DISEASE FINDER Posted on aprile 10 2016aprile 10 2016 by Breda Genetics srl Disease Finder (IT) Il Disease Finder può essere usato per individuare geni o condizioni cliniche per le quali il test genetico è disponibile con Breda Genetics srl. Poiché molte condizioni sono geneticamente eterogenee, raccomandiamo di consultare anche la nostra lista dei pannelli. Cerca per Malattia Gene Cerca per MALATTIA 17,20-lyase deficiency, isolated, 202110 202110 CYP17A1 17-alpha-hydroxylase/17,20-lyase deficiency, 202110 202110 CYP17A1 17-beta-hydroxysteroid dehydrogenase X deficiency, 300438 300438 HSD17B10 2-aminoadipic 2-oxoadipic aciduria, 204750 204750 DHTKD1 2-methylbutyrylglycinuria, 610006 610006 ACADSB 3-beta-hydroxysteroid dehydrogenase, type II, deficiency, 201810 201810 HSD3B2 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 231530 HADHSC 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 250620 HIBCH 3-M syndrome 1, 273750 273750 CUL7 3-M syndrome 2, 612921 612921 OBSL1 3-M syndrome 3, 614205 614205 CCDC8 3MC syndrome 1, 257920 257920 MASP1 3MC syndrome 2, 265050 265050 COLEC11 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 210200 MCCC1 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 210210 MCCC2 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 614739 SERAC1 3-methylglutaconic aciduria, type I, 250950 250950 AUH 3-methylglutaconic aciduria, type III, 258501 258501 OPA3 3-methylglutaconic aciduria, type V, 610198 610198 DNAJC19 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 616271 CLPB 3p- syndrome DEL3pterp25 3q21q26 syndrome MECOM 46,XY sex reversal 9, 616067 616067 ZFPM2 46XX sex reversal 1, 400045 400045 SRY 46XX sex reversal 2 SRXX2 46XX sex reversal 3 SRXX3 46XY partial gonadal dysgenesis, with minifascicular neuropathy, 607080 607080 DHH 46XY sex reversal 1, 400044 400044 SRY 46XY sex reversal 2, dosage-sensitive, 300018 300018 DAX1 46XY sex reversal 3, 612965 612965 NR5A1 46XY sex reversal 4 DEL9p24.3 46XY sex reversal 5, 613080 613080 CBX2 46XY sex reversal 6, 613762 613762 MAP3K1 46XY sex reversal 7, 233420 233420 DHH 46XY sex reversal 8, 614279 614279 AKR1C2 5-fluorouracil toxicity, 274270 274270 DPYD 5-oxoprolinase deficiency, 260005 260005 OPLAH 6-mercaptopurine sensitivity, 610460 610460 TPMT Aarskog-Scott syndrome, 305400 305400 FGD1 ABCD syndrome, 600501 600501 EDNRB Abdominal obesity-metabolic syndrome AOMS2 Abdominal obesity-metabolic syndrome 1 AOMS1 Abdominal obesity-metabolic syndrome 3, 615812 615812 DYRK1B Abetalipoproteinemia, 200100 200100 MTP Acampomelic campomelic dysplasia, 114290 114290 SOX9 Acatalasemia, 614097 614097 CAT Acetyl-CoA carboxylase deficiency, 613933 613933 ACACA Achalasia-addisonianism-alacrimia syndrome, 231550 231550 AAAS Acheiropody, 200500 200500 LMBR1 Achondrogenesis Ib, 600972 600972 SLC26A2 Achondrogenesis, type IA, 200600 200600 TRIP11 Achondrogenesis, type II or hypochondrogenesis, 200610 200610 COL2A1 Achondroplasia, 100800 100800 FGFR3 Achromatopsia 6, 610024 610024 PDE6H Achromatopsia-2, 216900 216900 CNGA3 Achromatopsia-3, 262300 262300 CNGB3 Achromatopsia-4, 613856 613856 GNAT2 Acid-labile subunit, deficiency of, 615961 615961 IGFALS Acne inversa, familial, 1, 142690 142690 NCSTN Acne inversa, familial, 2, 613736 613736 PSENEN Acne inversa, familial, 3, 613737 613737 PSEN1 Acrocallosal syndrome, 200990 200990 KIF7 Acrocapitofemoral dysplasia, 607778 607778 IHH Acrodermatitis enteropathica, 201100 201100 SLC39A4 Acrodysostosis 1, with or without hormone resistance, 101800 101800 PRKAR1A Acrodysostosis 2, with or without hormone resistance, 614613 614613 PDE4D Acrofacial dysostosis 1, Nager type, 154400 154400 SF3B4 Acrokeratosis verruciformis, 101900 101900 ATP2A2 Acromegaloid features, overgrowth, cleft palate, and hernia AOCH Acromegaly, somatic, 102200 102200 GNAS Acromelic frontonasal dysostosis, 603671 603671 ZSWIM6 Acromesomelic dysplasia, Hunter-Thompson type, 201250 201250 GDF5 Acromesomelic dysplasia, Maroteaux type, 602875 602875 NPR2 Acromicric dysplasia, 102370 102370 FBN1 Acropectoral syndrome ACRPS Acropectorovertebral dysplasia ACRPV ACTH-independent macronodular adrenal hyperplasia 2, 615954 615954 ARMC5 ACTH-independent macronodular adrenal hyperplasia, 219080 219080 GNAS Acute insulin response AIR Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 201450 ACADM Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 201470 ACADS Adams-Oliver syndrome 1, 100300 100300 ARHGAP31 Adams-Oliver syndrome 2, 614219 614219 DOCK6 Adams-Oliver syndrome 3, 614814 614814 RBPJ Adams-Oliver syndrome 4, 615297 615297 EOGT Adams-Oliver syndrome 5, 616028 616028 NOTCH1 Adenine phosphoribosyltransferase deficiency, 614723 614723 APRT Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 211980 EGFR Adenocarcinoma of lung, somatic, 211980 211980 BRAF Adenocarcinoma of lung, somatic, 211980 211980 ERBB2 Adenocarcinoma of lung, somatic, 211980 211980 PRKN Adenocarcinoma, colonic, somatic RAD54L Adenocarcinoma, ovarian, somatic, 167000 167000 PRKN Adenoma, periampullary, somatic APC Adenomas, multiple colorectal, 608456 608456 MUTYH Adenomas, salivary gland pleomorphic, 181030 181030 PLAG1 Adenomatous polyposis coli, 175100 175100 APC Adenosine deaminase deficiency, partial, 102700 102700 ADA Adenosine triphosphate, elevated, of erythrocytes, 102900 102900 PKLR Adenylosuccinase deficiency, 103050 103050 ADSL Adermatoglyphia, 136000 136000 SMARCAD1 Adiponectin deficiency, 612556 612556 ADIPOQ Adrenal adenoma, somatic MEN1 Adrenal cortical carcinoma, 202300 202300 TP53 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 202010 CYP11B1 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 201910 CYP21A2 Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism, 300200 300200 DAX1 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 613743 CYP11A1 Adrenocortical insufficiency NR5A1 Adrenocortical tumor, somatic, PRKAR1A Adrenocorticotropic hormone deficiency, 201400 201400 TBX19 Adrenoleukodystrophy, 300100 300100 ABCD1 Adrenomyeloneuropathy, adult, 300100 300100 ABCD1 Adult i phenotype without cataract, 110800 110800 GCNT2 ADULT syndrome, 103285 103285 TP63 Advanced sleep phase syndrome, familial, 1, 604348 604348 PER2 Advanced sleep-phase syndrome, familial, 2, 615224 615224 CSNK1D Afibrinogenemia, congenital, 202400 202400 FGA Afibrinogenemia, congenital, 202400 202400 FGB Afibrinogenemia, congenital, 202400 202400 FGG Agammaglobulinemia 1, 601495 601495 IGHM Agammaglobulinemia 2, 613500 613500 IGLL1 Agammaglobulinemia 3, 613501 613501 CD79A Agammaglobulinemia 4, 613502 613502 BLNK Agammaglobulinemia 5, 613506 613506 LRRC8A Agammaglobulinemia 6, 612692 612692 CD79B Agammaglobulinemia and isolated hormone deficiency, 307200 307200 BTK Agammaglobulinemia, X-linked 1, 300755 300755 BTK Agammaglobulinemia, X-linked 2 AGMX2 Agenesis of the corpus callosum with peripheral neuropathy, 218000 218000 SLC12A6 Agnathia-otocephaly complex, 202650 202650 PRRX1 Aicardi syndrome AIC Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 225750 TREX1 Aicardi-Goutieres syndrome 2, 610181 610181 RNASEH2B Aicardi-Goutieres syndrome 3, 610329 610329 RNASEH2C Aicardi-Goutieres syndrome 4, 610333 610333 RNASEH2A Aicardi-Goutieres syndrome 5, 612952 612952 SAMHD1 Aicardi-Goutieres syndrome 6, 615010 615010 ADAR Aicardi-Goutieres syndrome 7, 615846 615846 IFIH1 AICA-ribosiduria due to ATIC deficiency, 608688 608688 ATIC Alacrima, achalasia, and mental retardation syndrome, 615510 615510 GMPPA Alagille syndrome 2, 610205 610205 NOTCH2 Alagille syndrome, 118450 118450 JAG1 Aland Island eye disease, 300600 300600 CACNA1F Alazami syndrome, 615071 615071 LARP7 Albinism, brown oculocutaneous, 203200 203200 OCA2 Albinism, oculocutaneous, type IA, 203100 203100 TYR Albinism, oculocutaneous, type IB, 606952 606952 TYR Albinism, oculocutaneous, type II, 203200 203200 OCA2 Albinism, oculocutaneous, type III, 203290 203290 TYRP1 Albinism, oculocutaneous, type IV, 606574 606574 SLC45A2 Albinism, oculocutaneous, type V OCA5 Albinism, oculocutaneous, type VI, 113750 113750 SLC24A5 Albinism, oculocutaneous, type VII, 615179 615179 C10orf11 Albinism-deafness syndrome ADFN Alcohol sensitivity, acute, 610251 610251 ALDH2 Aldosterone to renin ratio raised CYP11B2 Aldosteronism, glucocorticoid-remediable, 103900 103900 CYP11B1 Alexander disease, 203450 203450 GFAP Alkaptonuria, 203500 203500 HGD Allan-Herndon-Dudley syndrome, 300523 300523 SLC16A2 Alopecia areata 1 AA1 Alopecia areata 2 AA2 Alopecia universalis, 203655 203655 HR Alopecia, androgenetic, 1 1 AFA1 Alopecia, androgenetic, 2 2 AGA2 Alopecia, androgenetic, 3 3 AGA3 Alopecia-mental retardation syndrome 1 APMR1 Alopecia-mental retardation syndrome 2 APMR2 Alopecia-mental retardation syndrome 3 APMR3 Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 609889 RAG1 Alpha-1-antichymotrypsin deficiency SERPINA3 Alpha-2-macroglobulin deficiency, 614036 614036 A2M Alpha-2-plasmin inhibitor deficiency, 262850 262850 PLI Alpha-fetoprotein deficiency, 615969 615969 AFP Alpha-ketoglutarate dehydrogenase deficiency, 203740 203740 OGDH Alpha-methylacetoacetic aciduria, 203750 203750 ACAT1 Alpha-methylacyl-CoA racemase deficiency, 614307 614307 AMACR Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 300448 ATRX Alpha-thalassemia/mental retardation syndrome, 301040 301040 ATRX Alpha-thalassemia/mental retardation syndrome, type 1 HBHR Alport syndrome, 301050 301050 COL4A5 Alport syndrome, autosomal dominant, 104200 104200 COL4A3 Alport syndrome, autosomal recessive, 203780 203780 COL4A3 Alport syndrome, autosomal recessive, 203780 203780 COL4A4 Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis AMMEC Alstrom syndrome, 203800 203800 ALMS1 Alternating hemiplegia of childhood 2, 614820 614820 ATP1A3 Alternating hemiplegia of childhood, 104290 104290 ATP1A2 Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 265380 FOXF1 Alveolar soft-part sarcoma, 606243 606243 ASPSCR1 Alzheimer disease 1, familial, 104300 104300 APP Alzheimer disease 17 AD17 Alzheimer disease 6, 104300 104300 AD6 Alzheimer disease 8, 104300 104300 AD8 Alzheimer disease, type 3, 607822 607822 PSEN1 Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 607822 PSEN1 Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 607822 PSEN1 Alzheimer disease-10, 104300 104300 AD10 Alzheimer disease-11 AD11 Alzheimer disease-2, 104310 104310 APOE Alzheimer disease-4, 606889 606889 PSEN2 Alzheimer disease-5, 104300 104300 AD5 Alzheimer disease-7 AD7 Amelogenesis imperfecta, type 1E, 301200 301200 AMELX Amelogenesis imperfecta, type IA, 104530 104530 LAMB3 Amelogenesis imperfecta, type IB, 104500 104500 ENAM Amelogenesis imperfecta, type IC, 204650 204650 ENAM Amelogenesis imperfecta, type IF, 616270 616270 AMBN Amelogenesis imperfecta, type IG FAM20A Amelogenesis imperfecta, type IH, 616221 616221 ITGB6 Amelogenesis imperfecta, type IIA1, 204700 204700 KLK4 Amelogenesis imperfecta, type IIA2, 612529 612529 MMP20 Amelogenesis imperfecta, type IIA3, 613211 613211 WDR72 Amelogenesis imperfecta, type IIA4, 614832 614832 C4orf26 Amelogenesis imperfecta, type IIA5, 615887 615887 SLC24A4 Amelogenesis imperfecta, type III, 130900 130900 FAM83H Amelogenesis imperfecta, type IV, 104510 104510 DLX3 Aminoacylase 1 deficiency, 609924 609924 ACY1 Amish infantile epilepsy syndrome, 609056 609056 SIAT9 Amyloidosis, 3 or more types, 105200 105200 APOA1 Amyloidosis, familial visceral, 105200 105200 FGA Amyloidosis, Finnish type, 105120 105120 GSN Amyloidosis, hereditary, transthyretin-related, 105210 105210 TTR Amyloidosis, primary localized cutaneous, 1, 105250 105250 OSMR Amyloidosis, primary localized cutaneous, 2, 613955 613955 IL31RA Amyloidosis, renal, 105200 105200 LYZ Amyotrophic lateral sclerosis 1, 105400 105400 SOD1 Amyotrophic lateral sclerosis 10, with or without FTD, 612069 612069 TARDBP Amyotrophic lateral sclerosis 11, 612577 612577 FIG4 Amyotrophic lateral sclerosis 12, 613435 613435 OPTN Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 613954 VCP Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857 300857 UBQLN2 Amyotrophic lateral sclerosis 16, juvenile, 614373 614373 SIGMAR1 Amyotrophic lateral sclerosis 17, 614696 614696 CHMP2B Amyotrophic lateral sclerosis 18, 614808 614808 PFN1 Amyotrophic lateral sclerosis 19, 615515 615515 ERBB4 Amyotrophic lateral sclerosis 2, juvenile, 205100 205100 ALS2 Amyotrophic lateral sclerosis 20, 615426 615426 HNRNPA1 Amyotrophic lateral sclerosis 21, 606070 606070 MATR3 Amyotrophic lateral sclerosis 22 with or without frontotemoral dementia, 616208 616208 TUBA4A Amyotrophic lateral sclerosis 3 ALS3 Amyotrophic lateral sclerosis 4, juvenile, 602433 602433 SETX Amyotrophic lateral sclerosis 5, juvenile recessive ALS5 Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia, 608030 608030 FUS Amyotrophic lateral sclerosis 7 ALS7 Amyotrophic lateral sclerosis 8, 608627 608627 VAPB Amyotrophic lateral sclerosis 9, 611895 611895 ANG Amyotrophic lateral sclerosis and/or frontotemporal dementia, 105550 105550 C9orf72 Amyotrophy, hereditary neuralgic, 162100 162100 SEPT9 Analbuminemia, 616000 616000 ALB Anauxetic dysplasia, 607095 607095 RMRP Andersen syndrome, 170390 170390 KCNJ2 Androgen insensitivity, 300068 300068 AR Androgen insensitivity, partial, with or without breast cancer, 312300 312300 AR Anemia, hemolytic, due to UMPH1 deficiency, 266120 266120 NT5C3A Anemia, hemolytic, Rh-null, regulator type, 268150 268150 RHAG Anemia, hypochromic microcytic, 206100 206100 NRAMP2 Anemia, neonatal hemolytic, fatal and near-fatal SPTB Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 205950 SLC25A38 Anemia, sideroblastic, with ataxia, 301310 301310 ABCB7 Anemia, sideroblastic, X-linked, 300751 300751 ALAS2 Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835 300835 GATA1 Aneurysm, intracranial berry, 1 1 ANIB1 Aneurysm, intracranial berry, 11 11 ANIB11 Aneurysm, intracranial berry, 2 2 ANIB2 Aneurysm, intracranial berry, 3 3 ANIB3 Aneurysm, intracranial berry, 4 4 ANIB4 Aneurysm, intracranial berry, 5 5 ANIB5 Aneurysm, intracranial berry, 7 7 ANIB7 Aneurysm, intracranial berry, 8 ANIB8 Aneurysmal bone cysts ANBC Angelman syndrome, 105830 105830 MECP2 Angelman syndrome, 105830 105830 UBE3A Angelman syndrome-like, 105830 105830 CDKL5 Angio serpiginosum AGSPX Angioedema, hereditary, type III, 610618 610618 F12 Angioedema, hereditary, types I and II, 106100 106100 C1NH Angiofibroma, somatic MEN1 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 611773 COL4A1 Aniridia, 106210 106210 PAX6 Anisomastia ANMA Anonychia congenita, 206800 206800 RSPO4 Anosmia, isolated congenital ANIC Anterior segment anomalies with or without cataract, 113650 113650 EYA1 Anterior segment mesenchymal dysgenesis, 107250 107250 FOXE3 Anterior segment mesenchymal dysgenesis, 107250 107250 PITX3 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 201750 POR Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 207410 FGFR2 Aortic aneurysm, ascending, and dissection FBN1 Aortic aneurysm, familial abdominal 1 AAA1 Aortic aneurysm, familial abdominal 2 AAA2 Aortic aneurysm, familial abdominal, 4 4 AAA4 Aortic aneurysm, familial thoracic 1 AAT1 Aortic aneurysm, familial thoracic 2 AAT2 Aortic aneurysm, familial thoracic 4, 132900 132900 MYH11 Aortic aneurysm, familial thoracic 6, 611788 611788 ACTA2 Aortic aneurysm, familial thoracic 7, 613780 613780 MYLK Aortic aneurysm, familial thoracic 8, 615436 615436 PRKG1 Aortic aneurysm, familial thoracic 9, 616166 616166 MFAP5 Aortic valve disease 1, 109730 109730 NOTCH1 Aortic valve disease 2, 614823 614823 SMAD6 Apert syndrome, 101200 101200 FGFR2 Aphakia, congenital primary, 610256 610256 FOXE3 Aphasia, primary progressive, 607485 607485 GRN Aplasia of lacrimal and salivary glands, 180920 180920 FGF10 Aplastic anemia, 609135 609135 NBS1 Apnea, postanesthetic BCHE ApoA-I and apoC-III deficiency, combined APOA1 Apolipoprotein A-II deficiency APOA2 Apolipoprotein C-III deficiency, 614028 614028 APOC3 Apparent mineralocorticoid excess, 218030 218030 HSD11B2 Argininemia, 207800 207800 ARG1 Argininosuccinic aciduria, 207900 207900 ASL Aromatase deficiency, 613546 613546 CYP19A1 Aromatase excess syndrome, 139300 139300 CYP19A1 Aromatic L-amino acid decarboxylase deficiency, 608643 608643 DDC Arrhythmogenic right ventricular dysplasia 1, 107970 107970 TGFB3 Arrhythmogenic right ventricular dysplasia 10, 610193 610193 DSG2 Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 610476 DSC2 Arrhythmogenic right ventricular dysplasia 11, 610476 610476 DSC2 Arrhythmogenic right ventricular dysplasia 12, 611528 611528 JUP Arrhythmogenic right ventricular dysplasia 2, 600996 600996 RYR2 Arrhythmogenic right ventricular dysplasia 3 ARVD3 Arrhythmogenic right ventricular dysplasia 4 ARVD4 Arrhythmogenic right ventricular dysplasia 5, 604400 604400 TMEM43 Arrhythmogenic right ventricular dysplasia 6 ARVD6 Arrhythmogenic right ventricular dysplasia 8, 607450 607450 DSP Arrhythmogenic right ventricular dysplasia 9, 609040 609040 PKP2 Arrhythmogenic right ventricular dysplasia, familial, 13, 615616 615616 CTNNA3 Arterial calcification, generalized, of infancy, 1, 208000 208000 ENPP1 Arterial calcification, generalized, of infancy, 2, 614473 614473 ABCC6 Arterial tortuosity syndrome, 208050 208050 SLC2A10 Arthrogryposis multiplex congenita, distal, type 1, 108120 108120 TPM2 Arthrogryposis multiplex congenita, distal, type 2B, 601680 601680 TNNI2 Arthrogryposis multiplex congenita, neurogenic AMCN Arthrogryposis, distal, type 10 DA10 Arthrogryposis, distal, type 1B, 614335 614335 MYBPC1 Arthrogryposis, distal, type 2A, 193700 193700 MYH3 Arthrogryposis, distal, type 2B, 601680 601680 MYH3 Arthrogryposis, distal, type 2B, 601680 601680 TPM2 Arthrogryposis, distal, type 3, 114300 114300 PIEZO2 Arthrogryposis, distal, type 5, 108145 108145 PIEZO2 Arthrogryposis, distal, type 5D, 615065 615065 ECEL1 Arthrogryposis, lethal, with anterior horn cell disease, 611890 611890 GLE1 Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 208085 VPS33B Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 613404 VIPAS39 Arthropathy, progressive pseudorheumatoid, of childhood, 208230 208230 WISP3 Arthyrgryposis, distal, type 2B, 601680 601680 TNNT3 Arts syndrome, 301835 301835 PRPS1 Asparagine synthetase deficiency, 615574 615574 ASNS Aspartate aminotransferase, serum level of, QTL1, 614419 614419 GOT1 Aspartylglucosaminuria, 208400 208400 AGA Asplenia, isolated congenital, 271400 271400 RPSA Asthma and nasal polyps, 208550 208550 TBX21 Ataxia with isolated vitamin E deficiency, 277460 277460 TTPA Ataxia, cerebellar, Cayman type, 601238 601238 ATCAY Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 208920 APTX Ataxia, posterior column, with retinitis pigmentosa, 609033 609033 FLVCR1 Ataxia, sensory, 1, autosomal dominant, 608984 608984 RNF170 Ataxia, spastic, 4, 613672 613672 MTPAP Ataxia, spastic, 5, autosomal recessive, 614487 614487 AFG3L2 Ataxia-oculomotor apraxia 3, 615217 615217 PIK3R5 Ataxia-oculomotor apraxia 4, 616267 616267 PNKP Ataxia-telangiectasia, 208900 208900 ATM Ataxia-telangiectasia-like disorder, 604391 604391 MRE11A Atelosteogenesis II, 256050 256050 SLC26A2 Atelosteogenesis, type I, 108720 108720 FLNB Atelosteogenesis, type III, 108721 108721 FLNB Athabaskan brainstem dysgenesis syndrome, 601536 601536 HOXA1 Atopy, 147050 147050 SPINK5 Atransferrinemia, 209300 209300 TF Atrial fibrillation, familial, 1 1 ATFB1 Atrial fibrillation, familial, 10, 614022 614022 SCN5A Atrial fibrillation, familial, 11, 614049 614049 GJA5 Atrial fibrillation, familial, 12, 614050 614050 ABCC9 Atrial fibrillation, familial, 13, 615377 615377 SCN1B Atrial fibrillation, familial, 14, 615378 615378 SCN2B Atrial fibrillation, familial, 16, 613120 613120 SCN3B Atrial fibrillation, familial, 17, 611819 611819 SCN4B Atrial fibrillation, familial, 2 2 ATFB2 Atrial fibrillation, familial, 3, 607554 607554 KCNQ1 Atrial fibrillation, familial, 4, 611493 611493 KCNE2 Atrial fibrillation, familial, 6, 612201 612201 NPPA Atrial fibrillation, familial, 7, 612240 612240 KCNA5 Atrial fibrillation, familial, 8 ATFB8 Atrial fibrillation, familial, 9, 613980 613980 KCNJ2 Atrial septal defect 1 ASD1 Atrial septal defect 2, 607941 607941 GATA4 Atrial septal defect 3, 614089 614089 MYH6 Atrial septal defect 4, 611363 611363 TBX20 Atrial septal defect 5, 612794 612794 ACTC1 Atrial septal defect 6, 613087 613087 TLL1 Atrial septal defect 7, with or without AV conduction defects, 108900 108900 NKX2-5 Atrial septal defect 8, 614433 614433 CITED2 Atrial septal defect 9, 614475 614475 GATA6 Atrial standstill 2, 615745 615745 NPPA Atrial standstill, digenic GJA5 Atrichia with papular lesions, 209500 209500 HR Atrioventricular septal defect 3, 600309 600309 GJA1 Atrioventricular septal defect 4, 614430 614430 GATA4 Atrioventricular septal defect 5, 614474 614474 GATA6 Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 606217 CRELD1 Auditory neuropathy, autosomal dominant, 1, 609129 609129 DIAPH3 Auditory neuropathy, autosomal recessive, 1, 601071 601071 OTOF Aural atresia, congenital CAA Aural atresia, congenital, 607842 607842 TSHZ1 Auriculocondylar syndrome 1, 602483 602483 GNAI3 Auriculocondylar syndrome 2, 614669 614669 PLCB4 Auriculocondylar syndrome 3, 615706 615706 EDN1 Autoimmune disease, multisystem, infantile-onset, 615952 615952 STAT3 Autoimmune disease, multisystem, with facial dysmorphism, 613385 613385 ITCH Autoimmune lymphoproliferative syndrome type IV, 614470 614470 NRAS Autoimmune lymphoproliferative syndrome, type IA, 601859 601859 FAS Autoimmune lymphoproliferative syndrome, type IB, 601859 601859 FASLG Autoimmune lymphoproliferative syndrome, type II, 603909 603909 CASP10 Autoimmune lymphoproliferative syndrome, type III, 615559 615559 PRKCD Autoimmune lymphoproliferative syndrome, type V, 616100 616100 CTLA4 Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 240300 AIRE Autoinflammation with infantile enterocolitis, 616050 616050 NLRC4 Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 614878 PLCG2 Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040 256040 PSMB8 Autonomic nervous system dysfunction DRD4 Avascular necrosis of the femoral head, 608805 608805 COL2A1 Axenfeld-Rieger syndrome, type 1, 180500 180500 PITX2 Axenfeld-Rieger syndrome, type 3, 602482 602482 FOXC1 Bainbridge-Ropers syndrome, 615485 615485 ASXL3 Baller-Gerold syndrome, 218600 218600 RECQL4 Bamforth-Lazarus syndrome, 241850 241850 FOXE1 Band-like calcification with simplified gyration and polymicrogyria, 251290 251290 OCLN Bannayan-Riley-Ruvalcaba syndrome, 153480 153480 PTEN Baraitser-Winter syndrome 1, 243310 243310 ACTB Baraitser-Winter syndrome 2, 614583 614583 ACTG1 Bardet-Biedl syndrome 1, 209900 209900 BBS1 Bardet-Biedl syndrome 10, 615987 615987 BBS10 Bardet-Biedl syndrome 12, 615989 615989 BBS12 Bardet-Biedl syndrome 13, 615990 615990 MKS1 Bardet-Biedl syndrome 16, 615993 615993 SDCCAG8 Bardet-Biedl syndrome 17, 615994 615994 LZTFL1 Bardet-Biedl syndrome 2, 615981 615981 BBS2 Bardet-Biedl syndrome 3, 600151 600151 ARL6 Bardet-Biedl syndrome 4, 615982 615982 BBS4 Bardet-Biedl syndrome 5, 615983 615983 BBS5 Bardet-Biedl syndrome 6, 605231 605231 MKKS Bardet-Biedl syndrome 7, 615984 615984 BBS7 Bardet-Biedl syndrome 8, 615985 615985 TTC8 Bardet-Biedl syndrome 9, 615986 615986 PTHB1 Bare lymphocyte syndrome, type I, 604571 604571 TAP1 Bare lymphocyte syndrome, type I, 604571 604571 TAPBP Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 604571 TAP2 Bare lymphocyte syndrome, type II, complementation group A, 209920 209920 MHC2TA Bare lymphocyte syndrome, type II, complementation group C, 209920 209920 RFX5 Bare lymphocyte syndrome, type II, complementation group D, 209920 209920 RFXAP Bare lymphocyte syndrome, type II, complementation group E, 209920 209920 RFX5 Barrett esophagus/esophageal adenocarcinoma, 614266 614266 MSR1 Barrett esophagus/esophageal adenocarcinoma, 614266 614266 CTHRC1 Barrett esophagus/esophageal adenocarcinoma, 614266 614266 ASCC1 Barth syndrome, 302060 302060 TAZ Bart-Pumphrey syndrome, 149200 149200 GJB2 Bartter syndrome, type 1, 601678 601678 SLC12A1 Bartter syndrome, type 2, 241200 241200 KCNJ1 Bartter syndrome, type 3, 607364 607364 CLCNKB Bartter syndrome, type 4a, 602522 602522 BSND Bartter syndrome, type 4b, digenic, 613090 613090 CLCNKB Bartter syndrome, type 4b, digenic, 613090 613090 CLCNKA Basal cell carcinoma, somatic SMOH Basal cell carcinoma, somatic, 605462 605462 RASA1 Basal cell carcinoma, somatic, 605462 605462 PTCH1 Basal cell carcinoma, somatic, 605462 605462 PTCH2 Basal cell nevus syndrome, 109400 109400 PTCH1 Basal cell nevus syndrome, 109400 109400 PTCH2 Basal cell nevus syndrome, 109400 109400 SUFU Basal ganglia calcification, idiopathic, 1, 213600 213600 SLC20A2 Basal ganglia calcification, idiopathic, 2 2 IBGC2 Basal ganglia calcification, idiopathic, 4, 615007 615007 PDGFRB Basal ganglia calcification, idiopathic, 5, 615483 615483 PDGFB Basal laminar drusen, 126700 126700 HF1 Bazex syndrome BZX B-cell non-Hodgkin lymphoma, high-grade BCL7A Beare-Stevenson cutis gyrata syndrome, 123790 123790 FGFR2 Beaulieu-Boycott-Innes syndrome, 613680 613680 THOC6 Becker muscular dystrophy, 300376 300376 DMD Beckwith-Wiedemann syndrome, 130650 130650 H19 Beckwith-Wiedemann syndrome, 130650 130650 CDKN1C Beckwith-Wiedemann syndrome, 130650 130650 KCNQ1OT1 Beckwith-Wiedemann syndrome, 130650 130650 NSD1 Beckwith-Wiedemann syndrome, 130650 130650 ICR1 Bent bone dysplasia syndrome, 614592 614592 FGFR2 Bernard-Soulier syndrome, type A1 GP1BA Bernard-Soulier syndrome, type A2 GP1BA Bernard-Soulier syndrome, type B, 231200 231200 GP1BB Bernard-Soulier syndrome, type C, 231200 231200 GP9 Bestrophinopathy, autosomal recessive, 611809 611809 BEST1 Beta-2-adrenoreceptor agonist, reduced response to ADRB2 Beta-ureidopropionase deficiency, 613161 613161 UPB1 Bethlem myopathy, 158810 158810 COL6A1 Bethlem myopathy, 158810 158810 COL6A2 Bethlem myopathy, 158810 158810 COL6A3 Bietti crystalline corneoretinal dystrophy, 210370 210370 CYP4V2 Bifid nose with or without anorectal and renal anomalies, 608980 608980 FREM1 Bile acid malabsorption, primary, 613291 613291 SLC10A2 Bile acid synthesis defect, congenital, 1, 607765 607765 HSD3B7 Bile acid synthesis defect, congenital, 2, 235555 235555 AKR1D1 Bile acid synthesis defect, congenital, 3, 613812 613812 CYP7B1 Bile acid synthesis defect, congenital, 4, 214950 214950 AMACR Biliary cirrhosis, primary, 1 1 PBC1 Biliary cirrhosis, primary, 4 4 PBC4 Biliary cirrhosis, primary, 5 5 PBC5 Biotinidase deficiency, 253260 253260 BTD Birk-Barel mental retardation dysmorphism syndrome, 612292 612292 KCNK9 Birt-Hogg-Dube syndrome, 135150 135150 FLCN Bjornstad syndrome, 262000 262000 BCS1L Bladder cancer, somatic, 109800 109800 FGFR3 Bladder cancer, somatic, 109800 109800 KRAS Bladder cancer, somatic, 109800 109800 RB1 Blau syndrome, 186580 186580 NOD2 Bleeding disorder due to P2RX1 defect P2RX1 Bleeding disorder, east Texas type BDET Bleeding disorder, platelet-type, 11, 614201 614201 GP6 Bleeding disorder, platelet-type, 15, 615193 615193 ACTN1 Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 187800 ITGB3 Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 187800 ITGA2B Bleeding disorder, platelet-type, 17, 187900 187900 GFI1B Bleeding disorder, platelet-type, 8, 609821 609821 P2RY12 Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100 110100 FOXL2 Blepharophimosis, epicanthus inversus, and ptosis, type 2, 110100 110100 FOXL2 Blood group--Lutheran inhibitor, 111150 111150 KLF1 Bloom syndrome, 210900 210900 RECQL3 Blue cone monochromacy, 303700 303700 OPN1MW Blue cone monochromacy, 303700 303700 OPN1LW Bohring-Opitz syndrome, 605039 605039 ASXL1 Bone marrow failure syndrome 1, 614675 614675 SRP72 Bone marrow failure syndrome 2, 615715 615715 ERCC6L2 Bone mineral density QTL18, osteoporosis, 300910 300910 PLS3 Boomerang dysplasia, 112310 112310 FLNB Bor-Duane hydrocephalus contiguous gene syndrome DEL8q12q21 Borjeson-Forssman-Lehmann syndrome, 301900 301900 PHF6 Bornholm eye disease BED Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722 615722 NR2F1 Bosley-Salih-Alorainy syndrome, 601536 601536 HOXA1 Bothnia retinal dystrophy, 607475 607475 RLBP1 Boucher-Neuhauser syndrome, 215470 215470 PNPLA6 Bowen-Conradi syndrome, 211180 211180 EMG1 Brachiootic syndrome 3, 608389 608389 SIX1 Brachydactyly, type A1, 112500 112500 IHH Brachydactyly, type A1, B BDA1B Brachydactyly, type A1, C, 615072 615072 GDF5 Brachydactyly, type A2, 112600 112600 BMP2 Brachydactyly, type A2, 112600 112600 GDF5 Brachydactyly, type A2, 112600 112600 BMPR1B Brachydactyly, type B1, 113000 113000 ROR2 Brachydactyly, type B2, 611377 611377 NOG Brachydactyly, type C, 113100 113100 GDF5 Brachydactyly, type D, 113200 113200 HOXD13 Brachydactyly, type E, 113300 113300 HOXD13 Brachydactyly, type E2, 613382 613382 PTHLH Brachydactyly-mental retardation syndrome, 600430 600430 HDAC4 Brachydactyly-syndactyly syndrome, 610713 610713 HOXD13 Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 612847 PAPSS2 Brachyolmia type 3, 113500 113500 TRPV4 Bradyopsia, 608415 608415 RGS9 Bradyopsia, 608415 608415 RGS9BP Brain small vessel disease with or without ocular anomalies, 607595 607595 COL4A1 Brain tumor-polyposis syndrome 2, 175100 175100 APC Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 614923 BCKDK Branchiooculofacial syndrome, 113620 113620 TFAP2A Branchiootic syndrome 1, 602588 602588 EYA1 Branchiootic syndrome 2 BOS2 Branchiootorenal syndrome 1, with or without cataracts, 113650 113650 EYA1 Branchiootorenal syndrome 2, 610896 610896 SIX5 Breast cancer BCPR Breast cancer, 11:22 translocation associated BRCATA Breast cancer, 114480 114480 TP53 Breast cancer, 114480 114480 PPM1D Breast cancer, early-onset, 114480 114480 BRIP1 Breast cancer, somatic, 114480 114480 AKT1 Breast cancer, somatic, 114480 114480 PIK3CA Breast cancer, somatic, 114480 114480 KRAS Breast cancer, somatic, 114480 114480 TSG101 Breast cancer, somatic, 114480 114480 SLC22A1L Breast cancer, somatic, 114480 114480 RB1CC1 Brittle cornea syndrome 1, 229200 229200 ZNF469 Brittle cornea syndrome 2, 614170 614170 PRDM5 Brody myopathy, 601003 601003 ATP2A1 Bronchiectasis with or without elevated sweat chloride 1, 211400 211400 SCNN1B Bronchiectasis with or without elevated sweat chloride 2, 613021 613021 SCNN1A Bronchiectasis with or without elevated sweat chloride 3, 613071 613071 SCNN1G Brooke-Spiegler syndrome, 605041 605041 CYLD Brooks-Wisniewski-Brown syndrome MRXSBWB Brown-Vialetto-Van Laere syndrome 1, 211530 211530 SLC52A3 Brown-Vialetto-Van Laere syndrome 2, 614707 614707 SLC52A2 Bruck syndrome 1, 259450 259450 FKBP10 Bruck syndrome 2, 609220 609220 PLOD2 Brugada syndrome 1, 601144 601144 SCN5A Brugada syndrome 2, 611777 611777 GPD1L Brugada syndrome 3, 611875 611875 CACNA1C Brugada syndrome 4, 611876 611876 CACNB2 Brugada syndrome 5, 612838 612838 SCN1B Brugada syndrome 6, 613119 613119 KCNE3 Brugada syndrome 7, 613120 613120 SCN3B Brugada syndrome 8, 613123 613123 HCN4 Brunner syndrome, 300615 300615 MAOA Burkitt lymphoma, 113970 113970 MYC Burn-McKeown syndrome, 608572 608572 TXNL4A Buschke-Ollendorff syndrome, 166700 166700 LEMD3 C syndrome, 211750 211750 CD96 C1q deficiency, 613652 613652 C1QA C1q deficiency, 613652 613652 C1QB C1q deficiency, 613652 613652 C1QC C1r/C1s deficiency, combined, 216950 216950 C1R C1s deficiency, 613783 613783 C1S C2 deficiency, 217000 217000 C2 C3 deficiency, 613779 613779 C3 C4a deficiency, 614380 614380 C4A C4B deficiency, 614379 614379 C4B C5 deficiency, 609536 609536 C5 C6 deficiency, 612446 612446 C6 C7 deficiency, 610102 610102 C7 C8 deficiency, type I, 613790 613790 C8A C8 deficiency, type II, 613789 613789 C8B C9 deficiency, 613825 613825 C9 Caffey disease, 114000 114000 COL1A1 Calcification of joints and arteries, 211800 211800 NT5E Campomelic dysplasia with autosomal sex reversal, 114290 114290 SOX9 Campomelic dysplasia, 114290 114290 SOX9 Camptodactyly 1 CAMPD1 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 208250 PRG4 Camurati-Engelmann disease, 131300 131300 TGFB1 Canavan disease, 271900 271900 ASPA Candidiasis, familial, 1, autosomal dominant CANDF1 Candidiasis, familial, 2, autosomal recessive, 212050 212050 CARD9 Candidiasis, familial, 3 3 CANDF3 Candidiasis, familial, 4, autosomal recessive, 613108 613108 CLEC7A Candidiasis, familial, 5, autosomal recessive, 613953 613953 IL17RA Candidiasis, familial, 6, autosomal dominant, 613956 613956 IL17F CAP myopathy 1, 609284 609284 TPM3 CAP myopathy 2, 609285 609285 TPM2 Capillary malformation-arteriovenous malformation, 608354 608354 RASA1 Capillary malformations, congenital, 1, somatic, mosaic, 163000 163000 GNAQ CAPOS syndrome, 601338 601338 ATP1A3 CARASIL syndrome, 600142 600142 HTRA1 Carbamoylphosphate synthetase I deficiency, 237300 237300 CPS1 Carboxylesterase 1 deficiency CES1 Carboxypeptidase N deficiency, 212070 212070 CPN1 Carcinoid tumor of lung MEN1 Carcinoid tumors, intestinal, 114900 114900 SDHD Cardiac arrhythmia, ankyrin-B-related, 600919 600919 ANK2 Cardiac conduction defect, nonspecific, 612838 612838 SCN1B Cardiac valvular dysplasia, X-linked, 314400 314400 FLNA Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 