt + O95967 + + + ClinVar + EFEMP2 + + + + + 11q13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22829427[PMID] + + fibulin 5 + FBLN5 + + ARMD3 + DANCE + EVEC + UP50 + developmental arteries and neural crest EGF-like + embryonic vascular EGF-like repeat-containing protein + + + gene with protein product + + + + ClinVar + FBLN5 + + + Ensembl + ENSG00000140092 + + + Genatlas + FBLN5 + + + HGNC + 3602 + + + OMIM + 604580 + + + Reactome + Q9UBX5 + + + SwissProt + Q9UBX5 + + + + + 14q32.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 33991472[PMID] + + latent transforming growth factor beta binding protein 1 + LTBP1 + + Transforming growth factor beta-1-binding protein 1 + TGF-beta1-BP-1 + + + gene with protein product + + + + SwissProt + Q14766 + + + HGNC + 6714 + + + OMIM + 150390 + + + Ensembl + ENSG00000049323 + + + + + 2p22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 90354 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90354 + Brittle cornea syndrome + + Disease + + + Disorder + + + + 19661234[PMID]_20938016[PMID] + + zinc finger protein 469 + ZNF469 + + KIAA1858 + Zfp469 + + + gene with protein product + + + + OMIM + 612078 + + + SwissProt + Q96JG9 + + + ClinVar + ZNF469 + + + Ensembl + ENSG00000225614 + + + Genatlas + ZNF469 + + + HGNC + 23216 + + + + + 16q24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21664999[PMID] + + PR/SET domain 5 + PRDM5 + + PFM2 + + + gene with protein product + + + + ClinVar + PRDM5 + + + Reactome + Q9NQX1 + + + Ensembl + ENSG00000138738 + + + Genatlas + PRDM5 + + + HGNC + 9349 + + + OMIM + 614161 + + + SwissProt + Q9NQX1 + + + + + 4q27 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 90308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90308 + Capillary-lymphatic-venous malformation with segmental distribution + + Disease + + + Disorder + + + + 18564129[PMID] + + angiogenic factor with G-patch and FHA domains 1 + AGGF1 + + FLJ10283 + GPATC7 + GPATCH7 + HSU84971 + VG5Q + + + gene with protein product + + + + Reactome + Q8N302 + + + Ensembl + ENSG00000164252 + + + Genatlas + AGGF1 + + + HGNC + 24684 + + + OMIM + 608464 + + + SwissProt + Q8N302 + + + ClinVar + AGGF1 + + + + + 5q13.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 26268729[PMID] + + phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha + PIK3CA + + PI3K + + + gene with protein product + + + + Reactome + P42336 + + + SwissProt + P42336 + + + Ensembl + ENSG00000121879 + + + Genatlas + PIK3CA + + + HGNC + 8975 + + + IUPHAR + 2153 + + + OMIM + 171834 + + + ClinVar + PIK3CA + + + + + 3q26.32 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 90307 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90307 + Parkes Weber syndrome + + Disease + + + Disorder + + + + 18446851[PMID]_21348050[PMID] + + RAS p21 protein activator 1 + RASA1 + + Ras GTPase-activating protein 1 + CM-AVM + GAP + capillary malformation-arteriovenous malformation + p120 + p120 RAS GTPase activating protein + p120GAP + p120RASGAP + + + gene with protein product + + + + ClinVar + RASA1 + + + Ensembl + ENSG00000145715 + + + Genatlas + RASA1 + + + HGNC + 9871 + + + OMIM + 139150 + + + Reactome + P20936 + + + SwissProt + P20936 + + + + + 5q14.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 90322 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90322 + Cockayne syndrome type 2 + + Clinical subtype + + + Subtype of disorder + + + + 20301516[PMID] + + ERCC excision repair 6, chromatin remodeling factor + ERCC6 + + ARMD5 + CSB + Cockayne syndrome B protein + RAD26 + + + gene with protein product + + + + ClinVar + ERCC6 + + + Ensembl + ENSG00000225830 + + + Genatlas + ERCC6 + + + HGNC + 3438 + + + OMIM + 609413 + + + Reactome + Q03468 + + + SwissProt + Q03468 + + + + + 10q11.23 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 20301516[PMID] + + ERCC excision repair 8, CSA ubiquitin ligase complex subunit + ERCC8 + + CSA + + + gene with protein product + + + + Ensembl + ENSG00000049167 + + + Genatlas + ERCC8 + + + HGNC + 3439 + + + OMIM + 609412 + + + Reactome + Q13216 + + + SwissProt + Q13216 + + + ClinVar + ERCC8 + + + + + 5q12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23623389[PMID] + + ERCC excision repair 1, endonuclease non-catalytic subunit + ERCC1 + + RAD10 + + + gene with protein product + + + + SwissProt + P07992 + + + Ensembl + ENSG00000012061 + + + Genatlas + ERCC1 + + + HGNC + 3433 + + + OMIM + 126380 + + + Reactome + P07992 + + + ClinVar + ERCC1 + + + + + 19q13.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 90321 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90321 + Cockayne syndrome type 1 + + Clinical subtype + + + Subtype of disorder + + + + 23623389[PMID] + + ERCC excision repair 4, endonuclease catalytic subunit + ERCC4 + + FANCQ + RAD1 + xeroderma pigmentosum, complementation group F + + + gene with protein product + + + + ClinVar + ERCC4 + + + HGNC + 3436 + + + OMIM + 133520 + + + Reactome + Q92889 + + + SwissProt + Q92889 + + + Ensembl + ENSG00000175595 + + + Genatlas + ERCC4 + + + + + 16p13.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301516[PMID] + + ERCC excision repair 6, chromatin remodeling factor + ERCC6 + + ARMD5 + CSB + Cockayne syndrome B protein + RAD26 + + + gene with protein product + + + + ClinVar + ERCC6 + + + Ensembl + ENSG00000225830 + + + Genatlas + ERCC6 + + + HGNC + 3438 + + + OMIM + 609413 + + + Reactome + Q03468 + + + SwissProt + Q03468 + + + + + 10q11.23 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 20301516[PMID] + + ERCC excision repair 8, CSA ubiquitin ligase complex subunit + ERCC8 + + CSA + + + gene with protein product + + + + Ensembl + ENSG00000049167 + + + Genatlas + ERCC8 + + + HGNC + 3439 + + + OMIM + 609412 + + + Reactome + Q13216 + + + SwissProt + Q13216 + + + ClinVar + ERCC8 + + + + + 5q12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 90324 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90324 + Cockayne syndrome type 3 + + Clinical subtype + + + Subtype of disorder + + + + 20301516[PMID] + + ERCC excision repair 6, chromatin remodeling factor + ERCC6 + + ARMD5 + CSB + Cockayne syndrome B protein + RAD26 + + + gene with protein product + + + + ClinVar + ERCC6 + + + Ensembl + ENSG00000225830 + + + Genatlas + ERCC6 + + + HGNC + 3438 + + + OMIM + 609413 + + + Reactome + Q03468 + + + SwissProt + Q03468 + + + + + 10q11.23 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 20301516[PMID] + + ERCC excision repair 8, CSA ubiquitin ligase complex subunit + ERCC8 + + CSA + + + gene with protein product + + + + Ensembl + ENSG00000049167 + + + Genatlas + ERCC8 + + + HGNC + 3439 + + + OMIM + 609412 + + + Reactome + Q13216 + + + SwissProt + Q13216 + + + ClinVar + ERCC8 + + + + + 5q12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 90153 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90153 + Mandibuloacral dysplasia with type A lipodystrophy + + Clinical subtype + + + Subtype of disorder + + + + 12075506[PMID] + + lamin A/C + LMNA + + HGPS + MADA + mandibuloacral dysplasia type A + progerin + + + gene with protein product + + + + ClinVar + LMNA + + + Ensembl + ENSG00000160789 + + + Genatlas + LMNA + + + HGNC + 6636 + + + OMIM + 150330 + + + Reactome + P02545 + + + SwissProt + P02545 + + + + + 1q22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 90154 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90154 + Mandibuloacral dysplasia with type B lipodystrophy + + Clinical subtype + + + Subtype of disorder + + + + 12913070[PMID]_18435794[PMID] + + zinc metallopeptidase STE24 + ZMPSTE24 + + CAAX prenyl protease 1 homolog + FACE-1 + HGPS + Hutchinson-Gilford progeria syndrome + PRO1 + STE24 + Ste24p + + + gene with protein product + + + + ClinVar + ZMPSTE24 + + + Ensembl + ENSG00000084073 + + + Genatlas + ZMPSTE24 + + + HGNC + 12877 + + + OMIM + 606480 + + + SwissProt + O75844 + + + Reactome + O75844 + + + + + 1p34.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 90186 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90186 + Meige disease + + Disease + + + Disorder + + + + 34231312[PMID] + + EPH receptor B4 + EPHB4 + + Tyro11 + + + gene with protein product + + + + SwissProt + P54760 + + + ClinVar + EPHB4 + + + Ensembl + ENSG00000196411 + + + IUPHAR + 1833 + + + OMIM + 600011 + + + HGNC + 3395 + + + Genatlas + EPHB4 + + + + + 7q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 90118 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90118 + Severe early-onset axonal neuropathy due to MFN2 deficiency + + Disease + + + Disorder + + + + + + mitofusin 2 + MFN2 + + CMT2A2 + CPRP1 + KIAA0214 + MARF + + + gene with protein product + + + + Ensembl + ENSG00000116688 + + + Genatlas + MFN2 + + + HGNC + 16877 + + + OMIM + 608507 + + + Reactome + O95140 + + + SwissProt + O95140 + + + IUPHAR + 3131 + + + ClinVar + MFN2 + + + + + 1p36.22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 90117 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90117 + Hereditary motor and sensory neuropathy, Okinawa type + + Disease + + + Disorder + + + + 22883144[PMID] + + trafficking from ER to golgi regulator + TFG + + FLJ36137 + SPG57 + TF6 + + + gene with protein product + + + + ClinVar + TFG + + + Ensembl + ENSG00000114354 + + + Genatlas + TFG + + + HGNC + 11758 + + + OMIM + 602498 + + + Reactome + Q92734 + + + SwissProt + Q92734 + + + + + 3q12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 90120 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90120 + Hereditary motor and sensory neuropathy type 6 + + Disease + + + Disorder + + + + 26168012[PMID] + + solute carrier family 25 member 46 + SLC25A46 + + Mitochondrial outer membrane protein + + + gene with protein product + + + + Reactome + Q96AG3 + + + HGNC + 25198 + + + IUPHAR + 1096 + + + OMIM + 610826 + + + SwissProt + Q96AG3 + + + Ensembl + ENSG00000164209 + + + Genatlas + SLC25A46 + + + ClinVar + SLC25A46 + + + + + 5q22.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 16437557[PMID] + + mitofusin 2 + MFN2 + + CMT2A2 + CPRP1 + KIAA0214 + MARF + + + gene with protein product + + + + Ensembl + ENSG00000116688 + + + Genatlas + MFN2 + + + HGNC + 16877 + + + OMIM + 608507 + + + Reactome + O95140 + + + SwissProt + O95140 + + + IUPHAR + 3131 + + + ClinVar + MFN2 + + + + + 1p36.22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 88644 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88644 + Autosomal recessive ataxia, Beauce type + + Disease + + + Disorder + + + + 17159980[PMID] + + spectrin repeat containing nuclear envelope protein 1 + SYNE1 + + 8B + ARCA1 + CPG2 + Enaptin + KIAA0796 + MYNE1 + Nesp1 + Nesprin-1 + SCAR8 + SYNE-1B + dJ45H2.2 + myocyte nuclear envelope protein 1 + nuclear envelope spectrin repeat-1 + enaptin + + + gene with protein product + + + + ClinVar + SYNE1 + + + Ensembl + ENSG00000131018 + + + Genatlas + SYNE1 + + + HGNC + 17089 + + + OMIM + 608441 + + + Reactome + Q8NF91 + + + SwissProt + Q8NF91 + + + + + 6q25.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 88637 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88637 + Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome + + Clinical subtype + + + Subtype of disorder + + + + 22855961[PMID]_22036172[PMID] + + RNA polymerase III subunit B + POLR3B + + FLJ10388 + RPC2 + C128 + + + gene with protein product + + + + ClinVar + POLR3B + + + Ensembl + ENSG00000013503 + + + Genatlas + POLR3B + + + HGNC + 30348 + + + OMIM + 614366 + + + Reactome + Q9NW08 + + + SwissProt + Q9NW08 + + + + + 12q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26151409[PMID] + + RNA polymerase I and III subunit C + POLR1C + + RPA39 + RPA40 + RPA5 + RPAC1 + AC40 + RPC40 + + + gene with protein product + + + + ClinVar + POLR1C + + + Ensembl + ENSG00000171453 + + + Genatlas + POLR1C + + + HGNC + 20194 + + + OMIM + 610060 + + + Reactome + O15160 + + + SwissProt + O15160 + + + + + 6p21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21855841[PMID]_22855961[PMID] + + RNA polymerase III subunit A + POLR3A + + RPC1 + RPC155 + hRPC155 + C160 + + + gene with protein product + + + + ClinVar + POLR3A + + + Ensembl + ENSG00000148606 + + + Genatlas + POLR3A + + + HGNC + 30074 + + + OMIM + 614258 + + + Reactome + O14802 + + + SwissProt + O14802 + + + + + 10q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 88639 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88639 + Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency + + Disease + + + Disorder + + + + 17160907[PMID]_24299452[PMID] + + 3-hydroxyisobutyryl-CoA hydrolase + HIBCH + + + + gene with protein product + + + + Ensembl + ENSG00000198130 + + + Genatlas + HIBCH + + + HGNC + 4908 + + + OMIM + 610690 + + + Reactome + Q6NVY1 + + + SwissProt + Q6NVY1 + + + ClinVar + HIBCH + + + + + 2q32.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 88642 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88642 + Congenital insensitivity to pain-anosmia-neuropathic arthropathy + + Disease + + + Disorder + + + + 20529343[PMID] + + sodium voltage-gated channel alpha subunit 9 + SCN9A + + ETHA + NE-NA + NENA + Nav1.7 + PN1 + + + gene with protein product + + + + ClinVar + SCN9A + + + Ensembl + ENSG00000169432 + + + Genatlas + SCN9A + + + HGNC + 10597 + + + IUPHAR + 584 + + + OMIM + 603415 + + + Reactome + Q15858 + + + SwissProt + Q15858 + + + + + 2q24.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + sodium voltage-gated channel alpha subunit 10 + SCN10A + + Nav1.8 + PN3 + SNS + hPN3 + peripheral nerve sodium channel 3 + sensory neuron sodium channel + + + gene with protein product + + + + Ensembl + ENSG00000185313 + + + Genatlas + SCN10A + + + HGNC + 10582 + + + IUPHAR + 585 + + + OMIM + 604427 + + + Reactome + Q9Y5Y9 + + + SwissProt + Q9Y5Y9 + + + ClinVar + SCN10A + + + + + 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Disease-causing germline mutation(s) in + + + Assessed + + + + + + 88621 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88621 + Ichthyosis-prematurity syndrome + + Disease + + + Disorder + + + + 19631310[PMID] + + solute carrier family 27 member 4 + SLC27A4 + + ACSVL4 + FATP4 + Long-chain fatty acid transport protein 4 + FATP-4 + acyl-CoA synthetase very long chain family member 4 + fatty acid transport protein 4 + + + gene with protein product + + + + Ensembl + ENSG00000167114 + + + Genatlas + SLC27A4 + + + HGNC + 10998 + + + OMIM + 604194 + + + Reactome + Q6P1M0 + + + SwissProt + Q6P1M0 + + + IUPHAR + 1111 + + + ClinVar + SLC27A4 + + + + + 9q34.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 88628 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88628 + Posterior column ataxia-retinitis pigmentosa syndrome + + Disease + + + Disorder + + + + 21267618[PMID]_20301317[PMID] + + FLVCR choline and heme transporter 1 + FLVCR1 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88630 + Terminal osseous dysplasia-pigmentary defects syndrome + + Malformation syndrome + + + Disorder + + + + 20598277[PMID] + + filamin A + FLNA + + ABP-280 + actin binding protein 280 + alpha filamin + + + gene with protein product + + + + Ensembl + ENSG00000196924 + + + Genatlas + FLNA + + + HGNC + 3754 + + + OMIM + 300017 + + + Reactome + P21333 + + + SwissProt + P21333 + + + ClinVar + FLNA + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 88620 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88620 + Isolated congenital anosmia + + Disease + + + Disorder + + + + 27040985[PMID] + + teneurin transmembrane protein 1 + TENM1 + + TEN-M1 + TEN1 + + + gene with protein product + + + + HGNC + 8117 + + + Ensembl + ENSG00000009694 + + + OMIM + 300588 + + + Genatlas + TENM1 + + + ClinVar + TENM1 + + + SwissProt + Q9UKZ4 + + + + + Xq25 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 25156905[PMID] + + cyclic nucleotide gated channel subunit alpha 2 + CNGA2 + + CNG2 + FLJ46312 + OCNC1 + OCNCALPHA + OCNCa + OCNCalpha + + + gene with protein product + + + + ClinVar + CNGA2 + + + Ensembl + ENSG00000183862 + + + Genatlas + CNGA2 + + + HGNC + 2149 + + + IUPHAR + 395 + + + OMIM + 300338 + + + Reactome + Q16280 + + + SwissProt + Q16280 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 88619 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88619 + Familial acute necrotizing encephalopathy + + Disease + + + Disorder + + + + 19807769[PMID]_19811512[PMID] + + RAN binding protein 2 + RANBP2 + + nucleoporin 358 + ADANE + NUP358 + + + gene with protein product + + + + ClinVar + RANBP2 + + + Ensembl + ENSG00000153201 + + + Genatlas + RANBP2 + + + HGNC + 9848 + + + OMIM + 601181 + + + Reactome + P49792 + + + SwissProt + P49792 + + + + + 2q13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 88618 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88618 + S-adenosylhomocysteine hydrolase deficiency + + Disease + + + Disorder + + + + 16435181[PMID] + + adenosylhomocysteinase + AHCY + + SAHH + AdoHcyase + + + gene with protein product + + + + Ensembl + ENSG00000101444 + + + Genatlas + AHCY + + + HGNC + 343 + + + OMIM + 180960 + + + Reactome + P23526 + + + SwissProt + P23526 + + + IUPHAR + 1233 + + + ClinVar + AHCY + + + + + 20q11.22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 88616 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88616 + Autosomal recessive non-syndromic intellectual disability + + Etiological subtype + + + Subtype of disorder + + + + 25701870[PMID] + + decapping enzyme, scavenger + DCPS + + HINT-5 + HSL1 + HSPC015 + 5'-(N(7)-methyl 5'-triphosphoguanosine)-[mRNA] diphosphatase + HINT5 + DCS-1 + histidine triad nucleotide binding protein 5 + DCS1 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mutation(s) (loss of function) in + + + Assessed + + + + 29302074[PMID] + + ATP binding cassette subfamily A member 2 + ABCA2 + + + + gene with protein product + + + + HGNC + 32 + + + Ensembl + ENSG00000107331 + + + SwissProt + Q9BZC7 + + + OMIM + 600047 + + + IUPHAR + 757 + + + + + 9q34.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 35202461[PMID] + + choline kinase alpha + CHKA + + CKI + + + gene with protein product + + + + OMIM + 118491 + + + SwissProt + P35790 + + + Ensembl + ENSG00000110721 + + + HGNC + 1937 + + + + + 11q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 35675825[PMID] + + glutamate ionotropic receptor AMPA type subunit 1 + GRIA1 + + GluA1 + GLURA + AMPA receptor subunit GluA1 + Glutamate receptor 1 + + + gene with protein product + + + + HGNC + 4571 + + + Ensembl + ENSG00000155511 + + + SwissProt + P42261 + + + Reactome + P42261 + + + IUPHAR + 444 + + + OMIM + 138248 + + + + + 5q33.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 35359234[PMID] + + centrosomal protein 104 + CEP104 + + CFAP256 + GlyBP + JBTS25 + ROC22 + RP1-286D6.4 + glycine, glutamate, thienylcyclohexylpiperidine binding protein + + + gene with protein product + + + + Ensembl + ENSG00000116198 + + + Genatlas + CEP104 + + + HGNC + 24866 + + + OMIM + 616690 + + + SwissProt + O60308 + + + ClinVar + CEP104 + + + + + 1p36.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 28051072[PMID] + + glutamate ionotropic receptor NMDA type subunit 1 + GRIN1 + + GluN1 + NR1 + + + gene with protein product + + + + Ensembl + ENSG00000176884 + + + Genatlas + GRIN1 + + + HGNC + 4584 + + + IUPHAR + 455 + + + OMIM + 138249 + + + Reactome + Q05586 + + + SwissProt + Q05586 + + + ClinVar + GRIN1 + + + + + 9q34.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26173967[PMID] + + aminoacyl tRNA synthetase complex interacting multifunctional protein 1 + AIMP1 + + ARS-interacting multifunctional protein 1 + EMAP II + EMAP-2 + EMAPII + p43 + multisynthetase complex auxiliary component p43 + + + gene with protein product + + + + Ensembl + ENSG00000164022 + + + Genatlas + AIMP1 + + + HGNC + 10648 + + + OMIM + 603605 + + + Reactome + Q12904 + + + SwissProt + Q12904 + + + ClinVar + AIMP1 + + + + + 4q24 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 15557513[PMID] + + cereblon + CRBN + + MRT2 + + + gene with protein product + + + + Ensembl + ENSG00000113851 + + + Genatlas + CRBN + + + HGNC + 30185 + + + OMIM + 609262 + + + SwissProt + Q96SW2 + + + IUPHAR + 3086 + + + ClinVar + CRBN + + + + + 3p26.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21739581[PMID] + + tumor suppressor candidate 3 + TUSC3 + + MGC13453 + MRT7 + N33 + OST3A + oligosaccharyltransferase 3 homolog A (S. cerevisiae) + Magnesium uptake/transporter TUSC3 + MagT2 + SLC58A2 + + + gene with 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SwissProt + Q96Q05 + + + ClinVar + TRAPPC9 + + + + + 8q24.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 12459588[PMID] + + serine protease 12 + PRSS12 + + BSSP-3 + MRT1 + motopsin + neurotrypsin + brain-specific serine protease 3 + mental retardation, autosomal recessive 1 + + + gene with protein product + + + + Ensembl + ENSG00000164099 + + + Genatlas + PRSS12 + + + HGNC + 9477 + + + OMIM + 606709 + + + SwissProt + P56730 + + + ClinVar + PRSS12 + + + + + 4q26 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21868677[PMID] + + mediator complex subunit 23 + MED23 + + CRSP130 + DRIP130 + Sur2 + + + gene with protein product + + + + Ensembl + ENSG00000112282 + + + Genatlas + MED23 + + + HGNC + 2372 + + + OMIM + 605042 + + + Reactome + Q9ULK4 + + + SwissProt + Q9ULK4 + + + ClinVar + MED23 + + + + + 6q23.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22279524[PMID] + + CARD and 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TBK1-associated protein in endolysosomes + Aki-1 + Akt Kinase-Interacting Protein 1 + Lgd2 + + + gene with protein product + + + + Ensembl + ENSG00000132024 + + + Genatlas + CC2D1A + + + HGNC + 30237 + + + OMIM + 610055 + + + SwissProt + Q6P1N0 + + + ClinVar + CC2D1A + + + + + 19p13.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21763484[PMID] + + mannosidase alpha class 1B member 1 + MAN1B1 + + endoplasmic Reticulum Class I alpha-mannosidase + ERMan1 + Alpha 1,2-mannosidase + ER alpha 1,2-mannosidase + ERManI + Endoplasmic reticulum alpha-mannosidase 1 + Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1 + MANA-ER + MRT15 + Man9GlcNAc2-specific processing alpha-mannosidase + alpha 1,2-mannosidase + endoplasmic reticulum alpha-mannosidase 1 + endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1 + + + gene with protein product + + + + Ensembl + ENSG00000177239 + + + Genatlas + MAN1B1 + + + HGNC + 6823 + + + OMIM + 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pigmentosa reticularis + + Disease + + + Disorder + + + + 16960809[PMID] + + keratin 14 + KRT14 + + epidermolysis bullosa simplex, Dowling-Meara, Koebner + + + gene with protein product + + + + ClinVar + KRT14 + + + Genatlas + KRT14 + + + HGNC + 6416 + + + OMIM + 148066 + + + Reactome + P02533 + + + SwissProt + P02533 + + + Ensembl + ENSG00000186847 + + + + + 17q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 522077 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522077 + Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome + + Disease + + + Disorder + + + + 25705886[PMID]_30107533[PMID] + + synaptotagmin 1 + SYT1 + + P65 + + + gene with protein product + + + + Genatlas + SYT1 + + + OMIM + 185605 + + + SwissProt + P21579 + + + Reactome + P21579 + + + HGNC + 11509 + + + ClinVar + SYT1 + + + Ensembl + ENSG00000067715 + + + + + 12q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521432 + Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome + + Disease + + + Disorder + + + + 27878435[PMID] + + cytochrome P450 family 51 subfamily A member 1 + CYP51A1 + + CP51 + CYPL1 + P450L1 + LDM + P450-14DM + + + gene with protein product + + + + Ensembl + ENSG00000001630 + + + SwissProt + Q16850 + + + OMIM + 601637 + + + HGNC + 2649 + + + IUPHAR + 1374 + + + Reactome + Q16850 + + + + + 7q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 521426 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521426 + PLAA-associated neurodevelopmental disorder + + Malformation syndrome + + + Disorder + + + + 28007986[PMID]_28413018[PMID] + + phospholipase A2 activating protein + PLAA + + FLJ12699 + PLAP + PLA2P + DOA1 + DOA1 homolog (S. cerevisiae) + FLJ11281 + + + gene with protein product + + + + HGNC + 9043 + + + SwissProt + Q9Y263 + + + Ensembl + ENSG00000137055 + + + OMIM + 603873 + + + + + 9p21.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 521414 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521414 + Autosomal dominant Charcot-Marie-Tooth disease type 2DD + + Disease + + + Disorder + + + + 29499166[PMID] + + ATPase Na+/K+ transporting subunit alpha 1 + ATP1A1 + + sodium pump subunit alpha-1 + sodium-potassium ATPase catalytic subunit alpha-1 + sodium/potassium-transporting ATPase subunit alpha-1 + + + gene with protein product + + + + IUPHAR + 833 + + + OMIM + 182310 + + + Reactome + P05023 + + + SwissProt + P05023 + + + ClinVar + ATP1A1 + + + Ensembl + ENSG00000163399 + + + Genatlas + ATP1A1 + + + HGNC + 799 + + + + + 1p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 521258 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521258 + Xq25 microduplication syndrome + + Malformation syndrome + + + Disorder + + + + 25677961[PMID]_26443594[PMID] + + STAG2 cohesin complex component + STAG2 + + sister chromatid cohesion 3 homolog (S. cerevisiae) B + SA2 stromalin + SA2 + SCC3B + SA-2 + Cohesin subunit SA-2 + + + gene with protein product + + + + Genatlas + STAG2 + + + OMIM + 300826 + + + SwissProt + Q8N3U4 + + + ClinVar + STAG2 + + + Ensembl + ENSG00000101972 + + + Reactome + Q8N3U4 + + + HGNC + 11355 + + + + + Xq25 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 521305 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521305 + Proximal myopathy with focal depletion of mitochondria + + Disease + + + Disorder + + + + 26782016[PMID]_27169979[PMID] + + choline kinase beta + CHKB + + CHETK + + + gene with protein product + + + + ClinVar + CHKB + + + Ensembl + ENSG00000100288 + + + Genatlas + CHKB + + + HGNC + 1938 + + + OMIM + 612395 + + + Reactome + Q9Y259 + + + SwissProt + Q9Y259 + + + + + 22q13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 521390 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521390 + Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome + + Malformation syndrome + + + Disorder + + + + 27005418[PMID] + + kinase D interacting substrate 220 + KIDINS220 + + ankyrin repeat-rich membrane-spanning protein + ARMS + + + gene with protein product + + + + Genatlas + KIDINS220 + + + HGNC + 29508 + + + ClinVar + KIDINS220 + + + Reactome + Q9ULH0 + + + SwissProt + Q9ULH0 + + + OMIM + 615759 + + + Ensembl + ENSG00000134313 + + + + + 2p25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 521406 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521406 + Dystonia-parkinsonism-hypermanganesemia syndrome + + Disease + + + Disorder + + + + 29382362[PMID]_29685658[PMID]_27231142[PMID] + + solute carrier family 39 member 14 + SLC39A14 + + Metal cation symporter ZIP14 + KIAA0062 + NET34 + ZIP14 + ZIP-14 + ZRT/IRT-like protein 14 + zinc transporter 14 + + + gene with protein product + + + + HGNC + 20858 + + + Ensembl + ENSG00000104635 + + + SwissProt + Q15043 + + + Reactome + Q15043 + + + OMIM + 608736 + + + IUPHAR + 1193 + + + + + 8p21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 89838 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89838 + Autosomal recessive generalized epidermolysis bullosa simplex + + Disease + + + Disorder + + + + 7526933[PMID] + + keratin 14 + KRT14 + + epidermolysis bullosa simplex, Dowling-Meara, Koebner + + + gene with protein product + + + + ClinVar + KRT14 + + + Genatlas + KRT14 + + + HGNC + 6416 + + + OMIM + 148066 + + + Reactome + P02533 + + + SwissProt + P02533 + + + Ensembl + ENSG00000186847 + + + + + 17q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 521411 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521411 + Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect + + Disease + + + Disorder + + + + 29351582[PMID] + + synthesis of cytochrome C oxidase 2 + SCO2 + + SCO1L + + + gene with protein product + + + + ClinVar + SCO2 + + + Genatlas + SCO2 + + + HGNC + 10604 + + + Ensembl + ENSG00000284194 + + + OMIM + 604272 + + + Reactome + O43819 + + + SwissProt + O43819 + + + + + 22q13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 88949 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88949 + MUC1-related autosomal dominant tubulointerstitial kidney disease + + Clinical subtype + + + Subtype of disorder + + + + 23396133[PMID]_24509297[PMID] + + mucin 1, cell surface associated + MUC1 + + KL-6 + Ca15-3 + EMA + epithelial membrane antigen + ADMCKD + ADMCKD1 + CD227 + MCD + MCKD + PEM + + + gene with protein product + + + + ClinVar + MUC1 + + + Ensembl + ENSG00000185499 + + + Genatlas + MUC1 + + + HGNC + 7508 + + + OMIM + 158340 + + + Reactome + P15941 + + + SwissProt + P15941 + + + + + 1q22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 88950 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88950 + UMOD-related autosomal dominant tubulointerstitial kidney disease + + Clinical subtype + + + Subtype of disorder + + + + 20301530[PMID] + + uromodulin + UMOD + + Tamm-Horsfall glycoprotein + uromucoid + + + gene with protein product + + + + Reactome + P07911 + + + Ensembl + ENSG00000169344 + + + Genatlas + UMOD + + + HGNC + 12559 + + + OMIM + 191845 + + + SwissProt + P07911 + + + ClinVar + UMOD + + + + + 16p12.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 88940 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88940 + Pseudohypoaldosteronism type 2C + + Etiological subtype + + + Subtype of disorder + + + + 22073419[PMID] + + WNK lysine deficient protein kinase 1 + WNK1 + + HSAN2 + PPP1R167 + protein phosphatase 1, regulatory subunit 167 + + + gene with protein product + + + + ClinVar + WNK1 + + + Ensembl + ENSG00000060237 + + + Genatlas + WNK1 + + + HGNC + 14540 + + + IUPHAR + 2280 + + + OMIM + 605232 + + + Reactome + Q9H4A3 + + + SwissProt + Q9H4A3 + + + + + 12p13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 88939 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88939 + Pseudohypoaldosteronism type 2B + + Etiological subtype + + + Subtype of disorder + + + + 22073419[PMID] + + WNK lysine deficient protein kinase 4 + WNK4 + + + + gene with protein product + + + + ClinVar + WNK4 + + + Ensembl + ENSG00000126562 + + + Genatlas + WNK4 + + + HGNC + 14544 + + + IUPHAR + 2283 + + + OMIM + 601844 + + + Reactome + Q96J92 + + + SwissProt + Q96J92 + + + + + 17q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 88924 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88924 + Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis + + Disease + + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88918 + Autosomal dominant Alport syndrome + + Clinical subtype + + + Subtype of disorder + + + + 20301386[PMID] + + collagen type IV alpha 3 chain + COL4A3 + + tumstatin + + + gene with protein product + + + + ClinVar + COL4A3 + + + Ensembl + ENSG00000169031 + + + Genatlas + COL4A3 + + + HGNC + 2204 + + + OMIM + 120070 + + + Reactome + Q01955 + + + SwissProt + Q01955 + + + + + 2q36.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 9269635[PMID]_20301386[PMID]_15086897[PMID]_11572889[PMID]_19129241[PMID] + + collagen type IV alpha 4 chain + COL4A4 + + CA44 + collagen of basement membrane, alpha-4 chain + + + gene with protein product + + + + ClinVar + COL4A4 + + + Ensembl + ENSG00000081052 + + + Genatlas + COL4A4 + + + HGNC + 2206 + + + OMIM + 120131 + + + Reactome + P53420 + + + SwissProt + P53420 + + + + + 2q36.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 88919 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88919 + Autosomal recessive Alport syndrome + + Clinical subtype + + + Subtype of disorder + + + + 20301386[PMID] + + collagen type IV alpha 3 chain + COL4A3 + + tumstatin + + + gene with protein product + + + + ClinVar + COL4A3 + + + Ensembl + ENSG00000169031 + + + Genatlas + COL4A3 + + + HGNC + 2204 + + + OMIM + 120070 + + + Reactome + Q01955 + + + SwissProt + Q01955 + + + + + 2q36.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301386[PMID] + + collagen type IV alpha 4 chain + COL4A4 + + CA44 + collagen of basement membrane, alpha-4 chain + + + gene with protein product + + + + ClinVar + COL4A4 + + + Ensembl + ENSG00000081052 + + + Genatlas + COL4A4 + + + HGNC + 2206 + + + OMIM + 120131 + + + Reactome + P53420 + + + SwissProt + P53420 + + + + + 2q36.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 88917 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88917 + X-linked Alport syndrome + + Clinical subtype + + + Subtype of disorder + + + + 20301386[PMID] + + collagen type IV alpha 5 chain + COL4A5 + + + + gene with protein product + + + + ClinVar + COL4A5 + + + Ensembl + ENSG00000188153 + + + Genatlas + COL4A5 + + + HGNC + 2207 + + + OMIM + 303630 + + + Reactome + P29400 + + + SwissProt + P29400 + + + + + Xq22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93256 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93256 + Fragile X-associated tremor/ataxia syndrome + + Malformation syndrome + + + Disorder + + + + + + fragile X messenger ribonucleoprotein 1 + FMR1 + + FMRP + FRAXA + MGC87458 + + + gene with protein product + + + + Ensembl + ENSG00000102081 + + + Genatlas + FMR1 + + + HGNC + 3775 + + + OMIM + 309550 + + + SwissProt + Q06787 + + + ClinVar + FMR1 + + + + + Xq27.3 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 528105 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528105 + Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome + + Disease + + + Disorder + + + + 28674042[PMID] + + claudin 10 + CLDN10 + + CPETRL3 + OSP-L + + + gene with protein product + + + + SwissProt + P78369 + + + OMIM + 617579 + + + HGNC + 2033 + + + Ensembl + ENSG00000134873 + + + Genatlas + CLDN10 + + + Reactome + P78369 + + + ClinVar + CLDN10 + + + + + 13q32.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 528091 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528091 + Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome + + Disease + + + Disorder + + + + 26537577[PMID] + + leucyl-tRNA synthetase 2, mitochondrial + LARS2 + + KIAA0028 + LEURS + Leucine tRNA ligase 2, mitochondrial + MGC26121 + mtLeuRS + leucine tRNA ligase 2, mitochondrial + + + gene with protein product + + + + ClinVar + LARS2 + + + Ensembl + ENSG00000011376 + + + Genatlas + LARS2 + + + HGNC + 17095 + + + OMIM + 604544 + + + Reactome + Q15031 + + + SwissProt + Q15031 + + + + + 3p21.31 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 528084 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528084 + Non-specific syndromic intellectual disability + + Disease + + + Disorder + + + + 30639322[PMID] + + zinc finger MIZ-type containing 1 + ZMIZ1 + + RP11-519K18.1 + KIAA1224 + FLJ13541 + hZIMP10 + MIZ + Zimp10 + + + gene with protein product + + + + HGNC + 16493 + + + Ensembl + ENSG00000108175 + + + SwissProt + Q9ULJ6 + + + OMIM + 607159 + + + + + 10q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 30778726[PMID] + + pseudouridine synthase 7 + PUS7 + + FLJ20485 + + + gene with protein product + + + + HGNC + 26033 + + + Ensembl + ENSG00000091127 + + + OMIM + 616261 + + + SwissProt + Q96PZ0 + + + + + 7q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 30690204[PMID] + + trafficking protein particle complex subunit 4 + TRAPPC4 + + TRS23 + SBDN + PTD009 + + + gene with protein product + + + + HGNC + 19943 + + + Ensembl + ENSG00000196655 + + + SwissProt + Q9Y296 + + + Reactome + Q9Y296 + + + OMIM + 610971 + + + + + 11q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 35045343[PMID] + + mannosidase alpha class 2C member 1 + MAN2C1 + + cytosolic a-mannosidase + Alpha-mannosidase 2C1 + cytosolic alpha-mannosidase + + + gene with protein product + + + + HGNC + 6827 + + + Ensembl + ENSG00000140400 + + + SwissProt + Q9NTJ4 + + + Reactome + Q9NTJ4 + + + OMIM + 154580 + + + + + 15q24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 35051358[PMID] + + BRCA1 associated deubiquitinase 1 + BAP1 + + KIAA0272 + UCHL2 + hucep-6 + ubiquitin carboxy-terminal hydrolase L2 + + + gene with protein product + + + 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OMIM + 300142 + + + Reactome + O75914 + + + SwissProt + O75914 + + + + + Xq23 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 36414205[PMID] + + bromodomain and WD repeat domain containing 3 + BRWD3 + + Bromo Domain-Containing Protein Disrupted In Leukemia + FLJ38568 + MRX93 + BRODL + + + gene with protein product + + + + ClinVar + BRWD3 + + + IUPHAR + 2775 + + + Ensembl + ENSG00000165288 + + + Genatlas + BRWD3 + + + HGNC + 17342 + + + OMIM + 300553 + + + SwissProt + Q6RI45 + + + + + Xq21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 29288087[PMID]_30268909[PMID] + + T-box brain transcription factor 1 + TBR1 + + + + gene with protein product + + + + Genatlas + TBR1 + + + SwissProt + Q16650 + + + OMIM + 604616 + + + HGNC + 11590 + + + Ensembl + ENSG00000136535 + + + ClinVar + TBR1 + + + + + 2q24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 34930816[PMID] + + argonaute RISC component 1 + AGO1 + + hAGO1 + argonaute 1 + + + gene with protein product + + + + Genatlas + AGO1 + + + OMIM + 606228 + + + Ensembl + ENSG00000092847 + + + SwissProt + Q9UL18 + + + ClinVar + AGO1 + + + Reactome + Q9UL18 + + + HGNC + 3262 + + + + + 1p34.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 31079897[PMID] + + lysine methyltransferase 2E (inactive) + KMT2E + + SETD5B + HDCMC04P + + + gene with protein product + + + + HGNC + 18541 + + + Ensembl + ENSG00000005483 + + + SwissProt + Q8IZD2 + + + Reactome + Q8IZD2 + + + IUPHAR + 2692 + + + OMIM + 608444 + + + + + 7q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 30607023[PMID] + + small vasohibin binding protein + SVBP + + MGC45441 + + + gene with protein product + + + + HGNC + 29204 + + + Ensembl + ENSG00000177868 + + + SwissProt + Q8N300 + + + OMIM + 617853 + + + + + 1p34.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + 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Disease-causing germline mutation(s) in + + + Assessed + + + + 34157790[PMID] + + synaptotagmin binding cytoplasmic RNA interacting protein + SYNCRIP + + HNRNPQ + GRY-RBP + NSAP1 + HNRPQ1 + dJ3J17.2 + heterogeneous nuclear ribonucleoprotein Q + hnRNP-Q + + + gene with protein product + + + + HGNC + 16918 + + + SwissProt + O60506 + + + OMIM + 616686 + + + Ensembl + ENSG00000135316 + + + + + 6q14.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 34183358[PMID] + + G protein subunit beta 2 + GNB2 + + transducin beta chain 2 + G protein, beta-2 subunit + guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2 + signal-transducing guanine nucleotide-binding regulatory protein beta subunit + + + gene with protein product + + + + HGNC + 4398 + + + Ensembl + ENSG00000172354 + + + OMIM + 139390 + + + SwissProt + P62879 + + + + + 7q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 35543142[PMID] + + pre-mRNA processing factor 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30679813[PMID] + + F-box protein 11 + FBXO11 + + FBX11 + ubiquitin protein ligase E3 component n-recognin 6 + UBR6 + + + gene with protein product + + + + SwissProt + Q86XK2 + + + IUPHAR + 1260 + + + HGNC + 13590 + + + Ensembl + ENSG00000138081 + + + OMIM + 607871 + + + + + 2p16.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 36200388[PMID] + + MYC binding protein 2 + MYCBP2 + + PAM + PAM/Highwire/RPM-1 protein 1 + KIAA0916 + PHR1 + FLJ10106 + + + gene with protein product + + + + Ensembl + ENSG00000005810 + + + OMIM + 610392 + + + SwissProt + O75592 + + + HGNC + 23386 + + + + + 13q22.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 35395208[PMID] + + F-box and WD repeat domain containing 7 + FBXW7 + + archipelago homolog (Drosophila) + FLJ11071 + AGO + SEL10 + FBW7 + FBX30 + SEL-10 + FBXW6 + CDC4 + + + gene with protein product + + + + HGNC + 16712 + + + Ensembl + ENSG00000109670 + + + OMIM + 606278 + + + 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Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93262 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93262 + Crouzon syndrome-acanthosis nigricans syndrome + + Malformation syndrome + + + Disorder + + + + 20301628[PMID] + + fibroblast growth factor receptor 3 + FGFR3 + + CD333 + CEK2 + JTK4 + + + gene with protein product + + + + Ensembl + ENSG00000068078 + + + Genatlas + FGFR3 + + + HGNC + 3690 + + + IUPHAR + 1810 + + + OMIM + 134934 + + + Reactome + P22607 + + + SwissProt + P22607 + + + ClinVar + FGFR3 + + + + + 4p16.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93260 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93260 + Pfeiffer syndrome type 3 + + Clinical subtype + + + Subtype of disorder + + + + 20301628[PMID] + + fibroblast growth factor receptor 2 + FGFR2 + + CD332 + CEK3 + Crouzon syndrome + ECT1 + K-SAM + Pfeiffer syndrome + TK14 + TK25 + + + gene with protein product + + + + Ensembl + ENSG00000066468 + + + Genatlas + FGFR2 + + + HGNC + 3689 + + + IUPHAR + 1809 + + + OMIM + 176943 + + + Reactome + P21802 + + + SwissProt + P21802 + + + ClinVar + FGFR2 + + + + + 10q26.13 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 93259 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93259 + Pfeiffer syndrome type 2 + + Clinical subtype + + + Subtype of disorder + + + + 20301628[PMID] + + fibroblast growth factor receptor 2 + FGFR2 + + CD332 + CEK3 + Crouzon syndrome + ECT1 + K-SAM + Pfeiffer syndrome + TK14 + TK25 + + + gene with protein product + + + + Ensembl + ENSG00000066468 + + + Genatlas + FGFR2 + + + HGNC + 3689 + + + IUPHAR + 1809 + + + OMIM + 176943 + + + Reactome + P21802 + + + SwissProt + P21802 + + + ClinVar + FGFR2 + + + + + 10q26.13 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 93258 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93258 + Pfeiffer syndrome type 1 + + Clinical subtype + + + Subtype of disorder + + + + 20301628[PMID] + + fibroblast growth factor receptor 1 + FGFR1 + + BFGFR + CD331 + CEK + FLG + H2 + H3 + H4 + H5 + N-SAM + Pfeiffer syndrome + + + gene with protein product + + + + Ensembl + ENSG00000077782 + + + Genatlas + FGFR1 + + + HGNC + 3688 + + + IUPHAR + 1808 + + + OMIM + 136350 + + + Reactome + P11362 + + + SwissProt + P11362 + + + ClinVar + FGFR1 + + + + + 8p11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301628[PMID] + + fibroblast growth factor receptor 2 + FGFR2 + + CD332 + CEK3 + Crouzon syndrome + ECT1 + K-SAM + Pfeiffer syndrome + TK14 + TK25 + + + gene with protein product + + + + Ensembl + ENSG00000066468 + + + Genatlas + FGFR2 + + + HGNC + 3689 + + + IUPHAR + 1809 + + + OMIM + 176943 + + + Reactome + P21802 + + + SwissProt + P21802 + + + ClinVar + FGFR2 + + + + + 10q26.13 + 1 + + + + 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with protein product + + + + ClinVar + WDR34 + + + Ensembl + ENSG00000119333 + + + Genatlas + WDR34 + + + HGNC + 28296 + + + OMIM + 613363 + + + Reactome + Q96EX3 + + + SwissProt + Q96EX3 + + + + + 9q34.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93269 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93269 + Short rib-polydactyly syndrome, Majewski type + + Malformation syndrome + + + Disorder + + + + 29068549[PMID] + + TRAF3 interacting protein 1 + TRAF3IP1 + + FAP116 + DKFZP434F124 + IFT54 + MIP-T3 + MIPT3 + microtubule interacting protein that associates with TRAF3 + CFAP116 + + + gene with protein product + + + + Ensembl + ENSG00000204104 + + + Genatlas + TRAF3IP1 + + + HGNC + 17861 + + + OMIM + 607380 + + + Reactome + Q8TDR0 + + + SwissProt + Q8TDR0 + + + ClinVar + TRAF3IP1 + + + + + 2q37.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22791528[PMID]_21211617[PMID]_22499340[PMID] + + dynein cytoplasmic 2 heavy chain 1 + DYNC2H1 + + DHC1b + DHC2 + DYH1B + hdhc11 + + + gene with protein product + + + + Genatlas + DYNC2H1 + + + HGNC + 2962 + + + OMIM + 603297 + + + Reactome + Q8NCM8 + + + SwissProt + Q8NCM8 + + + ClinVar + DYNC2H1 + + + Ensembl + ENSG00000187240 + + + + + 11q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22791528[PMID]_22499340[PMID]_21211617[PMID] + + NIMA related kinase 1 + NEK1 + + KIAA1901 + NY-REN-55 + + + gene with protein product + + + + Reactome + Q96PY6 + + + Ensembl + ENSG00000137601 + + + Genatlas + NEK1 + + + HGNC + 7744 + + + IUPHAR + 2114 + + + OMIM + 604588 + + + SwissProt + Q96PY6 + + + ClinVar + NEK1 + + + + + 4q33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93270 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93270 + Short rib-polydactyly syndrome, Saldino-Noonan type + + Malformation syndrome + + + Disorder + + + + 27925158[PMID] + + dynein cytoplasmic 2 heavy chain 1 + DYNC2H1 + + DHC1b + DHC2 + DYH1B + hdhc11 + + + gene with protein product + + + + Genatlas + DYNC2H1 + + + HGNC + 2962 + + + OMIM + 603297 + + + Reactome + Q8NCM8 + + + SwissProt + Q8NCM8 + + + ClinVar + DYNC2H1 + + + Ensembl + ENSG00000187240 + + + + + 11q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93268 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93268 + Short rib-polydactyly syndrome, Beemer-Langer type + + Malformation syndrome + + + Disorder + + + + 30767363[PMID] + + intraflagellar transport 80 + IFT80 + + KIAA1374 + CFAP167 + FAP167 + + + gene with protein product + + + + Ensembl + ENSG00000068885 + + + Genatlas + IFT80 + + + HGNC + 29262 + + + OMIM + 611177 + + + Reactome + Q9P2H3 + + + SwissProt + Q9P2H3 + + + ClinVar + IFT80 + + + + + 3q25.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 28370949[PMID] + + intraflagellar transport 122 + IFT122 + + FAP80 + CFAP80 + SPG + WDR10p + WDR140 + + + gene with protein product + + + + ClinVar + IFT122 + + + Ensembl + ENSG00000163913 + + + Genatlas + IFT122 + + + HGNC + 13556 + + + OMIM + 606045 + + + Reactome + Q9HBG6 + + + SwissProt + Q9HBG6 + + + + + 3q21.3-q22.1 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 93282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282 + Spondyloepimetaphyseal dysplasia, PAPSS2 type + + Disease + + + Disorder + + + + 9771708[PMID] + + 3'-phosphoadenosine 5'-phosphosulfate synthase 2 + PAPSS2 + + bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 + sulfate adenylyltransferase + ATPSK2 + adenylyl-sulfate kinase + adenosine 5'-phosphosulfate kinase + PAPS synthase 2 + + + gene with protein product + + + + Ensembl + ENSG00000198682 + + + Genatlas + PAPSS2 + + + HGNC + 8604 + + + OMIM + 603005 + + + Reactome + O95340 + + + SwissProt + O95340 + + + ClinVar + PAPSS2 + + + + + 10q23.2-q23.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93283 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93283 + Spondyloepiphyseal dysplasia, Kimberley type + + Disease + + + Disorder + + + + 16080123[PMID] + + aggrecan + ACAN + + CSPGCP + aggrecan proteoglycan + + + gene with protein product + + + + ClinVar + ACAN + + + Ensembl + ENSG00000157766 + + + Genatlas + ACAN + + + HGNC + 319 + + + OMIM + 155760 + + + Reactome + P16112 + + + SwissProt + P16112 + + + + + 15q26.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93279 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93279 + Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis + + Disease + + + Disorder + + + + 1975693[PMID] + + collagen type II alpha 1 chain + COL2A1 + + STL1 + + + gene with protein product + + + + ClinVar + COL2A1 + + + Ensembl + ENSG00000139219 + + + Genatlas + COL2A1 + + + HGNC + 2200 + + + OMIM + 120140 + + + Reactome + P02458 + + + SwissProt + P02458 + + + + + 12q13.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93276 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93276 + Polyostotic fibrous dysplasia + + Clinical subtype + + + Subtype of disorder + + + + 10535539[PMID]_10646121[PMID] + + GNAS complex locus + GNAS + + G protein subunit alpha S + GNASXL + GPSA + NESP + NESP55 + SCG6 + SgVI + secretogranin VI + + + gene with protein product + + + + ClinVar + GNAS + + + SwissProt + P63092 + + + SwissProt + P84996 + + + SwissProt + Q5JWF2 + + + Ensembl + ENSG00000087460 + + + Genatlas + GNAS + + + HGNC + 4392 + + + OMIM + 139320 + + + Reactome + P63092 + + + SwissProt + O95467 + + + + + 20q13.32 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 93277 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93277 + Monostotic fibrous dysplasia + + Clinical subtype + + + Subtype of disorder + + + + 10535539[PMID]_10646121[PMID] + + GNAS complex locus + GNAS + + G protein subunit alpha S + GNASXL + GPSA + NESP + NESP55 + SCG6 + SgVI + secretogranin VI + + + gene with protein product + + + + ClinVar + GNAS + + + SwissProt + P63092 + + + SwissProt + P84996 + + + SwissProt + Q5JWF2 + + + Ensembl + ENSG00000087460 + + + Genatlas + GNAS + + + HGNC + 4392 + + + OMIM + 139320 + + + Reactome + P63092 + + + SwissProt + O95467 + + + + + 20q13.32 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 93274 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93274 + Thanatophoric dysplasia type 2 + + Clinical subtype + + + Subtype of disorder + + + + 20301540[PMID] + + fibroblast growth factor receptor 3 + FGFR3 + + CD333 + CEK2 + JTK4 + + + gene with protein product + + + + Ensembl + ENSG00000068078 + + + Genatlas + FGFR3 + + + HGNC + 3690 + + + IUPHAR + 1810 + + + OMIM + 134934 + + + Reactome + P22607 + + + SwissProt + P22607 + + + ClinVar + FGFR3 + + + + + 4p16.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 527497 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527497 + NKX6-2-related autosomal recessive hypomyelinating leukodystrophy + + Disease + + + Disorder + + + + 28575651[PMID] + + NK6 homeobox 2 + NKX6-2 + + GTX + NKX6.1 + NKX6B + + + gene with protein product + + + + ClinVar + NKX6-2 + + + HGNC + 19321 + + + Ensembl + ENSG00000148826 + + + SwissProt + Q9C056 + + + OMIM + 605955 + + + Genatlas + NKX6-2 + + + + + 10q26.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93110 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93110 + Posterior urethral valve + + Morphological anomaly + + + Disorder + + + + 31051115[PMID] + + basonuclin zinc finger protein 2 + BNC2 + + BSN2 + FLJ20043 + bn2 + + + gene with protein product + + + + HGNC + 30988 + + + Ensembl + ENSG00000173068 + + + SwissProt + Q6ZN30 + + + OMIM + 608669 + + + + + 9p22.3-p22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 527450 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527450 + Severe myopia-generalized joint laxity-short stature syndrome + + Malformation syndrome + + + Disorder + + + + 28475863[PMID] + + GDNF inducible zinc finger protein 1 + GZF1 + + dJ322G13.2 + ZBTB23 + + + gene with protein product + + + + HGNC + 15808 + + + OMIM + 613842 + + + Ensembl + ENSG00000125812 + + + SwissProt + Q9H116 + + + Reactome + Q9H116 + + + + + 20p11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93100 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93100 + Renal agenesis, unilateral + + Clinical subtype + + + Subtype of disorder + + + + 21900877[PMID]_24429398[PMID] + + ret proto-oncogene + RET + + CDHF12 + CDHR16 + PTC + RET receptor tyrosine kinase + RET51 + cadherin-related family member 16 + rearranged during transfection + + + gene with protein product + + + + ClinVar + RET + + + Ensembl + ENSG00000165731 + + + Genatlas + RET + + + HGNC + 9967 + + + IUPHAR + 2185 + + + OMIM + 164761 + + + SwissProt + P07949 + + + Reactome + P07949 + + + + + 10q11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21900877[PMID]_24700879[PMID] + + Fraser extracellular matrix complex subunit 1 + FRAS1 + + FLJ14927 + FLJ22031 + KIAA1500 + + + gene with protein product + + + + ClinVar + FRAS1 + + + Ensembl + ENSG00000138759 + + + Genatlas + FRAS1 + + + HGNC + 19185 + + + OMIM + 607830 + + + SwissProt + Q86XX4 + + + + + 4q21.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21900877[PMID] + + bone morphogenetic protein 4 + BMP4 + + + + gene with protein product + + + + Ensembl + ENSG00000125378 + + + Genatlas + BMP4 + + + HGNC + 1071 + + + OMIM + 112262 + + + Reactome + P12644 + + + SwissProt + P12644 + + + ClinVar + BMP4 + + + + + 14q22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21900877[PMID]_24700879[PMID] + + FRAS1 related extracellular matrix 2 + FREM2 + + DKFZp686J0811 + + + gene with protein product + + + + HGNC + 25396 + + + OMIM + 608945 + + + SwissProt + Q5SZK8 + + + ClinVar + FREM2 + + + Ensembl + ENSG00000150893 + + + Genatlas + FREM2 + + + + + 13q13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24370773[PMID]_20807610[PMID] + + FRAS1 related extracellular matrix 1 + FREM1 + + C9orf143 + C9orf145 + DKFZp686M16108 + FLJ25461 + TILRR + + + gene with protein product + + + + Ensembl + ENSG00000164946 + + + Genatlas + FREM1 + + + HGNC + 23399 + + + OMIM + 608944 + + + SwissProt + Q5H8C1 + + + ClinVar + FREM1 + + + + + 9p22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 15888565[PMID] + + uroplakin 3A + UPK3A + + + + gene with protein product + + + + ClinVar + UPK3A + + + Ensembl + ENSG00000100373 + + + Genatlas + UPK3A + + + HGNC + 12580 + + + OMIM + 611559 + + + SwissProt + O75631 + + + + + 22q13.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23862974[PMID]_17273976[PMID] + + dual serine/threonine and tyrosine protein kinase + DSTYK + + DustyPK + KIAA0472 + RIP5 + + + gene with protein product + + + + ClinVar + DSTYK + + + Ensembl + ENSG00000133059 + + + Genatlas + DSTYK + + + HGNC + 29043 + + + IUPHAR + 2008 + + + OMIM + 612666 + + + SwissProt + Q6XUX3 + + + + + 1q32.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 29100090[PMID]_29100091[PMID] + + GREB1 like retinoic acid receptor coactivator + GREB1L + + FLJ13687 + C18orf6 + + + gene with protein product + + + + HGNC + 31042 + + + SwissProt + Q9C091 + + + ClinVar + GREB1L + + + Ensembl + ENSG00000141449 + + + Genatlas + GREB1L + + + OMIM + 617782 + + + + + 18q11.1-q11.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 527468 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527468 + Diaphragmatic hernia-short bowel-asplenia syndrome + + Malformation syndrome + + + Disorder + + + + 28898547[PMID] + + H2.0 like homeobox + HLX + + HB24 + + + gene with protein product + + + + HGNC + 4978 + + + Ensembl + ENSG00000136630 + + + SwissProt + Q14774 + + + Reactome + Q14774 + + + OMIM + 142995 + + + + + 1q41 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 92050 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92050 + Congenital tufting enteropathy + + Disease + + + Disorder + + + + 18572020[PMID] + + epithelial cell adhesion molecule + EPCAM + + BerEp4 + 17-1A + 323/A3 + CD326 + CO-17A + EGP-2 + EGP34 + EGP40 + ESA + Ep-CAM + GA733-2 + HEA125 + KS1/4 + KSA + Ly74 + MH99 + MK-1 + MOC31 + TACST-1 + TROP1 + trophoblast cell surface antigen 1 + Ber-Ep4 + MOC-31 + + + gene with protein product + + + + Reactome + P16422 + + + Ensembl + ENSG00000119888 + + + Genatlas + EPCAM + + + HGNC + 11529 + + + OMIM + 185535 + + + SwissProt + P16422 + + + ClinVar + EPCAM + + + + + 2p21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93160 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93160 + Hypocalcemic vitamin D-resistant rickets + + Disease + + + Disorder + + + + 9284761[PMID] + + vitamin D receptor + VDR + + 1,25- dihydroxyvitamin D3 receptor + NR1I1 + PPP1R163 + protein phosphatase 1, regulatory subunit 163 + + + gene with protein product + + + + ClinVar + VDR + + + Ensembl + ENSG00000111424 + + + Genatlas + VDR + + + HGNC + 12679 + + + IUPHAR + 605 + + + OMIM + 601769 + + + Reactome + P11473 + + + SwissProt + P11473 + + + + + 12q13.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93114 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93114 + Autosomal dominant intermediate Charcot-Marie-Tooth disease type E + + Disease + + + Disorder + + + + 22187985[PMID] + + inverted formin, FH2 and WH2 domain containing + INF2 + + MGC13251 + inverted formin 2 + + + gene with protein product + + + + Ensembl + ENSG00000203485 + + + Genatlas + INF2 + + + HGNC + 23791 + + + OMIM + 610982 + + + SwissProt + Q27J81 + + + ClinVar + INF2 + + + + + 14q32.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93111 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93111 + HNF1B-related autosomal dominant tubulointerstitial kidney disease + + Clinical subtype + + + Subtype of disorder + + + + 21844708[PMID]_22498247[PMID] + + HNF1 homeobox B + HNF1B + + HNF1beta + LFB3 + MODY5 + VHNF1 + HNF1ß + hepatocyte nuclear factor 1 beta + + + gene with protein product + + + + ClinVar + HNF1B + + + Ensembl + ENSG00000275410 + + + Genatlas + HNF1B + + + HGNC + 11630 + + + OMIM + 189907 + + + Reactome + P35680 + + + SwissProt + P35680 + + + + + 17q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93172 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93172 + Renal dysplasia, unilateral + + Clinical subtype + + + Subtype of disorder + + + + 28566479[PMID] + + HNF1 homeobox B + HNF1B + + HNF1beta + LFB3 + MODY5 + VHNF1 + HNF1ß + hepatocyte nuclear factor 1 beta + + + gene with protein product + + + + ClinVar + HNF1B + + + Ensembl + ENSG00000275410 + + + Genatlas + HNF1B + + + HGNC + 11630 + + + OMIM + 189907 + + + Reactome + P35680 + + + SwissProt + P35680 + + + + + 17q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93173 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93173 + Renal dysplasia, bilateral + + Clinical subtype + + + Subtype of disorder + + + + 28566479[PMID] + + HNF1 homeobox B + HNF1B + + HNF1beta + LFB3 + MODY5 + VHNF1 + HNF1ß + hepatocyte nuclear factor 1 beta + + + gene with protein product + + + + ClinVar + HNF1B + + + Ensembl + ENSG00000275410 + + + Genatlas + HNF1B + + + HGNC + 11630 + + + OMIM + 189907 + + + Reactome + P35680 + + + SwissProt + P35680 + + + + + 17q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93322 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93322 + Isolated tibial hemimelia + + Morphological anomaly + + + Disorder + + + + 26791356[PMID] + + GLI family zinc finger 3 + GLI3 + + ACLS + DNA-binding protein + PAP-A + PAPA + PAPA1 + PAPB + PPDIV + oncogene GLI3 + zinc finger protein GLI3 + + + gene with protein product + + + + Ensembl + ENSG00000106571 + + + ClinVar + GLI3 + + + Genatlas + GLI3 + + + HGNC + 4319 + + + OMIM + 165240 + + + Reactome + P10071 + + + SwissProt + P10071 + + + + + 7p14.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 93321 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93321 + Isolated radial hemimelia + + Morphological anomaly + + + Disorder + + + + 26394607[PMID] + + limb development membrane protein 1 + LMBR1 + + ACHP + FLJ11665 + ZRS + + + gene with protein product + + + + ClinVar + LMBR1 + + + Ensembl + ENSG00000105983 + + + Genatlas + LMBR1 + + + HGNC + 13243 + + + OMIM + 605522 + + + SwissProt + Q8WVP7 + + + + + 7q36.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26394607[PMID] + + sonic hedgehog signaling molecule + SHH + + HHG1 + MCOPCB5 + SMMCI + TPT + TPTPS + SHH signaling molecule + + + gene with protein product + + + + ClinVar + SHH + + + Ensembl + ENSG00000164690 + + + Genatlas + SHH + + + HGNC + 10848 + + + OMIM + 600725 + + + Reactome + Q15465 + + + SwissProt + Q15465 + + + + + 7q36.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93325 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93325 + Autosomal dominant Kenny-Caffey syndrome + + Etiological subtype + + + Subtype of disorder + + + + 23684011[PMID] + + FAM111 trypsin like peptidase A + FAM111A + + FLJ22794 + KIAA1895 + + + gene with protein product + + + + Ensembl + ENSG00000166801 + + + Genatlas + FAM111A + + + HGNC + 24725 + + + OMIM + 615292 + + + SwissProt + Q96PZ2 + + + ClinVar + FAM111A + + + + + 11q12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93324 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93324 + Autosomal recessive Kenny-Caffey syndrome + + Etiological subtype + + + Subtype of disorder + + + + 12389028[PMID] + + tubulin folding cofactor E + TBCE + + KCS1 + pac2 + + + gene with protein product + + + + HGNC + 11582 + + + OMIM + 604934 + + + Reactome + Q15813 + + + SwissProt + Q15813 + + + Genatlas + TBCE + + + Ensembl + ENSG00000284770 + + + ClinVar + TBCE + + + + + 1q42.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93329 + Autosomal recessive omodysplasia + + Clinical subtype + + + Subtype of disorder + + + + 19481194[PMID] + + glypican 6 + GPC6 + + glypican proteoglycan 6 + + + gene with protein product + + + + ClinVar + GPC6 + + + SwissProt + Q9Y625 + + + Ensembl + ENSG00000183098 + + + Genatlas + GPC6 + + + HGNC + 4454 + + + OMIM + 604404 + + + Reactome + Q9Y625 + + + + + 13q31.3-q32.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 93328 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93328 + Autosomal dominant omodysplasia + + Clinical subtype + + + Subtype of disorder + + + + 25759469[PMID] + + frizzled class receptor 2 + FZD2 + + + + gene with protein product + + + + IUPHAR + 230 + + + OMIM + 600667 + + + Reactome + Q14332 + + + SwissProt + Q14332 + + + Ensembl + ENSG00000180340 + + + Genatlas + FZD2 + + + HGNC + 4040 + + + ClinVar + FZD2 + + + + + 17q21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93336 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93336 + Polydactyly of a triphalangeal thumb + + Morphological anomaly + + + Disorder + + + + 26394607[PMID] + + sonic hedgehog signaling molecule + SHH + + HHG1 + MCOPCB5 + SMMCI + TPT + TPTPS + SHH signaling molecule + + + gene with protein product + + + + ClinVar + SHH + + + Ensembl + ENSG00000164690 + + + Genatlas + SHH + + + HGNC + 10848 + + + OMIM + 600725 + + + Reactome + Q15465 + + + SwissProt + Q15465 + + + + + 7q36.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26394607[PMID] + + limb development membrane protein 1 + LMBR1 + + ACHP + FLJ11665 + ZRS + + + gene with protein product + + + + ClinVar + LMBR1 + + + Ensembl + ENSG00000105983 + + + Genatlas + LMBR1 + + + HGNC + 13243 + + + OMIM + 605522 + + + SwissProt + Q8WVP7 + + + + + 7q36.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93335 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93335 + Postaxial polydactyly type B + + Morphological anomaly + + + Disorder + + + + 31549748[PMID] + + GLI family zinc finger 1 + GLI1 + + + + gene with protein product + + + + Ensembl + ENSG00000111087 + + + SwissProt + P08151 + + + OMIM + 165220 + + + Reactome + P08151 + + + ClinVar + GLI1 + + + HGNC + 4317 + + + Genatlas + GLI1 + + + + + 12q13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26394607[PMID]_18000979[PMID] + + GLI family zinc finger 3 + GLI3 + + ACLS + DNA-binding protein + PAP-A + PAPA + PAPA1 + PAPB + PPDIV + oncogene GLI3 + zinc finger protein GLI3 + + + gene with protein product + + + + Ensembl + ENSG00000106571 + + + ClinVar + GLI3 + + + Genatlas + GLI3 + + + HGNC + 4319 + + + OMIM + 165240 + + + Reactome + P10071 + + + SwissProt + P10071 + + + + + 7p14.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93334 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93334 + Postaxial polydactyly type A + + Morphological anomaly + + + Disorder + + + + 31549748[PMID] + + GLI family zinc finger 1 + GLI1 + 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26394607[PMID]_28488682[PMID] + + IQ motif containing E + IQCE + + KIAA1023 + + + gene with protein product + + + + ClinVar + IQCE + + + OMIM + 617631 + + + Genatlas + IQCE + + + Reactome + Q6IPM2 + + + HGNC + 29171 + + + Ensembl + ENSG00000106012 + + + SwissProt + Q6IPM2 + + + + + 7p22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26394607[PMID]_22428873[PMID] + + GLI family zinc finger 3 + GLI3 + + ACLS + DNA-binding protein + PAP-A + PAPA + PAPA1 + PAPB + PPDIV + oncogene GLI3 + zinc finger protein GLI3 + + + gene with protein product + + + + Ensembl + ENSG00000106571 + + + ClinVar + GLI3 + + + Genatlas + GLI3 + + + HGNC + 4319 + + + OMIM + 165240 + + + Reactome + P10071 + + + SwissProt + P10071 + + + + + 7p14.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 30395363[PMID] + + CBY1 interacting BAR domain containing 1 + CIBAR1 + + FLJ38979 + BARMR1 + + + gene with protein product + + + + Ensembl + ENSG00000188343 + + + HGNC + 30452 + + + SwissProt + A1XBS5 + + + Reactome + A1XBS5 + + + OMIM + 617273 + + + + + 8q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93333 + Pelviscapular dysplasia + + Malformation syndrome + + + Disorder + + + + 19068278[PMID]_24039145[PMID] + + T-box transcription factor 15 + TBX15 + + + + gene with protein product + + + + Ensembl + ENSG00000092607 + + + Genatlas + TBX15 + + + HGNC + 11594 + + + OMIM + 604127 + + + SwissProt + Q96SF7 + + + Reactome + Q96SF7 + + + ClinVar + TBX15 + + + + + 1p12 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 93339 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93339 + Polydactyly of a biphalangeal thumb and/or hallux + + Morphological anomaly + + + Disorder + + + + 30620395[PMID] + + GLI family zinc finger 1 + GLI1 + + + + gene with protein product + + + + Ensembl + ENSG00000111087 + + + SwissProt + P08151 + + + OMIM + 165220 + + + Reactome + P08151 + + + ClinVar + GLI1 + + + HGNC + 4317 + + + Genatlas + GLI1 + + + + + 12q13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93338 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93338 + Polysyndactyly + + Morphological anomaly + + + Disorder + + + + 26394607[PMID] + + GLI family zinc finger 3 + GLI3 + + ACLS + DNA-binding protein + PAP-A + PAPA + PAPA1 + PAPB + PPDIV + oncogene GLI3 + zinc finger protein GLI3 + + + gene with protein product + + + + Ensembl + ENSG00000106571 + + + ClinVar + GLI3 + + + Genatlas + GLI3 + + + HGNC + 4319 + + + OMIM + 165240 + + + Reactome + P10071 + + + SwissProt + P10071 + + + + + 7p14.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93349 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93349 + X-linked spondyloepimetaphyseal dysplasia + + Disease + + + Disorder + + + + 27236923[PMID] + + biglycan + BGN + + biglycan proteoglycan + DSPG1 + SLRR1A + + + gene with protein product + + + + ClinVar + BGN + + + HGNC + 1044 + + + OMIM + 301870 + + + Genatlas + BGN + + + SwissProt + P21810 + + + Reactome + P21810 + + + Ensembl + ENSG00000182492 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93346 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93346 + Spondyloepimetaphyseal dysplasia congenita, Strudwick type + + Disease + + + Disorder + + + + 7550321[PMID] + + collagen type II alpha 1 chain + COL2A1 + + STL1 + + + gene with protein product + + + + ClinVar + COL2A1 + + + Ensembl + ENSG00000139219 + + + Genatlas + COL2A1 + + + HGNC + 2200 + + + OMIM + 120140 + + + Reactome + P02458 + + + SwissProt + P02458 + + + + + 12q13.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93347 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93347 + Anauxetic dysplasia + + Disease + + + Disorder + + + + 22420014[PMID] + + RNA component of mitochondrial RNA processing endoribonuclease + RMRP + + NME1 + RMRPR + RRP2 + RNase MRP RNA + + + Non-coding RNA + + + + ClinVar + RMRP + + + Ensembl + ENSG00000277027 + + + Genatlas + RMRP + + + HGNC + 10031 + + + OMIM + 157660 + + + + + 9p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21455487[PMID] + + POP1 ribonuclease P/MRP subunit + POP1 + + processing of precursors 1 + + + gene with protein product + + + + Ensembl + ENSG00000104356 + + + Genatlas + POP1 + + + HGNC + 30129 + + + OMIM + 602486 + + + Reactome + Q99575 + + + SwissProt + Q99575 + + + ClinVar + POP1 + + + + + 8q22.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 31250547[PMID] + + ribonuclease MRP subunit p64 + RMP64 + + DKFZP434F2021 + NET17 + + + gene with protein product + + + + SwissProt + Q6NW34 + + + OMIM + 617089 + + + HGNC + 24496 + + + Ensembl + ENSG00000163608 + + + + + 3q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93356 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93356 + Spondyloepimetaphyseal dysplasia, Missouri type + + Disease + + + Disorder + + + + + + matrix metallopeptidase 13 + MMP13 + + CLG3 + collagenase 3 + + + gene with protein product + + + + Ensembl + ENSG00000137745 + + + Genatlas + MMP13 + + + HGNC + 7159 + + + IUPHAR + 1637 + + + OMIM + 600108 + + + Reactome + P45452 + + + SwissProt + P45452 + + + ClinVar + MMP13 + + + + + 11q22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93352 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93352 + Spondyloepimetaphyseal dysplasia, Shohat type + + Disease + + + Disorder + + + + 28263186[PMID] + + DDRGK domain containing 1 + DDRGK1 + + Dashurin + dJ1187M17.3 + UFBP1 + + + gene with protein product + + + + SwissProt + Q96HY6 + + + OMIM + 616177 + + + Genatlas + DDRGK1 + + + ClinVar + DDRGK1 + + + HGNC + 16110 + + + Ensembl + ENSG00000198171 + + + + + 20p13 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 93284 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93284 + Spondyloepiphyseal dysplasia tarda + + Disease + + + Disorder + + + + 20301324[PMID] + + trafficking protein particle complex subunit 2 + TRAPPC2 + + MIP-2A + SEDT + TRS20 + ZNF547L + hYP38334 + + + gene with protein product + + + + Ensembl + ENSG00000196459 + + + Genatlas + TRAPPC2 + + + HGNC + 23068 + + + OMIM + 300202 + + + Reactome + P0DI81 + + + SwissProt + P0DI81 + + + ClinVar + TRAPPC2 + + + + + Xp22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93296 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93296 + Achondrogenesis type 2 + + Clinical subtype + + + Subtype of disorder + + + + 10797431[PMID] + + collagen type II alpha 1 chain + COL2A1 + + STL1 + + + gene with protein product + + + + ClinVar + COL2A1 + + + Ensembl + ENSG00000139219 + + + Genatlas + COL2A1 + + + HGNC + 2200 + + + OMIM + 120140 + + + Reactome + P02458 + + + SwissProt + P02458 + + + + + 12q13.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93298 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93298 + Achondrogenesis type 1B + + Clinical subtype + + + Subtype of disorder + + + + 20301689[PMID] + + solute carrier family 26 member 2 + SLC26A2 + + DTDST + diastrophic dysplasia sulfate transporter + + + gene with protein product + + + + Ensembl + ENSG00000155850 + + + Genatlas + SLC26A2 + + + HGNC + 10994 + + + OMIM + 606718 + + + Reactome + P50443 + + + SwissProt + P50443 + + + ClinVar + SLC26A2 + + + IUPHAR + 1098 + + + + + 5q32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93297 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93297 + Hypochondrogenesis + + Clinical subtype + + + Subtype of disorder + + + + 10797431[PMID] + + collagen type II alpha 1 chain + COL2A1 + + STL1 + + + gene with protein product + + + + ClinVar + COL2A1 + + + Ensembl + ENSG00000139219 + + + Genatlas + COL2A1 + + + HGNC + 2200 + + + OMIM + 120140 + + + Reactome + P02458 + + + SwissProt + P02458 + + + + + 12q13.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93299 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93299 + Achondrogenesis type 1A + + Clinical subtype + + + Subtype of disorder + + + + 20089971[PMID] + + thyroid hormone receptor interactor 11 + TRIP11 + + CEV14 + GMAP-210 + GMAP210 + Trip230 + golgi-microtubule-associated-protein of 210 kDa + + + gene with protein product + + + + ClinVar + TRIP11 + + + OMIM + 604505 + + + Reactome + Q15643 + + + SwissProt + Q15643 + + + Ensembl + ENSG00000100815 + + + Genatlas + TRIP11 + + + HGNC + 12305 + + + + + 14q32.12 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 93304 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93304 + Autosomal dominant brachyolmia + + Malformation syndrome + + + Disorder + + + + 18587396[PMID]_24830047[PMID] + + transient receptor potential cation channel subfamily V member 4 + TRPV4 + + CMT2C + OTRPC4 + TRP12 + VR-OAC + VRL-2 + VROAC + osmosensitive transient receptor potential channel 4 + + + gene with protein product + + + + Ensembl + ENSG00000111199 + + + Genatlas + TRPV4 + + + HGNC + 18083 + + + IUPHAR + 510 + + + OMIM + 605427 + + + Reactome + Q9HBA0 + + + SwissProt + Q9HBA0 + + + ClinVar + TRPV4 + + + + + 12q24.11 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 93307 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93307 + Multiple epiphyseal dysplasia type 4 + + Disease + + + Disorder + + + + 20301483[PMID] + + solute carrier family 26 member 2 + SLC26A2 + + DTDST + diastrophic dysplasia sulfate transporter + + + gene with protein product + + + + Ensembl + ENSG00000155850 + + + Genatlas + SLC26A2 + + + HGNC + 10994 + + + OMIM + 606718 + + + Reactome + P50443 + + + SwissProt + P50443 + + + ClinVar + SLC26A2 + + + IUPHAR + 1098 + + + + + 5q32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93308 + Multiple epiphyseal dysplasia type 1 + + Disease + + + Disorder + + + + 20301302[PMID] + + cartilage oligomeric matrix protein + COMP + + MED + THBS5 + thrombospondin-5 + multiple epiphyseal dysplasia + TSP5 + TSP-5 + + + gene with protein product + + + + ClinVar + COMP + + + Ensembl + ENSG00000105664 + + + Genatlas + COMP + + + HGNC + 2227 + + + OMIM + 600310 + + + Reactome + P49747 + + + SwissProt + P49747 + + + + + 19p13.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93311 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93311 + Multiple epiphyseal dysplasia type 5 + + Disease + + + Disorder + + + + 20301302[PMID] + + matrilin 3 + MATN3 + + EDM5 + HOA + + + gene with protein product + + + + SwissProt + O15232 + + + Ensembl + ENSG00000132031 + + + Genatlas + MATN3 + + + HGNC + 6909 + + + OMIM + 602109 + + + Reactome + O15232 + + + ClinVar + MATN3 + + + + + 2p24.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93314 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93314 + Spondylometaphyseal dysplasia, Kozlowski type + + Disease + + + Disorder + + + + 24830047[PMID] + + transient receptor potential cation channel subfamily V member 4 + TRPV4 + + CMT2C + OTRPC4 + TRP12 + VR-OAC + VRL-2 + VROAC + osmosensitive transient receptor potential channel 4 + + + gene with protein product + + + + Ensembl + ENSG00000111199 + + + Genatlas + TRPV4 + + + HGNC + 18083 + + + IUPHAR + 510 + + + OMIM + 605427 + + + Reactome + Q9HBA0 + + + SwissProt + Q9HBA0 + + + ClinVar + TRPV4 + + + + + 12q24.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93315 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93315 + Spondylometaphyseal dysplasia, 'corner fracture' type + + Disease + + + Disorder + + + + 17163530[PMID] + + collagen type II alpha 1 chain + COL2A1 + + STL1 + + + gene with protein product + + + + ClinVar + COL2A1 + + + Ensembl + ENSG00000139219 + + + Genatlas + COL2A1 + + + HGNC + 2200 + + + OMIM + 120140 + + + Reactome + P02458 + + + SwissProt + P02458 + + + + + 12q13.11 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 29100092[PMID] + + fibronectin 1 + FN1 + + CIG + Cold-insoluble globulin + FINC + GFND2 + LETS + MSF + Migration-stimulating factor + lnc-ABCA12-8 + cold-insoluble globulin + migration-stimulating factor + + + gene with protein product + + + + ClinVar + FN1 + + + Ensembl + ENSG00000115414 + + + Genatlas + FN1 + + + HGNC + 3778 + + + OMIM + 135600 + + + Reactome + P02751 + + + SwissProt + P02751 + + + + + 2q35 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93316 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93316 + Spondylometaphyseal dysplasia, Schmidt type + + Disease + + + Disorder + + + + 23653587[PMID] + + collagen type II alpha 1 chain + COL2A1 + + STL1 + + + gene with protein product + + + + ClinVar + COL2A1 + + + Ensembl + ENSG00000139219 + + + Genatlas + COL2A1 + + + HGNC + 2200 + + + OMIM + 120140 + + + Reactome + P02458 + + + SwissProt + P02458 + + + + + 12q13.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93317 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93317 + Spondylometaphyseal dysplasia, Sedaghatian type + + Malformation syndrome + + + Disorder + + + + 24706940[PMID] + + glutathione peroxidase 4 + GPX4 + + MCSP + PHGPx + phospholipid hydroperoxidase + selenoprotein GPX4 + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529665 + Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome + + Malformation syndrome + + + Disorder + + + + 29100095[PMID] + + glycosylphosphatidylinositol anchor attachment 1 + GPAA1 + + GPI transamidase subunit + GAA1 + hGAA1 + + + gene with protein product + + + + HGNC + 4446 + + + Ensembl + ENSG00000197858 + + + SwissProt + O43292 + + + Reactome + O43292 + + + OMIM + 603048 + + + + + 8q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 90647 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90647 + Jervell and Lange-Nielsen syndrome + + Disease + + + Disorder + + + + 20301579[PMID]_24093767[PMID] + + potassium voltage-gated channel subfamily E regulatory subunit 1 + KCNE1 + + ISK + JLNS2 + LQT5 + minK + Long QT syndrome 5 + Jervell and Lange-Nielsen syndrome 2 + IsK + + + gene with protein product + + + + Reactome + P15382 + + + SwissProt + P15382 + + + Ensembl + ENSG00000180509 + + + Genatlas + KCNE1 + + + HGNC + 6240 + + + OMIM + 176261 + + + ClinVar + KCNE1 + + + + + 21q22.12 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 20301579[PMID]_24093767[PMID] + + potassium voltage-gated channel subfamily Q member 1 + KCNQ1 + + JLNS1 + Jervell and Lange-Nielsen syndrome 1 + KCNA8 + KVLQT1 + Kv7.1 + LQT1 + + + gene with protein product + + + + Ensembl + ENSG00000053918 + + + Genatlas + KCNQ1 + + + HGNC + 6294 + + + IUPHAR + 560 + + + OMIM + 607542 + + + Reactome + P51787 + + + SwissProt + P51787 + + + ClinVar + KCNQ1 + + + + + 11p15.5-p15.4 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 90650 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650 + Otopalatodigital syndrome type 1 + + Malformation syndrome + + + Disorder + + + + 20301567[PMID] + + filamin A + FLNA + + ABP-280 + actin binding protein 280 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Assessed + + + + 23824657[PMID]_25835445[PMID] + + transforming growth factor beta 3 + TGFB3 + + prepro-transforming growth factor beta-3 + + + gene with protein product + + + + ClinVar + TGFB3 + + + SwissProt + P10600 + + + Ensembl + ENSG00000119699 + + + Genatlas + TGFB3 + + + HGNC + 11769 + + + OMIM + 190230 + + + Reactome + P10600 + + + + + 14q24.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 20301299[PMID] + + transforming growth factor beta receptor 1 + TGFBR1 + + ALK5 + TBRI + TBR-i + ACVRLK4 + ALK-5 + activin A receptor type II-like kinase, 53kDa + + + gene with protein product + + + + ClinVar + TGFBR1 + + + Ensembl + ENSG00000106799 + + + Genatlas + TGFBR1 + + + HGNC + 11772 + + + IUPHAR + 1788 + + + OMIM + 190181 + + + Reactome + P36897 + + + SwissProt + P36897 + + + + + 9q22.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301299[PMID] + + transforming growth factor beta receptor 2 + TGFBR2 + 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Genatlas + TGFB2 + + + HGNC + 11768 + + + OMIM + 190220 + + + Reactome + P61812 + + + SwissProt + P61812 + + + + + 1q41 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 30809044[PMID] + + SMAD family member 4 + SMAD4 + + DPC4 + + + gene with protein product + + + + ClinVar + SMAD4 + + + Ensembl + ENSG00000141646 + + + Genatlas + SMAD4 + + + HGNC + 6770 + + + OMIM + 600993 + + + Reactome + Q13485 + + + SwissProt + Q13485 + + + + + 18q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301299[PMID] + + myosin heavy chain 11 + MYH11 + + SMHC + SMMHC + SMMS-1 + + + gene with protein product + + + + ClinVar + MYH11 + + + Ensembl + ENSG00000133392 + + + Genatlas + MYH11 + + + HGNC + 7569 + + + OMIM + 160745 + + + Reactome + P35749 + + + SwissProt + P35749 + + + + + 16p13.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 91411 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91411 + 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member 13 + KCNJ13 + + Kir1.4 + Kir7.1 + LCA16 + + + gene with protein product + + + + Ensembl + ENSG00000115474 + + + Genatlas + KCNJ13 + + + HGNC + 6259 + + + IUPHAR + 443 + + + OMIM + 603208 + + + SwissProt + O60928 + + + ClinVar + KCNJ13 + + + + + 2q37.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 91495 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91495 + Persistent hyperplastic primary vitreous + + Disease + + + Disorder + + + + 19172507[PMID]_20092598[PMID]_20301506[PMID] + + frizzled class receptor 4 + FZD4 + + CD344 + + + gene with protein product + + + + ClinVar + FZD4 + + + Ensembl + ENSG00000174804 + + + Genatlas + FZD4 + + + HGNC + 4042 + + + IUPHAR + 232 + + + OMIM + 604579 + + + Reactome + Q9ULV1 + + + SwissProt + Q9ULV1 + + + + + 11q14.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301506[PMID] + + norrin cystine knot growth factor NDP + NDP + + norrin + + + gene with protein product 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ClinVar + PITX2 + + + Reactome + Q99697 + + + + + 4q25 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 91414 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91414 + Pilomatrixoma + + Disease + + + Disorder + + + + 10192393[PMID] + + catenin beta 1 + CTNNB1 + + armadillo + beta-catenin + + + gene with protein product + + + + ClinVar + CTNNB1 + + + Ensembl + ENSG00000168036 + + + Genatlas + CTNNB1 + + + HGNC + 2514 + + + OMIM + 116806 + + + Reactome + P35222 + + + SwissProt + P35222 + + + + + 3p22.1 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 91490 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91490 + Isolated congenital sclerocornea + + Morphological anomaly + + + Disorder + + + + 28455998[PMID] + + gap junction protein alpha 8 + GJA8 + + CX50 + connexin 50 + + + gene with protein product + + + + ClinVar + GJA8 + + + Ensembl + ENSG00000121634 + + + Genatlas + GJA8 + + + HGNC + 4281 + + + OMIM + 600897 + + + Reactome + P48165 + + + SwissProt + P48165 + + + IUPHAR + 732 + + + + + 1q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 91489 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91489 + Isolated congenital megalocornea + + Morphological anomaly + + + Disorder + + + + 22284829[PMID] + + chordin like 1 + CHRDL1 + + CHL + NRLN1 + + + gene with protein product + + + + HGNC + 29861 + + + OMIM + 300350 + + + Reactome + Q9BU40 + + + SwissProt + Q9BU40 + + + Ensembl + ENSG00000101938 + + + Genatlas + CHRDL1 + + + ClinVar + CHRDL1 + + + + + Xq23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 91483 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91483 + Rieger anomaly + + Morphological anomaly + + + Disorder + + + + 19513095[PMID]_24433355[PMID] + + paired like homeodomain 2 + PITX2 + + ARP1 + Brx1 + IGDS + Otlx2 + RS + + + gene with protein product + + + + Ensembl + ENSG00000164093 + + + Genatlas + PITX2 + + + HGNC + 9005 + + + OMIM + 601542 + + + SwissProt + Q99697 + + + ClinVar + PITX2 + + + Reactome + Q99697 + + + + + 4q25 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 9620769[PMID]_11170889[PMID] + + forkhead box C1 + FOXC1 + + ARA + FREAC3 + IGDA + IHG1 + + + gene with protein product + + + + OMIM + 601090 + + + SwissProt + Q12948 + + + Ensembl + ENSG00000054598 + + + Genatlas + FOXC1 + + + HGNC + 3800 + + + ClinVar + FOXC1 + + + Reactome + Q12948 + + + + + 6p25.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 91130 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91130 + Cardiomyopathy-hypotonia-lactic acidosis syndrome + + Disease + + + Disorder + + + + 17273968[PMID] + + solute carrier family 25 member 3 + SLC25A3 + + PTP + Phosphate carrier protein, mitochondrial + PiC + phosphate transport protein + + + gene with protein product + + + + ClinVar + SLC25A3 + + + Reactome + Q00325 + + + IUPHAR + 1061 + + + Ensembl + ENSG00000075415 + + + Genatlas + SLC25A3 + + + HGNC + 10989 + + + OMIM + 600370 + + + SwissProt + Q00325 + + + + + 12q23.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 91131 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91131 + DK1-CDG + + Disease + + + Disorder + + + + 20301507[PMID] + + dolichol kinase + DOLK + + DK1 + KIAA1094 + dolichol kinase 1 + + + gene with protein product + + + + ClinVar + DOLK + + + Ensembl + ENSG00000175283 + + + Genatlas + DOLK + + + HGNC + 23406 + + + OMIM + 610746 + + + Reactome + Q9UPQ8 + + + SwissProt + Q9UPQ8 + + + + + 9q34.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 91132 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91132 + Ichthyosis-hypotrichosis syndrome + + Disease + + + Disorder + + + + 17273967[PMID] + + ST14 transmembrane serine protease matriptase + ST14 + + HAI + MT-SP1 + SNC19 + TMPRSS14 + epithin + matriptase + CAP3 + channel–activating protein 3 + channel–activating protein 3 + + + gene with protein product + + + + Reactome + Q9Y5Y6 + + + ClinVar + ST14 + + + Ensembl + ENSG00000149418 + + + Genatlas + ST14 + + + HGNC + 11344 + + + IUPHAR + 2418 + + + OMIM + 606797 + + + SwissProt + Q9Y5Y6 + + + + + 11q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 90793 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90793 + Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency + + Disease + + + Disorder + + + + + + cytochrome P450 family 17 subfamily A member 1 + CYP17A1 + + CPT7 + P450C17 + S17AH + Steroid 17-alpha-monooxygenase + + + gene with protein product + + + + ClinVar + CYP17A1 + + + Ensembl + ENSG00000148795 + + + Genatlas + CYP17A1 + + + HGNC + 2593 + + + IUPHAR + 1361 + + + OMIM + 609300 + + + Reactome + P05093 + + + SwissProt + P05093 + + + + + 10q24.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 90795 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90795 + Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency + + Disease + + + Disorder + + + + + + cytochrome P450 family 11 subfamily B member 1 + CYP11B1 + + steroid 11-beta-monooxygenase + CPN1 + FHI + P450C11 + + + gene with protein product + + + + ClinVar + CYP11B1 + + + IUPHAR + 1359 + + + OMIM + 610613 + + + Reactome + P15538 + + + SwissProt + P15538 + + + Ensembl + ENSG00000160882 + + + Genatlas + CYP11B1 + + + HGNC + 2591 + + + + + 8q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 90796 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90796 + 46,XY difference of sex development due to isolated 17,20-lyase deficiency + + Disease + + + Disorder + + + + 20080843[PMID] + + cytochrome b5 type A + CYB5A + + MCB5 + Microsomal cytochrome b5 + + + gene with protein product + + + + Ensembl + ENSG00000166347 + + + Genatlas + CYB5A + + + HGNC + 2570 + + + OMIM + 613218 + + + Reactome + P00167 + + + SwissProt + P00167 + + + ClinVar + CYB5A + + + + + 18q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 12466376[PMID] + + cytochrome P450 family 17 subfamily A member 1 + CYP17A1 + + CPT7 + P450C17 + S17AH + Steroid 17-alpha-monooxygenase + + + gene with protein product + + + + ClinVar + CYP17A1 + + + Ensembl + ENSG00000148795 + + + Genatlas + CYP17A1 + + + HGNC + 2593 + + + IUPHAR + 1361 + + + OMIM + 609300 + + + Reactome + P05093 + + + SwissProt + P05093 + + + + + 10q24.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 90797 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90797 + Partial androgen insensitivity syndrome + + Disease + + + Disorder + + + + 20301602[PMID] + + androgen receptor + AR + + AIS + HUMARA + Kennedy disease + NR3C4 + SMAX1 + testicular feminization + + + gene with protein product + + + + Ensembl + ENSG00000169083 + + + Genatlas + AR + + + HGNC + 644 + + + IUPHAR + 628 + + + OMIM + 313700 + + + Reactome + P10275 + + + SwissProt + P10275 + + + ClinVar + AR + + + + + Xq12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 91347 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91347 + TSH-secreting pituitary adenoma + + Disease + + + Disorder + + + + 28413019[PMID] + + cadherin related 23 + CDH23 + + CDHR23 + cadherin-related family member 23 + + + gene with protein product + + + + Ensembl + ENSG00000107736 + + + Genatlas + CDH23 + + + HGNC + 13733 + + + OMIM + 605516 + + + SwissProt + Q9H251 + + + ClinVar + CDH23 + + + + + 10q22.1 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 91352 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91352 + Germinoma of the central nervous system + + Clinical subtype + + + Subtype of disorder + + + + 24896186[PMID] + + jumonji domain containing 1C + JMJD1C + + KDM3C + DKFZp761F0118 + FLJ14374 + KIAA1380 + + + gene with protein product + + + + Ensembl + ENSG00000171988 + + + Genatlas + JMJD1C + + + HGNC + 12313 + + + OMIM + 604503 + + + Reactome + Q15652 + + + SwissProt + Q15652 + + + IUPHAR + 2663 + + + ClinVar + JMJD1C + + + + + 10q21.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 91135 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91135 + Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency + + Disease + + + Disorder + + + + 17110937[PMID] + + gamma-glutamyl carboxylase + GGCX + + VKCFD1 + vitamin K-dependent gamma-carboxylase + peptidyl-glutamate 4-carboxylase + + + gene with protein product + + + + ClinVar + GGCX + + + Ensembl + ENSG00000115486 + + + Genatlas + GGCX + + + HGNC + 4247 + + + IUPHAR + 1268 + + + OMIM + 137167 + + + Reactome + P38435 + + + SwissProt + P38435 + + + + + 2p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79396 + Autosomal dominant generalized epidermolysis bullosa simplex, severe form + + Disease + + + Disorder + + + + 20301543[PMID] + + keratin 14 + KRT14 + + epidermolysis bullosa simplex, Dowling-Meara, Koebner + + + gene with protein product + + + + ClinVar + KRT14 + + + Genatlas + KRT14 + + + HGNC + 6416 + + + OMIM + 148066 + + + Reactome + P02533 + + + SwissProt + P02533 + + + Ensembl + ENSG00000186847 + + + + + 17q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301543[PMID] + + keratin 5 + KRT5 + + KRT5A + CK-5 + + + gene with protein product + + + + ClinVar + KRT5 + + + Ensembl + ENSG00000186081 + + + Genatlas + KRT5 + + + HGNC + 6442 + + + OMIM + 148040 + + + Reactome + P13647 + + + SwissProt + P13647 + + + + + 12q13.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79397 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79397 + Epidermolysis bullosa simplex with mottled pigmentation + + Disease + + + Disorder + + + + 16601668[PMID]_20301543[PMID] + + keratin 14 + KRT14 + + epidermolysis bullosa simplex, Dowling-Meara, Koebner + + + gene with protein product + + + + ClinVar + KRT14 + + + Genatlas + KRT14 + + + HGNC + 6416 + + + OMIM + 148066 + + + Reactome + P02533 + + + SwissProt + P02533 + + + Ensembl + ENSG00000186847 + + + + + 17q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301543[PMID] + + keratin 5 + KRT5 + + KRT5A + CK-5 + + + gene with protein product + + + + ClinVar + KRT5 + + + Ensembl + ENSG00000186081 + + + Genatlas + KRT5 + + + HGNC + 6442 + + + OMIM + 148040 + + + Reactome + P13647 + + + SwissProt + P13647 + + + + + 12q13.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79394 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79394 + Congenital ichthyosiform erythroderma + + Disease + + + Disorder + + + + 18284401[PMID]_19262603[PMID]_22257947[PMID] + + ATP binding cassette subfamily A member 12 + ABCA12 + + DKFZP434G232 + LI2 + + + gene with protein product + + + + HGNC + 14637 + + + IUPHAR + 766 + + + OMIM + 607800 + + + Reactome + Q86UK0 + + + SwissProt + Q86UK0 + + + Ensembl + ENSG00000144452 + + + Genatlas + ABCA12 + + + ClinVar + ABCA12 + + + + + 2q35 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 16792775[PMID]_18347291[PMID]_12780701[PMID]_20301593[PMID] + + arachidonate 12-lipoxygenase, 12R type + ALOX12B + + 12R-LOX + 12R-lipoxygenase + + + gene with protein product + + + + ClinVar + ALOX12B + + + Ensembl + ENSG00000179477 + + + Genatlas + ALOX12B + + + HGNC + 430 + + + OMIM + 603741 + + + Reactome + O75342 + + + SwissProt + O75342 + + + IUPHAR + 1386 + + + + + 17p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 12780701[PMID] + + arachidonate epidermal lipoxygenase 3 + ALOXE3 + + E-LOX + eLOX3 + Epidermal lipoxygenase-3 + hydroperoxy icosatetraenoate isomerase + hydroperoxy icosatetraenoate dehydratase + hydroperoxide isomerase + + + gene with protein product + + + + Reactome + Q9BYJ1 + + + Ensembl + ENSG00000179148 + + + Genatlas + ALOXE3 + + + HGNC + 13743 + + + OMIM + 607206 + + + SwissProt + Q9BYJ1 + + + IUPHAR + 1390 + + + ClinVar + ALOXE3 + + + + + 17p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 12780701[PMID] + + transglutaminase 1 + TGM1 + + K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase + LI + LI1 + TGASE + TGK + + + gene with protein product + + + + ClinVar + TGM1 + + + Reactome + P22735 + + + Ensembl + ENSG00000092295 + + + Genatlas + TGM1 + + + HGNC + 11777 + + + OMIM + 190195 + + + SwissProt + P22735 + + + + + 14q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20016120[PMID] + + NIPA like domain containing 4 + NIPAL4 + + ICHYN + ichthyin + SLC57A6 + NIPA4 + + + gene with protein product + + + + ClinVar + NIPAL4 + + + Ensembl + ENSG00000172548 + + + Genatlas + NIPAL4 + + + HGNC + 28018 + + + OMIM + 609383 + + + Reactome + Q0D2K0 + + + SwissProt + Q0D2K0 + + + IUPHAR + 3038 + + + + + 5q33.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22246504[PMID] + + patatin like domain 1, omega-hydroxyceramide transacylase + PNPLA1 + + FLJ38755 + dJ50J22.1 + + + gene with protein product + + + + HGNC + 21246 + + + OMIM + 612121 + + + SwissProt + Q8N8W4 + + + Ensembl + ENSG00000180316 + + + Genatlas + PNPLA1 + + + ClinVar + PNPLA1 + + + + + 6p21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23549421[PMID] + + ceramide synthase 3 + CERS3 + + MGC27091 + + + gene with protein product + + + + HGNC + 23752 + + + OMIM + 615276 + + + Reactome + Q8IU89 + + + SwissProt + Q8IU89 + + + ClinVar + CERS3 + + + Ensembl + ENSG00000154227 + + + Genatlas + CERS3 + + + IUPHAR + 2476 + + + + + 15q26.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 28575648[PMID] + + sulfotransferase family 2B member 1 + SULT2B1 + + HSST2 + + + gene with protein product + + + + ClinVar + SULT2B1 + + + HGNC + 11459 + + + Ensembl + ENSG00000088002 + + + SwissProt + O00204 + + + OMIM + 604125 + + + Genatlas + SULT2B1 + + + Reactome + O00204 + + + + + 19q13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 28906551[PMID] + + short chain dehydrogenase/reductase family 9C member 7 + SDR9C7 + + RDHS + SDR-O + + + gene with protein product + + + + OMIM + 609769 + + + Genatlas + SDR9C7 + + + Reactome + Q8NEX9 + + + ClinVar + SDR9C7 + + + HGNC + 29958 + + + Ensembl + ENSG00000170426 + + + SwissProt + Q8NEX9 + + + + + 12q13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79395 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79395 + Keratoderma hereditarium mutilans with ichthyosis + + Disease + + + Disorder + + + + 17953701[PMID]_12072018[PMID] + + loricrin cornified envelope precursor protein + LORICRIN + + + + gene with protein product + + + + Reactome + P23490 + + + ClinVar + LOR + + + Ensembl + ENSG00000203782 + + + Genatlas + LOR + + + HGNC + 6663 + + + OMIM + 152445 + + + SwissProt + P23490 + + + + + 1q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79414 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79414 + Woolly hair nevus + + Disease + + + Disorder + + + + 24129065[PMID] + + HRas proto-oncogene, GTPase + HRAS + + + + gene with protein product + + + + HGNC + 5173 + + + OMIM + 190020 + + + Reactome + P01112 + + + SwissProt + P01112 + + + Ensembl + ENSG00000174775 + + + Genatlas + HRAS + + + ClinVar + HRAS + + + IUPHAR + 2822 + + + + + 11p15.5 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 79399 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79399 + Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form + + Disease + + + Disorder + + + + 20301543[PMID] + + keratin 14 + KRT14 + + epidermolysis bullosa simplex, Dowling-Meara, Koebner + + + gene with protein product + + + + ClinVar + KRT14 + + + Genatlas + KRT14 + + + HGNC + 6416 + + + OMIM + 148066 + + + Reactome + P02533 + + + SwissProt + P02533 + + + Ensembl + ENSG00000186847 + + + + + 17q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301543[PMID] + + keratin 5 + KRT5 + + KRT5A + CK-5 + + + gene with protein product + + + + ClinVar + KRT5 + + + Ensembl + ENSG00000186081 + + + Genatlas + KRT5 + + + HGNC + 6442 + + + OMIM + 148040 + + + Reactome + P13647 + + + SwissProt + P13647 + + + + + 12q13.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79401 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79401 + PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement + + Disease + + + Disorder + + + + 11851880[PMID] + + plectin + PLEC + + PCN + PLTN + + + gene with protein product + + + + Ensembl + ENSG00000178209 + + + Genatlas + PLEC + + + HGNC + 9069 + + + OMIM + 601282 + + + Reactome + Q15149 + + + SwissProt + Q15149 + + + ClinVar + PLEC + + + + + 8q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79400 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79400 + Localized epidermolysis bullosa simplex + + Disease + + + Disorder + + + + 20301543[PMID] + + keratin 14 + KRT14 + + epidermolysis bullosa simplex, Dowling-Meara, Koebner + + + gene with protein product + + + + ClinVar + KRT14 + + + Genatlas + KRT14 + + + HGNC + 6416 + + + OMIM + 148066 + + + Reactome + P02533 + + + SwissProt + P02533 + + + Ensembl + ENSG00000186847 + + + + + 17q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301543[PMID] + + keratin 5 + KRT5 + + KRT5A + CK-5 + + + gene with protein product + + + + ClinVar + KRT5 + + + Ensembl + ENSG00000186081 + + + Genatlas + KRT5 + + + HGNC + 6442 + + + OMIM + 148040 + + + Reactome + P13647 + + + SwissProt + P13647 + + + + + 12q13.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79403 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79403 + Junctional epidermolysis bullosa with pyloric atresia + + Disease + + + Disorder + + + + 9185503[PMID]_20301336[PMID] + + integrin subunit alpha 6 + ITGA6 + + CD49f + ITGA6A + very late activation protein 6 + ITGA6B + VLA-6 + + + gene with protein product + + + + ClinVar + ITGA6 + + + Ensembl + ENSG00000091409 + + + Genatlas + ITGA6 + + + HGNC + 6142 + + + OMIM + 147556 + + + Reactome + P23229 + + + SwissProt + P23229 + + + IUPHAR + 2445 + + + + + 2q31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 11328943[PMID]_20301336[PMID] + + integrin subunit beta 4 + ITGB4 + + CD104 + + + gene with protein product + + + + ClinVar + ITGB4 + + + Ensembl + ENSG00000132470 + + + Genatlas + ITGB4 + + + HGNC + 6158 + + + OMIM + 147557 + + + Reactome + P16144 + + + SwissProt + P16144 + + + IUPHAR + 2458 + + + + + 17q25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79402 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79402 + Intermediate generalized junctional epidermolysis bullosa + + Disease + + + Disorder + + + + 20301304[PMID] + + collagen type XVII alpha 1 chain + COL17A1 + + BP180 + + + gene with protein product + + + + ClinVar + COL17A1 + + + Ensembl + ENSG00000065618 + + + Genatlas + COL17A1 + + + HGNC + 2194 + + + OMIM + 113811 + + + Reactome + Q9UMD9 + + + SwissProt + Q9UMD9 + + + + + 10q25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 10792571[PMID]_16473856[PMID]_20301304[PMID] + + integrin subunit beta 4 + ITGB4 + + CD104 + + + gene with protein product + + + + ClinVar + ITGB4 + + + Ensembl + ENSG00000132470 + + + Genatlas + ITGB4 + + + HGNC + 6158 + + + OMIM + 147557 + + + Reactome + P16144 + + + SwissProt + P16144 + + + IUPHAR + 2458 + + + + + 17q25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301304[PMID] + + laminin subunit alpha 3 + LAMA3 + + kalinin-165kDa + nicein-150kDa + BM600-150kDa + epiligrin + + + gene with protein product + + + + ClinVar + LAMA3 + + + Ensembl + ENSG00000053747 + + + Genatlas + LAMA3 + + + HGNC + 6483 + + + OMIM + 600805 + + + Reactome + Q16787 + + + SwissProt + Q16787 + + + + + 18q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301304[PMID] + + laminin subunit beta 3 + LAMB3 + + BM600-125kDa + kalinin-140kDa + nicein-125kDa + + + gene with protein product + + + + ClinVar + LAMB3 + + + Ensembl + ENSG00000196878 + + + Genatlas + LAMB3 + + + HGNC + 6490 + + + OMIM + 150310 + + + Reactome + Q13751 + + + SwissProt + Q13751 + + + + + 1q32.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301304[PMID] + + laminin subunit gamma 2 + LAMC2 + + BM600-100kDa + kalinin-105kDa + nicein-100kDa + + + gene with protein product + + + + ClinVar + LAMC2 + + + Ensembl + ENSG00000058085 + + + Genatlas + LAMC2 + + + HGNC + 6493 + + + OMIM + 150292 + + + Reactome + Q13753 + + + SwissProt + Q13753 + + + + + 1q25.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79404 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79404 + Severe generalized junctional epidermolysis bullosa + + Disease + + + Disorder + + + + 20301304[PMID] + + laminin subunit beta 3 + LAMB3 + + BM600-125kDa + kalinin-140kDa + nicein-125kDa + + + gene with protein product + + + + ClinVar + LAMB3 + + + Ensembl + ENSG00000196878 + + + Genatlas + LAMB3 + + + HGNC + 6490 + + + OMIM + 150310 + + + Reactome + Q13751 + + + SwissProt + Q13751 + + + + + 1q32.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301304[PMID] + + laminin subunit gamma 2 + LAMC2 + + BM600-100kDa + kalinin-105kDa + nicein-100kDa + + + gene with protein product + + + + ClinVar + LAMC2 + + + Ensembl + ENSG00000058085 + + + Genatlas + LAMC2 + + + HGNC + 6493 + + + OMIM + 150292 + + + Reactome + Q13753 + + + SwissProt + Q13753 + + + + + 1q25.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301304[PMID] + + laminin subunit alpha 3 + LAMA3 + + kalinin-165kDa + nicein-150kDa + BM600-150kDa + epiligrin + + + gene with protein product + + + + ClinVar + LAMA3 + + + Ensembl + ENSG00000053747 + + + Genatlas + LAMA3 + + + HGNC + 6483 + + + OMIM + 600805 + + + Reactome + Q16787 + + + SwissProt + Q16787 + + + + + 18q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79406 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79406 + Late-onset junctional epidermolysis bullosa + + Disease + + + Disorder + + + + + + collagen type XVII alpha 1 chain + COL17A1 + + BP180 + + + gene with protein product + + + + ClinVar + COL17A1 + + + Ensembl + ENSG00000065618 + + + Genatlas + COL17A1 + + + HGNC + 2194 + + + OMIM + 113811 + + + Reactome + Q9UMD9 + + + SwissProt + Q9UMD9 + + + + + 10q25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79409 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79409 + Recessive dystrophic epidermolysis bullosa inversa + + Disease + + + Disorder + + + + + + collagen type VII alpha 1 chain + COL7A1 + + LC collagen + collagen VII, alpha-1 polypeptide + + + gene with protein product + + + + ClinVar + COL7A1 + + + Ensembl + ENSG00000114270 + + + Genatlas + COL7A1 + + + HGNC + 2214 + + + OMIM + 120120 + + + Reactome + Q02388 + + + SwissProt + Q02388 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79408 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79408 + Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form + + Disease + + + Disorder + + + + + + collagen type VII alpha 1 chain + COL7A1 + + LC collagen + collagen VII, alpha-1 polypeptide + + + gene with protein product + + + + ClinVar + COL7A1 + + + Ensembl + ENSG00000114270 + + + Genatlas + COL7A1 + + + HGNC + 2214 + + + OMIM + 120120 + + + Reactome + Q02388 + + + SwissProt + Q02388 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + matrix metallopeptidase 1 + MMP1 + + interstitial collagenase + + + gene with protein product + + + + Ensembl + ENSG00000196611 + + + Genatlas + MMP1 + + + HGNC + 7155 + + + IUPHAR + 1628 + + + OMIM + 120353 + + + Reactome + P03956 + + + SwissProt + P03956 + + + ClinVar + MMP1 + + + + + 11q22.2 + 1 + + + + + Modifying germline mutation in + + + Not yet assessed + + + + + + 79411 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79411 + Self-improving dystrophic epidermolysis bullosa + + Disease + + + Disorder + + + + + + collagen type VII alpha 1 chain + COL7A1 + + LC collagen + collagen VII, alpha-1 polypeptide + + + gene with protein product + + + + ClinVar + COL7A1 + + + Ensembl + ENSG00000114270 + + + Genatlas + COL7A1 + + + HGNC + 2214 + + + OMIM + 120120 + + + Reactome + Q02388 + + + SwissProt + Q02388 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79410 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79410 + Localized dystrophic epidermolysis bullosa, pretibial form + + Clinical subtype + + + Subtype of disorder + + + + + + collagen type VII alpha 1 chain + COL7A1 + + LC collagen + collagen VII, alpha-1 polypeptide + + + gene with protein product + + + + ClinVar + COL7A1 + + + Ensembl + ENSG00000114270 + + + Genatlas + COL7A1 + + + HGNC + 2214 + + + OMIM + 120120 + + + Reactome + Q02388 + + + SwissProt + Q02388 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79452 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79452 + Milroy disease + + Disease + + + Disorder + + + + 20301417[PMID] + + fms related receptor tyrosine kinase 4 + FLT4 + + PCL + VEGFR3 + VEGF receptor-3 + VEGFR-3 + primary congenital lymphedema + vascular endothelial growth factor receptor 3 + Feline McDonough Sarcoma (FMS)-like tyrosine kinase 4 + + + gene with protein product + + + + Ensembl + ENSG00000037280 + + + Genatlas + FLT4 + + + HGNC + 3767 + + + IUPHAR + 1814 + + + OMIM + 136352 + + + Reactome + P35916 + + + SwissProt + P35916 + + + ClinVar + FLT4 + + + + + 5q35.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79455 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79455 + Cutaneous mastocytoma + + Disease + + + Disorder + + + + 18795925[PMID]_19865100[PMID] + + KIT proto-oncogene, receptor tyrosine kinase + KIT + + C-Kit + CD117 + SCFR + mast/stem cell growth factor receptor Kit + + + gene with protein product + + + + ClinVar + KIT + + + Ensembl + ENSG00000157404 + + + Genatlas + KIT + + + HGNC + 6342 + + + IUPHAR + 1805 + + + OMIM + 164920 + + + Reactome + P10721 + + + SwissProt + P10721 + + + + + 4q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79435 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79435 + Oculocutaneous albinism type 4 + + Disease + + + Disorder + + + + + + solute carrier family 45 member 2 + SLC45A2 + + AIM-1 + OCA4 + antigen in melanoma 1 + oculocutaneous albinism type 4 + + + gene with protein product + + + + IUPHAR + 1210 + + + Ensembl + ENSG00000164175 + + + Genatlas + SLC45A2 + + + HGNC + 16472 + + + OMIM + 606202 + + + SwissProt + Q9UMX9 + + + Reactome + Q9UMX9 + + + ClinVar + SLC45A2 + + + + + 5p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79434 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79434 + Oculocutaneous albinism type 1B + + Clinical subtype + + + Subtype of disorder + + + + 20301345[PMID] + + tyrosinase + TYR + + OCA1 + OCA1A + OCAIA + oculocutaneous albinism IA + + + gene with protein product + + + + Ensembl + ENSG00000077498 + + + Genatlas + TYR + + + HGNC + 12442 + + + IUPHAR + 2643 + + + OMIM + 606933 + + + Reactome + P14679 + + + SwissProt + P14679 + + + ClinVar + TYR + + + + + 11q14.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79433 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79433 + Oculocutaneous albinism type 3 + + Disease + + + Disorder + + + + + + tyrosinase related protein 1 + TYRP1 + + CATB + GP75 + OCA3 + TRP + b-PROTEIN + + + gene with protein product + + + + Reactome + P17643 + + + ClinVar + TYRP1 + + + Ensembl + ENSG00000107165 + + + Genatlas + TYRP1 + + + HGNC + 12450 + + + OMIM + 115501 + + + SwissProt + P17643 + + + + + 9p23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79432 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79432 + Oculocutaneous albinism type 2 + + Disease + + + Disorder + + + + + + OCA2 melanosomal transmembrane protein + OCA2 + + BEY + BEY1 + BEY2 + EYCL + P-protein + melanocyte-specific transporter protein + SLC13B1 + + + gene with protein product + + + + Reactome + Q04671 + + + ClinVar + OCA2 + + + Ensembl + ENSG00000104044 + + + Genatlas + OCA2 + + + HGNC + 8101 + + + OMIM + 611409 + + + SwissProt + Q04671 + + + + + 15q12-q13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 12876664[PMID] + + melanocortin 1 receptor + MC1R + + MSH-R + alpha melanocyte stimulating hormone receptor + + + gene with protein product + + + + Ensembl + ENSG00000258839 + + + Genatlas + MC1R + + + HGNC + 6929 + + + IUPHAR + 282 + + + OMIM + 155555 + + + Reactome + Q01726 + + + SwissProt + Q01726 + + + ClinVar + MC1R + + + + + 16q24.3 + 1 + + + + + Modifying germline mutation in + + + Assessed + + + + + + 79431 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79431 + Oculocutaneous albinism type 1A + + Clinical subtype + + + Subtype of disorder + + + + 20301345[PMID] + + tyrosinase + TYR + + OCA1 + OCA1A + OCAIA + oculocutaneous albinism IA + + + gene with protein product + + + + Ensembl + ENSG00000077498 + + + Genatlas + TYR + + + HGNC + 12442 + + + IUPHAR + 2643 + + + OMIM + 606933 + + + Reactome + P14679 + + + SwissProt + P14679 + + + ClinVar + TYR + + + + + 11q14.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79445 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445 + Pseudopseudohypoparathyroidism + + Disease + + + Disorder + + + + + + GNAS complex locus + GNAS + + G protein subunit alpha S + GNASXL + GPSA + NESP + NESP55 + SCG6 + SgVI + secretogranin VI + + + gene with protein product + + + + ClinVar + GNAS + + + SwissProt + P63092 + + + SwissProt + P84996 + + + SwissProt + Q5JWF2 + + + Ensembl + ENSG00000087460 + + + Genatlas + GNAS + + + HGNC + 4392 + + + OMIM + 139320 + + + Reactome + P63092 + + + SwissProt + O95467 + + + + + 20q13.32 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79444 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79444 + Pseudohypoparathyroidism type 1C + + Disease + + + Disorder + + + + + + GNAS complex locus + GNAS + + G protein subunit alpha S + GNASXL + GPSA + NESP + NESP55 + SCG6 + SgVI + secretogranin VI + + + gene with protein product + + + + ClinVar + GNAS + + + SwissProt + P63092 + + + SwissProt + P84996 + + + SwissProt + Q5JWF2 + + + Ensembl + ENSG00000087460 + + + Genatlas + GNAS + + + HGNC + 4392 + + + OMIM + 139320 + + + Reactome + P63092 + + + SwissProt + O95467 + + + + + 20q13.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79443 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79443 + Pseudohypoparathyroidism type 1A + + Disease + + + Disorder + + + + + + GNAS complex locus + GNAS + + G protein subunit alpha S + GNASXL + GPSA + NESP + NESP55 + SCG6 + SgVI + secretogranin VI + + + gene with protein product + + + + ClinVar + GNAS + + + SwissProt + P63092 + + + SwissProt + P84996 + + + SwissProt + Q5JWF2 + + + Ensembl + ENSG00000087460 + + + Genatlas + GNAS + + + HGNC + 4392 + + + OMIM + 139320 + + + Reactome + P63092 + + + SwissProt + O95467 + + + + + 20q13.32 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79483 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79483 + Phakomatosis cesioflammea + + Clinical subtype + + + Subtype of disorder + + + + 26778290[PMID] + + G protein subunit alpha q + GNAQ + + G-ALPHA-q + GAQ + + + gene with protein product + + + + IUPHAR + 2914 + + + Ensembl + ENSG00000156052 + + + Genatlas + GNAQ + + + HGNC + 4390 + + + OMIM + 600998 + + + Reactome + P50148 + + + SwissProt + P50148 + + + ClinVar + GNAQ + + + + + 9q21.2 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 26778290[PMID] + + G protein subunit alpha 11 + GNA11 + + FBH + FBH2 + FHH2 + + + gene with protein product + + + + Reactome + P29992 + + + SwissProt + P29992 + + + Ensembl + ENSG00000088256 + + + Genatlas + GNA11 + + + HGNC + 4379 + + + OMIM + 139313 + + + ClinVar + GNA11 + + + + + 19p13.3 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 79484 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79484 + Phakomatosis cesiomarmorata + + Clinical subtype + + + Subtype of disorder + + + + 26778290[PMID] + + G protein subunit alpha 11 + GNA11 + + FBH + FBH2 + FHH2 + + + gene with protein product + + + + Reactome + P29992 + + + SwissProt + P29992 + + + Ensembl + ENSG00000088256 + + + Genatlas + GNA11 + + + HGNC + 4379 + + + OMIM + 139313 + + + ClinVar + GNA11 + + + + + 19p13.3 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 79478 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79478 + Griscelli syndrome type 3 + + Clinical subtype + + + Subtype of disorder + + + + + + melanophilin + MLPH + + synaptotagmin-like protein homologue lacking C2 domains-a + SLAC2-A + Slac-2a + exophilin-3 + l(1)-3Rk + l1Rk3 + ln + + + gene with protein product + + + + ClinVar + MLPH + + + Ensembl + ENSG00000115648 + + + Genatlas + MLPH + + + HGNC + 29643 + + + OMIM + 606526 + + + SwissProt + Q9BV36 + + + + + 2q37.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 12897212[PMID] + + myosin VA + MYO5A + + Unconventional myosin-Va + GS1 + MYO5 + MYR12 + myosin V + myosin heavy chain 12 + myosin, heavy polypeptide kinase + myoxin + + + gene with protein product + + + + OMIM + 160777 + + + Reactome + Q9Y4I1 + + + SwissProt + Q9Y4I1 + + + ClinVar + MYO5A + + + Ensembl + ENSG00000197535 + + + Genatlas + MYO5A + + + HGNC + 7602 + + + + + 15q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79474 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79474 + Atypical Werner syndrome + + Disease + + + Disorder + + + + 12927431[PMID]_19270485[PMID] + + lamin A/C + LMNA + + HGPS + MADA + mandibuloacral dysplasia type A + progerin + + + gene with protein product + + + + ClinVar + LMNA + + + Ensembl + ENSG00000160789 + + + Genatlas + LMNA + + + HGNC + 6636 + + + OMIM + 150330 + + + Reactome + P02545 + + + SwissProt + P02545 + + + + + 1q22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79477 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79477 + Griscelli syndrome type 2 + + Clinical subtype + + + Subtype of disorder + + + + + + RAB27A, member RAS oncogene family + RAB27A + + GS2 + HsT18676 + RAB27 + RAM + + + gene with protein product + + + + ClinVar + RAB27A + + + IUPHAR + 2916 + + + Ensembl + ENSG00000069974 + + + Genatlas + RAB27A + + + HGNC + 9766 + + + OMIM + 603868 + + + Reactome + P51159 + + + SwissProt + P51159 + + + + + 15q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79476 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79476 + Griscelli syndrome type 1 + + Clinical subtype + + + Subtype of disorder + + + + + + myosin VA + MYO5A + + Unconventional myosin-Va + GS1 + MYO5 + MYR12 + myosin V + myosin heavy chain 12 + myosin, heavy polypeptide kinase + myoxin + + + gene with protein product + + + + OMIM + 160777 + + + Reactome + Q9Y4I1 + + + SwissProt + Q9Y4I1 + + + ClinVar + MYO5A + + + Ensembl + ENSG00000197535 + + + Genatlas + MYO5A + + + HGNC + 7602 + + + + + 15q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79473 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79473 + Variegate porphyria + + Disease + + + Disorder + + + + 23409300[PMID] + + protoporphyrinogen oxidase + PPOX + + PPO + + + gene with protein product + + + + ClinVar + PPOX + + + Ensembl + ENSG00000143224 + + + Genatlas + PPOX + + + HGNC + 9280 + + + OMIM + 600923 + + + Reactome + P50336 + + + SwissProt + P50336 + + + + + 1q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79269 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269 + Sanfilippo syndrome type A + + Etiological subtype + + + Subtype of disorder + + + + 15146460[PMID] + + N-sulfoglucosamine sulfohydrolase + SGSH + + HSS + MPS3A + SFMD + mucopolysaccharidosis type IIIA + sulfamidase + + + gene with protein product + + + + ClinVar + SGSH + + + Ensembl + ENSG00000181523 + + + Genatlas + SGSH + + + HGNC + 10818 + + + OMIM + 605270 + + + Reactome + P51688 + + + SwissProt + P51688 + + + + + 17q25.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79257 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79257 + GM1 gangliosidosis type 3 + + Clinical subtype + + + Subtype of disorder + + + + 24156116[PMID] + + galactosidase beta 1 + GLB1 + + EBP + elastin binding protein + + + gene with protein product + + + + Ensembl + ENSG00000170266 + + + Genatlas + GLB1 + + + HGNC + 4298 + + + OMIM + 611458 + + + Reactome + P16278 + + + SwissProt + P16278 + + + ClinVar + GLB1 + + + + + 3p22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79256 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79256 + GM1 gangliosidosis type 2 + + Clinical subtype + + + Subtype of disorder + + + + 24156116[PMID] + + galactosidase beta 1 + GLB1 + + EBP + elastin binding protein + + + gene with protein product + + + + Ensembl + ENSG00000170266 + + + Genatlas + GLB1 + + + HGNC + 4298 + + + OMIM + 611458 + + + Reactome + P16278 + + + SwissProt + P16278 + + + ClinVar + GLB1 + + + + + 3p22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79255 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79255 + GM1 gangliosidosis type 1 + + Clinical subtype + + + Subtype of disorder + + + + 24156116[PMID] + + galactosidase beta 1 + GLB1 + + EBP + elastin binding protein + + + gene with protein product + + + + Ensembl + ENSG00000170266 + + + Genatlas + GLB1 + + + HGNC + 4298 + + + OMIM + 611458 + + + Reactome + P16278 + + + SwissProt + P16278 + + + ClinVar + GLB1 + + + + + 3p22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79259 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79259 + Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib + + Clinical subtype + + + Subtype of disorder + + + + + + solute carrier family 37 member 4 + SLC37A4 + + GSD1b + GSD1c + GSD1d + G6PT + glucose-6-phosphatase transporter + sugar-phosphate exchange protein 4 + SPX4 + Glucose-6-phosphate exchanger SLC37A4 + + + gene with protein product + + + + Ensembl + ENSG00000137700 + + + Genatlas + SLC37A4 + + + HGNC + 4061 + + + OMIM + 602671 + + + Reactome + O43826 + + + SwissProt + O43826 + + + IUPHAR + 1168 + + + ClinVar + SLC37A4 + + + + + 11q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79258 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79258 + Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia + + Clinical subtype + + + Subtype of disorder + + + + + + glucose-6-phosphatase catalytic subunit 1 + G6PC1 + + GSD1a + glycogen storage disease type I, von Gierke disease + G6PC1 + + + gene with protein product + + + + ClinVar + G6PC + + + HGNC + 4056 + + + OMIM + 613742 + + + Reactome + P35575 + + + SwissProt + P35575 + + + Ensembl + ENSG00000131482 + + + Genatlas + G6PC + + + + + 17q21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79246 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79246 + Pyruvate dehydrogenase phosphatase deficiency + + Clinical subtype + + + Subtype of disorder + + + + 15855260[PMID] + + pyruvate dehydrogenase phosphatase catalytic subunit 1 + PDP1 + + PDH + PDP + PPM2A + protein phosphatase, Mg2+/Mn2+ dependent 2A + + + gene with protein product + + + + ClinVar + PDP1 + + + Ensembl + ENSG00000164951 + + + Genatlas + PDP1 + + + HGNC + 9279 + + + OMIM + 605993 + + + Reactome + Q9P0J1 + + + SwissProt + Q9P0J1 + + + + + 8q22.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79240 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79240 + Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency + + Disease + + + Disorder + + + + + + phosphorylase kinase regulatory subunit beta + PHKB + + + + gene with protein product + + + + Ensembl + ENSG00000102893 + + + Genatlas + PHKB + + + HGNC + 8927 + + + OMIM + 172490 + + + Reactome + Q93100 + + + SwissProt + Q93100 + + + ClinVar + PHKB + + + + + 16q12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79241 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79241 + Biotinidase deficiency + + Disease + + + Disorder + + + + 20301497[PMID] + + biotinidase + BTD + + biotinase + biocytinase + + + gene with protein product + + + + HGNC + 1122 + + + OMIM + 609019 + + + Reactome + P43251 + + + SwissProt + P43251 + + + Ensembl + ENSG00000169814 + + + Genatlas + BTD + + + ClinVar + BTD + + + + + 3p25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79239 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79239 + Classic galactosemia + + Disease + + + Disorder + + + + 20301691[PMID] + + galactose-1-phosphate uridylyltransferase + GALT + + + + gene with protein product + + + + ClinVar + GALT + + + Ensembl + ENSG00000213930 + + + Genatlas + GALT + + + HGNC + 4135 + + + OMIM + 606999 + + + Reactome + P07902 + + + SwissProt + P07902 + + + + + 9p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79244 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79244 + Pyruvate dehydrogenase E2 deficiency + + Clinical subtype + + + Subtype of disorder + + + + 16049940[PMID] + + dihydrolipoamide S-acetyltransferase + DLAT + + dihydrolipoyllysine-residue acetyltransferase + dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial + E2 component of pyruvate dehydrogenase complex + PDC-E2 + E2 + + + gene with protein product + + + + Ensembl + ENSG00000150768 + + + Genatlas + DLAT + + + HGNC + 2896 + + + OMIM + 608770 + + + Reactome + P10515 + + + SwissProt + P10515 + + + ClinVar + DLAT + + + + + 11q23.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79242 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79242 + Holocarboxylase synthetase deficiency + + Disease + + + Disorder + + + + 16134170[PMID] + + holocarboxylase synthetase + HLCS + + biotin--protein ligase + HCS + + + gene with protein product + + + + ClinVar + HLCS + + + Ensembl + ENSG00000159267 + + + Genatlas + HLCS + + + HGNC + 4976 + + + OMIM + 609018 + + + Reactome + P50747 + + + SwissProt + P50747 + + + + + 21q22.13 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79243 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79243 + Pyruvate dehydrogenase E1-alpha deficiency + + Clinical subtype + + + Subtype of disorder + + + + 10679936[PMID]_15384102[PMID]_20002461[PMID] + + pyruvate dehydrogenase E1 subunit alpha 1 + PDHA1 + + pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial + E1alpha + + + gene with protein product + + + + Ensembl + ENSG00000131828 + + + Genatlas + PDHA1 + + + HGNC + 8806 + + + OMIM + 300502 + + + Reactome + P08559 + + + SwissProt + P08559 + + + ClinVar + PDHA1 + + + + + Xp22.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 30304514[PMID] + + lon peptidase 1, mitochondrial + LONP1 + + LonHS + PIM1 + hLON + Mitochondrial ATP-dependent protease Lon + + + gene with protein product + + + + IUPHAR + 3180 + + + ClinVar + LONP1 + + + Genatlas + LONP1 + + + HGNC + 9479 + + + OMIM + 605490 + + + SwissProt + P36776 + + + Ensembl + ENSG00000196365 + + + + + 19p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79299 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79299 + Congenital glucokinase-related hyperinsulinism + + Disease + + + Disorder + + + + 9435328[PMID]_25733449[PMID] + + glucokinase + GCK + + HK4 + hexokinase 4 + HKIV + + + gene with protein product + + + + ClinVar + GCK + + + Ensembl + ENSG00000106633 + + + Genatlas + GCK + + + HGNC + 4195 + + + OMIM + 138079 + + + Reactome + P35557 + + + SwissProt + P35557 + + + IUPHAR + 2798 + + + + + 7p13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79301 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79301 + Congenital bile acid synthesis defect type 1 + + Disease + + + Disorder + + + + 12679481[PMID] + + hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 + HSD3B7 + + C(27)-3BETA-HSD + SDR11E3 + short chain dehydrogenase/reductase family 11E, member 3 + + + gene with protein product + + + + Ensembl + ENSG00000099377 + + + Genatlas + HSD3B7 + + + HGNC + 18324 + + + OMIM + 607764 + + + Reactome + Q9H2F3 + + + SwissProt + Q9H2F3 + + + ClinVar + HSD3B7 + + + + + 16p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79293 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79293 + Familial LCAT deficiency + + Clinical subtype + + + Subtype of disorder + + + + 9162740[PMID] + + lecithin-cholesterol acyltransferase + LCAT + + phosphatidylcholine--sterol O-acyltransferase + + + gene with protein product + + + + Ensembl + ENSG00000213398 + + + Genatlas + LCAT + + + HGNC + 6522 + + + OMIM + 606967 + + + Reactome + P04180 + + + SwissProt + P04180 + + + ClinVar + LCAT + + + + + 16q22.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79292 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79292 + Fish-eye disease + + Clinical subtype + + + Subtype of disorder + + + + 9162740[PMID] + + lecithin-cholesterol acyltransferase + LCAT + + phosphatidylcholine--sterol O-acyltransferase + + + gene with protein product + + + + Ensembl + ENSG00000213398 + + + Genatlas + LCAT + + + HGNC + 6522 + + + OMIM + 606967 + + + Reactome + P04180 + + + SwissProt + P04180 + + + ClinVar + LCAT + + + + + 16q22.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79278 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79278 + Autosomal erythropoietic protoporphyria + + Disease + + + Disorder + + + + 23016163[PMID] + + ferrochelatase + FECH + + protoporphyrin ferrochelatase + protoporphyria + + + gene with protein product + + + + ClinVar + FECH + + + Ensembl + ENSG00000066926 + + + Genatlas + FECH + + + HGNC + 3647 + + + OMIM + 612386 + + + Reactome + P22830 + + + SwissProt + P22830 + + + + + 18q21.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79279 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79279 + Alpha-N-acetylgalactosaminidase deficiency type 1 + + Clinical subtype + + + Subtype of disorder + + + + + + alpha-N-acetylgalactosaminidase + NAGA + + D22S674 + alpha-galactosidase B + + + gene with protein product + + + + Ensembl + ENSG00000198951 + + + Genatlas + NAGA + + + HGNC + 7631 + + + OMIM + 104170 + + + SwissProt + P17050 + + + ClinVar + NAGA + + + + + 22q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79280 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79280 + Alpha-N-acetylgalactosaminidase deficiency type 2 + + Clinical subtype + + + Subtype of disorder + + + + + + alpha-N-acetylgalactosaminidase + NAGA + + D22S674 + alpha-galactosidase B + + + gene with protein product + + + + Ensembl + ENSG00000198951 + + + Genatlas + NAGA + + + HGNC + 7631 + + + OMIM + 104170 + + + SwissProt + P17050 + + + ClinVar + NAGA + + + + + 22q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79281 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79281 + Alpha-N-acetylgalactosaminidase deficiency type 3 + + Clinical subtype + + + Subtype of disorder + + + + + + alpha-N-acetylgalactosaminidase + NAGA + + D22S674 + alpha-galactosidase B + + + gene with protein product + + + + Ensembl + ENSG00000198951 + + + Genatlas + NAGA + + + HGNC + 7631 + + + OMIM + 104170 + + + SwissProt + P17050 + + + ClinVar + NAGA + + + + + 22q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282 + Methylmalonic acidemia with homocystinuria, type cblC + + Clinical subtype + + + Subtype of disorder + + + + 16311595[PMID]_21497120[PMID] + + metabolism of cobalamin associated C + MMACHC + + DKFZP564I122 + cblC + + + gene with protein product + + + + Ensembl + ENSG00000132763 + + + Genatlas + MMACHC + + + HGNC + 24525 + + + OMIM + 609831 + + + Reactome + Q9Y4U1 + + + SwissProt + Q9Y4U1 + + + ClinVar + MMACHC + + + + + 1p34.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79283 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79283 + Methylmalonic acidemia with homocystinuria, type cblD + + Clinical subtype + + + Subtype of disorder + + + + 20301409[PMID]_20301503[PMID] + + metabolism of cobalamin associated D + MMADHC + + CL25022 + cblD + + + gene with protein product + + + + Ensembl + ENSG00000168288 + + + Genatlas + MMADHC + + + HGNC + 25221 + + + OMIM + 611935 + + + Reactome + Q9H3L0 + + + SwissProt + Q9H3L0 + + + ClinVar + MMADHC + + + + + 2q23.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79284 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79284 + Methylmalonic acidemia with homocystinuria type cblF + + Clinical subtype + + + Subtype of disorder + + + + 20301503[PMID] + + LMBR1 domain containing 1 + LMBRD1 + + FLJ11240 + bA810I22.1 + cblF + + + gene with protein product + + + + Ensembl + ENSG00000168216 + + + Genatlas + LMBRD1 + + + HGNC + 23038 + + + OMIM + 612625 + + + Reactome + Q9NUN5 + + + SwissProt + Q9NUN5 + + + ClinVar + LMBRD1 + + + + + 6q13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79270 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270 + Sanfilippo syndrome type B + + Etiological subtype + + + Subtype of disorder + + + + 16151907[PMID] + + N-acetyl-alpha-glucosaminidase + NAGLU + + NAG + Sanfilippo disease IIIB + + + gene with protein product + + + + Ensembl + ENSG00000108784 + + + Genatlas + NAGLU + + + HGNC + 7632 + + + OMIM + 609701 + + + Reactome + P54802 + + + SwissProt + P54802 + + + ClinVar + NAGLU + + + + + 17q21.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79271 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271 + Sanfilippo syndrome type C + + Etiological subtype + + + Subtype of disorder + + + + 17033958[PMID] + + heparan-alpha-glucosaminide N-acetyltransferase + HGSNAT + + FLJ32731 + HGNAT + + + gene with protein product + + + + ClinVar + HGSNAT + + + SwissProt + Q68CP4 + + + Ensembl + ENSG00000165102 + + + Genatlas + HGSNAT + + + HGNC + 26527 + + + OMIM + 610453 + + + Reactome + Q68CP4 + + + + + 8p11.21-p11.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79272 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272 + Sanfilippo syndrome type D + + Etiological subtype + + + Subtype of disorder + + + + 12573255[PMID]_17998446[PMID] + + glucosamine (N-acetyl)-6-sulfatase + GNS + + N-acetylglucosamine-6-sulfatase + Sanfilippo disease IIID + + + gene with protein product + + + + ClinVar + GNS + + + Ensembl + ENSG00000135677 + + + Genatlas + GNS + + + HGNC + 4422 + + + OMIM + 607664 + + + Reactome + P15586 + + + SwissProt + P15586 + + + + + 12q14.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79273 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79273 + Hereditary coproporphyria + + Disease + + + Disorder + + + + 23236641[PMID] + + coproporphyrinogen oxidase + CPOX + + CPX + HCP + coproporphyria + homozygous coproporphyria + + + gene with protein product + + + + Ensembl + ENSG00000080819 + + + Genatlas + CPOX + + + HGNC + 2321 + + + OMIM + 612732 + + + Reactome + P36551 + + + SwissProt + P36551 + + + ClinVar + CPOX + + + + + 3q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79276 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79276 + Acute intermittent porphyria + + Disease + + + Disorder + + + + 20301372[PMID] + + hydroxymethylbilane synthase + HMBS + + + + gene with protein product + + + + ClinVar + HMBS + + + SwissProt + P08397 + + + Ensembl + ENSG00000256269 + + + Genatlas + HMBS + + + HGNC + 4982 + + + OMIM + 609806 + + + Reactome + P08397 + + + + + 11q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79277 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79277 + Congenital erythropoietic porphyria + + Disease + + + Disorder + + + + 24027798[PMID] + + uroporphyrinogen III synthase + UROS + + congenital erythropoietic porphyria + + + gene with protein product + + + + Ensembl + ENSG00000188690 + + + Genatlas + UROS + + + HGNC + 12592 + + + OMIM + 606938 + + + Reactome + P10746 + + + SwissProt + P10746 + + + ClinVar + UROS + + + + + 10q26.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 24027798[PMID]_17148589[PMID] + + GATA binding protein 1 + GATA1 + + ERYF1 + GATA-1 + NF-E1 + NFE1 + nuclear factor, erythroid 1 + + + gene with protein product + + + + ClinVar + GATA1 + + + Ensembl + ENSG00000102145 + + + Genatlas + GATA1 + + + HGNC + 4170 + + + OMIM + 305371 + + + Reactome + P15976 + + + SwissProt + P15976 + + + + + Xp11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79333 + COG7-CDG + + Disease + + + Disorder + + + + 20301507[PMID] + + component of oligomeric golgi complex 7 + COG7 + + + + gene with protein product + + + + ClinVar + COG7 + + + Reactome + P83436 + + + SwissProt + P83436 + + + Ensembl + ENSG00000168434 + + + Genatlas + COG7 + + + HGNC + 18622 + + + OMIM + 606978 + + + + + 16p12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79332 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79332 + B4GALT1-CDG + + Disease + + + Disorder + + + + 20301507[PMID] + + beta-1,4-galactosyltransferase 1 + B4GALT1 + + N-acetyllactosamine synthase + Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase + lactose synthase A + beta4Gal-T1 + + + gene with protein product + + + + ClinVar + B4GALT1 + + + Reactome + P15291 + + + SwissProt + P15291 + + + Ensembl + ENSG00000086062 + + + Genatlas + B4GALT1 + + + HGNC + 924 + + + OMIM + 137060 + + + + + 9p21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79330 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79330 + MOGS-CDG + + Disease + + + Disorder + + + + 20301507[PMID] + + mannosyl-oligosaccharide glucosidase + MOGS + + CWH41 + DER7 + GCS1 + glucosidase I + processing A-glucosidase I + + + gene with protein product + + + + ClinVar + MOGS + + + Ensembl + ENSG00000115275 + + + Genatlas + MOGS + + + HGNC + 24862 + + + OMIM + 601336 + + + Reactome + Q13724 + + + SwissProt + Q13724 + + + + + 2p13.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79329 + MGAT2-CDG + + Disease + + + Disorder + + + + 20301507[PMID] + + alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase + MGAT2 + + GNT-II + + + gene with protein product + + + + Genatlas + MGAT2 + + + HGNC + 7045 + + + OMIM + 602616 + + + Reactome + Q10469 + + + SwissProt + Q10469 + + + Ensembl + ENSG00000168282 + + + ClinVar + MGAT2 + + + + + 14q21.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79328 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79328 + ALG9-CDG + + Disease + + + Disorder + + + + 20301507[PMID] + + ALG9 alpha-1,2-mannosyltransferase + ALG9 + + dol-P-Man dependent alpha-1,2-mannosyltransferase + dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase + dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase + + + gene with protein product + + + + Ensembl + ENSG00000086848 + + + Genatlas + ALG9 + + + HGNC + 15672 + + + OMIM + 606941 + + + Reactome + Q9H6U8 + + + SwissProt + Q9H6U8 + + + ClinVar + ALG9 + + + + + 11q23.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79327 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79327 + ALG1-CDG + + Disease + + + Disorder + + + + 20301507[PMID] + + ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase + ALG1 + + HMT-1 + Mat-1 + CDG1K + HMAT1 + + + gene with protein product + + + + Genatlas + ALG1 + + + HGNC + 18294 + + + OMIM + 605907 + + + Reactome + Q9BT22 + + + SwissProt + Q9BT22 + + + Ensembl + ENSG00000033011 + + + ClinVar + ALG1 + + + + 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+ Disorder + + + + 20301507[PMID] + + mannose-P-dolichol utilization defect 1 + MPDU1 + + SLC66A5 + CDGIf + Lec35 + PQLC5 + SL15 + + + gene with protein product + + + + ClinVar + MPDU1 + + + IUPHAR + 3164 + + + Ensembl + ENSG00000129255 + + + Genatlas + MPDU1 + + + HGNC + 7207 + + + OMIM + 604041 + + + Reactome + O75352 + + + SwissProt + O75352 + + + + + 17p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79322 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79322 + DPM1-CDG + + Disease + + + Disorder + + + + 20301507[PMID] + + dolichyl-phosphate mannosyltransferase subunit 1, catalytic + DPM1 + + CDGIE + DPM synthase complex, catalytic subunit + MPDS + + + gene with protein product + + + + ClinVar + DPM1 + + + Ensembl + ENSG00000000419 + + + Genatlas + DPM1 + + + HGNC + 3005 + + + OMIM + 603503 + + + Reactome + O60762 + + + SwissProt + O60762 + + + + + 20q13.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79321 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79321 + ALG3-CDG + + Disease + + + Disorder + + + + 20301507[PMID] + + ALG3 alpha-1,3- mannosyltransferase + ALG3 + + CDGS4 + D16Ertd36e + NOT56L + Not56 + carbohydrate deficient glycoprotein syndrome type IV + dol-P-Man dependent alpha-1,3- mannosyltransferase + dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase + + + gene with protein product + + + + Reactome + Q92685 + + + SwissProt + Q92685 + + + Ensembl + ENSG00000214160 + + + Genatlas + ALG3 + + + HGNC + 23056 + + + OMIM + 608750 + + + ClinVar + ALG3 + + + + + 3q27.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79320 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79320 + ALG6-CDG + + Disease + + + Disorder + + + + 20301507[PMID] + + ALG6 alpha-1,3-glucosyltransferase + ALG6 + + dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase + + + gene with protein product + + + + Ensembl + ENSG00000088035 + + + Genatlas + ALG6 + + + HGNC + 23157 + + + OMIM + 604566 + + + Reactome + Q9Y672 + + + SwissProt + Q9Y672 + + + ClinVar + ALG6 + + + + + 1p31.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79319 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79319 + MPI-CDG + + Disease + + + Disorder + + + + 20301507[PMID] + + mannose phosphate isomerase + MPI + + mannose-6-phosphate isomerase + + + gene with protein product + + + + ClinVar + MPI + + + Ensembl + ENSG00000178802 + + + Genatlas + MPI + + + HGNC + 7216 + + + OMIM + 154550 + + + Reactome + P34949 + + + SwissProt + P34949 + + + + + 15q24.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79318 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79318 + PMM2-CDG + + Disease + + + Disorder + + + + 20301289[PMID]_20301507[PMID] + + phosphomannomutase 2 + PMM2 + + CDG1a + CDGS + PMI + PMI1 + mannose-6-phosphate isomerase + phosphomannose isomerase 1 + Congenital disorder of glycosylation, type Ia + + + gene with protein product + + + + Ensembl + ENSG00000140650 + + + Genatlas + PMM2 + + + HGNC + 9115 + + + OMIM + 601785 + + + Reactome + O15305 + + + SwissProt + O15305 + + + ClinVar + PMM2 + + + + + 16p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79314 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79314 + L-2-hydroxyglutaric aciduria + + Disease + + + Disorder + + + + 20052767[PMID] + + L-2-hydroxyglutarate dehydrogenase + L2HGDH + + 2-hydroxyglutarate dehydrogenase + FLJ12618 + + + gene with protein product + + + + ClinVar + L2HGDH + + + Ensembl + ENSG00000087299 + + + Genatlas + L2HGDH + + + HGNC + 20499 + + + OMIM + 609584 + + + Reactome + Q9H9P8 + + + SwissProt + Q9H9P8 + + + + + 14q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79315 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79315 + D-2-hydroxyglutaric aciduria + + Disease + + + Disorder + + + + 20020533[PMID] + + D-2-hydroxyglutarate dehydrogenase + D2HGDH + + D2HGD + FLJ42195 + MGC25181 + + + gene with protein product + + + + Ensembl + ENSG00000180902 + + + Genatlas + D2HGDH + + + HGNC + 28358 + + + OMIM + 609186 + + + Reactome + Q8N465 + + + SwissProt + Q8N465 + + + ClinVar + D2HGDH + + + + + 2q37.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20847235[PMID] + + isocitrate dehydrogenase (NADP(+)) 2 + IDH2 + + IDH-2 + + + gene with protein product + + + + Ensembl + ENSG00000182054 + + + Genatlas + IDH2 + + + HGNC + 5383 + + + OMIM + 147650 + + + Reactome + P48735 + + + SwissProt + P48735 + + + IUPHAR + 2885 + + + ClinVar + IDH2 + + + + + 15q26.1 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 79312 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79312 + Vitamin B12-unresponsive methylmalonic acidemia type mut- + + Clinical subtype + + + Subtype of disorder + + + + + + methylmalonyl-CoA mutase + MMUT + + Methylmalonyl-CoA mutase, mitochondrial + MCM + + + gene with protein product + + + + Ensembl + ENSG00000146085 + + + Genatlas + MUT + + + HGNC + 7526 + + + OMIM + 609058 + + + Reactome + P22033 + + + ClinVar + MUT + + + SwissProt + P22033 + + + + + 6p12.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79310 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79310 + Vitamin B12-responsive methylmalonic acidemia type cblA + + Clinical subtype + + + Subtype of disorder + + + + + + metabolism of cobalamin associated A + MMAA + + cblA + + + gene with protein product + + + + HGNC + 18871 + + + OMIM + 607481 + + + Reactome + Q8IVH4 + + + SwissProt + Q8IVH4 + + + Ensembl + ENSG00000151611 + + + Genatlas + MMAA + + + ClinVar + MMAA + + + + + 4q31.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79311 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79311 + Vitamin B12-responsive methylmalonic acidemia type cblB + + Clinical subtype + + + Subtype of disorder + + + + + + metabolism of cobalamin associated B + MMAB + + ATP:cob(I)alamin adenosyltransferase + CFAP23 + cblB + cilia and flagella associated protein 23 + + + gene with protein product + + + + Ensembl + ENSG00000139428 + + + Genatlas + MMAB + + + HGNC + 19331 + + + OMIM + 607568 + + + Reactome + Q96EY8 + + + SwissProt + Q96EY8 + + + ClinVar + MMAB + + + + + 12q24.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79306 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79306 + Progressive familial intrahepatic cholestasis type 1 + + Clinical subtype + + + Subtype of disorder + + + + 27532546[PMID] + + myosin VB + MYO5B + + KIAA1119 + + + gene with protein product + + + + Ensembl + ENSG00000167306 + + + Genatlas + MYO5B + + + HGNC + 7603 + + + OMIM + 606540 + + + Reactome + Q9ULV0 + + + SwissProt + Q9ULV0 + + + ClinVar + MYO5B + + + + + 18q21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301474[PMID] + + ATPase phospholipid transporting 8B1 + ATP8B1 + + ATPIC + PFIC + phospholipid-transporting ATPase IC + + + gene with protein product + + + + IUPHAR + 856 + + + Ensembl + ENSG00000081923 + + + Genatlas + ATP8B1 + + + HGNC + 3706 + + + OMIM + 602397 + + + Reactome + O43520 + + + SwissProt + O43520 + + + ClinVar + ATP8B1 + + + + + 18q21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79304 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79304 + Progressive familial intrahepatic cholestasis type 2 + + Clinical subtype + + + Subtype of disorder + + + + 9806540[PMID]_15791618[PMID] + + ATP binding cassette subfamily B member 11 + ABCB11 + + ABC member 16, MDR/TAP subfamily + ABC16 + PFIC-2 + PGY4 + SPGP + + + gene with protein product + + + + IUPHAR + 778 + + + Ensembl + ENSG00000073734 + + + Genatlas + ABCB11 + + + HGNC + 42 + + + OMIM + 603201 + + + Reactome + O95342 + + + SwissProt + O95342 + + + ClinVar + ABCB11 + + + + + 2q31.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79305 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79305 + Progressive familial intrahepatic cholestasis type 3 + + Clinical subtype + + + Subtype of disorder + + + + 17726488[PMID]_21119540[PMID] + + ATP binding cassette subfamily B member 4 + ABCB4 + + GBD1 + MDR2 + PFIC-3 + + + gene with protein product + + + + Ensembl + ENSG00000005471 + + + Genatlas + ABCB4 + + + HGNC + 45 + + + OMIM + 171060 + + + IUPHAR + 771 + + + ClinVar + ABCB4 + + + Reactome + P21439 + + + SwissProt + P21439 + + + + + 7q21.12 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79302 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79302 + Congenital bile acid synthesis defect type 3 + + Disease + + + Disorder + + + + 9802883[PMID] + + cytochrome P450 family 7 subfamily B member 1 + CYP7B1 + + + + gene with protein product + + + + ClinVar + CYP7B1 + + + HGNC + 2652 + + + OMIM + 603711 + + + Reactome + O75881 + + + SwissProt + O75881 + + + IUPHAR + 1355 + + + Ensembl + ENSG00000172817 + + + Genatlas + CYP7B1 + + + + + 8q12.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79303 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79303 + Congenital bile acid synthesis defect type 2 + + Disease + + + Disorder + + + + 12970144[PMID] + + aldo-keto reductase family 1 member D1 + AKR1D1 + + delta 4-3-ketosteroid-5-beta-reductase + + + gene with protein product + + + + Ensembl + ENSG00000122787 + + + Genatlas + AKR1D1 + + + HGNC + 388 + + + OMIM + 604741 + + + Reactome + P51857 + + + SwissProt + P51857 + + + ClinVar + AKR1D1 + + + + + 7q33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79351 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79351 + 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form + + Etiological subtype + + + Subtype of disorder + + + + 11055895[PMID] + + phosphoglycerate dehydrogenase + PHGDH + + PDG + PGDH + SERA + D-3-phosphoglycerate dehydrogenase + + + gene with protein product + + + + ClinVar + PHGDH + + + Ensembl + ENSG00000092621 + + + Genatlas + PHGDH + + + HGNC + 8923 + + + OMIM + 606879 + + + Reactome + O43175 + + + SwissProt + O43175 + + + + + 1p12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79350 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79350 + 3-phosphoserine phosphatase deficiency, infantile/juvenile form + + Etiological subtype + + + Subtype of disorder + + + + 14673469[PMID] + + phosphoserine phosphatase + PSPH + + + + gene with protein product + + + + ClinVar + PSPH + + + Ensembl + ENSG00000146733 + + + Genatlas + PSPH + + + HGNC + 9577 + + + OMIM + 172480 + + + Reactome + P78330 + + + SwissProt + P78330 + + + + + 7p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79345 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79345 + Brachytelephalangic chondrodysplasia punctata + + Malformation syndrome + + + Disorder + + + + 20301713[PMID] + + arylsulfatase L + ARSL + + chondrodysplasia punctata 1 + + + gene with protein product + + + + ClinVar + ARSE + + + Ensembl + ENSG00000157399 + + + Genatlas + ARSE + + + HGNC + 719 + + + OMIM + 300180 + + + Reactome + P51690 + + + SwissProt + P51690 + + + + + Xp22.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 85191 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85191 + Singleton-Merten dysplasia + + Malformation syndrome + + + Disorder + + + + 25620204[PMID] + + interferon induced with helicase C domain 1 + IFIH1 + + Hlcd + IDDM19 + MDA-5 + MDA5 + helicard + melanoma differentiation-associated gene 5 + + + gene with protein product + + + + IUPHAR + 2921 + + + Ensembl + ENSG00000115267 + + + Genatlas + IFIH1 + + + HGNC + 18873 + + + OMIM + 606951 + + + Reactome + Q9BYX4 + + + SwissProt + Q9BYX4 + + + ClinVar + IFIH1 + + + + + 2q24.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 25620203[PMID] + + RNA sensor RIG-I + RIGI + + DKFZp434J1111 + FLJ13599 + RIG-I + RNA helicase RIG-I + retinoic acid inducible gene I + RIG-1 + RIG1 + Antiviral innate immune response receptor RIG-I + + + gene with protein product + + + + Ensembl + ENSG00000107201 + + + Genatlas + DDX58 + + + HGNC + 19102 + + + OMIM + 609631 + + + Reactome + O95786 + + + SwissProt + O95786 + + + ClinVar + DDX58 + + + IUPHAR + 2920 + + + + + 9p21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 85193 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85193 + Idiopathic juvenile osteoporosis + + Malformation syndrome + + + Disorder + + + + 22789636[PMID] + + Wnt family member 3A + WNT3A + + + + gene with protein product + + + + ClinVar + WNT3A + + + Ensembl + ENSG00000154342 + + + Genatlas + WNT3A + + + HGNC + 15983 + + + OMIM + 606359 + + + Reactome + P56704 + + + SwissProt + P56704 + + + + + 1q42.13 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 22789636[PMID] + + dickkopf Wnt signaling pathway inhibitor 1 + DKK1 + + DKK-1 + SK + + + gene with protein product + + + + ClinVar + DKK1 + + + Ensembl + ENSG00000107984 + + + Genatlas + DKK1 + + + HGNC + 2891 + + + OMIM + 605189 + + + Reactome + O94907 + + + SwissProt + O94907 + + + + + 10q21.1 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 23499309[PMID] + + Wnt family member 1 + WNT1 + + + + gene with protein product + + + + ClinVar + WNT1 + + + Ensembl + ENSG00000125084 + + + Genatlas + WNT1 + + + HGNC + 12774 + + + OMIM + 164820 + + + Reactome + P04628 + + + SwissProt + P04628 + + + + + 12q13.12 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 85195 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85195 + Familial expansile osteolysis + + Disease + + + Disorder + + + + 10615125[PMID] + + TNF receptor superfamily member 11a + TNFRSF11A + + CD265 + FEO + RANK + osteoclast differentiation factor receptor + ODFR + receptor activator of nuclear factor kappa B + TRANCE-R + TRANCE receptor + familial expansile osteolysis + + + gene with protein product + + + + IUPHAR + 1881 + + + Ensembl + ENSG00000141655 + + + Genatlas + TNFRSF11A + + + HGNC + 11908 + + + OMIM + 603499 + + + Reactome + Q9Y6Q6 + + + SwissProt + Q9Y6Q6 + + + ClinVar + TNFRSF11A + + + + + 18q21.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 85194 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85194 + Spondylo-ocular syndrome + + Malformation syndrome + + + Disorder + + + + 26027496[PMID] + + xylosyltransferase 2 + XYLT2 + + PXYLT2 + XT-II + protein xylosyltransferase 2 + + + gene with protein product + + + + Ensembl + ENSG00000015532 + + + Genatlas + XYLT2 + + + HGNC + 15517 + + + OMIM + 608125 + + + SwissProt + Q9H1B5 + + + Reactome + Q9H1B5 + + + ClinVar + XYLT2 + + + + + 17q21.33 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 85199 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85199 + Craniosynostosis-anal anomalies-porokeratosis syndrome + + Malformation syndrome + + + Disorder + + + + 34085356[PMID] + + RNA, U12 small nuclear + RNU12 + + RNA, U12 small nuclear 1 + RNU12-1 + + + Non-coding RNA + + + + HGNC + 19380 + + + Ensembl + ENSG00000276027 + + + OMIM + 620204 + + + + + 22q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 85198 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85198 + Dysspondyloenchondromatosis + + Malformation syndrome + + + Disorder + + + + 22570642[PMID]_26250472[PMID] + + collagen type II alpha 1 chain + COL2A1 + + STL1 + + + gene with protein product + + + + ClinVar + COL2A1 + + + Ensembl + ENSG00000139219 + + + Genatlas + COL2A1 + + + HGNC + 2200 + + + OMIM + 120140 + + + Reactome + P02458 + + + SwissProt + P02458 + + + + + 12q13.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 85201 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85201 + Genitopatellar syndrome + + Malformation syndrome + + + Disorder + + + + 23236640[PMID]_22265017[PMID]_22265014[PMID] + + lysine acetyltransferase 6B + KAT6B + + qkf + querkopf + MOZ-related factor + MOZ2 + Morf + ZC2HC6B + + + gene with protein product + + + + ClinVar + KAT6B + + + OMIM + 605880 + + + Reactome + Q8WYB5 + + + SwissProt + Q8WYB5 + + + Ensembl + ENSG00000156650 + + + Genatlas + KAT6B + + + HGNC + 17582 + + + IUPHAR + 2666 + + + + + 10q22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 85202 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85202 + Keutel syndrome + + Malformation syndrome + + + Disorder + + + + 9916809[PMID]_15810001[PMID] + + matrix Gla protein + MGP + + + + gene with protein product + + + + Ensembl + ENSG00000111341 + + + Genatlas + MGP + + + HGNC + 7060 + + + OMIM + 154870 + + + SwissProt + P08493 + + + ClinVar + MGP + + + + + 12p12.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 85212 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85212 + Fetal Gaucher disease + + Clinical subtype + + + Subtype of disorder + + + + 20946052[PMID]_20301446[PMID] + + glucosylceramidase beta 1 + GBA1 + + GBA1 + glucocerebrosidase + + + gene with protein product + + + + ClinVar + GBA + + + Ensembl + ENSG00000177628 + + + Genatlas + GBA + + + HGNC + 4177 + + + OMIM + 606463 + + + Reactome + P04062 + + + SwissProt + P04062 + + + IUPHAR + 2978 + + + + + 1q22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 85277 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85277 + X-linked intellectual disability, Cantagrel type + + Malformation syndrome + + + Disorder + + + + 23615299[PMID] + + neurite extension and migration factor + NEXMIF + + KIDLIA + MRX98 + XLMR-related protein, neurite extension + XPN + + + gene with protein product + + + + ClinVar + KIAA2022 + + + Ensembl + ENSG00000050030 + + + Genatlas + KIAA2022 + + + HGNC + 29433 + + + OMIM + 300524 + + + SwissProt + Q5QGS0 + + + + + Xq13.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 85278 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85278 + Christianson syndrome + + Malformation syndrome + + + Disorder + + + + 18342287[PMID] + + solute carrier family 9 member A6 + SLC9A6 + + KIAA0267 + NHE6 + NHE-6 + Sodium/hydrogen exchanger 6 + + + gene with protein product + + + + ClinVar + SLC9A6 + + + Ensembl + ENSG00000198689 + + + Genatlas + SLC9A6 + + + HGNC + 11079 + + + OMIM + 300231 + + + Reactome + Q92581 + + + SwissProt + Q92581 + + + IUPHAR + 953 + + + + + Xq26.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 85279 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85279 + KDM5C-related syndromic X-linked intellectual disability + + Malformation syndrome + + + Disorder + + + + 15586325[PMID] + + lysine demethylase 5C + KDM5C + + DXS1272E + XE169 + + + gene with protein product + + + + Ensembl + ENSG00000126012 + + + Genatlas + KDM5C + + + HGNC + 11114 + + + IUPHAR + 2682 + + + OMIM + 314690 + + + Reactome + P41229 + + + SwissProt + P41229 + + + ClinVar + KDM5C + + + + + Xp11.22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + 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zinc finger protein 422 + JHDM1F + KIAA1111 + ZNF422 + jumonji C domain-containing histone demethylase 1F + lysine demethylase 7B + histone lysine demethylase PHF8 + + + gene with protein product + + + + Ensembl + ENSG00000172943 + + + Genatlas + PHF8 + + + HGNC + 20672 + + + IUPHAR + 2698 + + + OMIM + 300560 + + + Reactome + Q9UPP1 + + + SwissProt + Q9UPP1 + + + ClinVar + PHF8 + + + + + Xp11.22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 85288 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85288 + X-linked intellectual disability, Stocco Dos Santos type + + Malformation syndrome + + + Disorder + + + + 16249884[PMID] + + shroom family member 4 + SHROOM4 + + KIAA1202 + Protein Shroom4 + Shrm4 + Second homolog of apical protein + SHAP + + + gene with protein product + + + + ClinVar + SHROOM4 + + + Ensembl + ENSG00000158352 + + + Genatlas + SHROOM4 + + + HGNC + 29215 + + + OMIM + 300579 + + + SwissProt + Q9ULL8 + + + + + Xp11.22 + 1 + + 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member 1 + type 10 17b-HSD + type 10 17beta-hydroxysteroid dehydrogenase + + + gene with protein product + + + + Ensembl + ENSG00000072506 + + + Genatlas + HSD17B10 + + + HGNC + 4800 + + + OMIM + 300256 + + + Reactome + Q99714 + + + SwissProt + Q99714 + + + ClinVar + HSD17B10 + + + + + Xp11.22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 85294 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85294 + X-linked epilepsy-learning disabilities-behavior disorders syndrome + + Disease + + + Disorder + + + + 14985377[PMID] + + synapsin I + SYN1 + + Synapsin-1 + + + gene with protein product + + + + Ensembl + ENSG00000008056 + + + Genatlas + SYN1 + + + HGNC + 11494 + + + OMIM + 313440 + + + Reactome + P17600 + + + SwissProt + P17600 + + + ClinVar + SYN1 + + + + + Xp11.3-p11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 85329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85329 + X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome + + Malformation syndrome + + + Disorder + + + + 17186471[PMID]_12599187[PMID] + + adaptor related protein complex 1 subunit sigma 2 + AP1S2 + + SIGMA1B + + + gene with protein product + + + + Ensembl + ENSG00000182287 + + + Genatlas + AP1S2 + + + HGNC + 560 + + + OMIM + 300629 + + + Reactome + P56377 + + + SwissProt + P56377 + + + ClinVar + AP1S2 + + + + + Xp22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 85335 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85335 + Fried syndrome + + Malformation syndrome + + + Disorder + + + + 17617514[PMID] + + adaptor related protein complex 1 subunit sigma 2 + AP1S2 + + SIGMA1B + + + gene with protein product + + + + Ensembl + ENSG00000182287 + + + Genatlas + AP1S2 + + + HGNC + 560 + + + OMIM + 300629 + + + Reactome + P56377 + + + SwissProt + P56377 + + + ClinVar + AP1S2 + + + + + Xp22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 85410 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85410 + Oligoarticular juvenile idiopathic arthritis + + Disease + + + Disorder + + + + 23603761[PMID] + + protein tyrosine phosphatase non-receptor type 22 + PTPN22 + + Lyp + Lyp1 + Lyp2 + + + gene with protein product + + + + Ensembl + ENSG00000134242 + + + Genatlas + PTPN22 + + + HGNC + 9652 + + + OMIM + 600716 + + + SwissProt + Q9Y2R2 + + + IUPHAR + 3084 + + + Reactome + Q9Y2R2 + + + ClinVar + PTPN22 + + + + + 1p13.