604377 SCO2 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 615119 COX15 Cardiofaciocutaneous syndrome 2, 615278 615278 KRAS Cardiofaciocutaneous syndrome 3, 615279 615279 MAP2K1 Cardiofaciocutaneous syndrome 4, 615280 615280 MAP2K2 Cardiofaciocutaneous syndrome, 115150 115150 BRAF Cardiomyopathy, dilated 1B CMD1B Cardiomyopathy, dilated, 1A, 115200 115200 LMNA Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 612158 ACTN2 Cardiomyopathy, dilated, 1BB, 612877 612877 DSG2 Cardiomyopathy, dilated, 1C, with or without LVNC, 601493 601493 LDB3 Cardiomyopathy, dilated, 1CC, 613122 613122 NEXN Cardiomyopathy, dilated, 1D, 601494 601494 TNNT2 Cardiomyopathy, dilated, 1DD, 613172 613172 RBM20 Cardiomyopathy, dilated, 1E, 601154 601154 SCN5A Cardiomyopathy, dilated, 1EE, 613252 613252 MYH6 Cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D CMD1F Cardiomyopathy, dilated, 1FF, 613286 613286 TNNI3 Cardiomyopathy, dilated, 1G, 604145 604145 TTN Cardiomyopathy, dilated, 1GG, 613642 613642 SDHA Cardiomyopathy, dilated, 1H CMD1H Cardiomyopathy, dilated, 1HH, 613881 613881 BAG3 Cardiomyopathy, dilated, 1I, 604765 604765 DES Cardiomyopathy, dilated, 1II, 615184 615184 CRYAB Cardiomyopathy, dilated, 1J, 605362 605362 EYA4 Cardiomyopathy, dilated, 1JJ, 615235 615235 LAMA4 Cardiomyopathy, dilated, 1K CMD1K Cardiomyopathy, dilated, 1KK, 615248 615248 MYPN Cardiomyopathy, dilated, 1L, 606685 606685 SGCD Cardiomyopathy, dilated, 1LL, 615373 615373 PRDM16 Cardiomyopathy, dilated, 1MM, 615396 615396 MYBPC3 Cardiomyopathy, dilated, 1NN, 615916 615916 RAF1 Cardiomyopathy, dilated, 1O, 608569 608569 ABCC9 Cardiomyopathy, dilated, 1P, 609909 609909 PLN Cardiomyopathy, dilated, 1Q CMD1Q Cardiomyopathy, dilated, 1R, 613424 613424 ACTC1 Cardiomyopathy, dilated, 1S, 613426 613426 MYH7 Cardiomyopathy, dilated, 1U, 613694 613694 PSEN1 Cardiomyopathy, dilated, 1V, 613697 613697 PSEN2 Cardiomyopathy, dilated, 1W, 611407 611407 VCL Cardiomyopathy, dilated, 1X, 611615 611615 FKTN Cardiomyopathy, dilated, 1Y, 611878 611878 TPM1 Cardiomyopathy, dilated, 1Z, 611879 611879 TNNC1 Cardiomyopathy, dilated, 3B, 302045 302045 DMD Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 605676 DSP Cardiomyopathy, familial hypertrophic, 192600 192600 CAV3 Cardiomyopathy, familial hypertrophic, 9, 613765 613765 TTN Cardiomyopathy, familial restrictive, 1, 115210 115210 TNNI3 Cardiomyopathy, familial restrictive, 2 2 RCM2 Cardiomyopathy, familial restrictive, 3, 612422 612422 TNNT2 Cardiomyopathy, familial restrictive, 4, 615248 615248 MYPN Cardiomyopathy, hypertrophic 6, 600858 600858 PRKAG2 Cardiomyopathy, hypertrophic, 1, 192600 192600 MYH7 Cardiomyopathy, hypertrophic, 1, digenic, 192600 192600 MYLK2 Cardiomyopathy, hypertrophic, 10, 608758 608758 MYL2 Cardiomyopathy, hypertrophic, 11, 612098 612098 ACTC1 Cardiomyopathy, hypertrophic, 12, 612124 612124 CSRP3 Cardiomyopathy, hypertrophic, 13, 613243 613243 TNNC1 Cardiomyopathy, hypertrophic, 14, 613251 613251 MYH6 Cardiomyopathy, hypertrophic, 15, 613255 613255 VCL Cardiomyopathy, hypertrophic, 16, 613838 613838 MYOZ2 Cardiomyopathy, hypertrophic, 17, 613873 613873 JPH2 Cardiomyopathy, hypertrophic, 18, 613874 613874 PLN Cardiomyopathy, hypertrophic, 19, 613875 613875 CALR3 Cardiomyopathy, hypertrophic, 2, 115195 115195 TNNT2 Cardiomyopathy, hypertrophic, 20, 613876 613876 NEXN Cardiomyopathy, hypertrophic, 21 21 CMH21 Cardiomyopathy, hypertrophic, 22, 615248 615248 MYPN Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 612158 ACTN2 Cardiomyopathy, hypertrophic, 24, 601493 601493 LDB3 Cardiomyopathy, hypertrophic, 25, 607487 607487 TCAP Cardiomyopathy, hypertrophic, 3, 115196 115196 TPM1 Cardiomyopathy, hypertrophic, 4, 115197 115197 MYBPC3 Cardiomyopathy, hypertrophic, 7, 613690 613690 TNNI3 Cardiomyopathy, hypertrophic, 8, 608751 608751 MYL3 Carney complex variant, 608837 608837 MYH8 Carney complex, type 1, 160980 160980 PRKAR1A Carney complex, type II CNC2 Carnitine deficiency, systemic primary, 212140 212140 SLC22A5 Carnitine-acylcarnitine translocase deficiency, 212138 212138 SLC25A20 Carnosinemia CNSN Carotid intimal medial thickness CIMT Carotid intimal medial thickness 1, 609338 609338 PPARG Carpal tunnel syndrome, familial, 115430 115430 TTR Carpenter syndrome 2, 614976 614976 MEGF8 Carpenter syndrome, 201000 201000 RAB23 Cartilage-hair hypoplasia, 250250 250250 RMRP Cat eye syndrome CECR Cataract 1, multiple types, 116200 116200 GJA8 Cataract 10, multiple types, 600881 600881 CRYBA1 Cataract 11, multiple types, 610623 610623 PITX3 Cataract 11, syndromic, 610623 610623 PITX3 Cataract 12, multiple types, 611597 611597 BFSP2 Cataract 13 with adult i phenotype, 116700 116700 GCNT2 Cataract 14, multiple types, 601885 601885 GJA3 Cataract 15, multiple types, 615274 615274 MIP Cataract 16, multiple types, 613763 613763 CRYAB Cataract 17, multiple types, 611544 611544 CRYBB1 Cataract 18, autosomal recessive, 610019 610019 FYCO1 Cataract 19, 615277 615277 LIM2 Cataract 2, multiple types, 604307 604307 CRYGC Cataract 20, multiple types, 116100 116100 CRYGS Cataract 21, multiple types, 610202 610202 MAF Cataract 22, autosomal recessive, 609741 609741 CRYBB3 Cataract 23, 610425 610425 CRYBA4 Cataract 24, anterior polar CTRCT24 Cataract 25 CTRCT25 Cataract 26, multiple types CTRCT26 Cataract 27, nuclear progressive CTRCT27 Cataract 29, coralliform CTRCT29 Cataract 3, multiple types, 601547 601547 CRYBB2 Cataract 30, pulverulent, 116300 116300 VIM Cataract 31, multiple types, 605387 605387 CHMP4B Cataract 32, multiple types CTRCT32 Cataract 33, 611391 611391 BFSP1 Cataract 34, multiple types CTRCT34 Cataract 35, congenital nuclear CTRCT35 Cataract 36, 613887 613887 TDRD7 Cataract 37, autosomal dominant CTRCT37 Cataract 38, autosomal recessive, 614691 614691 AGK Cataract 39, multiple types, autosomal dominant, 615188 615188 CRYGB Cataract 4, multiple types, 115700 115700 CRYGD Cataract 40, X-linked, 302200 302200 NHS Cataract 5, multiple types, 116800 116800 HSF4 Cataract 6, multiple types, 116600 116600 EPHA2 Cataract 7 CTRCT7 Cataract 8, multiple types CTRCT8 Cataract 9, multiple types, 604219 604219 CRYAA Cataract with late-onset corneal dystrophy, 106210 106210 PAX6 Cataract, juvenile, with microcornea and glucosuria, 612018 612018 SLC16A12 Catel-Manzke syndrome, 616145 616145 TGDS CATSHL syndrome, 610474 610474 FGFR3 Caudal regression syndrome, 600145 600145 VANGL1 Cavernous malformations of CNS and retina, 116860 116860 CCM1 Cavitary optic disc anomalies CODA Cayler cardiofacial syndrome ACF CD8 deficiency, familial, 608957 608957 CD8A CDAGS syndrome CDAGS Cenani-Lenz syndactyly syndrome, 212780 212780 LRP4 Central core disease, 117000 117000 RYR1 Central hypoventilation syndrome, 209880 209880 GDNF Central hypoventilation syndrome, congenital, 209880 209880 ASCL1 Central hypoventilation syndrome, congenital, 209880 209880 BDNF Central hypoventilation syndrome, congenital, 209880 209880 EDN3 Central hypoventilation syndrome, congenital, 209880 209880 RET Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 209880 PMX2B Centronuclear myopathy 5, 615959 615959 SPEG Centrotemporal epilepsy ECT Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 212840 RNF216 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 613227 CA8 Cerebellar ataxia, 604290 604290 CP Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 604121 DNMT1 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 610185 WDR81 Cerebellar ataxia, nonprogressive, with mental retardation, 614756 614756 CAMTA1 Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 224050 VLDLR Cerebellofaciodental syndrome, 616202 616202 BRF1 Cerebral amyloid angiopathy, 105150 105150 CST3 Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, 605714 605714 APP Cerebral amyloid angiopathy, PRNP-related, 137440 137440 PRNP Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, 125310 125310 NOTCH3 Cerebral cavernous malformations 3, 603285 603285 PDCD10 Cerebral cavernous malformations-1, 116860 116860 CCM1 Cerebral cavernous malformations-2, 603284 603284 C7orf22 Cerebral creatine deficiency syndrome 1, 300352 300352 SLC6A8 Cerebral creatine deficiency syndrome 2, 612736 612736 GAMT Cerebral creatine deficiency syndrome 3, 612718 612718 GATM Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 609528 SNAP29 Cerebral palsy, ataxic, autosomal recessive ACP Cerebral palsy, spastic quadriplegic, 1, 603513 603513 GAD1 Cerebral palsy, spastic quadriplegic, 2, 612900 612900 KANK1 Cerebral-cerebellar-coloboma syndrome, X-linked CCCSX Cerebrocostomandibular syndrome, 117650 117650 SNRPB Cerebrooculofacioskeletal syndrome 1, 214150 214150 ERCC6 Cerebrooculofacioskeletal syndrome 2, 610756 610756 ERCC2 Cerebrooculofacioskeletal syndrome 4, 610758 610758 ERCC1 Cerebroretinal microangiopathy with calcifications and cysts, 612199 612199 CTC1 Cerebrotendinous xanthomatosis, 213700 213700 CYP27A1 Cerebrovascular disease, occlusive SERPINA3 Ceroid lipofuscinosis, neuronal, 1, 256730 256730 PPT1 Ceroid lipofuscinosis, neuronal, 10, 610127 610127 CTSD Ceroid lipofuscinosis, neuronal, 11, 614706 614706 GRN Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 615362 CTSF Ceroid lipofuscinosis, neuronal, 2, 204500 204500 TPP1 Ceroid lipofuscinosis, neuronal, 3, 204200 204200 CLN3 Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 162350 DNAJC5 Ceroid lipofuscinosis, neuronal, 5, 256731 256731 CLN5 Ceroid lipofuscinosis, neuronal, 6, 601780 601780 CLN6 Ceroid lipofuscinosis, neuronal, 7, 610951 610951 MFSD8 Ceroid lipofuscinosis, neuronal, 8, 600143 600143 CLN8 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003 610003 CLN8 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 204300 CLN6 Cervical cancer, somatic, 603956 603956 FGFR3 Cervical carcinoma ST3 Chanarin-Dorfman syndrome, 275630 275630 ABHD5 Char syndrome, 169100 169100 TFAP2B Charcot-Marie-Tooth disease, axonal, type 20, 614228 614228 DYNC1H1 Charcot-Marie-Tooth disease, axonal, type 2F, 606595 606595 HSPB1 Charcot-Marie-Tooth disease, axonal, type 2G CMT2G Charcot-Marie-Tooth disease, axonal, type 2H CMT2H Charcot-Marie-Tooth disease, axonal, type 2K, 607831 607831 GDAP1 Charcot-Marie-Tooth disease, axonal, type 2L, 608673 608673 HSPB8 Charcot-Marie-Tooth disease, axonal, type 2M, 606482 606482 DNM2 Charcot-Marie-Tooth disease, axonal, type 2N, 613287 613287 AARS Charcot-Marie-Tooth disease, axonal, type 2S, 616155 616155 IGHMBP2 Charcot-Marie-Tooth disease, axonal, type 2U, 616280 616280 MARS Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 607706 GDAP1 Charcot-Marie-Tooth disease, dominant intermediate A CMTDIA Charcot-Marie-Tooth disease, dominant intermediate B, 606482 606482 DNM2 Charcot-Marie-Tooth disease, dominant intermediate C, 608323 608323 YARS Charcot-Marie-Tooth disease, dominant intermediate D, 607791 607791 MPZ Charcot-Marie-Tooth disease, dominant intermediate E, 614455 614455 INF2 Charcot-Marie-Tooth disease, dominant intermediate F, 615185 615185 GNB4 Charcot-Marie-Tooth disease, foot deformity of, 192950 192950 HOXD10 Charcot-Marie-Tooth disease, recessive intermediate C, 615376 615376 PLEKHG5 Charcot-Marie-Tooth disease, recessive intermediate D, 616039 616039 COX6A1 Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 608340 GDAP1 Charcot-Marie-Tooth disease, type 1A, 118220 118220 PMP22 Charcot-Marie-Tooth disease, type 1B, 118200 118200 MPZ Charcot-Marie-Tooth disease, type 1C, 601098 601098 LITAF Charcot-Marie-Tooth disease, type 1D, 607678 607678 EGR2 Charcot-Marie-Tooth disease, type 1E, 118300 118300 PMP22 Charcot-Marie-Tooth disease, type 1F, 607734 607734 NEFL Charcot-Marie-Tooth disease, type 2A2, 609260 609260 MFN2 Charcot-Marie-Tooth disease, type 2B, 600882 600882 RAB7 Charcot-Marie-Tooth disease, type 2B1, 605588 605588 LMNA Charcot-Marie-Tooth disease, type 2D, 601472 601472 GARS Charcot-Marie-Tooth disease, type 2E, 607684 607684 NEFL Charcot-Marie-Tooth disease, type 2I, 607677 607677 MPZ Charcot-Marie-Tooth disease, type 2J, 607736 607736 MPZ Charcot-Marie-Tooth disease, type 4A, 214400 214400 GDAP1 Charcot-Marie-Tooth disease, type 4B1, 601382 601382 MTMR2 Charcot-Marie-Tooth disease, type 4B2, 604563 604563 SBF2 Charcot-Marie-Tooth disease, type 4B3, 615284 615284 SBF1 Charcot-Marie-Tooth disease, type 4C, 601596 601596 SH3TC2 Charcot-Marie-Tooth disease, type 4D, 601455 601455 NDRG1 Charcot-Marie-Tooth disease, type 4F, 614895 614895 PRX Charcot-Marie-Tooth disease, type 4H, 609311 609311 FGD4 Charcot-Marie-Tooth disease, type 4J, 611228 611228 FIG4 Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 311070 PRPS1 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 302800 GJB1 Charcot-Marie-Tooth neuropathy, X-linked recessive, 2 2 CMTX2 Charcot-Marie-Tooth neuropathy, X-linked recessive, 3 3 CMTX3 Charcot-Marie-Toothe disease, axonal, type 2P, 614436 614436 LRSAM1 CHARGE syndrome, 214800 214800 SEMA3E CHARGE syndrome, 214800 214800 CHD7 Chediak-Higashi syndrome, 214500 214500 LYST Cherubism, 118400 118400 SH3BP2 Chilblain lupus 2, 614415 614415 SAMHD1 Chilblain lupus, 610448 610448 TREX1 CHILD syndrome, 308050 308050 NSDHL CHIME syndrome, 280000 280000 PIGL Choanal atresia and lymphedema, 613611 613611 PTPN14 Cholangitis, primary sclerosing PSC Cholestasis, benign recurrent intrahepatic, 2, 605479 605479 ABCB11 Cholestasis, benign recurrent intrahepatic, 243300 243300 ATP8B1 Cholestasis, intrahepatic, of pregnancy, 1, 147480 147480 ATP8B1 Cholestasis, intrahepatic, of pregnancy, 3, 614972 614972 ABCB4 Cholestasis, progressive canalicular VIL1 Cholestasis, progressive familial intrahepatic 1, 211600 211600 ATP8B1 Cholestasis, progressive familial intrahepatic 2, 601847 601847 ABCB11 Cholestasis, progressive familial intrahepatic 3, 602347 602347 ABCB4 Cholestasis, progressive familial intrahepatic 4, 615878 615878 TJP2 Cholestasis-lymphedema syndrome LCS1 Cholesteryl ester storage disease, 278000 278000 LIPA Chondrocalcinosis 2, 118600 118600 ANKH Chondrocalcinosis with early-onset osteoarthritis CCAL1 Chondrodysplasia punctata, rhizomelic, type 2, 222765 222765 GNPAT Chondrodysplasia punctata, X-linked dominant, 302960 302960 EBP Chondrodysplasia punctata, X-linked recessive, 302950 302950 ARSE Chondrodysplasia with joint dislocations, GRAPP type, 614078 614078 IMPAD1 Chondrodysplasia, Blomstrand type, 215045 215045 PTHR1 Chondrodysplasia, Grebe type, 200700 200700 GDF5 Chondrosarcoma, 215300 215300 EXT1 Chondrosarcoma, extraskeletal myxoid, 612237 612237 CSMF Chondrosarcoma, extraskeletal myxoid, 612237 612237 TAF15 CHOPS syndrome, 616368 616368 AFF4 Chorea, hereditary benign, 118700 118700 NKX2-1 Choreoacanthocytosis, 200150 200150 VPS13A Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 610978 NKX2-1 Choriodal dystrophy, central areolar 2, 613105 613105 PRPH2 Chorioretinal atrophy, progressive bifocal PBCRA Choroid plexus papilloma, 260500 260500 TP53 Choroidal dystrophy, central areolar 1 CACD1 Choroideremia, 303100 303100 CHM Choroideremia, deafness, and mental retardation DELXq21 Chromosome 10q23 deletion syndrome DEL10q23 Chromosome 10q26 deletion syndrome DEL10q26 Chromosome 11p15-p14 deletion syndrome DEL11p15p14 Chromosome 13q14 deletion syndrome DEL13q14 Chromosome 14q11-q22 deletion syndrome DEL14q11q22 Chromosome 15q11.2 deletion syndrome DEL15q11.2 Chromosome 15q13.3 microdeletion syndrome DEL15q13.3 Chromosome 15q24 deletion syndrome DEL15q24 Chromosome 15q25 deletion syndrome DEL15q25 Chromosome 15q26-qter deletion syndrome DEL15q26qter Chromosome 16p11.2 deletion syndrome, 220kb 220kb BMIQ16 Chromosome 16p11.2 deletion syndrome, 593kb 593kb DEL16p11.2 Chromosome 16p11.2 duplication syndrome DUP16p11.2 Chromosome 16p12.1 deletion syndrome, 520kb 520kb DEL16p12.1 Chromosome 16p12.2-p11.2 deletion syndrome DEL16p12.1p11.2 Chromosome 16p13.3 deletion syndrome DEL16p13.3 Chromosome 16p13.3 duplication syndrome DUP16p13.3 Chromosome 16q22 deletion syndrome C16DELq22 Chromosome 17p13.1 deletion syndrome DEL17p13.1 Chromosome 17p13.3 duplication syndrome DUP17p13.3 Chromosome 17q11.2 deletion syndrome, 1.4Mb DEL17q11.2 Chromosome 17q12 deletion syndrome DEL17q12 Chromosome 17q12 duplication syndrome DUP17q12 Chromosome 17q21.31 duplication syndrome DUP17q21.31 Chromosome 17q23.1-q23.2 deletion syndrome DEL17q23.1q23.2 Chromosome 17q23.1-q23.2 duplication syndrome DUP17q23.1q23.2 Chromosome 18 pericentric inversion DUP18pDEL18q Chromosome 18p deletion syndrome DEL18p Chromosome 18q deletion syndrome DEL18q Chromosome 19p13.13 deletion syndrome DEL19p13.13 Chromosome 19p13.13 duplication syndrome DEL19p13.13 Chromosome 19q13.11 deletion syndrome DEL19q13.11 Chromosome 1p32-p31 deletion syndrome DEL1p32p31 Chromosome 1p36 deletion syndrome DEL1p36 Chromosome 1q21.1 deletion syndrome DEL1q21 Chromosome 1q21.1 duplication syndrome DUP1q21 Chromosome 1q41-q42 deletion syndrome DEL1q41q42 Chromosome 22q11.2 deletion syndrome, distal DEL22q11.2 Chromosome 22q11.2 microduplication syndrome DUP22q11.2 Chromosome 22q13 duplication syndrome, 615538 615538 DUP22q13 Chromosome 2p12-p11.2 deletion syndrome DEL2p12p11.2 Chromosome 2p16.1-p15 deletion syndrome DEL2p16.1-p15 Chromosome 2q31.1 duplication syndrome DUP2q31.1 Chromosome 2q31.2 deletion syndrome DEL2q31 Chromosome 3q13.31 deletion syndrome DEL3q13.31 Chromosome 3q29 microdeletion syndrome DEL3q29 Chromosome 3q29 microduplication syndrome DUP3q29 Chromosome 4q21 deletion syndrome DEL4q21 Chromosome 4q32.1-q32.2 triplication syndrome TRIP4q32.1q32.2 Chromosome 5p13 duplication syndrome DUP5p13 Chromosome 5q12 deletion sydrome DEL5q12 Chromosome 5q14.3 deletion syndrome, 613443 613443 MEF2C Chromosome 6pter-p24 deletion syndrome DEL6pter Chromosome 6q11-q14 deletion syndrome DEL6q11q14 Chromosome 6q25-q25 deletion syndrome DEL6q24q25 Chromosome 7q11.23 deletion syndrome, distal, 1.2Mb DEL7q11.23 Chromosome 7q11.23 duplication syndrome DUP7q11.23 Chromosome 8p11 myeloproliferative syndrome SCLL Chromosome 8q21.11 deletion syndrome DEL8q21.11 Chromosome 9p deletion syndrome DEL9p Chromosome Xp11.23-p11.22 duplication syndrome DUPXp11.23p11.22 Chromosome Xp11.3 deletion syndrome DELXp11.3 Chromosome Xp21 deletion syndrome DELXp21 Chromosome Xq26.3 duplication syndrome CXDUPq26.3 Chromosome Xq27.3-q28 duplication syndrome DUPXq27.3q28 Chromosome Xq28 duplication syndrome DUPXq28 Chrondrodysplasia, acromesomelic, with genital anomalies, 609441 609441 BMPR1B Chronic atrial and intestinal dysrhythmia, 616201 616201 SGOL1 Chronic granulomatous disease due to deficiency of NCF-1, 233700 233700 NCF1 Chronic granulomatous disease due to deficiency of NCF-2, 233710 233710 NCF2 Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 233690 CYBA Chronic granulomatous disease, X-linked, 306400 306400 CYBB Chudley-McCullough syndrome, 604213 604213 GPSM2 Chylomicron retention disease, 246700 246700 SAR1B Ciliary diskinesia, primary, 29, 615872 615872 CCNO Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 244400 DNAI1 Ciliary dyskinesia, primary, 10, 612518 612518 KTU Ciliary dyskinesia, primary, 11, 612649 612649 RSPH4A Ciliary dyskinesia, primary, 12, 612650 612650 RSPH9 Ciliary dyskinesia, primary, 13, 613193 613193 LRRC50 Ciliary dyskinesia, primary, 14, 613807 613807 CCDC39 Ciliary dyskinesia, primary, 15, 613808 613808 CCDC40 Ciliary dyskinesia, primary, 16, 614017 614017 DNAL1 Ciliary dyskinesia, primary, 17, 614679 614679 CCDC103 Ciliary dyskinesia, primary, 18, 614874 614874 HEATR2 Ciliary dyskinesia, primary, 19, 614935 614935 LRRC6 Ciliary dyskinesia, primary, 2, 606763 606763 DNAAF3 Ciliary dyskinesia, primary, 20, 615067 615067 CCDC114 Ciliary dyskinesia, primary, 21, 615294 615294 DRC1 Ciliary dyskinesia, primary, 22, 615444 615444 ZMYND10 Ciliary dyskinesia, primary, 23, 615451 615451 ARMC4 Ciliary dyskinesia, primary, 24, 615481 615481 RSPH1 Ciliary dyskinesia, primary, 25, 615482 615482 DYX1C1 Ciliary dyskinesia, primary, 26, 615500 615500 C21ORF59 Ciliary dyskinesia, primary, 27, 615504 615504 CCDC65 Ciliary dyskinesia, primary, 28, 615505 615505 SPAG1 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 608644 DNAH5 Ciliary dyskinesia, primary, 30, 616037 616037 CCDC151 Ciliary dyskinesia, primary, 31, 616369 616369 CENPF Ciliary dyskinesia, primary, 4 4 CILD4 Ciliary dyskinesia, primary, 5, 608647 608647 HYDIN Ciliary dyskinesia, primary, 6, 610852 610852 NME8 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 611884 DNAH11 Ciliary dyskinesia, primary, 8 CILD8 Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 612444 DNAI2 CINCA syndrome, 607115 607115 NLRP3 Cirrhosis due to liver phosphorylase kinase deficiency PHKG2 Cirrhosis, cryptogenic, 215600 215600 KRT8 Cirrhosis, cryptogenic, 215600 215600 KRT18 Cirrhosis, North American Indian childhood type, 604901 604901 CIRH1A Citrullinemia, 215700 215700 ASS1 Citrullinemia, adult-onset type II, 603471 603471 SLC25A13 Citrullinemia, type II, neonatal-onset, 605814 605814 SLC25A13 CK syndrome, 300831 300831 NSDHL Cleft lip/palate-ectodermal dysplasia syndrome, 225060 225060 HVEC Cleft palate with ankyloglossia, 303400 303400 TBX22 Cleft palate, isolated, 119540 119540 UBB Cleidocranial dysplasia, 119600 119600 RUNX2 Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600 119600 RUNX2 Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 119600 RUNX2 Clopidogrel, impaired responsiveness to, 609535 609535 CYP2C CLOVE syndrome, somatic, 612918 612918 PIK3CA Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800 119800 PITX1 COACH syndrome, 216360 216360 TMEM67 COACH syndrome, 216360 216360 RPGRIP1L COACH syndrome, 216360 216360 CC2D2A Cockayne syndrome, type A, 216400 216400 ERCC8 Cockayne syndrome, type B, 133540 133540 ERCC6 Cocoon syndrome, 613630 613630 CHUK CODAS syndrome, 600373 600373 LONP1 Coenzyme Q10 deficiency, primary, 1, 607426 607426 COQ2 Coenzyme Q10 deficiency, primary, 2, 614651 614651 PDSS1 Coenzyme Q10 deficiency, primary, 3, 614652 614652 PDSS2 Coenzyme Q10 deficiency, primary, 4, 612016 612016 ADCK3 Coenzyme Q10 deficiency, primary, 5, 614654 614654 COQ9 Coenzyme Q10 deficiency, primary, 6, 614650 614650 COQ6 Coenzyme Q10 deficiency, primary, 7, 616276 616276 COQ4 Coffin-Lowry syndrome, 303600 303600 RPS6KA3 Cohen syndrome, 216550 216550 VPS13B Cold-induced sweating syndrome 1, 272430 272430 CRLF1 Cold-induced sweating syndrome 2, 610313 610313 CLCF1 Cole disease, 615522 615522 ENPP1 Cole-Carpenter syndrome 1, 112240 112240 P4HB Cole-Carpenter syndrome 2, 616294 616294 SEC24D Coloboma of optic nerve, 120430 120430 PAX6 Coloboma, ocular, 120200 120200 PAX6 Coloboma, ocular, 120433 120433 YAP1 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, 120433 120433 YAP1 Colon cancer, advanced, somatic SRC Colon cancer, somatic, 114500 114500 PTPN12 Colon cancer, somatic, 114500 114500 PTPRJ Colon cancer, somatic, 114500 114500 RAD54B Colorblindness, deutan, 303800 303800 OPN1MW Colorblindness, protan, 303900 303900 OPN1LW Colorblindness, tritan, 190900 190900 OPN1SW Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600 132600 MUTYH Colorectal cancer with chromosomal instability, somatic BUB1 Colorectal cancer, 114500 114500 TP53 Colorectal cancer, hereditary nonpolyposis, type 1, 120435 120435 MSH2 Colorectal cancer, hereditary nonpolyposis, type 2, 609310 609310 MLH1 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 614337 PMS2 Colorectal cancer, hereditary nonpolyposis, type 5, 614350 614350 MSH6 Colorectal cancer, hereditary nonpolyposis, type 6, 614331 614331 TGFBR2 Colorectal cancer, hereditary nonpolyposis, type 7, 614385 614385 MLH3 Colorectal cancer, hereditary nonpolyposis, type 8, 613244 613244 EPCAM Colorectal cancer, somatic BRAF Colorectal cancer, somatic DLC1 Colorectal cancer, somatic, 114500 114500 CTNNB1 Colorectal cancer, somatic, 114500 114500 DCC Colorectal cancer, somatic, 114500 114500 FGFR3 Colorectal cancer, somatic, 114500 114500 MCC Colorectal cancer, somatic, 114500 114500 AKT1 Colorectal cancer, somatic, 114500 114500 NRAS Colorectal cancer, somatic, 114500 114500 PIK3CA Colorectal cancer, somatic, 114500 114500 BAX Colorectal cancer, somatic, 114500 114500 EP300 Colorectal cancer, somatic, 114500 114500 BUB1B Colorectal cancer, somatic, 114500 114500 AXIN2 Colorectal cancer, somatic, 114500 114500 MLH3 Colorectal cancer, somatic, 114500 114500 PDGFRL Colorectal cancer, somatic, 114500 114500 FLCN Colorectal cancer, somatic, 114500 114500 APC Combined C6/C7 deficiency C6 Combined cellular and humoral immune defects with granulomas, 233650 233650 RAG1 Combined cellular and humoral immune defects with granulomas, 233650 233650 RAG2 Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 615182 SLC25A1 Combined factor V and VIII deficiency, 227300 227300 LMAN1 Combined hyperlipidemia, familial, 144250 144250 LPL Combined immunodeficiency, X-linked, moderate, 312863 312863 IL2RG Combined malonic and methylmalonic aciduria, 614265 614265 ACSF3 Combined oxidative phosphorylation deficiency 1, 609060 609060 GFM1 Combined oxidative phosphorylation deficiency 10, 614702 614702 MTO1 Combined oxidative phosphorylation deficiency 11, 614922 614922 RMND1 Combined oxidative phosphorylation deficiency 12, 614924 614924 EARS2 Combined oxidative phosphorylation deficiency 13, 614932 614932 PNPT1 Combined oxidative phosphorylation deficiency 14, 614946 614946 FARS2 Combined oxidative phosphorylation deficiency 15, 614947 614947 MTFMT Combined oxidative phosphorylation deficiency 17, 615440 615440 ELAC2 Combined oxidative phosphorylation deficiency 18, 615578 615578 SFXN4 Combined oxidative phosphorylation deficiency 2, 610498 610498 MRPS16 Combined oxidative phosphorylation deficiency 20, 615917 615917 VARS2 Combined oxidative phosphorylation deficiency 23, 616198 616198 GTPBP3 Combined oxidative phosphorylation deficiency 24, 616239 616239 NARS2 Combined oxidative phosphorylation deficiency 3, 610505 610505 TSFM Combined oxidative phosphorylation deficiency 4, 610678 610678 TUFM Combined oxidative phosphorylation deficiency 5, 611719 611719 MRPS22 Combined oxidative phosphorylation deficiency 6, 300816 300816 AIFM1 Combined oxidative phosphorylation deficiency 7, 613559 613559 C12orf65 Combined oxidative phosphorylation deficiency 8, 614096 614096 AARS2 Combined oxidative phosphorylation deficiency 9, 614582 614582 MRPL3 Combined SAP deficiency, 611721 611721 PSAP Complement component 4, partial deficiency of, 120790 120790 C1NH Complement factor D deficiency, 613912 613912 CFD Complement factor H deficiency, 609814 609814 HF1 Complement factor I deficiency, 610984 610984 CFI Complex I, mitochondrial respiratory chain, deficiency of, 252010 252010 NDUFS6 Cone dystrophy 4, 613093 613093 PDE6C Cone dystrophy, progressive X-linked, 2 2 COD2 Cone dystrophy-3, 602093 602093 GUCA1A Cone-rod dystrophy 10, 610283 610283 SEMA4A Cone-rod dystrophy 11, 610381 610381 RAXL1 Cone-rod dystrophy 12, 612657 612657 PROM1 Cone-rod dystrophy 13, 608194 608194 RPGRIP1 Cone-rod dystrophy 14, 602093 602093 GUCA1A Cone-rod dystrophy 15, 613660 613660 CDHR1 Cone-rod dystrophy 16, 614500 614500 C8orf37 Cone-rod dystrophy 17 CORD17 Cone-rod dystrophy 18, 615374 615374 RAB28 Cone-rod dystrophy 19, 615860 615860 TTLL5 Cone-rod dystrophy 20, 615973 615973 POC1B Cone-rod dystrophy 3, 604116 604116 ABCA4 Cone-rod dystrophy 5, 600977 600977 PITPNM3 Cone-rod dystrophy 6, 601777 601777 GUCY2D Cone-rod dystrophy 7, 603649 603649 RIMS1 Cone-rod dystrophy 8 CORD8 Cone-rod dystrophy 9, 612775 612775 ADAM9 Cone-rod dystrophy, 604393 604393 AIPL1 Cone-rod dystrophy, X-linked, 1, 304020 304020 RPGR Cone-rod dystropy, X-linked, 3, 300476 300476 CACNA1F Cone-rod retinal dystrophy-1 CORD1 Cone-rod retinal dystrophy-2, 120970 120970 CRX Congenital bilateral absence of vas deferens, 277180 277180 CFTR Congenital cataracts, facial dysmorphism, and neuropathy, 604168 604168 CTDP1 Congenital cataracts, hearing loss, and neurodegeneration, 614482 614482 SLC33A1 Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266 616266 NALCN Congenital disorder of glycosylation, type Ia, 212065 212065 PMM2 Congenital disorder of glycosylation, type Ib, 602579 602579 MPI Congenital disorder of glycosylation, type Ic, 603147 603147 ALG6 Congenital disorder of glycosylation, type Id, 601110 601110 ALG3 Congenital disorder of glycosylation, type Ie, 608799 608799 DPM1 Congenital disorder of glycosylation, type If, 609180 609180 MPDU1 Congenital disorder of glycosylation, type Ig, 607143 607143 ALG12 Congenital disorder of glycosylation, type Ih, 608104 608104 ALG8 Congenital disorder of glycosylation, type IIa, 212066 212066 MGAT2 Congenital disorder of glycosylation, type IIb, 606056 606056 MOGS Congenital disorder of glycosylation, type IIc, 266265 266265 SLC35C1 Congenital disorder of glycosylation, type IId, 607091 607091 B4GALT1 Congenital disorder of glycosylation, type IIe, 608779 608779 COG7 Congenital disorder of glycosylation, type IIf, 603585 603585 SLC35A1 Congenital disorder of glycosylation, type IIg, 611209 611209 COG1 Congenital disorder of glycosylation, type IIh, 611182 611182 COG8 Congenital disorder of glycosylation, type IIi, 613612 613612 COG5 Congenital disorder of glycosylation, type IIj, 613489 613489 COG4 Congenital disorder of glycosylation, type IIk, 614727 614727 TMEM165 Congenital disorder of glycosylation, type IIl, 614576 614576 COG6 Congenital disorder of glycosylation, type IIm, 300896 300896 SLC35A2 Congenital disorder of glycosylation, type Ij, 608093 608093 DPAGT1 Congenital disorder of glycosylation, type Ik, 608540 608540 ALG1 Congenital disorder of glycosylation, type Il, 608776 608776 ALG9 Congenital disorder of glycosylation, type Im, 610768 610768 TMEM15 Congenital disorder of glycosylation, type In, 612015 612015 RFT1 Congenital disorder of glycosylation, type Io, 612937 612937 DPM3 Congenital disorder of glycosylation, type Ip, 613661 613661 ALG11 Congenital disorder of glycosylation, type Iq, 612379 612379 SRD5A3 Congenital disorder of glycosylation, type Is, 300884 300884 ALG13 Congenital disorder of glycosylation, type It, 614921 614921 PGM1 Congenital disorder of glycosylation, type Iu, 615042 615042 DPM2 Congenital disorder of glycosylation, type Iv, 615273 615273 NGLY1 Congenital heart defects, multiple types, 3 3 CHDT3 Congenital heart defects, multiple types, 4, 615779 615779 NR2F2 Congenital heart defects, nonsyndromic, 1, X-linked, 306955 306955 ZIC3 Congenital heart defects, nonsyndromic, 2, 614980 614980 TAB2 Congenital myopathy with excess of muscle spindles, 218040 218040 HRAS Congenital short bowel syndrome, 300048 300048 FLNA Congenital short bowel syndrome, 615237 615237 CLMP Conotruncal anomaly face syndrome, 217095 217095 TBX1 Conotruncal heart malformations, 217095 217095 NKX2-6 Conotruncal heart malformations, variable, 217095 217095 NKX2-5 Contractural arachnodactyly, congenital, 121050 121050 FBN2 Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 602066 PRRT2 COPD, rate of decline of lung function in, 606963 606963 MMP1 Coproporphyria, 121300 121300 CPOX Cornea plana congenita, recessive, 217300 217300 KERA Corneal clouding, autosomal recessive APOA1 Corneal dystrophy, Avellino type, 607541 607541 TGFBI Corneal dystrophy, congenital stromal, 610048 610048 DCN Corneal dystrophy, endothelial, X-linked XECD Corneal dystrophy, epithelial basement membrane, 121820 121820 TGFBI Corneal dystrophy, Fuchs endothelial, 1, 136800 136800 COL8A2 Corneal dystrophy, Fuchs endothelial, 2 2 FECD2 Corneal dystrophy, Fuchs endothelial, 3 3 FECD3 Corneal dystrophy, Fuchs endothelial, 4, 613268 613268 SLC4A11 Corneal dystrophy, Fuchs endothelial, 5 5 FECD5 Corneal dystrophy, Fuchs endothelial, 6, 613270 613270 ZEB1 Corneal dystrophy, Fuchs endothelial, 7 7 FECD7 Corneal dystrophy, Fuchs endothelial, 8, 615523 615523 AGBL1 Corneal dystrophy, gelatinous drop-like, 204870 204870 TACSTD2 Corneal dystrophy, Groenouw type I, 121900 121900 TGFBI Corneal dystrophy, lattice type I, 122200 122200 TGFBI Corneal dystrophy, lattice type IIIA, 608471 608471 TGFBI Corneal dystrophy, Lisch epithelial LECD Corneal dystrophy, posterior polymorphous 2, 609140 609140 COL8A2 Corneal dystrophy, posterior polymorphous, 1, 122000 122000 VSX1 Corneal dystrophy, posterior polymorphous, 3, 609141 609141 ZEB1 Corneal dystrophy, Reis-Bucklers type, 608470 608470 TGFBI Corneal dystrophy, Schnyder type, 121800 121800 UBIAD1 Corneal dystrophy, Thiel-Behnke type CDB2 Corneal dystrophy, Thiel-Behnke type, 602082 602082 TGFBI Corneal endothelial dystrophy 1, autosomal dominant CHED1 Corneal endothelial dystrophy 2, autosomal recessive, 217700 217700 SLC4A11 Corneal endothelial dystrophy and perceptive deafness, 217400 217400 SLC4A11 Corneal fleck dystrophy, 121850 121850 PIKFYVE Corneal opacification and other ocular anomalies, 269400 269400 PXDN Cornelia de Lange syndrome 1, 122470 122470 NIPBL Cornelia de Lange syndrome 2, 300590 300590 DXS423E Cornelia de Lange syndrome 3, 610759 610759 CSPG6 Cornelia de Lange syndrome 4, 614701 614701 RAD21 Cornelia de Lange syndrome 5, 300882 300882 HDAC8 Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, 300472 300472 IGBP1 Corpus callosum, partial agenesis of, 304100 304100 L1CAM Cortical dysplasia, complex, with other brain malformations 1, 614039 614039 TUBB3 Cortical dysplasia, complex, with other brain malformations 2, 615282 615282 KIF5C Cortical dysplasia, complex, with other brain malformations 3, 615411 615411 KIF2A Cortical dysplasia, complex, with other brain malformations 4, 615412 615412 TUBG1 Cortical dysplasia, complex, with other brain malformations 5, 615763 615763 TUBB2A Cortical dysplasia, complex, with other brain malformations 6, 615771 615771 TUBB Cortical dysplasia-focal epilepsy syndrome, 610042 610042 CNTNAP2 Cortical malformations, occipital, 614115 614115 LAMC3 Corticosteroid-binding globulin deficiency, 611489 611489 CBG Cortisone reductase deficiency 1, 604931 604931 H6PD Cortisone reductase deficiency 2, 614662 614662 HSD11B1 Costello syndrome, 218040 218040 HRAS Coumarin resistance, 122700 122700 CYP2A6 Cousin syndrome, 260660 260660 TBX15 Cowchock syndrome NAMSD Cowchock syndrome, 310490 310490 AIFM1 Cowden syndrome 1, 158350 158350 PTEN Cowden syndrome 2, 612359 612359 SDHB Cowden syndrome 3, 615106 615106 SDHD Cowden syndrome 4, 615107 615107 KLLN Cowden syndrome 5, 615108 615108 PIK3CA Cowden syndrome 6, 615109 615109 AKT1 CPT deficiency, hepatic, type IA, 255120 255120 CPT1A CPT deficiency, hepatic, type II, 600649 600649 CPT2 CPT II deficiency, lethal neonatal, 608836 608836 CPT2 CR1 deficiency CR1 Craniodiaphyseal dysplasia, autosomal dominant, 122860 122860 SOST Cranioectodermal dysplasia 1, 218330 218330 IFT122 Cranioectodermal dysplasia 2, 613610 613610 WDR35 Cranioectodermal dysplasia 3, 614099 614099 IFT43 Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 614195 VSX1 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 213980 TMCO1 Craniofacial-deafness-hand syndrome, 122880 122880 PAX3 Craniofacial-skeletal-dermatologic dysplasia, 101600 101600 FGFR2 Craniofrontonasal dysplasia, 304110 304110 EFNB1 Craniolenticulosutural dysplasia, 607812 607812 SEC23A Craniometaphyseal dysplasia, 123000 123000 ANKH Craniometaphyseal dysplasia, autosomal recessive, 218400 218400 GJA1 Cranioosteoarthropathy, 259100 259100 HPGD Craniosynostosis 3, 615314 615314 TCF12 Craniosynostosis 4, 600775 600775 ERF Craniosynostosis and dental anomalies, 614188 614188 IL11RA Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 614416 CYP26B1 Craniosynostosis, Adelaide type CRSA Craniosynostosis, nonspecific FGFR2 Craniosynostosis, Philadelphia type, 185900 185900 CUP2q35 Craniosynostosis, type 1, 123100 123100 TWIST1 Craniosynostosis, type 2, 604757 604757 MSX2 CRASH syndrome, 303350 303350 L1CAM Creatine phosphokinase, elevated serum, 123320 123320 CAV3 Creatinine clearance QTL CRCL Creutzfeldt-Jakob disease, 123400 123400 PRNP Crigler-Najjar syndrome, type I, 218800 218800 UGT1A1 Crigler-Najjar syndrome, type II, 606785 606785 UGT1A1 Crouzon syndrome with acanthosis nigricans, 612247 612247 FGFR3 Crouzon syndrome, 123500 123500 FGFR2 Cryptorchidism, 219050 219050 INSL3 Cryptorchidism, 219050 219050 LGR8 Cubitus valgus with mental retardation and unusual facies CVMRF Culler-Jones syndrome, 615849 615849 GLI2 Currarino syndrome, 176450 176450 MNX1 Cushing syndrome, ACTH-independent adrenal, somatic, 615830 615830 PRKACA Cutaneous telangiectasia and cancer syndrome, familial, 614564 614564 ATR Cutis laxa, AD, 123700 123700 ELN Cutis laxa, autosomal dominant 2, 614434 614434 FBLN5 Cutis laxa, autosomal recessive, type IA, 219100 219100 FBLN5 Cutis laxa, autosomal recessive, type IB, 614437 614437 EFEMP2 Cutis laxa, autosomal recessive, type IC, 613177 613177 LTBP4 Cutis laxa, autosomal recessive, type IIA, 219200 219200 ATP6V0A2 Cutis laxa, autosomal recessive, type IIB, 612940 612940 PYCR1 Cutis laxa, autosomal recessive, type IIIA, 219150 219150 ALDH18A1 Cutis laxa, autosomal recessive, type IIIB, 614438 614438 PYCR1 Cyanosis, transient neonatal, 613977 613977 HBG2 Cylindromatosis, familial, 132700 132700 CYLD Cystathioninuria, 219500 219500 CTH Cystic fibrosis, 219700 219700 CFTR Cystinosis, atypical nephropathic, 219800 219800 CTNS Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 219900 CTNS Cystinosis, nephropathic, 219800 219800 CTNS Cystinosis, ocular nonnephropathic, 219750 219750 CTNS Cystinuria, 220100 220100 SLC3A1 Cystinuria, 220100 220100 SLC7A9 Czech dysplasia, 609162 609162 COL2A1 D-2-hydroxyglutaric aciduria 2, 613657 613657 IDH2 D-2-hydroxyglutaric aciduria, 600721 600721 D2HGDH Dandy-Walker syndrome DWS Danon disease, 300257 300257 LAMP2 Darier disease, 124200 124200 ATP2A2 D-bifunctional protein deficiency, 261515 261515 HSD17B4 De la Chapelle dysplasia, 256050 256050 SLC26A2 De Sanctis-Cacchione syndrome, 278800 278800 ERCC6 Deafness , autosomal recessive 86, 614617 614617 TBC1D24 Deafness and male infertility DEL15q15.3 Deafness and myopia, 221200 221200 SLITRK6 Deafness, autosomal dominant 1, 124900 124900 DIAPH1 Deafness, autosomal dominant 10, 601316 601316 EYA4 Deafness, autosomal dominant 11, 601317 601317 MYO7A Deafness, autosomal dominant 13, 601868 601868 COL11A2 Deafness, autosomal dominant 15, 602459 602459 POU4F3 Deafness, autosomal dominant 16 DFNA16 Deafness, autosomal dominant 17, 603622 603622 MYH9 Deafness, autosomal dominant 18 DFNA18 Deafness, autosomal dominant 20/26, 604717 604717 ACTG1 Deafness, autosomal dominant 21 DFNA21 Deafness, autosomal dominant 22, 606346 606346 MYO6 Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346 606346 MYO6 Deafness, autosomal dominant 23, 605192 605192 SIX1 Deafness, autosomal dominant 24 DFNA24 Deafness, autosomal dominant 25, 605583 605583 SLC17A8 Deafness, autosomal dominant 27 DFNA27 Deafness, autosomal dominant 28, 608641 608641 GRHL2 Deafness, autosomal dominant 2A, 600101 600101 KCNQ4 Deafness, autosomal dominant 2B, 612644 612644 GJB3 Deafness, autosomal dominant 30 DFNA30 Deafness, autosomal dominant 31 DFNA31 Deafness, autosomal dominant 33 DFNA33 Deafness, autosomal dominant 36, 606705 606705 TMC1 Deafness, autosomal dominant 39, with dentinogenesis, 605594 605594 DSPP Deafness, autosomal dominant 3A, 601544 601544 GJB2 Deafness, autosomal dominant 3B, 612643 612643 GJB6 Deafness, autosomal dominant 40, 616357 616357 CRYM Deafness, autosomal dominant 41, 608224 608224 P2RX2 Deafness, autosomal dominant 43 DFNA43 Deafness, autosomal dominant 44, 607453 607453 CCDC50 Deafness, autosomal dominant 47 DFNA47 Deafness, autosomal dominant 48, 607841 607841 MYO1A Deafness, autosomal dominant 49 DFNA49 Deafness, autosomal dominant 4A, 600652 600652 MYH14 Deafness, autosomal dominant 5, 600994 600994 DFNA5 Deafness, autosomal dominant 50, 613074 613074 MIR96 Deafness, autosomal dominant 51 DFNA51 Deafness, autosomal dominant 52 DFNA52 Deafness, autosomal dominant 53 DFNA53 Deafness, autosomal dominant 54 DFNA54 Deafness, autosomal dominant 56, 615629 615629 TNC Deafness, autosomal dominant 58 DFNA58 Deafness, autosomal dominant 59 DFNA59 Deafness, autosomal dominant 6/14/38, 600965 600965 WFS1 Deafness, autosomal dominant 64, 614152 614152 SMAC Deafness, autosomal dominant 65, 616044 616044 TBC1D24 Deafness, autosomal dominant 67, 616340 616340 OSBPL2 Deafness, autosomal dominant 7 DFNA7 Deafness, autosomal dominant 8/12, 601543 601543 TECTA Deafness, autosomal dominant 9, 601369 601369 COCH Deafness, autosomal dominant, with peripheral neuropathy GJB3 Deafness, autosomal recessive GJB3 Deafness, autosomal recessive 12, 601386 601386 CDH23 Deafness, autosomal recessive 13 DFNB13 Deafness, autosomal recessive 14 DFNB14 Deafness, autosomal recessive 15, 601869 601869 GIPC3 Deafness, autosomal recessive 16, 603720 603720 STRC Deafness, autosomal recessive 17 DFNB17 Deafness, autosomal recessive 18A, 602092 602092 USH1C Deafness, autosomal recessive 18B, 614945 614945 OTOG Deafness, autosomal recessive 1A, 220290 220290 GJB2 Deafness, autosomal recessive 1B, 612645 612645 GJB6 Deafness, autosomal recessive 2, 600060 600060 MYO7A Deafness, autosomal recessive 20 DFNB20 Deafness, autosomal recessive 21, 603629 603629 TECTA Deafness, autosomal recessive 22, 607039 607039 OTOA Deafness, autosomal recessive 23, 609533 609533 PCDH15 Deafness, autosomal recessive 24, 611022 611022 RDX Deafness, autosomal recessive 25, 613285 613285 GRXCR1 Deafness, autosomal recessive 26 DFNB26 Deafness, autosomal recessive 27 DFNB27 Deafness, autosomal recessive 28, 609823 609823 TRIOBP Deafness, autosomal recessive 29, 614035 614035 CLDN14 Deafness, autosomal recessive 3, 600316 600316 MYO15A Deafness, autosomal recessive 30, 607101 607101 MYO3A Deafness, autosomal recessive 31, 607084 607084 WHRN Deafness, autosomal recessive 32 DFNB32 Deafness, autosomal recessive 33 DFNB33 Deafness, autosomal recessive 35, 608565 608565 ESRRB Deafness, autosomal recessive 36, 609006 609006 ESPN Deafness, autosomal recessive 37, 607821 607821 MYO6 Deafness, autosomal recessive 38 DFNB38 Deafness, autosomal recessive 39, 608265 608265 HGF Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791 600791 SLC26A4 Deafness, autosomal recessive 40 DFNB40 Deafness, autosomal recessive 42, 609646 609646 ILDR1 Deafness, autosomal recessive 45 DFNB45 Deafness, autosomal recessive 46 DFNB46 Deafness, autosomal recessive 48, 609439 609439 CIB2 Deafness, autosomal recessive 49, 610153 610153 MARVELD2 Deafness, autosomal recessive 5 DFNB5 Deafness, autosomal recessive 51 DFNB51 Deafness, autosomal recessive 53, 609706 609706 COL11A2 Deafness, autosomal recessive 55 DFNB55 Deafness, autosomal recessive 59, 610220 610220 PJVK Deafness, autosomal recessive 6, 600971 600971 TMIE Deafness, autosomal recessive 61, 613865 613865 SLC26A5 Deafness, autosomal recessive 62 DFNB62 Deafness, autosomal recessive 63, 611451 611451 LRTOMT Deafness, autosomal recessive 65 DFNB65 Deafness, autosomal recessive 66 DFNB66 Deafness, autosomal recessive 67, 610265 610265 LHFPL5 Deafness, autosomal recessive 68 DFNB68 Deafness, autosomal recessive 7, 600974 600974 TMC1 Deafness, autosomal recessive 70, 614934 614934 PNPT1 Deafness, autosomal recessive 71 DFNB71 Deafness, autosomal recessive 74, 613718 613718 MSRB3 Deafness, autosomal recessive 76, 615540 615540 SYNE4 Deafness, autosomal recessive 77, 613079 613079 LOXHD1 Deafness, autosomal recessive 79, 613307 613307 TPRN Deafness, autosomal recessive 8/10, 601072 601072 TMPRSS3 Deafness, autosomal recessive 83 DFNB83 Deafness, autosomal recessive 84A, 613391 613391 PTPRQ Deafness, autosomal recessive 84B, 614944 614944 OTOGL Deafness, autosomal recessive 85 DFNB85 Deafness, autosomal recessive 89, 613916 613916 KARS Deafness, autosomal recessive 9, 601071 601071 OTOF Deafness, autosomal recessive 93, 614899 614899 CABP2 Deafness, autosomal recessive 96 DFNB96 Deafness, autosomal recessive 98, 614861 614861 TSPEAR Deafness, cataract, retinitis pigmentosa, and sperm abnormalities DFCTRPS Deafness, congenital heart defects, and posterior embryotoxon JAG1 Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 610706 FGF3 Deafness, digenic GJB2/GJB6, 220290 220290 GJB6 Deafness, digenic, GJB2/GJB3, 220290 220290 GJB3 Deafness, dystonia, and cerebral hypomyelination, 300475 300475 BCAP31 Deafness, neurosensory, autosomal recessive 47 DFNB47 Deafness, neurosensory, without vestibular involvement, autosomal dominant ESPN Deafness, X-linked 1, 304500 304500 PRPS1 Deafness, X-linked 1, progressive TIMM8A Deafness, X-linked 2, 304400 304400 POU3F4 Deafness, X-linked 3 DFNX3 Deafness, X-linked 4, 300066 300066 SMPX Deafness, X-linked 5 DFNX5 Deafness, Y-linked 1 DFNY1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 194380 PIEZO1 Dejerine-Sottas disease, 145900 145900 EGR2 Dejerine-Sottas disease, 145900 145900 MPZ Dejerine-Sottas disease, 145900 145900 PMP22 Dejerine-Sottas disease, 145900 145900 PRX Delta-beta thalassemia, 141749 141749 HBB Dementia, familial British, 176500 176500 ITM2B Dementia, familial Danish, 117300 117300 ITM2B Dementia, familial, nonspecific, 600795 600795 CHMP2B Dementia, frontotemporal, 600274 600274 PSEN1 Dementia, frontotemporal, with or without parkinsonism, 600274 600274 MAPT Dementia, Lewy body, 127750 127750 SNCA Dementia, Lewy body, 127750 127750 SNCB Dent disease 2, 300555 300555 OCRL Dent disease, 300009 300009 CLCN5 Dentatorubro-pallidoluysian atrophy, 125370 125370 ATN1 Dentin dysplasia, type I, with microdontia and misshapen teeth, 125400 125400 SMOC2 Dentin dysplasia, type II, 125420 125420 DSPP Dentinogenesis imperfecta, Shields type II, 125490 125490 DSPP Dentinogenesis imperfecta, Shields type III, 125500 125500 DSPP Denys-Drash syndrome, 194080 194080 WT1 Dermatitis, atopic, 8 ATOD8 Dermatitis, atopic, 9 ATOD9 Dermatofibrosarcoma protuberans, 607907 607907 PDGFB Dermatopathia pigmentosa reticularis, 125595 125595 KRT14 Dermoids of cornea CND Desbuquois dysplasia 2, 615777 615777 XYLT1 Desbuquois dysplasia, 251450 251450 CANT1 Desmoid disease, hereditary, 135290 135290 APC Desmosterolosis, 602398 602398 DHCR24 Developmental dysplasia of the hip 1 DDH1 Developmental dysplasia of the hip 2 DDH2 D-glyceric aciduria, 220120 220120 GLYCTK Diabetes insipidus, nephrogenic, 125800 125800 AQP2 Diabetes insipidus, nephrogenic, 304800 304800 AVPR2 Diabetes insipidus, neurohypophyseal, 125700 125700 AVP Diabetes mellitus, gestational, 125851 125851 GCK Diabetes mellitus, insulin-dependent, 2, 125852 125852 INS Diabetes mellitus, insulin-dependent, 20, 612520 612520 HNF1A Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 610549 INSR Diabetes mellitus, ketosis-prone, 612227 612227 PAX4 Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 610199 GLIS3 Diabetes mellitus, noninsulin-dependent, 125853 125853 HNF1B Diabetes mellitus, noninsulin-dependent, 125853 125853 ABCC8 Diabetes mellitus, noninsulin-dependent, 2 2 NIDDM2 Diabetes mellitus, noninsulin-dependent, late onset, 125853 125853 GCK Diabetes mellitus, permanent neonatal, 606176 606176 GCK Diabetes mellitus, permanent neonatal, 606176 606176 INS Diabetes mellitus, permanent neonatal, 606176 606176 ABCC8 Diabetes mellitus, permanent neonatal, with neurologic features, 606176 606176 KCNJ11 Diabetes mellitus, transient neonatal 2, 610374 610374 ABCC8 Diabetes mellitus, transient neonatal, 1, 601410 601410 ZFP57 Diabetes mellitus, transient neonatal, 3, 610582 610582 KCNJ11 Diabetes mellitus, type 2, 125853 125853 PAX4 Diabetes mellitus, type II, 125853 125853 AKT2 Diabetes, permanent neonatal, 606176 606176 KCNJ11 Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 606164 RPS28 Diamond-Blackfan anemia 1, 105650 105650 RPS19 Diamond-Blackfan anemia 10, 613309 613309 RPS26 Diamond-Blackfan anemia 13, 615909 615909 RPS29 Diamond-Blackfan anemia 2 DBA2 Diamond-blackfan anemia 3, 610629 610629 RPS24 Diamond-Blackfan anemia 4, 612527 612527 RPS17 Diamond-Blackfan anemia 5, 612528 612528 RPL35A Diamond-Blackfan anemia 6, 612561 612561 RPL5 Diamond-Blackfan anemia 7, 612562 612562 RPL11 Diamond-Blackfan anemia 8, 612563 612563 RPS7 Diamond-Blackfan anemia 9, 613308 613308 RPS10 Diaphanospondylodysostosis, 608022 608022 BMPER Diaphragmatic hernia 3, 610187 610187 ZFPM2 Diaphyseal medullary stenosis with malignant fibrous histiocytoma DMSMFH Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 112250 MTAP Diarrhea 1, secretory chloride, congenital, 214700 214700 SLC26A3 Diarrhea 3, secretory sodium, congenital, syndromic, 270420 270420 SPINT2 Diarrhea 4, malabsorptive, congenital, 610370 610370 NEUROG3 Diarrhea 5, with tufting enteropathy, congenital, 613217 613217 EPCAM Diarrhea 6, 614616 614616 GUCY2C Diastrophic dysplasia, 222600 222600 SLC26A2 Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 222600 SLC26A2 Dicarboxylic aminoaciduria, 222730 222730 SLC1A1 DiGeorge syndrome, 188400 188400 TBX1 DiGeorge syndrome/velocardiofacial syndrome complex-2 DGCR2 Digital arthropathy-brachydactyly, familial, 606835 606835 TRPV4 Digital clubbing, isolated congenital, 119900 119900 HPGD Dihydrolipoamide dehydrogenase deficiency, 246900 246900 DLD Dihydropyrimidine dehydrogenase deficiency, 274270 274270 DPYD Dihydropyrimidinuria, 222748 222748 DPYS Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 615821 DSP Dimethylglycine dehydrogenase deficiency, 605850 605850 DMGDH Diphenylhydantoin toxicity EPHX1 Disease_Name Disease_Number Gene Sybmbol Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 613571 POR DNA ligase I deficiency LIG1 DNA topoisomerase I, camptothecin-resistant TOP1 DNA topoisomerase II, resistance to inhibition of, by amsacrine TOP2A Donnai-Barrow syndrome, 222448 222448 LRP2 DOOR syndrome, 220500 220500 TBC1D24 Dopamine beta-hydroxylase deficiency, 223360 223360 DBH Dopamine receptor D2, reduced brain density of ANKK1 Double-outlet right ventricle, 217095 217095 GDF1 Double-outlet right ventricle, 217095 217095 CFC1 Dowling-Degos disease 1, 179850 179850 KRT5 Dowling-Degos disease 2, 615327 615327 POFUT1 Dowling-Degos disease 3 DDD3 Dowling-Degos disease 4, 615696 615696 POGLUT1 Down syndrome DCR Doyne honeycomb degeneration of retina, 126600 126600 EFEMP1 Dravet syndrome, 607208 607208 SCN1A Du Pan syndrome, 228900 228900 GDF5 Duane retraction syndrome 1 DURS1 Duane retraction syndrome 2, 604356 604356 CHN1 Duane-radial ray syndrome, 607323 607323 SALL4 Dubin-Johnson syndrome, 237500 237500 ABCC2 Duchenne muscular dystrophy, 310200 310200 DMD Dupuytren contracture 1 DUPC1 Dursun syndrome, 612541 612541 G6PC3 Dyggve-Melchior-Clausen disease, 223800 223800 DYM Dysautonomia, familial, 223900 223900 IKBKAP Dyschromatosis symmetrica hereditaria, 127400 127400 ADAR Dyschromatosis universalis hereditaria 1 DUH1 Dyschromatosis universalis hereditaria 2 DUH2 Dyschromatosis universalis hereditaria 3, 615402 615402 ABCB6 Dyserythropoietic anemia, congenital, type Ia, 224120 224120 CDAN1 Dyserythropoietic anemia, congenital, type Ib, 615631 615631 C15orf41 Dyserythropoietic anemia, congenital, type II, 224100 224100 SEC23B Dyserythropoietic anemia, congenital, type III CDAN3 Dyserythropoietic anemia, congenital, type IV, 613673 613673 KLF1 Dysfibrinogenemia, congenital, 616004 616004 FGA Dysfibrinogenemia, congenital, 616004 616004 FGB Dysfibrinogenemia, congenital, 616004 616004 FGG Dyskeratosis congenita, autosomal dominant 1, 127550 127550 TERC Dyskeratosis congenita, autosomal dominant 3, 613990 613990 TINF2 Dyskeratosis congenita, autosomal dominant 4, 615190 615190 RTEL1 Dyskeratosis congenita, autosomal recessive 1, 224230 224230 NOLA3 Dyskeratosis congenita, autosomal recessive 2, 613987 613987 NOLA2 Dyskeratosis congenita, autosomal recessive 3, 613988 613988 WRAP53 Dyskeratosis congenita, autosomal recessive 5, 615190 615190 RTEL1 Dyskeratosis congenita, autosomal recessive, 6, 616353 616353 PARN Dyskeratosis congenita, X-linked, 305000 305000 DKC1 Dyskeratosis, hereditary benign intraepithelial DKBI Dyskinesia, familial, with facial myokymia, 606703 606703 ADCY5 Dysplasminogenemia, 217090 217090 PLG Dysprothrombinemia, 613679 613679 F2 Dyssegmental dysplasia, Silverman-Handmaker type, 224410 224410 HSPG2 Dystonia 13, torsion DYT13 Dystonia 16, 612067 612067 PRKRA Dystonia 21 DYT21 Dystonia 24, 615034 615034 ANO3 Dystonia 25, 615073 615073 GNAL Dystonia 4, torsion, autosomal dominant, 128101 128101 TUBB4A Dystonia 6, torsion, 602629 602629 THAP1 Dystonia 9, 601042 601042 SLC2A1 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 612716 SPR Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 128230 GCH1 Dystonia, early-onset atypical, with myoclonic features DYT1 Dystonia, juvenile-onset, 607371 607371 ACTB Dystonia, myoclonic, 159900 159900 DRD2 Dystonia, primary cervical DRD5 Dystonia-1, torsion, 128100 128100 DYT1 Dystonia-11, myoclonic, 159900 159900 SGCE Dystonia-12, 128235 128235 ATP1A3 Dystonia-15, myoclonic DYT15 Dystonia-17, primary torsion DYT17 Dystonia-7, torsion DYT7 Dystonia-Parkinsonism, X-linked, 314250 314250 TAF1 EBD inversa, 226600 226600 COL7A1 EBD, Bart type, 132000 132000 COL7A1 EBD, localisata variant COL7A1 Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 305100 ED1 Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490 129490 EDAR Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 224900 EDAR Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 614940 EDARADD Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941 614941 EDARADD Ectodermal dysplasia 2, Clouston type, 129500 129500 GJB6 Ectodermal dysplasia 3, Witkop type, 189500 189500 MSX1 Ectodermal dysplasia 4, hair/nail type, 602032 602032 KRT85 Ectodermal dysplasia 5, hair/nail type ECTD5 Ectodermal dysplasia 6, hair/nail type ECTD6 Ectodermal dysplasia 8, hair/tooth/nail type ECTD8 Ectodermal dysplasia 9, hair/nail type, 614931 614931 HOXC13 Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, 612132 612132 NFKBIA Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 225280 CDH3 Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291 300291 IKBKG Ectodermal dysplasia/short stature syndrome, 616029 616029 GRHL2 Ectodermal dysplasia/skin fragility syndrome, 604536 604536 PKP1 Ectodermal dysplasia-syndactyly syndrome 1, 613573 613573 PVRL4 Ectodermal dysplasia-syndactyly syndrome 2 EDSS2 Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 300301 IKBKG Ectopia lentis et pupillae, 225200 225200 ADAMTSL4 Ectopia lentis, familial, 129600 129600 FBN1 Ectopia lentis, isolated, autosomal recessive, 225100 225100 ADAMTSL4 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292 604292 TP63 EDICT syndrome, 614303 614303 MIR184 Efavirenz, poor metabolism of, 614546 614546 CYP2B6 Ehlers-Danlos syndrome due to tenascin X deficiency, 606408 606408 TNXB Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557 614557 FKBP14 Ehlers-Danlos syndrome, cardiac valvular form, 225320 225320 COL1A2 Ehlers-Danlos syndrome, classic type, 130000 130000 COL5A2 Ehlers-Danlos syndrome, classic type, 130000 130000 COL5A1 Ehlers-Danlos syndrome, classic, 130000 130000 COL1A1 Ehlers-Danlos syndrome, musculocontractural type 1, 601776 601776 CHST14 Ehlers-Danlos syndrome, progeroid type, 1, 130070 130070 B4GALT7 Ehlers-Danlos syndrome, progeroid type, 2, 615349 615349 B3GALT6 Ehlers-Danlos syndrome, type III, 130020 130020 COL3A1 Ehlers-Danlos syndrome, type IV, 130050 130050 COL3A1 Ehlers-Danlos syndrome, type VI, 225400 225400 PLOD1 Ehlers-Danlos syndrome, type VIIA, 130060 130060 COL1A1 Ehlers-Danlos syndrome, type VIIB, 130060 130060 COL1A2 Ehlers-Danlos syndrome, type VIIC, 225410 225410 ADAMTS2 Ehlers-Danlos syndrome, type VIII EDS8 Eiken syndrome, 600002 600002 PTHR1 Elliptocytosis-1, 611804 611804 EPB41 Elliptocytosis-2, 130600 130600 SPTA1 Elliptocytosis-3 SPTB Ellis-van Creveld syndrome, 225500 225500 EVC Ellis-van Creveld syndrome, 225500 225500 LBN Emanuel syndrome DER22t11-22 Emberger syndrome, 614038 614038 GATA2 Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 310300 EMD Emery-Dreifuss muscular dystrophy 2, AD, 181350 181350 LMNA Emery-Dreifuss muscular dystrophy 3, AR, 181350 181350 LMNA Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 612998 SYNE1 Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 612999 SYNE2 Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 300696 FHL1 Emery-Dreifuss muscular dystrophy 7, AD, 614302 614302 TMEM43 Emphysema due to AAT deficiency, 613490 613490 SERPINA1 Emphysema-cirrhosis, due to AAT deficiency, 613490 613490 SERPINA1 Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 614388 DNM1L Encephalopathy, familial, with neuroserpin inclusion bodies, 604218 604218 SERPINI1 Encephalopathy, neonatal severe, 300673 300673 MECP2 Encephalopathy, progressive, with or without lipodystrophy, 615924 615924 BSCL2 Endocrine-cerebroosteodysplasia, 612651 612651 ICK Endometrial cancer, familial, 608089 608089 MSH6 Endometrial carcinoma, somatic MSH3 Endometrial carcinoma, somatic, 608089 608089 CDH1 Endometrial carcinoma, somatic, 608089 608089 PTEN Endotoxin hyporesponsiveness TLR4 Enhanced S-cone syndrome, 268100 268100 NR2E3 Enlarged vestibular aqueduct, 600791 600791 FOXI1 Enlarged vestibular aqueduct, digenic, 600791 600791 KCNJ10 Enolase deficiency ENO1 Enterokinase deficiency, 226200 226200 PRSS7 Enuresis, nocturnal, 1 1 ENUR1 Enuresis, nocturnal, 2 2 ENUR2 Eosinophil peroxidase deficiency, 261500 261500 EPX Eosinophilia, familial EOS Epidermal nevus, somatic, 162900 162900 NRAS Epidermodysplasia verruciformis, 226400 226400 TMC6 Epidermodysplasia verruciformis, 226400 226400 TMC8 Epidermolysis bullosa dystrophica, AD, 131750 131750 COL7A1 Epidermolysis bullosa dystrophica, AR, 226600 226600 COL7A1 Epidermolysis bullosa of hands and feet, 131800 131800 ITGB4 Epidermolysis bullosa pruriginosa, 604129 604129 COL7A1 Epidermolysis bullosa simplex with pyloric atresia, 612138 612138 PLEC1 Epidermolysis bullosa simplex, Dowling-Meara type, 131760 131760 KRT5 Epidermolysis bullosa simplex, Dowling-Meara type, 131760 131760 KRT14 Epidermolysis bullosa simplex, Koebner type, 131900 131900 KRT5 Epidermolysis bullosa simplex, Koebner type, 131900 131900 KRT14 Epidermolysis bullosa simplex, Ogna type, 131950 131950 PLEC1 Epidermolysis bullosa simplex, recessive 1, 601001 601001 KRT5 Epidermolysis bullosa simplex, recessive 1, 601001 601001 KRT14 Epidermolysis bullosa simplex, sutosomal recessive 2, 615425 615425 DST Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 131800 KRT5 Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 131800 KRT14 Epidermolysis bullosa simplex-MP, 131960 131960 KRT5 Epidermolysis bullosa, generalized atrophic benign, 226650 226650 LAMA3 Epidermolysis bullosa, junctional, Herlitz type, 226700 226700 LAMC2 Epidermolysis bullosa, junctional, Herlitz type, 226700 226700 LAMB3 Epidermolysis bullosa, junctional, Herlitz type, 226700 226700 LAMA3 Epidermolysis bullosa, junctional, non-Herlitz type, 226650 226650 COL17A1 Epidermolysis bullosa, junctional, non-Herlitz type, 226650 226650 ITGB4 Epidermolysis bullosa, junctional, non-Herlitz type, 226650 226650 LAMC2 Epidermolysis bullosa, junctional, non-Herlitz type, 226650 226650 LAMB3 Epidermolysis bullosa, junctional, with pyloric atresia, 226730 226730 ITGB4 Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 226730 ITGA6 Epidermolysis bullosa, lethal acantholytic, 609638 609638 DSP Epidermolysis bullosa, nonspecific, autosomal recessive, 615028 615028 EXPH5 Epidermolysis bullosa, pretibial, 131850 131850 COL7A1 Epidermolytic hyperkeratosis, 113800 113800 KRT1 Epidermolytic hyperkeratosis, 113800 113800 KRT10 Epidermylysis bullosa simplex-MCR, 609352 609352 KRT5 Epilepsy, childhood absence, 1 1 ECA1 Epilepsy, familial adult myoclonic, 4 4 FAME4 Epilepsy, familial focal, with variable foci, 604364 604364 DEPDC5 Epilepsy, familial temporal lobe, 1, 600512 600512 LGI1 Epilepsy, familial temporal lobe, 2 2 ETL2 Epilepsy, familial temporal lobe, 3 3 ETL3 Epilepsy, familial temporal lobe, 4 4 ETL4 Epilepsy, familial temporal lobe, 5, 614417 614417 CPA6 Epilepsy, familial temporal lobe, 6 6 ETL6 Epilepsy, focal, with speech disorder and with or without mental retardation, 245570 245570 GRIN2A Epilepsy, generalized, with febrile seizures plus, type 1, 604233 604233 SCN1B Epilepsy, generalized, with febrile seizures plus, type 2, 604403 604403 SCN1A Epilepsy, generalized, with febrile seizures plus, type 3, 611277 611277 GABRG2 Epilepsy, generalized, with febrile seizures plus, type 4 GEFSP4 Epilepsy, generalized, with febrile seizures plus, type 6 GEFSP6 Epilepsy, generalized, with febrile seizures plus, type 7, 613863 613863 SCN9A Epilepsy, hot water, 1 1 HWE1 Epilepsy, hot water, 2 2 HWE2 Epilepsy, juvenile myoclonic EIG7 Epilepsy, juvenile myoclonic 3 EJM3 Epilepsy, myoclonic, adult familial, 1 1 FAME1 Epilepsy, myoclonic, adult familial, 2 2 FAME2 Epilepsy, myoclonic, familial adult, 3 3 FAME3 Epilepsy, nocturnal frontal lobe, 1, 600513 600513 CHRNA4 Epilepsy, nocturnal frontal lobe, 3, 605375 605375 CHRNB2 Epilepsy, nocturnal frontal lobe, 5, 615005 615005 KCNT1 Epilepsy, nocturnal frontal lobe, type 2 ENFL2 Epilepsy, nocturnal frontal lobe, type 4, 610353 610353 CHRNA2 Epilepsy, partial, with pericentral spikes EPPS Epilepsy, progressive myoclonic 1A CSTB Epilepsy, progressive myoclonic 1B, 612437 612437 PRICKLE1 Epilepsy, progressive myoclonic 2A EPM2A Epilepsy, progressive myoclonic 2B NHLRC1 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 611726 KCTD7 Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 254900 SCARB2 Epilepsy, progressive myoclonic 5, 613832 613832 PRICKLE2 Epilepsy, progressive myoclonic 6, 614018 614018 GOSR2 Epilepsy, progressive myoclonic 7, 616187 616187 KCNC1 Epilepsy, pyridoxine-dependent, 266100 266100 ALDH7A1 Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp EPRPDC Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 300491 SYN1 Epileptic encephalopathy, childhood-onset, 615369 615369 CHD2 Epileptic encephalopathy, early infantile, 1, 308350 308350 ARX Epileptic encephalopathy, early infantile, 11, 613721 613721 SCN2A Epileptic encephalopathy, early infantile, 12, 613722 613722 PLCB1 Epileptic encephalopathy, early infantile, 13, 614558 614558 SCN8A Epileptic encephalopathy, early infantile, 14, 614959 614959 KCNT1 Epileptic encephalopathy, early infantile, 15, 615006 615006 ST3GAL3 Epileptic encephalopathy, early infantile, 16, 615338 615338 TBC1D24 Epileptic encephalopathy, early infantile, 17, 615473 615473 GNAO1 Epileptic encephalopathy, early infantile, 18, 615476 615476 SZT2 Epileptic encephalopathy, early infantile, 19, 615744 615744 GABRA1 Epileptic encephalopathy, early infantile, 2, 300672 300672 CDKL5 Epileptic encephalopathy, early infantile, 23, 615859 615859 DOCK7 Epileptic encephalopathy, early infantile, 24, 615871 615871 HCN1 Epileptic encephalopathy, early infantile, 25, 615905 615905 SLC13A5 Epileptic encephalopathy, early infantile, 26, 616056 616056 KCNB1 Epileptic encephalopathy, early infantile, 27, 616139 616139 GRIN2B Epileptic encephalopathy, early infantile, 28, 616211 616211 WWOX Epileptic encephalopathy, early infantile, 29, 616339 616339 AARS Epileptic encephalopathy, early infantile, 3, 609304 609304 SLC25A22 Epileptic encephalopathy, early infantile, 30, 616341 616341 SIK1 Epileptic encephalopathy, early infantile, 31, 616346 616346 DNM1 Epileptic encephalopathy, early infantile, 32, 616366 616366 KCNA2 Epileptic encephalopathy, early infantile, 4, 612164 612164 STXBP1 Epileptic encephalopathy, early infantile, 5, 613477 613477 SPTAN1 Epileptic encephalopathy, early infantile, 7, 613720 613720 KCNQ2 Epileptic encephalopathy, early infantile, 8, 300607 300607 ARHGEF9 Epileptic encephalopathy, early infantile, 9, 300088 300088 PCDH19 Epilespy, generalized, with febrile seizures plus, type 8 GEFSP8 Epiphyseal chondrodysplasia, Miura type, 615923 615923 NPR2 Epiphyseal dysplasia, multiple 1, 132400 132400 COMP Epiphyseal dysplasia, multiple, 2, 600204 600204 COL9A2 Epiphyseal dysplasia, multiple, 3, 600969 600969 COL9A3 Epiphyseal dysplasia, multiple, 4, 226900 226900 SLC26A2 Epiphyseal dysplasia, multiple, 5, 607078 607078 MATN3 Epiphyseal dysplasia, multiple, with myopathy COL9A3 Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 132450 COL2A1 Episodic ataxia, type 2, 108500 108500 CACNA1A Episodic ataxia, type 3 EA3 Episodic ataxia, type 5, 613855 613855 CACNB4 Episodic ataxia, type 6, 612656 612656 SLC1A3 Episodic ataxia, type 7 EA7 Episodic ataxia, type 8 EA8 Episodic ataxia/myokymia syndrome, 160120 160120 KCNA1 Episodic kinesigenic dyskinesia 1, 128200 128200 PRRT2 Episodic kinesigenic dyskinesia 2 EKD2 Episodic muscle weakness, X-linked EMWX Episodic pain syndrome, familial, 2, 615551 615551 SCN10A Episodic pain syndrome, familial, 3, 615552 615552 SCN11A Episodic pain syndrome, familial, 615040 615040 TRPA1 Epsilon-trimethyllysine hydroxylase deficiency, 300872 300872 TMLHE Epstein syndrome, 153650 153650 MYH9 Erythermalgia, primary, 133020 133020 SCN9A Erythremias, alpha- HBA1 Erythremias, beta- HBB Erythrocyte lactate transporter defect, 245340 245340 SLC16A1 Erythrocytosis HBA2 Erythrocytosis due to bisphosphoglycerate mutase deficiency, 222800 222800 BPGM Erythrocytosis, familial, 2, 263400 263400 VHL Erythrocytosis, familial, 3, 609820 609820 EGLN1 Erythrocytosis, familial, 4, 611783 611783 EPAS1 Erythrocytosis, somatic, 133100 133100 JAK2 Erythrocytosis, somatic, 133100 133100 SH2B3 Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 615508 DSG1 Erythrokeratodermia variabilis et progressiva, 133200 133200 GJB3 Erythrokeratodermia variabilis with erythema gyratum repens, 133200 133200 GJB4 Escobar syndrome, 265000 265000 CHRNG Esophageal cancer, 133239 133239 DLEC1 Esophageal cancer, somatic, 133239 133239 TGFBR2 Esophageal carcinoma, somatic 133239 DCC Esophageal carcinoma, somatic, 133239 133239 RNF6 Esophageal squamous cell carcinoma, 133239 133239 DEC1 Esophageal squamous cell carcinoma, 133239 133239 LZTS1 Esophageal squamous cell carcinoma, somatic, 133239 133239 WWOX Estrogen resistance, 615363 615363 ESR1 Ethylmalonic encephalopathy, 602473 602473 ETHE1 Ewing sarcoma, 612219 612219 EWSR1 Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of Siemens-like, 607936 607936 CSTA Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 612714 COX4I2 Exostoses, multiple, type 1, 133700 133700 EXT1 Exostoses, multiple, type 2, 133701 133701 EXT2 Exostoses, multiple, type 3 EXT3 Exudative vitreoretinopathy 1, 133780 133780 FZD4 Exudative vitreoretinopathy 