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 23603761[PMID] + + signal transducer and activator of transcription 4 + STAT4 + + + + gene with protein product + + + + Ensembl + ENSG00000138378 + + + Genatlas + STAT4 + + + HGNC + 11365 + + + OMIM + 600558 + + + SwissProt + Q14765 + + + Reactome + Q14765 + + + ClinVar + STAT4 + + + + + 2q32.2-q32.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 22294642[PMID] + + interleukin 2 receptor subunit alpha + IL2RA + + CD25 + + + gene with protein product + + + + Ensembl + ENSG00000134460 + + + Genatlas + IL2RA + + + HGNC + 6008 + + + OMIM + 147730 + + + Reactome + P01589 + + + SwissProt + P01589 + + + IUPHAR + 1695 + + + ClinVar + IL2RA + + + + + 10p15.1 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 22294642[PMID] + + CD247 molecule + CD247 + + T-cell surface glycoprotein CD3 zeta chain + CD3H + CD3Q + TCRZ + CD3-ZETA + CD3ZETA + + + gene with protein product + + + + IUPHAR + 3142 + + + Ensembl + ENSG00000198821 + + + Genatlas + CD247 + + + HGNC + 1677 + + + OMIM + 186780 + + + Reactome + P20963 + + + SwissProt + P20963 + + + ClinVar + CD247 + + + + + 1q24.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 22294642[PMID] + + protein tyrosine phosphatase non-receptor type 2 + PTPN2 + + TC48 + TC45 + TC-PTP + TCELLPTP + TCPTP + + + gene with protein product + + + + ClinVar + PTPN2 + + + Ensembl 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85414 + Systemic-onset juvenile idiopathic arthritis + + Disease + + + Disorder + + + + 26598658[PMID] + + major histocompatibility complex, class II, DR beta 1 + HLA-DRB1 + + + + gene with protein product + + + + ClinVar + HLA-DRB1 + + + Ensembl + ENSG00000196126 + + + Genatlas + HLA-DRB1 + + + HGNC + 4948 + + + OMIM + 142857 + + + Reactome + P04229 + + + SwissProt + P01911 + + + + + 6p21.32 + 1 + + + + + Major susceptibility factor in + + + Not yet assessed + + + + + + macrophage migration inhibitory factor + MIF + + phenylpyruvate tautomerase + glycosylation-inhibiting factor + GIF + + + gene with protein product + + + + SwissProt + P14174 + + + Ensembl + ENSG00000240972 + + + Genatlas + MIF + + + HGNC + 7097 + + + OMIM + 153620 + + + Reactome + P14174 + + + ClinVar + MIF + + + + + 22q11.23 + 1 + + + + + Major susceptibility factor in + + + Not yet assessed + + + + + + interleukin 6 + IL6 + + BSF2 + HGF + HSF + IL-6 + interferon, beta 2 + + + gene with protein product + + + + ClinVar + IL6 + + + Ensembl + ENSG00000136244 + + + Genatlas + IL6 + + + HGNC + 6018 + + + OMIM + 147620 + + + Reactome + P05231 + + + SwissProt + P05231 + + + + + 7p15.3 + 1 + + + + + Major susceptibility factor in + + + Not yet assessed + + + + 25220867[PMID] + + laccase domain containing 1 + LACC1 + + isocyanic acid synthase + fatty acid metabolism–immunity nexus + FLJ38725 + FAMIN + fatty acid metabolism–immunity nexus + + + gene with protein product + + + + Ensembl + ENSG00000179630 + + + Genatlas + C13orf31 + + + HGNC + 26789 + + + OMIM + 613409 + + + SwissProt + Q8IV20 + + + ClinVar + C13orf31 + + + + + 13q14.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 85408 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85408 + Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis + + Disease + + + Disorder + + + + 23603761[PMID] + + protein tyrosine phosphatase non-receptor type 22 + PTPN22 + + Lyp + Lyp1 + Lyp2 + + + gene with protein product + + + + Ensembl + ENSG00000134242 + + + Genatlas + PTPN22 + + + HGNC + 9652 + + + OMIM + 600716 + + + SwissProt + Q9Y2R2 + + + IUPHAR + 3084 + + + Reactome + Q9Y2R2 + + + ClinVar + PTPN22 + + + + + 1p13.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 23603761[PMID] + + signal transducer and activator of transcription 4 + STAT4 + + + + gene with protein product + + + + Ensembl + ENSG00000138378 + + + Genatlas + STAT4 + + + HGNC + 11365 + + + OMIM + 600558 + + + SwissProt + Q14765 + + + Reactome + Q14765 + + + ClinVar + STAT4 + + + + + 2q32.2-q32.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 22294642[PMID] + + interleukin 2 receptor subunit alpha + IL2RA + + CD25 + + + gene with protein product + + + + Ensembl + ENSG00000134460 + + + Genatlas + IL2RA + + + HGNC + 6008 + + + OMIM + 147730 + + + Reactome + P01589 + + + SwissProt + P01589 + + + IUPHAR + 1695 + + 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p180 + + + gene with protein product + + + + ClinVar + POLA1 + + + HGNC + 9173 + + + OMIM + 312040 + + + Genatlas + POLA1 + + + SwissProt + P09884 + + + Reactome + P09884 + + + Ensembl + ENSG00000101868 + + + + + Xp22.11-p21.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 86788 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86788 + X-linked severe congenital neutropenia + + Disease + + + Disorder + + + + 11242115[PMID] + + WASP actin nucleation promoting factor + WAS + + WASP + WASPA + eczema-thrombocytopenia + + + gene with protein product + + + + ClinVar + WAS + + + Ensembl + ENSG00000015285 + + + Genatlas + WAS + + + HGNC + 12731 + + + OMIM + 300392 + + + Reactome + P42768 + + + SwissProt + P42768 + + + + + Xp11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 86309 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86309 + DPAGT1-CDG + + Disease + + + Disorder + + + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86819 + Atrichia with papular lesions + + Disease + + + Disorder + + + + 18709303[PMID] + + HR lysine demethylase and nuclear receptor corepressor + HR + + AU + + + gene with protein product + + + + Reactome + O43593 + + + Ensembl + ENSG00000168453 + + + Genatlas + HR + + + HGNC + 5172 + + + OMIM + 602302 + + + SwissProt + O43593 + + + ClinVar + HR + + + + + 8p21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 86841 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86841 + Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality + + Disease + + + Disorder + + + + 22571696[PMID] + + ribosomal protein S14 + RPS14 + + 40S ribosomal protein S14 + EMTB + S14 + emetine resistance + uS11 + + + gene with protein product + + + + ClinVar + RPS14 + + + Genatlas + RPS14 + + + HGNC + 10387 + + + OMIM + 130620 + + + Reactome + P62263 + + + SwissProt + P62263 + + + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86849 + Acute basophilic leukemia + + Disease + + + Disorder + + + + 21474671[PMID] + + MYB proto-oncogene, transcription factor + MYB + + c-myb + + + gene with protein product + + + + Ensembl + ENSG00000118513 + + + Genatlas + MYB + + + HGNC + 7545 + + + OMIM + 189990 + + + Reactome + P10242 + + + SwissProt + P10242 + + + ClinVar + MYB + + + + + 6q23.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 21474671[PMID] + + GATA binding protein 1 + GATA1 + + ERYF1 + GATA-1 + NF-E1 + NFE1 + nuclear factor, erythroid 1 + + + gene with protein product + + + + ClinVar + GATA1 + + + Ensembl + ENSG00000102145 + + + Genatlas + GATA1 + + + HGNC + 4170 + + + OMIM + 305371 + + + Reactome + P15976 + + + SwissProt + P15976 + + + + + Xp11.23 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 86845 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86845 + Acute myeloid leukaemia with 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86872 + T-cell large granular lymphocyte leukemia + + Disease + + + Disorder + + + + 29385279[PMID]_26980727[PMID] + + signal transducer and activator of transcription 3 + STAT3 + + APRF + + + gene with protein product + + + + Ensembl + ENSG00000168610 + + + Genatlas + STAT3 + + + HGNC + 11364 + + + OMIM + 102582 + + + Reactome + P40763 + + + SwissProt + P40763 + + + IUPHAR + 2994 + + + ClinVar + STAT3 + + + + + 17q21.2 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 86884 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86884 + Subcutaneous panniculitis-like T-cell lymphoma + + Disease + + + Disorder + + + + 30374066[PMID] + + hepatitis A virus cellular receptor 2 + HAVCR2 + + Tim-3 + TIM3 + FLJ14428 + TIMD3 + CD366 + T-cell immunoglobulin mucin family member 3 + + + gene with protein product + + + + Ensembl + ENSG00000135077 + + + SwissProt + Q8TDQ0 + + + Reactome + Q8TDQ0 + + + IUPHAR + 2940 + + + OMIM + 606652 + + + HGNC + 18437 + + + + + 5q33.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79503 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79503 + Ichthyosis hystrix of Curth-Macklin + + Disease + + + Disorder + + + + + + keratin 1 + KRT1 + + KRT1A + + + gene with protein product + + + + Ensembl + ENSG00000167768 + + + Genatlas + KRT1 + + + HGNC + 6412 + + + OMIM + 139350 + + + SwissProt + P04264 + + + ClinVar + KRT1 + + + Reactome + P04264 + + + + + 12q13.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79495 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79495 + X-linked congenital generalized hypertrichosis + + Clinical subtype + + + Subtype of disorder + + + + 21636067[PMID] + + SRY-box transcription factor 3 + SOX3 + + + + gene with protein product + + + + ClinVar + SOX3 + + + Ensembl + ENSG00000134595 + + + Genatlas + SOX3 + + + HGNC + 11199 + + + OMIM + 313430 + + + Reactome + P41225 + + + SwissProt + P41225 + + + + + Xq27.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79499 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79499 + Autosomal dominant deafness-onychodystrophy syndrome + + Malformation syndrome + + + Disorder + + + + 24913193[PMID] + + ATPase H+ transporting V1 subunit B2 + ATP6V1B2 + + HO57 + VATB + Vma2 + V-ATPase subunit B2 + + + gene with protein product + + + + Ensembl + ENSG00000147416 + + + Genatlas + ATP6V1B2 + + + HGNC + 854 + + + OMIM + 606939 + + + Reactome + P21281 + + + SwissProt + P21281 + + + IUPHAR + 812 + + + ClinVar + ATP6V1B2 + + + + + 8p21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79500 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79500 + DOORS syndrome + + Malformation syndrome + + + Disorder + + + + 32873933[PMID] + + ATPase H+ transporting V1 subunit B2 + ATP6V1B2 + + HO57 + VATB + Vma2 + V-ATPase subunit B2 + + + gene with protein product + + + + Ensembl + ENSG00000147416 + + + Genatlas + ATP6V1B2 + + + HGNC + 854 + + + OMIM + 606939 + + + Reactome + P21281 + + + SwissProt + P21281 + + + IUPHAR + 812 + + + ClinVar + ATP6V1B2 + + + + + 8p21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24291220[PMID] + + TBC1 domain family member 24 + TBC1D24 + + DFNA65 + KIAA1171 + TBC/LysM-associated domain containing 6 + TLDC6 + skywalker homolog (Drosophila) + deafness, autosomal dominant 65 + + + gene with protein product + + + + ClinVar + TBC1D24 + + + Reactome + Q9ULP9 + + + Ensembl + ENSG00000162065 + + + Genatlas + TBC1D24 + + + HGNC + 29203 + + + OMIM + 613577 + + + SwissProt + Q9ULP9 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 79501 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79501 + Punctate palmoplantar keratoderma type 1 + + Disease + + + Disorder + + + + 22972947[PMID] + + collagen type XIV alpha 1 chain + COL14A1 + + + + gene with protein product + + + + Ensembl + ENSG00000187955 + + + Genatlas + COL14A1 + + + HGNC + 2191 + + + OMIM + 120324 + + + Reactome + Q05707 + + + SwissProt + Q05707 + + + ClinVar + COL14A1 + + + + + 8q24.12 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 23000146[PMID]_23064416[PMID] + + alpha and gamma adaptin binding protein + AAGAB + + FLJ11506 + p34 + + + gene with protein product + + + + Ensembl + ENSG00000103591 + + + Genatlas + AAGAB + + + HGNC + 25662 + + + OMIM + 614888 + + + SwissProt + Q6PD74 + + + ClinVar + AAGAB + + + + + 15q23 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 79643 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79643 + Autosomal recessive hyperinsulinism due to SUR1 deficiency + + Disease + + + Disorder + + + + 15562009[PMID]_25733449[PMID] + + ATP binding cassette subfamily C member 8 + ABCC8 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KCNJ11 + + + + + 11p15.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 83330 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83330 + Proximal spinal muscular atrophy type 1 + + Clinical subtype + + + Subtype of disorder + + + + 20301526[PMID] + + survival of motor neuron 2, centromeric + SMN2 + + BCD541 + GEMIN1 + SMNC + TDRD16B + tudor domain containing 16B + + + gene with protein product + + + + Ensembl + ENSG00000205571 + + + Genatlas + SMN2 + + + HGNC + 11118 + + + OMIM + 601627 + + + Reactome + Q16637 + + + SwissProt + Q16637 + + + ClinVar + SMN2 + + + + + 5q13.2 + 1 + + + + + Modifying germline mutation in + + + Assessed + + + + 11912351[PMID] + + NLR family apoptosis inhibitory protein + NAIP + + NLR family, BIR domain containing 1 + NLRB1 + nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1 + + + gene with protein product + + + + Ensembl + ENSG00000249437 + + + Genatlas + NAIP + + + HGNC + 7634 + + + OMIM + 600355 + + + SwissProt + Q13075 + + + IUPHAR + 2793 + + + ClinVar + NAIP + + + + + 5q13.2 + 1 + + + + + Modifying germline mutation in + + + Assessed + + + + 20301526[PMID] + + survival of motor neuron 1, telomeric + SMN1 + + BCD541 + GEMIN1 + SMA1 + SMA2 + SMA3 + SMNT + TDRD16A + gemin-1 + tudor domain containing 16A + + + gene with protein product + + + + Ensembl + ENSG00000172062 + + + Genatlas + SMN1 + + + HGNC + 11117 + + + OMIM + 600354 + + + Reactome + Q16637 + + + SwissProt + Q16637 + + + ClinVar + SMN1 + + + + + 5q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 83419 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83419 + Proximal spinal muscular atrophy type 3 + + Clinical subtype + + + Subtype of disorder + + + + 20301526[PMID] + + survival of motor neuron 2, centromeric + SMN2 + + BCD541 + GEMIN1 + SMNC + TDRD16B + tudor domain containing 16B + + + gene with protein product + + + + Ensembl + ENSG00000205571 + + + Genatlas + SMN2 + + + HGNC + 11118 + + + OMIM + 601627 + + + Reactome + Q16637 + + + SwissProt + Q16637 + + + ClinVar + SMN2 + + + + + 5q13.2 + 1 + + + + + Modifying germline mutation in + + + Assessed + + + + 11912351[PMID] + + NLR family apoptosis inhibitory protein + NAIP + + NLR family, BIR domain containing 1 + NLRB1 + nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1 + + + gene with protein product + + + + Ensembl + ENSG00000249437 + + + Genatlas + NAIP + + + HGNC + 7634 + + + OMIM + 600355 + + + SwissProt + Q13075 + + + IUPHAR + 2793 + + + ClinVar + NAIP + + + + + 5q13.2 + 1 + + + + + Modifying germline mutation in + + + Assessed + + + + 20301526[PMID] + + survival of motor neuron 1, telomeric + SMN1 + + BCD541 + GEMIN1 + SMA1 + SMA2 + SMA3 + SMNT + TDRD16A + gemin-1 + tudor domain containing 16A + + + gene with protein product + + + + Ensembl + ENSG00000172062 + + + Genatlas + SMN1 + + + HGNC + 11117 + + + OMIM + 600354 + + + Reactome + Q16637 + + + SwissProt + Q16637 + + + ClinVar + SMN1 + + + + + 5q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 83420 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83420 + Proximal spinal muscular atrophy type 4 + + Clinical subtype + + + Subtype of disorder + + + + 20301526[PMID] + + survival of motor neuron 2, centromeric + SMN2 + + BCD541 + GEMIN1 + SMNC + TDRD16B + tudor domain containing 16B + + + gene with protein product + + + + Ensembl + ENSG00000205571 + + + Genatlas + SMN2 + + + HGNC + 11118 + + + OMIM + 601627 + + + Reactome + Q16637 + + + SwissProt + Q16637 + + + ClinVar + SMN2 + + + + + 5q13.2 + 1 + + + + + Modifying germline mutation in + + + Assessed + + + + 20301526[PMID] + + survival of motor neuron 1, telomeric + SMN1 + + BCD541 + GEMIN1 + SMA1 + SMA2 + SMA3 + SMNT + TDRD16A + gemin-1 + tudor domain containing 16A + + + gene with protein product + + + + Ensembl + ENSG00000172062 + + + Genatlas + SMN1 + + + HGNC + 11117 + + + OMIM + 600354 + + + Reactome + Q16637 + + + SwissProt + Q16637 + + + ClinVar + SMN1 + + + + + 5q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 83418 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83418 + Proximal spinal muscular atrophy type 2 + + Clinical subtype + + + Subtype of disorder + + + + 20301526[PMID] + + survival of motor neuron 2, centromeric + SMN2 + + BCD541 + GEMIN1 + SMNC + TDRD16B + tudor domain containing 16B + + + gene with protein product + + + + Ensembl + ENSG00000205571 + + + Genatlas + SMN2 + + + HGNC + 11118 + + + OMIM + 601627 + + + Reactome + Q16637 + + + SwissProt + Q16637 + + + ClinVar + SMN2 + + + + + 5q13.2 + 1 + + + + + Modifying germline mutation in + + + Assessed + + + + 11912351[PMID] + + NLR family apoptosis inhibitory protein + NAIP + + NLR family, BIR domain containing 1 + NLRB1 + nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1 + + + gene with protein product + + + + Ensembl + ENSG00000249437 + + + Genatlas + NAIP + + + HGNC + 7634 + + + OMIM + 600355 + + + SwissProt + Q13075 + + + IUPHAR + 2793 + + + ClinVar + NAIP + + + + + 5q13.2 + 1 + + + + + Modifying germline mutation in + + + Assessed + + + + 20301526[PMID] + + survival of motor neuron 1, telomeric + SMN1 + + BCD541 + GEMIN1 + SMA1 + SMA2 + SMA3 + SMNT + TDRD16A + gemin-1 + tudor domain containing 16A + + + gene with protein product + + + + Ensembl + ENSG00000172062 + + + Genatlas + SMN1 + + + HGNC + 11117 + + + OMIM + 600354 + + + Reactome + Q16637 + + + SwissProt + Q16637 + + + ClinVar + SMN1 + + + + + 5q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 83469 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83469 + Desmoplastic small round cell tumor + + Disease + + + Disorder + + + + + + WT1 transcription factor + WT1 + + AWT1 + NPHS4 + WAGR + WIT-2 + WT-1 + + + gene with protein product + + + + ClinVar + WT1 + + + Ensembl + ENSG00000184937 + + + Genatlas + WT1 + + + HGNC + 12796 + + + OMIM + 607102 + + + SwissProt + P19544 + + + Reactome + P19544 + + + + + 11p13 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + EWS RNA binding protein 1 + EWSR1 + + EWS + + + gene with protein product + + + + Reactome + Q01844 + + + Ensembl + ENSG00000182944 + + + Genatlas + EWSR1 + + + HGNC + 3508 + + + OMIM + 133450 + + + SwissProt + Q01844 + + + ClinVar + EWSR1 + + + + + 22q12.2 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 83465 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83465 + Narcolepsy type 2 + + Disease + + + Disorder + + + + 10973318[PMID]_23643651[PMID] + + hypocretin neuropeptide precursor + HCRT + + OX + PPOX + prepro-orexin + orexin + + + gene with protein product + + + + ClinVar + HCRT + + + SwissProt + O43612 + + + Ensembl + ENSG00000161610 + + + Genatlas + HCRT + + + HGNC + 4847 + + + OMIM + 602358 + + + Reactome + O43612 + + + + + 17q21.2 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 18706091[PMID]_19410508[PMID] + + major histocompatibility complex, class II, DR beta 1 + HLA-DRB1 + + + + gene with protein product + + + + ClinVar + HLA-DRB1 + + + Ensembl + ENSG00000196126 + + + Genatlas + HLA-DRB1 + + + HGNC + 4948 + + + OMIM + 142857 + + + Reactome + P04229 + + + SwissProt + P01911 + + + + + 6p21.32 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 18706091[PMID]_21345702[PMID] + + major histocompatibility complex, class II, DQ beta 1 + HLA-DQB1 + + CELIAC1 + IDDM1 + + + gene with protein product + + + + ClinVar + HLA-DQB1 + + + Ensembl + ENSG00000179344 + + + Genatlas + HLA-DQB1 + + + HGNC + 4944 + + + OMIM + 604305 + + + Reactome + P01920 + + + SwissProt + P01920 + + + + + 6p21.32 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 24204295[PMID] + + zinc finger protein 365 + ZNF365 + + KIAA0844 + Talanin + UAN + Su48 + + + gene with protein product + + + + SwissProt + Q70YC5 + + + Genatlas + ZNF365 + + + HGNC + 18194 + + + OMIM + 607818 + + + SwissProt + Q70YC4 + + + Ensembl + ENSG00000138311 + + + ClinVar + ZNF365 + + + + + 10q21.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 83473 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83473 + Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome + + Malformation syndrome + + + Disorder + + + + 22729224[PMID] + + phosphoinositide-3-kinase regulatory subunit 2 + PIK3R2 + + p85-BETA + p85beta + P85B + p85 + phosphoinositide-3-kinase regulatory subunit beta + + + gene with protein product + + + + ClinVar + PIK3R2 + + + IUPHAR + 2504 + + + Ensembl + ENSG00000105647 + + + Genatlas + PIK3R2 + + + HGNC + 8980 + + + OMIM + 603157 + + + Reactome + O00459 + + + SwissProt + O00459 + + + + + 19p13.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26520804[PMID] + + 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ENSG00000117020 + + + Genatlas + AKT3 + + + HGNC + 393 + + + IUPHAR + 2286 + + + OMIM + 611223 + + + Reactome + Q9Y243 + + + SwissProt + Q9Y243 + + + ClinVar + AKT3 + + + + + 1q43-q44 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 83472 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83472 + CAMOS syndrome + + Malformation syndrome + + + Disorder + + + + 20531441[PMID]_26123727[PMID] + + zinc finger protein 592 + ZNF592 + + CAMOS + KIAA0211 + + + gene with protein product + + + + Ensembl + ENSG00000166716 + + + Genatlas + ZNF592 + + + HGNC + 28986 + + + OMIM + 613624 + + + SwissProt + Q92610 + + + Reactome + Q92610 + + + ClinVar + ZNF592 + + + + + 15q25.3 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 26123727[PMID] + + WD repeat domain 73 + WDR73 + + FLJ14888 + HSPC264 + + + gene with protein product + + + + ClinVar + WDR73 + + + Ensembl + ENSG00000177082 + + + Genatlas + WDR73 + + + HGNC + 25928 + + + OMIM + 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gene with protein product + + + + ClinVar + FN1 + + + Ensembl + ENSG00000115414 + + + Genatlas + FN1 + + + HGNC + 3778 + + + OMIM + 135600 + + + Reactome + P02751 + + + SwissProt + P02751 + + + + + 2q35 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 84064 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84064 + Trichohepatoenteric syndrome + + Disease + + + Disorder + + + + 23302111[PMID]_20176027[PMID] + + SKI3 subunit of superkiller complex + SKIC3 + + THES + thespin + SKI complex component SKI3 (S. cerevisiae) + SKI3 + + + gene with protein product + + + + Reactome + Q6PGP7 + + + Ensembl + ENSG00000198677 + + + Genatlas + TTC37 + + + HGNC + 23639 + + + OMIM + 614589 + + + ClinVar + TTC37 + + + SwissProt + Q6PGP7 + + + + + 5q15 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22444670[PMID]_23302111[PMID] + + SKI2 subunit of superkiller complex + SKIC2 + + 170A + DDX13 + HLP + SKI2W + SKIV2L1 + SKI2 + + + gene with protein product + + + + Ensembl + ENSG00000204351 + + + Genatlas + SKIV2L + + + HGNC + 10898 + + + OMIM + 600478 + + + Reactome + Q15477 + + + SwissProt + Q15477 + + + ClinVar + SKIV2L + + + + + 6p21.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 513436 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=513436 + Autosomal recessive spastic paraplegia type 78 + + Disease + + + Disorder + + + + 28137957[PMID]_29112700[PMID]_27217339[PMID] + + ATPase cation transporting 13A2 + ATP13A2 + + CLN12 + HSA9947 + + + gene with protein product + + + + IUPHAR + 3156 + + + ClinVar + ATP13A2 + + + Ensembl + ENSG00000159363 + + + Genatlas + ATP13A2 + + + HGNC + 30213 + + + OMIM + 610513 + + + Reactome + Q9NQ11 + + + SwissProt + Q9NQ11 + + + + + 1p36.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 83639 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83639 + Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency + + Disease + + + Disorder + + + + 16767100[PMID] + + phosphatidylinositol glycan anchor biosynthesis class M + PIGM + + DPM:GlcN-(acyl-)PI mannosyltransferase + GPI mannosyltransferase 1 + GPI-MT-I + dol-P-Man dependent GPI mannosyltransferase + PIG-M + + + gene with protein product + + + + ClinVar + PIGM + + + Ensembl + ENSG00000143315 + + + Genatlas + PIGM + + + HGNC + 18858 + + + OMIM + 610273 + + + Reactome + Q9H3S5 + + + SwissProt + Q9H3S5 + + + + + 1q23.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 27626616[PMID] + + phosphatidylinositol glycan anchor biosynthesis class W + PIGW + + FLJ37433 + Gwt1 + GPI-anchored wall protein transfer 1 homolog (S. cerevisiae) + PIG-W + + + gene with protein product + + + + Ensembl + ENSG00000277161 + + + Genatlas + PIGW + + + HGNC + 23213 + + + OMIM + 610275 + + + Reactome + Q7Z7B1 + + + SwissProt + Q7Z7B1 + + + ClinVar + PIGW + + + + + 17q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 83629 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83629 + Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome + + Disease + + + Disorder + + + + 27102849[PMID] + + apoptosis inducing factor mitochondria associated 1 + AIFM1 + + AIF + CMTX4 + DFNX5 + + + gene with protein product + + + + OMIM + 300169 + + + SwissProt + O95831 + + + Ensembl + ENSG00000156709 + + + Genatlas + AIFM1 + + + HGNC + 8768 + + + Reactome + O95831 + + + ClinVar + AIFM1 + + + + + Xq26.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 513456 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=513456 + Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome + + Disease + + + Disorder + + + + 28686853[PMID] + + WD repeat domain 26 + WDR26 + + FLJ21016 + GID complex subunit 7 homolog (S. cerevisiae) + GID7 + + + gene with protein product + + + + Ensembl + ENSG00000162923 + + + SwissProt + Q9H7D7 + + + ClinVar + WDR26 + + + HGNC + 21208 + + + OMIM + 617424 + + + Genatlas + WDR26 + + + Reactome + Q9H7D7 + + + + + 1q42.11-q42.12 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 83642 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83642 + Microcytic anemia with liver iron overload + + Disease + + + Disorder + + + + 16160008[PMID]_16439678[PMID] + + solute carrier family 11 member 2 + SLC11A2 + + DCT1 + DMT1 + divalent metal transporter 1 + DMT-1 + FLJ37416 + divalent cation transporter 1 + Natural resistance-associated macrophage protein 2 + + + gene with protein product + + + + IUPHAR + 967 + + + ClinVar + SLC11A2 + + + Ensembl + ENSG00000110911 + + + Genatlas + SLC11A2 + + + HGNC + 10908 + + + OMIM + 600523 + + + Reactome + P49281 + + + SwissProt + P49281 + + + + + 12q13.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 85163 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85163 + Hypomyelination-congenital cataract syndrome + + Malformation syndrome + + + Disorder + + + + 20301737[PMID]_16951682[PMID] + + hyccin PI4KA lipid kinase complex subunit 1 + HYCC1 + + DRCTNNB1A + HCC + HYCC1 + down regulated by Ctnnb1, a + hyccin + + + gene with protein product + + + + Ensembl + ENSG00000122591 + + + Genatlas + FAM126A + + + HGNC + 24587 + + + ClinVar + FAM126A + + + OMIM + 610531 + + + SwissProt + Q9BYI3 + + + + + 7p15.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 85164 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85164 + Camptodactyly-tall stature-scoliosis-hearing loss syndrome + + Disease + + + Disorder + + + + 17033969[PMID]_24864036[PMID] + + fibroblast growth factor receptor 3 + FGFR3 + + CD333 + CEK2 + JTK4 + + + gene with protein product + + + + Ensembl + ENSG00000068078 + + + Genatlas + FGFR3 + + + HGNC + 3690 + + + IUPHAR + 1810 + + + OMIM + 134934 + + + Reactome + P22607 + + + SwissProt + P22607 + + + ClinVar + FGFR3 + + + + + 4p16.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 85146 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85146 + Neurogenic scapuloperoneal syndrome, Kaeser type + + Disease + + + Disorder + + + + 17439987[PMID] + + desmin + DES + + CMD1I + CSM1 + CSM2 + intermediate filament protein + LGMD2R + cardiomyopathy, dilated 1I + + + gene with protein product + + + + ClinVar + DES + + + Ensembl + ENSG00000175084 + + + Genatlas + DES + + + HGNC + 2770 + + + OMIM + 125660 + + + Reactome + P17661 + + + SwissProt + P17661 + + + + + 2q35 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 85128 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85128 + Bothnia retinal dystrophy + + Disease + + + Disorder + + + + 10102298[PMID] + + retinaldehyde binding protein 1 + RLBP1 + + CRALBP + + + gene with protein product + + + + Ensembl + ENSG00000140522 + + + Genatlas + RLBP1 + + + HGNC + 10024 + + + OMIM + 180090 + + + Reactome + P12271 + + + SwissProt + P12271 + + + IUPHAR + 2545 + + + ClinVar + RLBP1 + + + + + 15q26.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 85136 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85136 + Cystic leukoencephalopathy without megalencephaly + + Disease + + + Disorder + + + + 28857146[PMID] + + NADH:ubiquinone oxidoreductase subunit A2 + NDUFA2 + + B8 + complex I B8 subunit + + + gene with protein product + + + + ClinVar + NDUFA2 + + + Ensembl + ENSG00000131495 + + + Genatlas + NDUFA2 + + + HGNC + 7685 + + + OMIM + 602137 + + + Reactome + O43678 + + + SwissProt + O43678 + + + + + 5q31.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 19525954[PMID] + + ribonuclease T2 + RNASET2 + + FLJ10907 + RNASE6PL + bA514O12.3 + + + gene with protein product + + + + ClinVar + RNASET2 + + + Reactome + O00584 + + + Ensembl + ENSG00000026297 + + + Genatlas + RNASET2 + + + HGNC + 21686 + + + OMIM + 612944 + + + SwissProt + O00584 + + + + + 6q27 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 85112 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85112 + Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome + + Disease + + + Disorder + + + + 17041600[PMID] + + R-spondin 1 + RSPO1 + + FLJ40906 + RSPONDIN + + + gene with protein product + + + + Ensembl + ENSG00000169218 + + + Genatlas + RSPO1 + + + HGNC + 21679 + + + OMIM + 609595 + + + Reactome + Q2MKA7 + + + SwissProt + Q2MKA7 + + + ClinVar + RSPO1 + + + + + 1p34.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 84132 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84132 + Desmin-related myopathy with Mallory body-like inclusions + + Disease + + + Disorder + + + + 15122708[PMID] + + selenoprotein N + SELENON + + RSS + SELN + + + gene with protein product + + + + ClinVar + SEPN1 + + + Ensembl + ENSG00000162430 + + + Genatlas + SEPN1 + + + HGNC + 15999 + + + OMIM + 606210 + + + SwissProt + Q9NZV5 + + + + + 1p36.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 85186 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85186 + Endosteal sclerosis-cerebellar hypoplasia syndrome + + Malformation syndrome + + + Disorder + + + + 28589944[PMID]_15672385[PMID] + + RNA polymerase III subunit B + POLR3B + + FLJ10388 + RPC2 + C128 + + + gene with protein product + + + + ClinVar + POLR3B + + + Ensembl + ENSG00000013503 + + + Genatlas + POLR3B + + + HGNC + 30348 + + + OMIM + 614366 + + + Reactome + Q9NW08 + + + SwissProt + Q9NW08 + + + + + 12q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 85182 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85182 + Diaphyseal medullary stenosis-bone malignancy syndrome + + Disease + + + Disorder + + + + + + methylthioadenosine phosphorylase + MTAP + + MSAP + S-methyl-5'-thioadenosine phosphorylase + c86fus + + + gene with protein product + + + + SwissProt + Q13126 + + + Ensembl + ENSG00000099810 + + + Genatlas + MTAP + + + HGNC + 7413 + + + OMIM + 156540 + + + Reactome + Q13126 + + + ClinVar + MTAP + + + + + 9p21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 85179 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85179 + Infantile osteopetrosis with neuroaxonal dysplasia + + Malformation syndrome + + + Disorder + + + + 23685543[PMID] + + osteoclastogenesis associated transmembrane protein 1 + OSTM1 + + CLCN7 accessory beta subunit + GL + HSPC019 + grey-lethal + + + gene with protein product + + + + Ensembl + ENSG00000081087 + + + Genatlas + OSTM1 + + + HGNC + 21652 + + + OMIM + 607649 + + + Reactome + Q86WC4 + + + SwissProt + Q86WC4 + + + ClinVar + OSTM1 + + + + + 6q21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 85173 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85173 + IMAGe syndrome + + Malformation syndrome + + + Disorder + + + + 22634751[PMID] + + cyclin dependent kinase inhibitor 1C + CDKN1C + + KIP2 + P57 + + + gene with protein product + + + + Ensembl + ENSG00000129757 + + + Genatlas + CDKN1C + + + HGNC + 1786 + + + OMIM + 600856 + + + SwissProt + P49918 + + + Reactome + P49918 + + + ClinVar + CDKN1C + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 30503519[PMID] + + DNA polymerase epsilon, catalytic subunit + POLE + + DNA polymerase epsilon catalytic subunit A + POLE1 + + + gene with protein product + + + + ClinVar + POLE + + + OMIM + 174762 + + + Reactome + Q07864 + + + SwissProt + Q07864 + + + Ensembl + ENSG00000177084 + + + Genatlas + POLE + + + HGNC + 9177 + + + + + 12q24.33 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 85172 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85172 + Microcephalic osteodysplastic dysplasia, Saul-Wilson type + + Disease + + + Disorder + + + + 30290151[PMID] + + component of oligomeric golgi complex 4 + COG4 + + COD1 + DKFZP586E1519 + + + gene with protein product + + + + ClinVar + COG4 + + + OMIM + 606976 + + + Reactome + Q9H9E3 + + + SwissProt + Q9H9E3 + + + Ensembl + ENSG00000103051 + + + Genatlas + COG4 + + + HGNC + 18620 + + + + + 16q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 85169 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85169 + Familial digital arthropathy-brachydactyly + + Malformation syndrome + + + Disorder + + + + 21964574[PMID]_24830047[PMID] + + transient receptor potential cation channel subfamily V member 4 + TRPV4 + + CMT2C + OTRPC4 + TRP12 + VR-OAC 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Ensembl + ENSG00000068078 + + + Genatlas + FGFR3 + + + HGNC + 3690 + + + IUPHAR + 1810 + + + OMIM + 134934 + + + Reactome + P22607 + + + SwissProt + P22607 + + + ClinVar + FGFR3 + + + + + 4p16.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 603448 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603448 + Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome + + Malformation syndrome + + + Disorder + + + + 33186545[PMID] + + vacuolar protein sorting 4 homolog A + VPS4A + + SKD2 + VPS4-1 + VPS4 + FLJ22197 + SKD1 + SKD1A + + + gene with protein product + + + + Ensembl + ENSG00000132612 + + + HGNC + 13488 + + + OMIM + 609982 + + + SwissProt + Q9UN37 + + + + + 16q23.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 603689 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603689 + KLHL7-related Bohring-Opitz-like syndrome + + Malformation syndrome + + + Disorder + + + + 29074562[PMID] + + kelch like family member 7 + KLHL7 + + KLHL6 + RP42 + SBBI26 + retinitis pigmentosa 42 + + + gene with protein product + + + + Ensembl + ENSG00000122550 + + + Genatlas + KLHL7 + + + HGNC + 15646 + + + OMIM + 611119 + + + SwissProt + Q8IXQ5 + + + ClinVar + KLHL7 + + + + + 7p15.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 603684 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603684 + KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome + + Malformation syndrome + + + Disorder + + + + 29074562[PMID] + + kelch like family member 7 + KLHL7 + + KLHL6 + RP42 + SBBI26 + retinitis pigmentosa 42 + + + gene with protein product + + + + Ensembl + ENSG00000122550 + + + Genatlas + KLHL7 + + + HGNC + 15646 + + + OMIM + 611119 + + + SwissProt + Q8IXQ5 + + + ClinVar + KLHL7 + + + + + 7p15.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 603694 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603694 + KLHL7-related Crisponi/cold-induced sweating-like syndrome + + Disease + + + Disorder + + + + 29074562[PMID] + + kelch like family member 7 + KLHL7 + + KLHL6 + RP42 + SBBI26 + retinitis pigmentosa 42 + + + gene with protein product + + + + Ensembl + ENSG00000122550 + + + Genatlas + KLHL7 + + + HGNC + 15646 + + + OMIM + 611119 + + + SwissProt + Q8IXQ5 + + + ClinVar + KLHL7 + + + + + 7p15.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 610573 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610573 + CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome + + Disease + + + Disorder + + + + 33217309[PMID] + + chloride voltage-gated channel 6 + CLCN6 + + CLC-6 + ClC-6 + KIAA0046 + + + gene with protein product + + + + HGNC + 2024 + + + Ensembl + ENSG00000011021 + + + OMIM + 602726 + + + IUPHAR + 705 + + + SwissProt + P51797 + + + + + 1p36.22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 610569 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610569 + KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome + + Disease + + + Disorder + + + + 29290337[PMID] + + bridge-like lipid transfer protein family member 1 + BLTP1 + + FLJ21404 + FSA + KIAA1371 + Tweek + fragile site-associated + + + gene with protein product + + + + HGNC + 26953 + + + Ensembl + ENSG00000138688 + + + SwissProt + Q2LD37 + + + OMIM + 611565 + + + + + 4q27 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 611201 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611201 + Oculogastrointestinal-neurodevelopmental syndrome + + Malformation syndrome + + + Disorder + + + + 32885237[PMID] + + calpain 15 + CAPN15 + + + + gene with protein product + + + + OMIM + 603267 + + + HGNC + 11182 + + + Ensembl + ENSG00000103326 + + + SwissProt + O75808 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 600668 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600668 + CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome + + Disease + + + Disorder + + + + 30122539[PMID] + + cyclin K + CCNK + + CPR4 + + + gene with protein product + + + + Ensembl + ENSG00000090061 + + + OMIM + 603544 + + + HGNC + 1596 + + + SwissProt + O75909 + + + + + 14q32.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 600663 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600663 + NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance + + Malformation syndrome + + + Disorder + + + + 25408897[PMID] + + neurexin 1 + NRXN1 + + Hs.22998 + KIAA0578 + + + gene with protein product + + + + Reactome + P58400 + + + SwissProt + Q9ULB1 + + + Reactome + Q9ULB1 + + + ClinVar + NRXN1 + + + Ensembl + ENSG00000179915 + + + Genatlas + NRXN1 + + + HGNC + 8008 + + + OMIM + 600565 + + + SwissProt + P58400 + + + + + 2p16.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 97244 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97244 + Rigid spine syndrome + + Disease + + + Disorder + + + + 25182138[PMID] + + actin alpha 1, skeletal muscle + ACTA1 + + NEM3 + nemaline myopathy type 3 + + + gene with protein product + + + + ClinVar + ACTA1 + + + OMIM + 102610 + + + Reactome + P68133 + + + SwissProt + P68133 + + + Ensembl + ENSG00000143632 + + + Genatlas + ACTA1 + + + HGNC + 129 + + + + + 1q42.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301468[PMID]_11528383[PMID] + + selenoprotein N + SELENON + + RSS + SELN + + + gene with protein product + + + + ClinVar + SEPN1 + + + Ensembl + ENSG00000162430 + + + Genatlas + SEPN1 + + + HGNC + 15999 + + + OMIM + 606210 + + + SwissProt + Q9NZV5 + + + + + 1p36.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 97249 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97249 + Pontocerebellar hypoplasia type 3 + + Malformation syndrome + + + Disorder + + + + 25832664[PMID] + + piccolo presynaptic cytomatrix protein + PCLO + + ACZ + DKFZp779G1236 + KIAA0559 + aczonin + + + gene with protein product + + + + Ensembl + ENSG00000186472 + + + Genatlas + PCLO + + + HGNC + 13406 + + + OMIM + 604918 + + + SwissProt + Q9Y6V0 + + + ClinVar + PCLO + + + + + 7q21.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 97279 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97279 + Insulinoma + + Disease + + + Disorder + + + + 24326773[PMID] + + YY1 transcription factor + YY1 + + INO80S + UCRBP + YIN-YANG-1 + NF-E1 + DELTA + Yin and Yang 1 protein + INO80 complex subunit S + + + gene with protein product + + + + HGNC + 12856 + + + SwissProt + P25490 + + + OMIM + 600013 + + + ClinVar + YY1 + + + Ensembl + ENSG00000100811 + + + Reactome + P25490 + + + Genatlas + YY1 + + + + + 14q32.2 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 26307114[PMID] + + menin 1 + MEN1 + + menin + + + gene with protein product + + + + Ensembl + ENSG00000133895 + + + Genatlas + MEN1 + + + HGNC + 7010 + + + OMIM + 613733 + + + Reactome + O00255 + + + SwissProt + O00255 + + + ClinVar + MEN1 + + + + + 11q13 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 97286 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97286 + Carney-Stratakis syndrome + + Disease + + + Disorder + + + + 31413764[PMID]_23282968[PMID] + + succinate dehydrogenase complex flavoprotein subunit A + SDHA + + FP + SDHF + flavoprotein subunit of complex II + succinate dehydrogenase [ubiquinone] flavoprotein subunit + + + gene with protein product + + + + ClinVar + SDHA + + + Ensembl + ENSG00000073578 + + + Genatlas + SDHA + + + HGNC + 10680 + + + OMIM + 600857 + + + Reactome + P31040 + + + SwissProt + P31040 + + + + + 5p15.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 17667967[PMID] + + succinate dehydrogenase complex iron sulfur subunit B + SDHB + + iron-sulfur subunit of complex II + succinate dehydrogenase [ubiquinone] iron-sulfur subunit + + + gene with protein product + + + + ClinVar + SDHB + + + Reactome + P21912 + + + SwissProt + P21912 + + + Ensembl + ENSG00000117118 + + + Genatlas + SDHB + + + HGNC + 10681 + + + OMIM + 185470 + + + + + 1p36.13 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 17667967[PMID] + + succinate dehydrogenase complex subunit C + SDHC + + CYB560 + cybL + large subunit of cytochrome b + succinate dehydrgenase cytochrome b + succinate dehydrogenase cytochrome b560 subunit + + + gene with protein product + + + + ClinVar + SDHC + + + Ensembl + ENSG00000143252 + + + Genatlas + SDHC + + + HGNC + 10682 + + + OMIM + 602413 + + + Reactome + Q99643 + + + SwissProt + Q99643 + + + + + 1q23.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 17667967[PMID] + + succinate dehydrogenase complex subunit D + SDHD + + cybS + small subunit of cytochrome b + + + gene with protein product + + + + ClinVar + SDHD + + + Ensembl + ENSG00000204370 + + + Genatlas + SDHD + + + HGNC + 10683 + + + OMIM + 602690 + + + Reactome + O14521 + + + SwissProt + O14521 + + + + + 11q23.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 97297 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97297 + Bohring-Opitz syndrome + + Malformation syndrome + + + Disorder + + + + 21706002[PMID] + + ASXL transcriptional regulator 1 + ASXL1 + + KIAA0978 + + + gene with protein product + + + + Reactome + Q8IXJ9 + + + Ensembl + ENSG00000171456 + + + Genatlas + ASXL1 + + + HGNC + 18318 + + + OMIM + 612990 + + + SwissProt + Q8IXJ9 + + + ClinVar + ASXL1 + + + + + 20q11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 97338 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97338 + Melanoma of soft tissue + + Disease + + + Disorder + + + + 19561568[PMID] + + EWS RNA binding protein 1 + EWSR1 + + EWS + + + gene with protein product + + + + Reactome + Q01844 + + + Ensembl + ENSG00000182944 + + + Genatlas + EWSR1 + + + HGNC + 3508 + + + OMIM + 133450 + + + SwissProt + Q01844 + + + ClinVar + EWSR1 + + + + + 22q12.2 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 19561568[PMID] + + activating transcription factor 1 + ATF1 + + TREB36 + + + gene with protein product + + + + ClinVar + ATF1 + + + Ensembl + ENSG00000123268 + + + Genatlas + ATF1 + + + HGNC + 783 + + + OMIM + 123803 + + + Reactome + P18846 + + + SwissProt + P18846 + + + + + 12q13.12 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 19561568[PMID] + + cAMP responsive element binding protein 1 + CREB1 + + + + gene with protein product + + + + OMIM + 123810 + + + Reactome + P16220 + + + SwissProt + P16220 + + + Ensembl + ENSG00000118260 + + + Genatlas + CREB1 + + + HGNC + 2345 + + + ClinVar + CREB1 + + + + + 2q33.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 97346 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97346 + ADan amyloidosis + + Clinical subtype + + + Subtype of disorder + + + + 10781099[PMID] + + integral membrane protein 2B + ITM2B + + BRI + BRI2 + BRICD2B + BRICHOS domain containing 2B + E25B + E3-16 + + + gene with protein product + + + + SwissProt + Q9Y287 + + + ClinVar + ITM2B + + + Ensembl + ENSG00000136156 + + + Genatlas + ITM2B + + + HGNC + 6174 + + + OMIM + 603904 + + + Reactome + Q9Y287 + + + + + 13q14.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 97345 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97345 + ABri amyloidosis + + Clinical subtype + + + Subtype of disorder + + + + 10391242[PMID] + + integral membrane protein 2B + ITM2B + + BRI + BRI2 + BRICD2B + BRICHOS domain containing 2B + E25B + E3-16 + + + gene with protein product + + + + SwissProt + Q9Y287 + + + ClinVar + ITM2B + + + Ensembl + ENSG00000136156 + + + Genatlas + ITM2B + + + HGNC + 6174 + + + OMIM + 603904 + + + Reactome + Q9Y287 + + + + + 13q14.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 97362 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97362 + Renal hypoplasia, bilateral + + Clinical subtype + + + Subtype of disorder + + + + 11461952[PMID]_23539225[PMID]_22138676[PMID]_17513325[PMID] + + paired box 2 + PAX2 + + PAX-2 + + + gene with protein product + + + + Ensembl + ENSG00000075891 + + + Genatlas + PAX2 + + + HGNC + 8616 + + + OMIM + 167409 + + + SwissProt + Q02962 + + + ClinVar + PAX2 + + + + + 10q24.31 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 28270404[PMID] + + PBX homeobox 1 + PBX1 + + + + gene with protein product + + + + ClinVar + PBX1 + + + Ensembl + ENSG00000185630 + + + Genatlas + PBX1 + + + HGNC + 8632 + + + OMIM + 176310 + + + Reactome + P40424 + + + SwissProt + P40424 + + + + + 1q23.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 97363 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97363 + Unilateral multicystic dysplastic kidney + + Clinical subtype + + + Subtype of disorder + + + + 20155289[PMID]_23725647[PMID] + + HNF1 homeobox B + HNF1B + + HNF1beta + LFB3 + MODY5 + VHNF1 + HNF1ß + hepatocyte nuclear factor 1 beta + + + gene with protein product + + + + ClinVar + HNF1B + + + Ensembl + ENSG00000275410 + + + Genatlas + HNF1B + + + HGNC + 11630 + + + OMIM + 189907 + + + Reactome + P35680 + + + SwissProt + P35680 + + + + + 17q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 97364 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97364 + Bilateral multicystic dysplastic kidney + + Clinical subtype + + + Subtype of disorder + + + + 20155289[PMID]_23725647[PMID] + + HNF1 homeobox B + HNF1B + + HNF1beta + LFB3 + MODY5 + VHNF1 + HNF1ß + hepatocyte nuclear factor 1 beta + + + gene with protein product + + + + ClinVar + HNF1B + + + Ensembl + ENSG00000275410 + + + Genatlas + HNF1B + + + HGNC + 11630 + + + OMIM + 189907 + + + Reactome + P35680 + + + SwissProt + P35680 + + + + + 17q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 97369 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97369 + Renal tubular dysgenesis of genetic origin + + Etiological subtype + + + Subtype of disorder + + + + 16116425[PMID]_22095942[PMID] + + angiotensin I converting enzyme + ACE + + ACE1 + CD143 + peptidyl-dipeptidase A + + + gene with protein product + + + + ClinVar + ACE + + + Genatlas + ACE + + + HGNC + 2707 + + + IUPHAR + 1613 + + + OMIM + 106180 + + + Reactome + P12821 + + + SwissProt + P12821 + + + Ensembl + ENSG00000159640 + + + + + 17q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 16116425[PMID]_22095942[PMID] + + angiotensinogen + AGT + + alpha-1 antiproteinase, antitrypsin + + + gene with protein product + + + + Reactome + P01019 + + + SwissProt + P01019 + + + Ensembl + ENSG00000135744 + + + Genatlas + AGT + + + HGNC + 333 + + + OMIM + 106150 + + + ClinVar + AGT + + + + + 1q42.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 16116425[PMID]_22095942[PMID] + + renin + REN + + + + gene with protein product + + + + Ensembl + ENSG00000143839 + + + Genatlas + REN + + + HGNC + 9958 + + + IUPHAR + 2413 + + + OMIM + 179820 + + + Reactome + P00797 + + + SwissProt + P00797 + + + ClinVar + REN + + + + + 1q32.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 16116425[PMID]_22095942[PMID] + + angiotensin II receptor type 1 + AGTR1 + + ATR1 + angiotensin II type 1 receptor + AG2S + AGTR1A + AT1 + AT1B + AT2R1 + AT2R1A + AT2R1B + HAT1R + + + gene with protein product + + + + Ensembl + ENSG00000144891 + + + Genatlas + AGTR1 + + + HGNC + 336 + + + IUPHAR + 34 + + + OMIM + 106165 + + + Reactome + P30556 + + + SwissProt + P30556 + + + ClinVar + AGTR1 + + + + + 3q24 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 97548 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97548 + Right isomerism + + Malformation syndrome + + + Disorder + + + + 20413652[PMID] + + growth differentiation factor 1 + GDF1 + + + + gene with protein product + + + + ClinVar + GDF1 + + + SwissProt + P27539 + + + Ensembl + ENSG00000130283 + + + Genatlas + GDF1 + + + HGNC + 4214 + + + OMIM + 602880 + + + Reactome + P27539 + + + + + 19p13.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 96182 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96182 + Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 + + Etiological subtype + + + Subtype of disorder + + + + 31100449[PMID] + + growth factor receptor bound protein 10 + GRB10 + + + + gene with protein product + + + + HGNC + 4564 + + + Ensembl + ENSG00000106070 + + + OMIM + 601523 + + + SwissProt + Q13322 + + + + + 7p12.1 + 1 + + + + + Candidate gene tested in + + + Assessed + + + + + + 96191 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96191 + Paternal uniparental disomy of chromosome 6 syndrome + + Malformation syndrome + + + Disorder + + + + + + hydatidiform mole associated and imprinted + HYMAI + + NCRNA00020 + non-protein coding RNA 20 + + + Non-coding RNA + + + + Ensembl + ENSG00000283122 + + + Genatlas + HYMAI + + + HGNC + 5326 + + + OMIM + 606546 + + + ClinVar + HYMAI + + + + + 6q24.2 + 1 + + + + + Role in the phenotype of + + + Not yet assessed + + + + + + PLAG1 like zinc finger 1 + PLAGL1 + + LOT1 + ZAC + + + gene with protein product + + + + Ensembl + ENSG00000118495 + + + Genatlas + PLAGL1 + + + HGNC + 9046 + + + OMIM + 603044 + + + SwissProt + Q9UM63 + + + ClinVar + PLAGL1 + + + Reactome + Q9UM63 + + + + + 6q24.2 + 1 + + + + + Role in the phenotype of + + + Not yet assessed + + + + + + 96184 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96184 + Temple syndrome due to maternal uniparental disomy of chromosome 14 + + Etiological subtype + + + Subtype of disorder + + + + 18176563[PMID]_24801763[PMID] + + maternally expressed 3 + MEG3 + + GTL2 + LINC00023 + NCRNA00023 + long intergenic non-protein coding RNA 23 + non-protein coding RNA 23 + onco-lncRNA-83 + gene trap locus 2 + + + Non-coding RNA + + + + Ensembl + ENSG00000214548 + + + Genatlas + MEG3 + + + HGNC + 14575 + + + OMIM + 605636 + + + ClinVar + MEG3 + + + + + 14q32.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 18176563[PMID] + + delta like non-canonical Notch ligand 1 + DLK1 + + Delta1 + FA1 + Pref-1 + ZOG + pG2 + + + gene with protein product + + + + ClinVar + DLK1 + + + Ensembl + ENSG00000185559 + + + Genatlas + DLK1 + + + HGNC + 2907 + + + OMIM + 176290 + + + Reactome + P80370 + + + SwissProt + P80370 + + + + + 14q32.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 18176563[PMID] + + retrotransposon Gag like 1 + RTL1 + + Sushi-Ichi retrotransposon homolog 2 + SIRH2 + HUR1 + paternally expressed 11 + mammalian retrotransposon-derived 1 + MART1 + Mar1 + PEG11 + + + gene with protein product + + + + Ensembl + ENSG00000254656 + + + Genatlas + RTL1 + + + HGNC + 14665 + + + OMIM + 611896 + + + SwissProt + A6NKG5 + + + ClinVar + RTL1 + + + + + 14q32.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 96253 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96253 + Cushing disease + + Disease + + + Disorder + + + + 28413019[PMID] + + cadherin related 23 + CDH23 + + CDHR23 + cadherin-related family member 23 + + + gene with protein product + + + + Ensembl + ENSG00000107736 + + + Genatlas + CDH23 + + + HGNC + 13733 + + + OMIM + 605516 + + + SwissProt + Q9H251 + + + ClinVar + CDH23 + + + + + 10q22.1 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 30093687[PMID] + + ubiquitin specific peptidase 48 + USP48 + + FLJ23277 + FLJ20103 + FLJ23054 + FLJ11328 + MGC14879 + + + gene with protein product + + + + HGNC + 18533 + + + Ensembl + ENSG00000090686 + + + OMIM + 617445 + + + SwissProt + Q86UV5 + + + + + 1p36.12 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 30093687[PMID] + + B-Raf proto-oncogene, serine/threonine kinase + BRAF + + BRAF1 + BRAF-1 + + + gene with protein product + + + + Ensembl + ENSG00000157764 + + + Genatlas + BRAF + + + HGNC + 1097 + + + IUPHAR + 1943 + + + OMIM + 164757 + + + Reactome + P15056 + + + SwissProt + P15056 + + + ClinVar + BRAF + + + + + 7q34 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96334 + Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 + + Etiological subtype + + + Subtype of disorder + + + + 18176563[PMID]_24801763[PMID] + + maternally expressed 3 + MEG3 + + GTL2 + LINC00023 + NCRNA00023 + long intergenic non-protein coding RNA 23 + non-protein coding RNA 23 + onco-lncRNA-83 + gene trap locus 2 + + + Non-coding RNA + + + + Ensembl + ENSG00000214548 + + + Genatlas + MEG3 + + + HGNC + 14575 + + + OMIM + 605636 + + + ClinVar + MEG3 + + + + + 14q32.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 18176563[PMID] + + delta like non-canonical Notch ligand 1 + DLK1 + + Delta1 + FA1 + Pref-1 + ZOG + pG2 + + + gene with protein product + + + + ClinVar + DLK1 + + + Ensembl + ENSG00000185559 + + + Genatlas + DLK1 + + + HGNC + 2907 + + + OMIM + 176290 + + + Reactome + P80370 + + + SwissProt + P80370 + + + + + 14q32.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 18176563[PMID] + + retrotransposon Gag like 1 + RTL1 + + Sushi-Ichi retrotransposon homolog 2 + SIRH2 + HUR1 + paternally expressed 11 + mammalian retrotransposon-derived 1 + MART1 + Mar1 + PEG11 + + + gene with protein product + + + + Ensembl + ENSG00000254656 + + + Genatlas + RTL1 + + + HGNC + 14665 + + + OMIM + 611896 + + + SwissProt + A6NKG5 + + + ClinVar + RTL1 + + + + + 14q32.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 97234 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97234 + Glycogen storage disease due to phosphoglycerate mutase deficiency + + Disease + + + Disorder + + + + + + phosphoglycerate mutase 2 + PGAM2 + + PGAM-M + + + gene with protein product + + + + Ensembl + ENSG00000164708 + + + Genatlas + PGAM2 + + + HGNC + 8889 + + + OMIM + 612931 + + + Reactome + P15259 + + + SwissProt + P15259 + + + ClinVar + PGAM2 + + + + + 7p13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 97238 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97238 + Rippling muscle disease + + Disease + + + Disorder + + + + 12557291[PMID]_15668980[PMID] + + caveolin 3 + CAV3 + + LGMD1C + LQT9 + M-caveolin + VIP-21 + VIP21 + + + gene with protein product + + + + Ensembl + ENSG00000182533 + + + Genatlas + CAV3 + + + HGNC + 1529 + + + OMIM + 601253 + + + Reactome + P56539 + + + SwissProt + P56539 + + + ClinVar + CAV3 + + + + + 3p25.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 97239 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97239 + Reducing body myopathy + + Disease + + + Disorder + + + + 18274675[PMID] + + four and a half LIM domains 1 + FHL1 + + FHL1B + FLH1A + Four-and-a-half LIM domains 1 + KYO-T + LIM protein SLIMMER + MGC111107 + SLIM1 + XMPMA + bA535K18.1 + + + gene with protein product + + + + Ensembl + ENSG00000022267 + + + Genatlas + FHL1 + + + HGNC + 3702 + + + OMIM + 300163 + + + SwissProt + Q13642 + + + ClinVar + FHL1 + + + Reactome + Q13642 + + + + + Xq26.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 97240 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97240 + Zebra body myopathy + + Disease + + + Disorder + + + + 25747004[PMID] + + actin alpha 1, skeletal muscle + ACTA1 + + NEM3 + nemaline myopathy type 3 + + + gene with protein product + + + + ClinVar + ACTA1 + + + OMIM + 102610 + + + Reactome + P68133 + + + SwissProt + P68133 + + + Ensembl + ENSG00000143632 + + + Genatlas + ACTA1 + + + HGNC + 129 + + + + + 1q42.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 600194 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600194 + Factor V Atlanta bleeding disorder + + Etiological subtype + + + Subtype of disorder + + + + 33773040[PMID] + + coagulation factor V + F5 + + + + gene with protein product + + + + ClinVar + F5 + + + Ensembl + ENSG00000198734 + + + Genatlas + F5 + + + HGNC + 3542 + + + IUPHAR + 2606 + + + OMIM + 612309 + + + Reactome + P12259 + + + SwissProt + P12259 + + + + + 1q24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 97685 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685 + 17q11 microdeletion syndrome + + Clinical subtype + + + Subtype of disorder + + + + + + neurofibromin 1 + NF1 + + Watson disease + neurofibromatosis + von Recklinghausen disease + + + gene with protein product + + + + Ensembl + ENSG00000196712 + + + Genatlas + NF1 + + + HGNC + 7765 + + + OMIM + 613113 + + + ClinVar + NF1 + + + Reactome + P21359 + + + SwissProt + P21359 + + + + + 17q11.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 95706 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95706 + Non-syndromic posterior hypospadias + + Morphological anomaly + + + Disorder + + + + 24722170[PMID] + + androgen receptor + AR + + AIS + HUMARA + Kennedy disease + NR3C4 + SMAX1 + testicular feminization + + + gene with protein product + + + + Ensembl + ENSG00000169083 + + + Genatlas + AR + + + HGNC + 644 + + + IUPHAR + 628 + + + OMIM + 313700 + + + Reactome + P10275 + + + SwissProt + P10275 + + + ClinVar + AR + + + + + Xq12 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 17086185[PMID] + + mastermind like domain containing 1 + MAMLD1 + + CG1 + F18 + + + gene with protein product + + + + ClinVar + MAMLD1 + + + Ensembl + ENSG00000013619 + + + Genatlas + MAMLD1 + + + HGNC + 2568 + + + OMIM + 300120 + + + Reactome + Q13495 + + + SwissProt + Q13495 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 95702 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95702 + X-linked adrenal hypoplasia congenita + + Disease + + + Disorder + + + + 20301604[PMID] + + nuclear receptor subfamily 0 group B member 1 + NR0B1 + + AHCH + DAX1 + + + gene with protein product + + + + ClinVar + NR0B1 + + + IUPHAR + 635 + + + OMIM + 300473 + + 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OMIM + 612772 + + + SwissProt + Q1HG44 + + + ClinVar + DUOXA2 + + + + + 15q21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20537182[PMID]_21543982[PMID] + + thyroglobulin + TG + + AITD3 + TGN + + + gene with protein product + + + + ClinVar + TG + + + Ensembl + ENSG00000042832 + + + Genatlas + TG + + + HGNC + 11764 + + + OMIM + 188450 + + + SwissProt + P01266 + + + + + 8q24.22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20537182[PMID]_21543982[PMID] + + iodotyrosine deiodinase + IYD + + DEHAL1 + dJ422F24.1 + + + gene with protein product + + + + IUPHAR + 2488 + + + ClinVar + IYD + + + Ensembl + ENSG00000009765 + + + Genatlas + IYD + + + HGNC + 21071 + + + OMIM + 612025 + + + Reactome + Q6PHW0 + + + SwissProt + Q6PHW0 + + + + + 6q25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 95713 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95713 + Athyreosis + + Morphological 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box 8 + PAX8 + + PAX-8 + + + gene with protein product + + + + Reactome + Q06710 + + + Ensembl + ENSG00000125618 + + + Genatlas + PAX8 + + + HGNC + 8622 + + + OMIM + 167415 + + + SwissProt + Q06710 + + + ClinVar + PAX8 + + + + + 2q14.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 95699 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95699 + Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency + + Disease + + + Disorder + + + + + + cytochrome p450 oxidoreductase + POR + + CYPOR + FLJ26468 + NADPH--hemoprotein reductase + + + gene with protein product + + + + Reactome + P16435 + + + ClinVar + POR + + + Ensembl + ENSG00000127948 + + + Genatlas + POR + + + HGNC + 9208 + + + OMIM + 124015 + + + SwissProt + P16435 + + + + + 7q11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 95496 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95496 + Pituitary 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SETD2 + + + IUPHAR + 2702 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 597887 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597887 + ALPI-related inflammatory bowel disease + + Disease + + + Disorder + + + + 29567797[PMID] + + alkaline phosphatase, intestinal + ALPI + + IAP + intestinal alkaline phosphatase + + + gene with protein product + + + + Ensembl + ENSG00000163295 + + + OMIM + 171740 + + + SwissProt + P09923 + + + HGNC + 437 + + + + + 2q37.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 597939 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597939 + Euthyroid dysprealbuminemic hyperthyroxinemia + + Disease + + + Disorder + + + + 1979335[PMID] + + transthyretin + TTR + + CTS + HsT2651 + + + gene with protein product + + + + IUPHAR + 2851 + + + Ensembl + ENSG00000118271 + + + Genatlas + TTR + + + HGNC + 12405 + + + OMIM + 176300 + + + Reactome + P02766 + + + SwissProt + P02766 + + + ClinVar + TTR + + + + + 18q12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 597743 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597743 + SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome + + Malformation syndrome + + + Disorder + + + + 32710489[PMID] + + SET domain containing 2, histone lysine methyltransferase + SETD2 + + FLJ23184 + HIF-1 + HYPB + KIAA1732 + KMT3A + + + gene with protein product + + + + OMIM + 612778 + + + Reactome + Q9BYW2 + + + SwissProt + Q9BYW2 + + + Ensembl + ENSG00000181555 + + + Genatlas + SETD2 + + + HGNC + 18420 + + + ClinVar + SETD2 + + + IUPHAR + 2702 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93552 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93552 + Pediatric systemic lupus erythematosus + + Disease + + + Disorder + + + + 35977808[PMID] + + spermidine/spermine N1-acetyltransferase 1 + SAT1 + + SSAT + diamine N-acetyltransferase 1 + + + gene with protein product + + + + Ensembl + ENSG00000130066 + + + Genatlas + SAT1 + + + HGNC + 10540 + + + OMIM + 313020 + + + Reactome + P21673 + + + SwissProt + P21673 + + + ClinVar + SAT1 + + + + + Xp22.11 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 24023622[PMID]_17804842[PMID] + + signal transducer and activator of transcription 4 + STAT4 + + + + gene with protein product + + + + Ensembl + ENSG00000138378 + + + Genatlas + STAT4 + + + HGNC + 11365 + + + OMIM + 600558 + + + SwissProt + Q14765 + + + Reactome + Q14765 + + + ClinVar + STAT4 + + + + + 2q32.2-q32.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 24023622[PMID] + + secreted phosphoprotein 1 + SPP1 + + ETA-1 + BSPI + early T-lymphocyte activation 1 + lnc-PKD2-2-3 + + + gene with protein product + + + + Ensembl + ENSG00000118785 + + + Genatlas + SPP1 + + + HGNC + 11255 + + + OMIM + 166490 + + + Reactome + P10451 + + + SwissProt + P10451 + + + ClinVar + SPP1 + + + + + 4q22.1 + 1 + + + + + Major susceptibility factor in + + + Not yet assessed + + + + 19329491[PMID] + + interleukin 1 receptor associated kinase 1 + IRAK1 + + IRAK + pelle + + + gene with protein product + + + + Genatlas + IRAK1 + + + HGNC + 6112 + + + IUPHAR + 2042 + + + OMIM + 300283 + + + Reactome + P51617 + + + SwissProt + P51617 + + + Ensembl + ENSG00000184216 + + + ClinVar + IRAK1 + + + + + Xq28 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 597874 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597874 + MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome + + Disease + + + Disorder + + + + 30031689[PMID] + + methenyltetrahydrofolate synthetase + MTHFS + + HsT19268 + 5,10-methenyltetrahydrofolate synthetase + 5-formyltetrahydrofolate cyclo-ligase + + + gene with protein product + + + + OMIM + 604197 + + + Reactome + P49914 + + + HGNC + 7437 + + + Ensembl + ENSG00000136371 + + + ClinVar + MTHFS + + + Genatlas + MTHFS + + + SwissProt + P49914 + + + + + 15q25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93562 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93562 + AFib amyloidosis + + Clinical subtype + + + Subtype of disorder + + + + 9389696[PMID] + + fibrinogen alpha chain + FGA + + + + gene with protein product + + + + ClinVar + FGA + + + Ensembl + ENSG00000171560 + + + Genatlas + FGA + + + HGNC + 3661 + + + OMIM + 134820 + + + Reactome + P02671 + + + SwissProt + P02671 + + + + + 4q31.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 598603 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598603 + Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome + + Malformation syndrome + + + Disorder + + + + 30290154[PMID] + + potassium two pore domain channel subfamily K member 4 + KCNK4 + + K2p4.1 + TRAAK + + + gene with protein product + + + + HGNC + 6279 + + + Ensembl + ENSG00000182450 + + + SwissProt + Q9NYG8 + + + Reactome + Q9NYG8 + + + IUPHAR + 516 + + + OMIM + 605720 + + + + + 11q13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 598164 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598164 + FOXG1 syndrome due to intragenic alteration + + Clinical subtype + + + Subtype of disorder + + + + 31454984[PMID] + + forkhead box G1 + FOXG1 + + brain factor 1 + BF1 + HBF-3 + HFK1 + HFK2 + HFK3 + QIN + + + gene with protein product + + + + ClinVar + FOXG1 + + + Ensembl + ENSG00000176165 + + + Genatlas + FOXG1 + + + HGNC + 3811 + + + OMIM + 164874 + + + SwissProt + P55316 + + + + + 14q12 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 93560 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93560 + AApoAI amyloidosis + + Clinical subtype + + + Subtype of disorder + + + + 19324996[PMID] + + apolipoprotein A1 + APOA1 + + + + gene with protein product + + + + Ensembl + ENSG00000118137 + + + Genatlas + APOA1 + + + HGNC + 600 + + + OMIM + 107680 + + + Reactome + P02647 + + + SwissProt + P02647 + + + ClinVar + APOA1 + + + + + 11q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93561 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93561 + ALys amyloidosis + + Clinical subtype + + + Subtype of disorder + + + + 11849445[PMID]_12675840[PMID] + + lysozyme + LYZ + + renal amyloidosis + + + gene with protein product + + + + Ensembl + ENSG00000090382 + + + Genatlas + LYZ + + + HGNC + 6740 + + + OMIM + 153450 + + + Reactome + P61626 + + + SwissProt + P61626 + + + ClinVar + LYZ + + + + + 12q15 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93571 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93571 + Dense deposit disease + + Histopathological subtype + + + Subtype of disorder + + + + 22388616[PMID]_20301598[PMID] + + complement factor H + CFH + + ARMD4 + ARMS1 + FHL1 + H factor 2 (complement) + HUS + age-related maculopathy susceptibility 1 + beta-1H + + + gene with protein product + + + + Ensembl + ENSG00000000971 + + + Genatlas + CFH + + + HGNC + 4883 + + + OMIM + 134370 + + + Reactome + P08603 + + + SwissProt + P08603 + + + ClinVar + CFH + + + + + 1q31.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23728178[PMID] + + complement factor H related 1 + CFHR1 + + CFHL + FHR1 + H36-1 + H36-2 + + + gene with protein product + + + + ClinVar + CFHR1 + + + Ensembl + ENSG00000244414 + + + Genatlas + CFHR1 + + + HGNC + 4888 + + + OMIM + 134371 + + + SwissProt + Q03591 + + + Reactome + Q03591 + + + + + 1q31.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 597201 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597201 + TRIM22-related inflammatory bowel disease + + Disease + + + Disorder + + + + 32463623[PMID]_26836588[PMID] + + tripartite motif containing 22 + TRIM22 + + RNF94 + GPSTAF50 + STAF50 + + + gene with protein product + + + + Ensembl + ENSG00000132274 + + + OMIM + 606559 + + + SwissProt + Q8IYM9 + + + HGNC + 16379 + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93474 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474 + Scheie syndrome + + Clinical subtype + + + Subtype of disorder + + + + 8680403[PMID] + + alpha-L-iduronidase + IDUA + + MPS1 + MPSI + mucopolysaccharidosis type I + + + gene with protein product + + + + ClinVar + IDUA + + + Ensembl + ENSG00000127415 + + + Genatlas + IDUA + + + HGNC + 5391 + + + OMIM + 252800 + + + Reactome + P35475 + + + SwissProt + P35475 + + + + + 4p16.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93476 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476 + Hurler-Scheie syndrome + + Clinical subtype + + + Subtype of disorder + + + + 8680403[PMID] + + alpha-L-iduronidase + IDUA + + MPS1 + MPSI + mucopolysaccharidosis type I + + + gene with protein product + + + + ClinVar + IDUA + + + Ensembl + ENSG00000127415 + + + Genatlas + IDUA + + + HGNC + 5391 + + + OMIM + 252800 + + + Reactome + P35475 + + + SwissProt + P35475 + + + + + 4p16.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93473 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 + Hurler syndrome + + Clinical subtype + + + Subtype of disorder + + + + 8680403[PMID] + + alpha-L-iduronidase + IDUA + + MPS1 + MPSI + mucopolysaccharidosis type I + + + gene with protein product + + + + ClinVar + IDUA + + + Ensembl + ENSG00000127415 + + + Genatlas + IDUA + + + HGNC + 5391 + + + OMIM + 252800 + + + Reactome + P35475 + + + SwissProt + P35475 + + + + + 4p16.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93399 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93399 + Juvenile sialidosis type 2 + + Clinical subtype + + + Subtype of disorder + + + + 19568825[PMID] + + neuraminidase 1 + NEU1 + + sialidase-1 + + + gene with protein product + + + + Genatlas + NEU1 + + + HGNC + 7758 + + + OMIM + 608272 + + + Reactome + Q99519 + + + SwissProt + Q99519 + + + Ensembl + ENSG00000204386 + + + IUPHAR + 3214 + + + ClinVar + NEU1 + + + + + 6p21.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93400 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93400 + Congenital sialidosis type 2 + + Clinical subtype + + + Subtype of disorder + + + + 14695530[PMID]_19568825[PMID] + + neuraminidase 1 + NEU1 + + sialidase-1 + + + gene with protein product + + + + Genatlas + NEU1 + + + HGNC + 7758 + + + OMIM + 608272 + + + Reactome + Q99519 + + + SwissProt + Q99519 + + + Ensembl + ENSG00000204386 + + + IUPHAR + 3214 + + + ClinVar + NEU1 + + + + + 6p21.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 599373 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599373 + STXBP1-related encephalopathy + + Disease + + + Disorder + + + + 32643187[PMID] + + syntaxin binding protein 1 + STXBP1 + + nSec1 + MUNC18-1 + UNC18 + hUNC18 + rbSec1 + syntaxin-binding protein 1 + + + gene with protein product + + + + ClinVar + STXBP1 + + + Ensembl + ENSG00000136854 + + + Genatlas + STXBP1 + + + HGNC + 11444 + + + OMIM + 602926 + + + Reactome + P61764 + + + SwissProt + P61764 + + + + + 9q34.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 599376 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599376 + Hypomyelination of early myelinating structures + + Disease + + + Disorder + + + + 26125040[PMID] + + proteolipid protein 1 + PLP1 + + GPM6C + Pelizaeus-Merzbacher disease + + + gene with protein product + + + + Ensembl + ENSG00000123560 + + + Genatlas + PLP1 + + + HGNC + 9086 + + + OMIM + 300401 + + + SwissProt + P60201 + + + ClinVar + PLP1 + + + + + Xq22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93405 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93405 + Syndactyly type 4 + + Morphological anomaly + + + Disorder + + + + + + sonic hedgehog signaling molecule + SHH + + HHG1 + MCOPCB5 + SMMCI + TPT + TPTPS + SHH signaling molecule + + + gene with protein product + + + + ClinVar + SHH + + + Ensembl + ENSG00000164690 + + + Genatlas + SHH + + + HGNC + 10848 + + + OMIM + 600725 + + + Reactome + Q15465 + + + SwissProt + Q15465 + + + + + 7q36.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24456159[PMID] + + limb development membrane protein 1 + LMBR1 + + ACHP + FLJ11665 + ZRS + + + gene with protein product + + + + ClinVar + LMBR1 + + + Ensembl 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Disease-causing germline mutation(s) in + + + Assessed + + + + 33059692[PMID] + + kininogen 1 + KNG1 + + HMWK + BK + alpha-2-thiol proteinase inhibitor + bradykinin + high-molecular-weight kininogen + + + gene with protein product + + + + ClinVar + KNG1 + + + Ensembl + ENSG00000113889 + + + Genatlas + KNG1 + + + HGNC + 6383 + + + OMIM + 612358 + + + Reactome + P01042 + + + SwissProt + P01042 + + + + + 3q27.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 33799813[PMID] + + heparan sulfate-glucosamine 3-sulfotransferase 6 + HS3ST6 + + + + gene with protein product + + + + HGNC + 14178 + + + OMIM + 619210 + + + SwissProt + Q96QI5 + + + Ensembl + ENSG00000162040 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93404 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93404 + Syndactyly type 3 + + Morphological anomaly + + + Disorder + + + + 12457340[PMID]_14729836[PMID] + + gap junction protein alpha 1 + GJA1 + + CX43 + ODD + ODOD + SDTY3 + connexin 43 + oculodentodigital dysplasia (syndactyly type III) + + + gene with protein product + + + + ClinVar + GJA1 + + + Ensembl + ENSG00000152661 + + + Genatlas + GJA1 + + + HGNC + 4274 + + + OMIM + 121014 + + + Reactome + P17302 + + + SwissProt + P17302 + + + IUPHAR + 728 + + + + + 6q22.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93406 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93406 + Syndactyly type 5 + + Morphological anomaly + + + Disorder + + + + 17236141[PMID] + + homeobox D13 + HOXD13 + + synpolydactyly + + + gene with protein product + + + + Reactome + P35453 + + + ClinVar + HOXD13 + + + Ensembl + ENSG00000128714 + + + Genatlas + HOXD13 + + + HGNC + 5136 + + + OMIM + 142989 + + + SwissProt + P35453 + + + + + 2q31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93409 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93409 + Brachydactyly-syndactyly, Zhao type + + Malformation syndrome + + + Disorder + + + + 17236141[PMID] + + homeobox D13 + HOXD13 + + synpolydactyly + + + gene with protein product + + + + Reactome + P35453 + + + ClinVar + HOXD13 + + + Ensembl + ENSG00000128714 + + + Genatlas + HOXD13 + + + HGNC + 5136 + + + OMIM + 142989 + + + SwissProt + P35453 + + + + + 2q31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 599579 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599579 + Factor V Amsterdam bleeding disorder + + Etiological subtype + + + Subtype of disorder + + + + 25634741[PMID] + + coagulation factor V + F5 + + + + gene with protein product + + + + ClinVar + F5 + + + Ensembl + ENSG00000198734 + + + Genatlas + F5 + + + HGNC + 3542 + + + IUPHAR + 2606 + + + OMIM + 612309 + + + Reactome + P12259 + + + SwissProt + P12259 + + + + + 1q24.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 93360 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93360 + Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type + + Disease + + + Disorder + + + + 22152677[PMID] + + kinesin family member 22 + KIF22 + + Kid + OBP-1 + OBP-2 + + + gene with protein product + + + + Ensembl + ENSG00000079616 + + + Genatlas + KIF22 + + + HGNC + 6391 + + + OMIM + 603213 + + + Reactome + Q14807 + + + SwissProt + Q14807 + + + ClinVar + KIF22 + + + + + 16p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93358 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93358 + Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome + + Disease + + + Disorder + + + + 19110212[PMID] + + discoidin domain receptor tyrosine kinase 2 + DDR2 + + TKT + + + gene with protein product + + + + ClinVar + DDR2 + + + Ensembl + ENSG00000162733 + + + Genatlas + DDR2 + + + HGNC + 2731 + + + IUPHAR + 1844 + + + OMIM + 191311 + + + Reactome + Q16832 + + + SwissProt + Q16832 + + + + + 1q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93357 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93357 + SPONASTRIME dysplasia + + Disease + + + Disorder + + + + 30773278[PMID]_30773277[PMID] + + tonsoku like, DNA repair protein + TONSL + + IKBR + + + gene with protein product + + + + HGNC + 7801 + + + Ensembl + ENSG00000160949 + + + SwissProt + Q96HA7 + + + OMIM + 604546 + + + + + 8q24.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 599082 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599082 + CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome + + Malformation syndrome + + + Disorder + + + + 30397230[PMID] + + chromodomain helicase DNA binding protein 3 + CHD3 + + Mi-2a + ZFH + Mi2-ALPHA + + + gene with protein product + + + + HGNC + 1918 + + + Ensembl + ENSG00000170004 + + + SwissProt + Q12873 + + + Reactome + Q12873 + + + OMIM + 602120 + + + + + 17p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93372 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93372 + Familial hypocalciuric hypercalcemia type 1 + + Etiological subtype + + + Subtype of disorder + + + + + + calcium sensing receptor + CASR + + FHH + GPRC2A + NSHPT + severe neonatal hyperparathyroidism + + + gene with protein product + + + + Ensembl + ENSG00000036828 + + + Genatlas + CASR + + + HGNC + 1514 + + + IUPHAR + 54 + + + OMIM + 601199 + + + Reactome + P41180 + + + SwissProt + P41180 + + + ClinVar + CASR + + + + + 3q13.33-q21.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 93387 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93387 + Brachydactyly type E + + Malformation 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mutation(s) in + + + Assessed + + + + + + GLI family zinc finger 2 + GLI2 + + HPE9 + THP1 + THP2 + tax helper protein 1 + tax helper protein 2 + tax-responsive element-2 holding protein + + + gene with protein product + + + + Ensembl + ENSG00000074047 + + + Genatlas + GLI2 + + + HGNC + 4318 + + + OMIM + 165230 + + + Reactome + P10070 + + + SwissProt + P10070 + + + ClinVar + GLI2 + + + + + 2q14.