2, X-linked, 305390 305390 NDP Exudative vitreoretinopathy 3 EVR3 Exudative vitreoretinopathy 4, 601813 601813 LRP5 Exudative vitreoretinopathy 5, 613310 613310 TSPAN12 Fabry disease, 301500 301500 GLA Fabry disease, cardiac variant, 301500 301500 GLA Facial paresis, hereditary congenital, 1 1 HCFP1 Facial paresis, hereditary congenital, 2 2 HCFP2 Facial paresis, hereditary congenital, 3, 614744 614744 HOXB1 Facioscapulohumeral muscular dystrophy 1 FSHD1 Factor V and factor VIII, combined deficiency of, 613625 613625 MCFD2 Factor V deficiency, 227400 227400 F5 Factor VII deficiency, 227500 227500 F7 Factor X deficiency, 227600 227600 F10 Factor XI deficiency, autosomal dominant, 612416 612416 F11 Factor XI deficiency, autosomal recessive, 612416 612416 F11 Factor XII deficiency, 234000 234000 F12 Factor XIIIA deficiency, 613225 613225 F13A1 Factor XIIIB deficiency, 613235 613235 F13B Failure of tooth eruption, primary, 125350 125350 PTHR1 Familial cold autoinflammatory syndrome 2, 611762 611762 NLRP12 Familial cold autoinflammatory syndrome 3, 614468 614468 PLCG2 Familial cold-induced inflammatory syndrome 1, 120100 120100 NLRP3 Familial Mediterranean fever, AD, 134610 134610 MEFV Familial Mediterranean fever, AR, 249100 249100 MEFV Fanconi anemia, complementation group A, 227650 227650 FANCA Fanconi anemia, complementation group B, 300514 300514 FAAP95 Fanconi anemia, complementation group C, 227645 227645 FANCC Fanconi anemia, complementation group D1, 605724 605724 BRCA2 Fanconi anemia, complementation group D2, 227646 227646 FANCD2 Fanconi anemia, complementation group E, 600901 600901 FANCE Fanconi anemia, complementation group F, 603467 603467 FANCF Fanconi anemia, complementation group G, 614082 614082 XRCC9 Fanconi anemia, complementation group I, 609053 609053 FANCI Fanconi anemia, complementation group J, 609054 609054 BRIP1 Fanconi anemia, complementation group L, 614083 614083 PHF9 Fanconi anemia, complementation group M, 614087 614087 FANCM Fanconi anemia, complementation group N, 610832 610832 PALB2 Fanconi anemia, complementation group O, 613390 613390 RAD51C Fanconi anemia, complementation group P, 613951 613951 SLX4 Fanconi anemia, complementation group Q, 615272 615272 ERCC4 Fanconi renotubular syndrome 1 FRTS1 Fanconi renotubular syndrome 2, 613388 613388 SLC34A1 Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 616026 HNF4A Fanconi-Bickel syndrome, 227810 227810 SLC2A2 Farber lipogranulomatosis, 228000 228000 ASAH1 Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 158901 SMCHD1 Fatty liver, acute, of pregnancy, 609016 609016 HADHA Favism, 134700 134700 G6PD Fazio-Londe disease, 211500 211500 SLC52A3 Febrile seizures, familial, 1 1 FEB1 Febrile seizures, familial, 10 10 FEB10 Febrile seizures, familial, 11, 614418 614418 CPA6 Febrile seizures, familial, 2 2 FEB2 Febrile seizures, familial, 3A, 604403 604403 SCN1A Febrile seizures, familial, 3B, 613863 613863 SCN9A Febrile seizures, familial, 4, 604352 604352 GPR98 Febrile seizures, familial, 5 5 FEB5 Febrile seizures, familial, 6 6 FEB6 Febrile seizures, familial, 7 7 FEB7 Febrile seizures, familial, 8, 611277 611277 GABRG2 Febrile seizures, familial, 9 FEB9 Fechtner syndrome, 153640 153640 MYH9 Feingold syndrome 2, 614326 614326 MIR17HG Feingold syndrome, 164280 164280 MYCN Fetal akinesia deformation sequence, 208150 208150 RAPSN Fetal hemoglobin quantitative trait locus 1, 141749 141749 HBG1 Fetal hemoglobin quantitative trait locus 1, 141749 141749 HBG2 Fetal hemoglobin quantitative trait locus 2 HBFQTL2 Fetal hemoglobin quantitative trait locus 3 HBFQTL3 Fetal hemoglobin quantitative trait locus 4 HBFQTL4 FG syndrome 2, 300321 300321 FLNA FG syndrome 3 FGS3 FG syndrome 4, 300422 300422 CASK FG syndrome 5 FGS5 Fibrochondrogenesis 1, 228520 228520 COL11A1 Fibrochondrogenesis 2, 614524 614524 COL11A2 Fibrodysplasia ossificans progressiva, 135100 135100 ACVR1 Fibromatosis, gingival, 135300 135300 SOS1 Fibromatosis, gingival, 2 2 GINGF2 Fibromatosis, gingival, 3 3 GINGF3 Fibromatosis, gingival, 4 4 GINGF4 Fibrosis of extraocular muscles, congenital, 1, 135700 135700 KIF21A Fibrosis of extraocular muscles, congenital, 2, 602078 602078 PHOX2A Fibrosis of extraocular muscles, congenital, 3A, 600638 600638 TUBB3 Fibrosis of extraocular muscles, congenital, 3B, 135700 135700 KIF21A Fibrosis of extraocular muscles, congenital, 3C 3C CFEOM3C Fibrosis of extraocular muscles, congenital, 5, 616219 616219 COL25A1 Filippi syndrome, 272440 272440 CKAP2L FILS syndrome, 615139 615139 POLE1 Fish-eye disease, 136120 136120 LCAT Fletcher factor deficiency, 612423 612423 KLKB1 Floating-Harbor syndrome, 136140 136140 SRCAP Focal cortical dysplasia, Taylor balloon cell type, 607341 607341 TSC1 Focal dermal hypoplasia, 305600 305600 PORCN Focal facial dermal dysplasia 3, Setleis type, 227260 227260 TWIST2 Focal facial dermal dysplasia 4, 614974 614974 CYP26C1 Focal segmental glomerulosclerosis 8, 616032 616032 ANLN Focal segmental glomerulosclerosis 9, 616220 616220 CRB2 Folate malabsorption, hereditary, 229050 229050 SLC46A1 Forebrain defects TDGF1 Forsythe-Wakeling syndrome FWS Foveal hypoplasia 1, 136520 136520 PAX6 Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 609218 SLC38A8 Fragile X syndrome, 300624 300624 FMR1 Fragile X tremor/ataxia syndrome, 300623 300623 FMR1 Frank-ter Haar syndrome, 249420 249420 SH3PXD2B Fraser syndrome, 219000 219000 GRIP1 Fraser syndrome, 219000 219000 FRAS1 Fraser syndrome, 219000 219000 FREM2 Frasier syndrome, 136680 136680 WT1 Frias syndrome FRIASS Friedreich ataxia 2 FRDA2 Friedreich ataxia with retained reflexes, 229300 229300 FXN Friedreich ataxia, 229300 229300 FXN Frontometaphyseal dysplasia, 305620 305620 FLNA Frontonasal dysplasia 1, 136760 136760 ALX3 Frontonasal dysplasia 2, 613451 613451 ALX4 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 615911 CHCHD10 Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 607485 GRN Frontotemporal lobar degeneration, TARDBP-related, 612069 612069 TARDBP Fructose intolerance, 229600 229600 ALDOB Fructose-1,6-bisphosphatase deficiency, 229700 229700 FBP1 Fucosidosis, 230000 230000 FUCA1 Fucosyltransferase 6 deficiency, 613852 613852 FUT6 Fuhrmann syndrome, 228930 228930 WNT7A Fumarase deficiency, 606812 606812 FH Fundus albipunctatus, 136880 136880 RLBP1 Fundus albipunctatus, 136880 136880 RDH5 Fundus flavimaculatus, 248200 248200 ABCA4 GABA-transaminase deficiency, 613163 613163 ABAT Galactokinase deficiency with cataracts, 230200 230200 GALK1 Galactose epimerase deficiency, 230350 230350 GALE Galactosemia, 230400 230400 GALT Galactosialidosis, 256540 256540 CTSA Gallbladder disease 1, 600803 600803 ABCB4 Gallbladder disease 2 GBD2 Gallbladder disease 3 GBD3 Gallbladder disease 4, 611465 611465 ABCG8 Galloway-Mowat syndrome, 251300 251300 WDR73 GAPO syndrome, 230740 230740 ANTXR1 Gardner syndrome, 175100 175100 APC Gastric cancer, familial diffuse, with or without cleft lip and/or palate, 137215 137215 CDH1 Gastric cancer, somatic, 137215 137215 KRAS Gastric cancer, somatic, 613659 613659 IRF1 Gastric cancer, somatic, 613659 613659 ERBB2 Gastric cancer, somatic, 613659 613659 PIK3CA Gastric cancer, somatic, 613659 613659 FGFR2 Gastric cancer, somatic, 613659 613659 CASP10 Gastric cancer, somatic, 613659 613659 KLF6 Gastric cancer, somatic, 613659 613659 MUTYH Gastric cancer, somatic, 613659 613659 APC Gastroesophageal reflux GER Gastrointestinal defects and immunodeficiency syndrome, 243150 243150 TTC7A Gastrointestinal stromal tumor, 606764 606764 SDHB Gastrointestinal stromal tumor, 606764 606764 SDHC Gastrointestinal stromal tumor, familial, 606764 606764 KIT Gastrointestinal stromal tumor, somatic, 606764 606764 PDGFRA Gaucher disease, atypical, 610539 610539 PSAP Gaucher disease, perinatal lethal, 608013 608013 GBA Gaucher disease, type I, 230800 230800 GBA Gaucher disease, type II, 230900 230900 GBA Gaucher disease, type III, 231000 231000 GBA Gaucher disease, type IIIC, 231005 231005 GBA Gaze palsy, horizontal, with progressive scoliosis, 607313 607313 ROBO3 Geleophysic dysplasia 1, 231050 231050 ADAMTSL2 Geleophysic dysplasia 2, 614185 614185 FBN1 Generalized epilepsy and paroxysmal dyskinesia, 609446 609446 KCNMA1 Generalized epilepsy with febrile seizures plus, type 9, 616172 616172 STX1B Geniospasm GSM1 Genitopatellar syndrome, 606170 606170 KAT6B Germ cell tumors, 273300 273300 KIT Geroderma osteodysplasticum, 231070 231070 GORAB Gerstmann-Straussler disease, 137440 137440 PRNP Ghosal hematodiaphyseal syndrome, 231095 231095 TBXAS1 Giant axonal neuropathy-1, 256850 256850 GAN Giant platelet disorder, isolated, 231200 231200 GP1BB Gigantism due to GHRF hypersecretion GHRH Gillespie syndrome, 206700 206700 PAX6 Gitelman syndrome, 263800 263800 SLC12A3 Glanzmann thrombasthenia, 273800 273800 ITGB3 Glanzmann thrombasthenia, 273800 273800 ITGA2B Glass syndrome, 612313 612313 SATB2 Glaucoma 1, open angle, 1O, 613100 613100 NTF4 Glaucoma 1, open angle, E, 137760 137760 OPTN Glaucoma 1, open angle, F, 603383 603383 ASB10 Glaucoma 1, open angle, G, 609887 609887 WDR36 Glaucoma 1, open angle, H GLC1H Glaucoma 1, open angle, I GLC1I Glaucoma 1, open angle, M GLC1M Glaucoma 1, open angle, N GLC1N Glaucoma 1, open angle, P GLC1P Glaucoma 1A, primary open angle, 137750 137750 MYOC Glaucoma 1B, primary open angle, adult onset, GLC1B Glaucoma 1C, primary open angle GLC1C Glaucoma 1D, primary open angle GLC1D Glaucoma 1K, primary open angle, juvenile-onset GLC1K Glaucoma 3, primary congenital, C GLC3C Glaucoma 3, primary congenital, D, 613086 613086 LTBP2 Glaucoma 3, primary infantile, B GLC3B Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 231300 CYP1B1 Glaucoma, primary open angle, juvenile-onset, 2 2 JOAG2 Glioblastoma, somatic, 137800 137800 ERBB2 Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 609886 UMOD Glomerulopathy with fibronectin deposits 1 GFND1 Glomerulopathy with fibronectin deposits 2, 601894 601894 FN1 Glomerulosclerosis, focal segmental, 1, 603278 603278 ACTN4 Glomerulosclerosis, focal segmental, 2, 603965 603965 TRPC6 Glomerulosclerosis, focal segmental, 3, 607832 607832 CD2AP Glomerulosclerosis, focal segmental, 5, 613237 613237 INF2 Glomerulosclerosis, focal segmental, 6, 614131 614131 MYO1E Glomerulosclerosis, focal segmental, 7, 616002 616002 PAX2 Glomuvenous malformations, 138000 138000 GLML Glucocorticoid deficiency 2, 607398 607398 MRAP Glucocorticoid deficiency 3 GCCD3 Glucocorticoid deficiency 4, 614736 614736 NNT Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 202200 MC2R Glucocorticoid resistance, 615962 615962 NR3C1 Glucose/galactose malabsorption, 606824 606824 SLC5A1 GLUT1 deficiency syndrome 1, 606777 606777 SLC2A1 GLUT1 deficiency syndrome 2, 612126 612126 SLC2A1 Glutamate formiminotransferase deficiency, 229100 229100 FTCD Glutamine deficiency, congenital, 610015 610015 GLUL Glutaric acidemia IIA, 231680 231680 ETFA Glutaric acidemia IIB, 231680 231680 ETFB Glutaric acidemia IIC, 231680 231680 ETFDH Glutaricaciduria, type I, 231670 231670 GCDH Glutathione synthetase deficiency, 266130 266130 GSS Glutathioninuria GGT1 Glycerol kinase deficiency, 307030 307030 GK Glycine encephalopathy, 605899 605899 GLDC Glycine encephalopathy, 605899 605899 AMT Glycine encephalopathy, 605899 605899 GCSH Glycine N-methyltransferase deficiency, 606664 606664 GNMT Glycogen storage disease 0, liver, 240600 240600 GYS2 Glycogen storage disease 0, muscle, 611556 611556 GYS1 Glycogen storage disease Ia, 232200 232200 G6PC Glycogen storage disease Ib, 232220 232220 SLC37A4 Glycogen storage disease Ic, 232240 232240 SLC37A4 Glycogen storage disease II, 232300 232300 GAA Glycogen storage disease IIIa, 232400 232400 AGL Glycogen storage disease IIIb, 232400 232400 AGL Glycogen storage disease IV, 232500 232500 GBE1 Glycogen storage disease IXc, 613027 613027 PHKG2 Glycogen storage disease of heart, lethal congenital, 261740 261740 PRKAG2 Glycogen storage disease VI, 232700 232700 PYGL Glycogen storage disease VII, 232800 232800 PFKM Glycogen storage disease X, 261670 261670 PGAM2 Glycogen storage disease XI, 612933 612933 LDHA Glycogen storage disease XII, 611881 611881 ALDOA Glycogen storage disease, type IXa1, 306000 306000 PHKA2 Glycogen storage disease, type IXa2, 306000 306000 PHKA2 Glycosylphosphatidylinositol deficiency, 610293 610293 PIGM GM1-gangliosidosis, type I, 230500 230500 GLB1 GM1-gangliosidosis, type II, 230600 230600 GLB1 GM1-gangliosidosis, type III, 230650 230650 GLB1 GM2-gangliosidosis, AB variant, 272750 272750 GM2A GM2-gangliosidosis, several forms, 272800 272800 HEXA Gnathodiaphyseal dysplasia, 166260 166260 ANO5 Goeminne TKCR syndrome TKCR Goiter, familial, due to TTF-1 defect NKX2-1 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, 138800 138800 DICER1 Goiter, multinodular, 2 2 MNG2 Goiter, multinodular, 3 3 MNG3 Goldberg-Shprintzen megacolon syndrome, 609460 609460 KIAA1279 Gout, PRPS-related, 300661 300661 PRPS1 Gracile bone dysplasia, 602361 602361 FAM111A GRACILE syndrome, 603358 603358 BCS1L Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 613960 NCF4 Gray platelet syndrome, 139090 139090 NBEAL2 Greenberg skeletal dysplasia, 215140 215140 LBR Greig cephalopolysyndactyly syndrome, 175700 175700 GLI3 Griscelli syndrome, type 1, 214450 214450 MYO5A Griscelli syndrome, type 2, 607624 607624 RAB27A Griscelli syndrome, type 3, 609227 609227 MLPH Growth hormone deficiency with pituitary anomalies, 182230 182230 HESX1 Growth hormone deficiency, isolated partial, 615925 615925 GHSR Growth hormone deficiency, isolated, type IA, 262400 262400 GH1 Growth hormone deficiency, isolated, type IB, 612781 612781 GHRHR Growth hormone deficiency, isolated, type IB, 612781 612781 GH1 Growth hormone deficiency, isolated, type II, 173100 173100 GH1 Growth hormone insensitivity with immunodeficiency, 245590 245590 STAT5B Growth hormone insensitivity, partial, 604271 604271 GHR Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 608747 IGF1 Growth retardation, developmental delay, coarse facies, and early death, 612938 612938 FTO Gustavson syndrome GUST Guttmacher syndrome, 176305 176305 HOXA13 Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 258870 OAT Haddad syndrome, 209880 209880 ASCL1 Hailey-Hailey disease, 169600 169600 ATP2C1 Haim-Munk syndrome, 245010 245010 CTSC Hair, curly HRM2 Hajdu-Cheney syndrome, 102500 102500 NOTCH2 Hamamy syndrome, 611174 611174 IRX5 Hand-foot-uterus syndrome, 140000 140000 HOXA13 Harderoporphyria, 121300 121300 CPOX HARP syndrome, 607236 607236 PANK2 Hartnup disorder, 234500 234500 SLC6A19 Hartsfield syndrome, 615465 615465 FGFR1 Hashimoto thyroiditis HT Hawkinsinuria, 140350 140350 HPD Hay-Wells syndrome, 106260 106260 TP63 HDL deficiency, type 2, 604091 604091 ABCA1 Heart block, nonprogressive, 113900 113900 SCN5A Heart block, progressive, type IA, 113900 113900 SCN5A Heart-hand syndrome, Slovenian type, 610140 610140 LMNA Heinz body anemia, 140700 140700 HBA2 Heinz body anemias, alpha-, 140700 140700 HBA1 Heinz body anemias, beta-, 140700 140700 HBB HELLP syndrome, maternal, of pregnancy, 609016 609016 HADHA Helsmoortel-van der Aa syndrome, 615873 615873 ADNP Hemangioblastoma, cerebellar, somatic VHL Hemangioma, capillary infantile, somatic, 602089 602089 FLT4 Hemangioma, capillary infantile, somatic, 602089 602089 KDR Hematuria, benign familial, 141200 141200 COL4A3 Hematuria, familial benign COL4A4 Heme oxygenase-1 deficiency, 614034 614034 HMOX1 Hemifacial microsomia HFM Hemihypertrophy IH Hemochromatosis, 235200 235200 HFE Hemochromatosis, type 2A, 602390 602390 HJV Hemochromatosis, type 2B, 613313 613313 HAMP Hemochromatosis, type 3, 604250 604250 TFR2 Hemochromatosis, type 4, 606069 606069 SLC40A1 Hemoglobin H disease, nondeletional, 613978 613978 HBA1 Hemoglobin H disease, nondeletional, 613978 613978 HBA2 Hemolytic anemia due to adenylate kinase deficiency, 612631 612631 AK1 Hemolytic anemia due to G6PD deficiency, 300908 300908 G6PD Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 230450 GCLC Hemolytic anemia due to glutathione peroxidase deficiency, 614164 614164 GPX1 Hemolytic anemia due to glutathione reductase deficiency GSR Hemolytic anemia due to glutathione synthetase deficiency, 231900 231900 GSS Hemolytic anemia due to hexokinase deficiency, 235700 235700 HK1 Hemolytic anemia due to phosphofructokinase deficiency PFKL Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 615512 TPI1 Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 612300 CD59 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 613470 GPI Hemophagocytic lymphohistiocytosis, familial, 1 1 FHL1 Hemophagocytic lymphohistiocytosis, familial, 2, 603553 603553 PRF1 Hemophagocytic lymphohistiocytosis, familial, 3, 608898 608898 UNC13D Hemophagocytic lymphohistiocytosis, familial, 4, 603552 603552 STX11 Hemophagocytic lymphohistiocytosis, familial, 5, 613101 613101 STXBP2 Hemophilia A, 306700 306700 F8 Hemophilia B, 306900 306900 F9 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 613730 JAM3 Hemorrhagic diathesis due to 'antithrombin' Pittsburgh, 613490 613490 SERPINA1 Hemosiderosis, systemic, due to aceruloplasminemia, 604290 604290 CP Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 235510 CCBE1 Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 616006 FAT4 Hepatic adenoma, somatic, 142330 142330 HNF1A Hepatic failure, early onset, and neurologic disorder SCOD1 Hepatic lipase deficiency, 614025 614025 LIPC Hepatic venoocclusive disease with immunodeficiency, 235550 235550 SP110 Hepatoblastoma, somatic, 114550 114550 APC Hepatocellular cancer, somatic, 114550 114550 PDGFRL Hepatocellular carcinoma, 114550 114550 TP53 Hepatocellular carcinoma, childhood type, 114550 114550 MET Hepatocellular carcinoma, somatic, 114550 114550 CTNNB1 Hepatocellular carcinoma, somatic, 114550 114550 IGF2R Hepatocellular carcinoma, somatic, 114550 114550 PIK3CA Hepatocellular carcinoma, somatic, 114550 114550 CASP8 Hepatocellular carcinoma, somatic, 114550 114550 AXIN1 Hereditary motor and sensory neuropathy V HMSN5 Hereditary motor and sensory neuropathy VI, 601152 601152 MFN2 Hereditary motor and sensory neuropathy, Okinawa type, 604484 604484 TFG Hereditary motor and sensory neuropathy, type IIc, 606071 606071 TRPV4 Hereditary persistence of fetal hemoglobin, 141749 141749 HBB Hermansky-Pudlak syndrome 1, 203300 203300 HPS1 Hermansky-Pudlak syndrome 2, 608233 608233 AP3B1 Hermansky-Pudlak syndrome 3, 614072 614072 HPS3 Hermansky-Pudlak syndrome 4, 614073 614073 HPS4 Hermansky-Pudlak syndrome 5, 614074 614074 HPS5 Hermansky-Pudlak syndrome 6, 614075 614075 HPS6 Hermansky-Pudlak syndrome 7, 614076 614076 DTNBP1 Hermansky-Pudlak syndrome 8, 614077 614077 BLOC1S3 Hermansky-pudlak syndrome 9, 614171 614171 BLOC1S6 Hernia, congenital diaphragmatic 1 DIH1 Hernia, congenital diaphragmatic 2 DIH2 Heterotaxy, visceral, 1, X-linked 306955 ZIC3 Heterotaxy, visceral, 2, autosomal, 605376 605376 CFC1 Heterotaxy, visceral, 4, autosomal, 613751 613751 ACVR2B Heterotaxy, visceral, 5, 270100 270100 NODAL Heterotaxy, visceral, 6, autosomal recessive, 614779 614779 CCDC11 Heterotopia, periventricular, 300049 300049 FLNA Heterotopia, periventricular, ED variant, 300537 300537 FLNA High density lipoprotein cholesterol level QTL14 HDLCQ14 Hip dysplasia, Beukes type BHD Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 613870 ECE1 Histiocytoma, angiomatoid fibrous, somatic, 612160 612160 CREB1 Histiocytosis-lymphadenopathy plus syndrome, 602782 602782 HJCD Histiocytosis-lymphadenopathy plus syndrome, 602782 602782 SLC29A3 HMG-CoA lyase deficiency, 246450 246450 HMGCL HMG-CoA synthase-2 deficiency, 605911 605911 HMGCS2 Holocarboxylase synthetase deficiency, 253270 253270 HLCS Holoprosencephaly 11, 614226 614226 CDON Holoprosencephaly-1 HPE1 Holoprosencephaly-2, 157170 157170 SIX3 Holoprosencephaly-3, 142945 142945 SHH Holoprosencephaly-4, 142946 142946 TGIF Holoprosencephaly-5, 609637 609637 ZIC2 Holoprosencephaly-6 HPE6 Holoprosencephaly-7, 610828 610828 PTCH1 Holoprosencephaly-8 HPE8 Holoprosencephaly-9, 610829 610829 GLI2 Holt-Oram syndrome, 142900 142900 TBX5 Homocysteine plasma level NNMT Homocysteine, total plasma, elevated CTH Homocystinuria due to MTHFR deficiency, 236250 236250 MTHFR Homocystinuria, B6-responsive and nonresponsive types, 236200 236200 CBS Homocystinuria, cblD type, variant 1, 277410 277410 C2orf25 Homocystinuria-megaloblastic anemia, cbl E type, 236270 236270 MTRR Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 250940 MTR HPRT-related gout, 300323 300323 HPRT1 HSAN2D, autosomal recessive, 243000 243000 SCN9A Humoral hypercalcemia of malignancy PTHLH Huntington disease, 143100 143100 HTT Huntington disease-like 1, 603218 603218 PRNP Huntington disease-like 2, 606438 606438 JPH3 Huntington disease-like 3 HDL3 Huriez syndrome TYS Hutchinson-Gilford progeria, 176670 176670 LMNA Hyaline fibromatosis syndrome, 228600 228600 ANTXR2 Hydatidiform mole, recurrent, 1, 231090 231090 NALP7 Hydatidiform mole, recurrent, 2, 614293 614293 KHDC3L Hydranencephaly with abnormal genitalia, 300215 300215 ARX Hydrocephalus due to aqueductal stenosis, 307000 307000 L1CAM Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 307000 L1CAM Hydrocephalus with Hirschsprung disease, 307000 307000 L1CAM Hydrocephalus, nonsyndromic, autosomal recessive 2, 615219 615219 MPDZ Hydrocephalus, nonsyndromic, autosomal recessive, 236600 236600 CCDC88C Hydrolethalus syndrome 2, 614120 614120 KIF7 Hydrolethalus syndrome, 236680 236680 HYLS1 Hyperaldosteronism, familial, type II FHII Hyperaldosteronism, familial, type III, 613677 613677 KCNJ5 Hyperalphalipoproteinemia, 143470 143470 CETP Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 615751 CA5A Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 201910 CYP21A2 Hyperbilirubinemia, familial transient neonatal, 237900 237900 UGT1A1 Hyperbilirubinemia, Rotor type, digenic, 237450 237450 SLCO1B1 Hyperbilirubinemia, Rotor type, digenic, 237450 237450 SLCO1B3 Hyperbiliverdinemia, 614156 614156 BLVRA Hypercalcemia, infantile, 143880 143880 CYP24A1 Hypercalciuria, absorptive HCA1 Hypercalciuric hypercalcemia CASR Hypercarotenemia and vitamin A deficiency, autosomal dominant, 115300 115300 BCMO1 Hyperchlorhidrosis, isolated, 143860 143860 CA12 Hypercholanemia, familial, 607748 607748 EPHX1 Hypercholanemia, familial, 607748 607748 BAAT Hypercholanemia, familial, 607748 607748 TJP2 Hypercholesterolemia, due to ligand-defective apo B, 144010 144010 APOB Hypercholesterolemia, familial, 143890 143890 LDLR Hypercholesterolemia, familial, 3, 603776 603776 PCSK9 Hypercholesterolemia, familial, autosomal recessive, 603813 603813 LDLRAP1 Hyperchylomicronemia, late-onset, 144650 144650 APOA5 Hyperekplexia 2, autosomal recessive, 614619 614619 GLRB Hyperekplexia 3, 614618 614618 SLC6A5 Hyperekplexia, hereditary 1, autosomal dominant or recessive, 149400 149400 GLRA1 Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 607685 PDGFRA Hyperferritinemia-cataract syndrome, 600886 600886 FTL Hyperfibrinolysis, familial, due to increased release of PLAT, 612348 612348 PLAT Hyperglycinuria, 138500 138500 SLC6A20 Hyperglycinuria, 138500 138500 SLC36A2 Hyperglycinuria, 138500 138500 SLC6A19 Hyperhidrosis palmaris et plantaris HHPP Hyper-IgD syndrome, 260920 260920 MVK Hyper-IgE recurrent infection syndrome, 147060 147060 STAT3 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 243700 DOCK8 Hyperinsulinemic hypoglycemia, familial, 1, 256450 256450 ABCC8 Hyperinsulinemic hypoglycemia, familial, 2, 601820 601820 KCNJ11 Hyperinsulinemic hypoglycemia, familial, 3, 602485 602485 GCK Hyperinsulinemic hypoglycemia, familial, 4, 609975 609975 HADHSC Hyperinsulinemic hypoglycemia, familial, 5, 609968 609968 INSR Hyperinsulinemic hypoglycemia, familial, 7, 610021 610021 SLC16A1 Hyperinsulinism-hyperammonemia syndrome, 606762 606762 GLUD1 Hyperkalemic periodic paralysis, type 2, 170500 170500 SCN4A Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 116860 CCM1 Hyperlipidemia, combined, 2 2 HYPLIP2 Hyperlipoproteinemia, type 1D, 615947 615947 GPIHBP1 Hyperlipoproteinemia, type Ib, 207750 207750 APOC2 Hyperlipoproteinemia, type III APOE Hyperlysinemia, 238700 238700 AASS Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 613280 SLC30A10 Hypermethioninemia due to adenosine kinase deficiency, 614300 614300 ADK Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 613752 AHCY Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 250850 MAT1A Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 238970 SLC25A15 Hyperostosis, endosteal, 144750 144750 LRP5 Hyperoxaluria, primary, type 1, 259900 259900 AGXT Hyperoxaluria, primary, type II, 260000 260000 GRHPR Hyperoxaluria, primary, type III, 613616 613616 HOGA1 Hyperparathyroidism 3 HRPT3 Hyperparathyroidism, familial primary, 145000 145000 HRPT2 Hyperparathyroidism, neonatal, 239200 239200 CASR Hyperparathyroidism-jaw tumor syndrome, 145001 145001 HRPT2 Hyperphenylalaninemia, BH4-deficient, A, 261640 261640 PTS Hyperphenylalaninemia, BH4-deficient, B, 233910 233910 GCH1 Hyperphenylalaninemia, BH4-deficient, C, 261630 261630 QDPR Hyperphenylalaninemia, BH4-deficient, D, 264070 264070 PCBD1 Hyperphosphatasia with mental retardation syndrome 1, 239300 239300 PIGV Hyperphosphatasia with mental retardation syndrome 2, 614749 614749 PIGO Hyperphosphatasia with mental retardation syndrome 3, 614207 614207 PGAP2 Hyperphosphatasia with mental retardation syndrome 4, 615716 615716 PGAP3 Hyperpigmentation with or without hypopigmentation, 145250 145250 KITLG Hyperpigmentation, familial progressive, 1 1 FPH1 Hyperproinsulinemia, 616214 616214 INS Hyperprolinemia, type I, 239500 239500 PRODH Hyperprolinemia, type II, 239510 239510 ALDH4A1 Hypertelorism, preauricular sinus, punctal pits, and deafness HPPD Hypertension with brachydactyly HTNB Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 605115 NR3C2 Hypertension, essential, 145500 145500 PTGIS Hypertensive nephropathy HNP1 Hyperthyroidism, familial gestational, 603373 603373 TSHR Hyperthyroidism, nonautoimmune, 609152 609152 TSHR Hypertrichosis terminalis, generalized, with or without gingival hyperplasia HTGH Hypertrichosis, congenital generalized HTC2 Hypertrichotic osteochondrodysplasia, 239850 239850 ABCC9 Hypertriglyceridemia, transient infantile, 614480 614480 GPD1 Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 259100 HPGD Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 614441 SLCO2A1 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 613845 SARS2 Hyperuricemic nephropathy, familial juvenile 1, 162000 162000 UMOD Hyperuricemic nephropathy, familial juvenile 2, 613092 613092 REN Hyperuricemic nephropathy, familial juvenile, 3 3 HNFJ3 Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 203400 CYP11B2 Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 610600 CYP11B2 Hypoalphalipoproteinemia, 604091 604091 APOA1 Hypobetalipoproteinemia, 615558 615558 APOB Hypobetalipoproteinemia, familial, 2, 605019 605019 ANGPTL3 Hypocalcemia, autosomal dominant 2, 615361 615361 GNA11 Hypocalcemia, autosomal dominant, 601198 601198 CASR Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 601198 CASR Hypocalciuric hypercalcemia, familial, type III, 600740 600740 AP2S1 Hypocalciuric hypercalcemia, type I, 145980 145980 CASR Hypocalciuric hypercalcemia, type II, 145981 145981 GNA11 Hypochondroplasia, 146000 146000 FGFR3 Hypochromic microcytic anemia HBA2 Hypodysfibrinogenemia, 616004 616004 FGG Hypodysfibrinogenemia, congenital, 616004 616004 FGA Hypofibrinogenemia, congenital, 202400 202400 FGB Hypofibrinogenemia, congenital, 202400 202400 FGG Hypoglycemia of infancy, leucine-sensitive, 240800 240800 ABCC8 Hypogonadotropic hypogonadism 1 with or without anosmia KAL1 Hypogonadotropic hypogonadism 10 with or without anosmia, 614839 614839 TAC3 Hypogonadotropic hypogonadism 11 with or without anosmia, 614840 614840 TACR3 Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 614858 WDR11 Hypogonadotropic hypogonadism 17 with or without anosmia, 615266 615266 SPRY4 Hypogonadotropic hypogonadism 18 with or without anosmia, 615267 615267 IL17RD Hypogonadotropic hypogonadism 19 with or without anosmia, 615269 615269 DUSP6 Hypogonadotropic hypogonadism 2 with or without anosmia, 147950 147950 FGFR1 Hypogonadotropic hypogonadism 20 with or without anosmia, 615270 615270 FGF17 Hypogonadotropic hypogonadism 21 with anosmia, 615271 615271 FLRT3 Hypogonadotropic hypogonadism 23 with or without anosmia, 228300 228300 LHB Hypogonadotropic hypogonadism 24 without anosmia, 229070 229070 FSHB Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 244200 PROKR2 Hypogonadotropic hypogonadism 4 with or without anosmia, 610628 610628 PROK2 Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 612370 CHD7 Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 612702 FGF8 Hypogonadotropic hypogonadism 7 without anosmia, 146110 146110 GNRHR Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 614837 KISS1R Hypogonadotropic hypogonadism 9 with or without anosmia, 614838 614838 NSMF Hypogonadotropic hypogonadism with or without anosmia, 616030 616030 FEZF1 Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 240900 AKT2 Hypokalemic periodic paralysis, type 1, 170400 170400 CACNA1S Hypokalemic periodic paralysis, type 2, 613345 613345 SCN4A Hypomagnesemia 1, intestinal, 602014 602014 TRPM6 Hypomagnesemia 3, renal, 248250 248250 CLDN16 Hypomagnesemia 4, renal, 611718 611718 EGF Hypomagnesemia 5, renal, with ocular involvement, 248190 248190 CLDN19 Hypomagnesemia 6, renal, 613882 613882 CNNM2 Hypomagnesemia-2, renal, 154020 154020 FXYD2 Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 615281 DARS Hypomyelination, global cerebral, 612949 612949 SLC25A12 Hypoparathyroidism, autosomal dominant, 146200 146200 PTH Hypoparathyroidism, autosomal recessive, 146200 146200 PTH Hypoparathyroidism, familial isolated, 146200 146200 GCMB Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 146255 GATA3 Hypoparathyroidism, X-linked HPT Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 241410 TBCE Hypophosphatasia, adult, 146300 146300 ALPL Hypophosphatasia, childhood, 241510 241510 ALPL Hypophosphatasia, infantile, 241500 241500 ALPL Hypophosphatemic rickets and hyperparathyroidism HPRHP Hypophosphatemic rickets with hypercalciuria, 241530 241530 SLC34A3 Hypophosphatemic rickets, 300554 300554 CLCN5 Hypophosphatemic rickets, AR, 241520 241520 DMP1 Hypophosphatemic rickets, autosomal dominant, 193100 193100 FGF23 Hypophosphatemic rickets, autosomal recessive, 2, 613312 613312 ENPP1 Hypophosphatemic rickets, X-linked dominant, 307800 307800 PHEX Hypoplastic left heart syndrome 1, 241550 241550 GJA1 Hypoplastic left heart syndrome 2, 614435 614435 NKX2-5 Hypoplastic or aplastic tibia with polydactyly, 188740 188740 LMBR1 Hypoproteinemia, hypercatabolic, 241600 241600 B2M Hypoprothrombinemia, 613679 613679 F2 Hypospadias 1, X-linked, 300633 300633 AR Hypospadias 2, X-linked, 300758 300758 MAMLD1 Hypospadias 3, autosomal HYSP3 Hypothryoidism, congenital, nongoitrous 4, 275100 275100 TSHB Hypothyroidism, central, and testicular enlargement, 300888 300888 IGSF1 Hypothyroidism, congenital nongoitrous, 5, 225250 225250 NKX2-5 Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 218700 PAX8 Hypothyroidism, congenital, nongoitrous, 1 275200 275200 TSHR Hypothyroidism, congenital, nongoitrous, 3 3 CHNG3 Hypothyroidism, congenital, nongoitrous, 6, 614450 614450 THRA Hypotonia, infantile, with psychomotor retardation and characteristic facies, 615419 615419 NALCN Hypotonia-cystinuria syndrome DEL2p21 Hypotrichosis 1, 605389 605389 APCDD1 Hypotrichosis 10 HYPT10 Hypotrichosis 11, 615059 615059 SNRPE Hypotrichosis 12, 615885 615885 RPL21 Hypotrichosis 2, 146520 146520 CDSN Hypotrichosis 4, 146550 146550 HR Hypotrichosis 5 HYPT5 Hypotrichosis 6, 607903 607903 DSG4 Hypotrichosis 7, 604379 604379 LIPH Hypotrichosis 8, 278150 278150 LPAR6 Hypotrichosis 9 HYPT9 Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 601553 CDH3 Hypotrichosis-lymphedema-telangiectasia syndrome, 607823 607823 SOX18 Hypouricemia, renal, 2, 612076 612076 SLC2A9 Hypouricemia, renal, 220150 220150 SLC22A12 Hystrix-like ichthyosis with deafness, 602540 602540 GJB2 Ichthyosis bullosa of Siemens, 146800 146800 KRT2 Ichthyosis histrix, Curth-Macklin type, 146590 146590 KRT1 Ichthyosis prematurity syndrome, 608649 608649 SLC27A4 Ichthyosis vulgaris, 146700 146700 FLG Ichthyosis with confetti, 609165 609165 KRT10 Ichthyosis, autosomal recessive 4B ABCA12 Ichthyosis, congenital, autosomal recessive 1, 242300 242300 TGM1 Ichthyosis, congenital, autosomal recessive 10, 615024 615024 PNPLA1 Ichthyosis, congenital, autosomal recessive 11, 602400 602400 ST14 Ichthyosis, congenital, autosomal recessive 2, 242100 242100 ALOX12B Ichthyosis, congenital, autosomal recessive 3, 606545 606545 ALOXE3 Ichthyosis, congenital, autosomal recessive 4A, 601277 601277 ABCA12 Ichthyosis, congenital, autosomal recessive 5, 604777 604777 CYP4F22 Ichthyosis, congenital, autosomal recessive 6, 612281 612281 NIPAL4 Ichthyosis, congenital, autosomal recessive 7, 615022 615022 ARCI7 Ichthyosis, congenital, autosomal recessive 8, 613943 613943 LIPN Ichthyosis, congenital, autosomal