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + cripto, EGF-CFC family member + CRIPTO + + CR + Cripto-1 + CR-1 + + + gene with protein product + + + + Reactome + P13385 + + + SwissProt + P13385 + + + Ensembl + ENSG00000241186 + + + Genatlas + TDGF1 + + + HGNC + 11701 + + + OMIM + 187395 + + + ClinVar + TDGF1 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + forkhead box H1 + FOXH1 + + FAST1 + forkhead activin signal transducer-1 + + + gene with protein product + + + + ClinVar + FOXH1 + + + Ensembl + 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6q27 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + growth arrest specific 1 + GAS1 + + Growth arrest-specific gene-1 + + + gene with protein product + + + + ClinVar + GAS1 + + + Ensembl + ENSG00000180447 + + + Genatlas + GAS1 + + + HGNC + 4165 + + + OMIM + 139185 + + + Reactome + P54826 + + + SwissProt + P54826 + + + + + 9q21.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93921 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93921 + Full schwannomatosis + + Disease + + + Disorder + + + + 23401320[PMID] + + NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor + NF2 + + Merlin + moesin-ezrin-radixin like + schwannomin + ACN + BANF + SCH + merlin-1 + bilateral acoustic neurofibromatosis + merlin + + + gene with protein product + + + + Ensembl + ENSG00000186575 + + + Genatlas + NF2 + + + HGNC + 7773 + + + OMIM + 607379 + + + Reactome + P35240 + + + SwissProt + P35240 + + + ClinVar + NF2 + + + + + 22q12.2 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 17357086[PMID]_23401320[PMID] + + SWI/SNF related BAF chromatin remodeling complex subunit B1 + SMARCB1 + + BAF47 + Ini1 + PPP1R144 + RDT + Sfh1p + Snr1 + hSNFS + integrase interactor 1 + malignant rhabdoid tumor suppressor + protein phosphatase 1, regulatory subunit 144 + sucrose nonfermenting, yeast, homolog-like 1 + INI-1 + SNF5 + + + gene with protein product + + + + ClinVar + SMARCB1 + + + Reactome + Q12824 + + + SwissProt + Q12824 + + + Ensembl + ENSG00000099956 + + + Genatlas + SMARCB1 + + + HGNC + 11103 + + + OMIM + 601607 + + + + + 22q11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24763291[PMID] + + coenzyme Q6, monooxygenase + COQ6 + + CGI-10 + + + gene with protein product + + + + ClinVar + COQ6 + + + Ensembl + ENSG00000119723 + + + Genatlas + COQ6 + + + HGNC + 20233 + + + OMIM + 614647 + + + Reactome + Q9Y2Z9 + + + SwissProt + Q9Y2Z9 + + + + + 14q24.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 24362817[PMID] + + leucine zipper like post translational regulator 1 + LZTR1 + + BTBD29 + LZTR-1 + + + gene with protein product + + + + SwissProt + Q8N653 + + + Ensembl + ENSG00000099949 + + + Genatlas + LZTR1 + + + HGNC + 6742 + + + OMIM + 600574 + + + ClinVar + LZTR1 + + + + + 22q11.21 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 93952 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93952 + X-linked intellectual disability, Hedera type + + Disease + + + Disorder + + + + 15746149[PMID] + + ATPase H+ transporting accessory protein 2 + ATP6AP2 + + APT6M8-9 + ATP6M8-9 + M8-9 + PRR + RENR + prorenin receptor + renin receptor + (P)RR + V-ATPase M8.9 subunit + + + gene with protein product + + + + Ensembl + ENSG00000182220 + + + Genatlas + ATP6AP2 + + + HGNC + 18305 + + + OMIM + 300556 + + + Reactome + O75787 + + + SwissProt + O75787 + + + ClinVar + ATP6AP2 + + + + + Xp11.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 595109 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595109 + Atypical Timothy syndrome + + Clinical subtype + + + Subtype of disorder + + + + 34079780[PMID] + + calcium voltage-gated channel subunit alpha1 C + CACNA1C + + CACH2 + CACN2 + Cav1.2 + LQT8 + TS + + + gene with protein product + + + + ClinVar + CACNA1C + + + Ensembl + ENSG00000151067 + + + Genatlas + CACNA1C + + + HGNC + 1390 + + + IUPHAR + 529 + + + OMIM + 114205 + + + Reactome + Q13936 + + + SwissProt + Q13936 + + + + + 12p13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93950 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93950 + X-linked intellectual disability, Sutherland-Haan type + + Clinical subtype + + + Subtype of disorder + + + + + + polyglutamine binding protein 1 + PQBP1 + + + + gene with protein product + + + + Reactome + O60828 + + + Ensembl + ENSG00000102103 + + + Genatlas 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protein 1 + PQBP1 + + + + gene with protein product + + + + Reactome + O60828 + + + Ensembl + ENSG00000102103 + + + Genatlas + PQBP1 + + + HGNC + 9330 + + + OMIM + 300463 + + + SwissProt + O60828 + + + ClinVar + PQBP1 + + + + + Xp11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 595105 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595105 + Timothy syndrome type 2 + + Clinical subtype + + + Subtype of disorder + + + + 34079780[PMID] + + calcium voltage-gated channel subunit alpha1 C + CACNA1C + + CACH2 + CACN2 + Cav1.2 + LQT8 + TS + + + gene with protein product + + + + ClinVar + CACNA1C + + + Ensembl + ENSG00000151067 + + + Genatlas + CACNA1C + + + HGNC + 1390 + + + IUPHAR + 529 + + + OMIM + 114205 + + + Reactome + Q13936 + + + SwissProt + Q13936 + + + + + 12p13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93946 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93946 + Hamel cerebro-palato-cardiac syndrome + + Clinical subtype + + + Subtype of disorder + + + + + + polyglutamine binding protein 1 + PQBP1 + + + + gene with protein product + + + + Reactome + O60828 + + + Ensembl + ENSG00000102103 + + + Genatlas + PQBP1 + + + HGNC + 9330 + + + OMIM + 300463 + + + SwissProt + O60828 + + + ClinVar + PQBP1 + + + + + Xp11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93945 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93945 + X-linked intellectual disability, Porteous type + + Clinical subtype + + + Subtype of disorder + + + + + + polyglutamine binding protein 1 + PQBP1 + + + + gene with protein product + + + + Reactome + O60828 + + + Ensembl + ENSG00000102103 + + + Genatlas + PQBP1 + + + HGNC + 9330 + + + OMIM + 300463 + + + SwissProt + O60828 + + + ClinVar + PQBP1 + + + + + Xp11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93616 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93616 + Hemoglobin H disease + + Disease + + + Disorder + + + + + + hemoglobin subunit alpha 2 + HBA2 + + HBA-T2 + + + gene with protein product + + + + ClinVar + HBA2 + + + Ensembl + ENSG00000188536 + + + Genatlas + HBA2 + + + HGNC + 4824 + + + OMIM + 141850 + + + Reactome + P69905 + + + SwissProt + P69905 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + hemoglobin subunit alpha 1 + HBA1 + + HBA-T3 + + + gene with protein product + + + + ClinVar + HBA1 + + + Ensembl + ENSG00000206172 + + + Genatlas + HBA1 + + + HGNC + 4823 + + + OMIM + 141800 + + + Reactome + P69905 + + + SwissProt + P69905 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93622 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93622 + Dent disease type 1 + + Clinical subtype + + + Subtype of disorder + + + + 22876375[PMID]_21305656[PMID]_18540256[PMID] + + chloride voltage-gated channel 5 + CLCN5 + + CLC5 + ClC-5 + DENTS + Dent disease + XLRH + XRN + hCIC-K2 + hClC-K2 + + + gene with protein product + + + + Ensembl + ENSG00000171365 + + + Genatlas + CLCN5 + + + HGNC + 2023 + + + OMIM + 300008 + + + Reactome + P51795 + + + SwissProt + P51795 + + + IUPHAR + 704 + + + ClinVar + CLCN5 + + + + + Xp11.23 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 93623 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93623 + Dent disease type 2 + + Clinical subtype + + + Subtype of disorder + + + + 22876375[PMID] + + OCRL inositol polyphosphate-5-phosphatase + OCRL + + OCRL1 + Dent-2 + Dent disease 2 + + + gene with protein product + + + + IUPHAR + 1460 + + + ClinVar + OCRL + + + Ensembl + ENSG00000122126 + + + Genatlas + OCRL + + + HGNC + 8108 + + + OMIM + 300535 + + + Reactome + Q01968 + + + SwissProt + Q01968 + + + + + Xq26.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 93591 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93591 + Infantile nephronophthisis + + Clinical subtype + + + Subtype of disorder + + + + 26184788[PMID]_18371931[PMID] + + nephrocystin 3 + NPHP3 + + CFAP31 + FLJ30691 + FLJ36696 + KIAA2000 + MKS7 + Meckel syndrome, type 7 + NPH3 + SLSN3 + cilia and flagella associated protein 31 + + + gene with protein product + + + + ClinVar + NPHP3 + + + Ensembl + ENSG00000113971 + + + Genatlas + NPHP3 + + + HGNC + 7907 + + + OMIM + 608002 + + + Reactome + Q7Z494 + + + SwissProt + Q7Z494 + + + + + 3q22.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + inversin + INVS + + nephrocystin 2 + + + gene with protein product + + + + ClinVar + INVS + + + Ensembl + ENSG00000119509 + + + Genatlas + INVS + + + HGNC + 17870 + + + OMIM + 243305 + + + SwissProt + Q9Y283 + + + + + 9q31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 18199800[PMID] + + NIMA related kinase 8 + NEK8 + + NPHP9 + + + gene with protein product + + + + ClinVar + NEK8 + + + Reactome + Q86SG6 + + + Ensembl + ENSG00000160602 + + + Genatlas + NEK8 + + + HGNC + 13387 + + + IUPHAR + 2123 + + + OMIM + 609799 + + + SwissProt + Q86SG6 + + + + + 17q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21258341[PMID] + + tetratricopeptide repeat domain 21B + TTC21B + + CFAP60 + intraflagellar transport 139 homolog + Nephronophthisis type12 + IFT139 + tetratricopeptide repeat-containing hedgehog modulator-1 + FLJ11457 + IFT139B + JBTS11 + NPHP12 + THM1 + FAP60 + FLA17 + + + gene with protein product + + + + ClinVar + TTC21B + + + Ensembl + ENSG00000123607 + + + Genatlas + TTC21B + + + HGNC + 25660 + + + OMIM + 612014 + + + Reactome + Q7Z4L5 + + + SwissProt + Q7Z4L5 + + + + + 2q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23793029[PMID] + + ankyrin repeat and sterile alpha motif domain containing 6 + ANKS6 + + FLJ36928 + NPHP16 + + + gene with protein product + + + + Ensembl + ENSG00000165138 + + + Genatlas + ANKS6 + + + HGNC + 26724 + + + OMIM + 615370 + + + SwissProt + Q68DC2 + + + ClinVar + ANKS6 + + + + + 9q22.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24882706[PMID] + + centrosomal protein 83 + CEP83 + + NPHP18 + NY-REN-58 + + + gene with protein product + + + + ClinVar + CEP83 + + + Reactome + Q9Y592 + + + SwissProt + Q9Y592 + + + Ensembl + ENSG00000173588 + + + Genatlas + CEP83 + + + HGNC + 17966 + + + OMIM + 615847 + + + + + 12q22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22863007[PMID] + + zinc finger protein 423 + ZNF423 + + hOAZ + Early B-cell factor associated zinc finger protein + Ebfaz + JBTS19 + KIAA0760 + NPHP14 + OAZ + OLF-1/EBF associated zinc finger gene + Roaz + Zfp104 + Smad- and Olf-interacting zinc finger protein + early B-cell factor associated zinc finger protein + + + gene with protein product + + + + Ensembl + ENSG00000102935 + + + Genatlas + ZNF423 + + + HGNC + 16762 + + + OMIM + 604557 + + + SwissProt + Q2M1K9 + + + ClinVar + ZNF423 + + + + + 16q12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93592 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93592 + Juvenile nephronophthisis + + Clinical subtype + + + Subtype of disorder + + + + + + nephrocystin 1 + NPHP1 + + JBTS4 + SLSN1 + + + gene with protein product + + + + ClinVar + NPHP1 + + + Ensembl + ENSG00000144061 + + + Genatlas + NPHP1 + + + HGNC + 7905 + + + OMIM + 607100 + + + Reactome + O15259 + + + SwissProt + O15259 + + + + + 2q13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + nephrocystin 4 + NPHP4 + + KIAA0673 + POC10 + POC10 centriolar protein homolog (Chlamydomonas) + SLSN4 + nephroretinin + + + gene with protein product + + + + ClinVar 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+ WDR19 + + + HGNC + 18340 + + + OMIM + 608151 + + + + + 4p14 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23793029[PMID] + + ankyrin repeat and sterile alpha motif domain containing 6 + ANKS6 + + FLJ36928 + NPHP16 + + + gene with protein product + + + + Ensembl + ENSG00000165138 + + + Genatlas + ANKS6 + + + HGNC + 26724 + + + OMIM + 615370 + + + SwissProt + Q68DC2 + + + ClinVar + ANKS6 + + + + + 9q22.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 28089251[PMID] + + mitogen-activated protein kinase binding protein 1 + MAPKBP1 + + KIAA0596 + NPHP20 + + + gene with protein product + + + + ClinVar + MAPKBP1 + + + HGNC + 29536 + + + Ensembl + ENSG00000137802 + + + SwissProt + O60336 + + + OMIM + 616786 + + + Genatlas + MAPKBP1 + + + Reactome + O60336 + + + + + 15q15.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 30609407[PMID] + + ADAM metallopeptidase with thrombospondin type 1 motif 9 + ADAMTS9 + + KIAA1312 + + + gene with protein product + + + + HGNC + 13202 + + + Ensembl + ENSG00000163638 + + + SwissProt + Q9P2N4 + + + Reactome + Q9P2N4 + + + IUPHAR + 1682 + + + OMIM + 605421 + + + + + 3p14.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93589 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93589 + Late-onset nephronophthisis + + Clinical subtype + + + Subtype of disorder + + + + + + nephrocystin 3 + NPHP3 + + CFAP31 + FLJ30691 + FLJ36696 + KIAA2000 + MKS7 + Meckel syndrome, type 7 + NPH3 + SLSN3 + cilia and flagella associated protein 31 + + + gene with protein product + + + + ClinVar + NPHP3 + + + Ensembl + ENSG00000113971 + + + Genatlas + NPHP3 + + + HGNC + 7907 + + + OMIM + 608002 + + + Reactome + Q7Z494 + + + SwissProt + Q7Z494 + + + + + 3q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20179356[PMID] + + X-prolyl aminopeptidase 3 + XPNPEP3 + + APP3 + ICP55 + Intermediate Cleaving Peptidase 55 + NPHPL1 + + + gene with protein product + + + + IUPHAR + 1580 + + + Ensembl + ENSG00000196236 + + + Genatlas + XPNPEP3 + + + HGNC + 28052 + + + OMIM + 613553 + + + SwissProt + Q9NQH7 + + + ClinVar + XPNPEP3 + + + Reactome + Q9NQH7 + + + + + 22q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 28089251[PMID] + + mitogen-activated protein kinase binding protein 1 + MAPKBP1 + + KIAA0596 + NPHP20 + + + gene with protein product + + + + ClinVar + MAPKBP1 + + + HGNC + 29536 + + + Ensembl + ENSG00000137802 + + + SwissProt + O60336 + + + OMIM + 616786 + + + Genatlas + MAPKBP1 + + + Reactome + O60336 + + + + + 15q15.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 93598 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93598 + Primary hyperoxaluria type 1 + + Clinical subtype + + + Subtype of disorder + + + + + + alanine--glyoxylate aminotransferase + AGXT + + TLH6 + AGT + AGT1 + AGXT1 + L-alanine: glyoxylate aminotransferase 1 + PH1 + SPT + glycolicaciduria + oxalosis I + primary hyperoxaluria type 1 + serine:pyruvate aminotransferase + Ser-PyrAT + + + gene with protein product + + + + Ensembl + ENSG00000172482 + + + Genatlas + AGXT + + + HGNC + 341 + + + OMIM + 604285 + + + Reactome + P21549 + + + SwissProt + P21549 + + + ClinVar + AGXT + + + + + 2q37.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 596008 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596008 + Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis + + Clinical subtype + + + Subtype of disorder + + + + 20301592[PMID] + + fibroblast growth factor receptor 2 + FGFR2 + + CD332 + CEK3 + Crouzon syndrome + ECT1 + K-SAM + Pfeiffer syndrome + TK14 + TK25 + + + gene with protein product + + + + Ensembl + ENSG00000066468 + + + Genatlas + FGFR2 + + + HGNC + 3689 + + + IUPHAR + 1809 + + + OMIM + 176943 + + + Reactome + P21802 + + + SwissProt + P21802 + + + ClinVar + FGFR2 + + + + + 10q26.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93583 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93583 + Congenital thrombotic thrombocytopenic purpura + + Clinical subtype + + + Subtype of disorder + + + + 25587650[PMID] + + ADAM metallopeptidase with thrombospondin type 1 motif 13 + ADAMTS13 + + DKFZp434C2322 + FLJ42993 + MGC118899 + MGC118900 + TTP + VWFCP + vWF-CP + + + gene with protein product + + + + ClinVar + ADAMTS13 + + + Genatlas + ADAMTS13 + + + HGNC + 1366 + + + OMIM + 604134 + + + Reactome + Q76LX8 + + + SwissProt + Q76LX8 + + + IUPHAR + 1685 + + + Ensembl + ENSG00000160323 + + + + + 9q34.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 93610 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93610 + Distal renal tubular acidosis with anemia + + Clinical subtype + + + Subtype of disorder + + + + + + solute carrier family 4 member 1 (Diego blood group) + SLC4A1 + + CD233 + FR + Froese blood group + RTA1A + SW + Swann blood group + WR + Wright blood group + EMPB3 + Band 3 anion transport protein + + + gene with protein product + + + + ClinVar + SLC4A1 + + + IUPHAR + 904 + + + OMIM + 109270 + + + Reactome + P02730 + + + SwissProt + P02730 + + + Ensembl + ENSG00000004939 + + + Genatlas + SLC4A1 + + + HGNC + 11027 + + + + + 17q21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 596759 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596759 + Combined immunodeficiency due to RELA haploinsufficiency + + Disease + + + Disorder + + + + 32969189[PMID]_28600438[PMID] + + RELA proto-oncogene, NF-kB subunit + RELA + + p65 + + + gene with protein product + + + + ClinVar + RELA + + + IUPHAR + 3280 + + + Ensembl + ENSG00000173039 + + + Genatlas + RELA + + + HGNC + 9955 + + + OMIM + 164014 + + + Reactome + Q04206 + + + SwissProt + Q04206 + + + + + 11q13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93608 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93608 + Autosomal dominant distal renal tubular acidosis + + Clinical subtype + + + Subtype of disorder + + + + + + solute carrier family 4 member 1 (Diego blood group) + SLC4A1 + + CD233 + FR + Froese blood group + RTA1A + SW + Swann blood group + WR + Wright blood group + EMPB3 + Band 3 anion transport protein + + + gene with protein product + + + + ClinVar + SLC4A1 + + + IUPHAR + 904 + + + OMIM + 109270 + + + Reactome + P02730 + + + SwissProt + P02730 + + + Ensembl + ENSG00000004939 + + + Genatlas + SLC4A1 + + + HGNC + 11027 + + + + + 17q21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93607 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93607 + Autosomal recessive proximal renal tubular acidosis + + Clinical subtype + + + Subtype of disorder + + + + + + solute carrier family 4 member 4 + SLC4A4 + + HNBC1 + NBC1 + NBC2 + hhNMC + pNBC + kNBC1 + kidney type Na+/HCO3- cotransporter + NBCe1 + Electrogenic sodium bicarbonate cotransporter 1 + KNBC + pancreatic sodium bicarbonate cotransporter + + + gene with protein product + + + + IUPHAR + 908 + + + Ensembl + ENSG00000080493 + + + Genatlas + SLC4A4 + + + HGNC + 11030 + + + OMIM + 603345 + + + Reactome + Q9Y6R1 + + + SwissProt + Q9Y6R1 + + + ClinVar + SLC4A4 + + + + + 4q13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93613 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93613 + Cystinuria type B + + Etiological subtype + + + Subtype of disorder + + + + 21255007[PMID] + + solute carrier family 7 member 9 + SLC7A9 + + BAT1 + b(0,+)-type amino acid transporter 1 + + + gene with protein product + + + + ClinVar + SLC7A9 + + + IUPHAR + 900 + + + Ensembl + ENSG00000021488 + + + Genatlas + SLC7A9 + + + HGNC + 11067 + + + OMIM + 604144 + + + Reactome + P82251 + + + SwissProt + P82251 + + + + + 19q13.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93612 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93612 + Cystinuria type A + + Etiological subtype + + + Subtype of disorder + + + + 21255007[PMID] + + solute carrier family 3 member 1 + SLC3A1 + + ATR1 + CSNU1 + D2H + NBAT + RBAT + neutral and basic amino acid transport protein rBAT + amino acid transporter 1 + + + gene with protein product + + + + Ensembl + ENSG00000138079 + + + Genatlas + SLC3A1 + + + HGNC + 11025 + + + OMIM + 104614 + + + Reactome + Q07837 + + + SwissProt + Q07837 + + + ClinVar + SLC3A1 + + + IUPHAR + 889 + + + + + 2p21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93602 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93602 + Xanthinuria type II + + Etiological subtype + + + Subtype of disorder + + + + 11302742[PMID]_17368066[PMID] + + molybdenum cofactor sulfurase + MOCOS + + FLJ20733 + HMCS + MOS + human molybdenum cofactor sulfurase + MCS + + + gene with protein product + + + + Ensembl + ENSG00000075643 + + + Genatlas + MOCOS + + + HGNC + 18234 + + + OMIM + 613274 + + + Reactome + Q96EN8 + + + SwissProt + Q96EN8 + + + ClinVar + MOCOS + + + + + 18q12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93601 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93601 + Xanthinuria type I + + Etiological subtype + + + Subtype of disorder + + + + 9153281[PMID] + + xanthine dehydrogenase + XDH + + XDH/XO + xanthine oxidoreductase + XO + XOR + xanthine dehydrogenase/oxidase + xanthine oxidase + + + gene with protein product + + + + ClinVar + XDH + + + Ensembl + ENSG00000158125 + + + Genatlas + XDH + + + HGNC + 12805 + + + IUPHAR + 2646 + + + OMIM + 607633 + + + Reactome + P47989 + + + SwissProt + P47989 + + + + + 2p23.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93600 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93600 + Primary hyperoxaluria type 3 + + Clinical subtype + + + Subtype of disorder + + + + + + 4-hydroxy-2-oxoglutarate aldolase 1 + HOGA1 + + DHDPS2 + FLJ37472 + N-acetylneuraminate pyruvate lyase 2 (putative) + NPL2 + dihydrodipicolinate synthetase homolog 2 (E. coli) + + + gene with protein product + + + + Reactome + Q86XE5 + + + Ensembl + ENSG00000241935 + + + Genatlas + HOGA1 + + + HGNC + 25155 + + + OMIM + 613597 + + + SwissProt + Q86XE5 + + + ClinVar + HOGA1 + + + + + 10q24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93599 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93599 + Primary hyperoxaluria type 2 + + Clinical subtype + + + Subtype of disorder + + + + + + glyoxylate and hydroxypyruvate reductase + GRHPR + + PH2 + primary hyperoxaluria type 2 + + + gene with protein product + + + + ClinVar + GRHPR + + + Ensembl + ENSG00000137106 + + + Genatlas + GRHPR + + + HGNC + 4570 + + + OMIM + 604296 + + + Reactome + Q9UBQ7 + + + SwissProt + Q9UBQ7 + + + + + 9p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 93606 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93606 + Nephrogenic syndrome of inappropriate antidiuresis + + Disease + + + Disorder + + + + 17229917[PMID] + + arginine vasopressin receptor 2 + AVPR2 + + V2R + nephrogenic diabetes insipidus + + + gene with protein product + + + + ClinVar + AVPR2 + + + HGNC + 897 + + + IUPHAR + 368 + + + OMIM + 300538 + + + Reactome + P30518 + + + SwissProt + P30518 + + + Ensembl + ENSG00000126895 + + + Genatlas + AVPR2 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 596753 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596753 + VEXAS syndrome + + Disease + + + Disorder + + + + 33108101[PMID] + + ubiquitin like modifier activating enzyme 1 + UBA1 + + CFAP124 + POC20 + POC20 centriolar protein homolog (Chlamydomonas) + UBA1, ubiquitin-activating enzyme E1 homolog (yeast) + UBE1X + + + gene with protein product + + + + Ensembl + ENSG00000130985 + + + Genatlas + UBA1 + + + HGNC + 12469 + + + OMIM + 314370 + + + Reactome + P22314 + + + SwissProt + P22314 + + + ClinVar + UBA1 + + + + + Xp11.3 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 93605 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93605 + Bartter syndrome type 3 + + Clinical subtype + + + Subtype of disorder + + + + 24058621[PMID]_17622951[PMID] + + chloride voltage-gated channel Kb + CLCNKB + + hClC-Kb + Chloride channel protein ClC-Kb + CLCKB + ClC-K2 + ClC-Kb + + + gene with protein product + + + + IUPHAR + 701 + + + Ensembl + ENSG00000184908 + + + Genatlas + CLCNKB + + + HGNC + 2027 + + + OMIM + 602023 + + + Reactome + P51801 + + + SwissProt + P51801 + + + ClinVar + CLCNKB + + + + + 1p36.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99068 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99068 + Complete atrioventricular septal defect-tetralogy of Fallot + + Clinical subtype + + + Subtype of disorder + + + + 24702954[PMID] + + nuclear receptor subfamily 2 group F member 2 + NR2F2 + + COUPTF2 + COUP-TFII + COUPTFB + NF-E3 + SVP40 + COUP transcription factor II + + + gene with protein product + + + + Ensembl + ENSG00000185551 + + + Genatlas + NR2F2 + + + HGNC + 7976 + + + IUPHAR + 618 + + + OMIM + 107773 + + + Reactome + P24468 + + + SwissProt + P24468 + + + ClinVar + NR2F2 + + + + + 15q26.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 18672102[PMID]_17643447[PMID] + + GATA binding protein 4 + GATA4 + + + + gene with protein product + + + + ClinVar + GATA4 + + + Ensembl + ENSG00000136574 + + + Genatlas + GATA4 + + + HGNC + 4173 + + + OMIM + 600576 + + + Reactome + P43694 + + + SwissProt + P43694 + + + + + 8p23.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 12632326[PMID]_15096951[PMID] + + CRELD disulfide isomerase 1 + CRELD1 + + CIRRIN + + + gene with protein product + + + + ClinVar + CRELD1 + + + Ensembl + ENSG00000163703 + + + Genatlas + CRELD1 + + + HGNC + 14630 + + + OMIM + 607170 + + + SwissProt + Q96HD1 + + + + + 3p25.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 99067 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99067 + Complete atrioventricular septal defect with ventricular hypoplasia + + Clinical subtype + + + Subtype of disorder + + + + 24702954[PMID] + + nuclear receptor subfamily 2 group F member 2 + NR2F2 + + COUPTF2 + COUP-TFII + COUPTFB + NF-E3 + SVP40 + COUP transcription factor II + + + gene with protein product + + + + Ensembl + ENSG00000185551 + + + Genatlas + NR2F2 + + + HGNC + 7976 + + + IUPHAR + 618 + + + OMIM + 107773 + + + Reactome + P24468 + + + SwissProt + P24468 + + + ClinVar + NR2F2 + + + + + 15q26.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 20581743[PMID] + + GATA binding protein 6 + GATA6 + + + + gene with protein product + + + + Ensembl + ENSG00000141448 + + + Genatlas + GATA6 + + + HGNC + 4174 + + + OMIM + 601656 + + + Reactome + Q92908 + + + SwissProt + Q92908 + + + ClinVar + GATA6 + + + + + 18q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 12632326[PMID]_15096951[PMID] + + CRELD disulfide isomerase 1 + CRELD1 + + CIRRIN + + + gene with protein product + + + + ClinVar + CRELD1 + + + Ensembl + ENSG00000163703 + + + Genatlas + CRELD1 + + + HGNC + 14630 + + + OMIM + 607170 + + + SwissProt + Q96HD1 + + + + + 3p25.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 18672102[PMID]_17643447[PMID] + + GATA binding protein 4 + GATA4 + + + + gene with protein product + + + + ClinVar + GATA4 + + + Ensembl + ENSG00000136574 + + + Genatlas + GATA4 + + + HGNC + 4173 + + + OMIM + 600576 + + + Reactome + P43694 + + + SwissProt + P43694 + + + + + 8p23.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99106 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99106 + Atrial septal defect, ostium primum type + + Clinical subtype + + + Subtype of disorder + + + + 18830233[PMID] + + tolloid like 1 + TLL1 + + + + gene with protein product + + + + Ensembl + ENSG00000038295 + + + Genatlas + TLL1 + + + HGNC + 11843 + + + OMIM + 606742 + + + Reactome + O43897 + + + SwissProt + O43897 + + + ClinVar + TLL1 + + + + + 4q32.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99105 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99105 + Atrial septal defect, sinus venosus type + + Clinical subtype + + + Subtype of disorder + + + + 16287139[PMID] + + Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 + CITED2 + + MRG1 + + + gene with protein product + + + + ClinVar + CITED2 + + + Ensembl + ENSG00000164442 + + + Genatlas + CITED2 + + + HGNC + 1987 + + + OMIM + 602937 + + + Reactome + Q99967 + + + SwissProt + Q99967 + + + + + 6q24.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99103 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99103 + Atrial septal defect, ostium secundum type + + Clinical subtype + + + Subtype of disorder + + + + 17947298[PMID] + + actin alpha cardiac muscle 1 + ACTC1 + + CMD1R + + + gene with protein product + + + + ClinVar + ACTC1 + + + Ensembl + ENSG00000159251 + + + Genatlas + ACTC1 + + + HGNC + 143 + + + OMIM + 102540 + + + Reactome + P68032 + + + SwissProt + P68032 + + + + + 15q14 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 12845333[PMID]_15810002[PMID]_20347099[PMID] + + GATA binding protein 4 + GATA4 + + + + gene with protein product + + + + ClinVar + GATA4 + + + Ensembl + ENSG00000136574 + + + Genatlas + GATA4 + + + HGNC + 4173 + + + OMIM + 600576 + + + Reactome + P43694 + + + SwissProt + P43694 + + + + + 8p23.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 15735645[PMID] + + myosin heavy chain 6 + MYH6 + + cardiomyopathy, hypertrophic 1 + + + gene with protein product + + + + ClinVar + MYH6 + + + Ensembl + ENSG00000197616 + + + Genatlas + MYH6 + + + HGNC + 7576 + + + OMIM + 160710 + + + Reactome + P13533 + + + SwissProt + P13533 + + + + + 14q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21285290[PMID]_15810002[PMID] + + NK2 homeobox 5 + NKX2-5 + + tinman paralog (Drosophila) + CSX1 + NKX2.5 + NKX4-1 + tinman (Drosophila) homolog + + + gene with protein product + + + + Reactome + P52952 + + + SwissProt + P52952 + + + Ensembl + ENSG00000183072 + + + Genatlas + NKX2-5 + + + HGNC + 2488 + + + OMIM + 600584 + + + ClinVar + NKX2-5 + + + + + 5q35.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 19762328[PMID] + + T-box transcription factor 20 + 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10443680[PMID] + + neurotrophic receptor tyrosine kinase 1 + NTRK1 + + MTC + TRK + TRKA + high affinity nerve growth factor receptor + tropomyosin receptor kinase A + + + gene with protein product + + + + ClinVar + NTRK1 + + + Ensembl + ENSG00000198400 + + + Genatlas + NTRK1 + + + HGNC + 8031 + + + IUPHAR + 1817 + + + OMIM + 191315 + + + Reactome + P04629 + + + SwissProt + P04629 + + + + + 1q23.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 10443680[PMID]_20833330[PMID]_20301434[PMID] + + ret proto-oncogene + RET + + CDHF12 + CDHR16 + PTC + RET receptor tyrosine kinase + RET51 + cadherin-related family member 16 + rearranged during transfection + + + gene with protein product + + + + ClinVar + RET + + + Ensembl + ENSG00000165731 + + + Genatlas + RET + + + HGNC + 9967 + + + IUPHAR + 2185 + + + OMIM + 164761 + + + SwissProt + P07949 + + + Reactome + P07949 + + + + + 10q11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99657 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99657 + Primary dystonia, DYT2 type + + Disease + + + Disorder + + + + 25799108[PMID] + + hippocalcin + HPCA + + + + gene with protein product + + + + Ensembl + ENSG00000121905 + + + Genatlas + HPCA + + + HGNC + 5144 + + + OMIM + 142622 + + + SwissProt + P84074 + + + Reactome + P84074 + + + ClinVar + HPCA + + + + + 1p35.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99429 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99429 + Complete androgen insensitivity syndrome + + Disease + + + Disorder + + + + 20301602[PMID] + + androgen receptor + AR + + AIS + HUMARA + Kennedy disease + NR3C4 + SMAX1 + testicular feminization + + + gene with protein product + + + + Ensembl + ENSG00000169083 + + + Genatlas + AR + + + HGNC + 644 + + + IUPHAR + 628 + + + OMIM + 313700 + + + Reactome + P10275 + + + SwissProt + P10275 + + + ClinVar + AR + + + + + Xq12 + 1 + + + + + Disease-causing 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Reactome + Q92793 + + + ClinVar + CREBBP + + + SwissProt + Q92793 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 592564 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592564 + GNAO1-related developmental delay-seizures-movement disorder spectrum + + Disease + + + Disorder + + + + 29758257[PMID] + + G protein subunit alpha o1 + GNAO1 + + G-ALPHA-o + + + gene with protein product + + + + HGNC + 4389 + + + OMIM + 139311 + + + Reactome + P09471 + + + SwissProt + P09471 + + + ClinVar + GNAO1 + + + Ensembl + ENSG00000087258 + + + Genatlas + GNAO1 + + + + + 16q13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 592570 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592570 + TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome + + Malformation syndrome + + + Disorder + + + + 29961569[PMID] + + TNF receptor associated factor 7 + TRAF7 + 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oxidoreductase core subunit 6 + MT-ND6 + + NAD6 + NADH-ubiquinone oxidoreductase chain 6 + ND6 + complex I ND6 subunit + + + gene with protein product + + + + ClinVar + MT-ND6 + + + Ensembl + ENSG00000198695 + + + Genatlas + MT-ND6 + + + HGNC + 7462 + + + OMIM + 516006 + + + Reactome + P03923 + + + SwissProt + P03923 + + + + + mitochondria + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 19458970[PMID] + + mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 + MT-ND3 + + NAD3 + NADH-ubiquinone oxidoreductase chain 3 + ND3 + complex I ND3 subunit + + + gene with protein product + + + + Ensembl + ENSG00000198840 + + + Genatlas + MT-ND3 + + + HGNC + 7458 + + + OMIM + 516002 + + + Reactome + P03897 + + + SwissProt + P03897 + + + ClinVar + MT-ND3 + + + + + mitochondria + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99725 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99725 + Pituitary gigantism + 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589821 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589821 + Congenital-onset Steinert myotonic dystrophy + + Clinical subtype + + + Subtype of disorder + + + + 31326502[PMID] + + DM1 protein kinase + DMPK + + Myotonin-protein kinase + DM protein kinase + DM1PK + DMK + MDPK + MT-PK + dystrophia myotonica 1 + myotonic dystrophy associated protein kinase + myotonin protein kinase A + thymopoietin homolog + + + gene with protein product + + + + ClinVar + DMPK + + + Ensembl + ENSG00000104936 + + + Genatlas + DMPK + + + HGNC + 2933 + + + IUPHAR + 1505 + + + OMIM + 605377 + + + Reactome + Q09013 + + + SwissProt + Q09013 + + + + + 19q13.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 589827 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589827 + Juvenile-onset Steinert myotonic dystrophy + + Clinical subtype + + + Subtype of disorder + + + + 31326502[PMID] + + DM1 protein kinase + DMPK + + Myotonin-protein kinase + DM protein kinase + DM1PK + DMK + MDPK + MT-PK + dystrophia myotonica 1 + myotonic dystrophy associated protein kinase + myotonin protein kinase A + thymopoietin homolog + + + gene with protein product + + + + ClinVar + DMPK + + + Ensembl + ENSG00000104936 + + + Genatlas + DMPK + + + HGNC + 2933 + + + IUPHAR + 1505 + + + OMIM + 605377 + + + Reactome + Q09013 + + + SwissProt + Q09013 + + + + + 19q13.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 589824 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589824 + Childhood-onset Steinert myotonic dystrophy + + Clinical subtype + + + Subtype of disorder + + + + 31326502[PMID] + + DM1 protein kinase + DMPK + + Myotonin-protein kinase + DM protein kinase + DM1PK + DMK + MDPK + MT-PK + dystrophia myotonica 1 + myotonic dystrophy associated protein kinase + myotonin protein kinase A + thymopoietin homolog + + + gene with protein product + + + + ClinVar + DMPK + + + Ensembl + ENSG00000104936 + + + Genatlas + DMPK + + + HGNC + 2933 + + + IUPHAR + 1505 + + + OMIM + 605377 + + + Reactome + Q09013 + + + SwissProt + Q09013 + + + + + 19q13.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 589833 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589833 + Late-onset Steinert myotonic dystrophy + + Clinical subtype + + + Subtype of disorder + + + + 31326502[PMID] + + DM1 protein kinase + DMPK + + Myotonin-protein kinase + DM protein kinase + DM1PK + DMK + MDPK + MT-PK + dystrophia myotonica 1 + myotonic dystrophy associated protein kinase + myotonin protein kinase A + thymopoietin homolog + + + gene with protein product + + + + ClinVar + DMPK + + + Ensembl + ENSG00000104936 + + + Genatlas + DMPK + + + HGNC + 2933 + + + IUPHAR + 1505 + + + OMIM + 605377 + + + Reactome + Q09013 + + + SwissProt + Q09013 + + + + + 19q13.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 589830 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589830 + Adult-onset Steinert myotonic dystrophy + + Clinical subtype + + + Subtype of disorder + + + + 31326502[PMID] + + DM1 protein kinase + DMPK + + Myotonin-protein kinase + DM protein kinase + DM1PK + DMK + MDPK + MT-PK + dystrophia myotonica 1 + myotonic dystrophy associated protein kinase + myotonin protein kinase A + thymopoietin homolog + + + gene with protein product + + + + ClinVar + DMPK + + + Ensembl + ENSG00000104936 + + + Genatlas + DMPK + + + HGNC + 2933 + + + IUPHAR + 1505 + + + OMIM + 605377 + + + Reactome + Q09013 + + + SwissProt + Q09013 + + + + + 19q13.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99704 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99704 + Early-onset obesity-hyperphagia-severe developmental delay syndrome + + Disease + + + Disorder + + + + 613886[PMID] + + neurotrophic receptor tyrosine kinase 2 + NTRK2 + + TRKB + BDNF/NT-3 growth factors receptor + + + gene with protein product + + + + Genatlas + NTRK2 + + + HGNC + 8032 + + + IUPHAR + 1818 + + + OMIM + 600456 + + + Reactome + Q16620 + + + SwissProt + Q16620 + + + Ensembl + ENSG00000148053 + + + ClinVar + NTRK2 + + + + + 9q21.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 589905 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589905 + PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome + + Disease + + + Disorder + + + + 29209020[PMID] + + PHIP subunit of CUL4-Ring ligase complex + PHIP + + RepID + FLJ20705 + DCAF14 + ndrp + BRWD2 + DDB1 and CUL4 associated factor 14 + + + gene with protein product + + + + SwissProt + Q8WWQ0 + + + ClinVar + PHIP + + + Genatlas + PHIP + + + OMIM + 612870 + + + IUPHAR + 2776 + + + HGNC + 15673 + + + Ensembl + ENSG00000146247 + + + + + 6q14.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 589856 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589856 + Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome + + Malformation syndrome + + + Disorder + + + + 31949313[PMID] + + lysine methyltransferase 2D + KMT2D + + histone-lysine N-methyltransferase 2D + ALR + CAGL114 + MLL4 + ALL1-related + + + gene with protein product + + + + Ensembl + ENSG00000167548 + + + HGNC + 7133 + + + OMIM + 602113 + + + Reactome + O14686 + + + SwissProt + O14686 + + + Genatlas + KMT2D + + + ClinVar + KMT2D + + + IUPHAR + 2691 + + + + + 12q13.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99749 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99749 + Kostmann syndrome + + Disease + + + Disorder + + + + 17187068[PMID] + + HCLS1 associated protein X-1 + HAX1 + + HCLS1 (and PKD2) associated protein + HCLSBP1 + HS1BP1 + HAX-1 + + + gene with protein product + + + + Reactome + O00165 + + + ClinVar + HAX1 + + + Ensembl + ENSG00000143575 + + + Genatlas + HAX1 + + + HGNC + 16915 + + + OMIM + 605998 + + + SwissProt + O00165 + + + + + 1q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99757 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99757 + Embryonal rhabdomyosarcoma + + Clinical subtype + + + Subtype of disorder + + + + 9520460[PMID] + + solute carrier family 67 member 1 + SLC67A1 + + BWR1A + ITM + TSSC5 + organic cation transporter like 2 + imprinted multi-membrane-spanning polyspecific transporter-like gene 1 + + + gene with protein product + + + + Ensembl + ENSG00000110628 + + + Genatlas + SLC22A18 + + + HGNC + 10964 + + + IUPHAR + 1036 + + + OMIM + 602631 + + + Reactome + Q96BI1 + + + SwissProt + Q96BI1 + + + ClinVar + SLC22A18 + + + + + 11p15.4 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 7706467[PMID] + + tumor protein p53 + TP53 + + LFS1 + Li-Fraumeni syndrome + P53 + p53 + + + gene with protein product + + + + Ensembl + ENSG00000141510 + + + Genatlas + TP53 + + + HGNC + 11998 + + + OMIM + 191170 + + + Reactome + P04637 + + + SwissProt + P04637 + + + ClinVar + TP53 + + + + + 17p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 34166060[PMID] + + neurofibromin 1 + NF1 + + Watson disease + neurofibromatosis + von Recklinghausen disease + + + gene with protein product + + + + Ensembl + ENSG00000196712 + + + Genatlas + NF1 + + + HGNC + 7765 + + + OMIM + 613113 + + + ClinVar + NF1 + + + Reactome + P21359 + + + SwissProt + P21359 + + + + + 17q11.2 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 22180160[PMID] + + dicer 1, ribonuclease III + DICER1 + + Dicer + HERNA + K12H4.8-LIKE + KIAA0928 + dicer 1, double-stranded RNA-specific endoribonuclease + + + gene with protein product + + + + ClinVar + DICER1 + + + Ensembl + ENSG00000100697 + + + Genatlas + DICER1 + + + HGNC + 17098 + + + OMIM + 606241 + + + Reactome + Q9UPY3 + + + SwissProt + Q9UPY3 + + + + + 14q32.13 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 99756 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99756 + Alveolar rhabdomyosarcoma + + Clinical subtype + + + Subtype of disorder + + + + + + forkhead box O1 + FOXO1 + + FKH1 + + + gene with protein product + + + + ClinVar + FOXO1 + + + Ensembl + ENSG00000150907 + + + Genatlas + FOXO1 + + + HGNC + 3819 + + + OMIM + 136533 + + + Reactome + Q12778 + + + SwissProt + Q12778 + + + + + 13q14.11 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + paired box 3 + PAX3 + + HUP2 + PAX-3 + + + gene with protein product + + + + Ensembl + ENSG00000135903 + + + Genatlas + PAX3 + + + HGNC + 8617 + + + OMIM + 606597 + + + Reactome + P23760 + + + SwissProt + P23760 + + + ClinVar + PAX3 + + + + + 2q36.1 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + paired box 7 + PAX7 + + Hup1 + + + gene with protein product + + + + SwissProt + P23759 + + + Ensembl + ENSG00000009709 + + + Genatlas + PAX7 + + + HGNC + 8621 + + + OMIM + 167410 + + + ClinVar + PAX7 + + + + + 1p36.13 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 34166060[PMID] + + neurofibromin 1 + NF1 + + Watson disease + neurofibromatosis + von Recklinghausen disease + + + gene with protein product + + + + Ensembl + ENSG00000196712 + + + Genatlas + NF1 + + + HGNC + 7765 + + + OMIM + 613113 + + + ClinVar + NF1 + + + Reactome + P21359 + + + SwissProt + P21359 + + + + + 17q11.2 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 7706467[PMID] + + tumor protein p53 + TP53 + + LFS1 + Li-Fraumeni syndrome + P53 + p53 + + + gene with protein product + + + + Ensembl + ENSG00000141510 + + + Genatlas + TP53 + + + HGNC + 11998 + + + OMIM + 191170 + + + Reactome + P04637 + + + SwissProt + P04637 + + + ClinVar + TP53 + + + + + 17p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99734 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99734 + Myotonia fluctuans + + Disease + + + Disorder + + + + 7980103[PMID]_8308722[PMID] + + sodium voltage-gated channel alpha subunit 4 + SCN4A + + HYPP + Nav1.4 + SkM1 + + + gene with protein product + + + + ClinVar + SCN4A + + + Genatlas + SCN4A + + + HGNC + 10591 + + + IUPHAR + 581 + + + OMIM + 603967 + + + Reactome + P35499 + + + SwissProt + P35499 + + + Ensembl + ENSG00000007314 + + + + + 17q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99731 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99731 + Isolated sulfite oxidase deficiency + + Clinical subtype + + + Subtype of disorder + + + + + + sulfite oxidase + SUOX + + + + gene with protein product + + + + Ensembl + ENSG00000139531 + + + Genatlas + SUOX + + + HGNC + 11460 + + + OMIM + 606887 + + + Reactome + P51687 + + + SwissProt + P51687 + + + ClinVar + SUOX + + + + + 12q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99735 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99735 + Myotonia permanens + + Disease + + + Disorder + + + + 8308722[PMID] + + sodium voltage-gated channel alpha subunit 4 + SCN4A + + HYPP + Nav1.4 + SkM1 + + + gene with protein product + + + + ClinVar + SCN4A + + + Genatlas + SCN4A + + + HGNC + 10591 + + + IUPHAR + 581 + + + OMIM + 603967 + + + Reactome + P35499 + + + SwissProt + P35499 + + + Ensembl + ENSG00000007314 + + + + + 17q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99736 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99736 + Acetazolamide-responsive myotonia + + Disease + + + Disorder + + + + 8058156[PMID] + + sodium voltage-gated channel alpha subunit 4 + SCN4A + + HYPP + Nav1.4 + SkM1 + + + gene with protein product + + + + ClinVar + SCN4A + + + Genatlas + SCN4A + + + HGNC + 10591 + + + IUPHAR + 581 + + + OMIM + 603967 + + + Reactome + P35499 + + + SwissProt + P35499 + + + Ensembl + ENSG00000007314 + + + + + 17q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99741 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99741 + King-Denborough syndrome + + Malformation syndrome + + + Disorder + + + + 21514828[PMID]_18765655[PMID] + + ryanodine receptor 1 + RYR1 + + PPP1R137 + RYR + protein phosphatase 1, regulatory subunit 137 + + + gene with protein product + + + + ClinVar + RYR1 + + + Ensembl + ENSG00000196218 + + + Genatlas + RYR1 + + + HGNC + 10483 + + + IUPHAR + 747 + + + OMIM + 180901 + + + Reactome + P21817 + + + SwissProt + P21817 + + + + + 19q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99742 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99742 + Amish lethal microcephaly + + Malformation syndrome + + + Disorder + + + + 20301539[PMID] + + solute carrier family 25 member 19 + SLC25A19 + + DNC + MUP1 + TPC + Mitochondrial thiamine pyrophosphate carrier + mitochondrial uncoupling protein 1 + Deoxynucleotide carrier + + + gene with protein product + + + + Genatlas + SLC25A19 + + + HGNC + 14409 + + + OMIM + 606521 + + + SwissProt + Q9HC21 + + + ClinVar + SLC25A19 + + + Ensembl + ENSG00000125454 + + + IUPHAR + 1073 + + + Reactome + Q9HC21 + + + + + 17q25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98820 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98820 + Familial focal epilepsy with variable foci + + Disease + + + Disorder + + + + 23542697[PMID]_23542701[PMID] + + DEP domain containing 5, GATOR1 subcomplex subunit + DEPDC5 + + DEP.5 + KIAA0645 + + + gene with protein product + + + + Ensembl + ENSG00000100150 + + + Genatlas + DEPDC5 + + + HGNC + 18423 + + + OMIM + 614191 + + + SwissProt + O75140 + + + ClinVar + DEPDC5 + + + + + 22q12.2-q12.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 26505888[PMID]_27173016[PMID] + + NPR2 like, GATOR1 complex subunit + NPRL2 + + NPR2 + NPR2L + + + gene with protein product + + + + OMIM + 607072 + + + Genatlas + TUSC4 + + + ClinVar + TUSC4 + + + SwissProt + Q8WTW4 + + + Ensembl + ENSG00000114388 + + + HGNC + 24969 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 26505888[PMID]_27173016[PMID] + + NPR3 like, GATOR1 complex subunit + NPRL3 + + RMD11 + CGTHBA + conserved gene telomeric to alpha globin cluster + HS-40 + MARE + NPR3 + + + gene with protein product + + + + HGNC + 14124 + + + OMIM + 600928 + + + Genatlas + CGTHBA + + + Ensembl + ENSG00000103148 + + + SwissProt + Q12980 + + + ClinVar + CGTHBA + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 29466837[PMID] + + sodium voltage-gated channel alpha subunit 3 + SCN3A + + Nav1.3 + + + gene with protein product + + + + OMIM + 182391 + + + IUPHAR + 580 + + 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inhibitor of nuclear factor kappa B kinase regulatory subunit gamma + IKBKG + + FIP-3 + FIP3 + Fip3p + IKK-gamma + NEMO + ZC2HC9 + IkB kinase-associated protein 1 + IkB kinase subunit gamma + NF-kappa-B essential modulator + IKKG + IKKAP1 + I-kappa-B kinase subunit gamma + 14.7K (adenovirus E3 protein) interacting protein 3 + + + gene with protein product + + + + ClinVar + IKBKG + + + Ensembl + ENSG00000269335 + + + Genatlas + IKBKG + + + HGNC + 5961 + + + OMIM + 300248 + + + Reactome + Q9Y6K9 + + + SwissProt + Q9Y6K9 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 18412279[PMID] + + NFKB inhibitor alpha + NFKBIA + + IKBA + IkappaBalpha + MAD-3 + NF-kappa-B inhibitor alpha + + + gene with protein product + + + + Ensembl + ENSG00000100906 + + + Genatlas + NFKBIA + + + HGNC + 7797 + + + OMIM + 164008 + + + Reactome + P25963 + + + SwissProt + P25963 + + + ClinVar + NFKBIA + + + + + 14q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98811 + Paroxysmal exertion-induced dyskinesia + + Disease + + + Disorder + + + + + + solute carrier family 2 member 1 + SLC2A1 + + DYT18 + DYT9 + GLUT-1 + dystonia gene 18 + dystonia gene 9 + + + gene with protein product + + + + ClinVar + SLC2A1 + + + IUPHAR + 875 + + + Ensembl + ENSG00000117394 + + + Genatlas + SLC2A1 + + + HGNC + 11005 + + + OMIM + 138140 + + + Reactome + P11166 + + + SwissProt + P11166 + + + + + 1p34.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22902309[PMID]_22209761[PMID]_23398397[PMID] + + proline rich transmembrane protein 2 + PRRT2 + + interferon induced transmembrane protein domain containing 1 + dispanin subfamily B member 3 + DKFZp547J199 + DSPB3 + EKD1 + FICCA + FLJ25513 + IFITMD1 + Interferon induced transmembrane protein domain containing 1 + PKC + Paroxysmal kinesigenic dyskinesia + Episodic kinesigenic dyskinesia 1 + + + gene with protein product + + + + Ensembl + ENSG00000167371 + + + Genatlas + PRRT2 + + + HGNC + 30500 + + + OMIM + 614386 + + + SwissProt + Q7Z6L0 + + + ClinVar + PRRT2 + + + + + 16p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98810 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98810 + Paroxysmal non-kinesigenic dyskinesia + + Disease + + + Disorder + + + + + + PNKD metallo-beta-lactamase domain containing + PNKD + + BRP17 + DKFZp564N1362 + DYT8 + FKSG19 + FPD1 + KIAA1184 + KIPP1184 + MGC31943 + MR-1 + PDC + PKND1 + TAHCCP2 + myofibrillogenesis regulator 1 + MR-1S + + + gene with protein product + + + + ClinVar + PNKD + + + Reactome + Q8N490 + + + Ensembl + ENSG00000127838 + + + Genatlas + PNKD + + + HGNC + 9153 + + + OMIM + 609023 + + + SwissProt + Q8N490 + + + + + 2q35 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22902309[PMID]_22209761[PMID]_23398397[PMID] + + proline rich transmembrane protein 2 + PRRT2 + + interferon induced transmembrane protein domain containing 1 + dispanin subfamily B member 3 + DKFZp547J199 + DSPB3 + EKD1 + FICCA + FLJ25513 + IFITMD1 + Interferon induced transmembrane protein domain containing 1 + PKC + Paroxysmal kinesigenic dyskinesia + Episodic kinesigenic dyskinesia 1 + + + gene with protein product + + + + Ensembl + ENSG00000167371 + + + Genatlas + PRRT2 + + + HGNC + 30500 + + + OMIM + 614386 + + + SwissProt + Q7Z6L0 + + + ClinVar + PRRT2 + + + + + 16p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98809 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98809 + Paroxysmal kinesigenic dyskinesia + + Disease + + + Disorder + + + + 23398397[PMID] + + proline rich transmembrane protein 2 + PRRT2 + + interferon induced transmembrane protein domain containing 1 + dispanin subfamily B member 3 + DKFZp547J199 + DSPB3 + EKD1 + FICCA + FLJ25513 + IFITMD1 + Interferon induced transmembrane protein domain containing 1 + PKC + Paroxysmal kinesigenic dyskinesia + Episodic kinesigenic dyskinesia 1 + + + gene with protein product + + + + Ensembl + ENSG00000167371 + + + Genatlas + PRRT2 + + + HGNC + 30500 + + + OMIM + 614386 + + + SwissProt + Q7Z6L0 + + + ClinVar + PRRT2 + + + + + 16p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 29294000[PMID] + + potassium voltage-gated channel subfamily A member 1 + KCNA1 + + HUK1 + Kv1.1 + MBK1 + RBK1 + + + gene with protein product + + + + Ensembl + ENSG00000111262 + + + Genatlas + KCNA1 + + + HGNC + 6218 + + + IUPHAR + 538 + + + OMIM + 176260 + + + Reactome + Q09470 + + + SwissProt + Q09470 + + + ClinVar + KCNA1 + + + + + 12p13.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 38979912[PMID] + + potassium inwardly rectifying channel subfamily J member 10 + KCNJ10 + + Kir1.2 + Kir4.1 + + + gene with protein product + + + + ClinVar + KCNJ10 + + + Ensembl + ENSG00000177807 + + + Genatlas + KCNJ10 + + + HGNC + 6256 + + + IUPHAR + 438 + + + OMIM + 602208 + + + Reactome + P78508 + + + SwissProt + P78508 + + + + + 1q23.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98808 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98808 + Autosomal dominant dopa-responsive dystonia + + Disease + + + Disorder + + + + + + GTP cyclohydrolase 1 + GCH1 + + DYT5a + GTPCH1 + dopa-responsive dystonia + GTP cyclohydrolase I + + + gene with protein product + + + + ClinVar + GCH1 + + + Ensembl + ENSG00000131979 + + + Genatlas + GCH1 + + + HGNC + 4193 + + + OMIM + 600225 + + + Reactome + P30793 + + + SwissProt + P30793 + + + + + 14q22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 31922365[PMID] + + nuclear receptor subfamily 4 group A member 2 + NR4A2 + + TINUR + NOT + RNR1 + HZF-3 + + + gene with protein product + + + + HGNC + 7981 + + + Ensembl + ENSG00000153234 + + + SwissProt + P43354 + + + Reactome + P43354 + + 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transcription repressor + BCL6 + + BCL5 + BCL6A + LAZ3 + ZBTB27 + + + gene with protein product + + + + ClinVar + BCL6 + + + Reactome + P41182 + + + IUPHAR + 2957 + + + Ensembl + ENSG00000113916 + + + Genatlas + BCL6 + + + HGNC + 1001 + + + OMIM + 109565 + + + SwissProt + P41182 + + + + + 3q27.3 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 27312795[PMID] + + exportin 1 + XPO1 + + CRM1 + emb + CRM-1 + chromosome region maintenance 1 homolog (yeast) + + + gene with protein product + + + + HGNC + 12825 + + + Genatlas + XPO1 + + + IUPHAR + 3014 + + + SwissProt + O14980 + + + OMIM + 602559 + + + ClinVar + XPO1 + + + Ensembl + ENSG00000082898 + + + Reactome + O14980 + + + + + 2p15 + 1 + + + + + Candidate gene tested in + + + Assessed + + + + + + 98835 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98835 + Acute undifferentiated leukemia + + Disease + + + Disorder + + + + 11579461[PMID] + + lysine methyltransferase 2A + KMT2A + + HTRX + ALL1 + ALL-1 + CXXC7 + HRX + HTRX1 + MLL1A + TRX1 + MLL1 + Histone-lysine N-methyltransferase 2A + + + gene with protein product + + + + ClinVar + KMT2A + + + IUPHAR + 2688 + + + Ensembl + ENSG00000118058 + + + Genatlas + KMT2A + + + HGNC + 7132 + + + OMIM + 159555 + + + Reactome + Q03164 + + + SwissProt + Q03164 + + + + + 11q23.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 98833 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98833 + Acute myeloblastic leukemia without maturation + + Disease + + + Disorder + + + + 22338050[PMID] + + fms related receptor tyrosine kinase 3 + FLT3 + + CD135 + FLK2 + STK1 + + + gene with protein product + + + + Ensembl + ENSG00000122025 + + + Genatlas + FLT3 + + + HGNC + 3765 + + + IUPHAR + 1807 + + + OMIM + 136351 + + + Reactome + P36888 + + + ClinVar + FLT3 + + + SwissProt + P36888 + + + + + 13q12.2 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 22338050[PMID] + + nucleophosmin 1 + NPM1 + + B23 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98831 + Acute myeloid leukemia with 11q23 abnormalities + + Disease + + + Disorder + + + + + + lysine methyltransferase 2A + KMT2A + + HTRX + ALL1 + ALL-1 + CXXC7 + HRX + HTRX1 + MLL1A + TRX1 + MLL1 + Histone-lysine N-methyltransferase 2A + + + gene with protein product + + + + ClinVar + KMT2A + + + IUPHAR + 2688 + + + Ensembl + ENSG00000118058 + + + Genatlas + KMT2A + + + HGNC + 7132 + + + OMIM + 159555 + + + Reactome + Q03164 + + + SwissProt + Q03164 + + + + + 11q23.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 98832 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98832 + Acute myeloid leukemia with minimal differentiation + + Disease + + + Disorder + + + + 22338050[PMID] + + fms related receptor tyrosine kinase 3 + FLT3 + + CD135 + FLK2 + STK1 + + + gene with protein product + + + + Ensembl + ENSG00000122025 + + + Genatlas + FLT3 + + + HGNC + 3765 + + + IUPHAR + 1807 + + + OMIM + 136351 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P35749 + + + SwissProt + P35749 + + + + + 16p13.11 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 19357394[PMID] + + core-binding factor subunit beta + CBFB + + PEBP2B + + + gene with protein product + + + + Reactome + Q13951 + + + ClinVar + CBFB + + + Ensembl + ENSG00000067955 + + + Genatlas + CBFB + + + HGNC + 1539 + + + OMIM + 121360 + + + SwissProt + Q13951 + + + + + 16q22.1 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 23783394[PMID]_24226631[PMID] + + KIT proto-oncogene, receptor tyrosine kinase + KIT + + C-Kit + CD117 + SCFR + mast/stem cell growth factor receptor Kit + + + gene with protein product + + + + ClinVar + KIT + + + Ensembl + ENSG00000157404 + + + Genatlas + KIT + + + HGNC + 6342 + + + IUPHAR + 1805 + + + OMIM + 164920 + + + Reactome + P10721 + + + SwissProt + P10721 + + + + + 4q12 + 1 + + + + + Biomarker tested in + + + Assessed + + + + + + 98826 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98826 + Myelodysplastic 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nuclear envelope spectrin repeat-2 + nucleus and actin connecting element + + + gene with protein product + + + + ClinVar + SYNE2 + + + Genatlas + SYNE2 + + + HGNC + 17084 + + + OMIM + 608442 + + + Reactome + Q8WXH0 + + + SwissProt + Q8WXH0 + + + Ensembl + ENSG00000054654 + + + + + 14q23.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Not yet assessed + + + + + + 98850 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98850 + Aggressive systemic mastocytosis + + Disease + + + Disorder + + + + 19262599[PMID] + + tet methylcytosine dioxygenase 2 + TET2 + + FLJ20032 + ten-eleven translocation 2 + + + gene with protein product + + + + ClinVar + TET2 + + + Ensembl + ENSG00000168769 + + + Genatlas + TET2 + + + HGNC + 25941 + + + OMIM + 612839 + + + Reactome + Q6N021 + + + SwissProt + Q6N021 + + + + + 4q24 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 26464169[PMID] + + serine and arginine rich splicing factor 2 + SRSF2 + + SC35 + PR264 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Disease-causing somatic mutation(s) in + + + Assessed + + + + 25567135[PMID] + + tet methylcytosine dioxygenase 2 + TET2 + + FLJ20032 + ten-eleven translocation 2 + + + gene with protein product + + + + ClinVar + TET2 + + + Ensembl + ENSG00000168769 + + + Genatlas + TET2 + + + HGNC + 25941 + + + OMIM + 612839 + + + Reactome + Q6N021 + + + SwissProt + Q6N021 + + + + + 4q24 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 25567135[PMID] + + serine and arginine rich splicing factor 2 + SRSF2 + + SC35 + PR264 + SFRS2A + SC-35 + SR splicing factor 2 + + + gene with protein product + + + + OMIM + 600813 + + + SwissProt + Q01130 + + + HGNC + 10783 + + + Ensembl + ENSG00000161547 + + + Reactome + Q01130 + + + Genatlas + SRSF2 + + + ClinVar + SRSF2 + + + + + 17q25.2 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 25567135[PMID] + + ASXL transcriptional regulator 1 + ASXL1 + + KIAA0978 + + + gene with protein product + + + + Reactome + Q8IXJ9 + + + Ensembl + ENSG00000171456 + + + Genatlas + ASXL1 + + + HGNC + 18318 + + + OMIM + 612990 + + + SwissProt + Q8IXJ9 + + + ClinVar + ASXL1 + + + + + 20q11.21 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 98843 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98843 + Classic Hodgkin lymphoma, nodular sclerosis type + + Histopathological subtype + + + Subtype of disorder + + + + 19706467[PMID] + + kelch domain containing 8B + KLHDC8B + + MGC35097 + + + gene with protein product + + + + ClinVar + KLHDC8B + + + Ensembl + ENSG00000185909 + + + Genatlas + KLHDC8B + + + HGNC + 28557 + + + SwissProt + Q8IXV7 + + + OMIM + 613169 + + + + + 3p21.31 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 98839 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98839 + Intravascular large B-cell lymphoma + + Disease + + + Disorder + + + + + + BCL6 transcription repressor + BCL6 + + BCL5 + BCL6A + LAZ3 + ZBTB27 + 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CDIN1 + + FLJ22851 + HH114 + MGC11326 + + + gene with protein product + + + + SwissProt + Q9Y2V0 + + + Ensembl + ENSG00000186073 + + + Genatlas + C15orf41 + + + HGNC + 26929 + + + OMIM + 615626 + + + ClinVar + C15orf41 + + + + + 15q14 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 589618 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589618 + Dystonia 28 + + Disease + + + Disorder + + + + 27992417[PMID] + + lysine methyltransferase 2B + KMT2B + + KIAA0304 + WBP7 + TRX2 + HRX2 + MLL4 + MLL2 + MLL1B + CXXC10 + myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4 + Histone-lysine N-methyltransferase 2B + + + gene with protein product + + + + HGNC + 15840 + + + SwissProt + Q9UMN6 + + + IUPHAR + 2689 + + + Ensembl + ENSG00000272333 + + + Genatlas + KMT2B + + + OMIM + 606834 + + + ClinVar + KMT2B + + + + + 19q13.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98870 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98870 + Congenital dyserythropoietic anemia type III + + Disease + + + Disorder + + + + 23570799[PMID] + + kinesin family member 23 + KIF23 + + MKLP-1 + MKLP1 + + + gene with protein product + + + + Ensembl + ENSG00000137807 + + + Genatlas + KIF23 + + + HGNC + 6392 + + + OMIM + 605064 + + + Reactome + Q02241 + + + SwissProt + Q02241 + + + ClinVar + KIF23 + + + + + 15q23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + Rac GTPase activating protein 1 + RACGAP1 + + CYK4 + MgcRacGAP + + + gene with protein product + + + + Ensembl + ENSG00000161800 + + + OMIM + 604980 + + + SwissProt + Q9H0H5 + + + HGNC + 9804 + + + + + 12q13.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 589534 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589534 + Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) + + Etiological subtype + + + Subtype of disorder + + + + 27069254[PMID]_29072953[PMID]_26276768[PMID] + + fms related receptor tyrosine kinase 3 + FLT3 + + CD135 + FLK2 + STK1 + + + gene with protein product + + + + Ensembl + ENSG00000122025 + + + Genatlas + FLT3 + + + HGNC + 3765 + + + IUPHAR + 1807 + + + OMIM + 136351 + + + Reactome + P36888 + + + ClinVar + FLT3 + + + SwissProt + P36888 + + + + + 13q12.2 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 27069254[PMID]_29072953[PMID]_26276768[PMID] + + lysine methyltransferase 2A + KMT2A + + HTRX + ALL1 + ALL-1 + CXXC7 + HRX + HTRX1 + MLL1A + TRX1 + MLL1 + Histone-lysine N-methyltransferase 2A + + + gene with protein product + + + + ClinVar + KMT2A + + + IUPHAR + 2688 + + + Ensembl + ENSG00000118058 + + + Genatlas + KMT2A + + + HGNC + 7132 + + + OMIM + 159555 + + + Reactome + Q03164 + + + SwissProt + Q03164 + + + + + 11q23.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 98863 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98863 + X-linked Emery-Dreifuss muscular dystrophy + + Etiological subtype + + + Subtype of disorder + + + + + + emerin + EMD + + LEM domain containing 5 + LEMD5 + STA + + + gene with protein product + + + + ClinVar + EMD + + + Ensembl + ENSG00000102119 + + + Genatlas + EMD + + + HGNC + 3331 + + + OMIM + 300384 + + + Reactome + P50402 + + + SwissProt + P50402 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + four and a half LIM domains 1 + FHL1 + + FHL1B + FLH1A + Four-and-a-half LIM domains 1 + KYO-T + LIM protein SLIMMER + MGC111107 + SLIM1 + XMPMA + bA535K18.1 + + + gene with protein product + + + + Ensembl + ENSG00000022267 + + + Genatlas + FHL1 + + + HGNC + 3702 + + + OMIM + 300163 + + + SwissProt + Q13642 + + + ClinVar + FHL1 + + + Reactome + Q13642 + + + + + Xq26.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 589527 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589527 + Spinocerebellar ataxia type 45 + + Disease + + + Disorder + + + + 29053796[PMID] + + FAT atypical cadherin 2 + FAT2 + + MEGF1 + CDHF8 + HFAT2 + CDHR9 + cadherin-related family member 9 + multiple EGF like domains 1 + + + gene with protein product + + + + OMIM + 604269 + + + Ensembl + ENSG00000086570 + + + HGNC + 3596 + + + SwissProt + Q9NYQ8 + + + + + 5q33.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 589547 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589547 + GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder + + Disease + + + Disorder + + + + 29851452[PMID] + + glutamate ionotropic receptor NMDA type subunit 2B + GRIN2B + + GluN2B + NR2B + + + gene with protein product + + + + Ensembl + ENSG00000273079 + + + Genatlas + GRIN2B + + + HGNC + 4586 + + + IUPHAR + 457 + + + OMIM + 138252 + + + Reactome + Q13224 + + + SwissProt + Q13224 + + + ClinVar + GRIN2B + + + + + 12p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 589442 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589442 + Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome + + Malformation syndrome + + + Disorder + + + + 31263216[PMID] + + phosphatidylserine decarboxylase + PISD + + dJ858B16.2 + PSDC + + + gene with protein product + + + + SwissProt + Q9UG56 + + + HGNC + 8999 + + + OMIM + 612770 + + + IUPHAR + 1277 + + + Ensembl + ENSG00000241878 + + + + + 22q12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 589435 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589435 + Spondylometaphyseal dysplasia-corneal dystrophy syndrome + + Malformation syndrome + + + Disorder + + + + 29122926[PMID] + + phospholipase C beta 3 + PLCB3 + + + + gene with protein product + + + + IUPHAR + 1405 + + + ClinVar + PLCB3 + + + HGNC + 9056 + + + Ensembl + ENSG00000149782 + + + SwissProt + Q01970 + + + OMIM + 600230 + + + Genatlas + PLCB3 + + + Reactome + Q01970 + + + + + 11q13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 589522 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589522 + Spinocerebellar ataxia type 46 + + Disease + + + Disorder + + + + 29847346[PMID] + + phospholipase D family member 3 + PLD3 + + HU-K4 + + + gene with protein product + + + + HGNC + 17158 + + + OMIM + 615698 + + + Genatlas + PLD3 + + + SwissProt + Q8IV08 + + + Reactome + Q8IV08 + + + Ensembl + ENSG00000105223 + + + ClinVar + PLD3 + + + + + 19q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 589515 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589515 + PUM1-associated developmental disability-ataxia-seizure syndrome + + Disease + + + Disorder + + + + 30903679[PMID] + + pumilio RNA binding family member 1 + PUM1 + + KIAA0099 + PUMH1 + + + gene with protein product + + + + Ensembl + ENSG00000134644 + + + HGNC + 14957 + + + OMIM + 607204 + + + SwissProt + Q14671 + + + + + 1p35.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98855 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98855 + Autosomal recessive Emery-Dreifuss muscular dystrophy + + Etiological subtype + + + Subtype of disorder + + + + + + lamin A/C + LMNA + + HGPS + MADA + mandibuloacral dysplasia type A + progerin + + + gene with protein product + + + + ClinVar + LMNA + + + Ensembl + ENSG00000160789 + + + Genatlas + LMNA + + + HGNC + 6636 + + + OMIM + 150330 + + + Reactome + P02545 + + + SwissProt + P02545 + + + + + 1q22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98856 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98856 + Charcot-Marie-Tooth disease type 2B1 + + Disease + + + Disorder + + + + 20301462[PMID] + + lamin A/C + LMNA + + HGPS + MADA + mandibuloacral dysplasia type A + progerin + + + gene with protein product + + + + ClinVar + LMNA + + + Ensembl + ENSG00000160789 + + + Genatlas + LMNA + + + HGNC + 6636 + + + OMIM + 150330 + + + Reactome + P02545 + + + SwissProt + P02545 + + + + + 1q22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98881 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98881 + Familial dysfibrinogenemia + + Clinical subtype + + + Subtype of disorder + + + + 25320241[PMID] + + fibrinogen alpha chain + FGA + + + + gene with protein product + + + + ClinVar + FGA + + + Ensembl + ENSG00000171560 + + + Genatlas + FGA + + + HGNC + 3661 + + + OMIM + 134820 + + + Reactome + P02671 + + + SwissProt + P02671 + + + + + 4q31.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 25320241[PMID] + + fibrinogen beta chain + FGB + + + + gene with protein product + + + + ClinVar + FGB + + + Ensembl + ENSG00000171564 + + + Genatlas + FGB + + + HGNC + 3662 + + + OMIM + 134830 + + + Reactome + P02675 + + 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fibrinogen beta chain + FGB + + + + gene with protein product + + + + ClinVar + FGB + + + Ensembl + ENSG00000171564 + + + Genatlas + FGB + + + HGNC + 3662 + + + OMIM + 134830 + + + Reactome + P02675 + + + SwissProt + P02675 + + + + + 4q31.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 11460507[PMID]_17295221[PMID] + + fibrinogen gamma chain + FGG + + + + gene with protein product + + + + Ensembl + ENSG00000171557 + + + Genatlas + FGG + + + HGNC + 3694 + + + OMIM + 134850 + + + Reactome + P02679 + + + SwissProt + P02679 + + + ClinVar + FGG + + + + + 4q32.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98885 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98885 + Bleeding diathesis due to glycoprotein VI deficiency + + Etiological subtype + + + Subtype of disorder + + + + 19549989[PMID]_19552682[PMID] + + glycoprotein VI platelet + GP6 + + GPVI + platelet glycoprotein VI + + + gene with protein product + + + + ClinVar + GP6 + + + Ensembl + ENSG00000088053 + + + Genatlas + GP6 + + + HGNC + 14388 + + + OMIM + 605546 + + + Reactome + Q9HCN6 + + + SwissProt + Q9HCN6 + + + + + 19q13.42 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 98873 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98873 + Congenital dyserythropoietic anemia type II + + Disease + + + Disorder + + + + + + SEC23 homolog B, COPII component + SEC23B + + CDA-II + CDAII + HEMPAS + + + gene with protein product + + + + Reactome + Q15437 + + + Ensembl + ENSG00000101310 + + + Genatlas + SEC23B + + + HGNC + 10702 + + + OMIM + 610512 + + + SwissProt + Q15437 + + + ClinVar + SEC23B + + + + + 20p11.23 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 98897 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98897 + Oculopharyngodistal myopathy + + Disease + + + Disorder + + + + 33693509[PMID] + + notch 2 N-terminal like C + NOTCH2NLC + + + + gene with protein product + + + + OMIM + 618025 + + + HGNC + 53924 + + + Ensembl + ENSG00000286219 + + + SwissProt + P0DPK4 + + + + + 1q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 31332380[PMID] + + LDL receptor related protein 12 + LRP12 + + FLJ12929 + ST7 + + + gene with protein product + + + + HGNC + 31708 + + + Ensembl + ENSG00000147650 + + + OMIM + 618299 + + + SwissProt + Q9Y561 + + + + + 8q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 33374016[PMID] + + GIPC PDZ domain containing family member 1 + GIPC1 + + GIPC + SYNECTIN + SEMCAP + Hs.6454 + TIP-2 + NIP + GLUT1CBP + + + gene with protein product + + + + SwissProt + O14908 + + + Ensembl + ENSG00000123159 + + + HGNC + 1226 + + + OMIM + 605072 + + + + + 19p13.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 39068203[PMID] + + ATP binding cassette subfamily D member 3 + ABCD3 + + PMP70 + peroxisomal membrane protein 70 kDa + ZWS2 + + + gene with protein product + + + + SwissProt + P28288 + + + HGNC + 67 + + + Ensembl + ENSG00000117528 + + + OMIM + 170995 + + + IUPHAR + 790 + + + + + 1p21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 37923380[PMID] + + NUTM2B antisense RNA 1 + NUTM2B-AS1 + + + + Non-coding RNA + + + + Ensembl + ENSG00000225484 + + + HGNC + 51204 + + + OMIM + 618639 + + + + + 10q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 35700120[PMID] + + Rab interacting lysosomal protein like 1 + RILPL1 + + FLJ39378 + + + gene with protein product + + + + Ensembl + ENSG00000188026 + + + OMIM + 614092 + + + SwissProt + Q5EBL4 + + + HGNC + 26814 + + + + + 12q24.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98895 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98895 + Becker muscular dystrophy + + Disease + + + Disorder + + + + + + dystrophin + DMD + + BMD + DXS142 + DXS164 + DXS206 + DXS230 + DXS239 + DXS268 + DXS269 + DXS270 + DXS272 + muscular dystrophy, Duchenne and Becker types + + + gene with protein product + + + + Ensembl + ENSG00000198947 + + + Genatlas + DMD + + + HGNC + 2928 + + + OMIM + 300377 + + + Reactome + P11532 + + + SwissProt + P11532 + + + ClinVar + DMD + + + + + Xp21.2-p21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98896 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98896 + Duchenne muscular dystrophy + + Disease + + + Disorder + + + + + + dystrophin + DMD + + BMD + DXS142 + DXS164 + DXS206 + DXS230 + DXS239 + DXS268 + DXS269 + DXS270 + DXS272 + muscular dystrophy, Duchenne and Becker types + + + gene with protein product + + + + Ensembl + ENSG00000198947 + + + Genatlas + DMD + + + HGNC + 2928 + + + OMIM + 300377 + + + Reactome + P11532 + + + SwissProt + P11532 + + + ClinVar + DMD + + + + + Xp21.2-p21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23440719[PMID] + + latent transforming growth factor beta binding protein 4 + LTBP4 + + FLJ46318 + FLJ90018 + LTBP-4 + LTBP-4L + + + gene with protein product + + + + Ensembl + ENSG00000090006 + + + Genatlas + LTBP4 + + + HGNC + 6717 + + + OMIM + 604710 + + + Reactome + Q8N2S1 + + + SwissProt + Q8N2S1 + + + ClinVar + LTBP4 + + + + + 19q13.2 + 1 + + + + + Modifying germline mutation in + + + Assessed + + + + + + 98902 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98902 + Amish nemaline myopathy + + Disease + + + Disorder + + + + 10952871[PMID] + + troponin T1, slow skeletal type + TNNT1 + + FLJ98147 + MGC104241 + NEM5 + STNT + TNT + TNTS + nemaline myopathy type 5 + slow skeletal muscle troponin T + troponin T1, skeletal, slow + ANM + + + gene with protein product + + + + Ensembl + ENSG00000105048 + + + Genatlas + TNNT1 + + + HGNC + 11948 + + + OMIM + 191041 + + + Reactome + P13805 + + + SwissProt + P13805 + + + ClinVar + TNNT1 + + + + + 19q13.42 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98889 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98889 + Bilateral perisylvian polymicrogyria + + Clinical subtype + + + Subtype of disorder + + + + 16497722[PMID] + + sushi repeat containing protein X-linked 2 + SRPX2 + + SRPUL + + + gene with protein product + + + + Ensembl + ENSG00000102359 + + + Genatlas + SRPX2 + + + HGNC + 30668 + + + OMIM + 300642 + + + SwissProt + O60687 + + + ClinVar + SRPX2 + + + + + Xq22.1 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 24531968[PMID] + + adhesion G protein-coupled receptor G1 + ADGRG1 + + TM7LN4 + TM7XN1 + + + gene with protein product + + + + ClinVar + GPR56 + + + Ensembl + ENSG00000205336 + + + Genatlas + GPR56 + + + HGNC + 4512 + + + IUPHAR + 186 + + + OMIM + 604110 + + + SwissProt + Q9Y653 + + + + + 16q21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 25855803[PMID] + + phosphatidylinositol 4-kinase alpha + PI4KA + + phosphatidylinositol 4-kinase III alpha + PI4K-ALPHA + pi4K230 + phosphatidylinositol 4-kinase IIIa + + + gene with protein product + + + + Ensembl + ENSG00000241973 + + + Genatlas + PI4KA + + + HGNC + 8983 + + + IUPHAR + 2148 + + + OMIM + 600286 + + + Reactome + P42356 + + + SwissProt + P42356 + + + ClinVar + PI4KA + + + + + 22q11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98890 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98890 + Early-onset X-linked optic atrophy + + Disease + + + Disorder + + + + + + optic atrophy 2 (obscure) + OPA2 + + + + Disorder-associated locus + + + + HGNC + 8141 + + + + + Xp11.4-p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98892 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98892 + Periventricular nodular heterotopia + + Clinical subtype + + + Subtype of disorder + + + + 14647276[PMID]_25160555[PMID] + + ARF guanine nucleotide exchange factor 2 + ARFGEF2 + + BIG2 + Brefeldin A-inhibited guanine nucleotide-exchange protein 2 + + + gene with protein product + + + + ClinVar + ARFGEF2 + + + Ensembl + ENSG00000124198 + + + Genatlas + ARFGEF2 + + + HGNC + 15853 + + + OMIM + 605371 + + + Reactome + Q9Y6D5 + + + SwissProt + Q9Y6D5 + + + + + 20q13.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301392[PMID] + + filamin A + FLNA + + ABP-280 + actin binding protein 280 + alpha filamin + + + gene with protein product + + + + Ensembl + ENSG00000196924 + + + Genatlas + FLNA + + + HGNC + 3754 + + + OMIM + 300017 + + + Reactome + P21333 + + + SwissProt + P21333 + + + ClinVar + FLNA + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 24056535[PMID] + + ER membrane associated RNA degradation + ERMARD + + FLJ11152 + dJ266L20.3 + + + gene with protein product + + + + ClinVar + C6orf70 + + + Ensembl + ENSG00000130023 + + + Genatlas + C6orf70 + + + HGNC + 21056 + + + OMIM + 615532 + + + SwissProt + Q5T6L9 + + + + + 6q27 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 27694961[PMID] + + NEDD4 like E3 ubiquitin protein ligase + NEDD4L + + NEDD4-2 + RSP5 + KIAA0439 + + + gene with protein product + + + + ClinVar + NEDD4L + + + Reactome + Q96PU5 + + + HGNC + 7728 + + + OMIM + 606384 + + + Genatlas + NEDD4L + + + Ensembl + ENSG00000049759 + + + SwissProt + Q96PU5 + + + + + 18q21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 27773428[PMID]_ 28973161[PMID] + + transmembrane O-mannosyltransferase targeting cadherins 3 + TMTC3 + + FLJ90492 + SMILE + + + gene with protein product + + + + ClinVar + TMTC3 + + + SwissProt + Q6ZXV5 + + + HGNC + 26899 + + + Ensembl + ENSG00000139324 + + + OMIM + 617218 + + + Genatlas + TMTC3 + + + Reactome + Q6ZXV5 + + + + + 12q21.32 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 28868155[PMID] + + ARF GTPase 1 + ARF1 + + + + gene with protein product + + + + Ensembl + ENSG00000143761 + + + HGNC + 652 + + + SwissProt + P84077 + + + Reactome + P84077 + + + OMIM + 103180 + + + + + 1q42.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 29738522[PMID] + + microtubule associated protein 1B + MAP1B + + MAP5 + PPP1R102 + protein phosphatase 1, regulatory subunit 102 + + + gene with protein product + + + + HGNC + 6836 + + + Ensembl + ENSG00000131711 + + + SwissProt + P46821 + + + OMIM + 157129 + + + Genatlas + MAP1B + + + Reactome + P46821 + + + ClinVar + MAP1B + + + + + 5q13.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 98912 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98912 + Late-onset distal myopathy, Markesbery-Griggs type + + Disease + + + Disorder + + + + 20809097[PMID] + + LIM domain binding 3 + LDB3 + 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subtype + + + Subtype of disorder + + + + 20301347[PMID] + + choline O-acetyltransferase + CHAT + + CHOACTase + + + gene with protein product + + + + Ensembl + ENSG00000070748 + + + Genatlas + CHAT + + + HGNC + 1912 + + + OMIM + 118490 + + + Reactome + P28329 + + + IUPHAR + 2480 + + + SwissProt + P28329 + + + ClinVar + CHAT + + + + + 10q11.23 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 22205389[PMID]_19631309[PMID]_20301347[PMID] + + agrin + AGRN + + AGRIN + + + gene with protein product + + + + Ensembl + ENSG00000188157 + + + Genatlas + AGRN + + + HGNC + 329 + + + OMIM + 103320 + + + Reactome + O00468 + + + SwissProt + O00468 + + + ClinVar + AGRN + + + + + 1p36.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + solute carrier family 25 member 1 + SLC25A1 + + Tricarboxylate transport protein, mitochondrial + citrate transport protein + CTP + CIC + citrate isocitrate carrier + + + gene with protein 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Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 98913 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98913 + Postsynaptic congenital myasthenic syndrome + + Etiological subtype + + + Subtype of disorder + + + + 20301347[PMID] + + receptor associated protein of the synapse + RAPSN + + CMS1D + CMS1E + RNF205 + rapsyn + + + gene with protein product + + + + ClinVar + RAPSN + + + HGNC + 9863 + + + OMIM + 601592 + + + SwissProt + Q13702 + + + Ensembl + ENSG00000165917 + + + Genatlas + RAPSN + + + + + 11p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301347[PMID] + + sodium voltage-gated channel alpha subunit 4 + SCN4A + + HYPP + Nav1.4 + SkM1 + + + gene with protein product + + + + ClinVar + SCN4A + + + Genatlas + SCN4A + + + HGNC + 10591 + + + IUPHAR + 581 + + + OMIM + 603967 + + + Reactome + P35499 + + + SwissProt + P35499 + + + Ensembl + ENSG00000007314 + + + + + 17q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301347[PMID] + + cholinergic receptor nicotinic alpha 1 subunit + CHRNA1 + + acetylcholine receptor, nicotinic, alpha 1 (muscle) + + + gene with protein product + + + + Ensembl + ENSG00000138435 + + + Genatlas + CHRNA1 + + + HGNC + 1955 + + + IUPHAR + 462 + + + OMIM + 100690 + + + Reactome + P02708 + + + SwissProt + P02708 + + + ClinVar + CHRNA1 + + + + + 2q31.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 20301347[PMID] + + cholinergic receptor nicotinic alpha 1 subunit + CHRNA1 + + acetylcholine receptor, nicotinic, alpha 1 (muscle) + + + gene with protein product + + + + Ensembl + ENSG00000138435 + + + Genatlas + CHRNA1 + + + HGNC + 1955 + + + IUPHAR + 462 + + + OMIM + 100690 + + + Reactome + P02708 + + + SwissProt + P02708 + + + ClinVar + CHRNA1 + + + + + 2q31.1 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 20301347[PMID] + + cholinergic receptor nicotinic beta 1 subunit + CHRNB1 + + acetylcholine receptor, nicotinic, beta 1 (muscle) + + + gene with protein product + + + + Ensembl + ENSG00000170175 + + + Genatlas + CHRNB1 + + + HGNC + 1961 + + + IUPHAR + 471 + + + OMIM + 100710 + + + SwissProt + P11230 + + + ClinVar + CHRNB1 + + + + + 17p13.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 20301347[PMID] + + cholinergic receptor nicotinic beta 1 subunit + CHRNB1 + + acetylcholine receptor, nicotinic, beta 1 (muscle) + + + gene with protein product + + + + Ensembl + ENSG00000170175 + + + Genatlas + CHRNB1 + + + HGNC + 1961 + + + IUPHAR + 471 + + + OMIM + 100710 + + + SwissProt + P11230 + + + ClinVar + CHRNB1 + + + + + 17p13.1 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 20301347[PMID] + + cholinergic receptor nicotinic delta subunit + CHRND + + acetylcholine receptor, nicotinic, delta (muscle) + + + gene with protein product + + + + Ensembl + ENSG00000135902 + + + Genatlas + CHRND + + + HGNC + 1965 + + + IUPHAR + 476 + + + OMIM + 100720 + + + Reactome + Q07001 + + + SwissProt + Q07001 + + + ClinVar + CHRND + + + + + 2q37.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 20301347[PMID] + + cholinergic receptor nicotinic delta subunit + CHRND + + acetylcholine receptor, nicotinic, delta (muscle) + + + gene with protein product + + + + Ensembl + ENSG00000135902 + + + Genatlas + CHRND + + + HGNC + 1965 + + + IUPHAR + 476 + + + OMIM + 100720 + + + Reactome + Q07001 + + + SwissProt + Q07001 + + + ClinVar + CHRND + + + + + 2q37.1 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 20301347[PMID] + + cholinergic receptor nicotinic epsilon subunit + CHRNE + + ACHRE + acetylcholine receptor, nicotinic, epsilon (muscle) + + + gene with protein product + + + + SwissProt + Q04844 + + + Ensembl + ENSG00000108556 + + + Genatlas + CHRNE + + + HGNC + 1966 + + + IUPHAR + 477 + + + OMIM + 100725 + + + Reactome + Q04844 + + + ClinVar + CHRNE + + + + + 17p13.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 20301347[PMID] + + cholinergic receptor nicotinic epsilon subunit + CHRNE + + ACHRE + acetylcholine receptor, nicotinic, epsilon (muscle) + + + gene with protein product + + + + SwissProt + Q04844 + + + Ensembl + ENSG00000108556 + + + Genatlas + CHRNE + + + HGNC + 1966 + + + IUPHAR + 477 + + + OMIM + 100725 + + + Reactome + Q04844 + + + ClinVar + CHRNE + + + + + 17p13.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 20301347[PMID] + + docking protein 7 + DOK7 + + Dok-7 + FLJ33718 + FLJ39137 + + + gene with protein product + + + + ClinVar + DOK7 + + + Reactome + Q18PE1 + + + Ensembl + ENSG00000175920 + + + Genatlas + DOK7 + + + HGNC + 26594 + + + OMIM + 610285 + + + SwissProt + Q18PE1 + + + + + 4p16.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301347[PMID] + + muscle associated receptor tyrosine kinase + MUSK + + + + gene with protein product + + + + Ensembl + ENSG00000030304 + + + Genatlas + MUSK + + + HGNC + 7525 + + + IUPHAR + 1847 + + + OMIM + 601296 + + + Reactome + O15146 + + + SwissProt + O15146 + + + ClinVar + MUSK + + + + + 9q31.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24234652[PMID] + + LDL receptor related protein 4 + LRP4 + + CLSS + LRP-4 + MEGF7 + SOST2 + multiple EGF like domains 7 + + + gene with protein product + + + + ClinVar + LRP4 + + + Ensembl + ENSG00000134569 + + + Genatlas + LRP4 + + + HGNC + 6696 + + + OMIM + 604270 + + + Reactome + O75096 + + + SwissProt + O75096 + + + + + 11p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22205389[PMID]_19631309[PMID]_20301347[PMID] + + agrin + AGRN + + AGRIN + + + gene with protein product + + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98916 + Acute inflammatory demyelinating polyradiculoneuropathy + + Disease + + + Disorder + + + + 12439896[PMID] + + peripheral myelin protein 22 + PMP22 + + GAS3 + HNPP + Sp110 + HMSNIA + + + gene with protein product + + + + Reactome + Q01453 + + + ClinVar + PMP22 + + + Ensembl + ENSG00000109099 + + + Genatlas + PMP22 + + + HGNC + 9118 + + + OMIM + 601097 + + + SwissProt + Q01453 + + + + + 17p12 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 98915 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98915 + Synaptic congenital myasthenic syndrome + + Etiological subtype + + + Subtype of disorder + + + + 20301347[PMID] + + collagen like tail subunit of asymmetric acetylcholinesterase + COLQ + + AChE Q subunit + EAD + acetylcholinesterase-associated collagen + collagenic tail of endplate acetylcholinesterase + single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase + + + gene with protein product + + + + ClinVar + COLQ + + + Ensembl + ENSG00000206561 + + + Genatlas + COLQ + + + HGNC + 2226 + + + OMIM + 603033 + + + SwissProt + Q9Y215 + + + + + 3p25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 19251977[PMID]_25792100[PMID] + + laminin subunit beta 2 + LAMB2 + + NPHS5 + laminin S + + + gene with protein product + + + + ClinVar + LAMB2 + + + Ensembl + ENSG00000172037 + + + Genatlas + LAMB2 + + + HGNC + 6487 + + + OMIM + 150325 + + + Reactome + P55268 + + + SwissProt + P55268 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98904 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98904 + Congenital myopathy with excess of thin filaments + + Disease + + + Disorder + + + + 10508519[PMID] + + actin alpha 1, skeletal muscle + ACTA1 + + NEM3 + nemaline myopathy type 3 + + + gene with protein product + + + + ClinVar + ACTA1 + + + OMIM + 102610 + + + Reactome + P68133 + + + SwissProt + P68133 + + + Ensembl + ENSG00000143632 + + + Genatlas + ACTA1 + + + HGNC + 129 + + + + + 1q42.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98905 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98905 + Congenital multicore myopathy with external ophthalmoplegia + + Clinical subtype + + + Subtype of disorder + + + + 20301467[PMID]_12719381[PMID]_16380615[PMID] + + ryanodine receptor 1 + RYR1 + + PPP1R137 + RYR + protein phosphatase 1, regulatory subunit 137 + + + gene with protein product + + + + ClinVar + RYR1 + + + Ensembl + ENSG00000196218 + + + Genatlas + RYR1 + + + HGNC + 10483 + + + IUPHAR + 747 + + + OMIM + 180901 + + + Reactome + P21817 + + + SwissProt + P21817 + + + + + 19q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98908 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98908 + Neutral lipid storage disease with myopathy + + Disease + + + Disorder + + + + 17187067[PMID] + + patatin like domain 2, triacylglycerol lipase + PNPLA2 + + ATGL + FP17548 + TTS-2.2 + desnutrin + iPLA2zeta + adipose triglyceride lipase + + + gene with protein product + + + + IUPHAR + 3253 + + + Ensembl + ENSG00000177666 + + + Genatlas + PNPLA2 + + + HGNC + 30802 + + + OMIM + 609059 + + + Reactome + Q96AD5 + + + SwissProt + Q96AD5 + + + ClinVar + PNPLA2 + + + + + 11p15.5 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98907 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98907 + Neutral lipid storage disease with ichthyosis + + Disease + + + Disorder + + + + 18606822[PMID] + + abhydrolase domain containing 5, lysophosphatidic acid acyltransferase + ABHD5 + + CGI-58 + NCIE2 + + + gene with protein product + + + + ClinVar + ABHD5 + + + Ensembl + ENSG00000011198 + + + Genatlas + ABHD5 + + + HGNC + 21396 + + + OMIM + 604780 + + + Reactome + Q8WTS1 + + + SwissProt + Q8WTS1 + + + + + 3p21.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98909 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98909 + Desminopathy + + Disease + + + Disorder + + + + 11668632[PMID] + + desmin + DES + + CMD1I + CSM1 + CSM2 + intermediate filament protein + LGMD2R + cardiomyopathy, dilated 1I + + + gene with protein product + + + + ClinVar + DES + + + Ensembl + ENSG00000175084 + + + Genatlas + DES + + + HGNC + 2770 + + + OMIM + 125660 + + + Reactome + P17661 + + + SwissProt + P17661 + + + + + 2q35 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98933 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98933 + Multiple system atrophy, parkinsonian type + + Clinical subtype + + + Subtype of disorder + + + + 23758206[PMID] + + coenzyme Q2, polyprenyltransferase + COQ2 + + 4-hydroxybenzoate polyprenyltransferase + CL640 + FLJ26072 + + + gene with protein product + + + + ClinVar + COQ2 + + + Ensembl + ENSG00000173085 + + + Genatlas + COQ2 + + + HGNC + 25223 + + + OMIM + 609825 + + + Reactome + Q96H96 + + + SwissProt + Q96H96 + + + + + 4q21.23 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 98934 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98934 + Huntington disease-like 2 + + Disease + + + Disorder + + + + + + junctophilin 3 + JPH3 + + junctophilin3 + CAGL237 + HDL2 + JP-3 + JP3 + + + gene with protein product + + + + Ensembl + ENSG00000154118 + + + Genatlas + JPH3 + + + HGNC + 14203 + + + OMIM + 605268 + + + SwissProt + Q8WXH2 + + + ClinVar + JPH3 + + + + + 16q24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98920 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98920 + Spinal muscular atrophy with respiratory distress type 1 + + Disease + + + Disorder + + + + 11528396[PMID] + + immunoglobulin mu DNA binding protein 2 + IGHMBP2 + + CATF1 + CMT2S + HCSA + HMN6 + SMARD1 + SMUBP2 + ZFAND7 + cardiac transcription factor 1 + zinc finger, AN1-type domain 7 + + + gene with protein product + + + + ClinVar + IGHMBP2 + + + Ensembl + ENSG00000132740 + + + Genatlas + IGHMBP2 + + + HGNC + 5542 + + + OMIM + 600502 + + + SwissProt + P38935 + + + + + 11q13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98942 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98942 + Coloboma of choroid and retina + + Morphological anomaly + + + Disorder + + + + 28493397[PMID] + + actin gamma 1 + ACTG1 + + + + gene with protein product + + + + ClinVar + ACTG1 + + + Ensembl + ENSG00000184009 + + + Genatlas + ACTG1 + + + HGNC + 144 + + + OMIM + 102560 + + + Reactome + P63261 + + + SwissProt + P63261 + + + + + 17q25.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26908622[PMID] + + frizzled class receptor 5 + FZD5 + + DKFZP434E2135 + HFZ5 + + + gene with protein product + + + + HGNC + 4043 + + + OMIM + 601723 + + + Genatlas + FZD5 + + + SwissProt + Q13467 + + + Reactome + Q13467 + + + Ensembl + ENSG00000163251 + + + IUPHAR + 233 + + + ClinVar + FZD5 + + + + + 2q33.3 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 24412933[PMID] + + spalt like transcription factor 2 + SALL2 + + Hsal2 + KIAA0360 + ZNF795 + + + gene with protein product + + + + Ensembl + ENSG00000165821 + + + Genatlas + SALL2 + + + HGNC + 10526 + + + OMIM + 602219 + + + SwissProt + Q9Y467 + + + Reactome + Q9Y467 + + + ClinVar + SALL2 + + + + + 14q11.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 22226084[PMID] + + ATP binding cassette subfamily B member 6 (LAN blood group) + ABCB6 + + umat + ATP-binding cassette half-transporter + EST45597 + MTABC3 + + + gene with protein product + + + + Ensembl + ENSG00000115657 + + + Genatlas + ABCB6 + + + HGNC + 47 + + + OMIM + 605452 + + + Reactome + Q9NP58 + + + SwissProt + Q9NP58 + + + IUPHAR + 773 + + + ClinVar + ABCB6 + + + + + 2q35 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 12721955[PMID]_16604056[PMID] + + paired box 6 + PAX6 + + AN + D11S812E + WAGR + aniridia, keratitis + Aniridia 1 + Aniridia 2 + + + gene with protein product + + + + Ensembl + ENSG00000007372 + + + Genatlas + PAX6 + + + HGNC + 8620 + + + OMIM + 607108 + + + Reactome + P26367 + + + SwissProt + P26367 + + + ClinVar + PAX6 + + + + + 11p13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98938 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98938 + Colobomatous microphthalmia + + Malformation syndrome + + + Disorder + + + + 12503095[PMID] + + sonic hedgehog signaling molecule + SHH + + HHG1 + MCOPCB5 + SMMCI + TPT + TPTPS + SHH signaling molecule + + + gene with protein product + + + + ClinVar + SHH + + + Ensembl + ENSG00000164690 + + + Genatlas + SHH + + + HGNC + 10848 + + + OMIM + 600725 + + + Reactome + Q15465 + + + SwissProt + 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ClinVar + CTNNA1 + + + + + 5q31.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99002 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99002 + Reticular dystrophy of the retinal pigment epithelium + + Disease + + + Disorder + + + + 27486781[PMID] + + RCC1 and BTB domain containing protein 1 + RCBTB1 + + CLLD7 + CLLL7 + FLJ10716 + + + gene with protein product + + + + HGNC + 18243 + + + OMIM + 607867 + + + Genatlas + RCBTB1 + + + SwissProt + Q8NDN9 + + + Ensembl + ENSG00000136144 + + + ClinVar + RCBTB1 + + + + + 13q14.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99000 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99000 + Adult-onset foveomacular vitelliform dystrophy + + Disease + + + Disorder + + + + 9338584[PMID]_10854112[PMID] + + peripherin 2 + PRPH2 + + CACD2 + TSPAN22 + rd2 + retinal peripherin + tetraspanin-22 + choroidal dystrophy, central areolar 2 + + + gene with protein 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interphotoreceptor matrix proteoglycan 1 + IMPG1 + + GP147 + IPM150 + + + gene with protein product + + + + ClinVar + IMPG1 + + + Ensembl + ENSG00000112706 + + + Genatlas + IMPG1 + + + HGNC + 6055 + + + OMIM + 602870 + + + SwissProt + Q17R60 + + + + + 6q14.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99003 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99003 + Multifocal pattern dystrophy simulating fundus flavimaculatus + + Disease + + + Disorder + + + + 17504850[PMID] + + peripherin 2 + PRPH2 + + CACD2 + TSPAN22 + rd2 + retinal peripherin + tetraspanin-22 + choroidal dystrophy, central areolar 2 + + + gene with protein product + + + + ClinVar + PRPH2 + + + Ensembl + ENSG00000112619 + + + Genatlas + PRPH2 + + + HGNC + 9942 + + + OMIM + 179605 + + + SwissProt + P23942 + + + + + 6p21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99013 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99013 + Spastic paraplegia type 7 + + Disease + + + Disorder + + + + 17646629[PMID]_20301286[PMID] + + SPG7 matrix AAA peptidase subunit, paraplegin + SPG7 + + CAR + SPG5C + paraplegin + + + gene with protein product + + + + ClinVar + SPG7 + + + Reactome + Q9UQ90 + + + Ensembl + ENSG00000197912 + + + Genatlas + SPG7 + + + HGNC + 11237 + + + OMIM + 602783 + + + SwissProt + Q9UQ90 + + + + + 16q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99014 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99014 + X-linked Charcot-Marie-Tooth disease type 5 + + Disease + + + Disorder + + + + 20301731[PMID] + + phosphoribosyl pyrophosphate synthetase 1 + PRPS1 + + PRS I + ribose-phosphate diphosphokinase 1 + CMTX5 + DFNX1 + PRS-I + PPRibP + + + gene with protein product + + + + ClinVar + PRPS1 + + + Ensembl + ENSG00000147224 + + + Genatlas + PRPS1 + + + HGNC + 9462 + + + OMIM + 311850 + + + Reactome + P60891 + + + SwissProt + P60891 + + + + + Xq22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99015 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99015 + Spastic paraplegia type 2 + + Disease + + + Disorder + + + + 20301361[PMID] + + proteolipid protein 1 + PLP1 + + GPM6C + Pelizaeus-Merzbacher disease + + + gene with protein product + + + + Ensembl + ENSG00000123560 + + + Genatlas + PLP1 + + + HGNC + 9086 + + + OMIM + 300401 + + + SwissProt + P60201 + + + ClinVar + PLP1 + + + + + Xq22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 585877 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585877 + B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality + + Etiological subtype + + + Subtype of disorder + + + + 21304535[PMID]_26191303[PMID] + + platelet derived growth factor receptor alpha + PDGFRA + + CD140a + GAS9 + PDGFR2 + + + gene with protein product + + + + Ensembl + ENSG00000134853 + + + Genatlas + PDGFRA + + + HGNC + 8803 + + + IUPHAR + 1803 + + + OMIM + 173490 + + + Reactome + P16234 + + + SwissProt + P16234 + + + ClinVar + PDGFRA + + + + + 4q12 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 21962897[PMID] + + forkhead box P1 + FOXP1 + + 12CC4 + HSPC215 + PAX5/FOXP1 fusion protein + QRF1 + fork head-related protein like B + glutamine-rich factor 1 + hFKH1B + + + gene with protein product + + + + ClinVar + FOXP1 + + + Reactome + Q9H334 + + + Ensembl + ENSG00000114861 + + + Genatlas + FOXP1 + + + HGNC + 3823 + + + OMIM + 605515 + + + SwissProt + Q9H334 + + + + + 3p13 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 585909 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585909 + B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) + + Etiological subtype + + + Subtype of disorder + + + + 18838613[PMID] + + cyclin dependent kinase inhibitor 2A + CDKN2A + + ARF + CDK4I + CMM2 + INK4 + INK4a + MTS1 + p14 + p14ARF + p16 + p16INK4a + p19 + p19Arf + inhibitor of cdk4 A + P16-INK4A + CDKN2A/ARF Intron 2 lncRNA + multiple tumour suppressor 1 + cyclin-dependent kinase 4 inhibitor A + p14 alternate open reading frame + p19 alternate open reading frame + CAI2 + + + gene with protein product + + + + Ensembl + ENSG00000147889 + + + Genatlas + CDKN2A + + + HGNC + 1787 + + + OMIM + 600160 + + + Reactome + P42771 + + + SwissProt + P42771 + + + ClinVar + CDKN2A + + + + + 9p21.3 + 1 + + + + + Biomarker tested in + + + Assessed + + + + 30561755[PMID] + + ABL proto-oncogene 1, non-receptor tyrosine kinase + ABL1 + + JTK7 + c-ABL + p150 + + + gene with protein product + + + + ClinVar + ABL1 + + + OMIM + 189980 + + + Reactome + P00519 + + + SwissProt + P00519 + + + Ensembl + ENSG00000097007 + + + Genatlas + ABL1 + + + HGNC + 76 + + + IUPHAR + 1923 + + + + + 9q34.12 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 23491079[PMID] + + BCR activator of RhoGEF and GTPase + BCR 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191170 + + + Reactome + P04637 + + + SwissProt + P04637 + + + ClinVar + TP53 + + + + + 17p13.1 + 1 + + + + + Biomarker tested in + + + Assessed + + + + 16234090[PMID] + + fms related receptor tyrosine kinase 3 + FLT3 + + CD135 + FLK2 + STK1 + + + gene with protein product + + + + Ensembl + ENSG00000122025 + + + Genatlas + FLT3 + + + HGNC + 3765 + + + IUPHAR + 1807 + + + OMIM + 136351 + + + Reactome + P36888 + + + ClinVar + FLT3 + + + SwissProt + P36888 + + + + + 13q12.2 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 25163702[PMID] + + major histocompatibility complex, class I, C + HLA-C + + + + gene with protein product + + + + OMIM + 142840 + + + Reactome + P04222 + + + Ensembl + ENSG00000204525 + + + Genatlas + HLA-C + + + HGNC + 4933 + + + SwissProt + P10321 + + + Reactome + P10321 + + + ClinVar + HLA-C + + + + + 6p21.33 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 585936 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585936 + B-lymphoblastic leukemia/lymphoma with hyperdiploidy + + Etiological subtype + + + Subtype of disorder + + + + 23996088[PMID]_24141364[PMID]_24203929[PMID] + + GATA binding protein 3 + GATA3 + + HDR + + + gene with protein product + + + + ClinVar + GATA3 + + + Ensembl + ENSG00000107485 + + + Genatlas + GATA3 + + + HGNC + 4172 + + + OMIM + 131320 + + + Reactome + P23771 + + + SwissProt + P23771 + + + + + 10p14 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 23996088[PMID] + + phosphatidylinositol-5-phosphate 4-kinase type 2 alpha + PIP4K2A + + PIP5KIIA + PIP5KIIalpha + + + gene with protein product + + + + ClinVar + PIP4K2A + + + Ensembl + ENSG00000150867 + + + Genatlas + PIP4K2A + + + HGNC + 8997 + + + OMIM + 603140 + + + Reactome + P48426 + + + SwissProt + P48426 + + + IUPHAR + 2858 + + + + + 10p12.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 585918 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585918 + B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) + + Etiological subtype + + + Subtype of disorder + + + + 30487223[PMID] + + lysine methyltransferase 2A + KMT2A + + HTRX + ALL1 + ALL-1 + CXXC7 + HRX + HTRX1 + MLL1A + TRX1 + MLL1 + Histone-lysine N-methyltransferase 2A + + + gene with protein product + + + + ClinVar + KMT2A + + + IUPHAR + 2688 + + + Ensembl + ENSG00000118058 + + + Genatlas + KMT2A + + + HGNC + 7132 + + + OMIM + 159555 + + + Reactome + Q03164 + + + SwissProt + Q03164 + + + + + 11q23.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 585929 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585929 + B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) + + Etiological subtype + + + Subtype of disorder + + + + 23491079[PMID] + + ETS variant transcription factor 6 + ETV6 + + TEL + TEL oncogene + + + gene with protein product + + + + Reactome + P41212 + + + Ensembl + ENSG00000139083 + + + Genatlas + ETV6 + + + HGNC + 3495 + + + OMIM + 600618 + + + SwissProt + P41212 + + + ClinVar + ETV6 + + + + + 12p13.2 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 99027 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99027 + Adult-onset autosomal dominant leukodystrophy + + Disease + + + Disorder + + + + 24501781[PMID]_23649844[PMID] + + lamin B1 + LMNB1 + + + + gene with protein product + + + + ClinVar + LMNB1 + + + Ensembl + ENSG00000113368 + + + Genatlas + LMNB1 + + + HGNC + 6637 + + + OMIM + 150340 + + + Reactome + P20700 + + + SwissProt + P20700 + + + + + 5q23.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 585956 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585956 + B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) + + Etiological subtype + + + Subtype of disorder + + + + 31575852[PMID] + + transcription factor 3 + TCF3 + + E2A + E2A immunoglobulin enhancer-binding factor E12/E47 + E47 + ITF1 + MGC129647 + MGC129648 + VDIR + VDR interacting repressor + bHLHb21 + immunoglobulin transcription factor 1 + kappa-E2-binding factor + transcription factor E2-alpha + p75 + + + gene with protein product + + + + Ensembl + ENSG00000071564 + + + Genatlas + TCF3 + + + HGNC + 11633 + + + OMIM + 147141 + + + Reactome + P15923 + + + SwissProt + P15923 + + + ClinVar + TCF3 + + + + + 19p13.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 31575852[PMID] + + PBX homeobox 1 + PBX1 + + + + gene with protein product + + + + ClinVar + PBX1 + + + Ensembl + ENSG00000185630 + + + Genatlas + PBX1 + + + HGNC + 8632 + + + OMIM + 176310 + + + Reactome + P40424 + + + SwissProt + P40424 + + + + + 1q23.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 585948 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585948 + B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) + + Etiological subtype + + + Subtype of disorder + + + + 1554798[PMID] + + immunoglobulin heavy locus + IGH + + + + gene with protein product + + + + OMIM + 146910 + + + OMIM + 147010 + + + ClinVar + IGH@ + + + OMIM + 147070 + + + Genatlas + IGH@ + + + HGNC + 5477 + + + SwissProt + Q6P089 + + + + + 14q32.33 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 99042 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99042 + Congenitally uncorrected transposition of the great arteries with coarctation + + Clinical subtype + + + Subtype of disorder + + + + 11799476[PMID] + + cryptic, EGF-CFC family member 1 + CFC1 + + CRYPTIC + + + gene with protein product + + + + ClinVar + CFC1 + + + Ensembl + ENSG00000136698 + + + Genatlas + CFC1 + + + HGNC + 18292 + + + OMIM + 605194 + + + Reactome + P0CG37 + + + SwissProt + P0CG37 + + + + + 2q21.1 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 98676 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98676 + Autosomal recessive isolated optic atrophy + + Disease + + + Disorder + + + + 27495975[PMID] + + YME1 like 1 ATPase + YME1L1 + + YME1L + + + gene with protein product + + + + OMIM + 607472 + + + HGNC + 12843 + + + SwissProt + Q96TA2 + + + Ensembl + ENSG00000136758 + + + + + 10p12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 37734847[PMID] + + mitochondrial trans-2-enoyl-CoA reductase + MECR + + CGI-63 + ETR1 + FASN2B + mitochondrial 2-enoyl thioester reductase + NRBF1 + nuclear receptor binding factor 1 + + + gene with protein product + + + + HGNC + 19691 + + + Ensembl + ENSG00000116353 + + + OMIM + 608205 + + + SwissProt + Q9BV79 + + + Genatlas + MECR + + + Reactome + Q9BV79 + + + ClinVar + MECR + + + + + 1p35.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 25351951[PMID] + + aconitase 2 + ACO2 + + ACONM + aconitate hydratase, mitochondrial + mitochondrial aconitase + + + gene with protein product + + + + Ensembl + ENSG00000100412 + + + Genatlas + ACO2 + + + HGNC + 118 + + + OMIM + 100850 + + + Reactome + Q99798 + + + SwissProt + Q99798 + + + ClinVar + ACO2 + + + + + 22q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26593267[PMID] + + reticulon 4 interacting protein 1 + RTN4IP1 + + NIMP + + + gene with protein product + + + + OMIM + 610502 + + + Reactome + Q8WWV3 + + + Genatlas + RTN4IP1 + + + ClinVar + RTN4IP1 + + + Ensembl + ENSG00000130347 + + + HGNC + 18647 + + + SwissProt + Q8WWV3 + + + + + 6q21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 31915829[PMID] + + malonyl-CoA-acyl carrier protein transacylase + MCAT + + MT + MCT + fabD + FASN2C + NET62 + MCT1 + [acyl-carrier-protein] S-malonyltransferase + + + gene with protein product + + + + HGNC + 29622 + + + Ensembl + ENSG00000100294 + + + SwissProt + Q8IVS2 + + + Reactome + Q8IVS2 + + + OMIM + 614479 + + + + + 22q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98673 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98673 + Autosomal dominant optic atrophy, classic form + + Disease + + + Disorder + + + + 20301426[PMID] + + OPA1 mitochondrial dynamin like GTPase + OPA1 + + Dynamin-like 120 kDa protein, mitochondrial + FLJ12460 + KIAA0567 + MGM1 + NPG + NTG + dynamin-like guanosine triphosphatase + mitochondrial dynamin-like GTPase + + + gene with protein product + + + + Reactome + O60313 + + + Ensembl + ENSG00000198836 + + + Genatlas + OPA1 + + + HGNC + 8140 + + + OMIM + 605290 + + + SwissProt + O60313 + + + ClinVar + OPA1 + + + + + 3q29 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 28969390[PMID] + + dynamin 1 like + DNM1L + + DRP1 + DVLP + DYMPLE + HDYNIV + VPS1 + + + gene with protein product + + + + ClinVar + DNM1L + + + Ensembl + ENSG00000087470 + + + Genatlas + DNM1L + + + HGNC + 2973 + + + OMIM + 603850 + + + Reactome + O00429 + + + SwissProt + O00429 + + + + + 12p11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98619 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98619 + Rare isolated myopia + + Disease + + + Disorder + + + + 24891338[PMID] + + solute carrier family 39 member 5 + SLC39A5 + + ZIP5 + ZRT/IRT-like protein 5 + zinc transporter 5 + + + gene with protein product + + + + SwissProt + Q6ZMH5 + + + HGNC + 20502 + + + OMIM + 608730 + + + Ensembl + ENSG00000139540 + + + IUPHAR + 1184 + + + + + 12q13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23643385[PMID] + + synthesis of cytochrome C oxidase 2 + SCO2 + + SCO1L + + + gene with protein product + + + + ClinVar + SCO2 + + + Genatlas + SCO2 + + + HGNC + 10604 + + + Ensembl + ENSG00000284194 + + + OMIM + 604272 + + + Reactome + O43819 + + + SwissProt + O43819 + + + + + 22q13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21885030[PMID] + + prolyl 3-hydroxylase 2 + P3H2 + + FLJ10718 + MLAT4 + procollagen-proline 3-dioxygenase 2 + + + gene with protein product + + + + SwissProt + Q8IVL5 + + + ClinVar + LEPREL1 + + + Ensembl + ENSG00000090530 + + + Genatlas + LEPREL1 + + + HGNC + 19317 + + + OMIM + 610341 + + + Reactome + Q8IVL5 + + + + + 3q28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23830514[PMID] + + LDL receptor related protein associated protein 1 + LRPAP1 + + HBP44 + Alpha-2-MRAP + + + gene with protein product + + + + Ensembl + ENSG00000163956 + + + Genatlas + LRPAP1 + + + HGNC + 6701 + + + OMIM + 104225 + + + SwissProt + P30533 + + + Reactome + P30533 + + + ClinVar + LRPAP1 + + + + + 4p16.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 583602 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583602 + Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency + + Etiological subtype + + + Subtype of disorder + + + + 25152457[PMID] + + phosphoserine aminotransferase 1 + PSAT1 + + PSAT + PSA + phosphoserine transaminase + + + gene with protein product + + + + Ensembl + ENSG00000135069 + + + Genatlas + PSAT1 + + + HGNC + 19129 + + + OMIM + 610936 + + + Reactome + Q9Y617 + + + SwissProt + Q9Y617 + + + ClinVar + PSAT1 + + + + + 9q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 583607 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583607 + Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency + + Etiological subtype + + + Subtype of disorder + + + + 24836451[PMID] + + phosphoglycerate dehydrogenase + PHGDH + + PDG + PGDH + SERA + D-3-phosphoglycerate dehydrogenase + + + gene with protein product + + + + ClinVar + PHGDH + + + Ensembl + ENSG00000092621 + + + Genatlas + PHGDH + + + HGNC + 8923 + + + OMIM + 606879 + + + Reactome + O43175 + + + SwissProt + O43175 + + + + + 1p12 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 583612 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583612 + Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency + + Etiological subtype + + + Subtype of disorder + + + + 25152457[PMID] + + phosphoserine phosphatase + PSPH + + + + gene with protein product + + + + ClinVar + PSPH + + + Ensembl + ENSG00000146733 + + + Genatlas + PSPH + + + HGNC + 9577 + + + OMIM + 172480 + + + Reactome + P78330 + + + SwissProt + P78330 + + + + + 7p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98795 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98795 + Angelman syndrome due to paternal uniparental disomy of chromosome 15 + + Etiological subtype + + + Subtype of disorder + + + + 22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID] + + ubiquitin protein ligase E3A + UBE3A + + ANCR + AS + Angelman syndrome + E6-AP + FLJ26981 + + + gene with protein product + + + + ClinVar + UBE3A + + + Ensembl + ENSG00000114062 + + + Genatlas + UBE3A + + + HGNC + 12496 + + + OMIM + 601623 + + + Reactome + Q05086 + + + SwissProt + Q05086 + + + + + 15q11.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 98794 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98794 + Angelman syndrome due to maternal 15q11q13 deletion + + Etiological subtype + + + Subtype of disorder + + + + 22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID] + + ubiquitin protein ligase E3A + UBE3A + + ANCR + AS + Angelman syndrome + E6-AP + FLJ26981 + + + gene with protein product + + + + ClinVar + UBE3A + + + Ensembl + ENSG00000114062 + + + Genatlas + UBE3A + + + HGNC + 12496 + + + OMIM + 601623 + + + Reactome + Q05086 + + + SwissProt + Q05086 + + + + + 15q11.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 10905897[PMID]_20301323[PMID] + + OCA2 melanosomal transmembrane protein + OCA2 + + BEY + BEY1 + BEY2 + EYCL + P-protein + melanocyte-specific transporter protein + SLC13B1 + + + gene with protein product + + + + Reactome + Q04671 + + + ClinVar + OCA2 + + + Ensembl + ENSG00000104044 + + + Genatlas + OCA2 + + + HGNC + 8101 + + + OMIM + 611409 + + + SwissProt + Q04671 + + + + + 15q12-q13.1 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 98791 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98791 + Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 + + Malformation syndrome + + + Disorder + + + + + + hemoglobin subunit alpha 2 + HBA2 + + HBA-T2 + + + gene with protein product + + + + ClinVar + HBA2 + + + Ensembl + ENSG00000188536 + + + Genatlas + HBA2 + + + HGNC + 4824 + + + OMIM + 141850 + + + Reactome + P69905 + + + SwissProt + P69905 + + + + + 16p13.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + hemoglobin subunit alpha 1 + HBA1 + + HBA-T3 + + + gene with protein product + + + + ClinVar + HBA1 + + + Ensembl + ENSG00000206172 + + + Genatlas + HBA1 + + + HGNC + 4823 + + + OMIM + 141800 + + + Reactome + P69905 + + + SwissProt + P69905 + + + + + 16p13.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 98806 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98806 + Primary dystonia, DYT6 type + + Disease + + + Disorder + + + + 20301334[PMID] + + THAP domain containing 1 + THAP1 + + 4833431A01Rik + FLJ10477 + + + gene with protein product + + + + Ensembl + ENSG00000131931 + + + Genatlas + THAP1 + + + HGNC + 20856 + + + OMIM + 609520 + + + SwissProt + Q9NVV9 + + + Reactome + Q9NVV9 + + + ClinVar + THAP1 + + + + + 8p11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98805 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98805 + Primary dystonia, DYT4 type + + Disease + + + Disorder + + + + + + tubulin beta 4A class IVa + TUBB4A + + beta-5 + class IVa beta-tubulin + + + gene with protein product + + + + Ensembl + ENSG00000104833 + + + Genatlas + TUBB4A + + + HGNC + 20774 + + + OMIM + 602662 + + + Reactome + P04350 + + + SwissProt + P04350 + + + ClinVar + TUBB4A + + + + + 19p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98784 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98784 + Sleep-related hypermotor epilepsy + + Disease + + + Disorder + + + + 7550350[PMID]_20301348[PMID] + + cholinergic receptor nicotinic alpha 4 subunit + CHRNA4 + + BFNC + acetylcholine receptor, nicotinic, alpha 4 (neuronal) + + + gene with protein product + + + + Reactome + P43681 + + + SwissProt + P43681 + + + Ensembl + ENSG00000101204 + + + Genatlas + CHRNA4 + + + HGNC + 1958 + + + IUPHAR + 465 + + + OMIM + 118504 + + + ClinVar + CHRNA4 + + + + + 20q13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 16826524[PMID]_20301348[PMID] + + cholinergic receptor nicotinic alpha 2 subunit + CHRNA2 + + acetylcholine receptor, nicotinic, alpha 2 (neuronal) + + + gene with protein product + + + + ClinVar + CHRNA2 + + + Ensembl + ENSG00000120903 + + + Genatlas + CHRNA2 + + + HGNC + 1956 + + + IUPHAR + 463 + + + OMIM + 118502 + + + Reactome + Q15822 + + + SwissProt + Q15822 + + + + + 8p21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 11062464[PMID]_20301348[PMID] + + cholinergic receptor nicotinic beta 2 subunit + CHRNB2 + + acetylcholine receptor, nicotinic, beta 2 (neuronal) + + + gene with protein product + + + + ClinVar + CHRNB2 + + + Ensembl + ENSG00000160716 + + + Genatlas + CHRNB2 + + + HGNC + 1962 + + + IUPHAR + 472 + + + OMIM + 118507 + + + Reactome + P17787 + + + SwissProt + P17787 + + + + + 1q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23086396[PMID] + + potassium sodium-activated channel subfamily T member 1 + KCNT1 + + KCa4.1 + KIAA1422 + SLACK + Sequence like a calcium-activated K+ channel + Slo2.2 + + + gene with protein product + + + + Ensembl + ENSG00000107147 + + + Genatlas + KCNT1 + + + HGNC + 18865 + + + IUPHAR + 385 + + + OMIM + 608167 + + + SwissProt + Q5JUK3 + + + ClinVar + KCNT1 + + + + + 9q34.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23542697[PMID]_23542701[PMID] + + DEP domain containing 5, GATOR1 subcomplex subunit + DEPDC5 + + DEP.5 + KIAA0645 + + + gene with protein product + + + + Ensembl + ENSG00000100150 + + + Genatlas + DEPDC5 + + + HGNC + 18423 + + + OMIM + 614191 + + + SwissProt + O75140 + + + ClinVar + DEPDC5 + + + + + 22q12.2-q12.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 16222669[PMID]_20301348[PMID] + + corticotropin releasing hormone + CRH + + CRF + CRH1 + corticoliberin + corticotropin-releasing factor + + + gene with protein product + + + + ClinVar + CRH + + + Ensembl + ENSG00000147571 + + + Genatlas + CRH + + + HGNC + 2355 + + + OMIM + 122560 + + + Reactome + P06850 + + + SwissProt + P06850 + + + + + 8q13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 29108277[PMID] + + calcium binding protein 4 + CABP4 + + CSNB2B + + + gene with protein product + + + + Ensembl + ENSG00000175544 + + + Genatlas + CABP4 + + + HGNC + 1386 + + + OMIM + 608965 + + + SwissProt + P57796 + + + ClinVar + CABP4 + + + + + 11q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98764 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98764 + Spinocerebellar ataxia type 27A + + Disease + + + Disorder + + + + + + fibroblast growth factor 14 + FGF14 + + FHF4 + SCA27 + + + gene with protein product + + + + Ensembl + ENSG00000102466 + + + Genatlas + FGF14 + + + HGNC + 3671 + + + OMIM + 601515 + + + Reactome + Q92915 + + + SwissProt + Q92915 + + + ClinVar + FGF14 + + + + + 13q33.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98763 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98763 + Spinocerebellar ataxia type 14 + + Disease + + + Disorder + + + + + + protein kinase C gamma + PRKCG + + MGC57564 + PKC-gamma + PKCC + PKC? + PKCγ + + + gene with protein product + + + + Ensembl + ENSG00000126583 + + + Genatlas + PRKCG + + + HGNC + 9402 + + + IUPHAR + 1484 + + + OMIM + 176980 + + + Reactome + P05129 + + + SwissProt + P05129 + + + ClinVar + PRKCG + + + + + 19q13.42 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98766 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98766 + Spinocerebellar ataxia type 5 + + Disease + + + Disorder + + + + 20301317[PMID] + + spectrin beta, non-erythrocytic 2 + SPTBN2 + + + + gene with protein product + + + + Reactome + O15020 + + + SwissProt + O15020 + + + Ensembl + ENSG00000173898 + + + Genatlas + SPTBN2 + + + HGNC + 11276 + + + OMIM + 604985 + + + ClinVar + SPTBN2 + + + + + 11q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98765 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98765 + Spinocerebellar ataxia type 4 + + Disease + + + Disorder + + + + 21267591[PMID]_18293026[PMID]_20301317[PMID] + + pleckstrin homology and RhoGEF domain containing G4 + PLEKHG4 + + ARHGEF44 + DKFZP434I216 + puratrophin-1 + + + gene with protein product + + + + Reactome + Q58EX7 + + + Ensembl + ENSG00000196155 + + + Genatlas + PLEKHG4 + + + HGNC + 24501 + + + OMIM + 609526 + + + SwissProt + Q58EX7 + + + ClinVar + PLEKHG4 + + + + + 16q22.1 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 98760 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98760 + Spinocerebellar ataxia type 8 + + Disease + + + Disorder + + + + + + ataxin 8 + ATXN8 + + + + gene with protein product + + + + Ensembl + ENSG00000288330 + + + ClinVar + ATXN8 + + + Genatlas + ATXN8 + + + HGNC + 32925 + + + OMIM + 613289 + + + SwissProt + Q156A1 + + + + + 13q21.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + ATXN8 opposite strand lncRNA + ATXN8OS + + NCRNA00003 + non-protein coding RNA 3 + + + Non-coding RNA + + + + ClinVar + ATXN8OS + + + SwissProt + P0DMR3 + + + Ensembl + ENSG00000230223 + + + Genatlas + ATXN8OS + + + HGNC + 10561 + + + OMIM + 603680 + + + + + 13q21.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98759 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98759 + Spinocerebellar ataxia type 17 + + Disease + + + Disorder + + + + + + TATA-box binding protein + TBP + + TFIID + Spinocerebellar ataxia 17 + TBP1 + + + gene with protein product + + + + Ensembl + ENSG00000112592 + + + Genatlas + TBP + + + HGNC + 11588 + + + OMIM + 600075 + + + Reactome + P20226 + + + SwissProt + P20226 + + + ClinVar + TBP + + + + + 6q27 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98762 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98762 + Spinocerebellar ataxia type 12 + + Disease + + + Disorder + + + + + + protein phosphatase 2 regulatory subunit Bbeta + PPP2R2B + + PP2A subunit B isoform beta + PR52B + PR55-BETA + B55beta + + + gene with protein product + + + + Reactome + Q00005 + + + ClinVar + PPP2R2B + + + Ensembl + ENSG00000156475 + + + Genatlas + PPP2R2B + + + HGNC + 9305 + + + OMIM + 604325 + + + SwissProt + Q00005 + + + + + 5q32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98761 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98761 + Spinocerebellar ataxia type 10 + + Disease + + + Disorder + + + + + + ataxin 10 + ATXN10 + + E46L + FLJ37990 + ATX10 + + + gene with protein product + + + + Reactome + Q9UBB4 + + + ClinVar + ATXN10 + + + Ensembl + ENSG00000130638 + + + Genatlas + ATXN10 + + + HGNC + 10549 + + + OMIM + 611150 + + + SwissProt + Q9UBB4 + + + + + 22q13.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98772 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98772 + Spinocerebellar ataxia type 19/22 + + Disease + + + Disorder + + + + 22890214[PMID] + + potassium voltage-gated channel subfamily D member 3 + KCND3 + + KSHIVB + Kv4.3 + + + gene with protein product + + + + ClinVar + KCND3 + + + Ensembl + ENSG00000171385 + + + Genatlas + KCND3 + + + HGNC + 6239 + + + IUPHAR + 554 + + + OMIM + 605411 + + + Reactome + Q9UK17 + + + SwissProt + Q9UK17 + + + + + 1p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98771 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98771 + Spinocerebellar ataxia type 18 + + Disease + + + Disorder + + + + + + interferon related developmental regulator 1 + IFRD1 + + PC4 + TIS7 + + + gene with protein product + + + + ClinVar + IFRD1 + + + Ensembl + ENSG00000006652 + + + Genatlas + IFRD1 + + + HGNC + 5456 + + + OMIM + 603502 + + + SwissProt + O00458 + + + + + 7q31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98773 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98773 + Spinocerebellar ataxia type 21 + + Disease + + + Disorder + + + + 25070513[PMID] + + transmembrane protein 240 + TMEM240 + + + + gene with protein product + + + + Ensembl + ENSG00000205090 + + + Genatlas + TMEM240 + + + HGNC + 25186 + + + OMIM + 616101 + + + SwissProt + Q5SV17 + + + ClinVar + TMEM240 + + + + + 1p36.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98768 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98768 + Spinocerebellar ataxia type 13 + + Disease + + + Disorder + + + + + + potassium voltage-gated channel subfamily C member 3 + KCNC3 + + Kv3.3 + + + gene with protein product + + + + HGNC + 6235 + + + IUPHAR + 550 + + + OMIM + 176264 + + + Reactome + Q14003 + + + SwissProt + Q14003 + + + Ensembl + ENSG00000131398 + + + Genatlas + KCNC3 + + + ClinVar + KCNC3 + + + + + 19q13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98767 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98767 + Spinocerebellar ataxia type 11 + + Disease + + + Disorder + + + + 20301317[PMID] + + tau tubulin kinase 2 + TTBK2 + + KIAA0847 + + + gene with protein product + + + + ClinVar + TTBK2 + + + SwissProt + Q6IQ55 + + + Ensembl + ENSG00000128881 + + + Genatlas + TTBK2 + + + HGNC + 19141 + + + IUPHAR + 2263 + + + OMIM + 611695 + + + Reactome + Q6IQ55 + + + + + 15q15.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98769 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98769 + Spinocerebellar ataxia type 15/16 + + Disease + + + Disorder + + + + + + inositol 1,4,5-trisphosphate receptor type 1 + ITPR1 + + ACV + IP3R1 + Insp3r1 + PPP1R94 + protein phosphatase 1, regulatory subunit 94 + + + gene with protein product + + + + Ensembl + ENSG00000150995 + + + Genatlas + ITPR1 + + + HGNC + 6180 + + + OMIM + 147265 + + + Reactome + Q14643 + + + SwissProt + Q14643 + + + ClinVar + ITPR1 + + + IUPHAR + 743 + + + + + 3p26.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 580940 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580940 + QRICH1-related intellectual disability-chondrodysplasia syndrome + + Malformation syndrome + + + Disorder + + + + 28692176[PMID]_30281152[PMID] + + glutamine rich 1 + QRICH1 + + FLJ20259 + AB-DIP + VERBRAS + + + gene with protein product + + + + HGNC + 24713 + + + Ensembl + ENSG00000198218 + + + SwissProt + Q2TAL8 + + + OMIM + 617387 + + + Reactome + Q2TAL8 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 580933 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580933 + Lethal brain and heart developmental defects + + Malformation syndrome + + + Disorder + + + + 29555651[PMID] + + sirtuin 6 + SIRT6 + + + + gene with protein product + + + + HGNC + 14934 + + + Ensembl + ENSG00000077463 + + + SwissProt + Q8N6T7 + + + Reactome + Q8N6T7 + + + IUPHAR + 2712 + + + OMIM + 606211 + + + + + 19p13.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 98755 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98755 + Spinocerebellar ataxia type 1 + + Disease + + + Disorder + + + + + + ataxin 1 + ATXN1 + + ATX1 + D6S504E + + + gene with protein product + + + + Ensembl + ENSG00000124788 + + + Genatlas + ATXN1 + + + HGNC + 10548 + + + OMIM + 601556 + + + ClinVar + ATXN1 + + + Reactome + P54253 + + + SwissProt + P54253 + + + + + 6p22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98756 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98756 + Spinocerebellar ataxia type 2 + + Disease + + + Disorder + + + + + + ataxin 2 + ATXN2 + + ATX2 + trinucleotide repeat containing 13 + + + gene with protein product + + + + Reactome + Q99700 + + + ClinVar + ATXN2 + + + Ensembl + ENSG00000204842 + + + Genatlas + ATXN2 + + + HGNC + 10555 + + + OMIM + 601517 + + + SwissProt + Q99700 + + + + + 12q24.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98758 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98758 + Spinocerebellar ataxia type 6 + + Disease + + + Disorder + + + + 20301317[PMID] + + calcium voltage-gated channel subunit alpha1 A + CACNA1A + + APCA + Cav2.1 + EA2 + FHM + HPCA + + + gene with protein product + + + + ClinVar + CACNA1A + + + Ensembl + ENSG00000141837 + + + Genatlas + CACNA1A + + + HGNC + 1388 + + + IUPHAR + 532 + + + OMIM + 601011 + + + Reactome + O00555 + + + SwissProt + O00555 + + + + + 19p13.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 581271 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581271 + Cramp-fasciculation syndrome + + Disease + + + Disorder + + + + 28436534[PMID] + + transient receptor potential cation channel subfamily A member 1 + TRPA1 + + + + gene with protein product + + + + ClinVar + TRPA1 + + + SwissProt + O75762 + + + Ensembl + ENSG00000104321 + + + Genatlas + TRPA1 + + + HGNC + 497 + + + IUPHAR + 485 + + + OMIM + 604775 + + + Reactome + O75762 + + + + + 8q21.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98754 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98754 + Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 + + Etiological subtype + + + Subtype of disorder + + + + 20301505[PMID] + + small nuclear ribonucleoprotein polypeptide N + SNRPN + + HCERN3 + RT-LI + SM protein N + SM-D + SMN + SNRNP-N + SNURF-SNRPN + small nuclear ribonucleoprotein N + tissue-specific splicing protein + + + gene with protein product + + + + Reactome + P63162 + + + Ensembl + ENSG00000128739 + + + Genatlas + SNRPN + + + HGNC + 11164 + + + OMIM + 182279 + + + SwissProt + P63162 + + + ClinVar + SNRPN + + + + + 15q11.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 20301505[PMID] + + MAGE family member L2 + MAGEL2 + + nM15 + + + gene with protein product + + + + Reactome + Q9UJ55 + + + ClinVar + MAGEL2 + + + Ensembl + ENSG00000254585 + + + Genatlas + MAGEL2 + + + HGNC + 6814 + + + OMIM + 605283 + + + SwissProt + Q9UJ55 + + + + + 15q11.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 20301505[PMID] + + necdin, MAGE family member + NDN + + HsT16328 + PWCR + Prader-Willi syndrome chromosome region + + + gene with protein product + + + + Reactome + Q99608 + + + ClinVar + NDN + + + Ensembl + ENSG00000182636 + + + Genatlas + NDN + + + HGNC + 7675 + + + OMIM + 602117 + + + SwissProt + Q99608 + + + + + 15q11.2 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 20301505[PMID] + + OCA2 melanosomal transmembrane protein + OCA2 + + BEY + BEY1 + BEY2 + EYCL + P-protein + melanocyte-specific transporter protein + SLC13B1 + + + gene with protein product + + + + Reactome + Q04671 + + + ClinVar + OCA2 + + + Ensembl + ENSG00000104044 + + + Genatlas + OCA2 + + + HGNC + 8101 + + + OMIM + 611409 + + + SwissProt + Q04671 + + + + + 15q12-q13.1 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 576232 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576232 + Partial atrioventricular septal defect with ventricular hypoplasia + + Clinical subtype + + + Subtype of disorder + + + + 17643447[PMID] + + GATA binding protein 4 + GATA4 + + + + gene with protein product + + + + ClinVar + GATA4 + + + Ensembl + ENSG00000136574 + + + Genatlas + GATA4 + + + HGNC + 4173 + + + OMIM + 600576 + + + Reactome + P43694 + + + SwissProt + P43694 + + + + + 8p23.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 576235 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576235 + Partial atrioventricular septal defect without ventricular hypoplasia + + Clinical subtype + + + Subtype of disorder + + + + 12632326[PMID]_15096951[PMID]_21080147[PMID] + + CRELD disulfide isomerase 1 + CRELD1 + + CIRRIN + + + gene with protein product + + + + ClinVar + CRELD1 + + + Ensembl + ENSG00000163703 + + + Genatlas + CRELD1 + + + HGNC + 14630 + + + OMIM + 607170 + + + SwissProt + Q96HD1 + + + + + 3p25.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 576227 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576227 + Complete atrioventricular septal defect without ventricular hypoplasia + + Clinical subtype + + + Subtype of disorder + + + + 35719119[PMID] + + myocyte enhancer factor 2C + MEF2C + + + + gene with protein product + + + + Reactome + Q06413 + + + SwissProt + Q06413 + + + Ensembl + ENSG00000081189 + + + Genatlas + MEF2C + + + HGNC + 6996 + + + OMIM + 600662 + + + ClinVar + MEF2C + + + + + 5q14.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 575553 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=575553 + Cathepsin A-related arteriopathy-strokes-leukoencephalopathy + + Disease + + + Disorder + + + + 31177426[PMID] + + cathepsin A + CTSA + + carboxypeptidase C + carboxypeptidase Y-like kininase + carboxypeptidase-L + deamidase + lysosomal carboxypeptidase A + lysosomal protective protein + urinary kininase + + + gene with protein product + + + + ClinVar + CTSA + + + Ensembl + ENSG00000064601 + + + Genatlas + CTSA + + + HGNC + 9251 + + + IUPHAR + 1581 + + + OMIM + 613111 + + + Reactome + P10619 + + + SwissProt + P10619 + + + + + 20q13.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 576349 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576349 + NLRC4-related familial cold autoinflammatory syndrome + + Disease + + + Disorder + + + + 25385754[PMID]_31953710[PMID]_28957823[PMID]_29247997[PMID]_29496273[PMID] + + NLR family CARD domain containing 4 + NLRC4 + + CLAN + CLAN1 + CLANA + CLANB + CLANC + CLAND + CLR2.1 + NOD-like receptor C4 + ipaf + nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4 + + + gene with protein product + + + + Ensembl + ENSG00000091106 + + + ClinVar + NLRC4 + + + Genatlas + NLRC4 + + + HGNC + 16412 + + + IUPHAR + 1782 + + + OMIM + 606831 + + + Reactome + Q9NPP4 + + + SwissProt + Q9NPP4 + + + + + 2p22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 576283 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576283 + SATB2-associated syndrome due to a pathogenic variant + + Etiological subtype + + + Subtype of disorder + + + + 29023086[PMID]_31021519[PMID] + + SATB homeobox 2 + SATB2 + + FLJ21474 + KIAA1034 + + + gene with protein product + + + + Reactome + Q9UPW6 + + + Ensembl + ENSG00000119042 + + + Genatlas + SATB2 + + + HGNC + 21637 + + + OMIM + 608148 + + + SwissProt + Q9UPW6 + + + ClinVar + SATB2 + + + + + 2q33.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 574957 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=574957 + Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency + + Disease + + + Disorder + + + + 30264912[PMID] + + Janus kinase 1 + JAK1 + + JAK1A + JTK3 + + + gene with protein product + + + + HGNC + 6190 + + + SwissProt + P23458 + + + OMIM + 147795 + + + ClinVar + JAK1 + + + IUPHAR + 2047 + + + Ensembl + ENSG00000162434 + + + Genatlas + JAK1 + + + + + 1p31.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 574918 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=574918 + Predisposition to severe viral infection due to IRF7 deficiency + + Disease + + + Disorder + + + + 25814066[PMID] + + interferon regulatory factor 7 + IRF7 + + + + gene with protein product + + + + Genatlas + IRF7 + + + SwissProt + Q92985 + + + OMIM + 605047 + + + ClinVar + IRF7 + + + HGNC + 6122 + + + Reactome + Q92985 + + + Ensembl + ENSG00000185507 + + + + + 11p15.5 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 572385 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572385 + Brachydactyly type B1 + + Clinical subtype + + + Subtype of disorder + + + + 24954533[PMID]_18554391[PMID] + + receptor tyrosine kinase like orphan receptor 2 + ROR2 + + + + gene with protein product + + + + Ensembl + ENSG00000169071 + + + Genatlas + ROR2 + + + HGNC + 10257 + + + IUPHAR + 1846 + + + OMIM + 602337 + + + Reactome + Q01974 + + + SwissProt + Q01974 + + + ClinVar + ROR2 + + + + + 9q22.31 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 572361 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572361 + Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 + + Clinical subtype + + + Subtype of disorder + + + + 30029625[PMID]_31823134[PMID] + + forkhead box L2 + FOXL2 + + BPES1 + + + gene with protein product + + + + Ensembl + ENSG00000183770 + + + Genatlas + FOXL2 + + + HGNC + 1092 + + + ClinVar + FOXL2 + + + OMIM + 605597 + + + SwissProt + P58012 + + + Reactome + P58012 + + + + + 3q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 572428 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572428 + Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia + + Disease + + + Disorder + + + + 29455859[PMID]_31953170[PMID] + + 2'-5'-oligoadenylate synthetase 1 + OAS1 + + 2'-5' oligoadenylate synthase 1 + IFI-4 + OIASI + + + gene with protein product + + + + ClinVar + OAS1 + + + HGNC + 8086 + + + Ensembl + ENSG00000089127 + + + SwissProt + P00973 + + + OMIM + 164350 + + + Genatlas + OAS1 + + + Reactome + P00973 + + + + + 12q24.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 98434 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98434 + Hereditary combined deficiency of vitamin K-dependent clotting factors + + Disease + + + Disorder + + + + 16720838[PMID] + + gamma-glutamyl carboxylase + GGCX + + VKCFD1 + vitamin K-dependent gamma-carboxylase + peptidyl-glutamate 4-carboxylase + + + gene with protein product + + + + ClinVar + GGCX + + + Ensembl + ENSG00000115486 + + + Genatlas + GGCX + + + HGNC + 4247 + + + IUPHAR + 1268 + + + OMIM + 137167 + + + Reactome + P38435 + + + SwissProt + P38435 + + + + + 2p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 14765194[PMID] + + vitamin K epoxide reductase complex subunit 1 + VKORC1 + + vitamin K oxidoreductase + + + gene with protein product + + + + Ensembl + ENSG00000167397 + + + Genatlas + VKORC1 + + + HGNC + 23663 + + + IUPHAR + 2645 + + + OMIM + 608547 + + + Reactome + Q9BQB6 + + + SwissProt + Q9BQB6 + + + ClinVar + VKORC1 + + + + + 16p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 572543 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572543 + RFVT2-related riboflavin transporter deficiency + + Clinical subtype + + + Subtype of disorder + + + + 26973221[PMID]_30793323[PMID] + + solute carrier family 52 member 2 + SLC52A2 + + HuPAR-1 + G-protein coupled receptor 41 + D15Ertd747e + FLJ11856 + GPCR41 + PAR1 + RFVT2 + hRFT3 + human porcine endogenous retrovirus subgroup A receptor 1 + RFT3 + + + gene with protein product + + + + Reactome + Q9HAB3 + + + IUPHAR + 2572 + + + Ensembl + ENSG00000185803 + + + Genatlas + SLC52A2 + + + HGNC + 30224 + + + OMIM + 607882 + + + SwissProt + Q9HAB3 + + + ClinVar + SLC52A2 + + + + + 8q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 572550 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572550 + RFVT3-related riboflavin transporter deficiency + + Clinical subtype + + + Subtype of disorder + + + + 26973221[PMID]_30793323[PMID] + + solute carrier family 52 member 3 + SLC52A3 + + RFT2 + RFVT3 + bA371L19.1 + hRFT2 + hypothetical protein LOC113278 + + + gene with protein product + + + + IUPHAR + 2573 + + + ClinVar + SLC52A3 + + + Ensembl + ENSG00000101276 + + + Genatlas + SLC52A3 + + + HGNC + 16187 + + + OMIM + 613350 + + + Reactome + Q9NQ40 + + + SwissProt + Q9NQ40 + + + + + 20p13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 572773 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572773 + Microcephaly-short stature-limb abnormalities syndrome + + Clinical subtype + + + Subtype of disorder + + + + 28191891[PMID]_28630177[PMID]_31191207[PMID]_31320746[PMID] + + DNA replication fork stabilization factor DONSON + DONSON + + B17 + C2TA + DKFZP434M035 + + + gene with protein product + + + + ClinVar + DONSON + + + HGNC + 2993 + + + Ensembl + ENSG00000159147 + + + SwissProt + Q9NYP3 + + + OMIM + 611428 + + + Genatlas + DONSON + + + + + 21q22.11 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 572798 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572798 + WARS2-related combined oxidative phosphorylation defect + + Disease + + + Disorder + + + + 28236339[PMID]_29783990[PMID] + + tryptophanyl tRNA synthetase 2, mitochondrial + WARS2 + + TrpRS + mtTrpRS + tryptophan tRNA ligase 2, mitochondrial + + + gene with protein product + + + + Genatlas + WARS2 + + + HGNC + 12730 + + + SwissProt + Q9UGM6 + + + OMIM + 604733 + + + Ensembl + ENSG00000116874 + + + Reactome + Q9UGM6 + + + ClinVar + WARS2 + + + + + 1p12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 572768 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572768 + Microcephaly-micromelia syndrome + + Clinical subtype + + + Subtype of disorder + + + + 28191891[PMID]_28630177[PMID]_31191207[PMID]_31320746[PMID] + + DNA replication fork stabilization factor DONSON + DONSON + + B17 + C2TA + DKFZP434M035 + + + gene with protein product + + + + ClinVar + DONSON + + + HGNC + 2993 + + + Ensembl + ENSG00000159147 + + + SwissProt + Q9NYP3 + + + OMIM + 611428 + + + Genatlas + DONSON + + + + + 21q22.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 572013 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572013 + Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome + + Malformation syndrome + + + Disorder + + + + 30471716[PMID]_24507697[PMID]_24932993[PMID] + + microtubule actin crosslinking factor 1 + MACF1 + + KIAA0465 + ACF7 + ABP620 + KIAA1251 + MACF + FLJ45612 + FLJ46776 + actin cross-linking factor + 620 kDa actin binding protein + macrophin 1 + trabeculin-alpha + actin cross-linking family protein 7 + postulated migration inhibitory factor + Lnc-PMIF + + + gene with protein product + + + + HGNC + 13664 + + + Ensembl + ENSG00000127603 + + + SwissProt + Q9UPN3 + + + Reactome + Q9UPN3 + + + OMIM + 608271 + + + + + 1p34.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 32097630[PMID] + + centrosomal protein 85L + CEP85L + + NY-BR-15 + bA57K17.2 + + + gene with protein product + + + + Ensembl + ENSG00000111860 + + + OMIM + 618865 + + + SwissProt + Q5SZL2 + + + HGNC + 21638 + + + + + 6q22.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 572333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572333 + Blepharophimosis-ptosis-epicanthus inversus syndrome plus + + Malformation syndrome + + + Disorder + + + + 21934608[PMID]_25032695[PMID]_24725350[PMID] + + forkhead box L2 + FOXL2 + + BPES1 + + + gene with protein product + + + + Ensembl + ENSG00000183770 + + + Genatlas + FOXL2 + + + HGNC + 1092 + + + ClinVar + FOXL2 + + + OMIM + 605597 + + + SwissProt + P58012 + + + Reactome + P58012 + + + + + 3q22.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 572354 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572354 + Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 + + Clinical subtype + + + Subtype of disorder + + + + 30029625[PMID]_31823134[PMID] + + forkhead box L2 + FOXL2 + + BPES1 + + + gene with protein product + + + + Ensembl + ENSG00000183770 + + + Genatlas + FOXL2 + + + HGNC + 1092 + + + ClinVar + FOXL2 + + + OMIM + 605597 + + + SwissProt + P58012 + + + Reactome + P58012 + + + + + 3q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 570491 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570491 + QRSL1-related combined oxidative phosphorylation defect + + Disease + + + Disorder + + + + 30237576[PMID]_30283131[PMID] + + glutaminyl-tRNA amidotransferase subunit QRSL1 + QRSL1 + + DKFZP564C1278 + FLJ10989 + FLJ12189 + FLJ13447 + GatA + glutamyl-tRNA(Gln) amidotransferase, subunit A + GATA + + + gene with protein product + + + + ClinVar + QRSL1 + + + HGNC + 21020 + + + Ensembl + ENSG00000130348 + + + SwissProt + Q9H0R6 + + + OMIM + 617209 + + + Genatlas + QRSL1 + + + + + 6q21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 570422 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570422 + Galactose mutarotase deficiency + + Disease + + + Disorder + + + + 30451973[PMID] + + galactose mutarotase + GALM + + aldose 1-epimerase + aldose mutarotase + galactomutarotase + + + gene with protein product + + + + HGNC + 24063 + + + Ensembl + ENSG00000143891 + + + SwissProt + Q96C23 + + + OMIM + 137030 + + + + + 2p22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 570371 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570371 + Bartter syndrome type 5 + + Clinical subtype + + + Subtype of disorder + + + + 27120771[PMID] + + MAGE family member D2 + MAGED2 + + 11B6 + BCG1 + breast cancer associated gene 1 + HCA10 + hepatocellular carcinoma associated protein + hepatocellular carcinoma-associated protein HCA10 + JCL-1 + MAGE-D2 + MAGED + melanoma-associated antigen D2 + MGC8386 + + + gene with protein product + + + + HGNC + 16353 + + + OMIM + 300470 + + + Genatlas + MAGED2 + + + SwissProt + Q9UNF1 + + + Ensembl + ENSG00000102316 + + + Reactome + Q9UNF1 + + + ClinVar + MAGED2 + + + + + Xp11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 708895 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708895 + Tetrahydrobiopterin-unresponsive phenylketonuria + + Clinical subtype + + + Subtype of disorder + + + + 29025426[PMID] + + phenylalanine hydroxylase + PAH + + PH + phenylalanine 4-monooxygenase + phenylalanine-4-hydroxylase + L-phenylalanine hydroxylase + Phe-4-monooxygenase + + + gene with protein product + + + + Ensembl + ENSG00000171759 + + + Genatlas + PAH + + + HGNC + 8582 + + + IUPHAR + 1240 + + + OMIM + 612349 + + + Reactome + P00439 + + + SwissProt + P00439 + + + ClinVar + PAH + + + + + 12q23.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 708203 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708203 + Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome + + Malformation syndrome + + + Disorder + + + + 26752331[PMID] + + structural maintenance of chromosomes 1A + SMC1A + + DXS423E + KIAA0178 + SB1.8 + Smcb + + + gene with protein product + + + + ClinVar + SMC1A + + + Ensembl + ENSG00000072501 + + + Genatlas + SMC1A + + + HGNC + 11111 + + + OMIM + 300040 + + + Reactome + Q14683 + + + SwissProt + Q14683 + + + + + Xp11.22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 708208 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708208 + Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome + + Malformation syndrome + + + Disorder + + + + 31353023[PMID] + + RNA polymerase II subunit A + POLR2A + + POLRA + RNA polymerase II subunit B1 + RPB1 + DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit + + + gene with protein product + + + + Ensembl + ENSG00000181222 + + + OMIM + 180660 + + + SwissProt + P24928 + + + HGNC + 9187 + + + + + 17p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 714385 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714385 + Global developmental delay-high pain tolerance-intellectual disability syndrome + + Disease + + + Disorder + + + + 24726472[PMID] + + DEAF1 transcription factor + DEAF1 + + NUDR + SPN + ZMYND5 + + + gene with protein product + + + + ClinVar + DEAF1 + + + Ensembl + ENSG00000177030 + + + Genatlas + DEAF1 + + + HGNC + 14677 + + + OMIM + 602635 + + + SwissProt + O75398 + + + Reactome + O75398 + + + + + 11p15.5 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 714079 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714079 + Complete congenital stationary night blindness, Schubert-Bornschein type + + Clinical subtype + + + Subtype of disorder + + + + 17405131[PMID] + + glutamate metabotropic receptor 6 + GRM6 + + CSNB1B + GPRC1F + MGLUR6 + mGlu6 + + + gene with protein product + + + + ClinVar + GRM6 + + + Ensembl + ENSG00000113262 + + + Genatlas + GRM6 + + + HGNC + 4598 + + + IUPHAR + 294 + + + OMIM + 604096 + + + Reactome + O15303 + + + SwissProt + O15303 + + + + + 5q35.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 19896109[PMID]_19896113[PMID] + + transient receptor potential cation channel subfamily M member 1 + TRPM1 + + CSNB1C + LTRPC1 + + + gene with protein product + + + + Ensembl + ENSG00000134160 + + + Genatlas + TRPM1 + + + HGNC + 7146 + + + IUPHAR + 493 + + + OMIM + 603576 + + + Reactome + Q7Z4N2 + + + SwissProt + Q7Z4N2 + + + ClinVar + TRPM1 + + + + + 15q13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22325361[PMID]_22325362[PMID] + + G protein-coupled receptor 179 + GPR179 + + CSNB1E + + + gene with protein product + + + + Ensembl + ENSG00000277399 + + + Genatlas + GPR179 + + + HGNC + 31371 + + + IUPHAR + 211 + + + OMIM + 614515 + + + SwissProt + Q6PRD1 + + + ClinVar + GPR179 + + + + + 17q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23246293[PMID] + + leucine rich repeat, Ig-like and transmembrane domains 3 + LRIT3 + + CSNB1F + FIGLER4 + FLJ44691 + Fibronectin type III, immunoglobulin and leucine rich repeat domains 4 + fibronectin type III, immunoglobulin and leucine rich repeat domains 4 + + + gene with protein product + + + + Ensembl + ENSG00000183423 + + + Genatlas + LRIT3 + + + HGNC + 24783 + + + OMIM + 615004 + + + SwissProt + Q3SXY7 + + + ClinVar + LRIT3 + + + + + 4q25 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 714070 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714070 + Incomplete congenital stationary night blindness, Schubert-Bornschein type + + Clinical subtype + + + Subtype of disorder + + + + 20301423[PMID] + + calcium voltage-gated channel subunit alpha1 F + CACNA1F + + CORDX3 + CSNB2A + CSNBX2 + Cav1.4 + JM8 + JMC8 + OA2 + + + gene with protein product + + + + Genatlas + CACNA1F + + + HGNC + 1393 + + + IUPHAR + 531 + + + OMIM + 300110 + + + Reactome + O60840 + + + SwissProt + O60840 + + + Ensembl + ENSG00000102001 + + + ClinVar + CACNA1F + + + + + Xp11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 16960802[PMID] + + calcium binding protein 4 + CABP4 + + CSNB2B + + + gene with protein product + + + + Ensembl + ENSG00000175544 + + + Genatlas + CABP4 + + + HGNC + 1386 + + + OMIM + 608965 + + + SwissProt + P57796 + + + ClinVar + CABP4 + + + + + 11q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 19578023[PMID] + + calcium voltage-gated channel auxiliary subunit alpha2delta 4 + CACNA2D4 + + alpha2delta-4 + + + gene with protein product + + + + Ensembl + ENSG00000151062 + + + Genatlas + CACNA2D4 + + + HGNC + 20202 + + + OMIM + 608171 + + + Reactome + Q7Z3S7 + + + SwissProt + Q7Z3S7 + + + ClinVar + CACNA2D4 + + + + + 12p13.33 + 1 + 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OMIM + 139330 + + + Reactome + P11488 + + + SwissProt + P11488 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 8075643[PMID] + + phosphodiesterase 6B + PDE6B + + CSNB3 + CSNBAD2 + RP40 + congenital stationary night blindness 3, autosomal dominant + rd1 + rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta + + + gene with protein product + + + + IUPHAR + 1313 + + + Ensembl + ENSG00000133256 + + + Genatlas + PDE6B + + + HGNC + 8786 + + + OMIM + 180072 + + + Reactome + P35913 + + + SwissProt + P35913 + + + ClinVar + PDE6B + + + + + 4p16.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 714484 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714484 + AGR2-related infantile-onset inflammatory bowel disease + + Disease + + + Disorder + + + + 34237462[PMID] + + anterior gradient 2, protein disulphide isomerase family member + AGR2 + + PDIA17 + AG2 + HAG-2 + XAG-2 + protein disulfide isomerase family A, member 17 + + + gene with protein product + + + + HGNC + 328 + + + Ensembl + ENSG00000106541 + + + SwissProt + O95994 + + + OMIM + 606358 + + + + + 7p21.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 714487 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714487 + Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome + + Disease + + + Disorder + + + + 29909964[PMID]_33526876[PMID] + + Wnt family member 2B + WNT2B + + XWNT2 + XWNT2, Xenopus, homolog of + wingless-type MMTV integration site family, member 13 + + + gene with protein product + + + + HGNC + 12781 + + + Ensembl + ENSG00000134245 + + + OMIM + 601968 + + + SwissProt + Q93097 + + + + + 1p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 714477 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714477 + Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome + + Disease + + + Disorder + + + + 28302725[PMID] + + ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 + ANKZF1 + + ZNF744 + Vms1 + FLJ10415 + + + gene with protein product + + + + HGNC + 25527 + + + Ensembl + ENSG00000163516 + + + OMIM + 617541 + + + SwissProt + Q9H8Y5 + + + + + 2q35 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 714481 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714481 + SCGN-related severe early-onset hereditary ulcerative colitis + + Disease + + + Disorder + + + + 31663849[PMID] + + secretagogin, EF-hand calcium binding protein + SCGN + + CALBL + calbindin-like + SECRET + DJ501N12.8 + SEGN + + + gene with protein product + + + + HGNC + 16941 + + + Ensembl + ENSG00000079689 + + + OMIM + 609202 + + + SwissProt + O76038 + + + + + 6p22.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 714496 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714496 + Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome + + Disease + + + Disorder + + + + 28368018[PMID] + + actin related protein 2/3 complex subunit 1B + ARPC1B + + ARC41 + ARP2/3 protein complex subunit p41 + actin related protein 2/3 complex, subunit 1A (41 kD) + p41-ARC + p40-ARC + + + gene with protein product + + + + HGNC + 704 + + + Ensembl + ENSG00000130429 + + + OMIM + 604223 + + + SwissProt + O15143 + + + + + 7q22.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 714652 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714652 + PCDH19 clustering epilepsy + + Disease + + + Disorder + + + + 39187419[PMID]_35503712[PMID] + + protocadherin 19 + PCDH19 + + EIEE9 + KIAA1313 + + + gene with protein product + + + + ClinVar + PCDH19 + + + Ensembl + ENSG00000165194 + + + Genatlas + PCDH19 + + + HGNC + 14270 + + + OMIM + 300460 + + + SwissProt + Q8TAB3 + + + + + Xq22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 714490 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714490 + PERCC1-related congenital intractable malabsorptive diarrhea + + Disease + + + Disorder + + + + 36076104[PMID]_38710080[PMID] + + proline and glutamate rich with coiled coil 1 + PERCC1 + + + + gene with protein product + + + + HGNC + 52293 + + + Ensembl + ENSG00000284395 + + + OMIM + 618656 + + + SwissProt + A0A1W2PR82 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 714493 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714493 + Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency + + Disease + + + Disorder + + + + 22231303[PMID] + + WAS/WASL interacting protein family member 1 + WIPF1 + + WIP + + + gene with protein product + + + + Ensembl + ENSG00000115935 + + + Genatlas + WIPF1 + + + HGNC + 12736 + + + OMIM + 602357 + + + Reactome + O43516 + + + SwissProt + O43516 + + + ClinVar + WIPF1 + + + + + 2q31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 714407 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714407 + Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome due to NFIB mutation + + Etiological subtype + + + Subtype of disorder + + + + 30388402[PMID]_36756855[PMID] + + nuclear factor I B + NFIB + + NFIB3 + NFI-RED + NFIB2 + + + gene with protein product + + + + HGNC + 7785 + + + OMIM + 600728 + + + SwissProt + O00712 + + + Ensembl + ENSG00000147862 + + + + + 9p23-p22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 714410 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714410 + CARD8-related inflammatory bowel disease + + Disease + + + Disorder + + + + 29408806[PMID] + + caspase recruitment domain family member 8 + CARD8 + + Dakar + KIAA0955 + NDPP + TUCAN + CARDINAL + + + gene with protein product + + + + HGNC + 17057 + + + Ensembl + ENSG00000105483 + + + OMIM + 609051 + + + SwissProt + Q9Y2G2 + + + + + 19q13.33 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 714399 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714399 + Global developmental delay-dental enamel defects-ataxia syndrome + + Malformation syndrome + + + Disorder + + + + 27094857[PMID] + + C-terminal binding protein 1 + CTBP1 + + BARS + brefeldin A-ribosylated substrate + + + gene with protein product + + + + HGNC + 2494 + + + OMIM + 602618 + + + SwissProt + Q13363 + + + Reactome + Q13363 + + + Ensembl + ENSG00000159692 + + + + + 4p16.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 714472 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714472 + Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome + + Disease + + + Disorder + + + + 28530713[PMID] + + BACH transcriptional regulator 2 + BACH2 + + BTBD25 + + + gene with protein product + + + + HGNC + 14078 + + + Ensembl + ENSG00000112182 + + + OMIM + 605394 + + + SwissProt + Q9BYV9 + + + + + 6q15 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 714413 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714413 + 9p23p22.2 microdeletion syndrome + + Etiological subtype + + + Subtype of disorder + + + + 36756855[PMID] + + nuclear factor I B + NFIB + + NFIB3 + NFI-RED + NFIB2 + + + gene with protein product + + + + HGNC + 7785 + + + OMIM + 600728 + + + SwissProt + O00712 + + + Ensembl + ENSG00000147862 + + + + + 9p23-p22.