recessive 9, 615023 615023 CERS3 Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 607602 KRT1 Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 607602 KRT10 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 607626 CLDN1 Ichthyosis, spastic quadriplegia, and mental retardation, 614457 614457 ELOVL4 Ichthyosis, X-linked, 308100 308100 STS IFAP syndrome with or without BRESHECK syndrome, 308205 308205 MBTPS2 IgG2 deficiency, selective IGHG2 IMAGE syndrome, 614732 614732 CDKN1C Iminoglycinuria, digenic, 242600 242600 SLC6A20 Iminoglycinuria, digenic, 242600 242600 SLC36A2 Iminoglycinuria, digenic, 242600 242600 SLC6A19 Immunodeficiency 10, 612783 612783 STIM1 Immunodeficiency 11, 615206 615206 CARD11 Immunodeficiency 12, 615468 615468 MALT1 Immunodeficiency 14, 615513 615513 PIK3CD Immunodeficiency 15, 615592 615592 IKBKB Immunodeficiency 16, with or without neurologic abnormalities, 615966 615966 PRKDC Immunodeficiency 17, CD3 gamma deficient, 615607 615607 CD3G Immunodeficiency 18, 615615 615615 CD3E Immunodeficiency 18, SCID variant, 615615 615615 CD3E Immunodeficiency 19, 615617 615617 CD3D Immunodeficiency 20, 615707 615707 FCGR3A Immunodeficiency 21, 614172 614172 GATA2 Immunodeficiency 23, 615816 615816 PGM3 Immunodeficiency 24, 615897 615897 CTPS1 Immunodeficiency 27A, mycobacteriosis, AR, 209950 209950 IFNGR1 Immunodeficiency 27B, mycobacteriosis, AD, 615978 615978 IFNGR1 Immunodeficiency 28, mycobacteriosis, 614889 614889 IFNGR2 Immunodeficiency 29, mycobacteriosis, 614890 614890 IL12B Immunodeficiency 30, 614891 614891 IL12RB1 Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892 614892 STAT1 Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 613796 STAT1 Immunodeficiency 31C, autosomal dominant, 614162 614162 STAT1 Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 614893 IRF8 Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 614894 614894 IRF8 Immunodeficiency 33, 300636 300636 IKBKG Immunodeficiency 34, mycobacteriosis, X-linked, 300645 300645 CYBB Immunodeficiency 35, 611521 611521 TYK2 Immunodeficiency 36, 616005 616005 PIK3R1 Immunodeficiency 38, 616126 616126 ISG15 Immunodeficiency 7, TCR-alpha/beta deficient, 615387 615387 TRAC Immunodeficiency 8, 615401 615401 CORO1A Immunodeficiency due to defect in MAPBP-interacting protein, 610798 610798 LAMTOR2 Immunodeficiency due to ficolin 3 deficiency, 613860 613860 FCN3 Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 613179 PNP Immunodeficiency with hyper IgM, type 5, 608106 608106 UNG Immunodeficiency with hyper-IgM, type 2, 605258 605258 AICDA Immunodeficiency with hyper-IgM, type 3, 606843 606843 CD40 Immunodeficiency, common variable, 1, 607594 607594 ICOS Immunodeficiency, common variable, 10, 615577 615577 NFKB2 Immunodeficiency, common variable, 2, 240500 240500 TNFRSF13B Immunodeficiency, common variable, 3, 613493 613493 CD19 Immunodeficiency, common variable, 4, 613494 613494 TNFRSF13C Immunodeficiency, common variable, 5, 613495 613495 MS4A1 Immunodeficiency, common variable, 6, 613496 613496 CD81 Immunodeficiency, common variable, 7, 614699 614699 CR2 Immunodeficiency, common variable, 8, with autoimmunity, 614700 614700 LRBA Immunodeficiency, isolated, 300584 300584 IKBKG Immunodeficiency, primary, autosomal recessive, IL21R-related, 615207 615207 IL21R Immunodeficiency, X-linked, with hyper-IgM, 308230 308230 TNFSF5 Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853 300853 MAGT1 Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 242860 DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 614069 ZBTB24 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 304790 FOXP3 Immunoglobulin A deficiency IGAD1 Immunoglobulin A deficiency 2, 609529 609529 TNFRSF13B Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 167320 VCP Inclusion body myopathy, autosomal recessive, 600737 600737 GNE Incontinentia pigmenti, 308300 308300 IKBKG Increased responsiveness to growth hormone GHR Infantile cerebellar-retinal degeneration, 614559 614559 ACO2 Infantile neuroaxonal dystrophy 1, 256600 256600 PLA2G6 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263 616263 PTRH2 Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations, 613759 613759 FADD Inflammatory bowel disease 19, 612278 612278 IRGM Inflammatory bowel disease 25, early onset, autosomal recessive, 612567 612567 CRFB4 Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 613148 IL10RA Insensitivity to pain, congenital, 243000 243000 SCN9A Insensitivity to pain, congenital, with anhidrosis, 256800 256800 NTRK1 Insomnia, fatal familial, 600072 600072 PRNP Insulin resistance, severe, digenic, 604367 604367 PPP1R3A Insulin resistance, severe, digenic, 604367 604367 PPARG Insulin-like growth factor I, resistance to, 270450 270450 IGF1R Insulinoma ITS Interferon, alpha, deficiency IFNA1 Interleukin 1 receptor antagonist deficiency, 612852 612852 IL1RN Interleukin-2 receptor, alpha chain, deficiency of, 606367 606367 IL2RA Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 614748 ITGA3 Interstitial nephritis, karyomegalic, 614817 614817 FAN1 Intestinal pseudoobstruction, neuronal, 300048 300048 FLNA Intrinsic factor deficiency, 261000 261000 GIF Invasive pneumococcal disease, recurrent isolated, 1, 610799 610799 IRAK4 Invasive pneumococcal disease, recurrent isolated, 2, 300640 300640 IKBKG IRAK4 deficiency, 607676 607676 IRAK4 Iridogoniodysgenesis, type 1, 601631 601631 FOXC1 Iridogoniodysgenesis, type 2, 137600 137600 PITX2 Iris hypoplasia and glaucoma, 601631 601631 FOXC1 Iron-refractory iron deficiency anemia, 206200 206200 TMPRSS6 Isobutyryl-CoA dehydrogenase deficiency, 611283 611283 ACAD8 Isovaleric acidemia, 243500 243500 IVD IVIC syndrome, 147750 147750 SALL4 Jackson-Weiss syndrome, 123150 123150 FGFR1 Jackson-Weiss syndrome, 123150 123150 FGFR2 Jacobsen syndrome JBS Jalili syndrome, 217080 217080 CNNM4 Jawad syndrome, 251255 251255 RBBP8 Jensen syndrome, 311150 311150 TIMM8A Jervell and Lange-Nielsen syndrome 2, 612347 612347 KCNE1 Jervell and Lange-Nielsen syndrome, 220400 220400 KCNQ1 Johanson-Blizzard syndrome, 243800 243800 UBR1 Joubert syndrome 1, 213300 213300 INPP5E Joubert syndrome 10, 300804 300804 OFD1 Joubert syndrome 12, 200990 200990 KIF7 Joubert syndrome 13, 614173 614173 TECT1 Joubert syndrome 14, 614424 614424 TMEM237 Joubert syndrome 15, 614464 614464 CEP41 Joubert syndrome 16, 614465 614465 TMEM138 Joubert syndrome 17, 614615 614615 C5orf42 Joubert syndrome 18, 614815 614815 TCTN3 Joubert syndrome 19, 614844 614844 ZNF423 Joubert syndrome 2, 608091 608091 TMEM216 Joubert syndrome 20, 614970 614970 TMEM231 Joubert syndrome 21, 615636 615636 CSPP1 Joubert syndrome 4, 609583 609583 NPHP1 Joubert syndrome 5, 610188 610188 CEP290 Joubert syndrome 6, 610688 610688 TMEM67 Joubert syndrome 7, 611560 611560 RPGRIP1L Joubert syndrome 8, 612291 612291 ARL13B Joubert syndrome 9, 612285 612285 CC2D2A Joubert syndrome-3, 608629 608629 AHI1 Juvenile polyposis syndrome, infantile form, 174900 174900 BMPR1A Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 175050 MADH4 Kabuki syndrome 1, 147920 147920 KMT2D Kabuki syndrome 2, 300867 300867 KDM6A Kahrizi syndrome, 612713 612713 SRD5A3 Kanzaki disease, 609242 609242 NAGA Kaufman oculocerebrofacial syndrome, 244450 244450 UBE3B KBG syndrome, 148050 148050 ANKRD11 Kenny-Caffey syndrome, type 2, 127000 127000 FAM111A Kenny-Caffey syndrome-1, 244460 244460 TBCE Keppen-Lubinsky syndrome, 614098 614098 KCNJ6 Keratitis, 148190 148190 PAX6 Keratitis-ichthyosis-deafness syndrome, 148210 148210 GJB2 Keratoconus 1, 148300 148300 VSX1 Keratoconus 2 KTCN2 Keratoconus 3 KTCN3 Keratoconus 4 KTCN4 Keratoconus 5 KTCN5 Keratoconus 6 KTCN6 Keratoconus 7 KTCN7 Keratoconus 8 KTCN8 Keratoderma, palmoplantar, punctate type IA, 148600 148600 AAGAB Keratoderma, palmoplantar, punctate type IB PPKP1B Keratoderma, palmoplantar, with deafness, 148350 148350 GJB2 Keratolytic winter erythema KWE Keratosis follicularis spinulosa decalvans, 308800 308800 SAT1 Keratosis follicularis spinulosa decalvans, X-linked, 308800 308800 MBTPS2 Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 601952 POMP Keratosis palmoplantaris striata I, AD, 148700 148700 DSG1 Keratosis palmoplantaris striata II, 612908 612908 DSP Keratosis palmoplantaris striata III, 607654 607654 KRT1 Keratosis, seborrheic, somatic, 182000 182000 PIK3CA Keutel syndrome, 245150 245150 MGP Kindler syndrome, 173650 173650 KIND1 King-Denborough syndrome, 145600 145600 RYR1 Kleefstra syndrome, 610253 610253 EHMT1 Klippel-Feil syndrome 1, autosomal dominant, 118100 118100 GDF6 Klippel-Feil syndrome 2, 214300 214300 MEOX1 Klippel-Feil syndrome 3, autosomal dominant, 613702 613702 GDF3 Klippel-Trenaunay-Weber syndrome KTWS Kniest dysplasia, 156550 156550 COL2A1 Knobloch syndrome, type 1, 267750 267750 COL18A1 Kohlschutter-Tonz syndrome, 226750 226750 ROGDI Kondoh syndrome KONDS Koolen-De Vries syndrome, 610443 610443 KANSL1 Kowarski syndrome, 262650 262650 GH1 Krabbe disease, 245200 245200 GALC Krabbe disease, atypical, 611722 611722 PSAP Kufor-Rakeb syndrome, 606693 606693 ATP13A2 Kyphoscoliosis 1 KYPSC1 L-2-hydroxyglutaric aciduria, 236792 236792 L2HGDH Lactase deficiency, congenital, 223000 223000 LCT Lactase persistence/nonpersistence, 223100 223100 MCM6 Lactate dehydrogenase-B deficiency, 614128 614128 LDHB Lacticacidemia due to PDX1 deficiency, 245349 245349 PDX1 LADD syndrome, 149730 149730 FGFR3 LADD syndrome, 149730 149730 FGFR2 LADD syndrome, 149730 149730 FGF10 Laing distal myopathy, 160500 160500 MYH7 Langer mesomelic dysplasia, 249700 249700 SHOX Langer mesomelic dysplasia, 249700 249700 SHOXY Laron dwarfism, 262500 262500 GHR Larsen syndrome, 150250 150250 FLNB Larsen-like syndrome LRSL Laryngoonychocutaneous syndrome, 245660 245660 LAMA3 Lathosterolosis, 607330 607330 SC5DL Laurin-Sandrow syndrome, 135750 135750 LMBR1 LCHAD deficiency, 609016 609016 HADHA LDL cholesterol level QTL2, 143890 143890 LDLR Leber congenital amaurosis 1, 204000 204000 GUCY2D Leber congenital amaurosis 10, 611755 611755 CEP290 Leber congenital amaurosis 11, 613837 613837 IMPDH1 Leber congenital amaurosis 12, 610612 610612 RD3 Leber congenital amaurosis 13, 612712 612712 RDH12 Leber congenital amaurosis 14, 613341 613341 LRAT Leber congenital amaurosis 15, 613843 613843 TULP1 Leber congenital amaurosis 16, 614186 614186 KCNJ13 Leber congenital amaurosis 17, 615360 615360 GDF6 Leber congenital amaurosis 18, 608133 608133 PRPH2 Leber congenital amaurosis 2, 204100 204100 RPE65 Leber congenital amaurosis 3, 604232 604232 SPATA7 Leber congenital amaurosis 4, 604393 604393 AIPL1 Leber congenital amaurosis 5, 604537 604537 LCA5 Leber congenital amaurosis 6, 613826 613826 RPGRIP1 Leber congenital amaurosis 7, 613829 613829 CRX Leber congenital amaurosis 8, 613835 613835 CRB1 Leber congenital amaurosis 9, 608553 608553 NMNAT1 Left ventricular noncompaction 1, with or without congenital heart defects, 604169 604169 DTNA Left ventricular noncompaction 10, 615396 615396 MYBPC3 Left ventricular noncompaction 2 LVNC2 Left ventricular noncompaction 3, 601493 601493 LDB3 Left ventricular noncompaction 4, 613424 613424 ACTC1 Left ventricular noncompaction 5, 613426 613426 MYH7 Left ventricular noncompaction 6, 601494 601494 TNNT2 Left ventricular noncompaction 7, 615092 615092 MIB1 Left ventricular noncompaction 8, 615373 615373 PRDM16 Left ventricular noncompaction 9, 611878 611878 TPM1 Left-right axis malformations EBAF Legg-Calve-Perthes disease, 150600 150600 COL2A1 Legius syndrome, 611431 611431 SPRED1 Leigh syndrome due to cytochrome c oxidase deficiency, 256000 256000 COX15 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 256000 NDUFA12 Leigh syndrome due to mitochondrial complex I deficiency, 256000 256000 NDUFA2 Leigh syndrome due to mitochondrial complex I deficiency, 256000 256000 NDUFS8 Leigh syndrome due to mitochondrial complex I deficiency, 256000 256000 NDUFA9 Leigh syndrome due to mitochondrial complex I deficiency, 256000 256000 NDUFS3 Leigh syndrome due to mitochondrial complex I deficiency, 256000 256000 NDUFAF6 Leigh syndrome due to mitochondrial complex I deficiency, 256000 256000 FOXRED1 Leigh syndrome due to mitochondrial COX4 deficiency, 256000 256000 COX10 Leigh syndrome, 256000 256000 SDHA Leigh syndrome, 256000 256000 NDUFS7 Leigh syndrome, 256000 256000 NDUFS4 Leigh syndrome, 256000 256000 BCS1L Leigh syndrome, 256000 256000 NDUFAF2 Leigh syndrome, due to COX deficiency, 256000 256000 SURF1 Leigh syndrome, French-Canadian type, 220111 220111 LRPPRC Leiomyoma, uterine, somatic, 150699 150699 HMGA2 Leiomyomatosis and renal cell cancer, 150800 150800 FH Lenz-Majewski hyperostotic dwarfism, 151050 151050 PTDSS1 LEOPARD syndrome 1, 151100 151100 PTPN11 LEOPARD syndrome 2, 611554 611554 RAF1 LEOPARD syndrome 3, 613707 613707 BRAF Leprechaunism, 246200 246200 INSR Leri pleonosteosis chromosome duplication syndrome DUP8q22.1 Leri-Weill dyschondrosteosis, 127300 127300 SHOX Leri-Weill dyschondrosteosis, 127300 127300 SHOXY Lesch-Nyhan syndrome, 300322 300322 HPRT1 Lethal congenital contractural syndrome 2, 607598 607598 ERBB3 Lethal congenital contractural syndrome 3, 611369 611369 PIP5K1C Lethal congenital contracture syndrome 1, 253310 253310 GLE1 Lethal congenital contracture syndrome 4, 614915 614915 MYBPC1 Lethal congenital contracture syndrome 5, 615368 615368 DNM2 Lethal congenital contracture syndrome 7, 616286 616286 CNTNAP1 Leukemia, acute lymphoblastic TCF3 Leukemia, acute lymphoblastic LALL Leukemia, acute lymphoblastic IKZF1 Leukemia, acute lymphoblastic, 613065 613065 NBS1 Leukemia, acute lymphoblastic, somatic, 613065 613065 FLT3 Leukemia, acute lymphocytic, 613065 613065 BCR Leukemia, acute myeloblastic ARNT Leukemia, acute myelogenous KRAS Leukemia, acute myelogenous, 601626 601626 JAK2 Leukemia, acute myelogenous, 601626 601626 GMPS Leukemia, acute myeloid, 601626 601626 NUP214 Leukemia, acute myeloid, 601626 601626 FLT3 Leukemia, acute myeloid, 601626 601626 RUNX1 Leukemia, acute myeloid, 601626 601626 NPM1 Leukemia, acute myeloid, 601626 601626 KIT Leukemia, acute myeloid, 601626 601626 LPP Leukemia, acute myeloid, 601626 601626 MLF1 Leukemia, acute myeloid, 601626 601626 SH3GL1 Leukemia, acute myeloid, 601626 601626 AF10 Leukemia, acute myeloid, 601626 601626 PICALM Leukemia, acute myeloid, 601626 601626 ARHGEF12 Leukemia, acute myeloid, 601626 601626 NSD1 Leukemia, acute myeloid, 601626 601626 WHSC1L1 Leukemia, acute myeloid, reduced survival in, 601626 601626 FLT3 Leukemia, acute myeloid, somatic, 601626 601626 CEBPA Leukemia, acute myeloid, somatic, 601626 601626 ETV6 Leukemia, acute myeloid, therapy-related SEPT9 Leukemia, acute myeloid, with eosinophilia ABL2 Leukemia, acute myelomonocytic MLLT11 Leukemia, acute nonlymphocytic DEK Leukemia, acute pre-B-cell PBX1 Leukemia, acute promyelocytic, 612376 612376 RARA Leukemia, acute promyelocytic, NPM/RARA type NPM1 Leukemia, acute promyelocytic, NUMA/RARA type NUMA1 Leukemia, acute promyelocytic, PL2F/RARA type ZBTB16 Leukemia, acute promyelocytic, PML/RARA type PML Leukemia, acute promyelocytic, STAT5B/RARA type STAT5B Leukemia, acute T-cell LMO2 Leukemia, acute T-cell lymphoblastic AF10 Leukemia, acute T-cell lymphoblastic PICALM Leukemia, chronic myeloid, 608232 608232 BCR Leukemia, juvenile myelomonocytic, 607785 607785 PTPN11 Leukemia, juvenile myelomonocytic, 607785 607785 ARHGAP26 Leukemia, juvenile myelomonocytic, 607785 607785 NF1 Leukemia, megakaryoblastic, with or without Down syndrome, somatic, 190685 190685 GATA1 Leukemia, myeloid/lymphoid or mixed-lineage KMT2A Leukemia, Philadelphia chromosome-positive, resistant to imatinib ABL1 Leukemia, T-cell acute lymphoblastic NUP214 Leukemia, T-cell acute lymphoblastic LMO1 Leukemia, T-cell acute lymphoblastoid LYL1 Leukemia, transient, of Down syndrome TAM Leukemia/lymphoma, B-cell, 2 2 BCL2 Leukemia/lymphoma, B-cell, 3 3 BCL3 Leukemia/lymphoma, T-cell TCL4 Leukemia/lymphoma, T-cell TCL1A Leukemia/lymphoma, T-cell TCL1B Leukemia-1, T-cell acute lymphocytic TAL1 Leukemia-2, T-cell acute lymphoblastic TAL2 Leukocyte adhesion deficiency, 116920 116920 ITGB2 Leukocyte adhesion deficiency, type III, 612840 612840 KIND3 Leukodystrophy, adult-onset, autosomal dominant, 169500 169500 LMNB1 Leukodystrophy, hypomyelinating, 2, 608804 608804 GJC2 Leukodystrophy, hypomyelinating, 3, 260600 260600 AIMP1 Leukodystrophy, hypomyelinating, 4, 612233 612233 HSPD1 Leukodystrophy, hypomyelinating, 5, 610532 610532 FAM126A Leukodystrophy, hypomyelinating, 6, 612438 612438 TUBB4A Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 607694 POLR3A Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 614381 POLR3B Leukodystrophy, hypomyelinating, 9, 616140 616140 RARS Leukoencephalopathy with ataxia, 615651 615651 CLCN2 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 611105 DARS2 Leukoencephalopathy with dystonia and motor neuropathy, 613724 613724 SCP2 Leukoencephalopathy with metaphyseal chondrodysplasia LKMCD Leukoencephalopathy with vanishing white matter, 603896 603896 EIF2B5 Leukoencephalopathy with vanishing white matter, 603896 603896 EIF2B3 Leukoencephalopathy with vanishing white matter, 603896 603896 EIF2B2 Leukoencephalopathy with vanishing white matter, 603896 603896 EIF2B1 Leukoencephalopathy, cystic, without megalencephaly, 612951 612951 RNASET2 Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 221820 CSF1R Leukoencephalopathy, progressive, with ovarian failure, 615889 615889 AARS2 Leukoencephaly with vanishing white matter, 603896 603896 EIF2B4 Leukotriene C4 synthase deficiency, 614037 614037 LTC4S Levy-Shanske syndrome LVSKS Leydig cell adenoma, somatic, with precocious puberty, 176410 176410 LHCGR Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320 238320 LHCGR Leydig cell hypoplasia with pseudohermaphroditism, 238320 238320 LHCGR L-ferritin deficiency, dominant and recessive, 615604 615604 FTL Lhermitte-Duclos syndrome, 158350 158350 PTEN Liddle syndrome, 177200 177200 SCNN1B Liddle syndrome, 177200 177200 SCNN1G Liebenberg syndrome, 186550 186550 PITX1 Li-Fraumeni syndrome 3 LFS3 Li-Fraumeni syndrome, 151623 151623 TP53 Li-Fraumeni syndrome, 609265 609265 CHEK2 LIG4 syndrome, 606593 606593 LIG4 Limb-girdle muscular dystrophy, type 1G, 609115 609115 HNRNPDL Limb-mammary syndrome, 603543 603543 TP63 Linear skin defects with multiple congenital anomalies 1, 309801 309801 HCCS Linear skin defects with multiple congenital anomalies 3, 300952 300952 NDUFB11 Linear skin defects with multiple congenital anomalies, 300887 300887 COX7B Lipase deficiency, combined, 246650 246650 LMF1 Lipodystrophy, congenital generalized, type 1, 608594 608594 AGPAT2 Lipodystrophy, congenital generalized, type 2, 269700 269700 BSCL2 Lipodystrophy, congenital generalized, type 4, 613327 613327 PTRF Lipodystrophy, familial partial, 2, 151660 151660 LMNA Lipodystrophy, familial partial, type 3, 604367 604367 PPARG Lipodystrophy, familial partial, type 4, 613877 613877 PLIN1 Lipodystrophy, familial partial, type 6, 615980 615980 LIPE Lipoid adrenal hyperplasia, 201710 201710 STAR Lipoma LPP Lipoma, somatic MEN1 Lipoprotein glomerulopathy, 611771 611771 APOE Lipoprotein lipase deficiency, 238600 238600 LPL Liposarcoma LPSA Lipoyltransferase 1 deficiency, 616299 616299 LIPT1 Lissencephaly 1, 607432 607432 PAFAH1B1 Lissencephaly 2 RELN Lissencephaly 3, 611603 611603 TUBA1A Lissencephaly 4 NDE1 Lissencephaly 5, 615191 615191 LAMB1 Lissencephaly 6, with microcephaly, 616212 616212 KATNB1 Lissencephaly, X-linked 2, 300215 300215 ARX Lissencephaly, X-linked, 300067 300067 DCX Liver failure, transient infantile, 613070 613070 TRMU Loeys-Dietz syndrome, type 1, 609192 609192 TGFBR1 Loeys-Dietz syndrome, type 2, 610168 610168 TGFBR2 Loeys-Dietz syndrome, type 3, 613795 613795 SMAD3 Loeys-Dietz syndrome, type 4, 614816 614816 TGFB2 Long QT syndrome 1, 192500 192500 KCNQ1 Long QT syndrome 12, 612955 612955 SNT1 Long QT syndrome 13, 613485 613485 KCNJ5 Long QT syndrome 14, 616247 616247 CALM1 Long QT syndrome 15, 616249 616249 CALM2 Long QT syndrome 2, 613688 613688 KCNH2 Long QT syndrome 4, 600919 600919 ANK2 Long QT syndrome 5, 613695 613695 KCNE1 Long QT syndrome 6, 613693 613693 KCNE2 Long QT syndrome 9, 611818 611818 CAV3 Long QT syndrome-10, 611819 611819 SCN4B Long QT syndrome-11, 611820 611820 AKAP9 Long QT syndrome-3, 603830 603830 SCN5A Lowe syndrome, 309000 309000 OCRL Lujan-Fryns syndrome, 309520 309520 MED12 Lung cancer, 211980 211980 PPP2R1B Lung cancer, 211980 211980 DLEC1 Lung cancer, 211980 211980 RASSF1 Lung cancer, somatic, 211980 211980 KRAS Lung cancer, somatic, 211980 211980 MAP3K8 Lung cancer, somatic, 211980 211980 SLC22A1L Luteinizing hormone resistance, female, 238320 238320 LHCGR Lymphangioleiomyomatosis, 606690 606690 TSC1 Lymphangioleiomyomatosis, somatic, 606690 606690 TSC2 Lymphedema, hereditary, IA, 153100 153100 FLT4 Lymphedema, hereditary, IB LMPH1B Lymphedema, hereditary, IC, 613480 613480 GJC2 Lymphedema, hereditary, ID, 615907 615907 VEGFC Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 153400 FOXC2 Lymphedema-distichiasis syndrome, 153400 153400 FOXC2 Lymphocytic leukemia, acute T-cell RAP1GDS1 Lymphoma, B-cell BCL6 Lymphoma, B-cell non-Hodgkin, somatic ATM Lymphoma, MALT, somatic, 137245 137245 BCL10 Lymphoma, mantle cell ATM Lymphoma, non-Hodgkin, 605027 605027 PRF1 Lymphoma, non-Hodgkin, somatic, 605027 605027 RAD54L Lymphoma, non-Hodgkin, somatic, 605027 605027 RAD54B Lymphoma, somatic MAD1L1 Lymphoma/leukemia, B-cell, variant FVT1 Lymphoproliferative syndrome 1, 613011 613011 ITK Lymphoproliferative syndrome 2, 615122 615122 TNFRSF7 Lymphoproliferative syndrome, X-linked, 1, 308240 308240 SH2D1A Lymphoproliferative syndrome, X-linked, 2, 300635 300635 XIAP Lysinuric protein intolerance, 222700 222700 SLC7A7 Lysyl hydroxylase 3 deficiency, 612394 612394 PLOD3 Machado-Joseph disease, 109150 109150 ATXN3 Macrocephaly with multiple epiphyseal dysplasia and distinctive facies MMEDF Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 613075 RIN2 Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192 614192 RNF135 Macrocephaly/autism syndrome, 605309 605309 PTEN Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000 248000 TBC1D7 Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 153550 RPS14 Macroglobulinemia, Waldenstrom, somatic, 153600 153600 MYD88 Macrostomia MACST Macrothrombocytopenia and progressive sensorineural deafness, 600208 600208 MYH9 Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 613112 TUBB1 Macular corneal dystrophy, 217800 217800 CHST6 Macular degeneration, age-related, 11, 611953 611953 CST3 Macular degeneration, age-related, 3, 608895 608895 FBLN5 Macular degeneration, age-related, 6, 613757 613757 RAXL1 Macular degeneration, early-onset, 616118 616118 FBN2 Macular degeneration, juvenile, 248200 248200 CNGB3 Macular degeneration, X-linked atrophic, 300834 300834 RPGR Macular dystrophy with central cone involvement, 616170 616170 MFSD8 Macular dystrophy, butterfly-shaped pigmentary, 2 2 MDBS2 Macular dystrophy, dominant cystoid MDDC Macular dystrophy, North Carolina type MCDR1 Macular dystrophy, patterned, 1, 169150 169150 PRPH2 Macular dystrophy, retinal, 2, 608051 608051 PROM1 Macular dystrophy, retinal, 3 3 MCDR3 Macular dystrophy, vitelliform, 3, 608161 608161 PRPH2 Macular dystrophy, vitelliform, 4, 616151 616151 IMPG1 Macular dystrophy, vitelliform, 5, 616152 616152 IMPG2 Majeed syndrome, 609628 609628 LPIN2 Major affective disorder 4 MAFD4 Major depressive disorder 1, 608516 608516 MDD1 Major depressive disorder 2, 608516 608516 MDD2 Male germ cell tumor MGCT Malignant fibrous histiocytoma MFHAS1 Malignant melanoma, somatic, 155600 155600 PTEN Malonyl-CoA decarboxylase deficiency, 248360 248360 MLYCD Malouf syndrome, 212112 212112 LMNA Mammary-digital-nail syndrome MDNS Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 615381 POLD1 Mandibuloacral dysplasia with type B lipodystrophy, 608612 608612 ZMPSTE24 Mandibuloacral dysplasia, 248370 248370 LMNA Mandibulofacial dysostosis with alopecia, 616367 616367 EDNRA Mandibulofacial dysostosis, Guion-Almeida type, 610536 610536 EFTUD2 Manitoba oculotrichoanal syndrome, 248450 248450 FREM1 Mannosidosis, alpha-, types I and II, 248500 248500 MAN2B1 Mannosidosis, beta, 248510 248510 MANBA Maple syrup urine disease, mild variant, 615135 615135 PPM1K Maple syrup urine disease, type Ia, 248600 248600 BCKDHA Maple syrup urine disease, type Ib, 248600 248600 BCKDHB Maple syrup urine disease, type II, 248600 248600 DBT Marfan syndrome, 154700 154700 FBN1 Marinesco-Sjogren syndrome, 248800 248800 SIL1 Marshall syndrome, 154780 154780 COL11A1 Marshall-Smith syndrome, 602535 602535 NFIX Martsolf syndrome, 212720 212720 RAB3GAP2 MASA syndrome, 303350 303350 L1CAM MASP2 deficiency, 613791 613791 MASP2 MASS syndrome, 604308 604308 FBN1 Mast cell disease, 154800 154800 KIT Mast syndrome, 248900 248900 ACP33 Maturity-onset diabetes of the young 6, 606394 606394 NEUROD1 Maturity-onset diabetes of the young, type 10, 613370 613370 INS Maturity-onset diabetes of the young, type 11, 613375 613375 BLK Maturity-onset diabetes of the young, type 13, 616329 616329 KCNJ11 Maturity-onset diabetes of the young, type IX, 612225 612225 PAX4 Maturity-onset diabetes of the young, type VII, 610508 610508 KLF11 Maturity-onset diabetes of the young, type VIII, 609812 609812 CEL May-Hegglin anomaly, 155100 155100 MYH9 McArdle disease, 232600 232600 PYGM McCune-Albright syndrome, somatic, mosaic 174800 GNAS McKusick-Kaufman syndrome, 236700 236700 MKKS McLeod syndrome with or without chronic granulomatous disease, 300842 300842 XK Meacham syndrome, 608978 608978 WT1 Mean platelet volume QTL4 MPVQTL4 Mean platelet volume QTL5 MPVQTL5 Mean platelet volume QTL6 MPVQTL6 Meckel syndrome 1, 249000 249000 MKS1 Meckel syndrome 10, 614175 614175 B9D2 Meckel syndrome 2, 603194 603194 TMEM216 Meckel syndrome 3, 607361 607361 TMEM67 Meckel syndrome 4, 611134 611134 CEP290 Meckel syndrome 5, 611561 611561 RPGRIP1L Meckel syndrome 6, 612284 612284 CC2D2A Meckel syndrome 7, 267010 267010 NPHP3 Meckel syndrome, type 11, 615397 615397 TMEM231 Meconium ileus, 614665 614665 GUCY2C MEDNIK syndrome, 609313 609313 AP1S1 Medullary cystic kidney disease 1, 174000 174000 MUC1 Medullary cystic kidney disease 2, 603860 603860 UMOD Medullary thyroid carcinoma, 155240 155240 RET Medullary thyroid carcinoma, familial, 155240 155240 NTRK1 Medulloblastoma, 155255 155255 PTCH2 Medulloblastoma, desmoplastic, 155255 155255 SUFU Meesmann corneal dystrophy, 122100 122100 KRT3 Meesmann corneal dystrophy, 122100 122100 KRT12 Megakaryoblastic leukemia, acute RBM15 Megakaryoblastic leukemia, acute MKL1 Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 613925 HEPACAM Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 613926 HEPACAM Megalencephalic leukoencephalopathy with subcortical cysts, 604004 604004 MLC1 Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 602501 PIK3CA Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 603387 PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937 615937 AKT3 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 615938 CCND2 Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 613839 DHFR Megaloblastic anemia-1, Finnish type, 261100 261100 CUBN Megaloblastic anemia-1, Norwegian type, 261100 261100 AMN Megalocornea 1, X-linked 309300 CHRDL1 MEHMO syndrome MEHMO Meier-Gorlin syndrome 1, 224690 224690 ORC1 Meier-Gorlin syndrome 2, 613800 613800 ORC4 Meier-Gorlin syndrome 3, 613803 613803 ORC6 Meier-Gorlin syndrome 4, 613804 613804 CDT1 Meier-Gorlin syndrome 5, 613805 613805 CDC6 Melanocytic nevus syndrome, congenital, somatic, 137550 137550 NRAS Melanoma and neural system tumor syndrome, 155755 155755 CDKN2A Melanoma, malignant, somatic BRAF Melanoma, malignant, somatic STK11 Meleda disease, 248300 248300 SLURP1 Melnick-Needles syndrome, 309350 309350 FLNA Melorheostosis with osteopoikilosis, 155950 155950 LEMD3 Membranous glomerulonephritis, antenatal, 614692 614692 MME Meningioma, 607174 607174 MN1 Meningioma, NF2-related, somatic, 607174 607174 NF2 Meningioma, radiation-induced MNRI Meningioma, SIS-related, 607174 607174 PDGFB Menkes disease, 309400 309400 ATP7A Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 300749 CASK Mental retardation syndrome, X-linked, Armfield type MRXSA Mental retardation syndrome, X-linked, Siderius type, 300263 300263 PHF8 Mental retardation with language impairment and with or without autistic features, 613670 613670 FOXP1 Mental retardation, anterior maxillary protrusion, and strabismus, 613671 613671 SOBP Mental retardation, autosomal dominant 1, 156200 156200 MBD5 Mental retardation, autosomal dominant 10, 614256 614256 CACNG2 Mental retardation, autosomal dominant 12, 614562 614562 ARID1B Mental retardation, autosomal dominant 13, 614563 614563 DYNC1H1 Mental retardation, autosomal dominant 14, 614607 614607 ARID1A Mental retardation, autosomal dominant 15, 614608 614608 SMARCB1 Mental retardation, autosomal dominant 16, 614609 614609 SMARCA4 Mental retardation, autosomal dominant 17, 615009 615009 PACS1 Mental retardation, autosomal dominant 18, 615074 615074 GATAD2B Mental retardation, autosomal dominant 19, 615075 615075 CTNNB1 Mental retardation, autosomal dominant 2, 614113 614113 DOCK8 Mental retardation, autosomal dominant 21, 615502 615502 CTCF Mental retardation, autosomal dominant 23, 615761 615761 SETD5 Mental retardation, autosomal dominant 24, 615828 615828 DEAF1 Mental retardation, autosomal dominant 26, 615834 615834 KIAA0442 Mental retardation, autosomal dominant 29, 616078 616078 SETBP1 Mental retardation, autosomal dominant 3, 612580 612580 CDH15 Mental retardation, autosomal dominant 30, 616083 616083 ZMYND11 Mental retardation, autosomal dominant 31, 616158 616158 PURA Mental retardation, autosomal dominant 32, 616268 616268 KAT6A Mental retardation, autosomal dominant 33, 616311 616311 DPP6 Mental retardation, autosomal dominant 34, 616351 616351 COL4A3BP Mental retardation, autosomal dominant 35, 616355 616355 PPP2R5D Mental retardation, autosomal dominant 36, 616362 616362 PPP2R1A Mental retardation, autosomal dominant 37, 616364 616364 POGZ Mental retardation, autosomal dominant 4, 612581 612581 KIRREL3 Mental retardation, autosomal dominant 5, 612621 612621 SYNGAP1 Mental retardation, autosomal dominant 6, 613970 613970 GRIN2B Mental retardation, autosomal dominant 7, 614104 614104 DYRK1A Mental retardation, autosomal dominant 8, 614254 614254 GRIN1 Mental retardation, autosomal dominant 9, 614255 614255 KIF1A Mental retardation, autosomal dominant, 27, 615866 615866 SOX11 Mental retardation, autosomal recessive 1, 249500 249500 PRSS12 Mental retardation, autosomal recessive 10/20 MRT10 Mental retardation, autosomal recessive 12, 611090 611090 ST3GAL3 Mental retardation, autosomal recessive 13, 613192 613192 TRAPPC9 Mental retardation, autosomal recessive 14, 614020 614020 TECR Mental retardation, autosomal recessive 15, 614202 614202 MAN1B1 Mental retardation, autosomal recessive 16 MRT16 Mental retardation, autosomal recessive 18, 614249 614249 MED23 Mental retardation, autosomal recessive 19 MRT19 Mental retardation, autosomal recessive 2, 607417 607417 CRBN Mental retardation, autosomal recessive 23 MRT23 Mental retardation, autosomal recessive 24 MRT24 Mental retardation, autosomal recessive 25 MRT25 Mental retardation, autosomal recessive 27, 614340 614340 LINS1 Mental retardation, autosomal recessive 28 MRT28 Mental retardation, autosomal recessive 29 MRT29 Mental retardation, autosomal recessive 3, 608443 608443 CC2D1A Mental retardation, autosomal recessive 30 MRT30 Mental retardation, autosomal recessive 31 MRT31 Mental retardation, autosomal recessive 32 MRT32 Mental retardation, autosomal recessive 33 MRT33 Mental retardation, autosomal recessive 34, 614499 614499 CRADD Mental retardation, autosomal recessive 35, 615162 615162 MRT35 Mental retardation, autosomal recessive 36, 615286 615286 ADAT3 Mental retardation, autosomal recessive 38, 615516 615516 HERC2 Mental retardation, autosomal recessive 39, 615541 615541 TTI2 Mental retardation, autosomal recessive 40, 615599 615599 TAF2 Mental retardation, autosomal recessive 41, 615637 615637 KPTN Mental retardation, autosomal recessive 44, 615942 615942 METTL23 Mental retardation, autosomal recessive 46, 616116 616116 NDST1 Mental retardation, autosomal recessive 47, 616193 616193 FMN2 Mental retardation, autosomal recessive 48, 616269 616269 SLC6A17 Mental retardation, autosomal recessive 5, 611091 611091 NSUN2 Mental retardation, autosomal recessive 7, 611093 611093 TUSC3 Mental retardation, autosomal recessive, 11 11 MRT11 Mental retardation, autosomal recessive, 4 4 MRT4 Mental retardation, autosomal recessive, 6, 611092 611092 GRIK2 Mental retardation, autosomal recessive, 8 MRT8 Mental retardation, autosomal recessive, 9/26 MRT9 Mental retardation, FRA12A type, 136630 136630 DIP2B Mental retardation, severe, with spasticity and tapetoretinal degeneration MRST Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443 613443 MEF2C Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 610156 INPP5E Mental retardation, with or without nystagmus, 300422 300422 CASK Mental retardation, X-linked 1, 309530 309530 IQSEC2 Mental retardation, X-linked 14 MRX14 Mental retardation, X-linked 19, 300844 300844 RPS6KA3 Mental retardation, X-linked 2 MRX2 Mental retardation, X-linked 20 MRX20 Mental retardation, X-linked 21/34, 300143 300143 IL1RAPL1 Mental retardation, X-linked 23 MRX23 Mental retardation, X-linked 29 and others, 300419 300419 ARX Mental retardation, X-linked 3 HCFC1 Mental retardation, X-linked 30/47, 300558 300558 PAK3 Mental retardation, X-linked 41, 300849 300849 GDI1 Mental retardation, X-linked 42 MRX42 Mental retardation, X-linked 45, 300498 300498 ZNF81 Mental retardation, X-linked 46, 300436 300436 ARHGEF6 Mental retardation, X-linked 49 MRX49 Mental retardation, X-linked 50 MRX50 Mental retardation, X-linked 52 MRX52 Mental retardation, X-linked 53 MRX53 Mental retardation, X-linked 58, 300210 300210 TSPAN7 Mental retardation, X-linked 63, 300387 300387 ACSL4 Mental retardation, X-linked 72, 300271 300271 RAB39B Mental retardation, X-linked 73 MRX73 Mental retardation, X-linked 77 MRX77 Mental retardation, X-linked 78 MRX78 Mental retardation, X-linked 81 MRX81 Mental retardation, X-linked 82 MRX82 Mental retardation, X-linked 84 MRX84 Mental retardation, X-linked 88 MRX88 Mental retardation, X-linked 89 MRX89 Mental retardation, X-linked 9, 309549 309549 FTSJ1 Mental retardation, X-linked 90, 300850 300850 DLG3 Mental retardation, X-linked 92 MRX92 Mental retardation, X-linked 93, 300659 300659 BRWD3 Mental retardation, X-linked 94, 300699 300699 GRIA3 Mental retardation, X-linked 95 MRX95 Mental retardation, X-linked 96, 300802 300802 SYP Mental retardation, X-linked 97, 300803 300803 ZNF711 Mental retardation, X-linked 98, 300912 300912 KIAA2022 Mental retardation, X-linked 99, 300919 300919 USP9X Mental retardation, X-linked syndromic 16, 305400 305400 FGD1 Mental retardation, X-linked syndromic 5, 304340 304340 AP1S2 Mental retardation, X-linked syndromic 7 MRXS7 Mental retardation, X-linked syndromic, Abidi type MRXSAB Mental retardation, X-linked syndromic, Christianson type, 300243 300243 SLC9A6 Mental retardation, X-linked syndromic, Lubs type, 300260 300260 MECP2 Mental retardation, X-linked syndromic, Nascimento-type, 300860 300860 UBE2A Mental retardation, X-linked syndromic, Raymond type, 300799 300799 ZDHHC9 Mental retardation, X-linked syndromic, Shashi type MRXS11 Mental retardation, X-linked syndromic, Turner type, 300706 300706 HUWE1 Mental retardation, X-linked, 300495 300495 NLGN4 Mental retardation, X-linked, FRAXE type, 309548 309548 AFF2 Mental retardation, X-linked, Snyder-Robinson type, 309583 309583 SMS Mental retardation, X-linked, syndromic 13, 300055 300055 MECP2 Mental retardation, X-linked, syndromic 14, 300676 300676 UPF3B Mental retardation, X-linked, syndromic 15 CUL4B Mental retardation, X-linked, syndromic 17 MRXS17 Mental retardation, X-linked, syndromic 9 MRXS9 Mental retardation, X-linked, syndromic, Chudley-Schwartz type, MRXSCS Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 300534 KDM5C Mental retardation, X-linked, syndromic, Martin-Probst type MRXSMP Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 300486 OPHN1 Mental retardation, X-linked, with isolated growth hormone deficiency, 300123 300123 SOX3 Mental retardation, X-linked, with short stature MRSS Mental retardation-hypotonic facies syndrome, X-linked, 309580 309580 ATRX Mental retardation-skeletal dysplasia MRSD Mephenytoin poor metabolizer, 609535 609535 CYP2C Merkel cell carcinoma, somatic SDHD Mesomelia-synostoses syndrome DEL8q13 Mesomelic dysplasia, Kantaputra type MMDK Mesothelioma, somatic, 156240 156240 WT1 Metacarpal 4-5 fusion, 309630 309630 FGF16 Metachondromatosis, 156250 156250 PTPN11 Metachromatic leukodystrophy due to SAP-b deficiency, 249900 249900 PSAP Metachromatic leukodystrophy, 250100 250100 ARSA Metaphyseal anadysplasia 1, 602111 602111 MMP13 Metaphyseal anadysplasia 2, 613073 613073 MMP9 Metaphyseal chondrodysplasia, Murk Jansen type, 156400 156400 PTHR1 Metaphyseal chondrodysplasia, Schmid type, 156500 156500 COL10A1 Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510 156510 RUNX2 Metaphyseal dysplasia without hypotrichosis, 250460 250460 RMRP Metatropic dysplasia, 156530 156530 TRPV4 Methemoglobinemia, type I, 250800 250800 CYB5R3 Methemoglobinemia, type II, 250800 250800 CYB5R3 Methemoglobinemia, type IV, 250790 250790 CYB5A Methemoglobinemias, alpha- HBA1 Methemoglobinemias, beta- HBB Methionine adenosyltransferase deficiency, autosomal recessive, 250850 250850 MAT1A Methylmalonate semialdehyde dehydrogenase deficiency, 614105 614105 ALDH6A1 Methylmalonic aciduria and homocystinuria, cblC type, 277400 277400 MMACHC Methylmalonic aciduria and homocystinuria, cblD type, 277410 277410 C2orf25 Methylmalonic aciduria and homocystinuria, cblF type, 277380 277380 LMBRD1 Methylmalonic aciduria and homocystinuria, cblJ type, 614857 614857 ABCD4 Methylmalonic aciduria due to transcobalamin receptor defect, 613646 613646 CD320 Methylmalonic aciduria, cblD type, variant 2, 277410 277410 C2orf25 Methylmalonic aciduria, mut MUT Methylmalonic aciduria, vitamin B12-responsive, 251100 251100 MMAA Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 251110 MMAB Methylmalonyl-CoA epimerase deficiency, 251120 251120 MCEE Mevalonic aciduria, 610377 610377 MVK MHC class II deficiency, complementation group B, 209920 209920 RFXANK Microcephalic osteodysplastic primordial dwarfism, type I, 210710 210710 RNU4ATAC Microcephalic osteodysplastic primordial dwarfism, type II, 210720 210720 PCNT Microcephaly 1, primary, autosomal recessive, 251200 251200 MCPH1 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 604317 WDR62 Microcephaly 3, primary, autosomal recessive, 604804 604804 CDK5RAP2 Microcephaly 4, primary, autosomal recessive, 604321 604321 CASC5 Microcephaly 5, primary, autosomal recessive, 608716 608716 ASPM Microcephaly 6, primary, autosomal recessive, 608393 608393 CENPJ Microcephaly 7, primary, autosomal recessive, 612703 612703 STIL Microcephaly 9, primary, autosomal recessive, 614852 614852 CEP152 Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 251270 TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 616171 PLK4 Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 616335 TUBGCP4 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 152950 KIF11 Microcephaly, Amish type, 607196 607196 SLC25A19 Microcephaly, epilepsy, and diabetes syndrome, 614231 614231 IER3IP1 Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations MMRFCGU Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 613668 MED17 Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 615760 QARS Microcephaly, seizures, and developmental delay, 613402 613402 PNKP Microcephaly, short stature, and impaired glucose metabolism, 616033 616033 TRMT10A Microcephaly-capillary malformation syndrome, 614261 614261 STAMBP Microcoria, congenital MCOR Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 615458 ADAMTS18 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 193220 BEST1 Microhydranencephaly MHAC Microphthalmia with cataract 1 MCOPCT1 Microphthalmia with coloboma 1 MCOPCB1 Microphthalmia with coloboma 2 MCOPCB2 Microphthalmia with coloboma 3, 610092 610092 CHX10 Microphthalmia with coloboma 5, 611638 611638 SHH Microphthalmia with coloboma 6, 613703 613703 GDF3 Microphthalmia with coloboma 6, digenic, 613703 613703 GDF6 Microphthalmia with limb anomalies, 206920 206920 SMOC1 Microphthalmia, isolated 1 MCOP1 Microphthalmia, isolated 2, 610093 610093 CHX10 Microphthalmia, isolated 3, 611038 611038 RAX Microphthalmia, isolated 4, 613094 613094 GDF6 Microphthalmia, isolated 5, 611040 611040 MFRP Microphthalmia, isolated 6, 613517 613517 PRSS56 Microphthalmia, isolated 7, 613704 613704 GDF3 Microphthalmia, isolated 8, 615113 615113 ALDH1A3 Microphthalmia, isolated, with coloboma 7, 614497 614497 ABCB6 Microphthalmia, isolated, with coloboma 8, 601186 601186 STRA6 Microphthalmia, syndromic 12, 615524 615524 RARB Microphthalmia, syndromic 14, 615877 615877 MAB21L2 Microphthalmia, syndromic 2, 300166 300166 BCOR Microphthalmia, syndromic 3, 206900 206900 SOX2 Microphthalmia, syndromic 5, 610125 610125 OTX2 Microphthalmia, syndromic 6, 607932 607932 BMP4 Microphthalmia, syndromic 8 MCOPS8 Microphthalmia, syndromic 9, 601186 601186 STRA6 Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 251750 LTBP2 Microtia with nasolacrimal duct imperforation and eye coloboma MNDEC Microvillus inclusion disease, 251850 251850 MYO5B Migraine, familial basilar, 602481 602481 ATP1A2 Migraine, familial hemiplegic, 1, 141500 141500 CACNA1A Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 141500 CACNA1A Migraine, familial hemiplegic, 2, 602481 602481 ATP1A2 Migraine, familial hemiplegic, 3, 609634 609634 SCN1A Miles-Carpenter syndrome MCS Miller syndrome, 263750 263750 DHODH Miller-Dieker lissencephaly syndrome MDLS Minicore myopathy with external ophthalmoplegia, 255320 255320 RYR1 Mirror movements 1, 157600 157600 DCC Mirror movements 2, 614508 614508 RAD51A Mismatch repair cancer syndrome, 276300 276300 MLH1 Mismatch repair cancer syndrome, 276300 276300 PMS2 Mismatch repair cancer syndrome, 276300 276300 MSH6 Mismatch repair cancer syndrome, 276300 276300 MSH2 Mitchell-Riley syndrome, 615710 615710 RFX6 Mitochondrial complex 1 deficiency, 252010 252010 NDUFAF5 Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 611126 ACAD9 Mitochondrial complex I deficiency, 252010 252010 NDUFS1 Mitochondrial complex I deficiency, 252010 252010 NDUFV1 Mitochondrial complex I deficiency, 252010 252010 NDUFA1 Mitochondrial complex I deficiency, 252010 252010 NDUFV2 Mitochondrial complex I deficiency, 252010 252010 NDUFS4 Mitochondrial complex I deficiency, 252010 252010 NDUFS2 Mitochondrial complex I deficiency, 252010 252010 NDUFB3 Mitochondrial complex I deficiency, 252010 252010 NDUFS3 Mitochondrial complex I deficiency, 252010 252010 NDUFAF1 Mitochondrial complex I deficiency, 252010 252010 NDUFAF2 Mitochondrial complex I deficiency, 252010 252010 NDUFAF4 Mitochondrial complex I deficiency, 252010 252010 NDUFA11 Mitochondrial complex I deficiency, 252010 252010 NDUFAF3 Mitochondrial complex I deficiency, 252010 252010 NUBPL Mitochondrial complex I deficiency, 252010 252010 FOXRED1 Mitochondrial complex II deficiency, 252011 252011 SDHAF1 Mitochondrial complex III deficiency, nuclear type 1, 124000 124000 BCS1L Mitochondrial complex III deficiency, nuclear type 3, 615158 615158 UQCRB Mitochondrial complex III deficiency, nuclear type 4, 615159 615159 UQCRQ Mitochondrial complex III deficiency, nuclear type 5, 615160 615160 UQCRC2 Mitochondrial complex III deficiency, nuclear type 6, 615453 615453 CYC1 Mitochondrial complex IV deficiency, 220110 220110 COX10 Mitochondrial complex IV deficiency, 220110 220110 TACO1 Mitochondrial complex IV deficiency, 220110 220110 COA5 Mitochondrial complex IV deficiency, 220110 220110 COX20 Mitochondrial complex IV deficiency, 220110 220110 PET100 Mitochondrial complex IV deficiency, 220110 220110 APOPT1 Mitochondrial complex V ATPAF2 Mitochondrial complex V TMEM70 Mitochondrial DNA depletion syndrome 1 TYMP Mitochondrial DNA depletion syndrome 11, 615084 615084 MGME1 Mitochondrial DNA depletion syndrome 12 SLC25A4 Mitochondrial DNA depletion syndrome 13 FBXL4 Mitochondrial DNA depletion syndrome 2 TK2 Mitochondrial DNA depletion syndrome 3 DGUOK Mitochondrial DNA depletion syndrome 4A POLG Mitochondrial DNA depletion syndrome 4B POLG Mitochondrial DNA depletion syndrome 5 SUCLA2 Mitochondrial DNA depletion syndrome 6 MPV17 Mitochondrial DNA depletion syndrome 7 C10orf2 Mitochondrial DNA depletion syndrome 8A RRM2B Mitochondrial DNA depletion syndrome 8B RRM2B Mitochondrial DNA depletion syndrome 9 SUCLG1 Mitochondrial myopathy and sideroblastic anemia 1, 600462 600462 PUS1 Mitochondrial phosphate carrier deficiency, 610773 610773 SLC25A3 Mitochondrial pyruvate carrier deficiency, 614741 614741 BRP44L Mitochondrial recessive ataxia syndrome POLG Mitochondrial respiratory chain complex II deficiency, 252011 252011 SDHA Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 616277 ECHS1 Mitral valve prolapse, myxomatous 1 MMVP1 Mitral valve prolapse, myxomatous 2 MMVP2 Mitral valve prolapse, myxomatous 3 MMVP3 Miyoshi muscular dystrophy 1, 254130 254130 DYSF Miyoshi muscular dystrophy 2 MMD2 Miyoshi muscular dystrophy 3, 613319 613319 ANO5 MODY, type I, 125850 125850 HNF4A MODY, type II, 125851 125851 GCK MODY, type III, 600496 600496 HNF1A MODY, type IV, 606392 606392 IPF1 Mohr-Tranebjaerg syndrome, 304700 304700 TIMM8A Molybdenum cofactor deficiency A, 252150 252150 MOCS1 Molybdenum cofactor deficiency B, 252160 252160 MOCS2 Molybdenum cofactor deficiency C, 615501 615501 GPHN Monilethrix, 158000 158000 KRT86 Monilethrix, 158000 158000 KRT81 Monocarboxylate transporter 1 deficiency, 616095 616095 SLC16A1 Mononeuropathy of the median nerve, mild, 613353 613353 SH3TC2 Morbid obesity and spermatogenic failure, 615703 615703 CEP19 Mosaic variegated aneuploidy syndrome 1, 257300 257300 BUB1B Mosaic variegated aneuploidy syndrome 2, 614114 614114 CEP57 Mowat-Wilson syndrome, 235730 235730 ZEB2 Moyamoya 6 with achalasia, 615750 615750 GUCY1A3 Moyamoya disease MYMY1 Moyamoya disease 3 MYMY3 Moyamoya disease 4 MYMY4 Moyamoya disease 5, 614042 614042 ACTA2 Muckle-Wells syndrome, 191900 191900 NLRP3 Mucoepidermoid salivary gland carcinoma CRTC1 Mucoepidermoid salivary gland carcinoma MAML2 Mucolipidosis II alpha/beta, 252500 252500 GNPTAB Mucolipidosis III alpha/beta, 252600 252600 GNPTAB Mucolipidosis III gamma, 252605 252605 GNPTAG Mucolipidosis IV, 252650 252650 MCOLN1 Mucopolysaccharidisis type IIIA SGSH Mucopolysaccharidosis Ih, 607014 607014 IDUA Mucopolysaccharidosis Ih/s, 607015 607015 IDUA Mucopolysaccharidosis II, 309900 309900 IDS Mucopolysaccharidosis Is, 607016 607016 IDUA Mucopolysaccharidosis IVA, 253000 253000 GALNS Mucopolysaccharidosis type IIIB NAGLU Mucopolysaccharidosis type IIIC HGSNAT Mucopolysaccharidosis type IIID, 252940 252940 GNS Mucopolysaccharidosis type IVB GLB1 Mucopolysaccharidosis type VI ARSB Mucopolysaccharidosis VII, 253220 253220 GUSB Muenke syndrome, 602849 602849 FGFR3 Muir-Torre syndrome, 158320 158320 MLH1 Muir-Torre syndrome, 158320 158320 MSH2 Mulibrey nanism, 253250 253250 TRIM37 Mullerian aplasia and hyperandrogenism, 158330 158330 WNT4 Multicentric carpotarsal osteolysis syndrome, 166300 166300 MAFB Multicentric osteolysis, nodulosis, and arthropathy, 259600 259600 MMP2 Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 614080 PIGN Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 300868 PIGA Multiple endocrine neoplasia 1, 131100 131100 MEN1 Multiple endocrine neoplasia IIA, 171400 171400 RET Multiple endocrine neoplasia IIB, 162300 162300 RET Multiple endocrine neoplasia, type IV, 610755 610755 CDKN1B Multiple fibroadenomas of the breast, 615554 615554 PRLR Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 245600 B3GAT3 Multiple mitochondrial dysfunctions syndrome 1, 605711 605711 NFU1 Multiple mitochondrial dysfunctions syndrome 2, 614299 614299 BOLA3 Multiple mitochondrial dysfunctions syndrome 4, 616370 616370 ISCA2 Multiple pterygium syndrome, lethal type, 253290 253290 CHRNA1 Multiple pterygium syndrome, lethal type, 253290 253290 CHRND Multiple pterygium syndrome, lethal type, 253290 253290 CHRNG Multiple sulfatase deficiency, 272200 272200 SUMF1 Multiple synostoses syndrome 1, 186500 186500 NOG Multiple synostoses syndrome 2, 610017 610017 GDF5 Multisystemic smooth muscle dysfunction syndrome, 613834 613834 ACTA2 Mungan syndrome MGS Muscle glycogenosis, 300559 300559 PHKA1 Muscle hypertrophy, 614160 614160 GDF8 Muscle strength quantitative trait locus 1 MUSTQTL1 Muscular dystrophy with epidermolysis bullosa simplex, 226670 226670 PLEC1 Muscular dystrophy with rimmed vacuoles MDRV Muscular dystrophy, congenital merosin-deficient, 607855 607855 LAMA2 Muscular dystrophy, congenital, 1B MDC1B Muscular dystrophy, congenital, 613205 613205 LMNA Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 613204 ITGA7 Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 607855 LAMA2 Muscular dystrophy, congenital, megaconial type, 602541 602541 CHKB Muscular dystrophy, congenital, merosin-positive MDCMP Muscular dystrophy, limb-girdle, type 1A, 159000 159000 MYOT Muscular dystrophy, limb-girdle, type 1B, 159001 159001 LMNA Muscular dystrophy, limb-girdle, type 1E, 603511 603511 DNAJB6 Muscular dystrophy, limb-girdle, type 1F, 608423 608423 TNPO3 Muscular dystrophy, limb-girdle, type 1H LGMD1H Muscular dystrophy, limb-girdle, type 2A, 253600 253600 CAPN3 Muscular dystrophy, limb-girdle, type 2B, 253601 253601 DYSF Muscular dystrophy, limb-girdle, type 2C, 253700 253700 SGCG Muscular dystrophy, limb-girdle, type 2D, 608099 608099 SGCA Muscular dystrophy, limb-girdle, type 2E, 604286 604286 SGCB Muscular dystrophy, limb-girdle, type 2F, 601287 601287 SGCD Muscular dystrophy, limb-girdle, type 2G, 601954 601954 TCAP Muscular dystrophy, limb-girdle, type 2H, 254110 254110 TRIM32 Muscular dystrophy, limb-girdle, type 2J, 608807 608807 TTN Muscular dystrophy, limb-girdle, type 2L, 611307 611307 ANO5 Muscular dystrophy, limb-girdle, type 2Q, 613723 613723 PLEC1 Muscular dystrophy, limb-girdle, type 2S, 615356 615356 TRAPPC11 Muscular dystrophy, limb-girdle, type IC, 607801 607801 CAV3 Muscular dystrophy, rigid spine, 1, 602771 602771 SEPN1 Muscular dystrophy-dystroglycanopathy DAG1 Muscular dystrophy-dystroglycanopathy LARGE Muscular dystrophy-dystroglycanopathy LARGE Muscular dystrophy-dystroglycanopathy B3GNT1 Muscular dystrophy-dystroglycanopathy TMEM5 Muscular dystrophy-dystroglycanopathy FKRP Muscular dystrophy-dystroglycanopathy FKRP Muscular dystrophy-dystroglycanopathy FKRP Muscular dystrophy-dystroglycanopathy POMGNT1 Muscular dystrophy-dystroglycanopathy POMGNT1 Muscular dystrophy-dystroglycanopathy POMGNT1 Muscular dystrophy-dystroglycanopathy POMT1 Muscular dystrophy-dystroglycanopathy POMT1 Muscular dystrophy-dystroglycanopathy POMT1 Muscular dystrophy-dystroglycanopathy POMT2 Muscular dystrophy-dystroglycanopathy POMT2 Muscular dystrophy-dystroglycanopathy POMT2 Muscular dystrophy-dystroglycanopathy FKTN Muscular dystrophy-dystroglycanopathy FKTN Muscular dystrophy-dystroglycanopathy FKTN Muscular dystrophy-dystroglycanopathy B3GALNT2 Muscular dystrophy-dystroglycanopathy ISPD Muscular dystrophy-dystroglycanopathy ISPD Muscular dystrophy-dystroglycanopathy POMGNT2 Muscular dystrophy-dystroglycanopathy POMK Muscular dystrophy-dystroglycanopathy GMPPB Muscular dystrophy-dystroglycanopathy GMPPB Muscular dystrophy-dystroglycanopathy GMPPB Myasthenia gravis with thymus hyperplasia MYAS1 Myasthenia, congenital, 12, with tubular aggregates, 610542 610542 GFPT1 Myasthenia, familial infantile, 1 1 CMS1A1 Myasthenic syndrome, congenital, 10, 254300 254300 DOK7 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 616326 RAPSN Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 614750 DPAGT1 Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 616228 ALG2 Myasthenic syndrome, congenital, 16, 614198 614198 SCN4A Myasthenic syndrome, congenital, 1A, slow-channel, 601462 601462 CHRNA1 Myasthenic syndrome, congenital, 1B, fast-channel, 608930 608930 CHRNA1 Myasthenic syndrome, congenital, 2A, slow-channel, 616313 616313 CHRNB1 Myasthenic syndrome, congenital, 3B, fast-channel, 616322 616322 CHRND Myasthenic syndrome, congenital, 4A, slow-channel, 605809 605809 CHRNE Myasthenic syndrome, congenital, 4B, fast-channel, 616324 616324 CHRNE Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 608931 CHRNE Myasthenic syndrome, congenital, 5, 603034 603034 COLQ Myasthenic syndrome, congenital, 6, presynaptic, 254210 254210 CHAT Myasthenic syndrome, congenital, 7, presynaptic, 616040 616040 SYT2 Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 615120 AGRN Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 616325 MUSK Myelodysplasia and leukemia syndrome with monosomy 7 MLSM7 Myelodysplasia syndrome-1 MDS1 Myelodysplastic syndrome ACSL6 Myelodysplastic syndrome, preleukemic IRF1 Myelodysplastic syndrome, somatic, 614286 614286 SF3B1 Myelodysplastic syndrome, somatic, 614286 614286 TET2 Myelodysplastic syndrome, somatic, 614286 614286 ASXL1 Myelofibrosis with myeloid metaplasia, somatic, 254450 254450 MPL Myelofibrosis, somatic, 254450 254450 CALR Myelofibrosis, somatic, 254450 254450 JAK2 Myelofibrosis, somatic, 254450 254450 SH2B3 Myelogenous leukemia, acute IRF1 Myelogenous leukemia, acute ACSL6 Myeloid leukemia, acute, M4/M4Eo subtype, somatic, 601626 601626 CBFB Myelokathexis, isolated CXCR4 Myeloperoxidase deficiency, 254600 254600 MPO Myeloproliferative disorder FGFR1OP Myeloproliferative disorder with eosinophilia, 131440 131440 PDGFRB Myhre syndrome, 139210 139210 MADH4 Myoclonic epilepsy, infantile, familial, 605021 605021 TBC1D24 Myoclonic epilepsy, juvenile, 4 4 EJM4 Myoclonus, familial cortical, 614937 614937 NOL3 Myofibromatosis, infantile, 1, 228550 228550 PDGFRB Myoglobinuria, acute recurrent, autosomal recessive, 268200 268200 LPIN1 Myokymia, 121200 121200 KCNQ2 Myopathy due to CPT II deficiency, 255110 255110 CPT2 Myopathy due to myoadenylate deaminase deficiency, 615511 615511 AMPD1 Myopathy with extrapyramidal signs, 615673 615673 MICU1 Myopathy with lactic acidosis, hereditary, 255125 255125 ISCU Myopathy, actin, congenital, with cores, 161800 161800 ACTA1 Myopathy, actin, congenital, with excess of thin myofilaments, 161800 161800 ACTA1 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 614399 MEGF10 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 614399 MEGF10 Myopathy, centronuclear, 160150 160150 DNM2 Myopathy, centronuclear, 3, 614408 614408 MYF6 Myopathy, centronuclear, 4, 614807 614807 CCDC78 Myopathy, centronuclear, autosomal recessive, 255200 255200 BIN1 Myopathy, congenital, with fiber-type disproportion 1, 255310 255310 ACTA1 Myopathy, congenital, with fiber-type disproportion, 255310 255310 TPM3 Myopathy, congenital, with fiber-type disproportion, 255310 255310 SEPN1 Myopathy, congenital, with fiber-type disproportion, X-linked CFTDX Myopathy, distal 3 MPD3 Myopathy, distal, 4, 614065 614065 FLNC Myopathy, distal, Tateyama type, 614321 614321 CAV3 Myopathy, distal, with anterior tibial onset, 606768 606768 DYSF Myopathy, early-onset, with fatal cardiomyopathy, 611705 611705 TTN Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 613561 YARS2 Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 613076 GFER Myopathy, myofibrillar, 1, 601419 601419 DES Myopathy, myofibrillar, 2, 608810 608810 CRYAB Myopathy, myofibrillar, 3, 609200 609200 MYOT Myopathy, myofibrillar, 4, 609452 609452 LDB3 Myopathy, myofibrillar, 5, 609524 609524 FLNC Myopathy, myofibrillar, 6, 612954 612954 BAG3 Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related, 613869 613869 CRYAB Myopathy, myosin storage, 608358 608358 MYH7 Myopathy, proximal, with early respiratory muscle involvement, 603689 603689 TTN Myopathy, reducing body, X-linked, childhood-onset, 300718 300718 FHL1 Myopathy, reducing body, X-linked, severe early-onset, 300717 300717 FHL1 Myopathy, spheroid body, 182920 182920 MYOT Myopathy, tubular aggregate, 1 160565 160565 STIM1 Myopathy, tubular aggregate, 2, 615883 615883 ORAI1 Myopathy, vacuolar, with CASQ1 aggregates, 616231 616231 CASQ1 Myopathy, X-linked, with excessive autophagy MEAX Myopathy, X-linked, with postural muscle atrophy, 300696 300696 FHL1 Myopia 10 MYP10 Myopia 11 MYP11 Myopia 12 MYP12 Myopia 13 MYP13 Myopia 14 MYP14 Myopia 15 MYP15 Myopia 16 MYP16 Myopia 17 MYP17 Myopia 18 MYP18 Myopia 19 MYP19 Myopia 20, autosomal dominant MYP20 Myopia 21, autosomal dominant, 614167 614167 ZNF644 Myopia 22, autosomal dominant, 615420 615420 CCDC111 Myopia 23, autosomal recessive, 615431 615431 LRPAP1 Myopia 24, autosomal dominant, 615946 615946 SLC39A5 Myopia 5 MYP5 Myopia 6, 608908 608908 SCO2 Myopia 7 MYP7 Myopia 8 MYP8 Myopia 9 MYP9 Myopia, high, with cataract and vitreoretinal degeneration, 614292 614292 P3H2 Myopia-1 MYP1 Myopia-2 MYP2 Myopia-3 MYP3 Myotonia congenita, atypical, acetazolamide-responsive, 608390 608390 SCN4A Myotonia congenita, dominant, 160800 160800 CLCN1 Myotonia congenita, recessive, 255700 255700 CLCN1 Myotonia levior, recessive CLCN1 Myotonic dystrophy 1, 160900 160900 DMPK Myotonic dystrophy 2, 602668 602668 ZNF9 Myotubular myopathy, X-linked, 310400 310400 MTM1 Myxoid liposarcoma, 613488 613488 DDIT3 Myxoma, intracardiac, 255960 255960 PRKAR1A Nablus mask-like facial syndrome NMLFS N-acetylglutamate synthase deficiency, 237310 237310 NAGS Naegeli-Franceschetti-Jadassohn syndrome, 161000 161000 KRT14 Nail disorder, nonsyndromic congenital, 10, FZD6 Nail disorder, nonsyndromic congenital, 3, PLCD1 Nail disorder, nonsyndromic congenital, 7 7 NDNC7 Nail disorder, nonsyndromic congenital, 9 NDNC9 Nail-patella syndrome, 161200 161200 LMX1B Nance-Horan syndrome, 302350 302350 NHS Nanophthalmos 2, 609549 609549 MFRP Nanophthalmos 3 NNO3 Nanophthalmos-1 NNO1 Narcolepsy 1, 161400 161400 HCRT Narcolepsy 2 NRCLP2 Narcolepsy 3 NRCLP3 Narcolepsy 6 NRCLP6 Narcolepsy 7, 614250 614250 MOG Nasopharyngeal carcinoma, 607107 607107 TP53 Nasu-Hakola disease, 221770 221770 TYROBP Nasu-Hakola disease, 221770 221770 TREM2 Native American myopathy, 255995 255995 STAC3 Natural killer cell and glucocorticoid deficiency with DNA repair defect, 609981 609981 MCM4 Naxos disease, 601214 601214 JUP Nemaline myopathy 1, autosomal dominant or recessive, 609284 609284 TPM3 Nemaline myopathy 10, 616165 616165 LMOD3 Nemaline myopathy 2, autosomal recessive, 256030 256030 NEB Nemaline myopathy 3, autosomal dominant or recessive, 161800 161800 ACTA1 Nemaline myopathy 4, autosomal dominant, 609285 609285 TPM2 Nemaline myopathy 5, Amish type, 605355 605355 TNNT1 Nemaline myopathy 6, autosomal dominant, 609273 609273 KBTBD13 Nemaline myopathy 7, autosomal recessive, 610687 610687 CFL2 Nemaline myopathy 8, autosomal recessive, 615348 615348 KLHL40 Nemaline myopathy 9, 615731 615731 KLHL41 Nephrogenic syndrome of inappropriate antidiuresis, 300539 300539 AVPR2 Nephrolithiasis, type I, 310468 310468 CLCN5 Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 612286 SLC34A1 Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287 612287 SLC9A3R1 Nephronophthisis 1, juvenile, 256100 256100 NPHP1 Nephronophthisis 11, 613550 613550 TMEM67 Nephronophthisis 12, 613820 613820 TTC21B Nephronophthisis 13, 614377 614377 WDR19 Nephronophthisis 14, 614844 614844 ZNF423 Nephronophthisis 15, 614845 614845 CEP164 Nephronophthisis 16, 615382 615382 ANKS6 Nephronophthisis 18, 615862 615862 CEP83 Nephronophthisis 19, 616217 616217 DCDC2 Nephronophthisis 2, infantile, 602088 602088 INVS Nephronophthisis 3, 604387 604387 NPHP3 Nephronophthisis 4, 606966 606966 NPHP4 Nephronophthisis 7, 611498 611498 GLIS2 Nephronophthisis-like nephropathy 1, 613159 613159 XPNPEP3 Nephropathy due to CFHR5 deficiency, 614809 614809 CFHR5 Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 609057 CD151 Nephropathy, progressive, with deafness NEDE Nephropathy-hypertension RFH1 Nephrotic syndrome, type 1, 256300 256300 NPHS1 Nephrotic syndrome, type 10, 615861 615861 EMP2 Nephrotic syndrome, type 2, 600995 600995 PDCN Nephrotic syndrome, type 3, 610725 610725 PLCE1 Nephrotic syndrome, type 4, 256370 256370 WT1 Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 614199 LAMB2 Nephrotic syndrome, type 6, 614196 614196 PTPRO Nephrotic syndrome, type 7, 615008 615008 DGKE Nephrotic syndrome, type 8, 615244 615244 ARHGDIA Nephrotic syndrome, type 9, 615573 615573 ADCK4 Nestor-Guillermo progeria syndrome, 614008 614008 BANF1 Netherton syndrome, 256500 256500 SPINK5 Neu-Laxova syndrome 2, 616038 616038 PSAT1 Neu-Laxova syndrome1, 256520 256520 PHGDH Neural tube defects, 182940 182940 VANGL2 Neural tube defects, 182940 182940 VANGL1 Neural tube defects, 182940 182940 FUZ Neuroblastoma with Hirschsprung disease, 613013 613013 PMX2B Neuroblastoma, 256700 256700 NME1 Neurocutaneous melanosis, somatic, 249400 249400 NRAS Neurodegeneration due to cerebral folate transport deficiency, 613068 613068 FOLR1 Neurodegeneration with brain iron accululation 5, 300894 300894 WDR45 Neurodegeneration with brain iron accumulation 1, 234200 234200 PANK2 Neurodegeneration with brain iron accumulation 2B, 610217 610217 PLA2G6 Neurodegeneration with brain iron accumulation 3, 606159 606159 FTL Neurodegeneration with brain iron accumulation 4, 614298 614298 C19orf12 Neurodegeneration with brain iron accumulation 6, 615643 615643 COASY Neuroepithelioma, 612219 612219 EWSR1 Neurofibromatosis, familial spinal, 162210 162210 NF1 Neurofibromatosis, type 1, 162200 162200 NF1 Neurofibromatosis, type 2, 101000 101000 NF2 Neurofibromatosis-Noonan syndrome, 601321 601321 NF1 Neurofibrosarcoma MXI1 Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 117000 RYR1 Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 137200 HINT1 Neuronopathy, distal hereditary motor, type I DHMN1 Neuronopathy, distal hereditary motor, type IID, 615575 615575 FBXO38 Neuronopathy, distal hereditary motor, type VI, 604320 604320 IGHMBP2 Neuronopathy, distal hereditary motor, type VIIA, 158580 158580 SLC5A7 Neuropathy, congenital hypomyelinating, 1, 605253 605253 EGR2 Neuropathy, congenital hypomyelinating, 605253 605253 MPZ Neuropathy, distal hereditary motor, Jerash type HMNJ Neuropathy, distal hereditary motor, type IIA, 158590 158590 HSPB8 Neuropathy, distal hereditary motor, type IIB, 608634 608634 HSPB1 Neuropathy, distal hereditary motor, type VA, 600794 600794 GARS Neuropathy, distal hereditary motor, type VA, 600794 600794 BSCL2 Neuropathy, distal hereditary motor, type VIIB, 607641 607641 DCTN1 Neuropathy, hereditary motor and sensory, Russe type, 605285 605285 HK1 Neuropathy, hereditary sensory and autonomic, type IA, 162400 162400 SPTLC1 Neuropathy, hereditary sensory and autonomic, type IC, 613640 613640 SPTLC2 Neuropathy, hereditary sensory and autonomic, type II, 201300 201300 WNK1 Neuropathy, hereditary sensory and autonomic, type IIB, 613115 613115 FAM134B Neuropathy, hereditary sensory and autonomic, type V, 608654 608654 NGF Neuropathy, hereditary sensory and autonomic, type VII, 615548 615548 SCN11A Neuropathy, hereditary sensory, type IB HSN1B Neuropathy, hereditary sensory, type ID, 613708 613708 ATL1 Neuropathy, hereditary sensory, type IE, 614116 614116 DNMT1 Neuropathy, hereditary sensory, type IF, 615632 615632 ATL3 Neuropathy, hereditary sensory, type IIC, 614213 614213 KIF1A Neuropathy, hereditary sensory, with spastic paraplegia, 256840 256840 CCT5 Neuropathy, inflammatory demyelinating, 139393 139393 PMP22 Neuropathy, motor and sensory, Russe type NMSR Neuropathy, paraneoplastic sensory ELAVL4 Neuropathy, recurrent, with pressure palsies, 162500 162500 PMP22 Neutral lipid storage disease with myopathy, 610717 610717 PNPLA2 Neutropenia, alloimmune neonatal FCGR3B Neutropenia, cyclic, 162800 162800 ELANE Neutropenia, neonatal alloimmune LAG5 Neutropenia, nonimmune chronic idiopathic, of adults, 607847 607847 GFI1 Neutropenia, severe congenital 1, autosomal dominant, 202700 202700 ELANE Neutropenia, severe congenital 2, autosomal dominant, 613107 613107 GFI1 Neutropenia, severe congenital 3, autosomal recessive, 610738 610738 HAX1 Neutropenia, severe congenital 4, autosomal recessive, 612541 612541 G6PC3 Neutropenia, severe congenital, 5, autosomal recessive, 615285 615285 VPS45A Neutropenia, severe congenital, 6, autosomal recessive, 616022 616022 JAGN1 Neutropenia, severe congenital, X-linked, 300299 300299 WAS Neutrophil immunodeficiency syndrome, 608203 608203 RAC2 Nevus, epidermal, somatic, 162900 162900 FGFR3 Nevus, epidermal, somatic, 162900 162900 PIK3CA Newfoundland rod-cone dystrophy, 607476 607476 RLBP1 Nicolaides-Baraitser syndrome, 601358 601358 SMARCA2 Niemann-Pick disease, type A, 257200 257200 SMPD1 Niemann-Pick disease, type B, 607616 607616 SMPD1 Niemann-Pick disease, type C1, 257220 257220 NPC1 Niemann-pick disease, type C2, 607625 607625 NPC2 Niemann-Pick disease, type D, 257220 257220 NPC1 Night blindness, congenital stationary CACNA1F Night blindness, congenital stationary NYX Night blindness, congenital stationary TRPM1 Night blindness, congenital stationary SLC24A1 Night blindness, congenital stationary GRM6 Night blindness, congenital stationary CABP4 Night blindness, congenital stationary GPR179 Night blindness, congenital stationary LRIT3 Night blindness, congenital stationary, autosomal dominant 1, 610445 610445 RHO Night blindness, congenital stationary, autosomal dominant 2, 163500 163500 PDE6B Night blindness, congenital stationary, autosomal dominant 3, 610444 610444 GNAT1 Nijmegen breakage syndrome, 251260 251260 NBS1 Nijmegen breakage syndrome-like disorder, 613078 613078 RAD50 Nonaka myopathy, 605820 605820 GNE Non-Hodgkin lymphoma, somatic, 605027 605027 CASP10 Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 211980 EGFR Nonsmall cell lung cancer, somatic BRAF Nonsmall cell lung cancer, somatic, 211980 211980 IRF1 Nonsmall cell lung cancer, somatic, 211980 211980 PIK3CA Noonan syndrome 1, 163950 163950 PTPN11 Noonan syndrome 3, 609942 609942 KRAS Noonan syndrome 4, 610733 610733 SOS1 