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 714423 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714423 + Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome + + Disease + + + Disorder + + + + 33891011[PMID] + + syntaxin binding protein 3 + STXBP3 + + UNC-18C + + + gene with protein product + + + + HGNC + 11446 + + + Ensembl + ENSG00000116266 + + + OMIM + 608339 + + + SwissProt + O00186 + + + + + 1p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 715128 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715128 + Hemoglobin E-beta-thalassemia major + + Clinical subtype + + + Subtype of disorder + + + + 15481886[PMID] + + hemoglobin subunit beta + HBB + + CD113t-C + beta-globin + + + gene with protein product + + + + ClinVar + HBB + + + HGNC + 4827 + + + OMIM + 141900 + + + Reactome + P68871 + + + SwissProt + P68871 + + + Ensembl + ENSG00000244734 + + + Genatlas + HBB + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 715125 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715125 + Hemoglobin E-beta-thalassemia intermedia + + Clinical subtype + + + Subtype of disorder + + + + 15481886[PMID] + + hemoglobin subunit beta + HBB + + CD113t-C + beta-globin + + + gene with protein product + + + + ClinVar + HBB + + + HGNC + 4827 + + + OMIM + 141900 + + + Reactome + P68871 + + + SwissProt + P68871 + + + Ensembl + ENSG00000244734 + + + Genatlas + HBB + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 714806 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714806 + Multifocal sporadic venous malformation + + Morphological anomaly + + + Disorder + + + + 19079259[PMID] + + TEK receptor tyrosine kinase + TEK + + CD202b + TIE-2 + TIE2 + VMCM1 + angiopoietin-1 receptor + + + gene with protein product + + + + Ensembl + ENSG00000120156 + + + Genatlas + TEK + + + HGNC + 11724 + + + IUPHAR + 1842 + + + OMIM + 600221 + + + Reactome + Q02763 + + + SwissProt + Q02763 + + + ClinVar + TEK + + + + + 9p21.2 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 714737 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714737 + Diffuse capillary malformation with overgrowth + + Morphological anomaly + + + Disorder + + + + 31909475[PMID] + + phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha + PIK3CA + + PI3K + + + gene with protein product + + + + Reactome + P42336 + + + SwissProt + P42336 + + + Ensembl + ENSG00000121879 + + + Genatlas + PIK3CA + + + HGNC + 8975 + + + IUPHAR + 2153 + + + OMIM + 171834 + + + ClinVar + PIK3CA + + + + + 3q26.32 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 28120216[PMID] + + G protein subunit alpha 11 + GNA11 + + FBH + FBH2 + FHH2 + + + gene with protein product + + + + Reactome + P29992 + + + SwissProt + P29992 + + + Ensembl + ENSG00000088256 + + + Genatlas + GNA11 + + + HGNC + 4379 + + + OMIM + 139313 + + + ClinVar + GNA11 + + + + + 19p13.3 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 715154 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715154 + Low oxygen affinity alpha chain hemoglobin disease + + Etiological subtype + + + Subtype of disorder + + + + 32411491[PMID]_11134494[PMID] + + hemoglobin subunit alpha 2 + HBA2 + + HBA-T2 + + + gene with protein product + + + + ClinVar + HBA2 + + + Ensembl + ENSG00000188536 + + + Genatlas + HBA2 + + + HGNC + 4824 + + + OMIM + 141850 + + + Reactome + P69905 + + + SwissProt + P69905 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 715157 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715157 + Low oxygen affinity beta chain hemoglobin disease + + Etiological subtype + + + Subtype of disorder + + + + 28066926[PMID] + + hemoglobin subunit beta + HBB + + CD113t-C + beta-globin + + + gene with protein product + + + + ClinVar + HBB + + + HGNC + 4827 + + + OMIM + 141900 + + + Reactome + P68871 + + + SwissProt + P68871 + + + Ensembl + ENSG00000244734 + + + Genatlas + HBB + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 715135 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715135 + Hemoglobin Lepore-beta-thalassemia intermedia + + Clinical subtype + + + Subtype of disorder + + + + 18932069[PMID] + + hemoglobin subunit beta + HBB + + CD113t-C + beta-globin + + + gene with protein product + + + + ClinVar + HBB + + + HGNC + 4827 + + + OMIM + 141900 + + + Reactome + P68871 + + + SwissProt + P68871 + + + Ensembl + ENSG00000244734 + + + Genatlas + HBB + + + + + 11p15.4 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 715140 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715140 + Hemoglobin Lepore-beta-thalassemia major + + Clinical subtype + + + Subtype of disorder + + + + 18932069[PMID] + + hemoglobin subunit beta + HBB + + CD113t-C + beta-globin + + + gene with protein product + + + + ClinVar + HBB + + + HGNC + 4827 + + + OMIM + 141900 + + + Reactome + P68871 + + + SwissProt + P68871 + + + Ensembl + ENSG00000244734 + + + Genatlas + HBB + + + + + 11p15.4 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 715143 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715143 + Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene + + Disease + + + Disorder + + + + 18249014[PMID]_25690803[PMID]_34434372[PMID] + + hemoglobin subunit beta + HBB + + CD113t-C + beta-globin + + + gene with protein product + + + + ClinVar + HBB + + + HGNC + 4827 + + + OMIM + 141900 + + + Reactome + P68871 + + + SwissProt + P68871 + + + Ensembl + ENSG00000244734 + + + Genatlas + HBB + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 18249014[PMID]_25690803[PMID]_34434372[PMID] + + hemoglobin subunit alpha 2 + HBA2 + + HBA-T2 + + + gene with protein product + + + + ClinVar + HBA2 + + + Ensembl + ENSG00000188536 + + + Genatlas + HBA2 + + + HGNC + 4824 + + + OMIM + 141850 + + + Reactome + P69905 + + + SwissProt + P69905 + + + + + 16p13.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 18249014[PMID]_25690803[PMID]_34434372[PMID] + + hemoglobin subunit alpha 1 + HBA1 + + HBA-T3 + + + gene with protein product + + + + ClinVar + HBA1 + + + Ensembl + ENSG00000206172 + + + Genatlas + HBA1 + + + HGNC + 4823 + + + OMIM + 141800 + + + Reactome + P69905 + + + SwissProt + P69905 + + + + + 16p13.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 715640 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715640 + Rothmund-Thomson syndrome type 3 + + Clinical subtype + + + Subtype of disorder + + + + 24389050[PMID] + + CXXC repeat containing interactor of PDZ3 domain + CRIPT + + HSPC139 + + + gene with protein product + + + + OMIM + 604594 + + + SwissProt + Q9P021 + + + Ensembl + ENSG00000119878 + + + HGNC + 14312 + + + + + 2p21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 715635 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715635 + Rothmund-Thomson syndrome type 4 + + Clinical subtype + + + Subtype of disorder + + + + 37055165[PMID] + + DNA replication helicase/nuclease 2 + DNA2 + + KIAA0083 + + + gene with protein product + + + + ClinVar + DNA2 + + + Genatlas + DNA2 + + + HGNC + 2939 + + + OMIM + 601810 + + + Reactome + P51530 + + + SwissProt + P51530 + + + Ensembl + ENSG00000138346 + + + + + 10q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 715623 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715623 + Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome + + Disease + + + Disorder + + + + 39106866[PMID] + + replication factor C subunit 4 + RFC4 + + activator 1 37 kDa subunit + RFC 37 kDa subunit + RFC37 + A1 + A1 37 kDa subunit + + + gene with protein product + + + + HGNC + 9972 + + + Ensembl + ENSG00000163918 + + + OMIM + 102577 + + + SwissProt + P35249 + + + + + 3q27.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 718017 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=718017 + Combined immunodeficiency due to COPG1 deficiency + + Disease + + + Disorder + + + + 33529166[PMID] + + coat protein complex I subunit gamma 1 + COPG1 + + + + gene with protein product + + + + HGNC + 2236 + + + + + 3q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 694963 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694963 + Inflammatory breast cancer + + Disease + + + Disorder + + + + 34445631[PMID] + + BRCA1 DNA repair associated + BRCA1 + + BRCA1/BRCA2-containing complex, subunit 1 + BRCC1 + FANCS + Fanconi anemia, complementation group S + PPP1R53 + RNF53 + protein phosphatase 1, regulatory subunit 53 + + + gene with protein product + + + + Ensembl + ENSG00000012048 + + + Genatlas + BRCA1 + + + HGNC + 1100 + + + OMIM + 113705 + + + Reactome + P38398 + + + SwissProt + P38398 + + + ClinVar + BRCA1 + + + + + 17q21.31 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 34445631[PMID] + + BRCA2 DNA repair associated + BRCA2 + + BRCA1/BRCA2-containing complex, subunit 2 + BRCC2 + FAD + FAD1 + XRCC11 + + + gene with protein product + + + + SwissProt + P51587 + + + Ensembl + ENSG00000139618 + + + Genatlas + BRCA2 + + + HGNC + 1101 + + + OMIM + 600185 + + + Reactome + P51587 + + + ClinVar + BRCA2 + + + + + 13q13.1 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 694946 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694946 + Alazami-Yuan syndrome + + Malformation syndrome + + + Disorder + + + + 25574841[PMID]_32030742[PMID]_35317131[PMID] + + TATA-box binding protein associated factor 6 + TAF6 + + TAFII85 + MGC:8964 + TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD + TAFII70 + TAFII80 + transcription initiation factor TFIID 70 kD subunit + + + gene with protein product + + + + SwissProt + P49848 + + + HGNC + 11540 + + + Ensembl + ENSG00000106290 + + + OMIM + 602955 + + + + + 7q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 694956 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694956 + Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome + + Malformation syndrome + + + Disorder + + + + 34515416[PMID] + + zinc finger and BTB domain containing 7A + ZBTB7A + + LRF + POK erythroid myeloid ontogenic factor + leukemia/lymphoma related factor + ZNF857A + lymphoma related factor + DKFZp547O146 + pokemon + zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein + FBI-1 + + + gene with protein product + + + + OMIM + 605878 + + + SwissProt + O95365 + + + Ensembl + ENSG00000178951 + + + HGNC + 18078 + + + + + 19p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 694356 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694356 + ADAR-related hereditary spastic paraplegia + + Disease + + + Disorder + + + + 25243380[PMID]_25604658[PMID] + + adenosine deaminase RNA specific + ADAR + + ADAR1 + DRADA + Double-stranded RNA-specific adenosine deaminase + + + gene with protein product + + + + Ensembl + ENSG00000160710 + + + Genatlas + ADAR + + + HGNC + 225 + + + OMIM + 146920 + + + Reactome + P55265 + + + SwissProt + P55265 + + + ClinVar + ADAR + + + + + 1q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 694937 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694937 + Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency + + Malformation syndrome + + + Disorder + + + + 38141063[PMID] + + nudix hydrolase 2 + NUDT2 + + bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) + diadenosine tetraphosphatase + diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase + Ap4A hydrolase 1 + Ap4Aase + + + gene with protein product + + + + HGNC + 8049 + + + Ensembl + ENSG00000164978 + + + OMIM + 602852 + + + SwissProt + P50583 + + + + + 9p13.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 694922 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694922 + Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome + + Disease + + + Disorder + + + + 30100084[PMID] + + ADP-ribosylserine hydrolase + ADPRS + + FLJ20446 + ADP-ribosylarginine hydrolase like 2 + ARH3 + + + gene with protein product + + + + HGNC + 21304 + + + Ensembl + ENSG00000116863 + + + OMIM + 610624 + + + SwissProt + Q9NX46 + + + + + 1p34.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 693912 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693912 + EPHB4-related capillary malformation-arteriovenous malformation + + Malformation syndrome + + + Disorder + + + + 30760892[PMID] + + EPH receptor B4 + EPHB4 + + Tyro11 + + + gene with protein product + + + + SwissProt + P54760 + + + ClinVar + EPHB4 + + + Ensembl + ENSG00000196411 + + + IUPHAR + 1833 + + + OMIM + 600011 + + + HGNC + 3395 + + + Genatlas + EPHB4 + + + + + 7q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 693907 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693907 + RASA1-related capillary malformation-arteriovenous malformation + + Malformation syndrome + + + Disorder + + + + 14639529[PMID]_21348050[PMID] + + RAS p21 protein activator 1 + RASA1 + + Ras GTPase-activating protein 1 + CM-AVM + GAP + capillary malformation-arteriovenous malformation + p120 + p120 RAS GTPase activating protein + p120GAP + p120RASGAP + + + gene with protein product + + + + ClinVar + RASA1 + + + Ensembl + ENSG00000145715 + + + Genatlas + RASA1 + + + HGNC + 9871 + + + OMIM + 139150 + + + Reactome + P20936 + + + SwissProt + P20936 + + + + + 5q14.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 694308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694308 + ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation + + Etiological subtype + + + Subtype of disorder + + + + 38397245[PMID] + + zinc finger MYND-type containing 11 + ZMYND11 + + BS69 + BRAM1 + + + gene with protein product + + + + ClinVar + ZMYND11 + + + Reactome + Q15326 + + + Ensembl + ENSG00000015171 + + + Genatlas + ZMYND11 + + + HGNC + 16966 + + + IUPHAR + 2782 + + + OMIM + 608668 + + + SwissProt + Q15326 + + + + + 10p15.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 696189 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696189 + Congenital generalized lipodystrophy type 1 + + Clinical subtype + + + Subtype of disorder + + + + 20301391[PMID] + + 1-acylglycerol-3-phosphate O-acyltransferase 2 + AGPAT2 + + LPAAT-beta + lysophosphatidic acid acyltransferase, beta + lysophosphatidic acid acyltransferase-beta + lysophospholipid acyltransferase 2 + LPLAT2 + 1-acyl-sn-glycerol-3-phosphate acyltransferase beta + + + gene with protein product + + + + Ensembl + ENSG00000169692 + + + Genatlas + AGPAT2 + + + HGNC + 325 + + + OMIM + 603100 + + + Reactome + O15120 + + + SwissProt + O15120 + + + ClinVar + AGPAT2 + + + + + 9q34.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 696206 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696206 + Congenital generalized lipodystrophy type 3 + + Clinical subtype + + + Subtype of disorder + + + + 18211975[PMID] + + caveolin 1 + CAV1 + + + + gene with protein product + + + + Ensembl + ENSG00000105974 + + + Genatlas + CAV1 + + + HGNC + 1527 + + + OMIM + 601047 + + + Reactome + Q03135 + + + SwissProt + Q03135 + + + ClinVar + CAV1 + + + + + 7q31.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 696242 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696242 + PPARG-associated congenital generalized lipodystrophy + + Clinical subtype + + + Subtype of disorder + + + + 24980513[PMID]_36806620[PMID] + + peroxisome proliferator activated receptor gamma + PPARG + + PPARG2 + PPARgamma + NR1C3 + PPARG1 + + + gene with protein product + + + + Ensembl + ENSG00000132170 + + + Genatlas + PPARG + + + ClinVar + PPARG + + + HGNC + 9236 + + + IUPHAR + 595 + + + OMIM + 601487 + + + Reactome + P37231 + + + SwissProt + P37231 + + + + + 3p25.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 696289 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696289 + Congenital generalized lipodystrophy type 2 + + Clinical subtype + + + Subtype of disorder + + + + 20301391[PMID] + + BSCL2 lipid droplet biogenesis associated, seipin + BSCL2 + + seipin + + + gene with protein product + + + + Ensembl + ENSG00000168000 + + + Genatlas + BSCL2 + + + HGNC + 15832 + + + OMIM + 606158 + + + SwissProt + Q96G97 + + + ClinVar + BSCL2 + + + + + 11q12.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 695783 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695783 + EDEM3-CDG + + Disease + + + Disorder + + + + 34143952[PMID] + + ER degradation enhancing alpha-mannosidase like protein 3 + EDEM3 + + + + gene with protein product + + + + OMIM + 610214 + + + SwissProt + Q9BZQ6 + + + Ensembl + ENSG00000116406 + + + HGNC + 16787 + + + + + 1q25.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 695807 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695807 + Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome + + Disease + + + Disorder + + + + 33782605[PMID] + + spleen associated tyrosine kinase + SYK + + + + gene with protein product + + + + IUPHAR + 2230 + + + Ensembl + ENSG00000165025 + + + OMIM + 600085 + + + SwissProt + P43405 + + + HGNC + 11491 + + + + + 9q22.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 696063 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696063 + PLIN4-related distal myopathy + + Disease + + + Disorder + + + + 35499779[PMID] + + perilipin 4 + PLIN4 + + S3-12 + + + gene with protein product + + + + OMIM + 613247 + + + SwissProt + Q96Q06 + + + Ensembl + ENSG00000167676 + + + HGNC + 29393 + + + + + 19p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 695147 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695147 + Sickle cell-beta plus-thalassemia + + Etiological subtype + + + Subtype of disorder + + + + 34567471[PMID] + + hemoglobin subunit beta + HBB + + CD113t-C + beta-globin + + + gene with protein product + + + + ClinVar + HBB + + + HGNC + 4827 + + + OMIM + 141900 + + + Reactome + P68871 + + + SwissProt + P68871 + + + Ensembl + ENSG00000244734 + + + Genatlas + HBB + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 695183 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695183 + Late-onset combined immunodeficiency due to ICOS deficiency + + Disease + + + Disorder + + + + 12577056[PMID] + + inducible T cell costimulator + ICOS + + AILIM + CD278 + activation-inducible lymphocyte immunomediatory molecule + + + gene with protein product + + + + ClinVar + ICOS + + + Ensembl + ENSG00000163600 + + + Genatlas + ICOS + + + HGNC + 5351 + + + OMIM + 604558 + + + Reactome + Q9Y6W8 + + + SwissProt + Q9Y6W8 + + + IUPHAR + 2939 + + + + + 2q33.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 695172 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695172 + Combined immunodeficiency due to dimerization defective IKAROS mutation + + Disease + + + Disorder + + + + 32845957[PMID] + + IKAROS family zinc finger 1 + IKZF1 + + Hs.54452 + IKAROS + LyF-1 + PPP1R92 + hIk-1 + protein phosphatase 1, regulatory subunit 92 + + + gene with protein product + + + + OMIM + 603023 + + + SwissProt + Q13422 + + + Ensembl + ENSG00000185811 + + + Genatlas + IKZF1 + + + HGNC + 13176 + + + Reactome + Q13422 + + + ClinVar + IKZF1 + + + + + 7p12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 695191 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695191 + Late-onset combined immunodeficiency due to ICOSL deficiency + + Disease + + + Disorder + + + + 30498080[PMID] + + inducible T cell costimulator ligand + ICOSLG + + B7 homolog 2 + B7 homologue 2 + KIAA0653 + B7H2 + B7RP-1 + GL50 + B7-related protein 1 + B7-H2 + B7RP1 + B7h + ICOS-L + CD275 + + + gene with protein product + + + + SwissProt + O75144 + + + Ensembl + ENSG00000160223 + + + OMIM + 605717 + + + HGNC + 17087 + + + + + 21q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 695110 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695110 + MAN2B2-CDG + + Disease + + + Disorder + + + + 35637269[PMID]_31775018[PMID] + + mannosidase alpha class 2B member 2 + MAN2B2 + + Epididymis-specific alpha-mannosidase + KIAA0935 + core-specific lysosomal alpha-1,6-Mannosidase + EpMAN + + + gene with protein product + + + + OMIM + 618899 + + + SwissProt + Q9Y2E5 + + + Ensembl + ENSG00000013288 + + + HGNC + 29623 + + + + + 4p16.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 695140 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695140 + Sickle cell-beta zero-thalassemia + + Etiological subtype + + + Subtype of disorder + + + + 21250876[PMID] + + hemoglobin subunit beta + HBB + + CD113t-C + beta-globin + + + gene with protein product + + + + ClinVar + HBB + + + HGNC + 4827 + + + OMIM + 141900 + + + Reactome + P68871 + + + SwissProt + P68871 + + + Ensembl + ENSG00000244734 + + + Genatlas + HBB + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 104077 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104077 + Myopathic intestinal pseudoobstruction + + Etiological subtype + + + Subtype of disorder + + + + 24591628[PMID] + + actin gamma 2, smooth muscle + ACTG2 + + ACTSG + + + gene with protein product + + + + Ensembl + ENSG00000163017 + + + Genatlas + ACTG2 + + + HGNC + 145 + + + OMIM + 102545 + + + Reactome + P63267 + + + SwissProt + P63267 + + + ClinVar + ACTG2 + + + + + 2p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 697067 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697067 + Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome + + Malformation syndrome + + + Disorder + + + + 34022130[PMID] + + BCAS3 microtubule associated cell migration factor + BCAS3 + + PHAF2 + Rudhira + phagophore assembly factor 2 + FLJ20128 + + + gene with protein product + + + + Ensembl + ENSG00000141376 + + + SwissProt + Q9H6U6 + + + OMIM + 607470 + + + HGNC + 14347 + + + + + 17q23.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 696942 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696942 + Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency + + Disease + + + Disorder + + + + 30521495[PMID] + + Rho guanine nucleotide exchange factor 1 + ARHGEF1 + + SUB1.5 + LBCL2 + P115-RHOGEF + + + gene with protein product + + + + Ensembl + ENSG00000076928 + + + HGNC + 681 + + + OMIM + 601855 + + + SwissProt + Q92888 + + + + + 19q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 696945 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696945 + X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency + + Disease + + + Disorder + + + + 29636373[PMID] + + SH3 domain containing kinase binding protein 1 + SH3KBP1 + + Cbl-interacting protein of 85 kDa + CIN85 + + + gene with protein product + + + + HGNC + 13867 + + + OMIM + 300374 + + + Ensembl + ENSG00000147010 + + + SwissProt + Q96B97 + + + + + Xp22.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 696931 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696931 + Common variable immunodeficiency phenotype due to TWEAK deficiency + + Disease + + + Disorder + + + + 23493554[PMID] + + TNF superfamily member 12 + TNFSF12 + + APO3L + DR3LG + TWEAK + TNF12 + + + gene with protein product + + + + ClinVar + TNFSF12 + + + Ensembl + ENSG00000239697 + + + Genatlas + TNFSF12 + + + HGNC + 11927 + + + OMIM + 602695 + + + Reactome + O43508 + + + SwissProt + O43508 + + + + + 17p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 696925 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696925 + Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency + + Disease + + + Disorder + + + + 19666484[PMID] + + TNF receptor superfamily member 13C + TNFRSF13C + + BAFFR + CD268 + + + gene with protein product + + + + IUPHAR + 1886 + + + Ensembl + ENSG00000159958 + + + Genatlas + TNFRSF13C + + + HGNC + 17755 + + + OMIM + 606269 + + + Reactome + Q96RJ3 + + + SwissProt + Q96RJ3 + + + ClinVar + TNFRSF13C + + + + + 22q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 696907 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696907 + Common variable immunodeficiency phenotype due to homozygous TACI deficiency + + Disease + + + Disorder + + + + 16007086[PMID] + + TNF receptor superfamily member 13B + TNFRSF13B + + CD267 + IGAD2 + TACI + + + gene with protein product + + + + IUPHAR + 1885 + + + ClinVar + TNFRSF13B + + + Reactome + O14836 + + + SwissProt + O14836 + + + Ensembl + ENSG00000240505 + + + Genatlas + TNFRSF13B + + + HGNC + 18153 + + + OMIM + 604907 + + + + + 17p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 103918 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103918 + Tropical pancreatitis + + Disease + + + Disorder + + + + 12360463[PMID]_12011155[PMID] + + serine peptidase inhibitor Kazal type 1 + SPINK1 + + PCTT + PSTI + Spink3 + TATI + + + gene with protein product + + + + Ensembl + ENSG00000164266 + + + Genatlas + SPINK1 + + + HGNC + 11244 + + + OMIM + 167790 + + + SwissProt + P00995 + + + ClinVar + SPINK1 + + + + + 5q32 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 22580415[PMID]_19404200[PMID] + + chymotrypsin C + CTRC + + CLCR + ELA4 + caldecrin + elastase 4 + chymotrypsinogen C + + + gene with protein product + + + + Ensembl + ENSG00000162438 + + + Genatlas + CTRC + + + HGNC + 2523 + + + IUPHAR + 2341 + + + OMIM + 601405 + + + Reactome + Q99895 + + + SwissProt + Q99895 + + + ClinVar + CTRC + + + + + 1p36.21 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 696904 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696904 + Common variable immunodeficiency phenotype due to IRF2BP2 deficiency + + Disease + + + Disorder + + + + 27016798[PMID] + + interferon regulatory factor 2 binding protein 2 + IRF2BP2 + + LRIR2 + IRF-2BP2 + + + gene with protein product + + + + HGNC + 21729 + + + Ensembl + ENSG00000168264 + + + SwissProt + Q7Z5L9 + + + Reactome + Q7Z5L9 + + + OMIM + 615332 + + + + + 1q42.3 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 696894 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696894 + Common variable immunodeficiency phenotype due to CD21 deficiency + + Disease + + + Disorder + + + + 38817346[PMID]_22035880[PMID] + + complement C3d receptor 2 + CR2 + + C3DR + CD21 + Epstein-Barr virus receptor + + + gene with protein product + + + + Ensembl + ENSG00000117322 + + + Genatlas + CR2 + + + HGNC + 2336 + + + OMIM + 120650 + + + SwissProt + P20023 + + + ClinVar + CR2 + + + Reactome + P20023 + + + + + 1q32.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 103908 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103908 + Congenital sodium diarrhea + + Disease + + + Disorder + + + + 25994218[PMID] + + guanylate cyclase 2C + GUCY2C + + HSER + Guanylyl cyclase C + GCC + GC-C + STA receptor + STAR + heat stable enterotoxin receptor + + + gene with protein product + + + + Ensembl + ENSG00000070019 + + + Genatlas + GUCY2C + + + HGNC + 4688 + + + IUPHAR + 1750 + + + OMIM + 601330 + + + SwissProt + P25092 + + + ClinVar + GUCY2C + + + Reactome + P25092 + + + + + 12p12.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26358773[PMID] + + solute carrier family 9 member A3 + SLC9A3 + + NHE-3 + Sodium/hydrogen exchanger 3 + + + gene with protein product + + + + Ensembl + ENSG00000066230 + + + Genatlas + SLC9A3 + + + HGNC + 11073 + + + IUPHAR + 950 + + + OMIM + 182307 + + + Reactome + P48764 + + + SwissProt + P48764 + + + ClinVar + SLC9A3 + + + + + 5p15.33 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 696881 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696881 + Common variable immunodeficiency phenotype due to CD19/CD81 deficiency + + Disease + + + Disorder + + + + 21330302[PMID] + + CD19 molecule + CD19 + + + + gene with protein product + + + + IUPHAR + 2764 + + + Ensembl + ENSG00000177455 + + + Genatlas + CD19 + + + HGNC + 1633 + + + OMIM + 107265 + + + Reactome + P15391 + + + SwissProt + P15391 + + + ClinVar + CD19 + + + + + 16p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21970952[PMID] + + CD81 molecule + CD81 + + S5.7 + TAPA-1 + TSPAN28 + Tetraspanin-28 + + + gene with protein product + + + + ClinVar + CD81 + + + Ensembl + ENSG00000110651 + + + Genatlas + CD81 + + + HGNC + 1701 + + + OMIM + 186845 + + + Reactome + P60033 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KIT proto-oncogene, receptor tyrosine kinase + KIT + + C-Kit + CD117 + SCFR + mast/stem cell growth factor receptor Kit + + + gene with protein product + + + + ClinVar + KIT + + + Ensembl + ENSG00000157404 + + + Genatlas + KIT + + + HGNC + 6342 + + + IUPHAR + 1805 + + + OMIM + 164920 + + + Reactome + P10721 + + + SwissProt + P10721 + + + + + 4q12 + 1 + + + + + Biomarker tested in + + + Assessed + + + + + + 697764 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697764 + Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation + + Etiological subtype + + + Subtype of disorder + + + + 36224108[PMID] + + CCR4-NOT transcription complex subunit 2 + CNOT2 + + CDC36 + NOT2H + CC chemokine receptor 4-negative regulator of transcription 2 + + + gene with protein product + + + + HGNC + 7878 + + + Ensembl + ENSG00000111596 + + + SwissProt + Q9NZN8 + + + Reactome + Q9NZN8 + + + OMIM + 604909 + + + + + 12q15 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 697414 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697414 + Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation + + Disease + + + Disorder + + + + 35087518[PMID]_36433803[PMID] + + IKAROS family zinc finger 1 + IKZF1 + + Hs.54452 + IKAROS + LyF-1 + PPP1R92 + hIk-1 + protein phosphatase 1, regulatory subunit 92 + + + gene with protein product + + + + OMIM + 603023 + + + SwissProt + Q13422 + + + Ensembl + ENSG00000185811 + + + Genatlas + IKZF1 + + + HGNC + 13176 + + + Reactome + Q13422 + + + ClinVar + IKZF1 + + + + + 7p12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 697734 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697734 + ST3GAL3-CDG + + Disease + + + Disorder + + + + 37067065[PMID] + + ST3 beta-galactoside alpha-2,3-sialyltransferase 3 + ST3GAL3 + + ST3Gal III + N-acetyllactosaminide alpha-2,3-sialyltransferase + + + gene with 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Assessed + + + + + + 697356 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697356 + Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome + + Malformation syndrome + + + Disorder + + + + 36197437[PMID] + + FOS like 2, AP-1 transcription factor subunit + FOSL2 + + FLJ23306 + FRA2 + + + gene with protein product + + + + HGNC + 3798 + + + OMIM + 601575 + + + Ensembl + ENSG00000075426 + + + SwissProt + P15408 + + + + + 2p23.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 697389 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697389 + Combined immunodeficiency due to HELIOS deficiency + + Disease + + + Disorder + + + + 34826260[PMID] + + IKAROS family zinc finger 2 + IKZF2 + + Helios + + + gene with protein product + + + + HGNC + 13177 + + + OMIM + 606234 + + + SwissProt + Q9UKS7 + + + Ensembl + ENSG00000030419 + + + + + 2q34 + 1 + + + + + Disease-causing germline mutation(s) in 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subunit gamma + NF-kappa-B essential modulator + IKKG + IKKAP1 + I-kappa-B kinase subunit gamma + 14.7K (adenovirus E3 protein) interacting protein 3 + + + gene with protein product + + + + ClinVar + IKBKG + + + Ensembl + ENSG00000269335 + + + Genatlas + IKBKG + + + HGNC + 5961 + + + OMIM + 300248 + + + Reactome + Q9Y6K9 + + + SwissProt + Q9Y6K9 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 699599 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699599 + ICHAD syndrome + + Disease + + + Disorder + + + + 37316189[PMID] + + IKAROS family zinc finger 2 + IKZF2 + + Helios + + + gene with protein product + + + + HGNC + 13177 + + + OMIM + 606234 + + + SwissProt + Q9UKS7 + + + Ensembl + ENSG00000030419 + + + + + 2q34 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 699618 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699618 + Severe mendelian susceptibility to mycobacterial 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698085 + Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome + + Malformation syndrome + + + Disorder + + + + 36044892[PMID] + + transmembrane protein 147 + TMEM147 + + NIFIE14 + MGC1936 + + + gene with protein product + + + + HGNC + 30414 + + + OMIM + 613585 + + + Ensembl + ENSG00000105677 + + + SwissProt + Q9BVK8 + + + + + 19q13.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 698090 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698090 + Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome + + Malformation syndrome + + + Disorder + + + + 39837771[PMID]_27939639[PMID]_27939640[PMID] + + bromodomain and PHD finger containing 1 + BRPF1 + + BR140 + bromodomain-containing protein, 140kD + peregrin + + + gene with protein product + + + + HGNC + 14255 + + + Ensembl + ENSG00000156983 + + + OMIM + 602410 + + + IUPHAR + 2730 + + + SwissProt + P55201 + + + + + 3p25.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 699822 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699822 + Sickle cell S-Lepore disease + + Clinical subtype + + + Subtype of disorder + + + + 34334973[PMID]_20022270[PMID] + + hemoglobin subunit beta + HBB + + CD113t-C + beta-globin + + + gene with protein product + + + + ClinVar + HBB + + + HGNC + 4827 + + + OMIM + 141900 + + + Reactome + P68871 + + + SwissProt + P68871 + + + Ensembl + ENSG00000244734 + + + Genatlas + HBB + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 34334973[PMID]_20022270[PMID] + + hemoglobin subunit delta + HBD + + HBK + + + gene with protein product + + + + Ensembl + ENSG00000223609 + + + Genatlas + HBD + + + HGNC + 4829 + + + OMIM + 142000 + + + Reactome + P02042 + + + SwissProt + P02042 + + + ClinVar + HBD + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 699850 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699850 + 2p25.3 microduplication syndrome + + Malformation syndrome + + + Disorder + + + + 37188826[PMID] + + myelin transcription factor 1 like + MYT1L + + NZF1 + ZC2H2C2 + KIAA1106 + neural zinc finger transcription factor 1 + ZC2HC4B + + + gene with protein product + + + + Genatlas + MYT1L + + + OMIM + 613084 + + + HGNC + 7623 + + + ClinVar + MYT1L + + + Ensembl + ENSG00000186487 + + + SwissProt + Q9UL68 + + + + + 2p25.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 37188826[PMID] + + peroxidasin + PXDN + + D2S448 + D2S448E + KIAA0230 + MG50 + PRG2 + PXN + + + gene with protein product + + + + ClinVar + PXDN + + + Ensembl + ENSG00000130508 + + + Genatlas + PXDN + + + HGNC + 14966 + + + OMIM + 605158 + + + SwissProt + Q92626 + + + Reactome + Q92626 + + + + + 2p25.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 700090 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700090 + Sickle cell S-O Arab disease + + Clinical subtype + + + Subtype of disorder + + + + 32595482[PMID] + + hemoglobin subunit beta + HBB + + CD113t-C + beta-globin + + + gene with protein product + + + + ClinVar + HBB + + + HGNC + 4827 + + + OMIM + 141900 + + + Reactome + P68871 + + + SwissProt + P68871 + + + Ensembl + ENSG00000244734 + + + Genatlas + HBB + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 700111 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700111 + Homozygous hemoglobin O Arab disease + + Disease + + + Disorder + + + + 23192960[PMID]_37554704[PMID] + + hemoglobin subunit beta + HBB + + CD113t-C + beta-globin + + + gene with protein product + + + + ClinVar + HBB + + + HGNC + 4827 + + + OMIM + 141900 + + + Reactome + P68871 + + + SwissProt + P68871 + + + Ensembl + ENSG00000244734 + + + Genatlas + HBB + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 700107 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700107 + Sickle cell S-other specified hemoglobin variant + + Clinical subtype + + + Subtype of disorder + + + + 23388674[PMID]_34113458[PMID] + + hemoglobin subunit beta + HBB + + CD113t-C + beta-globin + + + gene with protein product + + + + ClinVar + HBB + + + HGNC + 4827 + + + OMIM + 141900 + + + Reactome + P68871 + + + SwissProt + P68871 + + + Ensembl + ENSG00000244734 + + + Genatlas + HBB + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 700124 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700124 + Autosomal recessive hereditary chronic pancreatitis + + Disease + + + Disorder + + + + 17274009[PMID] + + serine peptidase inhibitor Kazal type 1 + SPINK1 + + PCTT + PSTI + Spink3 + TATI + + + gene with protein product + + + + Ensembl + ENSG00000164266 + + + Genatlas + SPINK1 + + + HGNC 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ENSG00000243335 + + + Genatlas + KCTD7 + + + HGNC + 21957 + + + OMIM + 611725 + + + SwissProt + Q96MP8 + + + + + 7q11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 699718 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699718 + Infantile CLN1 disease + + Clinical subtype + + + Subtype of disorder + + + + 32412666[PMID]_34733232[PMID]_7637805[PMID] + + palmitoyl-protein thioesterase 1 + PPT1 + + CLN1 + INCL + ceroid-lipofuscinosis, neuronal 1, infantile + + + gene with protein product + + + + ClinVar + PPT1 + + + IUPHAR + 3199 + + + Ensembl + ENSG00000131238 + + + Genatlas + PPT1 + + + HGNC + 9325 + + + OMIM + 600722 + + + Reactome + P50897 + + + SwissProt + P50897 + + + + + 1p34.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 699734 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699734 + Late infantile CLN1 disease + + Clinical subtype + + + Subtype of disorder + + + + 32412666[PMID]_34733232[PMID]_7637805[PMID] + + palmitoyl-protein thioesterase 1 + PPT1 + + CLN1 + INCL + ceroid-lipofuscinosis, neuronal 1, infantile + + + gene with protein product + + + + ClinVar + PPT1 + + + IUPHAR + 3199 + + + Ensembl + ENSG00000131238 + + + Genatlas + PPT1 + + + HGNC + 9325 + + + OMIM + 600722 + + + Reactome + P50897 + + + SwissProt + P50897 + + + + + 1p34.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 699739 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699739 + Juvenile CLN1 disease + + Clinical subtype + + + Subtype of disorder + + + + 32412666[PMID]_34733232[PMID]_7637805[PMID] + + palmitoyl-protein thioesterase 1 + PPT1 + + CLN1 + INCL + ceroid-lipofuscinosis, neuronal 1, infantile + + + gene with protein product + + + + ClinVar + PPT1 + + + IUPHAR + 3199 + + + Ensembl + ENSG00000131238 + + + Genatlas + PPT1 + + + HGNC + 9325 + + + OMIM + 600722 + + + Reactome + P50897 + + + SwissProt + P50897 + + + + + 1p34.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 699745 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699745 + Adult CLN1 disease + + Clinical subtype + + + Subtype of disorder + + + + 32412666[PMID]_34733232[PMID]_7637805[PMID] + + palmitoyl-protein thioesterase 1 + PPT1 + + CLN1 + INCL + ceroid-lipofuscinosis, neuronal 1, infantile + + + gene with protein product + + + + ClinVar + PPT1 + + + IUPHAR + 3199 + + + Ensembl + ENSG00000131238 + + + Genatlas + PPT1 + + + HGNC + 9325 + + + OMIM + 600722 + + + Reactome + P50897 + + + SwissProt + P50897 + + + + + 1p34.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 699751 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699751 + Infantile CLN2 disease + + Clinical subtype + + + Subtype of disorder + + + + 32412666[PMID]_34733232[PMID] + + tripeptidyl peptidase 1 + TPP1 + + TPP I + LPIC + lysosomal pepstatin-insensitive carboxypeptidase + TPP-1 + + + gene with protein product + + + + SwissProt + O14773 + + + Ensembl + ENSG00000166340 + + + Genatlas + TPP1 + + + HGNC + 2073 + + + OMIM + 607998 + + + Reactome + O14773 + + + ClinVar + TPP1 + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 699761 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699761 + Late infantile CLN2 disease + + Clinical subtype + + + Subtype of disorder + + + + 32412666[PMID]_34733232[PMID] + + tripeptidyl peptidase 1 + TPP1 + + TPP I + LPIC + lysosomal pepstatin-insensitive carboxypeptidase + TPP-1 + + + gene with protein product + + + + SwissProt + O14773 + + + Ensembl + ENSG00000166340 + + + Genatlas + TPP1 + + + HGNC + 2073 + + + OMIM + 607998 + + + Reactome + O14773 + + + ClinVar + TPP1 + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 699769 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699769 + Juvenile CLN2 disease + + Clinical subtype + + + Subtype of disorder + + + + 32412666[PMID]_34733232[PMID] + + tripeptidyl peptidase 1 + TPP1 + + TPP I + LPIC + lysosomal pepstatin-insensitive carboxypeptidase + TPP-1 + + + gene with protein product + + + + SwissProt + O14773 + + + Ensembl + ENSG00000166340 + + + Genatlas + TPP1 + + + HGNC + 2073 + + + OMIM + 607998 + + + Reactome + O14773 + + + ClinVar + TPP1 + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 699780 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699780 + Juvenile CLN3 disease + + Clinical subtype + + + Subtype of disorder + + + + 15965709[PMID] + + CLN3 lysosomal/endosomal transmembrane protein, battenin + CLN3 + + SLC29B1 + JNCL + juvenile neuronal ceroid lipofuscinosis + BTN1 + + + gene with protein product + + + + ClinVar + CLN3 + + + Ensembl + ENSG00000188603 + + + Genatlas + CLN3 + + + HGNC + 2074 + + + OMIM + 607042 + + + SwissProt + Q13286 + + + + + 16p12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 699796 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699796 + Protracted juvenile CLN3 disease + + Clinical subtype + + + Subtype of disorder + + + + 15965709[PMID] + + CLN3 lysosomal/endosomal transmembrane protein, battenin + CLN3 + + SLC29B1 + JNCL + juvenile neuronal ceroid lipofuscinosis + BTN1 + + + gene with protein product + + + + ClinVar + CLN3 + + + Ensembl + ENSG00000188603 + + + Genatlas + CLN3 + + + HGNC + 2074 + + + OMIM + 607042 + + + SwissProt + Q13286 + + + + + 16p12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 699802 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699802 + Late infantile CLN5 disease + + Clinical subtype + + + Subtype of disorder + + + + 2412666[PMID]_34733232[PMID]_34684815[PMID] + + CLN5 lysosomal BMP synthase + CLN5 + + lysosomal bis(monoacylglycero)phosphate synthase + + + gene with protein product + + + + ClinVar + CLN5 + + + Ensembl + ENSG00000102805 + + + Genatlas + CLN5 + + + HGNC + 2076 + + + OMIM + 608102 + + + SwissProt + O75503 + + + + + 13q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 699807 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699807 + Juvenile CLN5 disease + + Clinical subtype + + + Subtype of disorder + + + + 2412666[PMID]_34733232[PMID]_34684815[PMID] + + CLN5 lysosomal BMP synthase + CLN5 + + lysosomal bis(monoacylglycero)phosphate synthase + + + gene with protein product + + + + ClinVar + CLN5 + + + Ensembl + ENSG00000102805 + + + Genatlas + CLN5 + + + HGNC + 2076 + + + OMIM + 608102 + + + SwissProt + O75503 + + + + + 13q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 699812 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699812 + Adult CLN5 disease + + Clinical subtype + + + Subtype of disorder + + + + 2412666[PMID]_34733232[PMID]_34684815[PMID] + + CLN5 lysosomal BMP synthase + CLN5 + + lysosomal bis(monoacylglycero)phosphate synthase + + + gene with protein product + + + + ClinVar + CLN5 + + + Ensembl + ENSG00000102805 + + + Genatlas + CLN5 + + + HGNC + 2076 + + + OMIM + 608102 + + + SwissProt + O75503 + + + + + 13q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 700508 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700508 + Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy + + Disease + + + Disorder + + + + 32367058[PMID]_36943151[PMID] + + sorbitol dehydrogenase + SORD + + L-iditol 2-dehydrogenase + XDH + SDH + xylitol dehydrogenase + + + gene with protein product + + + + HGNC + 11184 + + + Ensembl + ENSG00000140263 + + + OMIM + 182500 + + + SwissProt + Q00796 + + + + + 15q21.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 700497 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700497 + Juvenile CLN10 disease + + Clinical subtype + + + Subtype of disorder + + + + 32412666[PMID]_34733232[PMID]_34684815[PMID] + + cathepsin D + CTSD + + CLN10 + ceroid-lipofuscinosis, neuronal 10 + + + gene with protein product + + + + ClinVar + CTSD + + + Ensembl + ENSG00000117984 + + + Genatlas + CTSD + + + HGNC + 2529 + + + IUPHAR + 2345 + + + OMIM + 116840 + + + Reactome + P07339 + + + SwissProt + P07339 + + + + + 11p15.5 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 700492 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700492 + Late infantile CLN10 disease + + Clinical subtype + + + Subtype of disorder + + + + 32412666[PMID]_34733232[PMID]_34684815[PMID] + + cathepsin D + CTSD + + CLN10 + ceroid-lipofuscinosis, neuronal 10 + + + gene with protein product + + + + ClinVar + CTSD + + + Ensembl + ENSG00000117984 + + + Genatlas + CTSD + + + HGNC + 2529 + + + IUPHAR + 2345 + + + OMIM + 116840 + + + Reactome + P07339 + + + SwissProt + P07339 + + + + + 11p15.5 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 700487 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700487 + Congenital CLN10 disease + + Clinical subtype + + + Subtype of disorder + + + + 32412666[PMID]_34733232[PMID]_34684815[PMID] + + cathepsin D + CTSD + + CLN10 + ceroid-lipofuscinosis, neuronal 10 + + + gene with protein product + + + + ClinVar + CTSD + + + Ensembl + ENSG00000117984 + + + Genatlas + CTSD + + + HGNC + 2529 + + + IUPHAR + 2345 + + + OMIM + 116840 + + + Reactome + P07339 + + + SwissProt + P07339 + + + + + 11p15.5 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 700484 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700484 + Late infantile CLN8 disease + + Clinical subtype + + + Subtype of disorder + + + + 32412666[PMID]_34733232[PMID]_34684815[PMID] + + CLN8 transmembrane ER and ERGIC protein + CLN8 + + FLJ39417 + TLCD6 + + + gene with protein product + + + + ClinVar + CLN8 + + + HGNC + 2079 + + + OMIM + 607837 + + + SwissProt + Q9UBY8 + + + Ensembl + ENSG00000182372 + + + Genatlas + CLN8 + + + + + 8p23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 700477 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700477 + Adult CLN6 disease + + Clinical subtype + + + Subtype of disorder + + + + 32412666[PMID]_34733232[PMID]_34684815[PMID] + + CLN6 transmembrane ER protein + CLN6 + + FLJ20561 + HsT18960 + nclf + + + gene with protein product + + + + Reactome + Q9NWW5 + + + ClinVar + CLN6 + + + Ensembl + ENSG00000128973 + + + Genatlas + CLN6 + + + HGNC + 2077 + + + OMIM + 606725 + + + SwissProt + Q9NWW5 + + + + + 15q23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 700472 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700472 + Juvenile CLN6 disease + + Clinical subtype + + + Subtype of disorder + + + + 32412666[PMID]_34733232[PMID]_34684815[PMID] + + CLN6 transmembrane ER protein + CLN6 + + FLJ20561 + HsT18960 + nclf + + + gene with protein product + + + + Reactome + Q9NWW5 + + + ClinVar + CLN6 + + + Ensembl + ENSG00000128973 + + + Genatlas + CLN6 + + + HGNC + 2077 + + + OMIM + 606725 + + + SwissProt + Q9NWW5 + + + + + 15q23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 700188 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700188 + Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy + + Disease + + + Disorder + + + + 30842289[PMID] + + ryanodine receptor 1 + RYR1 + + PPP1R137 + RYR + protein phosphatase 1, regulatory subunit 137 + + + gene with protein product + + + + ClinVar + RYR1 + + + Ensembl + ENSG00000196218 + + + Genatlas + RYR1 + + + HGNC + 10483 + + + IUPHAR + 747 + + + OMIM + 180901 + + + Reactome + P21817 + + + SwissProt + P21817 + + + + + 19q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 101351 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101351 + Familial isolated congenital asplenia + + Morphological anomaly + + + Disorder + + + + 22560297[PMID] + + NK2 homeobox 5 + NKX2-5 + + tinman paralog (Drosophila) + CSX1 + NKX2.5 + NKX4-1 + tinman (Drosophila) homolog + + + gene with protein product + + + + Reactome + P52952 + + + SwissProt + P52952 + + + Ensembl + ENSG00000183072 + + + Genatlas + NKX2-5 + + + HGNC + 2488 + + + OMIM + 600584 + + + ClinVar + NKX2-5 + + + + + 5q35.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23579497[PMID] + + ribosomal protein SA + RPSA + + uS2 + 37LRP + LRP + SA + p40 + + + gene with protein product + + + + OMIM + 150370 + + + Reactome + P08865 + + + SwissProt + P08865 + + + Ensembl + ENSG00000168028 + + + Genatlas + RPSA + + + HGNC + 6502 + + + ClinVar + RPSA + + + + + 3p22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 700170 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700170 + DNAJB4-related distal myopathy + + Disease + + + Disorder + + + + 39468638[PMID] + + DnaJ heat shock protein family (Hsp40) member B4 + DNAJB4 + + HLJ1 + + + gene with protein product + + + + Ensembl + ENSG00000162616 + + + HGNC + 14886 + + + OMIM + 611327 + + + SwissProt + Q9UDY4 + + + + + 1p31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 700163 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700163 + SMPX-related distal myopathy + + Disease + + + Disorder + + + + 33974137[PMID] + + small muscle protein X-linked + SMPX + + DFNX4 + Chisel + Csl + + + gene with protein product + + + + ClinVar + SMPX + + + Ensembl + ENSG00000091482 + + + Genatlas + SMPX + + + HGNC + 11122 + + + OMIM + 300226 + + + SwissProt + Q9UHP9 + + + + + Xp22.12 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 700154 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700154 + TARDBP-related predominantly upper-limb distal myopathy + + Disease + + + Disorder + + + + 38079474[PMID] + + TAR DNA binding protein + TARDBP + + ALS10 + TDP-43 + + + gene with protein product + + + + ClinVar + TARDBP + + + Ensembl + ENSG00000120948 + + + Genatlas + TARDBP + + + HGNC + 11571 + + + OMIM + 605078 + + + SwissProt + Q13148 + + + Reactome + Q13148 + + + + + 1p36.22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 700467 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700467 + Late infantile CLN6 disease + + Clinical subtype + + + Subtype of disorder + + + + 32412666[PMID]_34733232[PMID]_34684815[PMID] + + CLN6 transmembrane ER protein + CLN6 + + FLJ20561 + HsT18960 + nclf + + + gene with protein product + + + + Reactome + Q9NWW5 + + + ClinVar + CLN6 + + + Ensembl + ENSG00000128973 + + + Genatlas + CLN6 + + + HGNC + 2077 + + + OMIM + 606725 + + + SwissProt + Q9NWW5 + + + + + 15q23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 700333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700333 + Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency + + Clinical subtype + + + Subtype of disorder + + + + 26708751[PMID]_26708753[PMID]_26545877[PMID] + + unc-80 subunit of NALCN channel complex + UNC80 + + FLJ33496 + KIAA1843 + UNC-80 + + + gene with protein product + + + + HGNC + 26582 + + + OMIM + 612636 + + + Genatlas + UNC80 + + + SwissProt + Q8N2C7 + + + Reactome + Q8N2C7 + + + Ensembl + ENSG00000144406 + + + ClinVar + UNC80 + + + + + 2q34 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 700336 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700336 + Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency + + Clinical subtype + + + Subtype of disorder + + + + 23749988[PMID]_24075186[PMID] + + sodium leak channel, non-selective + NALCN + + CanIon + bA430M15.1 + + + gene with protein product + + + + ClinVar + NALCN + + + Ensembl + ENSG00000102452 + + + Genatlas + NALCN + + + HGNC + 19082 + + + OMIM + 611549 + + + Reactome + Q8IZF0 + + + SwissProt + Q8IZF0 + + + IUPHAR + 750 + + + + + 13q32.3-q33.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 700325 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700325 + NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome + + Malformation syndrome + + + Disorder + + + + 31587868[PMID] + + NFKB activating protein + NKAP + + NF kappaB activating protein + FLJ22626 + + + gene with protein product + + + + Ensembl + ENSG00000101882 + + + OMIM + 300766 + + + SwissProt + Q8N5F7 + + + HGNC + 29873 + + + + + Xq24 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 700205 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700205 + Combined immunodeficiency due to IKBKB gain-of-function mutation + + Disease + + + Disorder + + + + 30337470[PMID] + + inhibitor of nuclear factor kappa B kinase subunit beta + IKBKB + + IKK-beta + IKK2 + IKKB + NFKBIKB + + + gene with protein product + + + + ClinVar + IKBKB + + + Ensembl + ENSG00000104365 + + + Genatlas + IKBKB + + + HGNC + 5960 + + + IUPHAR + 2039 + + + OMIM + 603258 + + + Reactome + O14920 + + + SwissProt + O14920 + + + + + 8p11.21 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 708043 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708043 + Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples + + Malformation syndrome + + + Disorder + + + + 32022899[PMID]_35583550[PMID] + + lymphoid enhancer binding factor 1 + LEF1 + + TCF7L3 + TCF10 + TCF1ALPHA + + + gene with protein product + + + + Ensembl + ENSG00000138795 + + + OMIM + 153245 + + + SwissProt + Q9UJU2 + + + HGNC + 6551 + + + + + 4q25 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 708036 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708036 + Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth + + Malformation syndrome + + + Disorder + + + + 27049303[PMID]_28813618[PMID] + + kringle containing transmembrane protein 1 + KREMEN1 + + KRM1 + + + gene with protein product + + + + HGNC + 17550 + + + Ensembl + ENSG00000183762 + + + OMIM + 609898 + + + SwissProt + Q96MU8 + + + + + 22q12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 708019 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708019 + Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome + + Malformation syndrome + + + Disorder + + + + 27479907[PMID] + + protein kinase D1 + PRKD1 + + PKC-mu + PKCM + PKD + + + gene with protein product + + + + ClinVar + PRKD1 + + + Ensembl + ENSG00000184304 + + + Genatlas + PRKD1 + + + HGNC + 9407 + + + IUPHAR + 1489 + + + OMIM + 605435 + + + Reactome + Q15139 + + + SwissProt + Q15139 + + + + + 14q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 708014 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708014 + Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment + + Malformation syndrome + + + Disorder + + + + 39902929[PMID] + + interferon regulatory factor 6 + IRF6 + + OFC6 + VWS1 + + + gene with protein product + + + + ClinVar + IRF6 + + + Ensembl + ENSG00000117595 + + + Genatlas + IRF6 + + + HGNC + 6121 + + + OMIM + 607199 + + + Reactome + O14896 + + + SwissProt + O14896 + + + + + 1q32.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 708171 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708171 + Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy + + Malformation syndrome + + + Disorder + + + + 25411445[PMID]_38161429[PMID] + + WW domain containing oxidoreductase + WWOX + + WOX1 + short chain dehydrogenase/reductase family 41C, member 1 + FOR + SDR41C1 + + + gene with protein product + + + + Ensembl + ENSG00000186153 + + + Genatlas + WWOX + + + HGNC + 12799 + + + OMIM + 605131 + + + Reactome + Q9NZC7 + + + SwissProt + Q9NZC7 + + + ClinVar + WWOX + + + + + 16q23.1-q23.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 708166 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708166 + Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome + + Malformation syndrome + + + Disorder + + + + 40449487[PMID] + + TM2 domain containing 3 + TM2D3 + + FLJ22604 + almondex homolog + BLP2 + + + gene with protein product + + + + OMIM + 610014 + + + SwissProt + Q9BRN9 + + + HGNC + 24128 + + + Ensembl + ENSG00000184277 + + + + + 15q26.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 708178 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708178 + Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome + + Malformation syndrome + + + Disorder + + + + 27964749[PMID]_36444493[PMID]_37580113[PMID] + + zinc finger protein 148 + ZNF148 + + ZFP148 + BERF-1 + BFCOL1 + HT-BETA + ZBP-89 + pHZ-52 + + + gene with protein product + + + + OMIM + 601897 + + + Ensembl + ENSG00000163848 + + + SwissProt + Q9UQR1 + + + HGNC + 12933 + + + + + 3q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 708126 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708126 + DNAJB6-related distal myopathy + + Disease + + + Disorder + + + + 31955980[PMID]_35812750[PMID] + + DnaJ heat shock protein family (Hsp40) member B6 + DNAJB6 + + MRJ + + + gene with protein product + + + + Ensembl + ENSG00000105993 + + + Genatlas + DNAJB6 + + + HGNC + 14888 + + + OMIM + 611332 + + + Reactome + O75190 + + + SwissProt + O75190 + + + ClinVar + DNAJB6 + + + + + 7q36.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 708123 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708123 + Autosomal dominant distal nebulin myopathy + + Disease + + + Disorder + + + + 40091977[PMID]_30679003[PMID] + + nebulin + NEB + + NEB177D + nemaline myopathy type 2 + + + gene with protein product + + + + OMIM + 161650 + + + Reactome + P20929 + + + SwissProt + P20929 + + + Ensembl + ENSG00000183091 + + + Genatlas + NEB + + + HGNC + 7720 + + + ClinVar + NEB + + + + + 2q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 708133 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708133 + Autosomal dominant ACTN2-related distal myopathy + + Disease + + + Disorder + + + + 34386585[PMID]_30900782[PMID] + + actinin alpha 2 + ACTN2 + + + + gene with protein product + + + + ClinVar + ACTN2 + + + Ensembl + ENSG00000077522 + + + Genatlas + ACTN2 + + + HGNC + 164 + + + OMIM + 102573 + + + Reactome + P35609 + + + SwissProt + P35609 + + + + + 1q43 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 708129 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708129 + Autosomal recessive ACTN2-related distal myopathy + + Disease + + + Disorder + + + + 38311799[PMID] + + actinin alpha 2 + ACTN2 + + + + gene with protein product + + + + ClinVar + ACTN2 + + + Ensembl + ENSG00000077522 + + + Genatlas + ACTN2 + + + HGNC + 164 + + + OMIM + 102573 + + + Reactome + P35609 + + + SwissProt + P35609 + + + + + 1q43 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 707792 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=707792 + Unstable gamma globin chain variant disease + + Disease + + + Disorder + + + + 24483321[PMID]_31985299[PMID] + + hemoglobin subunit gamma 2 + HBG2 + + HBG-T1 + fetal hemoglobin F subunit gamma 2 + + + gene with protein product + + + + Ensembl + ENSG00000196565 + + + Genatlas + HBG2 + + + HGNC + 4832 + + + OMIM + 142250 + + + Reactome + P69892 + + + SwissProt + P69892 + + + ClinVar + HBG2 + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 707937 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=707937 + Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome + + Malformation syndrome + + + Disorder + + + + 27843126[PMID]_33995476[PMID]_30800044[PMID] + + piezo type mechanosensitive ion channel component 2 + PIEZO2 + + FLJ23144 + FLJ23403 + FLJ34907 + HsT748 + HsT771 + + + gene with protein product + + + + ClinVar + PIEZO2 + + + IUPHAR + 2946 + + + Ensembl + ENSG00000154864 + + + Genatlas + PIEZO2 + + + HGNC + 26270 + + + OMIM + 613629 + + + SwissProt + Q9H5I5 + + + + + 18p11.22-p11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 707983 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=707983 + Early-onset autosomal recessive TTN-related distal myopathy + + Disease + + + Disorder + + + + 27796757[PMID] + + titin + TTN + + CMH9 + CMPD4 + FLJ32040 + LGMD2J + MYLK5 + TMD + + + gene with protein product + + + + Reactome + Q8WZ42 + + + SwissProt + Q8WZ42 + + + ClinVar + TTN + + + Ensembl + ENSG00000155657 + + + Genatlas + TTN + + + HGNC + 12403 + + + IUPHAR + 2265 + + + OMIM + 188840 + + + + + 2q31.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 707789 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=707789 + Unstable alpha globin chain variant disease + + Disease + + + Disorder + + + + 25212678[PMID] + + hemoglobin subunit alpha 2 + HBA2 + + HBA-T2 + + + gene with protein product + + + + ClinVar + HBA2 + + + Ensembl + ENSG00000188536 + + + Genatlas + HBA2 + + + HGNC + 4824 + + + OMIM + 141850 + + + Reactome + P69905 + + + SwissProt + P69905 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 28696843[PMID] + + hemoglobin subunit alpha 1 + HBA1 + + HBA-T3 + + + gene with protein product + + + + ClinVar + HBA1 + + + Ensembl + ENSG00000206172 + + + Genatlas + HBA1 + + + HGNC + 4823 + + + OMIM + 141800 + + + Reactome + P69905 + + + SwissProt + P69905 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 664511 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664511 + Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency + + Clinical subtype + + + Subtype of disorder + + + + 36445457[PMID] + + adaptor related protein complex 3 subunit delta 1 + AP3D1 + + ADTD + + + gene with protein product + + + + Genatlas + AP3D1 + + + ClinVar + AP3D1 + + + Ensembl + ENSG00000065000 + + + OMIM + 607246 + + + SwissProt + O14617 + + + HGNC + 568 + + + + + 19p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 101150 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101150 + Autosomal recessive dopa-responsive dystonia + + Disease + + + Disorder + + + + + + tyrosine hydroxylase + TH + + DYT5b + tyrosine 3-monooxygenase + + + gene with protein product + + + + ClinVar + TH + + + OMIM + 191290 + + + Reactome + P07101 + + + SwissProt + P07101 + + + Ensembl + ENSG00000180176 + + + Genatlas + TH + + + HGNC + 11782 + + + IUPHAR + 1243 + + + + + 11p15.5 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 33539324[PMID] + + TSPO associated protein 1 + TSPOAP1 + + KIAA0612 + RIM-BP1 + PRAX-1 + RIMBP1 + + + gene with protein product + + + + SwissProt + O95153 + + + HGNC + 16831 + + + OMIM + 610764 + + + Ensembl + ENSG00000005379 + + + + + 17q22 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 664500 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664500 + Hermansky-Pudlak syndrome due to AP3B1 deficiency + + Clinical subtype + + + Subtype of disorder + + + + 10024875[PMID] + + adaptor related protein complex 3 subunit beta 1 + AP3B1 + + ADTB3A + HPS2 + beta-3A + + + gene with protein product + + + + ClinVar + AP3B1 + + + Ensembl + ENSG00000132842 + + + Genatlas + AP3B1 + + + HGNC + 566 + + + OMIM + 603401 + + + Reactome + O00203 + + + SwissProt + O00203 + + + + + 5q14.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 101111 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101111 + Spinocerebellar ataxia type 25 + + Disease + + + Disorder + + + + + + spinocerebellar ataxia 25 + SCA25 + + + + Disorder-associated locus + + + + HGNC + 20684 + + + + + 2p21-p15 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 35411967[PMID] + + polyribonucleotide nucleotidyltransferase 1 + PNPT1 + + 3'-5' RNA exonuclease + OLD35 + PNPase + Polynucleotide phosphorylase + old-35 + polynucleotide phosphorylase + + + gene with protein product + + + + ClinVar + PNPT1 + + + Ensembl + ENSG00000138035 + + + Genatlas + PNPT1 + + + HGNC + 23166 + + + OMIM + 610316 + + + SwissProt + Q8TCS8 + + + + + 2p16.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 101112 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101112 + Spinocerebellar ataxia type 26 + + Disease + + + Disorder + + + + 23001565[PMID]_20301317[PMID] + + eukaryotic translation elongation factor 2 + EEF2 + + EEF-2 + Polypeptidyl-tRNA translocase + polypeptidyl-tRNA translocase + + + gene with protein product + + + + Ensembl + ENSG00000167658 + + + Genatlas + EEF2 + + + HGNC + 3214 + + + IUPHAR + 2756 + + + OMIM + 130610 + + + Reactome + P13639 + + + SwissProt + P13639 + + + ClinVar + EEF2 + + + + + 19p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 101109 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101109 + Spinocerebellar ataxia type 28 + + Disease + + + Disorder + + + + + + AFG3 like matrix AAA peptidase subunit 2 + AFG3L2 + + SPAX5 + + + gene with protein product + + + + Reactome + Q9Y4W6 + + + Ensembl + ENSG00000141385 + + + Genatlas + AFG3L2 + + + HGNC + 315 + + + OMIM + 604581 + + + SwissProt + Q9Y4W6 + + + ClinVar + AFG3L2 + + + + + 18p11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 664438 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664438 + Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome + + Malformation syndrome + + + Disorder + + + + 311521168[PMID] + + potassium calcium-activated channel subfamily M alpha 1 + KCNMA1 + + BK channel alpha subunit + KCa1.1 + big potassium channel alpha subunit + mSLO1 + maxiK channel + + + gene with protein product + + + + Ensembl + ENSG00000156113 + + + Genatlas + KCNMA1 + + + HGNC + 6284 + + + IUPHAR + 380 + + + OMIM + 600150 + + + Reactome + Q12791 + + + SwissProt + Q12791 + + + ClinVar + KCNMA1 + + + + + 10q22.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 101110 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101110 + Spinocerebellar ataxia type 20 + + Disease + + + Disorder + + + + + + spinocerebellar ataxia 20 + SCA20 + + + + Disorder-associated locus + + + + HGNC + 17204 + + + + + 11q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 101108 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101108 + Spinocerebellar ataxia type 23 + + Disease + + + Disorder + + + + + + prodynorphin + PDYN + + ADCA + PENKB + beta-neoendorphin + dynorphin + leu-enkephalin + leumorphin + neoendorphin-dynorphin-enkephalin prepropeptide + preproenkephalin B + rimorphin + + + gene with protein product + + + + Genatlas + PDYN + + + HGNC + 8820 + + + OMIM + 131340 + + + Reactome + P01213 + + + SwissProt + P01213 + + + Ensembl + ENSG00000101327 + + + ClinVar + PDYN + + + + + 20p13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 664430 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664430 + Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome + + Malformation syndrome + + + Disorder + + + + 37459438[PMID] + + solute carrier family 4 member 10 + SLC4A10 + + NCBE + NBCn2 + + + gene with protein product + + + + OMIM + 605556 + + + SwissProt + Q6U841 + + + IUPHAR + 911 + + + Ensembl + ENSG00000144290 + + + Reactome + Q6U841 + + + Genatlas + SLC4A10 + + + HGNC + 13811 + + + ClinVar + SLC4A10 + + + + + 2q24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 664416 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664416 + Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation + + Etiological subtype + + + Subtype of disorder + + + + 23389741[PMID] + + myocyte enhancer factor 2C + MEF2C + + + + gene with protein product + + + + Reactome + Q06413 + + + SwissProt + Q06413 + + + Ensembl + ENSG00000081189 + + + Genatlas + MEF2C + + + HGNC + 6996 + + + OMIM + 600662 + + + ClinVar + MEF2C + + + + + 5q14.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 665058 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=665058 + Common arterial trunk with pulmonary dominance and interrupted aortic arch + + Clinical subtype + + + Subtype of disorder + + + + 14585638[PMID]_29509905[PMID] + + T-box transcription factor 1 + TBX1 + + CATCH22 + + + gene with protein product + + + + Ensembl + ENSG00000184058 + + + Genatlas + TBX1 + + + HGNC + 11592 + + + OMIM + 602054 + + + SwissProt + O43435 + + + ClinVar + TBX1 + + + + + 22q11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 19666519[PMID]_38351237[PMID] + + GATA binding protein 6 + GATA6 + + + + gene with protein product + + + + Ensembl + ENSG00000141448 + + + Genatlas + GATA6 + + + HGNC + 4174 + + + OMIM + 601656 + + + Reactome + Q92908 + + + SwissProt + Q92908 + + + ClinVar + GATA6 + + + + + 18q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 665044 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=665044 + Common arterial trunk with aortic dominance + + Clinical subtype + + + Subtype of disorder + + + + 14585638[PMID]_29509905[PMID] + + T-box transcription factor 1 + TBX1 + + CATCH22 + + + gene with protein product + + + + Ensembl + ENSG00000184058 + + + Genatlas + TBX1 + + + HGNC + 11592 + + + OMIM + 602054 + + + SwissProt + O43435 + + + ClinVar + TBX1 + + + + + 22q11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 19666519[PMID]_38351237[PMID] + + GATA binding protein 6 + GATA6 + + + + gene with protein product + + + + Ensembl + ENSG00000141448 + + + Genatlas + GATA6 + + + HGNC + 4174 + + + OMIM + 601656 + + + Reactome + Q92908 + + + SwissProt + Q92908 + + + ClinVar + GATA6 + + + + + 18q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 664729 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664729 + EBV-induced lymphoproliferative disease due to TET2 deficiency + + Disease + + + Disorder + + + + 32518946[PMID] + + tet methylcytosine dioxygenase 2 + TET2 + + FLJ20032 + ten-eleven translocation 2 + + + gene with protein product + + + + ClinVar + TET2 + + + Ensembl + ENSG00000168769 + + + Genatlas + TET2 + + + HGNC + 25941 + + + OMIM + 612839 + + + Reactome + Q6N021 + + + SwissProt + Q6N021 + + + + + 4q24 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 664726 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664726 + EBV-induced lymphoproliferative disease due to CD137 deficiency + + Disease + + + Disorder + + + + 30872117[PMID] + + TNF receptor superfamily member 9 + TNFRSF9 + + CD137 + 4-1BB + + + gene with protein product + + + + ClinVar + TNFRSF9 + + + IUPHAR + 1878 + + + SwissProt + Q07011 + + + OMIM + 602250 + + + Reactome + Q07011 + + + Genatlas + TNFRSF9 + + + Ensembl + ENSG00000049249 + + + HGNC + 11924 + + + + + 1p36.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 664711 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664711 + EBV-induced lymphoproliferative disease due to PRKCD deficiency + + Disease + + + Disorder + + + + 23430113[PMID] + + protein kinase C delta + PRKCD + + + + gene with protein product + + + + ClinVar + PRKCD + + + IUPHAR + 1485 + + + OMIM + 176977 + + + Reactome + Q05655 + + + SwissProt + Q05655 + + + Ensembl + ENSG00000163932 + + + Genatlas + PRKCD + + + HGNC + 9399 + + + + + 3p21.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 664699 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664699 + EBV-induced lymphoproliferative disease due to RASGRP1 deficiency + + Disease + + + Disorder + + + + 28822832[PMID]_29282224[PMID] + + RAS guanyl releasing protein 1 + RASGRP1 + + calcium- and diacylglycerol-regulated guanine nucleotide exchange factor II + CalDAG-GEFII + RASGRP + + + gene with protein product + + + + IUPHAR + 3016 + + + Ensembl + ENSG00000172575 + + + SwissProt + O95267 + + + OMIM + 603962 + + + Genatlas + RASGRP1 + + + Reactome + O95267 + + + HGNC + 9878 + + + ClinVar + RASGRP1 + + + + + 15q14 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 101085 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101085 + Charcot-Marie-Tooth disease type 1F + + Disease + + + Disorder + + + + 20301384[PMID] + + neurofilament light chain + NEFL + + CMT1F + CMT2E + NF68 + NFL + PPP1R110 + protein phosphatase 1, regulatory subunit 110 + + + gene with protein product + + + + Ensembl + ENSG00000277586 + + + Genatlas + NEFL + + + HGNC + 7739 + + + OMIM + 162280 + + + Reactome + P07196 + + + SwissProt + P07196 + + + ClinVar + NEFL + + + + + 8p21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 101088 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101088 + X-linked hyper-IgM syndrome + + Clinical subtype + + + Subtype of disorder + + + + + + CD40 ligand + CD40LG + + CD40-L + CD154 + CD40 antigen ligand + CD40L + T-B cell-activating molecule + TNF-related activation protein + TRAP + gp39 + hCD40L + hyper-IgM syndrome + tumor necrosis factor (ligand) superfamily member 5 + T-BAM + + + gene with protein product + + + + Ensembl + ENSG00000102245 + + + Genatlas + CD40LG + + + HGNC + 11935 + + + OMIM + 300386 + + + Reactome + P29965 + + + SwissProt + P29965 + + + ClinVar + CD40LG + + + + + Xq26.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 101081 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101081 + Charcot-Marie-Tooth disease type 1A + + Disease + + + Disorder + + + + 20301384[PMID] + + peripheral myelin protein 22 + PMP22 + + GAS3 + HNPP + Sp110 + HMSNIA + + + gene with protein product + + + + Reactome + Q01453 + + + ClinVar + PMP22 + + + Ensembl + ENSG00000109099 + + + Genatlas + PMP22 + + + HGNC + 9118 + + + OMIM + 601097 + + + SwissProt + Q01453 + + + + + 17p12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 101082 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101082 + Charcot-Marie-Tooth disease type 1B + + Disease + + + Disorder + + + + 20301384[PMID] + + myelin protein zero + MPZ + + CMT2I + CMT2J + HMSNIB + P0 + + + gene with protein product + + + + ClinVar + MPZ + + + Ensembl + ENSG00000158887 + + + Genatlas + MPZ + + + HGNC + 7225 + + + OMIM + 159440 + + + SwissProt + P25189 + + + + + 1q23.3 + 1 + + + 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family transcriptional repressor + SPEN + + KIAA0929 + MINT + SHARP + RBM15C + + + gene with protein product + + + + SwissProt + Q96T58 + + + OMIM + 613484 + + + Ensembl + ENSG00000065526 + + + HGNC + 17575 + + + ClinVar + SPEN + + + Genatlas + SPEN + + + + + 1p36.21-p36.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 662367 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662367 + NESCAV syndrome + + Disease + + + Disorder + + + + 34121983[PMID] + + kinesin family member 1A + KIF1A + + UNC104 + + + gene with protein product + + + + Reactome + Q12756 + + + Ensembl + ENSG00000130294 + + + Genatlas + KIF1A + + + HGNC + 888 + + + OMIM + 601255 + + + SwissProt + Q12756 + + + ClinVar + KIF1A + + + + + 2q37.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 662216 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662216 + Mucopolysaccharidosis type 10 + + Disease + + + Disorder + + + + 34916232[PMID] + + arylsulfatase family member K + ARSK + + DKFZp313G1735 + TSULF + + + gene with protein product + + + + OMIM + 610011 + + + SwissProt + Q6UWY0 + + + HGNC + 25239 + + + Ensembl + ENSG00000164291 + + + + + 5q15 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 662207 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662207 + Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome + + Malformation syndrome + + + Disorder + + + + 29938792[PMID]_32335897[PMID] + + heterogeneous nuclear ribonucleoprotein H1 + HNRNPH1 + + Heterogeneous nuclear ribonucleoprotein H + hnRNPH + + + gene with protein product + + + + Ensembl + ENSG00000169045 + + + Genatlas + HNRNPH1 + + + HGNC + 5041 + + + OMIM + 601035 + + + Reactome + P31943 + + + SwissProt + P31943 + + + ClinVar + HNRNPH1 + + + + + 5q35.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 101075 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101075 + X-linked Charcot-Marie-Tooth disease type 1 + + Disease + + + Disorder + + + + 20301548[PMID] + + gap junction protein beta 1 + GJB1 + + CX32 + Charcot-Marie-Tooth neuropathy, X-linked + connexin 32 + + + gene with protein product + + + + IUPHAR + 723 + + + ClinVar + GJB1 + + + Ensembl + ENSG00000169562 + + + Genatlas + GJB1 + + + HGNC + 4283 + + + OMIM + 304040 + + + Reactome + P08034 + + + SwissProt + P08034 + + + + + Xq13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 101102 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101102 + Charcot-Marie-Tooth disease type 2H + + Disease + + + Disorder + + + + 20301462[PMID] + + ganglioside induced differentiation associated protein 1 + GDAP1 + + CMT2K + CMT4 + + + gene with protein product + + + + ClinVar + GDAP1 + + + Ensembl + ENSG00000104381 + + + Genatlas + GDAP1 + + + HGNC + 15968 + + + OMIM + 606598 + + + SwissProt + Q8TB36 + + + + + 8q21.11 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 664401 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664401 + Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation + + Etiological subtype + + + Subtype of disorder + + + + 31959127[PMID] + + TGF-beta activated kinase 1 (MAP3K7) binding protein 2 + TAB2 + + KIAA0733 + TAK1 binding protein 2 + + + gene with protein product + + + + Ensembl + ENSG00000055208 + + + OMIM + 605101 + + + SwissProt + Q9NYJ8 + + + Reactome + Q9NYJ8 + + + Genatlas + TAB2 + + + HGNC + 17075 + + + ClinVar + TAB2 + + + + + 6q25.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 101101 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101101 + Charcot-Marie-Tooth disease type 2B2 + + Disease + + + Disorder + + + + 30039206[PMID] + + polynucleotide kinase 3'-phosphatase + PNKP + + PNK + bifunctional polynucleotide phosphatase/kinase + + + gene with protein product + + + + Ensembl + ENSG00000039650 + + + Genatlas + PNKP + + + HGNC + 9154 + + + OMIM + 605610 + + + Reactome + Q96T60 + + + SwissProt + Q96T60 + + + ClinVar + PNKP + + + + + 19q13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 664404 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664404 + 6q25.1 microdeletion syndrome + + Etiological subtype + + + Subtype of disorder + + + + 20493459[PMID] + + TGF-beta activated kinase 1 (MAP3K7) binding protein 2 + TAB2 + + KIAA0733 + TAK1 binding protein 2 + + + gene with protein product + + + + Ensembl + ENSG00000055208 + + + OMIM + 605101 + + + SwissProt + Q9NYJ8 + + + Reactome + Q9NYJ8 + + + Genatlas + TAB2 + + + HGNC + 17075 + + + ClinVar + TAB2 + + + + + 6q25.1 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 101097 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101097 + Autosomal recessive Charcot-Marie-Tooth disease with hoarseness + + Disease + + + Disorder + + + + 20301462[PMID] + + ganglioside induced differentiation associated protein 1 + GDAP1 + + CMT2K + CMT4 + + + gene with protein product + + + + ClinVar + GDAP1 + + + Ensembl + ENSG00000104381 + + + Genatlas + GDAP1 + + + HGNC + 15968 + + + OMIM + 606598 + + + SwissProt + Q8TB36 + + + + + 8q21.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 662762 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662762 + Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome + + Malformation syndrome + + + Disorder + + + + 35047857[PMID] + + actin related protein 2/3 complex subunit 4 + ARPC4 + + ARC20 + p20-Arc + Arp2/3 protein complex subunit p20 + actin related protein 2/3 complex, subunit 4 (20 kD) + + + gene with protein product + + + + OMIM + 604226 + + + HGNC + 707 + + + Ensembl + ENSG00000241553 + + + SwissProt + P59998 + + + + + 3p25.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 101090 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101090 + Hyper-IgM syndrome type 3 + + Clinical subtype + + + Subtype of disorder + + + + 11675497[PMID] + + CD40 molecule + CD40 + + Bp50 + p50 + + + gene with protein product + + + + IUPHAR + 1874 + + + HGNC + 11919 + + + OMIM + 109535 + + + Reactome + P25942 + + + SwissProt + P25942 + + + Ensembl + ENSG00000101017 + + + Genatlas + CD40 + + + ClinVar + CD40 + + + + + 20q13.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 101089 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101089 + Hyper-IgM syndrome type 2 + + Clinical subtype + + + Subtype of disorder + + + + 11007475[PMID] + + activation induced cytidine deaminase + AICDA + + AID + ARP2 + CDA2 + HIGM2 + + + gene with protein product + + + + Reactome + Q9GZX7 + + + Ensembl + ENSG00000111732 + + + Genatlas + AICDA + + + HGNC + 13203 + + + OMIM + 605257 + + + SwissProt + Q9GZX7 + + + ClinVar + AICDA + + + + + 12p13.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 662829 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662829 + Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome + + Disease + + + Disorder + + + + 29985992[PMID] + + BCL11 transcription factor B + BCL11B + + CTIP2 + hRIT1-alpha + CTIP-2 + SMARCM2 + + + gene with protein product + + + + Ensembl + ENSG00000127152 + + + Genatlas + BCL11B + + + ClinVar + BCL11B + + + SwissProt + Q9C0K0 + + + OMIM + 606558 + + + HGNC + 13222 + + + + + 14q32.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 101092 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101092 + Hyper-IgM syndrome type 5 + + Clinical subtype + + + Subtype of disorder + + + + 12958596[PMID]_15967827[PMID] + + uracil DNA glycosylase + UNG + + HIGM4 + UDG + UNG1 + UNG2 + uracil-DNA glycosylase 1, uracil-DNA glycosylase 2 + + + gene with protein product + + + + ClinVar + UNG + + + Ensembl + ENSG00000076248 + + + Genatlas + UNG + + + HGNC + 12572 + + + OMIM + 191525 + + + SwissProt + P13051 + + + Reactome + P13051 + + + + + 12q24.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 675359 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675359 + Anastomosing haemangioma + + Disease + + + Disorder + + + + 28084343[PMID] + + G protein subunit alpha q + GNAQ + + G-ALPHA-q + GAQ + + + gene with protein product + + + + IUPHAR + 2914 + + + Ensembl + ENSG00000156052 + + + Genatlas + GNAQ + + + HGNC + 4390 + + + OMIM + 600998 + + + Reactome + P50148 + + + SwissProt + P50148 + + + ClinVar + GNAQ + + + + + 9q21.2 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 29574926[PMID] + + G protein subunit alpha 14 + GNA14 + + + + gene with protein product + + + + HGNC + 4382 + + + OMIM + 604397 + + + Genatlas + GNA14 + + + SwissProt + O95837 + + + Reactome + O95837 + + + Ensembl + ENSG00000156049 + + + ClinVar + GNA14 + + + + + 9q21.2 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 31189994[PMID] + + G protein subunit alpha 11 + GNA11 + + FBH + FBH2 + FHH2 + + + gene with protein product + + + + Reactome + P29992 + + + SwissProt + P29992 + + + Ensembl + ENSG00000088256 + + + Genatlas + GNA11 + + + HGNC + 4379 + + + OMIM + 139313 + + + ClinVar + GNA11 + + + + + 19p13.3 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 675216 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675216 + Spinocerebellar ataxia type 27B + + Disease + + + Disorder + + + + 36516086[PMID] + + fibroblast growth factor 14 + FGF14 + + FHF4 + SCA27 + + + gene with protein product + + + + Ensembl + ENSG00000102466 + + + Genatlas + FGF14 + + + HGNC + 3671 + + + OMIM + 601515 + + + Reactome + Q92915 + + + SwissProt + Q92915 + + + ClinVar + FGF14 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Ensembl + ENSG00000042753 + + + Genatlas + AP2S1 + + + HGNC + 565 + + + OMIM + 602242 + + + Reactome + P53680 + + + SwissProt + P53680 + + + ClinVar + AP2S1 + + + + + 19q13.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 101041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101041 + Familial hypofibrinogenemia + + Clinical subtype + + + Subtype of disorder + + + + 18676163[PMID]_17295221[PMID] + + fibrinogen alpha chain + FGA + + + + gene with protein product + + + + ClinVar + FGA + + + Ensembl + ENSG00000171560 + + + Genatlas + FGA + + + HGNC + 3661 + + + OMIM + 134820 + + + Reactome + P02671 + + + SwissProt + P02671 + + + + + 4q31.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 17295221[PMID] + + fibrinogen beta chain + FGB + + + + gene with protein product + + + + ClinVar + FGB + + + Ensembl + ENSG00000171564 + + + Genatlas + FGB + + + HGNC + 3662 + + + OMIM + 134830 + + + Reactome + P02675 + + + SwissProt + P02675 + + + + + 4q31.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 18676163[PMID]_17295221[PMID] + + fibrinogen gamma chain + FGG + + + + gene with protein product + + + + Ensembl + ENSG00000171557 + + + Genatlas + FGG + + + HGNC + 3694 + + + OMIM + 134850 + + + Reactome + P02679 + + + SwissProt + P02679 + + + ClinVar + FGG + + + + + 4q32.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 101046 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101046 + Epilepsy with auditory features + + Disease + + + Disorder + + + + 26046367[PMID] + + reelin + RELN + + PRO1598 + RL + + + gene with protein product + + + + ClinVar + RELN + + + Ensembl + ENSG00000189056 + + + Genatlas + RELN + + + HGNC + 9957 + + + OMIM + 600514 + + + SwissProt + P78509 + + + Reactome + P78509 + + + + + 7q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 12601709[PMID]_20301709[PMID] + + leucine 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101009 + Autosomal dominant spastic paraplegia type 29 + + Disease + + + Disorder + + + + 16130112[PMID] + + spastic paraplegia 29 (autosomal dominant) + SPG29 + + + + Disorder-associated locus + + + + HGNC + 30161 + + + + + 1p31.1-p21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 101010 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101010 + Autosomal spastic paraplegia type 30 + + Disease + + + Disorder + + + + 22258533[PMID]_26410750[PMID] + + kinesin family member 1A + KIF1A + + UNC104 + + + gene with protein product + + + + Reactome + Q12756 + + + Ensembl + ENSG00000130294 + + + Genatlas + KIF1A + + + HGNC + 888 + + + OMIM + 601255 + + + SwissProt + Q12756 + + + ClinVar + KIF1A + + + + + 2q37.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 101011 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101011 + Autosomal dominant spastic paraplegia type 31 + + Disease + + + Disorder + + + + 22703882[PMID] + + receptor accessory protein 1 + REEP1 + + FLJ13110 + SPG31 + Yip2a + receptor expression enhancing protein 1 + + + gene with protein product + + + + ClinVar + REEP1 + + + Ensembl + ENSG00000068615 + + + Genatlas + REEP1 + + + HGNC + 25786 + + + OMIM + 609139 + + + SwissProt + Q9H902 + + + Reactome + Q9H902 + + + + + 2p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 101016 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101016 + Romano-Ward syndrome + + Disease + + + Disorder + + + + 25922419[PMID]_27807201[PMID]_27041150[PMID] + + triadin + TRDN + + triadin in skeletal muscle + TRISK + + + gene with protein product + + + + Ensembl + ENSG00000186439 + + + Genatlas + TRDN + + + HGNC + 12261 + + + OMIM + 603283 + + + Reactome + Q13061 + + + SwissProt + Q13061 + + + ClinVar + TRDN + + + + + 6q22.31 + 1 + + + + + Disease-causing germline mutation(s) 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mutation(s) (loss of function) in + + + Assessed + + + + 20301308[PMID]_24093767[PMID] + + caveolin 3 + CAV3 + + LGMD1C + LQT9 + M-caveolin + VIP-21 + VIP21 + + + gene with protein product + + + + Ensembl + ENSG00000182533 + + + Genatlas + CAV3 + + + HGNC + 1529 + + + OMIM + 601253 + + + Reactome + P56539 + + + SwissProt + P56539 + + + ClinVar + CAV3 + + + + + 3p25.3 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 12571597[PMID]_17242276[PMID]_19862833[PMID] + + ankyrin 2 + ANK2 + + CFAP87 + FAP87 + + + gene with protein product + + + + ClinVar + ANK2 + + + Reactome + Q01484 + + + SwissProt + Q01484 + + + Ensembl + ENSG00000145362 + + + Genatlas + ANK2 + + + HGNC + 493 + + + OMIM + 106410 + + + + + 4q25-q26 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 20301308[PMID]_24093767[PMID] + + potassium voltage-gated channel subfamily E regulatory subunit 1 + KCNE1 + + ISK + JLNS2 + LQT5 + minK + 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function) in + + + Assessed + + + + 20301308[PMID]_24093767[PMID] + + potassium inwardly rectifying channel subfamily J member 5 + KCNJ5 + + CIR + GIRK4 + KATP1 + Kir3.4 + LQT13 + G protein-activated inward rectifier potassium channel 4 + + + gene with protein product + + + + Ensembl + ENSG00000120457 + + + Genatlas + KCNJ5 + + + HGNC + 6266 + + + IUPHAR + 437 + + + OMIM + 600734 + + + Reactome + P48544 + + + SwissProt + P48544 + + + ClinVar + KCNJ5 + + + + + 11q24.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 19822806[PMID]_20538168[PMID] + + nitric oxide synthase 1 adaptor protein + NOS1AP + + C-terminal PDZ domain ligand of neuronal nitric oxide synthase + CAPON + KIAA0464 + + + gene with protein product + + + + Ensembl + ENSG00000198929 + + + Genatlas + NOS1AP + + + HGNC + 16859 + + + OMIM + 605551 + + + SwissProt + O75052 + + + ClinVar + NOS1AP + + + + + 1q23.3 + 1 + + + + + Modifying germline mutation in + + + Assessed + + + + 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+ SwissProt + P60709 + + + + + 7p22.1 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 36803395[PMID] + + WW domain containing transcription regulator 1 + WWTR1 + + DKFZp586I1419 + TAZ + transcriptional coactivator with PDZ-binding motif + + + gene with protein product + + + + ClinVar + WWTR1 + + + Ensembl + ENSG00000018408 + + + Genatlas + WWTR1 + + + HGNC + 24042 + + + OMIM + 607392 + + + Reactome + Q9GZV5 + + + SwissProt + Q9GZV5 + + + + + 3q25.1 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 36803395[PMID] + + serpin family E member 1 + SERPINE1 + + plasminogen activator inhibitor, type I + PAI + + + gene with protein product + + + + ClinVar + SERPINE1 + + + Ensembl + ENSG00000106366 + + + Genatlas + SERPINE1 + + + HGNC + 8583 + + + OMIM + 173360 + + + Reactome + P05121 + + + SwissProt + P05121 + + + + + 7q22.1 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 100984 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100984 + Autosomal dominant spastic paraplegia type 3 + + Disease + + + Disorder + + + + 11685207[PMID] + + atlastin GTPase 1 + ATL1 + + AD-FSP + FSP1 + atlastin + + + gene with protein product + + + + Reactome + Q8WXF7 + + + Genatlas + ATL1 + + + HGNC + 11231 + + + OMIM + 606439 + + + SwissProt + Q8WXF7 + + + Ensembl + ENSG00000198513 + + + ClinVar + ATL1 + + + + + 14q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 685067 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685067 + Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome + + Disease + + + Disorder + + + + 27736875[PMID] + + thrombospondin type laminin G domain and EAR repeats + TSPEAR + + MGC11251 + TSP-EAR + + + gene with protein product + + + + Ensembl + ENSG00000175894 + + + Genatlas + TSPEAR + + + HGNC + 1268 + + + OMIM + 612920 + + + SwissProt + Q8WU66 + + + ClinVar + TSPEAR + + + + + 21q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 685082 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685082 + Pediatric acute respiratory distress syndrome + + Disease + + + Disorder + + + + 27516224[PMID] + + ATP binding cassette subfamily A member 3 + ABCA3 + + ABC-C + EST111653 + LBM180 + + + gene with protein product + + + + ClinVar + ABCA3 + + + IUPHAR + 758 + + + Ensembl + ENSG00000167972 + + + Genatlas + ABCA3 + + + HGNC + 33 + + + OMIM + 601615 + + + Reactome + Q99758 + + + SwissProt + Q99758 + + + + + 16p13.3 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 11063734[PMID] + + surfactant protein B + SFTPB + + SP-B + + + gene with protein product + + + + ClinVar + SFTPB + + + Ensembl + ENSG00000168878 + + + Genatlas + SFTPB + + + HGNC + 10801 + + + OMIM + 178640 + + + Reactome + P07988 + + + SwissProt + P07988 + + + + + 2p11.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 29805340[PMID] + + surfactant protein C + SFTPC + + BRICD6 + BRICHOS domain containing 6 + PSP-C 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member 5A + KIF5A + + D12S1889 + MY050 + NKHC + neuron-specific kinesin heavy chain + + + gene with protein product + + + + ClinVar + KIF5A + + + Reactome + Q12840 + + + SwissProt + Q12840 + + + Ensembl + ENSG00000155980 + + + Genatlas + KIF5A + + + HGNC + 6323 + + + OMIM + 602821 + + + + + 12q13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 686465 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686465 + Fibrotic hypersensitivity pneumonitis + + Clinical subtype + + + Subtype of disorder + + + + 28648751[PMID] + + mucin 5B, oligomeric mucus/gel-forming + MUC5B + + MG1 + mucin MG1 + MUC-5B + + + gene with protein product + + + + Ensembl + ENSG00000117983 + + + Genatlas + MUC5B + + + HGNC + 7516 + + + OMIM + 600770 + + + Reactome + Q9HC84 + + + SwissProt + Q9HC84 + + + ClinVar + MUC5B + + + + + 11p15.5 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 100989 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100989 + Autosomal dominant spastic paraplegia type 8 + + Disease + + + Disorder + + + + 17160902[PMID] + + WASH complex subunit 5 + WASHC5 + + strumpellin + + + gene with protein product + + + + Ensembl + ENSG00000164961 + + + Genatlas + KIAA0196 + + + HGNC + 28984 + + + OMIM + 610657 + + + SwissProt + Q12768 + + + ClinVar + KIAA0196 + + + + + 8q24.13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 100988 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100988 + Autosomal dominant spastic paraplegia type 6 + + Disease + + + Disorder + + + + 14508710[PMID]_15643603[PMID] + + NIPA magnesium transporter 1 + NIPA1 + + SLC57A1 + MGC35570 + + + gene with protein product + + + + Ensembl + ENSG00000170113 + + + Genatlas + NIPA1 + + + HGNC + 17043 + + + OMIM + 608145 + + + Reactome + Q7RTP0 + + + SwissProt + Q7RTP0 + + + IUPHAR + 3033 + + + ClinVar + NIPA1 + + + + + 15q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 100986 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100986 + Autosomal recessive spastic paraplegia type 5A + + Disease + + + Disorder + + + + + + cytochrome P450 family 7 subfamily B member 1 + CYP7B1 + + + + gene with protein product + + + + ClinVar + CYP7B1 + + + HGNC + 2652 + + + OMIM + 603711 + + + Reactome + O75881 + + + SwissProt + O75881 + + + IUPHAR + 1355 + + + Ensembl + ENSG00000172817 + + + Genatlas + CYP7B1 + + + + + 8q12.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 100985 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100985 + Autosomal dominant spastic paraplegia type 4 + + Disease + + + Disorder + + + + 17895902[PMID] + + spastin + SPAST + + ADPSP + FSP2 + KIAA1083 + + + gene with protein product + + + + ClinVar + SPAST + + + Genatlas + SPAST + + + HGNC + 11233 + + + OMIM + 604277 + + + SwissProt + Q9UBP0 + + + Ensembl + ENSG00000021574 + + + + + 2p22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 687424 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687424 + ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion + + Etiological subtype + + + Subtype of disorder + + + + 25281490[PMID]_22847950[PMID] + + zinc finger MYND-type containing 11 + ZMYND11 + + BS69 + BRAM1 + + + gene with protein product + + + + ClinVar + ZMYND11 + + + Reactome + Q15326 + + + Ensembl + ENSG00000015171 + + + Genatlas + ZMYND11 + + + HGNC + 16966 + + + IUPHAR + 2782 + + + OMIM + 608668 + + + SwissProt + Q15326 + + + + + 10p15.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 100999 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100999 + Autosomal dominant spastic paraplegia type 19 + + Disease + + + Disorder + + + + + + spastic paraplegia 19 (autosomal dominant) + SPG19 + + + + Disorder-associated locus + + + + HGNC + 16706 + + + + + 9q33-q34 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 101000 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101000 + Autosomal recessive spastic paraplegia type 20 + + Disease + + + Disorder + + + + 12134148[PMID]_20437587[PMID] + + spartin + SPART + + KIAA0610 + TAHCCP1 + + + gene with protein product + + + + Reactome + Q8N0X7 + + + ClinVar + SPG20 + + + Ensembl + ENSG00000133104 + + + Genatlas + SPG20 + + + HGNC + 18514 + + + OMIM + 607111 + + + SwissProt + Q8N0X7 + + + + + 13q13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 686999 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686999 + Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome + + Disease + + + Disorder + + + + 37919452[PMID] + + phospholipase A and acyltransferase 3 + PLAAT3 + + phospholipase A/acyltransferase-3 + HREV107-3 + PLAAT-3 + adipose-specific PLA2 + H-REV107-1 + HREV107 + MGC118754. + AdPLA + phospholipase A/acyltransferase‐3 + + + gene with protein product + + + + Ensembl + ENSG00000176485 + + + OMIM + 613867 + + + SwissProt + P53816 + + + HGNC + 17825 + + + + + 11q12.3-q13.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 100997 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100997 + X-linked spastic paraplegia type 16 + + Disease + + + Disorder + + + + + + spastic paraplegia 16 (complicated, X-linked recessive) + SPG16 + + + + Disorder-associated locus + + + + HGNC + 14260 + + + + + Xq11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 100998 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100998 + Autosomal dominant spastic paraplegia type 17 + + Disease + + + Disorder + + + + 14981520[PMID] + + BSCL2 lipid droplet biogenesis associated, seipin + BSCL2 + + seipin + + 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normal and neoplastic cells + + + gene with protein product + + + + SwissProt + Q8WXG6 + + + Ensembl + ENSG00000110514 + + + OMIM + 603584 + + + HGNC + 6766 + + + + + 11p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 100996 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100996 + Kjellin syndrome + + Disease + + + Disorder + + + + 18394578[PMID]_19805727[PMID] + + zinc finger FYVE-type containing 26 + ZFYVE26 + + FYVE-CENT + KIAA0321 + spastizin + + + gene with protein product + + + + ClinVar + ZFYVE26 + + + Ensembl + ENSG00000072121 + + + Genatlas + ZFYVE26 + + + HGNC + 20761 + + + OMIM + 612012 + + + SwissProt + Q68DK2 + + + + + 14q24.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 686488 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686488 + RNU4-2-related autosomal dominant neurodevelopmental disorder + + Malformation syndrome + + + Disorder + + + + 38821540[PMID]_38645094[PMID] + + RNA, U4 small nuclear 2 + RNU4-2 + + U4A + U4c + U4b + + + Non-coding RNA + + + + Ensembl + ENSG00000202538 + + + HGNC + 10193 + + + OMIM + 620823 + + + + + 12q24.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 100993 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100993 + Autosomal dominant spastic paraplegia type 12 + + Disease + + + Disorder + + + + 32934340[PMID] + + ubiquitin associated protein 1 + UBAP1 + + + + gene with protein product + + + + HGNC + 12461 + + + Ensembl + ENSG00000165006 + + + OMIM + 609787 + + + SwissProt + Q9NZ09 + + + + + 9p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 22232211[PMID] + + reticulon 2 + RTN2 + + NSP-like protein 1 + NSP2 + NSPL1 + Neuroendocrine-specific protein-like 1 + + + gene with protein product + + + + ClinVar + RTN2 + + + Ensembl + ENSG00000125744 + + + Genatlas + RTN2 + + + HGNC + 10468 + + + OMIM + 603183 + + + SwissProt + O75298 + + + + + 19q13.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 686482 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686482 + BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome + + Malformation syndrome + + + Disorder + + + + 33522091[PMID] + + bromodomain PHD finger transcription factor + BPTF + + FAC1 + NURF301 + + + gene with protein product + + + + HGNC + 3581 + + + Ensembl + ENSG00000171634 + + + SwissProt + Q12830 + + + Reactome + Q12830 + + + IUPHAR + 2723 + + + OMIM + 601819 + + + + + 17q24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 100994 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100994 + Autosomal dominant spastic paraplegia type 13 + + Disease + + + Disorder + + + + 1189812[PMID] + + heat shock protein family D (Hsp60) member 1 + HSPD1 + + GROEL + HSP60 + GroEL + + + gene with protein product + + + + ClinVar + HSPD1 + + + Ensembl + ENSG00000144381 + + + Genatlas + HSPD1 + + + HGNC + 5261 + + + OMIM + 118190 + + + Reactome + P10809 + + + SwissProt + P10809 + + + + + 2q33.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 101007 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101007 + Autosomal recessive spastic paraplegia type 27 + + Disease + + + Disorder + + + + + + spastic paraplegia 27 (autosomal recessive) + SPG27 + + + + Disorder-associated locus + + + + HGNC + 26071 + + + + + 10q22.1-q24.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 688543 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688543 + Reticular dysgenesis-like severe combined immunodeficiency + + Disease + + + Disorder + + + + 31919089[PMID] + + Rac family small GTPase 2 + RAC2 + + EN-7 + + + gene with protein product + + + + ClinVar + RAC2 + + + Ensembl + ENSG00000128340 + + + Genatlas + RAC2 + + + HGNC + 9802 + + + OMIM + 602049 + + + Reactome + P15153 + + + SwissProt + P15153 + + + + + 22q13.1 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 101008 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101008 + Autosomal recessive spastic paraplegia type 28 + + Disease + + + Disorder + + + + 23176821[PMID] + + DDHD domain containing 1 + DDHD1 + + PA-PLA1 + KIAA1705 + iPLA1alpha + iPLA1α + PAPLA1 + iPLA1a + intracellular phospholipase A1 alpha + phosphatidic acid-preferring phospholipase A1 + + + gene with protein product + + + + ClinVar + DDHD1 + + + Ensembl + ENSG00000100523 + + + Genatlas + DDHD1 + + + HGNC + 19714 + + + OMIM + 614603 + + + Reactome + Q8NEL9 + + + SwissProt + Q8NEL9 + + + + + 14q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 101005 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101005 + Autosomal recessive spastic paraplegia type 25 + + Disease + + + Disorder + + + + + + spastic paraplegia 25 (autosomal recessive, with disc herniation) + SPG25 + + + + Disorder-associated locus + + + + HGNC + 25855 + + + + + 6q23-q24.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 101006 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101006 + Autosomal recessive spastic paraplegia type 26 + + Disease + + + Disorder + + + + 23746551[PMID] + + beta-1,4-N-acetyl-galactosaminyltransferase 1 + B4GALNT1 + + GD2 synthase, GM2 synthase + beta1-4GalNAc-T + + + gene with protein product + + + + Ensembl + ENSG00000135454 + + + Genatlas + B4GALNT1 + + + HGNC + 4117 + + + OMIM + 601873 + + + SwissProt + Q00973 + + + ClinVar + B4GALNT1 + + + Reactome + Q00973 + + + + + 12q13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 101003 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101003 + Autosomal recessive spastic paraplegia type 23 + + Disease + + + Disorder + + + + 28157540[PMID] + + dual serine/threonine and tyrosine protein kinase + DSTYK + + DustyPK + KIAA0472 + RIP5 + + + gene with protein product + + + + ClinVar + DSTYK + + + Ensembl + ENSG00000133059 + + + Genatlas + DSTYK + + + HGNC + 29043 + + + IUPHAR + 2008 + + + OMIM + 612666 + + + SwissProt + Q6XUX3 + + + + + 1q32.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + spastic paraplegia 23 (autosomal recessive) + SPG23 + + + + Disorder-associated locus + + + + HGNC + 21340 + + + + + 1q24-q32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 101004 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101004 + Autosomal recessive spastic paraplegia type 24 + + Disease + + + Disorder + + + + + + spastic paraplegia 24 (autosomal recessive) + SPG24 + + + + Disorder-associated locus + + + + HGNC + 22993 + + + + + 13q14 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 101001 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101001 + Autosomal recessive spastic paraplegia type 21 + + Disease + + + Disorder + + + + + + SPG21 abhydrolase domain containing, maspardin + SPG21 + + ACP33 + BM-019 + GL010 + MAST + ABHD21 + + + gene with protein product + + + + Reactome + Q9NZD8 + + + ClinVar + SPG21 + + + Ensembl + ENSG00000090487 + + + Genatlas + SPG21 + + + HGNC + 20373 + + + OMIM + 608181 + + + SwissProt + Q9NZD8 + + + + + 15q22.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 675775 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675775 + Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome + + Disease + + + Disorder + + + + 29784638[PMID] + + rabenosyn, RAB effector + RBSN + + Rabenosyn-5 + + + gene with protein product + + + + Reactome + Q9H1K0 + + + HGNC + 20759 + + + Ensembl + ENSG00000131381 + + + SwissProt + Q9H1K0 + + + OMIM + 609511 + + + Genatlas + RBSN + + + ClinVar + RBSN + + + + + 3p25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 675782 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675782 + Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN + + Disease + + + Disorder + + + + 35652444[PMID] + + rabenosyn, RAB effector + RBSN + + Rabenosyn-5 + + + gene with protein product + + + + Reactome + Q9H1K0 + + + HGNC + 20759 + + + Ensembl + ENSG00000131381 + + + SwissProt + Q9H1K0 + + + OMIM + 609511 + + + Genatlas + RBSN + + + ClinVar + RBSN + + + + + 3p25.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 676039 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676039 + Combined immunodeficiency due to FOXN1 haploinsufficiency + + Disease + + + Disorder + + + + 31447097[PMID] + + forkhead box N1 + FOXN1 + + FKHL20 + + + gene with protein product + + + + Reactome + O15353 + + + Ensembl + ENSG00000109101 + + + IUPHAR + 2958 + + + ClinVar + FOXN1 + + + Genatlas + FOXN1 + + + HGNC + 12765 + + + OMIM + 600838 + + + SwissProt + O15353 + + + + + 17q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 676125 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676125 + X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency + + Disease + + + Disorder + + + + 34326534[PMID] + + E74 like ETS transcription factor 4 + ELF4 + + ELFR + MEF + + + gene with protein product + + + + Ensembl + ENSG00000102034 + + + Genatlas + ELF4 + + + HGNC + 3319 + + + OMIM + 300775 + + + SwissProt + Q99607 + + + ClinVar + ELF4 + + + + + Xq26.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 100093 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100093 + Carcinoid syndrome + + Clinical syndrome + + + Disorder + + + + 12007193[PMID] + + succinate dehydrogenase complex subunit D + SDHD + + cybS + small subunit of cytochrome b + + + gene with protein product + + + + ClinVar + SDHD + + + Ensembl + ENSG00000204370 + + + Genatlas + SDHD + + + HGNC + 10683 + + + OMIM + 602690 + + + Reactome + O14521 + + + SwissProt + O14521 + + + + + 11q23.1 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 100924 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100924 + Porphyria due to ALA dehydratase deficiency + + Disease + + + Disorder + + + + 2063868[PMID]_16343966[PMID] + + aminolevulinate dehydratase + ALAD + + ALADH + PBGS + porphobilinogen synthase + + + gene with protein product + + + + Ensembl + ENSG00000148218 + + + Genatlas + ALAD + + + HGNC + 395 + + + OMIM + 125270 + + + Reactome + P13716 + + + SwissProt + P13716 + + + ClinVar + ALAD + + + + + 9q32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 684216 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684216 + Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome + + Malformation syndrome + + + Disorder + + + + 31928709[PMID]_34750377[PMID] + + tet methylcytosine dioxygenase 3 + TET3 + + MGC22014 + hCG_40738 + ten-eleven translocation 3 + + + gene with protein product + + + + OMIM + 613555 + + + SwissProt + O43151 + + + HGNC + 28313 + + + Ensembl + ENSG00000187605 + + + + + 2p13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 684305 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684305 + Neurooculocardiogenitourinary syndrome + + Disease + + + Disorder + + + + 31327508[PMID]_31327510[PMID] + + WD repeat domain 37 + WDR37 + + KIAA0982 + + + gene with protein product + + + + Ensembl + ENSG00000047056 + + + OMIM + 618586 + + + SwissProt + Q9Y2I8 + + + HGNC + 31406 + + + + + 10p15.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 100973 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100973 + FRAXE intellectual disability + + Disease + + + Disorder + + + + 21739600[PMID] + + ALF transcription elongation factor 2 + AFF2 + + FRAXE + + + gene with protein product + + + + Ensembl + ENSG00000155966 + + + Genatlas + AFF2 + + + HGNC + 3776 + + + OMIM + 300806 + + + SwissProt + P51816 + + + ClinVar + AFF2 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 16469443[PMID]_11015457[PMID] + + fragile X mental retardation associated 3 + FMR3 + + + + Disorder-associated locus + + + + ClinVar + FMR3 + + + Genatlas + FMR3 + + + HGNC + 3777 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 100974 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100974 + FRAXF syndrome + + Disease + + + Disorder + + + + 7874164[PMID] + + transmembrane protein 185A + TMEM185A + + + + gene with protein product + + + + Ensembl + ENSG00000269556 + + + Genatlas + TMEM185A + + + HGNC + 17125 + + + OMIM + 300031 + + + SwissProt + Q8NFB2 + + + ClinVar + TMEM185A + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 684742 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684742 + 2q13 microdeletion syndrome + + Malformation syndrome + + + Disorder + + + + 24694933[PMID] + + fibulin 7 + FBLN7 + + TM14 + FLJ37440 + + + gene with protein product + + + + Ensembl + ENSG00000144152 + + + HGNC + 26740 + + + OMIM + 611551 + + + SwissProt + Q53RD9 + + + + + 2q13 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 24694933[PMID] + + transmembrane protein 87B + TMEM87B + + FLJ14681 + + + gene with protein product + + + + Ensembl + ENSG00000153214 + + + OMIM + 617203 + + + SwissProt + Q96K49 + + + HGNC + 25913 + + + + + 2q13 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 100976 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100976 + Bathing suit ichthyosis + + Disease + + + Disorder + + + + 16968736[PMID]_20301593[PMID] + + transglutaminase 1 + TGM1 + + K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase + LI + LI1 + TGASE + TGK + + + gene with protein product + + + + ClinVar + TGM1 + + + Reactome + P22735 + + + Ensembl + ENSG00000092295 + + + Genatlas + TGM1 + + + HGNC + 11777 + + + OMIM + 190195 + + + SwissProt + P22735 + + + + + 14q12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 684232 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684232 + Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome + + Malformation syndrome + + + Disorder + + + + 33513338[PMID] + + SATB homeobox 1 + SATB1 + + + + gene with protein product + + + + SwissProt + Q01826 + + + Reactome + Q01826 + + + OMIM + 602075 + + + HGNC + 10541 + + + Ensembl + ENSG00000182568 + + + + 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ENSG00000106128 + + + Genatlas + GHRHR + + + HGNC + 4266 + + + IUPHAR + 247 + + + OMIM + 139191 + + + Reactome + Q02643 + + + SwissProt + Q02643 + + + + + 7p14.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 684240 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684240 + Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome + + Malformation syndrome + + + Disorder + + + + 32006098[PMID] + + Yip1 interacting factor homolog B, membrane trafficking protein + YIF1B + + FinGER8 + + + gene with protein product + + + + Ensembl + ENSG00000167645 + + + OMIM + 619109 + + + SwissProt + Q5BJH7 + + + HGNC + 30511 + + + + + 19q13.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 100054 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100054 + F12-related hereditary angioedema with normal C1Inh + + Clinical subtype + + + Subtype of disorder + + + + 20384613[PMID] + 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mutation(s) in + + + Assessed + + + + + + 100057 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100057 + Renin-angiotensin-aldosterone system-blocker-induced angioedema + + Disease + + + Disorder + + + + + + X-prolyl aminopeptidase 2 + XPNPEP2 + + + + gene with protein product + + + + ClinVar + XPNPEP2 + + + Ensembl + ENSG00000122121 + + + Genatlas + XPNPEP2 + + + HGNC + 12823 + + + IUPHAR + 1579 + + + OMIM + 300145 + + + SwissProt + O43895 + + + Reactome + O43895 + + + + + Xq26.1 + 1 + + + + + Major susceptibility factor in + + + Not yet assessed + + + + + + 692173 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692173 + Marbach-Schaaf neurodevelopmental syndrome + + Disease + + + Disorder + + + + 33833410[PMID] + + protein kinase cAMP-dependent type I regulatory subunit beta + PRKAR1B + + + + gene with protein product + + + + IUPHAR + 1473 + + + OMIM + 176911 + + + Reactome + P31321 + + + SwissProt + P31321 + + + Ensembl + ENSG00000188191 + + + Genatlas 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Disease + + + Disorder + + + + 38410820[PMID] + + Rac family small GTPase 2 + RAC2 + + EN-7 + + + gene with protein product + + + + ClinVar + RAC2 + + + Ensembl + ENSG00000128340 + + + Genatlas + RAC2 + + + HGNC + 9802 + + + OMIM + 602049 + + + Reactome + P15153 + + + SwissProt + P15153 + + + + + 22q13.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 693549 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693549 + Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome + + Malformation syndrome + + + Disorder + + + + 31834374[PMID]_31839203[PMID]_37575653[PMID] + + MN1 proto-oncogene, transcriptional regulator + MN1 + + MGCR1 + MGCR1-PEN + probable tumor suppressor protein MN1 + + + gene with protein product + + + + Ensembl + ENSG00000169184 + + + Genatlas + MN1 + + + HGNC + 7180 + + + OMIM + 156100 + + + SwissProt + Q10571 + + + ClinVar + MN1 + + + + + 22q12.1 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 692790 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692790 + ATP6AP1-CDG + + Disease + + + Disorder + + + + 35732497[PMID]_27231034[PMID] + + ATPase H+ transporting accessory protein 1 + ATP6AP1 + + VATPS1 + XAP3 + X-associated protein 3 + XAP-3 + vacuolar ATPase subunit S1 + 16A + Ac45 + ORF + CF2 + + + gene with protein product + + + + HGNC + 868 + + + Ensembl + ENSG00000071553 + + + OMIM + 300197 + + + SwissProt + Q15904 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 100069 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100069 + Semantic dementia + + Disease + + + Disorder + + + + 11094121[PMID] + + presenilin 1 + PSEN1 + + FAD + PS1 + S182 + familial Alzheimer Disease + PS-1 + PSNL1 + + + gene with protein product + + + + ClinVar + PSEN1 + + + Ensembl + ENSG00000080815 + + + Genatlas + PSEN1 + + + HGNC + 9508 + + + IUPHAR + 2402 + + + OMIM + 104311 + + + Reactome + P49768 + + + SwissProt + P49768 + + + + + 14q24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 27543298[PMID]_21614538[PMID] + + transmembrane protein 106B + TMEM106B + + FLJ11273 + MGC33727 + + + gene with protein product + + + + HGNC + 22407 + + + Ensembl + ENSG00000106460 + + + OMIM + 613413 + + + Genatlas + TMEM106B + + + SwissProt + Q9NUM4 + + + ClinVar + TMEM106B + + + + + 7p21.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 23597030[PMID] + + charged multivesicular body protein 2B + CHMP2B + + CHMP2.5 + DKFZP564O123 + VPS2 homolog B (S. cerevisiae) + VPS2B + + + gene with protein product + + + + Ensembl + ENSG00000083937 + + + Genatlas + CHMP2B + + + HGNC + 24537 + + + OMIM + 609512 + + + Reactome + Q9UQN3 + + + SwissProt + Q9UQN3 + + + ClinVar + CHMP2B + + + + + 3p11.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 24139279[PMID]_25042114[PMID] + + triggering receptor expressed on myeloid cells 2 + TREM2 + + TREM-2 + Trem2a + Trem2b + Trem2c + + + gene with protein product + + + + Ensembl + ENSG00000095970 + + + Genatlas + TREM2 + + + HGNC + 17761 + + + OMIM + 605086 + + + Reactome + Q9NZC2 + + + SwissProt + Q9NZC2 + + + ClinVar + TREM2 + + + + + 6p21.1 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 23597030[PMID] + + microtubule associated protein tau + MAPT + + FLJ31424 + FTDP-17 + G protein beta1/gamma2 subunit-interacting factor 1 + MGC138549 + MSTD + MTBT1 + MTBT2 + PPND + PPP1R103 + microtubule-associated protein tau, isoform 4 + protein phosphatase 1, regulatory subunit 103 + tau + tau-40 + TAU + Tau-PHF6 + Tau-derived paired helical filament hexapeptide + + + gene with protein product + + + + Ensembl + ENSG00000186868 + + + Genatlas + MAPT + + + HGNC + 6893 + + + OMIM + 157140 + + + Reactome + P10636 + + + SwissProt + P10636 + + + ClinVar + MAPT + + + + + 17q21.31 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 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zinc transporter 7 + ZIP7 + RING5 + KE4 + D6S2244E + H2-KE4 + + + gene with protein product + + + + IUPHAR + 1186 + + + Ensembl + ENSG00000112473 + + + OMIM + 601416 + + + Reactome + Q92504 + + + SwissProt + Q92504 + + + HGNC + 4927 + + + + + 6p21.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 100070 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100070 + Progressive non-fluent aphasia + + Disease + + + Disorder + + + + 27543298[PMID]_21614538[PMID] + + transmembrane protein 106B + TMEM106B + + FLJ11273 + MGC33727 + + + gene with protein product + + + + HGNC + 22407 + + + Ensembl + ENSG00000106460 + + + OMIM + 613413 + + + Genatlas + TMEM106B + + + SwissProt + Q9NUM4 + + + ClinVar + TMEM106B + + + + + 7p21.3 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 15122701[PMID] + + presenilin 1 + PSEN1 + + FAD + PS1 + S182 + familial Alzheimer Disease + PS-1 + PSNL1 + + + gene with protein product + + + + ClinVar + PSEN1 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6p21.1 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 23597030[PMID] + + valosin containing protein + VCP + + CDC48 + p97 + IBMPFD + TERA + transitional endoplasmic reticulum ATPase + + + gene with protein product + + + + ClinVar + VCP + + + Ensembl + ENSG00000165280 + + + Genatlas + VCP + + + HGNC + 12666 + + + OMIM + 601023 + + + Reactome + P55072 + + + SwissProt + P55072 + + + + + 9p13.3 + 1 + + + + + Major susceptibility factor in + + + Not yet assessed + + + + 23597030[PMID] + + microtubule associated protein tau + MAPT + + FLJ31424 + FTDP-17 + G protein beta1/gamma2 subunit-interacting factor 1 + MGC138549 + MSTD + MTBT1 + MTBT2 + PPND + PPP1R103 + microtubule-associated protein tau, isoform 4 + protein phosphatase 1, regulatory subunit 103 + tau + tau-40 + TAU + Tau-PHF6 + Tau-derived paired helical filament hexapeptide + + + gene with protein product + + + + Ensembl + ENSG00000186868 + + + Genatlas + MAPT + + + HGNC + 6893 + + + OMIM + 157140 + + + Reactome 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32905580[PMID] + + folliculin interacting protein 1 + FNIP1 + + KIAA1961 + + + gene with protein product + + + + HGNC + 29418 + + + OMIM + 610594 + + + Ensembl + ENSG00000217128 + + + SwissProt + Q8TF40 + + + + + 5q31.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 100020 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100020 + Myelodysplastic neoplasm with increased blasts type 2 + + Clinical subtype + + + Subtype of disorder + + + + 19483684[PMID]_19557078[PMID] + + tet methylcytosine dioxygenase 2 + TET2 + + FLJ20032 + ten-eleven translocation 2 + + + gene with protein product + + + + ClinVar + TET2 + + + Ensembl + ENSG00000168769 + + + Genatlas + TET2 + + + HGNC + 25941 + + + OMIM + 612839 + + + Reactome + Q6N021 + + + SwissProt + Q6N021 + + + + + 4q24 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 100019 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100019 + Myelodysplastic neoplasm with increased blasts type 1 + + Clinical subtype + + + Subtype of disorder + + + + 19483684[PMID]_19557078[PMID] + + tet methylcytosine dioxygenase 2 + TET2 + + FLJ20032 + ten-eleven translocation 2 + + + gene with protein product + + + + ClinVar + TET2 + + + Ensembl + ENSG00000168769 + + + Genatlas + TET2 + + + HGNC + 25941 + + + OMIM + 612839 + + + Reactome + Q6N021 + + + SwissProt + Q6N021 + + + + + 4q24 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 688581 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688581 + Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome + + Malformation syndrome + + + Disorder + + + + 27811305[PMID]_28089922[PMID] + + AMMECR nuclear protein 1 + AMMECR1 + + + + gene with protein product + + + + ClinVar + AMMECR1 + + + Ensembl + ENSG00000101935 + + + Genatlas + AMMECR1 + + + HGNC + 467 + + + OMIM + 300195 + + + SwissProt + Q9Y4X0 + + + Reactome + Q9Y4X0 + + 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mutation(s) in + + + Assessed + + + + + + 689021 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689021 + Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome + + Disease + + + Disorder + + + + 28187523[PMID] + + anoctamin 5 + ANO5 + + GDD1 + + + gene with protein product + + + + Ensembl + ENSG00000171714 + + + Genatlas + ANO5 + + + HGNC + 27337 + + + OMIM + 608662 + + + Reactome + Q75V66 + + + SwissProt + Q75V66 + + + ClinVar + ANO5 + + + + + 11p14.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 100032 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100032 + Hypocalcified amelogenesis imperfecta + + Clinical subtype + + + Subtype of disorder + + + + 30506946[PMID] + + RELT TNF receptor + RELT + + FLJ14993 + receptor expressed in lymphoid tissues + + + gene with protein product + + + + HGNC + 13764 + + + Ensembl + ENSG00000054967 + + + SwissProt + Q969Z4 + + + IUPHAR + 1892 + + + OMIM + 611211 + + + + + 11q13.4 + 1 + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100034 + Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism + + Clinical subtype + + + Subtype of disorder + + + + 15666299[PMID] + + distal-less homeobox 3 + DLX3 + + + + gene with protein product + + + + Ensembl + ENSG00000064195 + + + Genatlas + DLX3 + + + HGNC + 2916 + + + OMIM + 600525 + + + SwissProt + O60479 + + + ClinVar + DLX3 + + + + + 17q21.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 100033 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100033 + Hypomaturation amelogenesis imperfecta + + Clinical subtype + + + Subtype of disorder + + + + 27693231[PMID] + + G protein-coupled receptor 68 + GPR68 + + OGR1 + + + gene with protein product + + + + ClinVar + GPR68 + + + HGNC + 4519 + + + OMIM + 601404 + + + Genatlas + GPR68 + + + SwissProt + Q15743 + + + Reactome + Q15743 + + + Ensembl + ENSG00000119714 + + + IUPHAR + 114 + + + + + 14q32.11 + 1 + + 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24621671[PMID] + + solute carrier family 24 member 4 + SLC24A4 + + NCKX4 + Na/Ca-K exchanger 4 + + + gene with protein product + + + + Ensembl + ENSG00000140090 + + + Genatlas + SLC24A4 + + + HGNC + 10978 + + + OMIM + 609840 + + + Reactome + Q8NFF2 + + + SwissProt + Q8NFF2 + + + IUPHAR + 1048 + + + ClinVar + SLC24A4 + + + + + 14q32.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 689231 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689231 + IFIH1-related hereditary spastic paraplegia + + Disease + + + Disorder + + + + 31427910[PMID] + + interferon induced with helicase C domain 1 + IFIH1 + + Hlcd + IDDM19 + MDA-5 + MDA5 + helicard + melanoma differentiation-associated gene 5 + + + gene with protein product + + + + IUPHAR + 2921 + + + Ensembl + ENSG00000115267 + + + Genatlas + IFIH1 + + + HGNC + 18873 + + + OMIM + 606951 + + + Reactome + Q9BYX4 + + + SwissProt + Q9BYX4 + + + ClinVar + IFIH1 + + + + + 2q24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 689234 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689234 + RNASEH2B-related hereditary spastic paraplegia + + Disease + + + Disorder + + + + 38229641[PMID] + + ribonuclease H2 subunit B + RNASEH2B + + FLJ11712 + + + gene with protein product + + + + ClinVar + RNASEH2B + + + Ensembl + ENSG00000136104 + + + Genatlas + RNASEH2B + + + HGNC + 25671 + + + OMIM + 610326 + + + SwissProt + Q5TBB1 + + + + + 13q14.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 689397 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689397 + Poirier-Bienvenu neurodevelopmental syndrome + + Malformation syndrome + + + Disorder + + + + 34740143[PMID] + + casein kinase 2 beta + CSNK2B + + Ckb1 + Ckb2 + + + gene with protein product + + + + HGNC + 2460 + + + Ensembl + ENSG00000204435 + + + SwissProt + P67870 + + + OMIM + 115441 + + + Genatlas + CSNK2B + + + Reactome + P67870 + + + IUPHAR + 1551 + + + ClinVar + CSNK2B + + + + + 6p21.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 689408 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689408 + Shashi-Pena syndrome + + Malformation syndrome + + + Disorder + + + + 27693232[PMID] + + ASXL transcriptional regulator 2 + ASXL2 + + FLJ10898 + ASXH2 + KIAA1685 + + + gene with protein product + + + + Ensembl + ENSG00000143970 + + + OMIM + 612991 + + + SwissProt + Q76L83 + + + HGNC + 23805 + + + + + 2p23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 689430 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689430 + Adenoid ameloblastoma + + Disease + + + Disorder + + + + 35840721[PMID] + + catenin beta 1 + CTNNB1 + + armadillo + beta-catenin + + + gene with protein product + + + + ClinVar + CTNNB1 + + + Ensembl + ENSG00000168036 + + + Genatlas + CTNNB1 + + + HGNC + 2514 + + + OMIM + 116806 + + + Reactome + P35222 + + + SwissProt + P35222 + + + + + 3p22.1 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 100044 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100044 + Autosomal dominant intermediate Charcot-Marie-Tooth disease type B + + Disease + + + Disorder + + + + 15731758[PMID]_20614582[PMID] + + dynamin 2 + DNM2 + + CMT2M + CMTDI1 + CMTDIB + DI-CMTB + DYN2 + DYNII + cytoskeletal protein + dynamin II + + + gene with protein product + + + + ClinVar + DNM2 + + + Ensembl + ENSG00000079805 + + + Genatlas + DNM2 + + + HGNC + 2974 + + + OMIM + 602378 + + + Reactome + P50570 + + + SwissProt + P50570 + + + + + 19p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 100045 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100045 + Autosomal dominant intermediate Charcot-Marie-Tooth disease type C + + Disease + + + Disorder + + + + 16429158[PMID] + + tyrosyl-tRNA synthetase 1 + YARS1 + + YRS + YTS + tyrRS + tyrosine tRNA ligase 1, cytoplasmic + + + gene with protein product + + + + Ensembl + ENSG00000134684 + + + Genatlas + YARS + + + HGNC + 12840 + + + OMIM + 603623 + + + Reactome + P54577 + + + SwissProt + P54577 + + + ClinVar + YARS + + + + + 1p35.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 689829 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689829 + Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome + + Disease + + + Disorder + + + + 37092537[PMID] + + retinoic acid receptor beta + RARB + + HAP + NR1B2 + RRB2 + RARbeta + RAR-beta + + + gene with protein product + + + + Ensembl + ENSG00000077092 + + + Genatlas + RARB + + + HGNC + 9865 + + + IUPHAR + 591 + + + OMIM + 180220 + + + Reactome + P10826 + + + SwissProt + P10826 + + + ClinVar + RARB + + + + + 3p24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 100046 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100046 + Autosomal dominant intermediate Charcot-Marie-Tooth disease type D + + Disease + + + Disorder + + + + 10406984[PMID] + + myelin protein zero + MPZ + + CMT2I + CMT2J + HMSNIB + P0 + + + gene with protein product + + + + ClinVar + MPZ + + + Ensembl + ENSG00000158887 + + + Genatlas + MPZ + + + HGNC + 7225 + + + OMIM + 159440 + + + SwissProt + P25189 + + + + + 1q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 689822 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689822 + Structural heart defects-renal anomalies syndrome + + Malformation syndrome + + + Disorder + + + + 37186866[PMID]_34612517[PMID] + + transmembrane protein 260 + TMEM260 + + FLJ20392 + + + gene with protein product + + + + Ensembl + ENSG00000070269 + + + OMIM + 617449 + + + SwissProt + Q9NX78 + + + HGNC + 20185 + + + + + 14q22.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 100050 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100050 + Hereditary angioedema type 1 + + Etiological subtype + + + Subtype of disorder + + + + 24456027[PMID] + + serpin family G member 1 + SERPING1 + + C1-inhibitor + C1-INH + C1IN + HAE1 + HAE2 + angioedema, hereditary + plasma protease C1 inhibitor + C1INH + + + gene with protein product + + + + ClinVar + SERPING1 + + + Ensembl + ENSG00000149131 + + + Genatlas + SERPING1 + + + HGNC + 1228 + + + OMIM + 606860 + + + Reactome + P05155 + + + SwissProt + P05155 + + + + + 11q12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 647667 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647667 + Mandibuloacral dysplasia associated to MTX2 + + Malformation syndrome + + + Disorder + + + + 36269149[PMID] + + metaxin 2 + MTX2 + + + + gene with protein product + + + + SwissProt + O75431 + + + OMIM + 608555 + + + HGNC + 7506 + + + Ensembl + ENSG00000128654 + + + + + 2q31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 647676 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647676 + Multiple epiphyseal dysplasia type 7 + + Disease + + + Disorder + + + + 28742282[PMID] + + calcium activated nucleotidase 1 + CANT1 + + SCAN-1 + SHAPY + Soluble Ca-Activated Nucleotidase, isozyme 1 + apyrase 1 homolog (C. lectularius) + + + gene with protein product + + + + Reactome + Q8WVQ1 + + + Ensembl + ENSG00000171302 + + + Genatlas + CANT1 + + + HGNC + 19721 + + + OMIM + 613165 + + + SwissProt + Q8WVQ1 + + + ClinVar + CANT1 + + + + + 17q25.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 646113 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646113 + Intermediate collagen VI-related muscular dystrophy + + Disease + + + Disorder + + + + 21496625[PMID] + + collagen type VI alpha 1 chain + COL6A1 + + + + gene with protein product + + + + ClinVar + COL6A1 + + + SwissProt + P12109 + + + Ensembl + ENSG00000142156 + + + Genatlas + COL6A1 + + + HGNC + 2211 + + + OMIM + 120220 + + + Reactome + P12109 + + + + + 21q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301676[PMID] + + collagen type VI alpha 2 chain + COL6A2 + + + + gene with protein product + + + + ClinVar + COL6A2 + + + Ensembl + ENSG00000142173 + + + Genatlas + COL6A2 + + + HGNC + 2212 + + + OMIM + 120240 + + + Reactome + P12110 + + + SwissProt + P12110 + + + + + 21q22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 24271325[PMID] + + collagen type VI alpha 3 chain + COL6A3 + + + + gene with protein product + + + + ClinVar + COL6A3 + + + Ensembl + ENSG00000163359 + + + Genatlas + COL6A3 + + + HGNC + 2213 + + + OMIM + 120250 + + + Reactome + P12111 + + + SwissProt + P12111 + + + + + 2q37.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 646278 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646278 + CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome + + Disease + + + Disorder + + + + 35063350[PMID] + + cyclin dependent kinase 13 + CDK13 + + CDC2L + CHED + cholinesterase-related cell division controller + KIAA1791 + + + gene with protein product + + + + IUPHAR + 1966 + + + ClinVar + CDK13 + + + HGNC + 1733 + + + Ensembl + ENSG00000065883 + + + SwissProt + Q14004 + + + OMIM + 603309 + + + Genatlas + CDK13 + + + Reactome + Q14004 + + + + + 7p14.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 100008 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100008 + ACys amyloidosis + + Clinical subtype + + + Subtype of disorder + + + + 2541223[PMID] + + cystatin C + CST3 + + + + gene with protein product + + + + ClinVar + CST3 + + + Ensembl + ENSG00000101439 + + + Genatlas + CST3 + + + HGNC + 2475 + + + OMIM + 604312 + + + Reactome + P01034 + + + SwissProt + P01034 + + + + + 20p11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 100006 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100006 + ABeta amyloidosis, Dutch type + + Clinical subtype + + + Subtype of disorder + + + + 24870607[PMID] + + amyloid beta precursor protein + APP + + peptidase nexin-II + alpha-sAPP + + + gene with protein product + + + + Ensembl + ENSG00000142192 + + + Genatlas + APP + + + HGNC + 620 + + + OMIM + 104760 + + + Reactome + P05067 + + + SwissProt + P05067 + + + ClinVar + APP + + + + + 21q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99989 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99989 + Intermediate DEND syndrome + + Disease + + + Disorder + + + + + + potassium inwardly rectifying channel subfamily J member 11 + KCNJ11 + + ATP-sensitive inward rectifier potassium channel 11 + BIR + Kir6.2 + beta-cell inward rectifier + + + gene with protein product + + + + Ensembl + ENSG00000187486 + + + Genatlas + KCNJ11 + + + HGNC + 6257 + + + IUPHAR + 442 + + + OMIM + 600937 + + + Reactome + Q14654 + + + SwissProt + Q14654 + + + ClinVar + KCNJ11 + + + + + 11p15.1 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 99977 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99977 + Squamous cell carcinoma of the esophagus + + Disease + + + Disorder + + + + 11956080[PMID]_22213016[PMID] + + WW domain containing oxidoreductase + WWOX + + WOX1 + short chain dehydrogenase/reductase family 41C, member 1 + FOR + SDR41C1 + + + gene with protein product + + + + Ensembl + ENSG00000186153 + + + Genatlas + WWOX + + + HGNC + 12799 + + + OMIM + 605131 + + + Reactome + Q9NZC7 + + + SwissProt + Q9NZC7 + + + ClinVar + WWOX + + + + + 16q23.1-q23.2 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 12154016[PMID] + + ring finger protein 6 + RNF6 + + DKFZp686P0776 + RING-H2 protein RNF-6 + + + gene with protein product + + + + ClinVar + RNF6 + + + HGNC + 10069 + + + OMIM + 604242 + + + Genatlas + RNF6 + + + SwissProt + Q9Y252 + + + Reactome + Q9Y252 + + + Ensembl + ENSG00000127870 + + + + + 13q12.13 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 17680270[PMID] + + transforming growth factor beta receptor 2 + TGFBR2 + + TBRII + TBR-ii + + + gene with protein product + + + + ClinVar + TGFBR2 + + + Ensembl + ENSG00000163513 + + + Genatlas + TGFBR2 + + + HGNC + 11773 + + + IUPHAR + 1795 + + + OMIM + 190182 + + + Reactome + P37173 + + + SwissProt + P37173 + + + + + 3p24.1 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 10213508[PMID] + + DLEC1 cilia and flagella associated protein + DLEC1 + + FAP81 + CFAP81 + DLC1 + cilia and flagella associated protein 81 + + + gene with protein product + + + + Ensembl + ENSG00000008226 + + + OMIM + 604050 + + + SwissProt + Q9Y238 + + + Genatlas + DLEC1 + + + HGNC + 2899 + + + ClinVar + DLEC1 + + + + + 3p22.2 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 99976 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99976 + Adenocarcinoma of the oesophagus and oesophagogastric junction + + Disease + + + Disorder + + + + 27468182[PMID] + + erb-b2 receptor tyrosine kinase 2 + ERBB2 + + HER2 + NEU + HER-2 + CD340 + neuro/glioblastoma derived oncogene homolog + human epidermal growth factor receptor 2 + metastatic lymph node gene 19 + c-ERB-2 + p185(erbB2) + MLN-19 + c-ERB2 + + + gene with protein product + + + + SwissProt + P04626 + + + ClinVar + ERBB2 + + + OMIM + 164870 + + + IUPHAR + 2019 + + + Ensembl + ENSG00000141736 + + + Genatlas + ERBB2 + + + HGNC + 3430 + + + + + 17q12 + 1 + + + + + Biomarker tested in + + + Assessed + + + + + + 99971 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99971 + Well-differentiated liposarcoma + + Histopathological subtype + + + Subtype of disorder + + + + + + cyclin dependent kinase 4 + CDK4 + + PSK-J3 + + + gene with protein product + + + + Ensembl + ENSG00000135446 + + + Genatlas + CDK4 + + + HGNC + 1773 + + + IUPHAR + 1976 + + + OMIM + 123829 + + + Reactome + P11802 + + + SwissProt + P11802 + + + ClinVar + CDK4 + + + + + 12q14.1 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + high mobility group AT-hook 2 + HMGA2 + + BABL + LIPO + + + gene with protein product + + + + Genatlas + HMGA2 + + + HGNC + 5009 + + + OMIM + 600698 + + + Reactome + P52926 + + + SwissProt + P52926 + + + Ensembl + ENSG00000149948 + + + ClinVar + HMGA2 + + + + + 12q14.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + MDM2 proto-oncogene + MDM2 + + HDM2 + MGC5370 + + + gene with protein product + + + + Ensembl + ENSG00000135679 + + + Genatlas + MDM2 + + + HGNC + 6973 + + + OMIM + 164785 + + + Reactome + Q00987 + + + SwissProt + Q00987 + + + IUPHAR + 3136 + + + ClinVar + MDM2 + + + + + 12q15 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 99970 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99970 + Dedifferentiated liposarcoma + + Histopathological subtype + + + Subtype of disorder + + + + + + cyclin dependent kinase 4 + CDK4 + + PSK-J3 + + + gene with protein product + + + + Ensembl + ENSG00000135446 + + + Genatlas + CDK4 + + + HGNC + 1773 + + + IUPHAR + 1976 + + + OMIM + 123829 + + + Reactome + P11802 + + + SwissProt + P11802 + + + ClinVar + CDK4 + + + + + 12q14.1 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + high mobility group AT-hook 2 + HMGA2 + + BABL + LIPO + + + gene with protein product + + + + Genatlas + HMGA2 + + + HGNC + 5009 + + + OMIM + 600698 + + + Reactome + P52926 + + + SwissProt + P52926 + + + Ensembl + ENSG00000149948 + + + ClinVar + HMGA2 + + + + + 12q14.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + MDM2 proto-oncogene + MDM2 + + HDM2 + MGC5370 + + + gene with protein product + + + + Ensembl + ENSG00000135679 + + + Genatlas + MDM2 + + + HGNC + 6973 + + + OMIM + 164785 + + + Reactome + Q00987 + + + SwissProt + Q00987 + + + IUPHAR + 3136 + + + ClinVar + MDM2 + + + + + 12q15 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 99967 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99967 + Myxoid/round cell liposarcoma + + Histopathological subtype + + + Subtype of disorder + + + + + + FUS RNA binding protein + FUS + + FUS1 + HNRNPP2 + TLS + heterogeneous nuclear ribonucleoprotein P2 + hnRNP-P2 + translocated in liposarcoma + + + gene with protein product + + + + ClinVar + FUS + + + Ensembl + ENSG00000089280 + + + Genatlas + FUS + + + HGNC + 4010 + + + OMIM + 137070 + + + Reactome + P35637 + + + SwissProt + P35637 + + + + + 16p11.2 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + DNA damage inducible transcript 3 + DDIT3 + + C/EBP homologous protein + C/EBP zeta + CHOP + CHOP10 + GADD153 + growth arrest and DNA-damage-inducible gene + + + gene with protein product + + + + Ensembl + ENSG00000175197 + + + Genatlas + DDIT3 + + + HGNC + 2726 + + + OMIM + 126337 + + + Reactome + P35638 + + + SwissProt + P35638 + + + ClinVar + DDIT3 + + + + + 12q13.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 99966 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99966 + Atypical teratoid rhabdoid tumor + + Disease + + + Disorder + + + + + + SWI/SNF related BAF chromatin remodeling complex subunit B1 + SMARCB1 + + BAF47 + Ini1 + PPP1R144 + RDT + Sfh1p + Snr1 + hSNFS + integrase interactor 1 + malignant rhabdoid tumor suppressor + protein phosphatase 1, regulatory subunit 144 + sucrose nonfermenting, yeast, homolog-like 1 + INI-1 + SNF5 + + + gene with protein product + + + + ClinVar + SMARCB1 + + + Reactome + Q12824 + + + SwissProt + Q12824 + + + Ensembl + ENSG00000099956 + + + Genatlas + SMARCB1 + + + HGNC + 11103 + + + OMIM + 601607 + + + + + 22q11.23 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 99961 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99961 + Benign recurrent intrahepatic cholestasis type 2 + + Clinical subtype + + + Subtype of disorder + + + + + + ATP binding cassette subfamily B member 11 + ABCB11 + + ABC member 16, MDR/TAP subfamily + ABC16 + PFIC-2 + PGY4 + SPGP + + + gene with protein product + + + + IUPHAR + 778 + + + Ensembl + ENSG00000073734 + + + Genatlas + ABCB11 + + + HGNC + 42 + + + OMIM + 603201 + + + Reactome + O95342 + + + SwissProt + O95342 + + + ClinVar + ABCB11 + + + + + 2q31.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99960 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99960 + Benign recurrent intrahepatic cholestasis type 1 + + Clinical subtype + + + Subtype of disorder + + + + + + ATPase phospholipid transporting 8B1 + ATP8B1 + + ATPIC + PFIC + phospholipid-transporting ATPase IC + + + gene with protein product + + + + IUPHAR + 856 + + + Ensembl + ENSG00000081923 + + + Genatlas + ATP8B1 + + + HGNC + 3706 + + + OMIM + 602397 + + + Reactome + O43520 + + + SwissProt + O43520 + + + ClinVar + ATP8B1 + + + + + 18q21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 643538 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643538 + Hao-Fountain syndrome due to USP7 mutation + + Etiological subtype + + + Subtype of disorder + + + + 30679821[PMID] + + ubiquitin specific peptidase 7 + USP7 + + + + gene with protein product + + + + HGNC + 12630 + + + SwissProt + Q93009 + + + ClinVar + USP7 + + + OMIM + 602519 + + + Ensembl + ENSG00000187555 + + + Reactome + Q93009 + + + Genatlas + USP7 + + + + + 16p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 643503 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643503 + Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome + + Disease + + + Disorder + + + + 32643838[PMID] + + ABL proto-oncogene 1, non-receptor tyrosine kinase + ABL1 + + JTK7 + c-ABL + p150 + + + gene with protein product + + + + ClinVar + ABL1 + + + OMIM + 189980 + + + Reactome + P00519 + + + SwissProt + P00519 + + + Ensembl + ENSG00000097007 + + + Genatlas + ABL1 + + + HGNC + 76 + + + IUPHAR + 1923 + + + + + 9q34.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99955 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99955 + Charcot-Marie-Tooth disease type 4B1 + + Disease + + + Disorder + + + + 20301641[PMID] + + myotubularin related protein 2 + MTMR2 + + KIAA1073 + phosphatidylinositol-3-phosphatase + phosphoinositide-3-phosphatase + + + gene with protein product + + + + ClinVar + MTMR2 + + + Ensembl + ENSG00000087053 + + + Genatlas + MTMR2 + + + HGNC + 7450 + + + OMIM + 603557 + + + Reactome + Q13614 + + + SwissProt + Q13614 + + + + + 11q21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99956 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99956 + Charcot-Marie-Tooth disease type 4B2 + + Disease + + + Disorder + + + + 20301641[PMID] + + SET binding factor 2 + SBF2 + + DENND7B + KIAA1766 + MTMR13 + myotubularin related 13 + + + gene with protein product + + + + Reactome + Q86WG5 + + + ClinVar + SBF2 + + + Ensembl + ENSG00000133812 + + + Genatlas + SBF2 + + + HGNC + 2135 + + + OMIM + 607697 + + + SwissProt + Q86WG5 + + + + + 11p15.4 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99948 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99948 + Charcot-Marie-Tooth disease type 4A + + Disease + + + Disorder + + + + 20301711[PMID] + + ganglioside induced differentiation associated protein 1 + GDAP1 + + CMT2K + CMT4 + + + gene with protein product + + + + ClinVar + GDAP1 + + + Ensembl + ENSG00000104381 + + + Genatlas + GDAP1 + + + HGNC + 15968 + + + OMIM + 606598 + + + SwissProt + Q8TB36 + + + + + 8q21.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99947 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99947 + Autosomal dominant Charcot-Marie-Tooth disease type 2A2 + + Disease + + + Disorder + + + + 20301462[PMID] + + mitofusin 2 + MFN2 + + CMT2A2 + CPRP1 + KIAA0214 + MARF + + + gene with protein product + + + + Ensembl + ENSG00000116688 + + + Genatlas + MFN2 + + + HGNC + 16877 + + + OMIM + 608507 + + + Reactome + O95140 + + + SwissProt + O95140 + + + IUPHAR + 3131 + + + ClinVar + MFN2 + + + + + 1p36.22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99950 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99950 + Charcot-Marie-Tooth disease type 4D + + Disease + + + Disorder + + + + 10831399[PMID]_20301641[PMID] + + N-myc downstream regulated 1 + NDRG1 + + DRG1 + NDR1 + RTP + TDD5 + + + gene with protein product + + + + Reactome + Q92597 + + + ClinVar + NDRG1 + + + Ensembl + ENSG00000104419 + + + Genatlas 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ENSG00000139132 + + + Genatlas + FGD4 + + + HGNC + 19125 + + + OMIM + 611104 + + + Reactome + Q96M96 + + + SwissProt + Q96M96 + + + ClinVar + FGD4 + + + + + 12p11.21 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 99953 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99953 + Charcot-Marie-Tooth disease type 4G + + Disease + + + Disorder + + + + 19536174[PMID] + + hexokinase 1 + HK1 + + HKI + + + gene with protein product + + + + ClinVar + HK1 + + + Ensembl + ENSG00000156515 + + + Genatlas + HK1 + + + HGNC + 4922 + + + OMIM + 142600 + + + Reactome + P19367 + + + SwissProt + P19367 + + + + + 10q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99940 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99940 + Autosomal dominant Charcot-Marie-Tooth disease type 2F + + Disease + + + Disorder + + + + 20301462[PMID] + + heat shock protein family B (small) member 1 + HSPB1 + + CMT2F + HSP27 + HSP28 + Hs.76067 + Hsp25 + + + gene with protein product + + + + ClinVar + HSPB1 + + + Ensembl + ENSG00000106211 + + + Genatlas + HSPB1 + + + HGNC + 5246 + + + OMIM + 602195 + + + Reactome + P04792 + + + SwissProt + P04792 + + + + + 7q11.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99939 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99939 + Autosomal dominant Charcot-Marie-Tooth disease type 2E + + Disease + + + Disorder + + + + 20301462[PMID] + + neurofilament light chain + NEFL + + CMT1F + CMT2E + NF68 + NFL + PPP1R110 + protein phosphatase 1, regulatory subunit 110 + + + gene with protein product + + + + Ensembl + ENSG00000277586 + + + Genatlas + NEFL + + + HGNC + 7739 + + + OMIM + 162280 + + + Reactome + P07196 + + + SwissProt + P07196 + + + ClinVar + NEFL + + + + + 8p21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99942 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99942 + Autosomal dominant Charcot-Marie-Tooth disease type 2I + + Disease + + + Disorder + + + + 20301462[PMID] + + myelin protein zero + MPZ + + CMT2I + CMT2J + HMSNIB + P0 + + + gene with protein product + + + + ClinVar + MPZ + + + Ensembl + ENSG00000158887 + + + Genatlas + MPZ + + + HGNC + 7225 + + + OMIM + 159440 + + + SwissProt + P25189 + + + + + 1q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99944 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99944 + Autosomal dominant Charcot-Marie-Tooth disease type 2K + + Disease + + + Disorder + + + + 20301462[PMID] + + ganglioside induced differentiation associated protein 1 + GDAP1 + + CMT2K + CMT4 + + + gene with protein product + + + + ClinVar + GDAP1 + + + Ensembl + ENSG00000104381 + + + Genatlas + GDAP1 + + + HGNC + 15968 + + + OMIM + 606598 + + + SwissProt + Q8TB36 + + + + + 8q21.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99943 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99943 + Autosomal dominant Charcot-Marie-Tooth disease type 2J + + Disease + + + Disorder + + + + 20301462[PMID] + + myelin protein zero + MPZ + + CMT2I + CMT2J + HMSNIB + P0 + + + gene with protein product + + + + ClinVar + MPZ + + + Ensembl + ENSG00000158887 + + + Genatlas + MPZ + + + HGNC + 7225 + + + OMIM + 159440 + + + SwissProt + P25189 + + + + + 1q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99946 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99946 + Autosomal dominant Charcot-Marie-Tooth disease type 2A1 + + Disease + + + Disorder + + + + 11389829[PMID]_20301462[PMID] + + kinesin family member 1B + KIF1B + + HMSNII + KIAA0591 + KLP + Charcot-Marie-Tooth neuropathy type II + + + gene with protein product + + + + Reactome + O60333 + + + ClinVar + KIF1B + + + Ensembl + ENSG00000054523 + + + Genatlas + KIF1B + + + HGNC + 16636 + + + OMIM + 605995 + + + SwissProt + O60333 + + + + + 1p36.22 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 99945 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99945 + Autosomal dominant Charcot-Marie-Tooth disease type 2L + + Disease + + + Disorder + + + + 20301462[PMID] + + heat shock protein family B (small) member 8 + HSPB8 + + CMT2L + E2IG1 + H11 + HSP22 + HspB8 + + + gene with protein product + + + + ClinVar + HSPB8 + + + Ensembl + ENSG00000152137 + + + Genatlas + HSPB8 + + + HGNC + 30171 + + + OMIM + 608014 + + + Reactome + Q9UJY1 + + + SwissProt + Q9UJY1 + + + + + 12q24.23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99936 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99936 + Autosomal dominant Charcot-Marie-Tooth disease type 2B + + Disease + + + Disorder + + + + 20301462[PMID] + + RAB7A, member RAS oncogene family + RAB7A + + + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99938 + Autosomal dominant Charcot-Marie-Tooth disease type 2D + + Disease + + + Disorder + + + + 20301462[PMID] + + glycyl-tRNA synthetase 1 + GARS1 + + DSMAV + GlyRS + SMAD1 + glycine tRNA ligase + + + gene with protein product + + + + ClinVar + GARS + + + Ensembl + ENSG00000106105 + + + Genatlas + GARS + + + HGNC + 4162 + + + OMIM + 600287 + + + Reactome + P41250 + + + SwissProt + P41250 + + + + + 7p14.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 648562 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648562 + Ferroportin disease + + Disease + + + Disorder + + + + 34601591[PMID] + + solute carrier family 40 member 1 + SLC40A1 + + FPN1 + HFE4 + IREG1 + MTP1 + ferroportin 1 + FPN + iron regulated gene 1 + SLC40 iron transporter + + + gene with protein product + + + + Ensembl + ENSG00000138449 + + + Genatlas + SLC40A1 + + + HGNC + 10909 + + + OMIM + 604653 + + + Reactome + Q9NP59 + + + SwissProt + Q9NP59 + + + IUPHAR + 1194 + + + ClinVar + SLC40A1 + + + + + 2q32.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 648581 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648581 + Digenic hemochromatosis + + Disease + + + Disorder + + + + 34601591[PMID] + + homeostatic iron regulator + HFE + + HLA-H + high Fe + HFE1 + + + gene with protein product + + + + OMIM + 613609 + + + SwissProt + Q30201 + + + Ensembl + ENSG00000010704 + + + Genatlas + HFE + + + HGNC + 4886 + + + Reactome + Q30201 + + + ClinVar + HFE + + + + + 6p22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 35449524[PMID] + + hemojuvelin BMP co-receptor + HJV + + HFE2A + HJV + JH + RGMC + haemojuvelin + hemojuvelin + repulsive guidance molecule c + + + gene with protein product + + + + Ensembl + ENSG00000168509 + + + Genatlas + HFE2 + + + HGNC + 4887 + + + OMIM + 608374 + + + Reactome + Q6ZVN8 + + + SwissProt + Q6ZVN8 + + + ClinVar + HFE2 + + + + + 1q21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 35449524[PMID] + + hepcidin antimicrobial peptide + HAMP + + HEPC + HFE2B + LEAP-1 + LEAP1 + + + gene with protein product + + + + ClinVar + HAMP + + + Ensembl + ENSG00000105697 + + + Genatlas + HAMP + + + HGNC + 15598 + + + OMIM + 606464 + + + SwissProt + P81172 + + + + + 19q13.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26799139[PMID] + + transferrin receptor 2 + TFR2 + + HFE3 + TFRC2 + + + gene with protein product + + + + Reactome + Q9UP52 + + + ClinVar + TFR2 + + + Genatlas + TFR2 + + + HGNC + 11762 + + + OMIM + 604720 + + + SwissProt + Q9UP52 + + + Ensembl + ENSG00000106327 + + + + + 7q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99916 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99916 + Malignant Sertoli-Leydig cell tumor of the ovary + + Disease + + + Disorder + + + + 24761742[PMID]_21205968[PMID]_21882293[PMID] + + dicer 1, ribonuclease III + DICER1 + + Dicer + HERNA + K12H4.8-LIKE + KIAA0928 + dicer 1, double-stranded RNA-specific endoribonuclease + + + gene with protein product + + + + ClinVar + DICER1 + + + Ensembl + ENSG00000100697 + + + Genatlas + DICER1 + + + HGNC + 17098 + + + OMIM + 606241 + + + Reactome + Q9UPY3 + + + SwissProt + Q9UPY3 + + + + + 14q32.13 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 99915 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99915 + Malignant granulosa cell tumor of the ovary + + Disease + + + Disorder + + + + 19516027[PMID] + + forkhead box L2 + FOXL2 + + BPES1 + + + gene with protein product + + + + Ensembl + ENSG00000183770 + + + Genatlas + FOXL2 + + + HGNC + 1092 + + + ClinVar + FOXL2 + + + OMIM + 605597 + + + SwissProt + P58012 + + + Reactome + P58012 + + + + + 3q22.3 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 24761742[PMID]_21205968[PMID]_21882293[PMID] + + dicer 1, ribonuclease III + DICER1 + + Dicer + HERNA + K12H4.8-LIKE + KIAA0928 + dicer 1, double-stranded RNA-specific endoribonuclease + + + gene with protein product + + + + ClinVar + DICER1 + + + Ensembl + ENSG00000100697 + + + Genatlas + DICER1 + + + HGNC + 17098 + + + OMIM + 606241 + + + Reactome + Q9UPY3 + + + SwissProt + Q9UPY3 + + + + + 14q32.13 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 99914 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99914 + Gynandroblastoma + + Disease + + + Disorder + + + + 24761742[PMID]_21205968[PMID]_21882293[PMID] + + dicer 1, ribonuclease III + DICER1 + + Dicer + HERNA + K12H4.8-LIKE + KIAA0928 + dicer 1, double-stranded RNA-specific endoribonuclease + + + gene with protein product + + + + ClinVar + DICER1 + + + Ensembl + ENSG00000100697 + + + Genatlas + DICER1 + + + HGNC + 17098 + + + OMIM + 606241 + + + Reactome + Q9UPY3 + + + SwissProt + Q9UPY3 + + + + 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MGC14452 + NPD002 + + + gene with protein product + + + + ClinVar + ACAD9 + + + Ensembl + ENSG00000177646 + + + Genatlas + ACAD9 + + + HGNC + 21497 + + + OMIM + 611103 + + + Reactome + Q9H845 + + + SwissProt + Q9H845 + + + + + 3q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 647811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647811 + Cardiac-urogenital syndrome + + Disease + + + Disorder + + + + 36695166[PMID] + + myelin regulatory factor + MYRF + + pqn-47 + MRF + Ndt80 + myelin gene regulatory factor + + + gene with protein product + + + + Ensembl + ENSG00000124920 + + + OMIM + 608329 + + + HGNC + 1181 + + + Genatlas + MYRF + + + ClinVar + MYRF + + + SwissProt + Q9Y2G1 + + + + + 11q12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 647804 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647804 + Combined immunodeficiency due to FCHO1 deficiency + + Disease + + + Disorder + + + + 32098969[PMID] + + FCH and mu domain containing endocytic adaptor 1 + FCHO1 + + KIAA0290 + + + gene with protein product + + + + Ensembl + ENSG00000130475 + + + OMIM + 613437 + + + Reactome + O14526 + + + SwissProt + O14526 + + + HGNC + 29002 + + + + + 19p13.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 647834 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647834 + SLC40A1-related hemochromatosis + + Disease + + + Disorder + + + + 11431687[PMID]_34601591[PMID] + + solute carrier family 40 member 1 + SLC40A1 + + FPN1 + HFE4 + IREG1 + MTP1 + ferroportin 1 + FPN + iron regulated gene 1 + SLC40 iron transporter + + + gene with protein product + + + + Ensembl + ENSG00000138449 + + + Genatlas + SLC40A1 + + + HGNC + 10909 + + + OMIM + 604653 + + + Reactome + Q9NP59 + + + SwissProt + Q9NP59 + + + IUPHAR + 1194 + + + ClinVar + SLC40A1 + + + + + 2q32.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + 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germline mutation(s) in + + + Assessed + + + + + + 647681 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647681 + Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome + + Malformation syndrome + + + Disorder + + + + 36209295[PMID] + + ETS2 repressor factor + ERF + + PE-2 + PE2 + + + gene with protein product + + + + ClinVar + ERF + + + Ensembl + ENSG00000105722 + + + Genatlas + ERF + + + HGNC + 3444 + + + OMIM + 611888 + + + Reactome + P50548 + + + SwissProt + P50548 + + + + + 19q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 647799 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647799 + MYT1L-related developmental delay-intellectual disability-obesity syndrome + + Disease + + + Disorder + + + + 34748075[PMID] + + myelin transcription factor 1 like + MYT1L + + NZF1 + ZC2H2C2 + KIAA1106 + neural zinc finger transcription factor 1 + ZC2HC4B + + + gene with protein product 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Disease + + + Disorder + + + + 34020708[PMID]_29100085[PMID] + + DExH-box helicase 30 + DHX30 + + KIAA0890 + FLJ11214 + + + gene with protein product + + + + HGNC + 16716 + + + Ensembl + ENSG00000132153 + + + SwissProt + Q7L2E3 + + + Reactome + Q7L2E3 + + + OMIM + 616423 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 647782 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647782 + Isolated micronodular adrenocortical disease + + Disease + + + Disorder + + + + 35992106[PMID] + + phosphodiesterase 11A + PDE11A + + Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A + + + gene with protein product + + + + Ensembl + ENSG00000128655 + + + Genatlas + PDE11A + + + HGNC + 8773 + + + OMIM + 604961 + + + Reactome + Q9HCR9 + + + SwissProt + Q9HCR9 + + + IUPHAR + 1311 + + + ClinVar + PDE11A + + + + + 2q31.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 35992106[PMID] + + phosphodiesterase 8B + PDE8B + + High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B + + + gene with protein product + + + + ClinVar + PDE8B + + + Reactome + O95263 + + + SwissProt + O95263 + + + Ensembl + ENSG00000113231 + + + Genatlas + PDE8B + + + HGNC + 8794 + + + OMIM + 603390 + + + IUPHAR + 1308 + + + + + 5q13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99879 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99879 + Familial isolated hyperparathyroidism + + Disease + + + Disorder + + + + 27745835[PMID] + + glial cells missing transcription factor 2 + GCM2 + + hGCMb + + + gene with protein product + + + + ClinVar + GCM2 + + + HGNC + 4198 + + + OMIM + 603716 + + + SwissProt + O75603 + + + Ensembl + ENSG00000124827 + + + Genatlas + GCM2 + + + Reactome + O75603 + + + + + 6p24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301744[PMID]_15531515[PMID] + + cell division cycle 73 + CDC73 + + FIHP + Paf1/RNA polymerase II complex component + parafibromin + + + gene with protein product + + + + Ensembl + ENSG00000134371 + + + Genatlas + CDC73 + + + HGNC + 16783 + + + OMIM + 607393 + + + Reactome + Q6P1J9 + + + SwissProt + Q6P1J9 + + + ClinVar + CDC73 + + + + + 1q31.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 9792884[PMID]_10664521[PMID]_12699448[PMID] + + menin 1 + MEN1 + + menin + + + gene with protein product + + + + Ensembl + ENSG00000133895 + + + Genatlas + MEN1 + + + HGNC + 7010 + + + OMIM + 613733 + + + Reactome + O00255 + + + SwissProt + O00255 + + + ClinVar + MEN1 + + + + + 11q13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 656283 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656283 + Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency + + Disease + + + Disorder + + + + 35748970[PMID] + + interleukin 6 cytokine family signal transducer + IL6ST + + GP130 + CD130 + Interleukin-6 receptor subunit beta + gp130, oncostatin M receptor + sGP130 + membrane glycoprotein 130 + IL-6RB + + + gene with protein product + + + + HGNC + 6021 + + + SwissProt + P40189 + + + IUPHAR + 2317 + + + ClinVar + IL6ST + + + OMIM + 600694 + + + Ensembl + ENSG00000134352 + + + Genatlas + IL6ST + + + + + 5q11.