Noonan syndrome 5, 611553 611553 RAF1 Noonan syndrome 6, 613224 613224 NRAS Noonan syndrome 7, 613706 613706 BRAF Noonan syndrome 8, 615355 615355 RIT1 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 613563 CBL Noonan-like syndrome with loose anagen hair, 607721 607721 SHOC2 NOR polyagglutination syndrome, 111400 111400 A4GALT Norrie disease, 310600 310600 NDP Norum disease, 245900 245900 LCAT N-terminal acetyltransferase deficiency, 300855 300855 NAA10 Nystagmus 1, congenital, X-linked, 310700 310700 FRMD7 Nystagmus 2, congenital, autosomal dominant NYS2 Nystagmus 3, congenital, autosomal dominant NYS3 Nystagmus 4, congenital, autosomal dominant NYS4 Nystagmus 5, congenital, X-linked NYS5 Nystagmus 6, congenital, X-linked, 300814 300814 GPR143 Nystagmus 7, congenital, autosomal dominant NYS7 Nystagmus, infantile periodic alternating, X-linked, 310700 310700 FRMD7 Obesity with impaired prohormone processing, 600955 600955 PCSK1 Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 609734 POMC Obesity, autosomal dominant, 601665 601665 MC4R Obesity, hyperphagia, and developmental delay AKR1C2 Obesity, mild, early-onset, 601665 601665 NR0B2 Obesity, morbid, due to leptin deficiency, 614962 614962 LEP Obesity, morbid, due to leptin receptor deficiency, 614963 614963 LEPR Obesity, severe, 601665 601665 PPARG Obesity, severe, 601665 601665 SIM1 Occipital horn syndrome, 304150 304150 ATP7A Occult macular dystrophy, 613587 613587 RP1L1 Ocular albinism with sensorineural deafness OASD Ocular albinism, type I, Nettleship-Falls type, 300500 300500 GPR143 Oculoauricular syndrome, 612109 612109 HMX1 Oculodentodigital dysplasia, 164200 164200 GJA1 Oculodentodigital dysplasia, autosomal recessive, 257850 257850 GJA1 Oculomotor apraxia, congenital, Cogan-type COMA Oculopharyngeal muscular dystrophy, 164300 164300 PABPN1 Odontohypophosphatasia, 146300 146300 ALPL Odontoonychodermal dysplasia, 257980 257980 WNT10A Oguchi disease-1, 258100 258100 SAG Oguchi disease-2, 613411 613411 GRK1 Ohdo syndrome, X-linked, 300895 300895 MED12 OKT4 epitope deficiency, 613949 613949 CD4 Oligodontia-colorectal cancer syndrome, 608615 608615 AXIN2 Oliver-McFarlane syndrome, 275400 275400 PNPLA6 Olmsted syndrome, 614594 614594 TRPV3 Omenn syndrome, 603554 603554 RAG1 Omenn syndrome, 603554 603554 RAG2 Omenn syndrome, 603554 603554 DCLRE1C Omodysplasia 1, 258315 258315 GPC6 Omphalocele due to duplication of 1p31.3 OPHLC Oocyte maturation defect, 615774 615774 ZP1 Opitz GBBB syndrome, type I, 300000 300000 MID1 Opitz GBBB syndrome, type II, 145410 145410 SPECC1L Opitz-Kaveggia syndrome, 305450 305450 MED12 Opremazole poor metabolizer, 609535 609535 CYP2C Opsismodysplasia, 258480 258480 INPPL1 Optic atrophy 1, 165500 165500 OPA1 Optic atrophy 2, X-linked OPA2 Optic atrophy 3 with cataract, 165300 165300 OPA3 Optic atrophy 4 OPA4 Optic atrophy 5 OPA5 Optic atrophy 6 OPA6 Optic atrophy 7, 612989 612989 TMEM126A Optic atrophy plus syndrome, 125250 125250 OPA1 Optic disc anomalies with retinal and/or macular dystrophy, 212550 212550 SIX6 Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 206900 SOX2 Optic nerve hypoplasia, 165550 165550 PAX6 Ornithine transcarbamylase deficiency, 311250 311250 OTC Orofacial cleft 10, 613705 613705 SUMO1 Orofacial cleft 11, 600625 600625 BMP4 Orofacial cleft 12 OFC12 Orofacial cleft 13 OFC13 Orofacial cleft 14 OFC14 Orofacial cleft 4 OFC4 Orofacial cleft 5, 608874 608874 MSX1 Orofacial cleft 6, 608864 608864 IRF6 Orofacial cleft 7, 225060 225060 HVEC Orofacial cleft 8, 129400 129400 TP63 Orofacial cleft 9 OFC9 Orofacial cleft-1 OFC1 Orofacial cleft-2 OFC2 Orofacial cleft-3 OFC3 Orofaciodigital syndrome I, 311200 311200 OFD1 Orofaciodigital syndrome IV, 258860 258860 TCTN3 Orofaciodigital syndrome V, 174300 174300 DDX59 Orofaciodigital syndrome VI, 277170 277170 C5orf42 Orolaryngeal cancer, multiple, CDKN2A Orotic aciduria, 258900 258900 UMPS Orthostatic hypotensive disorder of Streeten OHDS Orthostatic intolerance, 604715 604715 SLC6A2 Osseous heteroplasia, progressive, 166350 166350 GNAS Osteoarthritis with mild chondrodysplasia, 604864 604864 COL2A1 Osteochondritis dissecans, short stature, and early-onset osteoarthritis, 165800 165800 ACAN Osteogenesis imperfecta, type I, 166200 166200 COL1A1 Osteogenesis imperfecta, type II, 166210 166210 COL1A1 Osteogenesis imperfecta, type II, 166210 166210 COL1A2 Osteogenesis imperfecta, type III, 259420 259420 COL1A1 Osteogenesis imperfecta, type III, 259420 259420 COL1A2 Osteogenesis imperfecta, type IV, 166220 166220 COL1A1 Osteogenesis imperfecta, type IV, 166220 166220 COL1A2 Osteogenesis imperfecta, type IX, 259440 259440 PPIB Osteogenesis imperfecta, type V, 610967 610967 IFITM5 Osteogenesis imperfecta, type VI, 613982 613982 SERPINF1 Osteogenesis imperfecta, type VII, 610682 610682 CRTAP Osteogenesis imperfecta, type VIII, 610915 610915 P3H1 Osteogenesis imperfecta, type X, 613848 613848 SERPINH1 Osteogenesis imperfecta, type XI, 610968 610968 FKBP10 Osteogenesis imperfecta, type XIII, 614856 614856 BMP1 Osteogenesis imperfecta, type XIV, 615066 615066 TMEM38B Osteogenesis imperfecta, type XV, 615220 615220 WNT1 Osteogenesis imperfecta, type XVI OI16 Osteoglophonic dysplasia, 166250 166250 FGFR1 Osteolysis, familial expansile, 174810 174810 TNFRSF11A Osteomalacia, tumor-induced FGF23 Osteopathia striata with cranial sclerosis, 300373 300373 AMER1 Osteopetrosis, autosomal dominant 1, 607634 607634 LRP5 Osteopetrosis, autosomal dominant 2, 166600 166600 CLCN7 Osteopetrosis, autosomal recessive 1, 259700 259700 TCIRG1 Osteopetrosis, autosomal recessive 2, 259710 259710 TNFSF11 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 259730 CA2 Osteopetrosis, autosomal recessive 4, 611490 611490 CLCN7 Osteopetrosis, autosomal recessive 5, 259720 259720 OSTM1 Osteopetrosis, autosomal recessive 6, 611497 611497 PLEKHM1 Osteopetrosis, autosomal recessive 7, 612301 612301 TNFRSF11A Osteopetrosis, autosomal recessive 8, 615085 615085 SNX10 Osteopoikilosis, 166700 166700 LEMD3 Osteoporosis-pseudoglioma syndrome, 259770 259770 LRP5 Osteosarcoma, 259500 259500 TP53 Osteosarcoma, somatic, 259500 259500 CHEK2 Osteosarcoma, somatic, 259500 259500 RB1 Osteosclerosis, 144750 144750 LRP5 Otodental dysplasia chromsome deletion syndrome OTDD Otopalatodigital syndrome, type I, 311300 311300 FLNA Otopalatodigital syndrome, type II, 304120 304120 FLNA Otosclerosis 1 OTSC1 Otosclerosis 10 OTSC10 Otosclerosis 2 OTSC2 Otosclerosis 3 OTSC3 Otosclerosis 5 OTSC5 Otosclerosis 7 OTSC7 Otosclerosis 8 OTSC8 Otospondylomegaepiphyseal dysplasia, 215150 215150 COL2A1 Otospondylomegaepiphyseal dysplasia, 215150 215150 COL11A2 Ovalocytosis SLC4A1 Ovarian cancer, somatic, ERBB2 Ovarian cancer, somatic, 167000 167000 CTNNB1 Ovarian cancer, somatic, 167000 167000 AKT1 Ovarian cancer, somatic, 167000 167000 PIK3CA Ovarian carcinoma RRAS2 Ovarian carcinoma SEPT9 Ovarian carcinoma, somatic, 167000 167000 CDH1 Ovarian dysgenesis 1, 233300 233300 FSHR Ovarian dysgenesis 2, 300510 300510 BMP15 Ovarian dysgenesis 3, 614324 614324 PSMC3IP Ovarian dysgenesis 4, 616185 616185 MCMDC1 Ovarian hyperstimulation syndrome, 608115 608115 FSHR Ovarian response to FSH stimulation, 276400 276400 FSHR Ovarioleukodystrophy, 603896 603896 EIF2B5 Ovarioleukodystrophy, 603896 603896 EIF2B2 Ovarioleukodystrophy, 603896 603896 EIF2B4 Pachyonychia congenita 1, 167200 167200 KRT16 Pachyonychia congenita 2, 167210 167210 KRT17 Pachyonychia congenita 3, 615726 615726 KRT6A Pachyonychia congenita 4, 615728 615728 KRT6B Paget disease of bone, 602080 602080 SQSTM1 Paget disease of bone, 602080 602080 TNFRSF11A Paget disease of bone, 602080 602080 PDB4 Paget disease, juvenile, 239000 239000 TNFRSF11B Pallister-Hall syndrome, 146510 146510 GLI3 Pallister-Killian syndrome PKS Palmoplantar hyperkeratosis and true hermaphroditism, 610644 610644 RSPO1 Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644 610644 RSPO1 Palmoplantar keratoderma and woolly hair, 616099 616099 KANK2 Palmoplantar keratoderma, Bothnian type, 600231 600231 AQP5 Palmoplantar keratoderma, epidermolytic, 144200 144200 KRT1 Palmoplantar keratoderma, epidermolytic, 144200 144200 KRT9 Palmoplantar keratoderma, Nagashima type, 615598 615598 SERPINB7 Palmoplantar keratoderma, nonepidermolytic, 600962 600962 KRT1 Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735 615735 KRT6C Palmoplantar keratoderma, nonepidermolytic, focal, 613000 613000 KRT16 Panbronchiolitis, diffuse PBLT Pancreatic agenesis 1, 260370 260370 IPF1 Pancreatic agenesis 2, 615935 615935 PTF1A Pancreatic agenesis and congenital heart defects, 600001 600001 GATA6 Pancreatic and cerebellar agenesis, 609069 609069 PTF1A Pancreatic cancer, 260350 260350 TP53 Pancreatic cancer, 260350 260350 STK11 Pancreatic cancer, 613347 613347 BRCA2 Pancreatic cancer, somatic ACVR1B Pancreatic cancer, somatic, 260350 260350 MADH4 Pancreatic cancer/melanoma syndrome, 606719 606719 CDKN2A Pancreatic carcinoma, somatic RBBP8 Pancreatic carcinoma, somatic, 260350 260350 KRAS Pancreatic lipase deficiency, 614338 614338 PNLIP Pancreatitis, hereditary, 167800 167800 SPINK1 Pancreatitis, hereditary, 167800 167800 PRSS1 Panhypopituitarism, X-linked, 312000 312000 SOX3 Panic disorder 2 PAND2 Panic disorder 3 PAND3 Panic disorder syndrome 1 PAND1 Papillon-Lefevre syndrome, 245000 245000 CTSC Papillorenal syndrome, 120330 120330 PAX2 Paraganglioma and gastric stromal sarcoma, 606864 606864 SDHB Paraganglioma and gastric stromal sarcoma, 606864 606864 SDHC Paraganglioma and gastric stromal sarcoma, 606864 606864 SDHD Paragangliomas 1, with or without deafness, 168000 168000 SDHD Paragangliomas 2, 601650 601650 SDHAF2 Paragangliomas 3, 605373 605373 SDHC Paragangliomas 4, 115310 115310 SDHB Paragangliomas 5, 614165 614165 SDHA Paramyotonia congenita, 168300 168300 SCN4A Parasomnia, sleepwalking type PSMNSW Parastremmatic dwarfism, 168400 168400 TRPV4 Parathyroid adenoma with cystic changes, 145001 145001 HRPT2 Parathyroid adenoma, somatic MEN1 Parathyroid carcinoma, 608266 608266 HRPT2 Parietal foramina 1, 168500 168500 MSX2 Parietal foramina 2, 609597 609597 ALX4 Parietal foramina with cleidocranial dysplasia, 168550 168550 MSX2 Parkes Weber syndrome, 608355 608355 RASA1 Parkinson disease 1, 168601 168601 SNCA Parkinson disease 14, autosomal recessive, 612953 612953 PLA2G6 Parkinson disease 15, autosomal recessive, 260300 260300 FBXO7 Parkinson disease 19, juvenile-onset, 615528 615528 DNAJC6 Parkinson disease 20, early-onset, 615530 615530 SYNJ1 Parkinson disease 21, 616361 616361 DNAJC13 Parkinson disease 4, 605543 605543 SNCA Parkinson disease 6, early onset, 605909 605909 PINK1 Parkinson disease 7, autosomal recessive early-onset, 606324 606324 DJ1 Parkinson disease, juvenile, type 2, 600116 600116 PRKN Parkinsonism-dystonia, infantile, 613135 613135 SLC6A3 Paroxysmal extreme pain disorder, 167400, SCN9A Paroxysmal nocturnal hemoglobinuria, somatic, 300818 300818 PIGA Paroxysmal nonkinesigenic dyskinesia 2 PNKD2 Paroxysmal nonkinesigenic dyskinesia, 118800 118800 MR1 Partington syndrome, 309510 309510 ARX Patella aplasia or hypoplasia PTLAH PCWH syndrome, 609136 609136 SOX10 Peeling skin syndrome 1, 270300 270300 CDSN Peeling skin syndrome 2, 609796 609796 TGM5 Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 616295 CAST Pelger-Huet anomaly, 169400 169400 LBR Pelizaeus-Merzbacher disease, 312080 312080 PLP1 Pelviureteric junction obstruction PUJO Pendred syndrome, 274600 274600 SLC26A4 PEPCK deficiency, mitochondrial, 261650 261650 PCK2 Periodic fever, familial, 142680 142680 TNFRSF1A Periodic fever, menstrual cycle dependent, 614674 614674 HTR1A Periodontitis 1, juvenile, 170650 170650 CTSC Periodontitis, aggressive, 2 2 PDON2 Peripheral arterial occlusive disease 1 PAOD1 Periventricular heterotopia with microcephaly, 608097 608097 ARFGEF2 Periventricular nodular heterotopia 3 PVNH3 Periventricular nodular heterotopia 5 PVNH5 Perlman syndrome, 267000 267000 DIS3L2 Peroxisomal acyl-CoA oxidase deficiency, 264470 264470 ACOX1 Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154 616154 FAR1 Peroxisome biogenesis disorder 10A PEX3 Peroxisome biogenesis disorder 11A PEX13 Peroxisome biogenesis disorder 11B, 614885 614885 PEX13 Peroxisome biogenesis disorder 12A PEX19 Peroxisome biogenesis disorder 13A PEX14 Peroxisome biogenesis disorder 14B, 614920 614920 PEX11B Peroxisome biogenesis disorder 1A PEX1 Peroxisome biogenesis disorder 1B PEX1 Peroxisome biogenesis disorder 2A PEX5 Peroxisome biogenesis disorder 2B, 202370 202370 PEX5 Peroxisome biogenesis disorder 3A PEX12 Peroxisome biogenesis disorder 3B, 266510 266510 PEX12 Peroxisome biogenesis disorder 4A PEX6 Peroxisome biogenesis disorder 4B, 614863 614863 PEX6 Peroxisome biogenesis disorder 5A PEX2 Peroxisome biogenesis disorder 5B, 614867 614867 PEX2 Peroxisome biogenesis disorder 6A PEX10 Peroxisome biogenesis disorder 6B, 614871 614871 PEX10 Peroxisome biogenesis disorder 7A PEX26 Peroxisome biogenesis disorder 7B, 614873 614873 PEX26 Peroxisome biogenesis disorder 8A, PEX16 Peroxisome biogenesis disorder 8B, 614877 614877 PEX16 Peroxisome biogenesis disorder 9B, 614879 614879 PEX7 Perrault syndrome 1, 233400 233400 HSD17B4 Perrault syndrome 2, 614926 614926 HARS2 Perrault syndrome 3, 614129 614129 CLPP Perrault syndrome 4, 615300 615300 LARS2 Perrault syndrome 5, 616138 616138 C10orf2 Perry syndrome, 168605 168605 DCTN1 Persistent hyperplastic primary vitreous, autosomal recessive, 221900 221900 ATOH7 Persistent Mullerian duct syndrome, type I, 261550 261550 AMH Persistent Mullerian duct syndrome, type II, 261550 261550 AMHR2 Persistent polyclonal B-cell lymphocytosis, 606445 606445 CARD11 Persistent truncus arteriosus, 217095 217095 GATA6 Persistent truncus arteriosus, 217095 217095 NKX2-6 Peters anomaly, 604229 604229 PITX2 Peters anomaly, 604229 604229 CYP1B1 Peters anomaly, 604229 604229 PAX6 Peters-plus syndrome, 261540 261540 B3GALTL Peutz-Jeghers syndrome, 175200 175200 STK11 Pfeiffer syndrome, 101600 101600 FGFR1 Pfeiffer syndrome, 101600 101600 FGFR2 Phelan-McDermid syndrome, 606232 606232 SHANK3 Phenylketonuria, 261600 261600 PAH Pheochromocytoma, 171300 171300 RET Pheochromocytoma, 171300 171300 SDHB Pheochromocytoma, 171300 171300 SDHD Pheochromocytoma, 171300 171300 KIF1B Pheochromocytoma, 171300 171300 VHL Phobia, specific PHOBS Phosphoglycerate dehydrogenase deficiency, 601815 601815 PHGDH Phosphoglycerate kinase 1 deficiency, 300653 300653 PGK1 Phospholipase A2, group IV A, deficiency of PLA2G4A Phosphoribosylpyrophosphate synthetase superactivity, 300661 300661 PRPS1 Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 261750 PHKB Phosphoserine phosphatase deficiency, 614023 614023 PSPH Photoparoxysmal response 1 PPR1 Photoparoxysmal response 2 PPR2 Photoparoxysmal response 3 PPR3 Pick disease, 172700 172700 PSEN1 Pick disease, 172700 172700 MAPT Piebaldism, 172800 172800 KIT Piebaldism, 172800 172800 SNAI2 Pierre Robin syndrome PRBNS Pierson syndrome, 609049 609049 LAMB2 Pigment disorder, reticulate PDR Pigment dispersion syndrome GPDS1 Pigmented nodular adrenocortical disease, primary, 1, 610489 610489 PRKAR1A Pigmented nodular adrenocortical disease, primary, 2, 610475 610475 PDE11A Pigmented nodular adrenocortical disease, primary, 3, 614190 614190 PDE8B Pigmented nodular adrenocortical disease, primary, 4 4 PPNAD4 Pigmented paravenous chorioretinal atrophy, 172870 172870 CRB1 Pilomatricoma, somatic, 132600 132600 CTNNB1 Pitt-Hopkins like syndrome 1, 610042 610042 CNTNAP2 Pitt-Hopkins syndrome, 610954 610954 TCF4 Pitt-Hopkins-like syndrome 2, 614325 614325 NRXN1 Pituitary ACTH-secreting adenoma GNAI2 Pituitary adenoma, ACTH-secreting, 219090 219090 AIP Pituitary adenoma, growth hormone-secreting 2, 300943 300943 GPR101 Pituitary adenoma, growth hormone-secreting, 102200 102200 AIP Pituitary adenoma, prolactin-secreting, 600634 600634 AIP Pituitary hormone deficiency, combined, 1, 613038 613038 POU1F1 Pituitary hormone deficiency, combined, 2, 262600 262600 PROP1 Pituitary hormone deficiency, combined, 3, 221750 221750 LHX3 Pituitary hormone deficiency, combined, 4, 262700 262700 LHX4 Pituitary hormone deficiency, combined, 5, 182230 182230 HESX1 Pituitary hormone deficiency, combined, 6, 613986 613986 OTX2 Pituitary tumor, invasive PRKCA Pityriasis rubra pilaris, 173200 173200 CARD14 Plasma fibronectin deficiency, 614101 614101 FN1 Plasma triglyceride level QTL, low, 615881 615881 ANGPTL4 Plasminogen activator inhibitor-1 deficiency, 613329 613329 PAI1 Plasminogen deficiency, type I, 217090 217090 PLG Platelet disorder, familial, with associated myeloid malignancy, 601399 601399 RUNX1 Platelet glycoprotein IV deficiency, 608404 608404 CD36 Platelet PLC beta-2 deficiency PLCB2 Platelet-activating factor acetylhydrolase deficiency, 614278 614278 PLA2G7 Platyspondylic skeletal dysplasia, Torrance type, 151210 151210 COL2A1 Pleuropulmonary blastoma, 601200 601200 DICER1 Pneumothorax, primary spontaneous, 173600 173600 FLCN Poikiloderma with neutropenia, 604173 604173 C16orf57 Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 615704 FAM111B Polyarteritis nodosa, childhood-onset, 615688 615688 CECR1 Polycystic kidney and hepatic disease, 263200 263200 FCYT Polycystic kidney disease 2, 613095 613095 PKD2 Polycystic kidney disease, adult type I, 173900 173900 PKD1 Polycystic kidney disease, infantile severe, with tuberous sclerosis PKDTS Polycystic liver disease, 174050 174050 PRKCSH Polycystic liver disease, 174050 174050 SEC63 Polycystic ovary syndrome 1 PCOS1 Polycythemia vera, 263300 263300 JAK2 Polydactyly, postaxial, type A3 PAPA3 Polydactyly, postaxial, type A4 PAPA4 Polydactyly, postaxial, type A5 PAPA5 Polydactyly, postaxial, types A1 and B, 174200 174200 GLI3 Polydactyly, preaxial type II, 174500 174500 LMBR1 Polydactyly, preaxial, type IV, 174700 174700 GLI3 Polyglucosan body disease, adult form, 263570 263570 GBE1 Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 615895 RBCK1 Polyglucosan body myopathy 2, 616199 616199 GYG1 Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 611087 STRADA Polymicrogyria with optic nerve hypoplasia, 613180 613180 TUBA8 Polymicrogyria with seizures, 614833 614833 RTTN Polymicrogyria, bilateral frontoparietal, 606854 606854 GPR56 Polymicrogyria, bilateral occipital BOP Polymicrogyria, bilateral perisylvian BPP Polymicrogyria, bilateral perisylvian, 615752 615752 GPR56 Polymicrogyria, symmetric or asymmetric, 610031 610031 TUBB2B Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 612674 ABHD12 Polyposis syndrome, hereditary mixed, 2, 610069 610069 BMPR1A Polyposis syndrome, mixed hereditary 1 HMPS1 Polyposis, juvenile intestinal, 174900 174900 MADH4 Polyposis, juvenile intestinal, 174900 174900 BMPR1A Pontocerebellar hypoplasia type 1A, 607596 607596 VRK1 Pontocerebellar hypoplasia type 2A, 277470 277470 TSEN54 Pontocerebellar hypoplasia type 2B, 612389 612389 TSEN2 Pontocerebellar hypoplasia type 2C, 612390 612390 TSEN34 Pontocerebellar hypoplasia type 2D, 613811 613811 SEPSECS Pontocerebellar hypoplasia type 4, 225753 225753 TSEN54 Pontocerebellar hypoplasia, type 10, 615803 615803 CLP1 Pontocerebellar hypoplasia, type 1B, 614678 614678 EXOSC3 Pontocerebellar hypoplasia, type 1C, 616081 616081 EXOSC8 Pontocerebellar hypoplasia, type 2E, 615851 615851 VPS53 Pontocerebellar hypoplasia, type 3 PCH3 Pontocerebellar hypoplasia, type 6, 611523 611523 RARS2 Pontocerebellar hypoplasia, type 8, 614961 614961 CHMP1A Pontocerebellar hypoplasia, type 9, 615809 615809 AMPD2 Popliteal pterygium syndrome 1, 119500 119500 IRF6 Popliteal pterygium syndrome 2, lethal type, 263650 263650 RIPK4 Porencephaly 1, 175780 175780 COL4A1 Porencephaly 2, 614483 614483 COL4A2 Poretti-Boltshauser syndrome, 615960 615960 LAMA1 Porokeratosis 2, palmar, plantar, and disseminated POROK2 Porokeratosis 3, disseminated superficial actinic, 175900 175900 MVK Porokeratosis 4, disseminated superficial actinic POROK4 Porokeratosis 5, disseminated superficial actinic POROK5 Porokeratosis 6 POROK6 Porokeratosis 7 POROK7 Porokeratosis 8, disseminated superficial actinic type, 616063 616063 SLC17A9 Porphyria cutanea tarda, 176100 176100 UROD Porphyria variegata, 176200 176200 PPOX Porphyria, acute hepatic, 612740 612740 ALAD Porphyria, acute intermittent, 176000 176000 HMBS Porphyria, acute intermittent, nonerythroid variant, 176000 176000 HMBS Porphyria, congenital erythropoietic, 263700 263700 UROS Porphyria, hepatoerythropoietic, 176100 176100 UROD Postaxial polydactyly, type A2 PAPA2 Potocki-Lupski syndrome PTLS Potocki-Shaffer syndrome PSS Prader-Willi syndrome, 176270 176270 SNRPN Prader-Willi syndrome, 176270 176270 NDN Preauricular tag, isolated, autosomal dominant, 1 1 PAURT1 Precocious puberty, central, 2, 615346 615346 MKRN3 Precocious puberty, male, 176410 176410 LHCGR Preeclampsia/eclampsia 1 PEE1 Preeclampsia/eclampsia 2 PEE2 Preeclampsia/eclampsia 3 PEE3 Preeclampsia/eclampsia 4, 609404 609404 STOX1 Preeclampsia/eclampsia 5, 614595 614595 CORIN Premature ovarian failure 1, 311360 311360 FMR1 Premature ovarian failure 2B, 300604 300604 FLJ22792 Premature ovarian failure 3, 608996 608996 FOXL2 Premature ovarian failure 4, 300510 300510 BMP15 Premature ovarian failure 5, 611548 611548 NOBOX Premature ovarian failure 6, 612310 612310 FIGLA Premature ovarian failure 7, 612964 612964 NR5A1 Premature ovarian failure 9, 615724 615724 HFM1 Premature ovarian failure, 300511 300511 DIAPH2 Prieto syndrome PRS Primary aldosteronism, seizures, and neurologic abnormalities, 615474 615474 CACNA1D Primary lateral sclerosis, adult, 1 1 PLSA1 Primary lateral sclerosis, juvenile, 606353 606353 ALS2 Primrose syndrome, 259050 259050 ZBTB20 Prion disease with protracted course, 606688 606688 PRNP Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283 609283 SLC25A4 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 610131 POLG2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5, 613077 613077 RRM2B Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6, 615156 615156 DNA2 Progressive external ophthalmoplegia, autosomal dominant, 157640 157640 POLG Progressive external ophthalmoplegia, autosomal dominant, 3, 609286 609286 C10orf2 Progressive external ophthalmoplegia, autosomal recessive, 258450 258450 POLG Progressive familial heart block, type IB, 604559 604559 TRPM4 Progressive familial heart block, type II PFHB2 Proguanil poor metabolizer, 609535 609535 CYP2C Prolidase deficiency, 170100 170100 PEPD Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790 225790 FLVCR2 Properdin deficiency, X-linked, 312060 312060 PFC Propionicacidemia, 606054 606054 PCCA Propionicacidemia, 606054 606054 PCCB Prostate adenocarcinoma ST12 Prostate cancer 1, 601518 601518 RNASEL Prostate cancer, 176807 176807 BRCA2 Prostate cancer, hereditary, 176807 176807 MSR1 Prostate cancer, somatic, 176807 176807 KLF6 Prostate cancer, somatic, 176807 176807 MAD1L1 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 308990 CLCN5 Proteus syndrome, somatic, 176920 176920 AKT1 Protoporphyria, erythropoietic, autosomal recessive, 177000 177000 FECH Protoporphyria, erythropoietic, X-linked, 300752 300752 ALAS2 Proud syndrome, 300004 300004 ARX Proximal myopathy and ophthalmoplegia, 605637 605637 MYH2 Pseudoachondroplasia, 177170 177170 COMP Pseudohermaphroditism, male, with gynecomastia, 264300 264300 HSD17B3 Pseudohyperkalemia, familial, 2, due to red cell leak PSHK2 Pseudohypoaldosteronism type I, autosomal dominant, 177735 177735 NR3C2 Pseudohypoaldosteronism, type I, 264350 264350 SCNN1A Pseudohypoaldosteronism, type I, 264350 264350 SCNN1B Pseudohypoaldosteronism, type I, 264350 264350 SCNN1G Pseudohypoaldosteronism, type IIA PHA2A Pseudohypoaldosteronism, type IIB, 614491 614491 WNK4 Pseudohypoaldosteronism, type IIC, 614492 614492 WNK1 Pseudohypoaldosteronism, type IID, 614495 614495 KLHL3 Pseudohypoaldosteronism, type IIE, 614496 614496 CUL3 Pseudohypoparathyroidism Ia, 103580 103580 GNAS Pseudohypoparathyroidism Ib, 603233 603233 GNAS Pseudohypoparathyroidism Ic, 612462 612462 GNAS Pseudohypoparathyroidism, type IB, 603233 603233 STX16 Pseudohypoparathyroidism, type IB, 603233 603233 GNASAS1 Pseudopseudohypoparathyroidism, 612463 612463 GNAS Pseudovaginal perineoscrotal hypospadias, 264600 264600 SRD5A2 Pseudoxanthoma elasticum, 264800 264800 ABCC6 Pseudoxanthoma elasticum, forme fruste, 177850 177850 ABCC6 Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 610842 GGCX Psoriasis 14, pustular, 614204 614204 IL36RN Psoriasis 2, 602723 602723 CARD14 Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 614501 SNIP1 PTEN hamartoma tumor syndrome PTEN Ptosis, hereditary congenital 2 PTOS2 Ptosis, hereditary congenital, 1 1 PTOS1 Pulmonary alveolar microlithiasis, 265100 265100 SLC34A2 Pulmonary disease, chronic obstructive, severe early-onset COPD Pulmonary fibrosis, idiopathic, 178500 178500 SFTPA2 Pulmonary hypertension, familial primary, 1, with or without HHT, 178600 178600 BMPR2 Pulmonary hypertension, primary, 2, 615342 615342 MADH9 Pulmonary hypertension, primary, 3, 615343 615343 CAV1 Pulmonary hypertension, primary, 4, 615344 615344 KCNK3 Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600 178600 BMPR2 Pulmonary venoocclusive disease 1, 265450 265450 BMPR2 Pulmonary venoocclusive disease 2, 234810 234810 EIF2AK4 Purpura, posttransfusion ITGB3 Pycnodysostosis, 265800 265800 CTSK Pyloric stenosis, infantile hypertrophic 1 IHPS1 Pyloric stenosis, infantile hypertrophic, 2 2 IHPS2 Pyloric stenosis, infantile hypertrophic, 3 3 IHPS3 Pyloric stenosis, infantile hypertrophic, 4 4 IHPS4 Pyloric stenosis, infantile hypertrophic, 5 5 IHPS5 Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 612260 MYD88 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 604416 PSTPIP1 Pyridoxamine 5'-phosphate oxidase deficiency, 610090 610090 PNPO Pyropoikilocytosis, 266140 266140 SPTA1 Pyruvate carboxylase deficiency, 266150 266150 PC Pyruvate dehydrogenase E1-alpha deficiency, 312170 312170 PDHA1 Pyruvate dehydrogenase E1-beta deficiency, 614111 614111 PDHB Pyruvate dehydrogenase E2 deficiency, 245348 245348 DLAT Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 614462 LIAS Pyruvate dehydrogenase phosphatase deficiency, 608782 608782 PDP1 Pyruvate kinase deficiency, 266200 266200 PKLR Quebec platelet disorder, 601709 601709 PLAU Question mark ears, isolated, 612798 612798 EDN1 Rabson-Mendenhall syndrome, 262190 262190 INSR Radial ray deficiency RRDX Radiation sensitivity/chromosome instability syndrome, autosomal dominant RSCIS Radioulnar synostosis with amegakaryocytic thrombocytopenia, 605432 605432 HOXA11 Raine syndrome, 259775 259775 FAM20C Rajab syndrome RJBS RAPADILINO syndrome, 266280 266280 RECQL4 Rapp-Hodgkin syndrome, 129400 129400 TP63 Recombination rate QTL 1, 612042 612042 RNF212 Refsum disease, 266500 266500 PHYH Renal agenesis, 191830 191830 RET Renal carcinoma, chromophobe, somatic, 144700 144700 FLCN Renal cell carcinoma, 144700 144700 HNF1A Renal cell carcinoma, 144700 144700 DIRC2 Renal cell carcinoma, 144700 144700 RNF139 Renal cell carcinoma, clear cell, somatic, 144700 144700 OGG1 Renal cell carcinoma, papillary, 1, 300854 300854 TFE3 Renal cell carcinoma, papillary, 1, familial and somatic, 605074 605074 MET Renal cell carcinoma, papillary, 605074 605074 PRCC Renal cell carcinoma, somatic, 144700 144700 VHL Renal cysts and diabetes syndrome, 137920 137920 HNF1B Renal glucosuria, 233100 233100 SLC5A2 Renal hypodysplasia, nonsyndromic, 1 1 RHDNS1 Renal hypodysplasia/aplasia 1, 191830 191830 ITGA8 Renal hypoplasia, isolated, 191830 191830 PAX2 Renal tubular acidosis with deafness, 267300 267300 ATP6B1 Renal tubular acidosis, distal, AD, 179800 179800 SLC4A1 Renal tubular acidosis, distal, AR, 611590 611590 SLC4A1 Renal tubular acidosis, distal, autosomal recessive, 602722 602722 ATP6V0A4 Renal tubular acidosis, proximal, with ocular abnormalities, 604278 604278 SLC4A4 Renal tubular dysgenesis, 267430 267430 AGT Renal tubular dysgenesis, 267430 267430 AGTR1 Renal tubular dysgenesis, 267430 267430 ACE Renal tubular dysgenesis, 267430 267430 REN Renal-hepatic-pancreatic dysplasia 1, 208540 208540 NPHP3 Renpenning syndrome, 309500 309500 PQBP1 Restrictive dermopathy, lethal, 275210 275210 LMNA Restrictive dermopathy, lethal, 275210 275210 ZMPSTE24 Reticular dysgenesis, 267500 267500 AK2 Reticulate acropigmentation of Kitamura, 615537 615537 ADAM10 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 614224 IGFBP7 Retinal cone dystrophy 3, 610024 610024 PDE6H Retinal cone dystrophy 3B, 610356 610356 KCNV2 Retinal cone dystrophy 4, 610478 610478 CACNA2D4 Retinal degeneration, autosomal recessive, clumped pigment type NRL Retinal degeneration, late-onset, autosomal dominant, 605670 605670 C1QTNF5 Retinal dystrophy, early-onset severe, 248200 248200 ABCA4 Retinal dystrophy, early-onset severe, 613341 613341 LRAT Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 610125 OTX2 Retinal nonattachment, nonsyndromic congenital RNANC Retinitis pigmentosa 1, 180100 180100 RP1 Retinitis pigmentosa 10, 180105 180105 IMPDH1 Retinitis pigmentosa 11, 600138 600138 PRPF31 Retinitis pigmentosa 13, 600059 600059 PRPF8 Retinitis pigmentosa 14, 600132 600132 TULP1 Retinitis pigmentosa 17, 600852 600852 CA4 Retinitis pigmentosa 18, 601414 601414 PRPF3 Retinitis pigmentosa 19, 601718 601718 ABCA4 Retinitis pigmentosa 2, 312600 312600 RP2 Retinitis pigmentosa 20, 613794 613794 RPE65 Retinitis pigmentosa 22 RP22 Retinitis pigmentosa 24 RP24 Retinitis pigmentosa 25, 602772 602772 EYS Retinitis pigmentosa 26, 608380 608380 CERKL Retinitis pigmentosa 27, 613750 613750 NRL Retinitis pigmentosa 28, 606068 606068 FAM161A Retinitis pigmentosa 29 RP29 Retinitis pigmentosa 3, 300029 300029 RPGR Retinitis pigmentosa 30, 607921 607921 FSCN2 Retinitis pigmentosa 31, 609923 609923 TOPORS Retinitis pigmentosa 32 RP32 Retinitis pigmentosa 33, 610359 610359 SNRNP200 Retinitis pigmentosa 34 RP34 Retinitis pigmentosa 35, 610282 610282 SEMA4A Retinitis pigmentosa 36, 610599 610599 PRCD Retinitis pigmentosa 37, 611131 611131 NR2E3 Retinitis pigmentosa 38, 613862 613862 MERTK Retinitis pigmentosa 39, 613809 613809 USH2A Retinitis pigmentosa 4, autosomal dominant or recessive, 613731 613731 RHO Retinitis pigmentosa 41, 612095 612095 PROM1 Retinitis pigmentosa 42, 612943 612943 KLHL7 Retinitis pigmentosa 43, 613810 613810 PDE6A Retinitis pigmentosa 44, 613769 613769 RGR Retinitis pigmentosa 45, 613767 613767 CNGB1 Retinitis pigmentosa 46, 612572 612572 IDH3B Retinitis pigmentosa 47, 613758 613758 SAG Retinitis pigmentosa 48, 613827 613827 GUCA1B Retinitis pigmentosa 49, 613756 613756 CNGA1 Retinitis pigmentosa 54, 613428 613428 C2orf71 Retinitis pigmentosa 56, 613581 613581 IMPG2 Retinitis pigmentosa 57, 613582 613582 PDE6G Retinitis pigmentosa 58, 613617 613617 ZNF513 Retinitis pigmentosa 59, 613861 613861 DHDDS Retinitis pigmentosa 60, 613983 613983 PRPF6 Retinitis pigmentosa 61, 614180 614180 CLRN1 Retinitis pigmentosa 62, 614181 614181 MAK Retinitis pigmentosa 63 RP63 Retinitis pigmentosa 64, 614500 614500 C8orf37 Retinitis pigmentosa 65, 613660 613660 CDHR1 Retinitis pigmentosa 68, 615725 615725 SLC7A14 Retinitis pigmentosa 69, 615780 615780 KIZ Retinitis pigmentosa 7 and digenic, 608133 608133 PRPH2 Retinitis pigmentosa 7, digenic, 608133 608133 ROM1 Retinitis pigmentosa 70, 615922 615922 PRPF4 Retinitis pigmentosa with or without situs inversus, 615434 615434 ARL2BP Retinitis pigmentosa, concentric, 613194 613194 BEST1 Retinitis pigmentosa, juvenile, 604393 604393 AIPL1 Retinitis pigmentosa, juvenile, 613341 613341 LRAT Retinitis pigmentosa, juvenile, autosomal recessive, 604232 604232 SPATA7 Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 300455 RPGR Retinitis pigmentosa, Y-linked RPY Retinitis pigmentosa-12, autosomal recessive, 600105 600105 CRB1 Retinitis pigmentosa-40, 613801 613801 PDE6B Retinitis pigmentosa-50, 613194 613194 BEST1 Retinitis punctata albescens, 136880 136880 PRPH2 Retinitis punctata albescens, 136880 136880 RLBP1 Retinitis punctata albescens, 136880 136880 RHO Retinoblastoma, 180200 180200 RB1 Retinoblastoma, trilateral, 180200 180200 RB1 Retinol dystrophy, iris coloboma, and comedogenic acne syndrome, 615147 615147 RBP4 Retinopathy of prematurity, 133780 133780 FZD4 Retinoschisis, 312700 312700 RS1 Rett syndrome, 312750 312750 MECP2 Rett syndrome, congenital variant, 613454 613454 FOXG1 Rett syndrome, preserved speech variant, 312750 312750 MECP2 Revesz syndrome, 268130 268130 TINF2 Rhabdoid tumors, somatic, 609322 609322 SMARCB1 Rhabdomyolysis, cerivastatin-induced CYP2C8 Rhabdomyosarcoma 2, alveolar, 268220 268220 PAX7 Rhabdomyosarcoma 2, alveolar, 268220 268220 PAX3 Rhabdomyosarcoma, alveolar, 268220 268220 FOXO1A Rhabdomyosarcoma, embryonal, 2, 180295 180295 DICER1 Rhabdomyosarcoma, somatic, 268210 268210 SLC22A1L Rhizomelic chondrodysplasia punctata, type 1, 215100 215100 PEX7 Rhizomelic chondrodysplasia punctata, type 3, 600121 600121 AGPS Rh-mod syndrome RHAG Rh-null disease, amorph type RHCE Riboflavin deficiency, 615026 615026 SLC52A1 Rickets due to defect in vitamin D 25-hydroxylation, 600081 600081 CYP2R1 Rickets, vitamin D-resistant, type IIA, 277440 277440 VDR RIDDLE syndrome, 611943 