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 656279 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656279 + 1p36.33 duplication syndrome + + Disease + + + Disorder + + + + 32004445[PMID] + + ATPase family AAA domain containing 3A + ATAD3A + + FLJ10709 + + + gene with protein product + + + + Genatlas + ATAD3A + + + Ensembl + ENSG00000197785 + + + ClinVar + ATAD3A + + + Reactome + Q9NVI7 + + + OMIM + 612316 + + + HGNC + 25567 + + + SwissProt + Q9NVI7 + + + + + 1p36.33 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 32004445[PMID] + + ATPase family AAA domain containing 3B + ATAD3B + + TOB3 + KIAA1273 + + + gene with protein product + + + + SwissProt + Q5T9A4 + + + Reactome + Q5T9A4 + + + OMIM + 612317 + + + HGNC + 24007 + + + Ensembl + ENSG00000160072 + + + + + 1p36.33 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 32004445[PMID] + + ATPase family AAA domain containing 3C + ATAD3C + + FLJ34599 + + + gene with protein product + + + + SwissProt + Q5T2N8 + + + HGNC + 32151 + + + Ensembl + ENSG00000215915 + + + OMIM + 617227 + + + + + 1p36.33 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 99880 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99880 + Hyperparathyroidism-jaw tumor syndrome + + Disease + + + Disorder + + + + 12434154[PMID] + + cell division cycle 73 + CDC73 + + FIHP + Paf1/RNA polymerase II complex component + parafibromin + + + gene with protein product + + + + Ensembl + ENSG00000134371 + + + Genatlas + CDC73 + + + HGNC + 16783 + + + OMIM + 607393 + + + Reactome + Q6P1J9 + + + SwissProt + Q6P1J9 + + + ClinVar + CDC73 + + + + + 1q31.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 656313 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656313 + Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency + + Disease + + + Disorder + + + + 35748970[PMID] + + interleukin 6 cytokine family signal transducer + IL6ST + + GP130 + CD130 + Interleukin-6 receptor subunit beta + gp130, oncostatin M receptor + sGP130 + membrane glycoprotein 130 + IL-6RB + + + gene with protein product + + + + HGNC + 6021 + + + SwissProt + P40189 + + + IUPHAR + 2317 + + + ClinVar + IL6ST + + + OMIM + 600694 + + + Ensembl + ENSG00000134352 + + + Genatlas + IL6ST + + + + + 5q11.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 656300 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656300 + Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency + + Disease + + + Disorder + + + + 34044328[PMID] + + interleukin 6 cytokine family signal transducer + IL6ST + + GP130 + CD130 + Interleukin-6 receptor subunit beta + gp130, oncostatin M receptor + sGP130 + membrane glycoprotein 130 + IL-6RB + + + gene with protein product + + + + HGNC + 6021 + + + SwissProt + P40189 + + + IUPHAR + 2317 + + + ClinVar + IL6ST + + + OMIM + 600694 + + + Ensembl + ENSG00000134352 + + + Genatlas + IL6ST + + + + + 5q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 656130 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656130 + PBX1-related congenital anomalies of kidney-urinary tract syndrome + + Disease + + + Disorder + + + + 28566479[PMID] + + PBX homeobox 1 + PBX1 + + + + gene with protein product + + + + ClinVar + PBX1 + + + Ensembl + ENSG00000185630 + + + Genatlas + PBX1 + + + HGNC + 8632 + + + OMIM + 176310 + + + Reactome + P40424 + + + SwissProt + P40424 + + + + + 1q23.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 656135 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656135 + Intellectual disability-cupped ears syndrome + + Disease + + + Disorder + + + + 31303265[PMID] + + POU class 3 homeobox 3 + POU3F3 + + BRN1 + OTF8 + + + gene with protein product + + + + SwissProt + P20264 + + + Ensembl + ENSG00000198914 + + + HGNC + 9216 + + + OMIM + 602480 + + + + + 2q12.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99887 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99887 + Acute megakaryoblastic leukemia in children with Down syndrome + + Clinical subtype + + + Subtype of disorder + + + + 14636651[PMID] + + GATA binding protein 1 + GATA1 + + ERYF1 + GATA-1 + NF-E1 + NFE1 + nuclear factor, erythroid 1 + + + gene with protein product + + + + ClinVar + GATA1 + + + Ensembl + ENSG00000102145 + + + Genatlas + GATA1 + + + HGNC + 4170 + + + OMIM + 305371 + + + Reactome + P15976 + + + SwissProt + P15976 + + + + + Xp11.23 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 656912 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656912 + Autosomal dominant combined immunodeficiency due to ERBIN deficiency + + Disease + + + Disorder + + + + 28126831[PMID] + + erbb2 interacting protein + ERBIN + + ERBB2-interacting protein + LAP2 + densin-180-like protein + + + gene with protein product + + + + Genatlas + ERBIN + + + Reactome + Q96RT1 + + + SwissProt + Q96RT1 + + + OMIM + 606944 + + + Ensembl + ENSG00000112851 + + + HGNC + 15842 + + + ClinVar + ERBIN + + + + + 5q12.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 656326 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656326 + Autosomal recessive combined immunodeficiency due to IL6R deficiency + + Disease + + + Disorder + + + + 31235509[PMID] + + interleukin 6 receptor + IL6R + + IL-1Ra + IL6RA + gp80 + IL-6R + membrane glycoprotein 80 + interleukin 6 receptor subunit alpha + CD126 + + + gene with protein product + + + + IUPHAR + 1708 + + + Ensembl + ENSG00000160712 + + + OMIM + 147880 + + + Reactome + P08887 + + + SwissProt + P08887 + + + HGNC + 6019 + + + + + 1q21.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99885 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99885 + Isolated permanent neonatal diabetes mellitus + + Disease + + + Disorder + + + + 28073828[PMID] + + signal transducer and activator of transcription 3 + STAT3 + + APRF + + + gene with protein product + + + + Ensembl + ENSG00000168610 + + + Genatlas + STAT3 + + + HGNC + 11364 + + + OMIM + 102582 + + + Reactome + P40763 + + + SwissProt + P40763 + + + IUPHAR + 2994 + + + ClinVar + STAT3 + + + + + 17q21.2 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + 21844708[PMID]_22498247[PMID]_20301620[PMID] + + glucokinase + GCK + + HK4 + hexokinase 4 + HKIV + + + gene with protein product + + + + ClinVar + GCK + + + Ensembl + ENSG00000106633 + + + Genatlas + GCK + + + HGNC + 4195 + + + OMIM + 138079 + + + Reactome + P35557 + + + SwissProt + P35557 + + + IUPHAR + 2798 + + + + + 7p13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21844708[PMID]_22498247[PMID]_20301620[PMID]_24150202[PMID]_24468099[PMID] + + potassium inwardly rectifying channel subfamily J member 11 + KCNJ11 + + ATP-sensitive inward rectifier potassium channel 11 + BIR + Kir6.2 + beta-cell inward rectifier + + + gene with protein product + + + + Ensembl + ENSG00000187486 + + + Genatlas + KCNJ11 + + + HGNC + 6257 + + + IUPHAR + 442 + + + OMIM + 600937 + + + Reactome + Q14654 + + + SwissProt + Q14654 + + + ClinVar + KCNJ11 + + + + + 11p15.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301620[PMID]_22498247[PMID] + + pancreatic and duodenal homeobox 1 + PDX1 + + IDX-1 + MODY4 + PDX-1 + STF-1 + somatostatin transcription factor 1 + Glucose-sensitive factor + insulin upstream factor 1 + IUF-1 + Islet/duodenum homeobox-1 + GSF + + + gene with protein product + + + + ClinVar + PDX1 + + + Ensembl + ENSG00000139515 + + + Genatlas + PDX1 + + + HGNC + 6107 + + + OMIM + 600733 + + + Reactome + P52945 + + + SwissProt + P52945 + + + + + 13q12.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21844708[PMID]_22498247[PMID]_20301620[PMID]_23245869[PMID]_23107109[PMID] + + insulin + INS + + + + gene with protein product + + + + ClinVar + INS + + + Ensembl + ENSG00000254647 + + + Genatlas + INS + + + HGNC + 6081 + + + OMIM + 176730 + + + Reactome + P01308 + + + SwissProt + P01308 + + + + + 11p15.5 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21844708[PMID]_22498247[PMID]_20301620[PMID] + + ATP binding cassette subfamily C member 8 + ABCC8 + + ABC36 + HHF1 + HI + MRP8 + PHHI + SUR1 + TNDM2 + sulfonylurea receptor (hyperinsulinemia) + + + gene with protein product + + + + ClinVar + ABCC8 + + + Ensembl + ENSG00000006071 + + + Genatlas + ABCC8 + + + HGNC + 59 + + + IUPHAR + 2594 + + + OMIM + 600509 + + + Reactome + Q09428 + + + SwissProt + Q09428 + + + + + 11p15.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99886 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99886 + Transient neonatal diabetes mellitus + + Disease + + + Disorder + + + + 21844708[PMID]_22498247[PMID]_21738553[PMID] + + ATP binding cassette subfamily C member 8 + ABCC8 + + ABC36 + HHF1 + HI + MRP8 + PHHI + SUR1 + TNDM2 + sulfonylurea receptor (hyperinsulinemia) + + + gene with protein product + + + + ClinVar + ABCC8 + + + Ensembl + ENSG00000006071 + + + Genatlas + ABCC8 + + + HGNC + 59 + + + IUPHAR + 2594 + + + OMIM + 600509 + + + Reactome + Q09428 + + + SwissProt + Q09428 + + + + + 11p15.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21844708[PMID]_22498247[PMID]_21352428[PMID] + + potassium inwardly rectifying channel subfamily J member 11 + KCNJ11 + + ATP-sensitive inward rectifier potassium channel 11 + BIR + Kir6.2 + beta-cell inward rectifier + + + gene with protein product + + + + Ensembl + ENSG00000187486 + + + Genatlas + KCNJ11 + + + HGNC + 6257 + + + IUPHAR + 442 + + + OMIM + 600937 + + + Reactome + Q14654 + + + SwissProt + Q14654 + + + ClinVar + KCNJ11 + + + + + 11p15.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301706[PMID]_21844708[PMID]_20803656[PMID] + + hydatidiform mole associated and imprinted + HYMAI + + NCRNA00020 + non-protein coding RNA 20 + + + Non-coding RNA + + + + Ensembl + ENSG00000283122 + + + Genatlas + HYMAI + + + HGNC + 5326 + + + OMIM + 606546 + + + ClinVar + HYMAI + + + + + 6q24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301706[PMID]_21844708[PMID]_20803656[PMID] + + PLAG1 like zinc finger 1 + PLAGL1 + + LOT1 + ZAC + + + gene with protein product + + + + Ensembl + ENSG00000118495 + + + Genatlas + PLAGL1 + + + HGNC + 9046 + + + OMIM + 603044 + + + SwissProt + Q9UM63 + + + ClinVar + PLAGL1 + + + Reactome + Q9UM63 + + + + + 6q24.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301706[PMID]_22498247[PMID]_23150280[PMID]_23499433[PMID] + + ZFP57 zinc finger protein + ZFP57 + + bA145L22 + bA145L22.2 + ZNF698 + + + gene with protein product + + + + HGNC + 18791 + + + OMIM + 612192 + + + SwissProt + Q9NU63 + + + Ensembl + ENSG00000204644 + + + Genatlas + ZFP57 + + + ClinVar + ZFP57 + + + + + 6p22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 653712 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653712 + CHD4-related neurodevelopmental disorder + + Disease + + + Disorder + + + + 37324594[PMID]_31388190[PMID]_ + + chromodomain helicase DNA binding protein 4 + CHD4 + + Mi2-BETA + Mi-2b + + + gene with protein product + + + + HGNC + 1919 + + + Reactome + Q14839 + + + OMIM + 603277 + + + Ensembl + ENSG00000111642 + + + SwissProt + Q14839 + + + ClinVar + CHD4 + + + Genatlas + CHD4 + + + + + 12p13.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 653722 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653722 + Digenic Alport syndrome + + Clinical subtype + + + Subtype of disorder + + + + 5675912[PMID]_34930753[PMID]_35547199[PMID] + + collagen type IV alpha 3 chain + COL4A3 + + tumstatin + + + gene with protein product + + + + ClinVar + COL4A3 + + + Ensembl + ENSG00000169031 + + + Genatlas + COL4A3 + + + HGNC + 2204 + + + OMIM + 120070 + + + Reactome + Q01955 + + + SwissProt + Q01955 + + + + + 2q36.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 5675912[PMID]_34930753[PMID]_35547199[PMID] + + collagen type IV alpha 4 chain + COL4A4 + + CA44 + collagen of basement membrane, alpha-4 chain + + + gene with protein product + + + + ClinVar + COL4A4 + + + Ensembl + ENSG00000081052 + + + Genatlas + COL4A4 + + + HGNC + 2206 + + + OMIM + 120131 + + + Reactome + P53420 + + + SwissProt + P53420 + + + + + 2q36.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 5675912[PMID]_34930753[PMID]_35547199[PMID] + + collagen type IV alpha 5 chain + COL4A5 + + + + gene with protein product + + + + ClinVar + COL4A5 + + + Ensembl + ENSG00000188153 + + + Genatlas + COL4A5 + + + HGNC + 2207 + + + OMIM + 303630 + + + Reactome + P29400 + + + SwissProt + P29400 + + + + + Xq22.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 653725 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653725 + Autosomal recessive limb-girdle muscular dystrophy, type 28 + + Disease + + + Disorder + + + + 36745799[PMID]_37167966[PMID] + + 3-hydroxy-3-methylglutaryl-CoA reductase + HMGCR + + hydroxymethylglutaryl-CoA reductase + 3-hydroxy-3-methylglutaryl CoA reductase (NADPH) + + + gene with protein product + + + + HGNC + 5006 + + + Ensembl + ENSG00000113161 + + + OMIM + 142910 + + + IUPHAR + 639 + + + SwissProt + P04035 + + + + + 5q13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 653728 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653728 + Congenital insensitivity to pain syndrome, Marsili type + + Disease + + + Disorder + + + + 29253101[PMID] + + zinc finger homeobox 2 + ZFHX2 + + KIAA1762 + KIAA1056 + ZFH-5 + + + gene with protein product + + + + Ensembl + ENSG00000136367 + + + SwissProt + Q9C0A1 + + + HGNC + 20152 + + + OMIM + 617828 + + + + + 14q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99861 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99861 + Precursor T-cell acute lymphoblastic leukemia + + Disease + + + Disorder + + + + 29279377[PMID] + + ABL proto-oncogene 1, non-receptor tyrosine kinase + ABL1 + + JTK7 + c-ABL + p150 + + + gene with protein product + + + + ClinVar + ABL1 + + + OMIM + 189980 + + + Reactome + P00519 + + + SwissProt + P00519 + + + Ensembl + ENSG00000097007 + + + Genatlas + ABL1 + + + HGNC + 76 + + + IUPHAR + 1923 + + + + + 9q34.12 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 29279377[PMID] + + SET nuclear proto-oncogene + SET + + Template-Activating Factor-I, chromatin remodelling factor + 2PP2A + IPP2A2 + PHAPII + protein phosphatase type 2A inhibitor + IGAAD + TAF-I + TAF-IBETA + Template-Activating Factor-I + chromatin remodelling factor + HLA-DR-associated protein II + inhibitor of granzyme A-activated DNase + + + gene with protein product + + + + HGNC + 10760 + + + Ensembl + ENSG00000119335 + + + SwissProt + Q01105 + + + OMIM + 600960 + + + Genatlas + SET + + + Reactome + Q01105 + + + ClinVar + SET + + + + + 9q34.11 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 29279377[PMID] + + nucleoporin 214 + NUP214 + + CAIN + CAN + CAN protein, putative oncogene + 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MLLT10 + + + + + 10p12.31 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 23673860[PMID] + + DEAD-box helicase 3 X-linked + DDX3X + + DBX + DDX14 + HLP2 + Helicase-like protein 2 + CAP-Rf + + + gene with protein product + + + + Ensembl + ENSG00000215301 + + + Genatlas + DDX3X + + + HGNC + 2745 + + + OMIM + 300160 + + + SwissProt + O00571 + + + Reactome + O00571 + + + ClinVar + DDX3X + + + + + Xp11.4 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + phosphatidylinositol binding clathrin assembly protein + PICALM + + CALM + CLTH + + + gene with protein product + + + + Ensembl + ENSG00000073921 + + + Genatlas + PICALM + + + HGNC + 15514 + + + OMIM + 603025 + + + Reactome + Q13492 + + + SwissProt + Q13492 + + + ClinVar + PICALM + + + + + 11q14.2 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 653709 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653709 + Cone rod dystrophy-short stature syndrome + + Disease + + + Disorder + + 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653767 + Jansen-de Vries syndrome + + Disease + + + Disorder + + + + 28343630[PMID]_7183572[PMID]_37385405[PMID] + + protein phosphatase, Mg2+/Mn2+ dependent 1D + PPM1D + + protein phosphatase 2C, delta isoform + wild-type p53-induced phosphatase 1 + PP2C-DELTA + Wip1 + + + gene with protein product + + + + IUPHAR + 3134 + + + Reactome + O15297 + + + SwissProt + O15297 + + + Ensembl + ENSG00000170836 + + + Genatlas + PPM1D + + + HGNC + 9277 + + + OMIM + 605100 + + + ClinVar + PPM1D + + + + + 17q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 653880 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653880 + Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency + + Disease + + + Disorder + + + + 26506407[PMID] + + enoyl-CoA hydratase, short chain 1 + ECHS1 + + SCEH + short chain enoyl-CoA hydratase + + + gene with protein product + + + + ClinVar + ECHS1 + + + Ensembl + ENSG00000127884 + + + Genatlas + ECHS1 + + + HGNC + 3151 + + + OMIM + 602292 + + + Reactome + P30084 + + + SwissProt + P30084 + + + + + 10q26.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99849 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99849 + Glycogen storage disease due to muscle beta-enolase deficiency + + Disease + + + Disorder + + + + 11506403[PMID] + + enolase 3 + ENO3 + + beta-enolase + muscle enriched enolase + + + gene with protein product + + + + Ensembl + ENSG00000108515 + + + Genatlas + ENO3 + + + HGNC + 3354 + + + OMIM + 131370 + + + Reactome + P13929 + + + SwissProt + P13929 + + + ClinVar + ENO3 + + + + + 17p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 652487 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652487 + Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome + + Malformation syndrome + + + Disorder + + + + 35567594[PMID]_37212523[PMID]_37272925[PMID] + + serine/arginine repetitive matrix 2 + SRRM2 + + SRm300 + SRL300 + KIAA0324 + Cwc21 + + + gene with protein product + + + + SwissProt + Q9UQ35 + + + OMIM + 606032 + + + Ensembl + ENSG00000167978 + + + HGNC + 16639 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99845 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99845 + Genetic recurrent myoglobinuria + + Disease + + + Disorder + + + + + + mitochondrially encoded cytochrome c oxidase I + MT-CO1 + + COI + COX1 + + + gene with protein product + + + + ClinVar + MT-CO1 + + + Ensembl + ENSG00000198804 + + + Genatlas + MT-CO1 + + + HGNC + 7419 + + + OMIM + 516030 + + + Reactome + P00395 + + + SwissProt + P00395 + + + + + mitochondria + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + mitochondrially encoded cytochrome c oxidase III + MT-CO3 + + CO3 + COIII + COX3 + + + gene with protein product + + 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gene with protein product + + + + Ensembl + ENSG00000149781 + + + Genatlas + FERMT3 + + + HGNC + 23151 + + + OMIM + 607901 + + + SwissProt + Q86UX7 + + + Reactome + Q86UX7 + + + ClinVar + FERMT3 + + + + + 11q13.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 99853 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99853 + Ovarioleukodystrophy + + Clinical subtype + + + Subtype of disorder + + + + 20301435[PMID]_15136673[PMID] + + eukaryotic translation initiation factor 2B subunit alpha + EIF2B1 + + EIF2Balpha + EIF-2B + EIF-2Balpha + EIF2BA + + + gene with protein product + + + + ClinVar + EIF2B1 + + + Ensembl + ENSG00000111361 + + + Genatlas + EIF2B1 + + + HGNC + 3257 + + + OMIM + 606686 + + + Reactome + Q14232 + + + SwissProt + Q14232 + + + + + 12q24.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301435[PMID]_15136673[PMID] + + eukaryotic translation initiation factor 2B subunit beta 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Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 652532 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652532 + Adult-onset progressive leukoencephalopathy-early-onset deafness + + Disease + + + Disorder + + + + 28887846[PMID]_30737337[PMID] + + lysyl-tRNA synthetase 1 + KARS1 + + KARS1 + KARS2 + lysine tRNA ligase + + + gene with protein product + + + + ClinVar + KARS + + + Ensembl + ENSG00000065427 + + + Genatlas + KARS + + + HGNC + 6215 + + + OMIM + 601421 + + + Reactome + Q15046 + + + SwissProt + Q15046 + + + + + 16q23.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99854 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99854 + Cree leukoencephalopathy + + Clinical subtype + + + Subtype of disorder + + + + 20301435[PMID]_15136673[PMID] + + eukaryotic translation initiation factor 2B subunit alpha + EIF2B1 + + EIF2Balpha + EIF-2B + EIF-2Balpha + EIF2BA + + + gene with protein 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99832 + Resistance to thyrotropin-releasing hormone syndrome + + Disease + + + Disorder + + + + 20537182[PMID]_22851492[PMID] + + thyrotropin releasing hormone receptor + TRHR + + + + gene with protein product + + + + Ensembl + ENSG00000174417 + + + Genatlas + TRHR + + + HGNC + 12299 + + + IUPHAR + 363 + + + OMIM + 188545 + + + Reactome + P34981 + + + SwissProt + P34981 + + + ClinVar + TRHR + + + + + 8q23.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 99842 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99842 + Leukocyte adhesion deficiency type I + + Clinical subtype + + + Subtype of disorder + + + + + + integrin subunit beta 2 + ITGB2 + + LFA-1 + MAC-1 + complement component 3 receptor 3 and 4 subunit + + + gene with protein product + + + + HGNC + 6155 + + + OMIM + 600065 + + + Reactome + P05107 + + + SwissProt + P05107 + + + ClinVar + ITGB2 + + + 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Genetic central precocious puberty in female + + Disease + + + Disorder + + + + 23738509[PMID] + + makorin ring finger protein 3 + MKRN3 + + MGC88288 + RNF63 + ZFP127 + zinc finger protein 127 + + + gene with protein product + + + + Ensembl + ENSG00000179455 + + + Genatlas + MKRN3 + + + HGNC + 7114 + + + OMIM + 603856 + + + SwissProt + Q13064 + + + ClinVar + MKRN3 + + + Reactome + Q13064 + + + + + 15q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 30733078[PMID] + + delta like non-canonical Notch ligand 1 + DLK1 + + Delta1 + FA1 + Pref-1 + ZOG + pG2 + + + gene with protein product + + + + ClinVar + DLK1 + + + Ensembl + ENSG00000185559 + + + Genatlas + DLK1 + + + HGNC + 2907 + + + OMIM + 176290 + + + Reactome + P80370 + + + SwissProt + P80370 + + + + + 14q32.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 32228714[PMID] + + KISS1 receptor + KISS1R + + AXOR12 + HOT7T175 + + + gene with protein product + + + + ClinVar + KISS1R + + + Ensembl + ENSG00000116014 + + + Genatlas + KISS1R + + + HGNC + 4510 + + + IUPHAR + 266 + + + OMIM + 604161 + + + Reactome + Q969F8 + + + SwissProt + Q969F8 + + + + + 19p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99811 + Neuronal intestinal pseudoobstruction + + Etiological subtype + + + Subtype of disorder + + + + 17357080[PMID] + + filamin A + FLNA + + ABP-280 + actin binding protein 280 + alpha filamin + + + gene with protein product + + + + Ensembl + ENSG00000196924 + + + Genatlas + FLNA + + + HGNC + 3754 + + + OMIM + 300017 + + + Reactome + P21333 + + + SwissProt + P21333 + + + ClinVar + FLNA + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 660012 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660012 + Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation + + Etiological subtype + + + Subtype of disorder + + + + 32366965[PMID] + + nuclear receptor subfamily 4 group A member 2 + NR4A2 + + TINUR + NOT + RNR1 + HZF-3 + + + gene with protein product + + + + HGNC + 7981 + + + Ensembl + ENSG00000153234 + + + SwissProt + P43354 + + + Reactome + P43354 + + + IUPHAR + 630 + + + OMIM + 601828 + + + + + 2q24.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99812 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99812 + LIG4 syndrome + + Disease + + + Disorder + + + + 27169690[PMID] + + X-ray repair cross complementing 4 + XRCC4 + + DNA repair protein XRCC4 + X-ray repair, complementing defective, repair in Chinese hamster + hXRCC4 + + + gene with protein product + + + + HGNC + 12831 + + + OMIM + 194363 + + + Genatlas + XRCC4 + + + SwissProt + Q13426 + + + Reactome + Q13426 + + + Ensembl + ENSG00000152422 + + + ClinVar + XRCC4 + + + + + 5q14.2 + 1 + + + + + Candidate gene tested in 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domains 3 + SHANK3 + + PSAP2 + SPANK-2 + proline rich synapse associated protein 2 + prosap2 + shank postsynaptic density protein + KIAA1650 + shank3 postsynaptic density protein + + + gene with protein product + + + + Reactome + Q9BYB0 + + + ClinVar + SHANK3 + + + Ensembl + ENSG00000251322 + + + Genatlas + SHANK3 + + + HGNC + 14294 + + + OMIM + 606230 + + + SwissProt + Q9BYB0 + + + + + 22q13.33 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 662179 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662179 + Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome + + Malformation syndrome + + + Disorder + + + + 32109420[PMID] + + speckle type BTB/POZ protein + SPOP + + BTBD32 + TEF2 + + + gene with protein product + + + + SwissProt + O43791 + + + HGNC + 11254 + + + Ensembl + ENSG00000121067 + + + OMIM + 602650 + + + ClinVar + SPOP + + + Genatlas + SPOP + + + + + 17q21.33 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 662175 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662175 + Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome + + Malformation syndrome + + + Disorder + + + + 32109420[PMID] + + speckle type BTB/POZ protein + SPOP + + BTBD32 + TEF2 + + + gene with protein product + + + + SwissProt + O43791 + + + HGNC + 11254 + + + Ensembl + ENSG00000121067 + + + OMIM + 602650 + + + ClinVar + SPOP + + + Genatlas + SPOP + + + + + 17q21.33 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 662189 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662189 + Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome + + Malformation syndrome + + + Disorder + + + + 31079900[PMID] + + heterogeneous nuclear ribonucleoprotein R + HNRNPR + + hnRNP-R + + + gene with protein product + + + + HGNC + 5047 + + + OMIM + 607201 + + + Ensembl + ENSG00000125944 + + + SwissProt + O43390 + + + + + 1p36.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 662184 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662184 + Congenital muscular dystrophy-cataract-intellectual disability syndrome + + Disease + + + Disorder + + + + 28190459[PMID]_28190456[PMID]_33792664[PMID] + + inositol polyphosphate-5-phosphatase K + INPP5K + + skeletal muscle and kidney enriched inositol phosphatase + SKIP + + + gene with protein product + + + + HGNC + 33882 + + + Ensembl + ENSG00000132376 + + + OMIM + 607875 + + + SwissProt + Q9BT40 + + + Genatlas + INPP5K + + + Reactome + R-HSA-1806175 + + + IUPHAR + 1458 + + + ClinVar + INPP5K + + + + + 17p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 662198 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662198 + Neurodevelopmental delay-intellectual disability-skeletal defects syndrome + + Malformation syndrome + + + Disorder + + + + 31670473[PMID]_33728377[PMID]_27545675[PMID] + + heterogeneous nuclear ribonucleoprotein H2 + HNRNPH2 + + hnRNPH' + FTP3 + HNRPH' + + + gene with protein product + + + + HGNC + 5042 + + + Ensembl + ENSG00000126945 + + + SwissProt + P55795 + + + Reactome + P55795 + + + OMIM + 300610 + + + + + Xq22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99796 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99796 + Subcortical band heterotopia + + Morphological anomaly + + + Disorder + + + + + + doublecortin + DCX + + doublecortex + DBCN + DC + LISX + SCLH + XLIS + + + gene with protein product + + + + Ensembl + ENSG00000077279 + + + Genatlas + DCX + + + HGNC + 2714 + + + OMIM + 300121 + + + Reactome + O43602 + + + SwissProt + O43602 + + + ClinVar + DCX + + + + + Xq23 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20301752[PMID] + + platelet activating factor acetylhydrolase 1b 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Ensembl + ENSG00000169884 + + + Genatlas + WNT10B + + + HGNC + 12775 + + + OMIM + 601906 + + + Reactome + O00744 + + + SwissProt + O00744 + + + + + 12q13.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99802 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99802 + Hemimegalencephaly + + Malformation syndrome + + + Disorder + + + + 22729223[PMID] + + phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha + PIK3CA + + PI3K + + + gene with protein product + + + + Reactome + P42336 + + + SwissProt + P42336 + + + Ensembl + ENSG00000121879 + + + Genatlas + PIK3CA + + + HGNC + 8975 + + + IUPHAR + 2153 + + + OMIM + 171834 + + + ClinVar + PIK3CA + + + + + 3q26.32 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 22500628[PMID] + + AKT serine/threonine kinase 3 + AKT3 + + PKBG + PRKBG + RAC-gamma + protein kinase B, gamma + + + gene with protein product + + + + Ensembl + ENSG00000117020 + + + Genatlas + AKT3 + + + HGNC + 393 + + + IUPHAR + 2286 + + + OMIM + 611223 + + + Reactome + Q9Y243 + + + SwissProt + Q9Y243 + + + ClinVar + AKT3 + + + + + 1q43-q44 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + 32140648[PMID] + + mechanistic target of rapamycin kinase + MTOR + + FK506 binding protein 12-rapamycin associated protein 2 + FKBP-rapamycin associated protein + FKBP12-rapamycin complex-associated protein 1 + FLJ44809 + RAFT1 + RAPT1 + dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1) + mammalian target of rapamycin + rapamycin and FKBP12 target 1 + rapamycin associated protein FRAP2 + rapamycin target protein + + + gene with protein product + + + + Ensembl + ENSG00000198793 + + + Genatlas + MTOR + + + HGNC + 3942 + + + IUPHAR + 2109 + + + OMIM + 601231 + + + Reactome + P42345 + + + SwissProt + P42345 + + + ClinVar + MTOR + + + + + 1p36.22 + 1 + + + + + Disease-causing somatic mutation(s) in + + + Assessed + + + + + + 659873 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659873 + Wormian bones-micrognathia-abnormal dentition-progeroid syndrome + + Malformation syndrome + + + Disorder + + + + 37867468[PMID]_30905398[PMID] + + LEM domain nuclear envelope protein 2 + LEMD2 + + dJ482C21.1 + NET25 + LEM2 + lamina-associated polypeptide-emerin-MAN1 domain containing 2 + + + gene with protein product + + + + HGNC + 21244 + + + OMIM + 616312 + + + Genatlas + LEMD2 + + + SwissProt + Q8NC56 + + + Reactome + Q8NC56 + + + Ensembl + ENSG00000161904 + + + ClinVar + LEMD2 + + + + + 6p21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99803 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99803 + Haddad syndrome + + Malformation syndrome + + + Disorder + + + + + + paired like homeobox 2B + PHOX2B + + NBPhox + Phox2b + + + gene with protein product + + + + ClinVar + PHOX2B + + + Genatlas + PHOX2B + + + HGNC + 9143 + + + OMIM + 603851 + + + SwissProt + Q99453 + + + Ensembl + ENSG00000109132 + + + + + 4p13 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 9565426[PMID] + + ret proto-oncogene + RET + + CDHF12 + CDHR16 + PTC + RET receptor tyrosine kinase + RET51 + cadherin-related family member 16 + rearranged during transfection + + + gene with protein product + + + + ClinVar + RET + + + Ensembl + ENSG00000165731 + + + Genatlas + RET + + + HGNC + 9967 + + + IUPHAR + 2185 + + + OMIM + 164761 + + + SwissProt + P07949 + + + Reactome + P07949 + + + + + 10q11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + achaete-scute family bHLH transcription factor 1 + ASCL1 + + ASH1 + HASH1 + bHLHa46 + + + gene with protein product + + + + Ensembl + ENSG00000139352 + + + Genatlas + ASCL1 + + + HGNC + 738 + + + OMIM + 100790 + + + SwissProt + P50553 + + + ClinVar + ASCL1 + + + Reactome + P50553 + + + + + 12q23.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99806 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99806 + Oculootodental syndrome + + Malformation syndrome + + + Disorder + + + + 17656375[PMID] + + fibroblast growth factor 3 + FGF3 + + HBGF-3 + INT-2 proto-oncogene protein + V-INT2 murine mammary tumor virus integration site oncogene homolog + murine mammary tumor virus integration site 2, mouse + oncogene INT2 + + + gene with protein product + + + + ClinVar + FGF3 + + + Ensembl + ENSG00000186895 + + + Genatlas + FGF3 + + + HGNC + 3681 + + + OMIM + 164950 + + + Reactome + P11487 + + + SwissProt + P11487 + + + + + 11q13.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + 17656375[PMID] + + Fas associated via death domain + FADD + + Fas-associating death domain-containing protein + Fas-associating protein with death domain + GIG3 + Growth-inhibiting gene 3 protein + MORT1 + Mediator of receptor-induced toxicity + growth-inhibiting gene 3 protein + mediator of receptor-induced toxicity + + + gene with protein product + + + + Ensembl + ENSG00000168040 + + + Genatlas + FADD + + + HGNC + 3573 + + + OMIM + 602457 + + + Reactome + Q13158 + + + SwissProt + Q13158 + + + ClinVar + FADD + + + + + 11q13.3 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 659904 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659904 + Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome + + Malformation syndrome + + + Disorder + + + + 33824499[PMID] + + proline rich 12 + PRR12 + + + + gene with protein product + + + + HGNC + 29217 + + + OMIM + 616633 + + + Ensembl + ENSG00000126464 + + + SwissProt + Q9ULL5 + + + + + 19q13.33 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 99807 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99807 + PEHO-like syndrome + + Disease + + + Disorder + + + + 26917597[PMID] + + coiled-coil and HOOK domain protein 88A + CCDC88A + + Akt-phosphorylation enhancer + APE + FLJ10392 + Galpha-interacting vesicle-associated protein + girders of actin filaments + girdin + GIV + GRDN + HkRP1 + + + gene with protein product + + + + ClinVar + CCDC88A + + + SwissProt + Q3V6T2 + + + HGNC + 25523 + + + OMIM + 609736 + + + Genatlas + CCDC88A + + + Ensembl + ENSG00000115355 + + + + + 2p16.1 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 99810 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99810 + Familial porencephaly + + Etiological subtype + + + Subtype of disorder + + + + + + collagen type IV alpha 1 chain + COL4A1 + + + + gene with protein product + + + + ClinVar + COL4A1 + + + Ensembl + ENSG00000187498 + + + Genatlas + COL4A1 + + + HGNC + 2202 + + + OMIM + 120130 + + + Reactome + P02462 + + + SwissProt + P02462 + + + + + 13q34 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + collagen type IV alpha 2 chain + COL4A2 + + Canstatin + Collagen type IV alpha 2 + DKFZp686I14213 + FLJ22259 + canstatin + + + gene with protein product + + + + Ensembl + ENSG00000134871 + + + Genatlas + COL4A2 + + + HGNC + 2203 + + + OMIM + 120090 + + + Reactome + P08572 + + + SwissProt + P08572 + + + ClinVar + COL4A2 + + + + + 13q34 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 30412317[PMID]_33709034[PMID] + + collagen beta(1-O)galactosyltransferase 1 + COLGALT1 + + Hydroxylysine galactosyltransferase + FLJ22329 + Procollagen galactosyltransferase + + + gene with protein product + + + + Reactome + Q8NBJ5 + + + HGNC + 26182 + + + OMIM + 617531 + + + Ensembl + ENSG00000130309 + + + SwissProt + Q8NBJ5 + + + + + 19p13.11 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 659975 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659975 + Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome + + Malformation syndrome + + + Disorder + + + + 34626583[PMID] + + AAA ATPase AFG2B + AFG2B + + MGC5347 + FLJ12286 + + + gene with protein product + + + + HGNC + 28762 + + + Ensembl + ENSG00000171763 + + + OMIM + 619578 + + + SwissProt + Q9BVQ7 + + + + + 15q21.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 659396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659396 + Cohen-Gibson syndrome + + Malformation syndrome + + + Disorder + + + + 30793471[PMID] + + embryonic ectoderm development + EED + + HEED + WAIT-1 + WD protein associating with integrin cytoplasmic tails 1 + + + gene with protein product + + + + ClinVar + EED + + + IUPHAR + 2487 + + + HGNC + 3188 + + + Ensembl + ENSG00000074266 + + + OMIM + 605984 + + + SwissProt + O75530 + + + Genatlas + EED + + + Reactome + R-HSA-212278 + + + + + 11q14.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 658951 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658951 + Early-onset immune dysregulation due to DOCK11 complete deficiency + + Disease + + + Disorder + + + + 37342957[PMID] + + dedicator of cytokinesis 11 + DOCK11 + + ACG + ZIZ2 + FLJ43653 + FLJ32122 + zizimin2 + + + gene with protein product + + + + Ensembl + ENSG00000147251 + + + OMIM + 300681 + + + Reactome + Q5JSL3 + + + SwissProt + Q5JSL3 + + + HGNC + 23483 + + + + + Xq24 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 659609 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659609 + Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome + + Malformation syndrome + + + Disorder + + + + 35851598[PMID] + + Rac family small GTPase 3 + RAC3 + + + + gene with protein product + + + + OMIM + 602050 + + + SwissProt + P60763 + + + HGNC + 9803 + + + Ensembl + ENSG00000169750 + + + + + 17q25.3 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 659463 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659463 + Imagawa-Matsumoto syndrome + + Malformation syndrome + + + Disorder + + + + 30019515[PMID] + + SUZ12 polycomb repressive complex 2 subunit + SUZ12 + + JJAZ1 + KIAA0160 + CHET9 + + + gene with protein product + + + + ClinVar + SUZ12 + + + Ensembl + ENSG00000178691 + + + Genatlas + SUZ12 + + + HGNC + 17101 + + + OMIM + 606245 + + + Reactome + Q15022 + + + SwissProt + Q15022 + + + + + 17q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 659672 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659672 + Harderoporphyria + + Disease + + + Disorder + + + + 30828546[PMID] + + coproporphyrinogen oxidase + CPOX + + CPX + HCP + coproporphyria + homozygous coproporphyria + + + gene with protein product + + + + Ensembl + ENSG00000080819 + + + Genatlas + CPOX + + + HGNC + 2321 + + + OMIM + 612732 + + + Reactome + P36551 + + + SwissProt + P36551 + + + ClinVar + CPOX + + + + + 3q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99789 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99789 + Dentin dysplasia type I + + Clinical subtype + + + Subtype of disorder + + + + 27680507[PMID] + + ssu-2 homolog + SSUH2 + + fls485 + ssu-2 + + + gene with protein product + + + + HGNC + 24809 + + + Ensembl + ENSG00000125046 + + + SwissProt + Q9Y2M2 + + + OMIM + 617479 + + + + + 3p25.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + dentin sialophosphoprotein + DSPP + + DMP3 + + + gene with protein product + + + + ClinVar + DSPP + + + HGNC + 3054 + + + OMIM + 125485 + + + Reactome + Q9NZW4 + + + SwissProt + Q9NZW4 + + + Ensembl + ENSG00000152591 + + + Genatlas + DSPP + + + + + 4q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 27247351[PMID] + + vacuolar protein sorting 4 homolog B + VPS4B + + SKD1B + VPS4-2 + + + gene with protein product + + + + ClinVar + VPS4B + + + HGNC + 10895 + + + OMIM + 609983 + + + Genatlas + VPS4B + + + SwissProt + O75351 + + + Reactome + O75351 + + + Ensembl + ENSG00000119541 + + + + + 18q21.33 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 659702 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659702 + Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome + + Malformation syndrome + + + Disorder + + + + 35300924[PMID] + + archain 1 coat protein complex I subunit delta + ARCN1 + + COPI coat complex subunit delta + delta-COP + + + gene with protein product + + + + HGNC + 649 + + + ClinVar + ARCN1 + + + OMIM + 600820 + + + Ensembl + ENSG00000095139 + + + Genatlas + ARCN1 + + + SwissProt + P48444 + + + Reactome + P48444 + + + + + 11q23.3 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 99791 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99791 + Dentin dysplasia type II + + Clinical subtype + + + Subtype of disorder + + + + + + dentin sialophosphoprotein + DSPP + + DMP3 + + + gene with protein product + + + + ClinVar + DSPP + + + HGNC + 3054 + + + OMIM + 125485 + + + Reactome + Q9NZW4 + + + SwissProt + Q9NZW4 + + + Ensembl + ENSG00000152591 + + + Genatlas + DSPP + + + + + 4q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 658778 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658778 + COQ7-related distal hereditary motor neuropathy + + Disease + + + Disorder + + + + 37077559[PMID] + + coenzyme Q7, hydroxylase + COQ7 + + CAT5 + CLK-1 + 5-demethoxyubiquinone hydroxylase + + + gene with protein product + + + + OMIM + 601683 + + + Ensembl + ENSG00000167186 + + + SwissProt + Q99807 + + + HGNC + 2244 + + + Genatlas + COQ7 + + + Reactome + Q99807 + + + ClinVar + COQ7 + + + + + 16p12.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 658595 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658595 + DNMT3A-related microcephalic dwarfism + + Malformation syndrome + + + Disorder + + + + 37517811[PMID] + + DNA methyltransferase 3 alpha + DNMT3A + + + + gene with protein product + + + + ClinVar + DNMT3A + + + Ensembl + ENSG00000119772 + + + Genatlas + DNMT3A + + + HGNC + 2978 + + + IUPHAR + 2750 + + + OMIM + 602769 + + + Reactome + Q9Y6K1 + + + SwissProt + Q9Y6K1 + + + + + 2p23.3 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 658813 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658813 + Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency + + Disease + + + Disorder + + + + 21813566[PMID] + + methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 + MTHFD1 + + + + gene with protein product + + + + Ensembl + ENSG00000100714 + + + Genatlas + MTHFD1 + + + HGNC + 7432 + + + OMIM + 172460 + + + Reactome + P11586 + + + SwissProt + P11586 + + + ClinVar + MTHFD1 + + + + + 14q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 658843 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658843 + Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome + + Malformation syndrome + + + Disorder + + + + 28017373[PMID] + + EBF transcription factor 3 + EBF3 + + COE3 + DKFZp667B0210 + Transcription factor COE3 + + + gene with protein product + + + + HGNC + 19087 + + + Ensembl + ENSG00000108001 + + + SwissProt + Q9H4W6 + + + OMIM + 607407 + + + Genatlas + EBF3 + + + ClinVar + EBF3 + + + + + 10q26.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 99772 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99772 + Cleft velum + + Morphological anomaly + + + Disorder + + + + 27018472[PMID]_27018475[PMID] + + grainyhead like transcription factor 3 + GRHL3 + + SOM + sister-of-mammalian grainyhead + + + gene with protein product + + + + Reactome + Q8TE85 + + + Ensembl + ENSG00000158055 + + + Genatlas + GRHL3 + + + HGNC + 25839 + + + OMIM + 608317 + + + SwissProt + Q8TE85 + + + ClinVar + GRHL3 + + + + + 1p36.11 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + 17468296[PMID] + + ubiquitin B + UBB + + FLJ25987 + MGC8385 + polyubiquitin B + + + gene with protein product + + + + OMIM + 191339 + + + Ensembl + ENSG00000170315 + + + HGNC + 12463 + + + Genatlas + UBB + + + SwissProt + P0CG47 + + + Reactome + P0CG47 + + + ClinVar + UBB + + + + + 17p11.2 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + + + 99771 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99771 + Bifid uvula + + Morphological anomaly + + + Disorder + + + + 17468296[PMID] + + ubiquitin B + UBB + + FLJ25987 + MGC8385 + polyubiquitin B + + + gene with protein product + + + + OMIM + 191339 + + + Ensembl + ENSG00000170315 + + + HGNC + 12463 + + + Genatlas + UBB + + + SwissProt + P0CG47 + + + Reactome + P0CG47 + + + ClinVar + UBB + + + + + 17p11.2 + 1 + + + + + Candidate gene tested in + + + Not yet assessed + + + + 27018472[PMID]_27018475[PMID] + + grainyhead like transcription factor 3 + GRHL3 + + SOM + sister-of-mammalian grainyhead + + + gene with protein product + + + + Reactome + Q8TE85 + + + Ensembl + ENSG00000158055 + + + Genatlas + GRHL3 + + + HGNC + 25839 + + + OMIM + 608317 + + + SwissProt + Q8TE85 + + + ClinVar + GRHL3 + + + + + 1p36.11 + 1 + + + + + Major susceptibility factor in + + + Assessed + + + + + + 658946 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658946 + Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency + + Disease + + + Disorder + + + + 36952639[PMID] + + dedicator of cytokinesis 11 + DOCK11 + + ACG + ZIZ2 + FLJ43653 + FLJ32122 + zizimin2 + + + gene with protein product + + + + Ensembl + ENSG00000147251 + + + OMIM + 300681 + + + Reactome + Q5JSL3 + + + SwissProt + Q5JSL3 + + + HGNC + 23483 + + + + + Xq24 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 631073 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631073 + Autosomal recessive spastic paraplegia type 82 + + Disease + + + Disorder + + + + 31637422[PMID] + + phosphate cytidylyltransferase 2, ethanolamine + PCYT2 + + CTP:phosphoethanolamine cytidylyltransferase + phosphorylethanolamine transferase + ET + ethanolamine-phosphate cytidylyltransferase: + + + gene with protein product + + + + HGNC + 8756 + + + OMIM + 602679 + + + Ensembl + ENSG00000185813 + + + SwissProt + Q99447 + + + + + 17q25.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 631076 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631076 + Autosomal recessive spastic paraplegia type 83 + + Disease + + + Disorder + + + + 33188300[PMID] + + 4-hydroxyphenylpyruvate dioxygenase like + HPDL + + MGC15668 + 4-HPPD-L + + + gene with protein product + + + + HGNC + 28242 + + + Ensembl + ENSG00000186603 + + + OMIM + 618994 + + + SwissProt + Q96IR7 + + + + + 1p34.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 631079 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631079 + Autosomal recessive spastic paraplegia type 84 + + Disease + + + Disorder + + + + 34415322[PMID] + + phosphatidylinositol 4-kinase alpha + PI4KA + + phosphatidylinositol 4-kinase III alpha + PI4K-ALPHA + pi4K230 + phosphatidylinositol 4-kinase IIIa + + + gene with protein product + + + + Ensembl + ENSG00000241973 + + + Genatlas + PI4KA + + + HGNC + 8983 + + + IUPHAR + 2148 + + + OMIM + 600286 + + + Reactome + P42356 + + + SwissProt + P42356 + + + ClinVar + PI4KA + + + + + 22q11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 631082 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631082 + Autosomal recessive spastic paraplegia type 85 + + Disease + + + Disorder + + + + 31636353[PMID] + + ring finger protein 170 + RNF170 + + ADSA + DKFZP564A022 + + + gene with protein product + + + + SwissProt + Q96K19 + + + Ensembl + ENSG00000120925 + + + ClinVar + RNF170 + + + HGNC + 25358 + + + OMIM + 614649 + + + Genatlas + RNF170 + + + + + 8p11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 631068 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631068 + Autosomal dominant spastic paraplegia type 80 + + Disease + + + Disorder + + + + 30929741[PMID] + + ubiquitin associated protein 1 + UBAP1 + + + + gene with protein product + + + + HGNC + 12461 + + + Ensembl + ENSG00000165006 + + + OMIM + 609787 + + + SwissProt + Q9NZ09 + + + + + 9p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 631106 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631106 + Spinocerebellar ataxia type 49 + + Disease + + + Disorder + + + + 35310830[PMID] + + sterile alpha motif domain containing 9 like + SAMD9L + + FLJ39885 + KIAA2005 + + + gene with protein product + + + + HGNC + 1349 + + + OMIM + 611170 + + + Genatlas + SAMD9L + + + ClinVar + SAMD9L + + + SwissProt + Q8IVG5 + + + Ensembl + ENSG00000177409 + + + + + 7q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 631103 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631103 + Spinocerebellar ataxia type 48 + + Disease + + + Disorder + + + + 30381368[PMID] + + STIP1 homology and U-box containing protein 1 + STUB1 + + CHIP + HSPABP2 + NY-CO-7 + SDCCAG7 + UBOX1 + + + gene with protein product + + + + IUPHAR + 3202 + + + Ensembl + ENSG00000103266 + + + Genatlas + STUB1 + + + HGNC + 11427 + + + OMIM + 607207 + + + Reactome + Q9UNE7 + + + SwissProt + Q9UNE7 + + + ClinVar + STUB1 + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 631095 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631095 + Spinocerebellar ataxia type 44 + + Disease + + + Disorder + + + + 28886343[PMID] + + glutamate metabotropic receptor 1 + GRM1 + + GPRC1A + MGLUR1 + PPP1R85 + mGlu1 + protein phosphatase 1, regulatory subunit 85 + + + gene with protein product + + + + Ensembl + ENSG00000152822 + + + Genatlas + GRM1 + + + HGNC + 4593 + + + IUPHAR + 289 + + + OMIM + 604473 + + + Reactome + Q13255 + + + SwissProt + Q13255 + + + ClinVar + GRM1 + + + + + 6q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 631088 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631088 + Autosomal recessive spastic paraplegia type 87 + + Disease + + + Disorder + + + + 35718349[PMID] + + transmembrane protein 63C + TMEM63C + + CSC1 + DKFZp434P0111 + calcium permeable stress-gated cation channel 1 homolog (Arabidopsis) + hsCSC1 + + + gene with protein product + + + + Ensembl + ENSG00000165548 + + + OMIM + 619953 + + + SwissProt + Q9P1W3 + + + HGNC + 23787 + + + + + 14q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 631085 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631085 + Autosomal recessive spastic paraplegia type 86 + + Disease + + + Disorder + + + + 34489854[PMID] + + abhydrolase domain containing 16A, phospholipase + ABHD16A + + Phosphatidylserine lipase ABHD16A + NG26 + D6S82E + + + gene with protein product + + + + Ensembl + ENSG00000204427 + + + HGNC + 13921 + + + OMIM + 142620 + + + SwissProt + O95870 + + + + + 6p21.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 631248 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631248 + Mitchell Syndrome + + Disease + + + Disorder + + + + 32169171[PMID] + + acyl-CoA oxidase 1 + ACOX1 + + PALMCOX + palmitoyl-CoA oxidase + + + gene 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636970 + Autosomal recessive myosin storage myopathy + + Clinical subtype + + + Subtype of disorder + + + + 17372140[PMID] + + myosin heavy chain 7 + MYH7 + + CMD1S + + + gene with protein product + + + + ClinVar + MYH7 + + + OMIM + 160760 + + + Reactome + P12883 + + + SwissProt + P12883 + + + Ensembl + ENSG00000092054 + + + Genatlas + MYH7 + + + HGNC + 7577 + + + + + 14q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 636965 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636965 + Autosomal dominant myosin storage myopathy + + Clinical subtype + + + Subtype of disorder + + + + 21288719[PMID] + + myosin heavy chain 7 + MYH7 + + CMD1S + + + gene with protein product + + + + ClinVar + MYH7 + + + OMIM + 160760 + + + Reactome + P12883 + + + SwissProt + P12883 + + + Ensembl + ENSG00000092054 + + + Genatlas + MYH7 + + + HGNC + 7577 + + + + + 14q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 637013 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637013 + SMARCA2-related blepharophimosis-intellectual disability syndrome + + Malformation syndrome + + + Disorder + + + + 32694869[PMID] + + SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 + SMARCA2 + + brahma homolog + BAF190 + BRM + SNF2 + SNF2LA + SWI2 + Sth1p + hBRM + hSNF2a + + + gene with protein product + + + + Ensembl + ENSG00000080503 + + + Genatlas + SMARCA2 + + + HGNC + 11098 + + + IUPHAR + 2739 + + + OMIM + 600014 + + + Reactome + P51531 + + + SwissProt + P51531 + + + ClinVar + SMARCA2 + + + + + 9p24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 636941 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636941 + Vascular Ehlers-Danlos-polymicrogyria syndrome + + Disease + + + Disorder + + + + 28742248[PMID] + + collagen type III alpha 1 chain + COL3A1 + + + + gene with protein product + + 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transcription factor 1 + kappa-E2-binding factor + transcription factor E2-alpha + p75 + + + gene with protein product + + + + Ensembl + ENSG00000071564 + + + Genatlas + TCF3 + + + HGNC + 11633 + + + OMIM + 147141 + + + Reactome + P15923 + + + SwissProt + P15923 + + + ClinVar + TCF3 + + + + + 19p13.3 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 641368 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641368 + Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency + + Disease + + + Disorder + + + + 30264496[PMID] + + zinc finger protein 341 + ZNF341 + + dJ553F4.3 + + + gene with protein product + + + + HGNC + 15992 + + + Ensembl + ENSG00000131061 + + + SwissProt + Q9BYN7 + + + Reactome + Q9BYN7 + + + OMIM + 618269 + + + + + 20q11.22 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 641372 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641372 + B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) + + Etiological subtype + + + Subtype of disorder + + + + 21962897[PMID]_22578776[PMID]_17179230[PMID] + + paired box 5 + PAX5 + + B-cell lineage specific activator + BSAP + PAX-5 + + + gene with protein product + + + + Ensembl + ENSG00000196092 + + + Genatlas + PAX5 + + + HGNC + 8619 + + + OMIM + 167414 + + + SwissProt + Q02548 + + + ClinVar + PAX5 + + + Reactome + Q02548 + + + + + 9p13.2 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + 22578776[PMID] + + activator of transcription and developmental regulator AUTS2 + AUTS2 + + FBRSL2 + KIAA0442 + + + gene with protein product + + + + ClinVar + AUTS2 + + + Ensembl + ENSG00000158321 + + + Genatlas + AUTS2 + + + HGNC + 14262 + + + OMIM + 607270 + + + SwissProt + Q8WXX7 + + + Reactome + Q8WXX7 + + + + + 7q11.22 + 1 + + + + + Part of a fusion gene in + + + Assessed + + + + + + 641353 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641353 + Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome + + Disease + + + Disorder + + + + 33188300[PMID] + + 4-hydroxyphenylpyruvate dioxygenase like + HPDL + + MGC15668 + 4-HPPD-L + + + gene with protein product + + + + HGNC + 28242 + + + Ensembl + ENSG00000186603 + + + OMIM + 618994 + + + SwissProt + Q96IR7 + + + + + 1p34.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 641361 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641361 + Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome + + Disease + + + Disorder + + + + 30950035[PMID]_32504085[PMID] + + exosome component 5 + EXOSC5 + + RRP41B + exosome component Rrp46 + p12B + MGC12901 + hRrp46p + RRP46 + Rrp46p + + + gene with protein product + + + + Ensembl + ENSG00000077348 + + + HGNC + 24662 + + + OMIM + 606492 + + + SwissProt + Q9NQT4 + + + + + 19q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 642976 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642976 + Perrault syndrome type 2 + + Clinical subtype + + + Subtype of disorder + + + + 34715011[PMID] + + protein only RNase P catalytic subunit + PRORP + + mitochondrial RNase P subunit 3 + MRPP3 + proteinaceous RNase P + Mitochondrial ribonuclease P catalytic subunit + + + gene with protein product + + + + Ensembl + ENSG00000100890 + + + OMIM + 609947 + + + SwissProt + O15091 + + + HGNC + 19958 + + + + + 14q13.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 23541340[PMID] + + caseinolytic mitochondrial matrix peptidase proteolytic subunit + CLPP + + ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human + + + gene with protein product + + + + IUPHAR + 3273 + + + ClinVar + CLPP + + + Ensembl + ENSG00000125656 + + + Genatlas + CLPP + + + HGNC + 2084 + + + OMIM + 601119 + + + SwissProt + Q16740 + + + + + 19p13.3 + 1 + + + + + Disease-causing germline 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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642954 + Autosomal recessive ataxia due to PEX16 deficiency + + Disease + + + Disorder + + + + 26644994[PMID] + + peroxisomal biogenesis factor 16 + PEX16 + + + + gene with protein product + + + + Ensembl + ENSG00000121680 + + + Genatlas + PEX16 + + + HGNC + 8857 + + + OMIM + 603360 + + + SwissProt + Q9Y5Y5 + + + ClinVar + PEX16 + + + Reactome + Q9Y5Y5 + + + + + 11p11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 642945 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642945 + Perrault syndrome type 1 + + Clinical subtype + + + Subtype of disorder + + + + 34715011[PMID] + + protein only RNase P catalytic subunit + PRORP + + mitochondrial RNase P subunit 3 + MRPP3 + proteinaceous RNase P + Mitochondrial ribonuclease P catalytic subunit + + + gene with protein product + + + + Ensembl + ENSG00000100890 + + + OMIM + 609947 + + + SwissProt + O15091 + + + HGNC + 19958 + + + + + 14q13.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + 26970254[PMID] + + caseinolytic mitochondrial matrix peptidase proteolytic subunit + CLPP + + ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human + + + gene with protein product + + + + IUPHAR + 3273 + + + ClinVar + CLPP + + + Ensembl + ENSG00000125656 + + + Genatlas + CLPP + + + HGNC + 2084 + + + OMIM + 601119 + + + SwissProt + Q16740 + + + + + 19p13.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 26970254[PMID] + + Era like 12S mitochondrial rRNA chaperone 1 + ERAL1 + + HERA-B + + + gene with protein product + + + + ClinVar + ERAL1 + + + HGNC + 3424 + + + Ensembl + ENSG00000132591 + + + SwissProt + O75616 + + + OMIM + 607435 + + + Genatlas + ERAL1 + + + Reactome + O75616 + + + + + 17q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 21464306[PMID] + + histidyl-tRNA synthetase 2, mitochondrial + HARS2 + + HARSR + HO3 + histidine tRNA ligase 2, mitochondrial (putative) + + + gene with protein product + + + + ClinVar + HARS2 + + + Ensembl + ENSG00000112855 + + + Genatlas + HARS2 + + + HGNC + 4817 + + + OMIM + 600783 + + + Reactome + P49590 + + + SwissProt + P49590 + + + + + 5q31.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 20673864[PMID] + + hydroxysteroid 17-beta dehydrogenase 4 + HSD17B4 + + 17-beta-HSD IV + 17-beta-hydroxysteroid dehydrogenase 4 + 17beta-estradiol dehydrogenase type IV + 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase + D-3-hydroxyacyl-CoA dehydratase + D-bifunctional protein, peroxisomal + DBP + MFE-2 + SDR8C1 + beta-hydroxyacyl dehydrogenase + beta-keto-reductase + peroxisomal multifunctional protein 2 + short chain dehydrogenase/reductase family 8C, member 1 + + + gene with protein product + + + + Ensembl + ENSG00000133835 + + + Genatlas + HSD17B4 + + + HGNC + 5213 + + + OMIM + 601860 + + + Reactome + P51659 + + + SwissProt + P51659 + + + ClinVar + HSD17B4 + + + + + 5q23.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 23541342[PMID] + + leucyl-tRNA synthetase 2, mitochondrial + LARS2 + + KIAA0028 + LEURS + Leucine tRNA ligase 2, mitochondrial + MGC26121 + mtLeuRS + leucine tRNA ligase 2, mitochondrial + + + gene with protein product + + + + ClinVar + LARS2 + + + Ensembl + ENSG00000011376 + + + Genatlas + LARS2 + + + HGNC + 17095 + + + OMIM + 604544 + + + Reactome + Q15031 + + + SwissProt + Q15031 + + + + + 3p21.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 25355836[PMID] + + twinkle mtDNA helicase + TWNK + + FLJ21832 + PEO + PEO1 + T7 helicase-related protein with intramitochondrial nucleoid localization + TWINKLE + TWINL + + + gene with protein product + + + + Ensembl + ENSG00000107815 + + + Genatlas + C10orf2 + + + HGNC + 1160 + + + OMIM + 606075 + + + Reactome + Q96RR1 + + + SwissProt + Q96RR1 + + + ClinVar + C10orf2 + + + + + 10q24.31 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 32403198[PMID] + + geranylgeranyl diphosphate synthase 1 + GGPS1 + + GGPPS1 + Geranylgeranyl pyrophosphate synthase + + + gene with protein product + + + + HGNC + 4249 + + + Ensembl + ENSG00000152904 + + + SwissProt + O95749 + + + OMIM + 606982 + + + Genatlas + GGPS1 + + + Reactome + O95749 + + + ClinVar + GGPS1 + + + IUPHAR + 643 + + + + + 1q42.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 34338890[PMID] + + required for meiotic nuclear division 1 homolog + RMND1 + + FLJ20627 + RMD1 + bA351K16.3 + + + gene with protein product + + + + OMIM + 614917 + + + SwissProt + Q9NWS8 + + + Ensembl + ENSG00000155906 + + + Genatlas + RMND1 + + + HGNC + 21176 + + + ClinVar + RMND1 + + + + + 6q25.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 642763 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642763 + Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation + + Malformation syndrome + + + Disorder + + + + 31400068[PMID] + + H1.4 linker histone, cluster member + H1-4 + + H1.4 + H1e + H1s-4 + + + gene with protein product + + + + HGNC + 4718 + + + Ensembl + ENSG00000168298 + + + SwissProt + P10412 + + + Reactome + P10412 + + + OMIM + 142220 + + + + + 6p22.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 642747 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642747 + PUM1-related cerebellar ataxia + + Disease + + + Disorder + + + + 31422002[PMID] + + pumilio RNA binding family member 1 + PUM1 + + KIAA0099 + PUMH1 + + + gene with protein product + + + + Ensembl + ENSG00000134644 + + + HGNC + 14957 + + + OMIM + 607204 + + + SwissProt + Q14671 + + + + + 1p35.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 642691 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642691 + Fragile X-associated primary ovarian insufficiency + + Disease + + + Disorder + + + + 36447079[PMID] + + fragile X messenger ribonucleoprotein 1 + FMR1 + + FMRP + FRAXA + MGC87458 + + + gene with protein product + + + + Ensembl + ENSG00000102081 + + + Genatlas + FMR1 + + + HGNC + 3775 + + + OMIM + 309550 + + + SwissProt + Q06787 + + + ClinVar + FMR1 + + + + + Xq27.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 642675 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642675 + CHD8 overgrowth syndrome + + Disease + + + Disorder + + + + 24998929[PMID]_26789910[PMID] + + chromodomain helicase DNA binding protein 8 + CHD8 + + DUPLIN + KIAA1564 + + + gene with protein product + + + + Ensembl + ENSG00000100888 + + + Genatlas + CHD8 + + + HGNC + 20153 + + + OMIM + 610528 + + + Reactome + Q9HCK8 + + + SwissProt + Q9HCK8 + + + ClinVar + CHD8 + + + + + 14q11.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 642671 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642671 + Familial hyperaldosteronism type IV + + Disease + + + Disorder + + + + 27729216[PMID]_25907736[PMID] + + calcium voltage-gated channel subunit alpha1 H + CACNA1H + + Cav3.2 + + + gene with protein product + + + + Ensembl + ENSG00000196557 + + + Genatlas + CACNA1H + + + HGNC + 1395 + + + IUPHAR + 536 + + + OMIM + 607904 + + + Reactome + O95180 + + + SwissProt + O95180 + + + ClinVar + CACNA1H + + + + + 16p13.3 + 1 + + + + + Disease-causing germline mutation(s) (gain of function) in + + + Assessed + + + + + + 642099 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642099 + Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type + + Disease + + + Disorder + + + + 36779427[PMID] + + beta-1,3-galactosyltransferase 6 + B3GALT6 + + beta-1,3-galactosyltransferase-6 + beta3GalT6 + + + gene with protein product + + + + ClinVar + B3GALT6 + + + Ensembl + ENSG00000176022 + + + Genatlas + B3GALT6 + + + HGNC + 17978 + + + OMIM + 615291 + + + Reactome + Q96L58 + + + SwissProt + Q96L58 + + + + + 1p36.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 642085 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642085 + EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity + + Disease + + + Disorder + + + + 36779427[PMID] + + exocyst complex component 6B + EXOC6B + + KIAA0919 + + + gene with protein product + + + + ClinVar + EXOC6B + + + HGNC + 17085 + + + Ensembl + ENSG00000144036 + + + OMIM + 607880 + + + SwissProt + Q9Y2D4 + + + Genatlas + EXOC6B + + + Reactome + Q9Y2D4 + + + + + 2p13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 632603 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=632603 + Mesomelic dysplasia-digital anomalies-intellectual disability syndrome + + Malformation syndrome + + + Disorder + + + + 33961779[PMID] + + ALF transcription elongation factor 3 + AFF3 + + MLLT2-like + + + gene with protein product + + + + SwissProt + P51826 + + + Ensembl + ENSG00000144218 + + + HGNC + 6473 + + + OMIM + 601464 + + + + + 2q11.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 633021 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633021 + SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome + + Clinical subtype + + + Subtype of disorder + + + + 34797034[PMID] + + solute carrier family 12 member 2 + SLC12A2 + + BSC-2 + NKCC1 + CCC1 + BSC2 + PPP1R141 + bumetanide-sensitive cotransporter type 2 + basolateral Na-K-Cl symporter + protein phosphatase 1, regulatory subunit 141 + + + gene with protein product + + + + HGNC + 10911 + + + Ensembl + ENSG00000064651 + + + SwissProt + P55011 + + + Reactome + P55011 + + + IUPHAR + 969 + + + OMIM + 600840 + + + + + 5q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 633024 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633024 + SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome + + Clinical subtype + + + Subtype of disorder + + + + 32658972[PMID] + + solute carrier family 12 member 2 + SLC12A2 + + BSC-2 + NKCC1 + CCC1 + BSC2 + PPP1R141 + bumetanide-sensitive cotransporter type 2 + basolateral Na-K-Cl symporter + protein phosphatase 1, regulatory subunit 141 + + + gene with protein product + + + + HGNC + 10911 + + + Ensembl + ENSG00000064651 + + + SwissProt + P55011 + + + Reactome + P55011 + + + IUPHAR + 969 + + + OMIM + 600840 + + + + + 5q23.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 633004 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633004 + KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome + + Disease + + + Disorder + + + + 30929739[PMID] + + lysine demethylase 3B + KDM3B + + NET22 + KIAA1082 + + + gene with protein product + + + + OMIM + 609373 + + + HGNC + 1337 + + + SwissProt + Q7LBC6 + + + IUPHAR + 2674 + + + Ensembl + ENSG00000120733 + + + + + 5q31.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 633035 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633035 + Intellectual disability-early-onset cataract-microcephaly syndrome + + Malformation syndrome + + + Disorder + + + + 33632302[PMID] + + coat protein complex I subunit beta 1 + COPB1 + + + + gene with protein product + + + + HGNC + 2231 + + + Ensembl + ENSG00000129083 + + + OMIM + 600959 + + + SwissProt + P53618 + + + + + 11p15.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 633028 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633028 + CPE-related Prader-Willi-like syndrome + + Disease + + + Disorder + + + + 34383079[PMID] + + carboxypeptidase E + CPE + + insulin granule-associated carboxypeptidase + enkephalin convertase + cobalt-stimulated chromaffin granule carboxypeptidase + carboxypeptidase H + + + gene with protein product + + + + HGNC + 2303 + + + Ensembl + ENSG00000109472 + + + OMIM + 114855 + + + IUPHAR + 1595 + + + SwissProt + P16870 + + + + + 4q32.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 615938 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615938 + Spastic paraparesis-cataracts-speech delay syndrome + + Clinical syndrome + + + Disorder + + + + 33239752[PMID] + + fatty acyl-CoA reductase 1 + FAR1 + + FLJ22728 + SDR10E1 + short chain dehydrogenase/reductase family 10E, member 1 + + + gene with protein product + + + + Ensembl + ENSG00000197601 + + + Genatlas + FAR1 + + + HGNC + 26222 + + + OMIM + 616107 + + + Reactome + Q8WVX9 + + + SwissProt + Q8WVX9 + + + ClinVar + FAR1 + + + + + 11p15.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 615986 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615986 + Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster + + Etiological subtype + + + Subtype of disorder + + + + 27640307[PMID] + + ATPase family AAA domain containing 3A + ATAD3A + + FLJ10709 + + + gene with protein product + + + + Genatlas + ATAD3A + + + Ensembl + ENSG00000197785 + + + ClinVar + ATAD3A + + + Reactome + Q9NVI7 + + + OMIM + 612316 + + + HGNC + 25567 + + + SwissProt + Q9NVI7 + + + + + 1p36.33 + 1 + + + + + Role in the phenotype of + + + Assessed + + + + + + 615983 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615983 + Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation + + Etiological subtype + + + Subtype of disorder + + + + 28549128[PMID] + + ATPase family AAA domain containing 3A + ATAD3A + + FLJ10709 + + + gene with protein product + + + + Genatlas + ATAD3A + + + Ensembl + ENSG00000197785 + + + ClinVar + ATAD3A + + + Reactome + Q9NVI7 + + + OMIM + 612316 + + + HGNC + 25567 + + + SwissProt + Q9NVI7 + + + + + 1p36.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 621758 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=621758 + Fibrosis-neurodegeneration-cerebral angiomatosis syndrome + + Disease + + + Disorder + + + + 30138417[PMID]_30239752[PMID] + + NHL repeat containing 2 + NHLRC2 + + FLJ33312 + MGC45492 + FLJ20147 + FLJ25621 + DKFZp779F115 + + + gene with protein product + + + + HGNC + 24731 + + + Ensembl + ENSG00000196865 + + + OMIM + 618277 + + + SwissProt + Q8NBF2 + + + + + 10q25.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 620371 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620371 + Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation + + Disease + + + Disorder + + + + 34607911[PMID] + + mitochondrially encoded tRNA-Phe (UUU/C) + MT-TF + + trnF + + + Non-coding RNA + + + + Ensembl + ENSG00000210049 + + + Genatlas + MT-TF + + + HGNC + 7481 + + + OMIM + 590070 + + + ClinVar + MT-TF + + + + + mitochondria + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + 34607911[PMID] + + mitochondrially encoded tRNA-Ile (AUU/C) + MT-TI + + trnI + + + Non-coding RNA + + + + Ensembl + ENSG00000210100 + + + Genatlas + MT-TI + + + HGNC + 7488 + + + OMIM + 590045 + + + ClinVar + MT-TI + + + + + mitochondria + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 620368 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620368 + EGF-related primary hypomagnesemia with intellectual disability + + Disease + + + Disorder + + + + 17671655[PMID] + + epidermal growth factor + EGF + + Pro-epidermal growth factor + + + gene with protein product + + + + ClinVar + EGF + + + Ensembl + ENSG00000138798 + + + Genatlas + EGF + + + HGNC + 3229 + + + OMIM + 131530 + + + Reactome + P01133 + + + SwissProt + P01133 + + + + + 4q25 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 620363 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620363 + Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome + + Disease + + + Disorder + + + + 33600043[PMID] + + cyclin and CBS domain divalent metal cation transport mediator 2 + CNNM2 + + SLC70A2 + + + gene with protein product + + + + ClinVar + CNNM2 + + + Ensembl + ENSG00000148842 + + + Genatlas + CNNM2 + + + HGNC + 103 + + + OMIM + 607803 + + + SwissProt + Q9H8M5 + + + Reactome + Q9H8M5 + + + + + 10q24.32 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 620220 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620220 + Bartter syndrome type 2 + + Clinical subtype + + + Subtype of disorder + + + + 26963954[PMID] + + potassium inwardly rectifying channel subfamily J member 1 + KCNJ1 + + Kir1.1 + ROMK1 + ATP-sensitive inward rectifier potassium channel 1 + + + gene with protein product + + + + Ensembl + ENSG00000151704 + + + Genatlas + KCNJ1 + + + HGNC + 6255 + + + IUPHAR + 429 + + + OMIM + 600359 + + + Reactome + P48048 + + + SwissProt + P48048 + + + ClinVar + KCNJ1 + + + + + 11q24.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 620158 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620158 + Non-syndromic non-specific multisutural craniosynostosis + + Morphological anomaly + + + Disorder + + + + 34719684[PMID] + + fuzzy planar cell polarity protein + FUZ + + CPLANE3 + FLJ22688 + Fy + ciliogenesis and planar polarity effector complex subunit 3 + + + gene with protein product + + + + Ensembl + ENSG00000010361 + + + Genatlas + FUZ + + + HGNC + 26219 + + + OMIM + 610622 + + + Reactome + Q9BT04 + + + SwissProt + Q9BT04 + + + ClinVar + FUZ + + + + + 19q13.33 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 623695 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623695 + MIR140-related spondyloepiphyseal dysplasia + + Malformation syndrome + + + Disorder + + + + 30804514[PMID] + + microRNA 140 + MIR140 + + hsa-mir-140 + MIR-140 + + + Non-coding RNA + + + + HGNC + 31527 + + + Ensembl + ENSG00000208017 + + + OMIM + 611894 + + + + + 16q22.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 622925 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622925 + X-linked severe syndromic thoracic aortic aneurysm and dissection + + Malformation syndrome + + + Disorder + + + + 27632686[PMID] + + biglycan + BGN + + biglycan proteoglycan + DSPG1 + SLRR1A + + + gene with protein product + + + + ClinVar + BGN + + + HGNC + 1044 + + + OMIM + 301870 + + + Genatlas + BGN + + + SwissProt + P21810 + + + Reactome + P21810 + + + Ensembl + ENSG00000182492 + + + + + Xq28 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 622934 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622934 + SBDS-related severe neonatal spondylometaphyseal dysplasia + + Malformation syndrome + + + Disorder + + + + 31633310[PMID] + + SBDS ribosome maturation factor + SBDS + + CGI-97 + FLJ10917 + SDS + SWDS + SDO1 + + + gene with protein product + + + + ClinVar + SBDS + + + Ensembl + ENSG00000126524 + + + Genatlas + SBDS + + + HGNC + 19440 + + + OMIM + 607444 + + + SwissProt + Q9Y3A5 + + + + + 7q11.21 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 617919 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617919 + F12-associated cold autoinflammatory syndrome + + Disease + + + Disorder + + + + 31924766[PMID] + + coagulation factor XII + F12 + + Plasma coagulation Factor XIIa + + + gene with protein product + + + + Ensembl + ENSG00000131187 + + + Genatlas + F12 + + + HGNC + 3530 + + + IUPHAR + 2361 + + + OMIM + 610619 + + + Reactome + P00748 + + + ClinVar + F12 + + + SwissProt + P00748 + + + + + 5q35.3 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 619941 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619941 + Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency + + Disease + + + Disorder + + + + 32128589[PMID] + + myocardin related transcription factor A + MRTFA + + MKL + BSAC + KIAA1438 + MAL + MRTF-A + basic, SAP and coiled-coil domain + megakaryocytic acute leukemia + myocardin-related transcription factor A + + + gene with protein product + + + + Ensembl + ENSG00000196588 + + + Genatlas + MKL1 + + + HGNC + 14334 + + + OMIM + 606078 + + + Reactome + Q969V6 + + + SwissProt + Q969V6 + + + ClinVar + MKL1 + + + + + 22q13.1-q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 619367 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619367 + SAMD9L-associated autoinflammatory syndrome + + Disease + + + Disorder + + + + 31874111[PMID] + + sterile alpha motif domain containing 9 like + SAMD9L + + FLJ39885 + KIAA2005 + + + gene with protein product + + + + HGNC + 1349 + + + OMIM + 611170 + + + Genatlas + SAMD9L + + + ClinVar + SAMD9L + + + SwissProt + Q8IVG5 + + + Ensembl + ENSG00000177409 + + + + + 7q21.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 619953 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619953 + Familial hyperinflammatory lymphoproliferative immunodeficiency + + Disease + + + Disorder + + + + 32766723[PMID] + + NCK associated protein 1 like + NCKAP1L + + + + gene with protein product + + + + Ensembl + ENSG00000123338 + + + OMIM + 141180 + + + Reactome + P55160 + + + SwissProt + P55160 + + + HGNC + 4862 + + + + + 12q13.13-q13.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 619948 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619948 + Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency + + Disease + + + Disorder + + + + 32853638[PMID] + + suppressor of cytokine signaling 1 + SOCS1 + + JAB + TIP3 + SOCS-1 + SSI-1 + Cish1 + + + gene with protein product + + + + HGNC + 19383 + + + OMIM + 603597 + + + SwissProt + O15524 + + + Ensembl + ENSG00000185338 + + + ClinVar + SOCS1 + + + Genatlas + SOCS1 + + + + + 16p13.13 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 619979 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619979 + Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome + + Disease + + + Disorder + + + + 31953710[PMID] + + NFE2 like bZIP transcription factor 2 + NFE2L2 + + NRF2 + NF-E2-related factor 2 + NRF-2 + + + gene with protein product + + + + HGNC + 7782 + + + SwissProt + Q16236 + + + OMIM + 600492 + + + Ensembl + ENSG00000116044 + + + IUPHAR + 3057 + + + ClinVar + NFE2L2 + + + Genatlas + NFE2L2 + + + + + 2q31.2 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 619972 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619972 + CADINS disease + + Disease + + + Disorder + + + + 31953710[PMID] + + caspase recruitment domain family member 11 + CARD11 + + BIMP3 + CARMA1 + bcl10-interacting maguk protein 3 + card-maguk protein 1 + + + gene with protein product + + + + ClinVar + CARD11 + + + Ensembl + ENSG00000198286 + + + Genatlas + CARD11 + + + HGNC + 16393 + + + OMIM + 607210 + + + Reactome + Q9BXL7 + + + SwissProt + Q9BXL7 + + + + + 7p22.2 + 1 + + + + + Disease-causing germline mutation(s) (loss of function) in + + + Assessed + + + + + + 619363 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619363 + NOCARH syndrome + + Disease + + + Disorder + + + + 31271789[PMID] + + cell division cycle 42 + CDC42 + + GTP binding protein, 25kDa + CDC42Hs + G25K + + + gene with protein product + + + + HGNC + 1736 + + + Genatlas + CDC42 + + + Reactome + P60953 + + + OMIM + 116952 + + + ClinVar + CDC42 + + + SwissProt + P60953 + + + Ensembl + ENSG00000070831 + + + + + 1p36.12 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + + 619233 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619233 + Hereditary persistence of fetal hemoglobin-intellectual disability syndrome + + Disease + + + Disorder + + + + 27453576[PMID] + + BCL11 transcription factor A + BCL11A + + BCL11A-L + BCL11A-S + BCL11A-XL + CTIP1 + HBFQTL5 + ZNF856 + SMARCM1 + + + gene with protein product + + + + Ensembl + ENSG00000119866 + + + Genatlas + BCL11A + + + HGNC + 13221 + + + OMIM + 606557 + + + SwissProt + Q9H165 + + + ClinVar + BCL11A + + + + + 2p16.1 + 1 + + + + + Disease-causing germline mutation(s) in + + + Assessed + + + + + +