611943 RNF168 Rieger or Axenfeld anomalies, 602482 602482 FOXC1 Rieger syndrome, type 2 RIEG2 Right atrial isomerism, 208530 208530 GDF1 Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 614498 BRAT1 Ring dermoid of cornea, 180550 180550 PITX2 Rippling muscle disease, 606072 606072 CAV3 Rippling muscle disease-1 RMD1 Ritscher-Schinzel syndrome, 220210 220210 KIAA0196 Roberts syndrome, 268300 268300 ESCO2 Robin sequence with cleft mandible and limb anomalies, 268305 268305 DDX48 Robinow syndrome, autosomal dominant 1, 180700 180700 WNT5A Robinow syndrome, autosomal dominant 2, 616331 616331 DVL1 Robinow syndrome, autosomal recessive, 268310 268310 ROR2 Robinow-Sorauf syndrome, 180750 180750 TWIST1 Roifman syndrome RFMN Rothmund-Thomson syndrome, 268400 268400 RECQL4 Roussy-Levy syndrome, 180800 180800 MPZ Roussy-Levy syndrome, 180800 180800 PMP22 Rubinstein-Taybi syndrome 2, 613684 613684 EP300 Rubinstein-Taybi syndrome, 180849 180849 CREBBP Ruijs-Aalfs syndrome, 616200 616200 SPRTN Saccharopinuria, 268700 268700 AASS Sacral agenesis with vertebral anomalies, 615709 615709 T Saethre-Chotzen syndrome with eyelid anomalies, 101400 101400 TWIST1 Saethre-Chotzen syndrome, 101400 101400 FGFR2 Saethre-Chotzen syndrome, 101400 101400 TWIST1 Salla disease, 604369 604369 SLC17A5 Sandhoff disease, infantile, juvenile, and adult forms, 268800 268800 HEXB Sarcoidosis, early-onset, 609464 609464 NOD2 Sarcoma, synovial SS18 SARS infection, protection against CLEC4M SBBYSS syndrome, 603736 603736 KAT6B SC phocomelia syndrome, 269000 269000 ESCO2 Scalp-ear-nipple syndrome, 181270 181270 KCTD1 Scaphocephaly and Axenfeld-Rieger anomaly FGFR2 Scaphocephaly, maxillary retrusion, and mental retardation, 609579 609579 FGFR2 Scapuloperoneal myopathy, X-linked dominant, 300695 300695 FHL1 Scapuloperoneal spinal muscular atrophy, 181405 181405 TRPV4 Scapuloperoneal syndrome, myopathic type, 181430 181430 MYH7 Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 181400 DES Schaaf-Yang syndrome, 615547 615547 MAGEL2 Schimke immunoosseous dysplasia, 242900 242900 SMARCAL1 Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 163200 NRAS Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 163200 HRAS Schindler disease, type I, 609241 609241 NAGA Schindler disease, type III, 609241 609241 NAGA Schinzel-Giedion midface retraction syndrome, 269150 269150 SETBP1 Schizencephaly, 269160 269160 EMX2 Schizencephaly, 269160 269160 SHH Schizencephaly, 269160 269160 SIX3 Schizophrenia 16 SCZD16 Schizophrenia, 181500 181500 DISC2 Schizophrenia, neurophysiologic defect in CHRNA7 Schneckenbecken dysplasia, 269250 269250 SLC35D1 Schopf-Schulz-Passarge syndrome, 224750 224750 WNT10A Schwannomatosis, 162091 162091 NF2 Schwartz-Jampel syndrome, type 1, 255800 255800 HSPG2 SCID, autosomal recessive, T-negative/B-positive type, 600802 600802 JAK3 Sclerosteosis 1, 269500 269500 SOST Sclerosteosis 2, 614305 614305 LRP4 Scoliosis, idiopathic 1 IS1 Scoliosis, idiopathic 2 IS2 Scott syndrome, 262890 262890 ANO6 Scurvy GULOP Sea-blue histiocyte disease, 269600 269600 APOE Sebaceous tumors, somatic LEF1 Sebastian syndrome, 605249 605249 MYH9 Seborrhea-like dermatitis with psoriasiform elements, 610227 610227 ZNF750 Seckel syndrome 1, 210600 210600 ATR Seckel syndrome 2, 606744 606744 RBBP8 Seckel syndrome 4, 613676 613676 CENPJ Seckel syndrome 5, 613823 613823 CEP152 Seckel syndrome 7, 614851 614851 NIN SED congenita, 183900 183900 COL2A1 SED, Maroteaux type, 184095 184095 TRPV4 SED, Namaqualand type COL2A1 Segawa syndrome, recessive, 605407 605407 TH Seizures, benign familial infantile, 1 1 BFIS1 Seizures, benign familial infantile, 2, 605751 605751 PRRT2 Seizures, benign familial infantile, 3, 607745 607745 SCN2A Seizures, benign familial infantile, 4 4 BFIS4 Seizures, benign neonatal, 1, 121200 121200 KCNQ2 Seizures, benign neonatal, type 2, 121201 121201 KCNQ3 Selective T-cell defect, 269840 269840 ZAP70 Sengers syndrome, 212350 212350 AGK Senior-Loken syndrome 3 SLSN3 Senior-Loken syndrome 4, 606996 606996 NPHP4 Senior-Loken syndrome 5, 609254 609254 IQCB1 Senior-Loken syndrome 6, 610189 610189 CEP290 Senior-Loken syndrome 7, 613615 613615 SDCCAG8 Senior-Loken syndrome 8, 616307 616307 WDR19 Senior-Loken syndrome-1, 266900 266900 NPHP1 Sensorineural deafness with mild renal dysfunction, 602522 602522 BSND Septooptic dysplasia, 182230 182230 HESX1 SERKAL syndrome, 611812 611812 WNT4 SESAME syndrome, 612780 612780 KCNJ10 Severe combined immunodeficiency due to ADA deficiency, 102700 102700 ADA Severe combined immunodeficiency due to IL2 deficiency IL2 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 611291 NHEJ1 Severe combined immunodeficiency, Athabascan type, 602450 602450 DCLRE1C Severe combined immunodeficiency, B cell-negative, 601457 601457 RAG1 Severe combined immunodeficiency, B cell-negative, 601457 601457 RAG2 Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 608971 PTPRC Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 608971 IL7R Severe combined immunodeficiency, X-linked, 300400 300400 IL2RG SFM syndrome, somatic mosaic, 163200 163200 KRAS Shaheen syndrome, 615328 615328 COG6 Short QT syndrome 1, 609620 609620 KCNH2 Short QT syndrome 2, 609621 609621 KCNQ1 Short QT syndrome 3, 609622 609622 KCNJ2 Short stature with microcephaly and distinctive facies, 615789 615789 CRIPT Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, 602471 602471 GSC Short stature, idiopathic familial, 300582 300582 SHOX Short stature, idiopathic familial, 300582 300582 SHOXY Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 614813 POC1A Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 614800 NBAS SHORT syndrome, 269880 269880 PIK3R1 Short-rib thoracic dysplasia 1 with or without polydactyly SRTD1 Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 615630 IFT172 Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 615633 WDR34 Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 616300 CEP120 Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 611263 IFT80 Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 613091 DYNC2H1 Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 613819 TTC21B Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 263520 NEK1 Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 614091 WDR35 Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 615503 WDR60 Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 266920 IFT140 Shprintzen-Goldberg syndrome, 182212 182212 SKI Shwachman-Bodian-Diamond syndrome, 260400 260400 SBDS Sialic acid storage disorder, infantile, 269920 269920 SLC17A5 Sialidosis, type I, 256550 256550 NEU1 Sialidosis, type II, 256550 256550 NEU1 Sialuria, 269921 269921 GNE Sick sinus syndrome 1, 608567 608567 SCN5A Sick sinus syndrome 2, 163800 163800 HCN4 Sickle cell anemia, 603903 603903 HBB Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 616084 TRNT1 Silver spastic paraplegia syndrome, 270685 270685 BSCL2 Silver-Russell syndrome SRS Silver-Russell syndrome, 180860 180860 H19 Simpson-Golabi-Behmel syndrome, type 1, 312870 312870 GPC3 Simpson-Golabi-Behmel syndrome, type 2, 300209 300209 OFD1 Single median maxillary central incisor, 147250 147250 SHH Singleton-Merten syndrome 1, 182250 182250 IFIH1 Singleton-Merten syndrome 2, 616298 616298 DDX58 Sinoatrial node dysfunction and deafness, 614896 614896 CACNA1D Sitosterolemia, 210250 210250 ABCG5 Sitosterolemia, 210250 210250 ABCG8 Sjogren-Larsson syndrome, 270200 270200 ALDH3A2 Skeletal defects, genital hypoplasia, and mental retardation, 612447 612447 ZBTB16 Skin fragility-woolly hair syndrome, 607655 607655 DSP Small cell cancer of the lung, somatic, 182280 182280 RB1 Small fiber neuropathy, 133020 133020 SCN9A Small patella syndrome, 147891 147891 TBX4 Small-cell cancer of lung SCLC1 SMED Strudwick type, 184250 184250 COL2A1 Smith-Lemli-Opitz syndrome, 270400 270400 DHCR7 Smith-Magenis syndrome, 182290 182290 RAI1 Smith-McCort dysplasia 2, 615222 615222 RAB33B Smith-McCort dysplasia, 607326 607326 DYM Snowflake vitreoretinal degeneration, 193230 193230 KCNJ13 Somatostatin analog, resistance to SSTR5 Sorsby fundus dystrophy, 136900 136900 TIMP3 Sotos syndrome 1, 117550 117550 NSD1 Sotos syndrome 2, 614753 614753 NFIX Spastic ataxia 1, autosomal dominant, 108600 108600 VAMP1 Spastic ataxia 2, autosomal recessive, 611302 611302 KIF1C Spastic ataxia 3, autosomal recessive, 611390 611390 MARS2 Spastic ataxia, Charlevoix-Saguenay type, 270550 270550 SACS Spastic paralysis, infantile onset ascending, 607225 607225 ALS2 Spastic paraplegia 10, autosomal dominant, 604187 604187 KIF5A Spastic paraplegia 11, autosomal recessive, 604360 604360 SPG11 Spastic paraplegia 12, autosomal dominant, 604805 604805 RTN2 Spastic paraplegia 13, autosomal dominant, 605280 605280 HSPD1 Spastic paraplegia 14, autosomal recessive SPG14 Spastic paraplegia 15, autosomal recessive, 270700 270700 ZFYVE26 Spastic paraplegia 16, X-linked, complicated SPG16 Spastic paraplegia 18, autosomal recessive, 611225 611225 ERLIN2 Spastic paraplegia 19, autosomal dominant SPG19 Spastic paraplegia 2, X-linked, 312920 312920 PLP1 Spastic paraplegia 23 SPG23 Spastic paraplegia 24, autosomal recessive SPG24 Spastic paraplegia 25, autosomal recessive SPG25 Spastic paraplegia 26, autosomal recessive SPG26 Spastic paraplegia 26, autosomal recessive, 609195 609195 B4GALNT1 Spastic paraplegia 27, autosomal recessive SPG27 Spastic paraplegia 28, autosomal recessive, 609340 609340 DDHD1 Spastic paraplegia 29, autosomal dominant SPG29 Spastic paraplegia 30, autosomal recessive, 610357 610357 KIF1A Spastic paraplegia 31, autosomal dominant, 610250 610250 REEP1 Spastic paraplegia 32, autosomal recessive SPG32 Spastic paraplegia 33, autosomal dominant, 610244 610244 ZFYVE27 Spastic paraplegia 34, X-linked SPG34 Spastic paraplegia 35, autosomal recessive, 612319 612319 FA2H Spastic paraplegia 36, autosomal dominant SPG36 Spastic paraplegia 37, autosomal dominant SPG37 Spastic paraplegia 38, autosomal dominant SPG38 Spastic paraplegia 39, autosomal recessive, 612020 612020 PNPLA6 Spastic paraplegia 3A, autosomal dominant, 182600 182600 ATL1 Spastic paraplegia 4, autosomal dominant, 182601 182601 SPAST Spastic paraplegia 42, autosomal dominant, 612539 612539 SLC33A1 Spastic paraplegia 44, autosomal recessive, 613206 613206 GJC2 Spastic paraplegia 45, 613162 613162 NT5C2 Spastic paraplegia 46, autosomal recessive, 614409 614409 GBA2 Spastic paraplegia 47, autosomal recessive, 614066 614066 AP4B1 Spastic paraplegia 48, autosomal recessive, 613647 613647 AP5Z1 Spastic paraplegia 49, autosomal recessive, 615031 615031 TECPR2 Spastic paraplegia 50, autosomal recessive, 612936 612936 AP4M1 Spastic paraplegia 51, autosomal recessive, 613744 613744 AP4E1 Spastic paraplegia 52, autosomal recessive, 614067 614067 AP4S1 Spastic paraplegia 53, autosomal recessive, 614898 614898 VPS37A Spastic paraplegia 54, autosomal recessive, 615033 615033 DDHD2 Spastic paraplegia 55, autosomal recessive, 615035 615035 C12orf65 Spastic paraplegia 56, autosomal recessive, 615030 615030 CYP2U1 Spastic paraplegia 5A, autosomal recessive, 270800 270800 CYP7B1 Spastic paraplegia 6, autosomal dominant, 600363 600363 NIPA1 Spastic paraplegia 64, 615683 615683 ENTPD1 Spastic paraplegia 7, autosomal recessive, 607259 607259 PGN Spastic paraplegia 8, autosomal dominant, 603563 603563 KIAA0196 Spastic paraplegia 9, autosomal dominant SPG9 Spastic paraplegia, optic atrophy, and neuropathy SPOAN Specific granule deficiency, 245480 245480 CEBPE Specific language impairment QTL, 1 1 SLI1 Specific language impairment QTL, 2 2 SLI2 Specific language impairment QTL, 3 3 SLI3 Speech-language disorder-1, 602081 602081 FOXP2 Spermatocytic seminoma, somatic, 273300 273300 FGFR3 Spermatogenic failure 10, 614822 614822 SEPT12 Spermatogenic failure 11, 615081 615081 KLHL10 Spermatogenic failure 12, 615413 615413 NANOS1 Spermatogenic failure 2 SPGF2 Spermatogenic failure 3, 606766 606766 SLC26A8 Spermatogenic failure 4, 270960 270960 SYCP3 Spermatogenic failure 5, 243060 243060 STK13 Spermatogenic failure 7, 612997 612997 CATSPER1 Spermatogenic failure 8, 613957 613957 NR5A1 Spermatogenic failure 9, 613958 613958 DPY19L2 Spermatogenic failure, X-linked, 2 2 SPGFX2 Spermatogenic failure, Y-linked, 1 1 DELYq11 Spermatogenic failure, Y-linked, 2, 415000 415000 USP9Y Spherocytosis, hereditary, type 5, 612690 612690 EPB42 Spherocytosis, type 1, 182900 182900 ANK1 Spherocytosis, type 2 SPTB Spherocytosis, type 3, 270970 270970 SPTA1 Spherocytosis, type 4, 612653 612653 SLC4A1 Spiegler-Brooke syndrome SBS Spinal and bulbar muscular atrophy of Kennedy, 313200 313200 AR Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 159950 ASAH1 Spinal muscular atrophy, chronic distal, autosomal recessive SMAR Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 611067 PLEKHG5 Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 614881 DNAJB2 Spinal muscular atrophy, distal, congenital nonprogressive, 600175 600175 TRPV4 Spinal muscular atrophy, distal, X-linked 3, 300489 300489 ATP7A Spinal muscular atrophy, Jokela type, 615048 615048 CHCHD10 Spinal muscular atrophy, late-onset, Finkel type, 182980 182980 VAPB Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 158600 DYNC1H1 Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 615290 BICD2 Spinal muscular atrophy, X-linked 2, infantile, 301830 301830 UBA1 Spinal muscular atrophy-1, 253300 253300 SMN1 Spinal muscular atrophy-2, 253550 253550 SMN1 Spinal muscular atrophy-3, 253400 253400 SMN1 Spinal muscular atrophy-4, 271150 271150 SMN1 Spinocerebellar ataxia 1, 164400 164400 ATXN1 Spinocerebellar ataxia 10, 603516 603516 ATXN10 Spinocerebellar ataxia 11, 604432 604432 TTBK2 Spinocerebellar ataxia 12, 604326 604326 PPP2R2B Spinocerebellar ataxia 13, 605259 605259 KCNC3 Spinocerebellar ataxia 14, 605361 605361 PRKCG Spinocerebellar ataxia 15, 606658 606658 ITPR1 Spinocerebellar ataxia 17, 607136 607136 TBP Spinocerebellar ataxia 18 SCA18 Spinocerebellar ataxia 19, 607346 607346 KCND3 Spinocerebellar ataxia 2, 183090 183090 ATXN2 Spinocerebellar ataxia 20 SCA20 Spinocerebellar ataxia 21, 607454 607454 TMEM240 Spinocerebellar ataxia 23, 610245 610245 PDYN Spinocerebellar ataxia 25 SCA25 Spinocerebellar ataxia 27, 609307 609307 FGF14 Spinocerebellar ataxia 28, 610246 610246 AFG3L2 Spinocerebellar ataxia 29, congenital nonprogressive, 117360 117360 ITPR1 Spinocerebellar ataxia 31, 117210 117210 BEAN Spinocerebellar ataxia 32 SCA32 Spinocerebellar ataxia 35, 613908 613908 TGM6 Spinocerebellar ataxia 36, 614153 614153 NOP56 Spinocerebellar ataxia 37 SCA37 Spinocerebellar ataxia 38, 615957 615957 ELOVL5 Spinocerebellar ataxia 4 SCA4 Spinocerebellar ataxia 5, 600224 600224 SPTBN2 Spinocerebellar ataxia 6, 183086 183086 CACNA1A Spinocerebellar ataxia 7, 164500 164500 ATXN7 Spinocerebellar ataxia 8, 608768 608768 ATXN8OS Spinocerebellar ataxia 8, 608768 608768 ATXN8 Spinocerebellar ataxia, autosomal recessive 1, 606002 606002 SETX Spinocerebellar ataxia, autosomal recessive 10, 613728 613728 ANO10 Spinocerebellar ataxia, autosomal recessive 11, 614229 614229 SYT14 Spinocerebellar ataxia, autosomal recessive 12 SCAR12 Spinocerebellar ataxia, autosomal recessive 13, 614831 614831 GRM1 Spinocerebellar ataxia, autosomal recessive 14, 615386 615386 SPTBN2 Spinocerebellar ataxia, autosomal recessive 16, 615768 615768 STUB1 Spinocerebellar ataxia, autosomal recessive 18, 616204 616204 GRID2 Spinocerebellar ataxia, autosomal recessive 2 SCAR2 Spinocerebellar ataxia, autosomal recessive 20, 616354 616354 SNX14 Spinocerebellar ataxia, autosomal recessive 3 SCAR3 Spinocerebellar ataxia, autosomal recessive 4 SCAR4 Spinocerebellar ataxia, autosomal recessive 5, 606937 606937 ZNF592 Spinocerebellar ataxia, autosomal recessive 6 SCAR6 Spinocerebellar ataxia, autosomal recessive 7, 609270 609270 TPP1 Spinocerebellar ataxia, autosomal recessive 8, 610743 610743 SYNE1 Spinocerebellar ataxia, autosomal recessive with axonal neuropathy, 607250 607250 TDP1 Spinocerebellar ataxia, X-linked 5 SCAX5 Spinocrebellar ataxia, autosomal recessive 12, 614322 614322 WWOX Split hand/foot malformation 1 SHFM1 Split hand/foot malformation 2 SHFM2 Split-hand/foot malformation 3, gene duplication syndrome SHFM3 Split-hand/foot malformation 4, 605289 605289 TP63 Split-hand/foot malformation 5 SHFM5 Split-hand/foot malformation 6, 225300 225300 WNT10B Split-hand/foot malformation with long bone deficiency 1 SHFL1 Split-hand/foot malformation with long bone deficiency 2 SHFLD2 Split-hand/foot malformation with long bone deficiency 3 SHFLD3 Spondylocarpotarsal synostosis syndrome, 272460 272460 FLNB Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350 612350 SLC39A13 Spondylocostal dysostosis 1, autosomal recessive, 277300 277300 DLL3 Spondylocostal dysostosis 2, autosomal recessive, 608681 608681 MESP2 Spondylocostal dysostosis 4, autosomal recessive, 613686 613686 HES7 Spondylocostal dysostosis 5, autosomal dominant, 122600 122600 TBX6 Spondyloenchondrodysplasia with immune dysregulation, 607944 607944 ACP5 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 271640 B3GALT6 Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 603546 KIF22 Spondyloepimetaphyseal dysplasia, 608728 608728 MATN3 Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 612813 ACAN Spondyloepimetaphyseal dysplasia, Missouri type, 602111 602111 MMP13 Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 208230 WISP3 Spondyloepiphyseal dysplasia tarda, 313400 313400 TRAPPC2 Spondyloepiphyseal dysplasia tarda, autosomal dominant SPDT Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 143095 CHST3 Spondyloepiphyseal dysplasia, Kimberley type, 608361 608361 ACAN Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 613330 NKX3-2 Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 271665 DDR2 Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 608940 PCYT1A Spondylometaphyseal dysplasia, Kozlowski type, 184252 184252 TRPV4 Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, 613320 613320 PAM16 Spondyloperipheral dysplasia, 271700 271700 COL2A1 Squamous cell carcinoma, burn scar-related, somatic FAS Squamous cell carcinoma, head and neck, 275355 275355 TNFRSF10B Squamous cell carcinoma, head and neck, somatic, 275355 275355 ING1 Squamous cell carcinoma, head and neck, somatic, 275355 275355 PTEN Stapes ankylosis with broad thumb and toes, 184460 184460 NOG STAR syndrome, 300707 300707 FAM58A Stargardt disease 1, 248200 248200 ABCA4 Stargardt disease 3, 600110 600110 ELOVL4 Stargardt disease 4 STGD4 Stargardt disease 4, 603786 603786 PROM1 Steatocystoma multiplex, 184500 184500 KRT17 Stickler sydrome, type I, nonsyndromic ocular, 609508 609508 COL2A1 Stickler syndrome, type I, 108300 108300 COL2A1 Stickler syndrome, type II, 604841 604841 COL11A1 Stickler syndrome, type III, 184840 184840 COL11A2 Stickler syndrome, type IV, 614134 614134 COL9A1 Stiff skin syndrome, 184900 184900 FBN1 STING-associated vasculopathy, infantile-onset, 615934 615934 TMEM173 Stormorken syndrome, 185070 185070 STIM1 Striatal degeneration, autosomal dominant, 609161 609161 PDE8B Striatonigral degeneration, infantile, 271930 271930 NUP62 Sturge-Weber syndrome, somatic, mosaic, 185300 185300 GNAQ Stuttering, familial persistent, 1 1 STUT1 Stuttering, familial persistent, 2 2 STUT2 Stuttering, familial persistent, 3 3 STUT3 Stuttering, familial persistent, 4 4 STUT4 Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 601559 LIFR Subcortical laminal heteropia, X-linked, 300067 300067 DCX Subcortical laminar heterotopia, 607432 607432 PAFAH1B1 Succinic semialdehyde dehydrogenase deficiency, 271980 271980 ALDH5A1 Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 245050 OXCT1 Sucrase-isomaltase deficiency, congenital, 222900 222900 SI Sudden infant death with dysgenesis of the testes syndrome, 608800 608800 TSPYL1 Sulfite oxidase deficiency, 272300 272300 SUOX Supernumerary der DER22t8-22 Supranuclear palsy, progressive atypical, 260540 260540 MAPT Supranuclear palsy, progressive, 2 2 PSNP2 Supranuclear palsy, progressive, 3 3 PSNP3 Supranuclear palsy, progressive, 601104 601104 MAPT Supravalvar aortic stenosis, 185500 185500 ELN Surfactant metabolism dysfunction, pulmonary, 1, 265120 265120 SFTPB Surfactant metabolism dysfunction, pulmonary, 2, 610913 610913 SFTPC Surfactant metabolism dysfunction, pulmonary, 3, 610921 610921 ABCA3 Surfactant metabolism dysfunction, pulmonary, 4, 300770 300770 CSF2RA Surfactant metabolism dysfunction, pulmonary, 5, 614370 614370 CSF2RB Sveinsson choreoretinal atrophy, 108985 108985 TEAD1 Sweat chloride elevation without CF CFTR Symphalangism, proximal, 185800 185800 NOG Symphalangism, proximal, 1B, 615298 615298 GDF5 Syncope, familial vasovagal VVS Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 609432 BHLHA9 Syndactyly, type 1 CUP2q35 Syndactyly, type III, 186100 186100 GJA1 Syndactyly, type IV, 186200 186200 LMBR1 Syndactyly, type V, 186300 186300 HOXD13 Synesthesia SYNSTH Synpolydactyly 3 SPD3 Synpolydactyly with foot anomalies, 186000 186000 HOXD13 Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 608180 FBLN1 Synpolydactyly, type II, 186000 186000 HOXD13 Systemic lupus erythematosus 16, 614420 614420 DNASE1L3 Tangier disease, 205400 205400 ABCA1 TARP syndrome, 311900 311900 RBM10 Tarsal-carpal coalition syndrome, 186570 186570 NOG Tatton-Brown-Rahman syndrome, 615879 615879 DNMT3A Tay-Sachs disease, 272800 272800 HEXA T-cell acute lymphoblastic leukemia, somatic, 613065 613065 BAX T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 601705 FOXN1 T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868 614868 STK4 T-cell prolymphocytic leukemia, somatic ATM Telangiectasia, hereditary benign HBT Telangiectasia, hereditary hemorrhagic, type 1, 187300 187300 ENG Telangiectasia, hereditary hemorrhagic, type 2, 600376 600376 ACVRL1 Telangiectasia, hereditary hemorrhagic, type 3 HHT3 Telangiectasia, hereditary hemorrhagic, type 4 HHT4 Telangiectasia, hereditary hemorrhagic, type 5, 615506 615506 GDF2 Temple syndrome TEMPS Temple-Baraitser syndrome, 611816 611816 KCNH1 Temtamy preaxial brachydactyly syndrome, 605282 605282 CHSY1 Temtamy syndrome, 218340 218340 C12orf57 Tenorio syndrome, 616260 616260 RNF125 Terminal osseous dysplasia, 300244 300244 FLNA Testicular germ cell tumor TGCT1 Testicular tumor, somatic, 273300 273300 STK11 Tetralogy of Fallot, 187500 187500 GATA4 Tetralogy of Fallot, 187500 187500 GATA6 Tetralogy of Fallot, 187500 187500 JAG1 Tetralogy of Fallot, 187500 187500 TBX1 Tetralogy of Fallot, 187500 187500 GDF1 Tetralogy of Fallot, 187500 187500 ZFPM2 Tetrasomy 18p TET18P Tetrology of Fallot, 187500 187500 NKX2-5 Thalassemia due to Hb Lepore HBD Thalassemia, alpha-, 604131 604131 HBA2 Thalassemia, delta- HBD Thalassemia, Hispanic gamma-delta-beta, 613985 613985 LCRB Thalassemia-beta, dominant inclusion-body, 603902 603902 HBB Thalassemias, alpha-, 604131 604131 HBA1 Thalassemias, beta-, 613985 613985 HBB Thanatophoric dysplasia, type I, 187600 187600 FGFR3 Thanatophoric dysplasia, type II, 187601 187601 FGFR3 Thiamine metabolism dysfunction syndrome 2 SLC19A3 Thiamine metabolism dysfunction syndrome 4 SLC25A19 Thiamine metabolism dysfunction syndrome 5 TPK1 Thiamine-responsive megaloblastic anemia syndrome, 249270 249270 SLC19A2 Thoracoabdominal syndrome THAS Thrombocythemia 1, 187950 187950 THPO Thrombocythemia 2, 601977 601977 MPL Thrombocythemia 3, 614521 614521 JAK2 Thrombocythemia, somatic, 187950 187950 CALR Thrombocythemia, somatic, 187950 187950 SH2B3 Thrombocythemia, X-linked THCYTX Thrombocytopenia 2, 188000 188000 ANKRD26 Thrombocytopenia 4, 612004 612004 CYCS Thrombocytopenia 5, 616216 616216 ETV6 Thrombocytopenia with beta-thalassemia, X-linked, 314050 314050 GATA1 Thrombocytopenia, congenital amegakaryocytic, 604498 604498 MPL Thrombocytopenia, neonatal alloimmune ITGB3 Thrombocytopenia, neonatal alloimmune, BAK antigen related ITGA2B Thrombocytopenia, X-linked, 313900 313900 WAS Thrombocytopenia, X-linked, intermittent, 313900 313900 WAS Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 300367 GATA1 Thrombocytopenia-absent radius syndrome, 274000 274000 RBM8A Thrombocytopenic purpura, autoimmune, 188030 188030 FCGR2C Thrombophilia due to activated protein C resistance, 188055 188055 F5 Thrombophilia due to antithrombin III deficiency, 613118 613118 SERPINC1 Thrombophilia due to elevated HRG, 613116 613116 HRG Thrombophilia due to heparin cofactor II deficiency, 612356 612356 HCF2 Thrombophilia due to HRG deficiency, 613116 613116 HRG Thrombophilia due to protein C deficiency, autosomal dominant, 176860 176860 PROC Thrombophilia due to protein C deficiency, autosomal recessive, 612304 612304 PROC Thrombophilia due to protein S deficiency, autosomal dominant, 612336 612336 PROS1 Thrombophilia due to protein S deficiency, autosomal recessive, 614514 614514 PROS1 Thrombophilia due to thrombin defect, 188050 188050 F2 Thrombophilia due to thrombomodulin defect, 614486 614486 THBD Thrombophilia, familial, due to decreased release of PLAT, 612348 612348 PLAT Thrombophilia, X-linked, due to factor IX defect, 300807 300807 F9 Thrombosis, hyperhomocysteinemic, 236200 236200 CBS Thrombotic thrombocytopenic purpura, familial, 274150 274150 ADAMTS13 Thryoid dyshormonogenesis 6, 607200 607200 DUOX2 Thyroid adenoma, hyperfunctioning, somatic TSHR Thyroid carcinoma with thyrotoxicosis TSHR Thyroid carcinoma, follicular, 188470 188470 MINPP1 Thyroid carcinoma, follicular, somatic, 188470 188470 NRAS Thyroid carcinoma, follicular, somatic, 188470 188470 PTEN Thyroid carcinoma, nonmedullary, 1 1 NMTC1 Thyroid carcinoma, nonmedullary, with cell oxyphilia TCO Thyroid carcinoma, papillary, 188550 188550 PCM1 Thyroid carcinoma, papillary, 188550 188550 NCOA4 Thyroid carcinoma, papillary, 188550 188550 TRIM24 Thyroid carcinoma, papillary, 188550 188550 TRIM33 Thyroid carcinoma, papillary, 188550 188550 GOLGA5 Thyroid carcinoma, papillary, somatic, 188550 188550 PRKAR1A Thyroid carcinoma, papillary, with papillary renal neoplasia PTCPRN Thyroid dyshormonogenesis 1, 274400 274400 SLC5A5 Thyroid dyshormonogenesis 2A, 274500 274500 TPO Thyroid dyshormonogenesis 3, 274700 274700 TG Thyroid dyshormonogenesis 4, 274800 274800 IYD Thyroid dyshormonogenesis 5, 274900 274900 DUOXA2 Thyroid hormone metabolism, abnormal, 609698 609698 SECISBP2 Thyroid hormone resistance, 188570 188570 THRB Thyroid hormone resistance, autosomal recessive, 274300 274300 THRB Thyroid hormone resistance, selective pituitary, 145650 145650 THRB Thyroid papillary carcinoma, 188550 188550 CCDC6 Thyrotropin-releasing hormone deficiency, 275120 275120 TRH Thyrotropin-releasing hormone resistance, generalized TRHR Thyroxine-binding globulin deficiency TBG Tibial muscular dystrophy, tardive, 600334 600334 TTN Tietz albinism-deafness syndrome, 103500 103500 MITF Timothy syndrome, 601005 601005 CACNA1C Tn polyagglutination syndrome, somatic, 300622 300622 C1GALT1C1 Toenail dystrophy, isolated, 607523 607523 COL7A1 Tolbutamide poor metabolizer CYP2C9 Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 106600 MSX1 Tooth agenesis, selective, 2 2 STHAG2 Tooth agenesis, selective, 3, 604625 604625 PAX9 Tooth agenesis, selective, 4, 150400 150400 WNT10A Tooth agenesis, selective, 5 5 STHAG5 Tooth agenesis, selective, 6, 613097 613097 LTBP3 Tooth agenesis, selective, X-linked 1, 313500 313500 ED1 Total anomalous pulmonary venous return TAPVR1 Tourette syndrome GTS Tourette syndrome, 137580 137580 SLITRK1 Townes-Brocks branchiootorenal-like syndrome, 107480 107480 SALL1 Townes-Brocks syndrome, 107480 107480 SALL1 Traboulsi syndrome, 601552 601552 ASPH Transaldolase deficiency, 606003 606003 TALDO1 Transcobalamin II deficiency, 275350 275350 TCN2 Transient bullous of the newborn, 131705 131705 COL7A1 Transient erythroblastopenia of childhood TEC Transposition of great arteries, dextro-looped 3, 613854 613854 GDF1 Transposition of the great arteries, dextro-looped 1, 608808 608808 MED13L Transposition of the great arteries, dextro-looped 2, 613853 613853 CFC1 Treacher Collins syndrome 1, 154500 154500 TCOF1 Treacher Collins syndrome 2, 613717 613717 POLR1D Treacher Collins syndrome 3, 248390 248390 POLR1C Trehalase deficiency, 612119 612119 TREH Tremor, hereditary essential, 2 2 ETM2 Tremor, hereditary essential, 3 3 ETM3 Tremor, hereditary essential, 4, 614782 614782 FUS Trichilemmal cyst 1 TRICY1 Trichodontoosseous syndrome, 190320 190320 DLX3 Trichoepithelioma, multiple familial, 1, 601606 601606 CYLD Trichoepithelioma, multiple familial, 2 2 MFT2 Trichohepatoenteric syndrome 1, 222470 222470 TTC37 Trichohepatoenteric syndrome 2, 614602 614602 SKIV2L Trichomegaly, 190330 190330 FGF5 Trichorhinophalangeal syndrome, type I, 190350 190350 TRPS1 Trichorhinophalangeal syndrome, type II TRPS2 Trichorhinophalangeal syndrome, type III, 190351 190351 TRPS1 Trichothiodystrophy, 601675 601675 ERCC2 Trichothiodystrophy, 601675 601675 ERCC3 Trichothiodystrophy, complementation group A, 601675 601675 GTF2H5 Trichothiodystrophy, nonphotosensitive 1, 234050 234050 MPLKIP Trichotillomania, 613229 613229 SLITRK1 Trifunctional protein deficiency, 609015 609015 HADHB Trifunctional protein deficiency, 609015 609015 HADHA Trigonocephaly 1, 190440 190440 FGFR1 Trigonocephaly 2, 614485 614485 FREM1 Trimethylaminuria, 602079 602079 FMO3 Triphalangeal thumb, type I, 174500 174500 LMBR1 Triphalangeal thumb-polysyndactyly syndrome, 174500 174500 LMBR1 Trismus-pseudocamptodactyly syndrome, 158300 158300 MYH8 Tropical calcific pancreatitis, 608189 608189 SPINK1 Troyer syndrome, 275900 275900 SPG20 Trypsinogen deficiency, 614044 614044 PRSS1 Tuberous sclerosis-1, 191100 191100 TSC1 Tuberous sclerosis-2, 613254 613254 TSC2 Tukel syndrome TUKLS Tumor predisposition syndrome, 614327 614327 BAP1 Tumoral calcinosis, familial, normophosphatemic, 610455 610455 SAMD9 Tumoral calcinosis, hyperphosphatemic, 211900 211900 KL Tumoral calcinosis, hyperphosphatemic, familial, 211900 211900 GALNT3 Tumoral calcinosis, hyperphosphatemic, familial, 211900 211900 FGF23 Turner syndrome-associated neurocognitive phenotype VSPA Tylosis with esophageal cancer, 148500 148500 RHBDF2 Tyrosinemia, type I, 276700 276700 FAH Tyrosinemia, type Ib GSTZ1 Tyrosinemia, type II, 276600 276600 TAT Tyrosinemia, type III, 276710 276710 HPD Ullrich congenital muscular dystrophy, 254090 254090 COL6A1 Ullrich congenital muscular dystrophy, 254090 254090 COL6A2 Ullrich congenital muscular dystrophy, 254090 254090 COL6A3 Ulna and fibula, absence of, with severe limb deficiency, 276820 276820 WNT7A Ulnar-mammary syndrome, 181450 181450 TBX3 Urbach-Wiethe disease, 247100 247100 ECM1 Urofacial syndrome 1, 236730 236730 HPSE2 Urofacial syndrome 2, 615112 615112 LRIG2 Usher syndrome type 3B, 614504 614504 HARS Usher syndrome, type 1B, 276900 276900 MYO7A Usher syndrome, type 1C, 276904 276904 USH1C Usher syndrome, type 1D, 601067 601067 CDH23 Usher syndrome, type 1D/F digenic, 601067 601067 PCDH15 Usher syndrome, type 1D/F digenic, 601067 601067 CDH23 Usher syndrome, type 1E USH1E Usher syndrome, type 1F, 602083 602083 PCDH15 Usher syndrome, type 1G, 606943 606943 SANS Usher syndrome, type 1H USH1H Usher syndrome, type 2A, 276901 276901 USH2A Usher syndrome, type 2C, 605472 605472 GPR98 Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 605472 GPR98 Usher syndrome, type 2D, 611383 611383 WHRN Usher syndrome, type 3A, 276902 276902 CLRN1 Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 605472 PDZD7 Usher syndrome, type IJ, 614869 614869 CIB2 Usher syndrome, type IK USH1K UV-sensitive syndrome 1, 600630 600630 ERCC6 UV-sensitive syndrome 2, 614621 614621 ERCC8 UV-sensitive syndrome 3, 614640 614640 UVSSA VACTERL association, X-linked, 314390 314390 ZIC3 Van Buchem disease, 239100 239100 SOST van Buchem disease, type 2, 607636 607636 LRP5 Van den Ende-Gupta syndrome, 600920 600920 SCARF2 Van der Woude syndrome 2, 606713 606713 GRHL3 van der Woude syndrome, 119300 119300 IRF6 Van Maldergem syndrome 1, 601390 601390 DCHS1 Van Maldergem syndrome 2, 615546 615546 FAT4 Vasculopathy, retinal, with cerebral leukodystrophy, 192315 192315 TREX1 VATER association with macrocephaly and ventriculomegaly, 276950 276950 PTEN Velocardiofacial syndrome, 192430 192430 TBX1 Venous malformations, multiple cutaneous and mucosal, 600195 600195 TEK Ventricular fibrillation, familial, 1, 603829 603829 SCN5A Ventricular septal defect 1, 614429 614429 GATA4 Ventricular septal defect 2, 614431 614431 CITED2 Ventricular septal defect 3, 614432 614432 NKX2-5 Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 604772 RYR2 Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 611938 CASQ2 Ventricular tachycardia, catecholaminergic polymorphic, 3 3 CPVT3 Ventricular tachycardia, catecholaminergic polymorphic, 4, 614916 614916 CALM1 Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 615441 TRDN Ventricular tachycardia, idiopathic, 192605 192605 GNAI2 Ventriculomegaly with cystic kidney disease, 219730 219730 CRB2 Verheij syndrome, 615583 615583 PUF60 Vertical talus, congenital, 192950 192950 HOXD10 Vertigo, benign recurrent, 2 2 BRV2 Vesicoureteral reflux VUR Vesicoureteral reflux 2, 610878 610878 ROBO2 Vesicoureteral reflux 3, 613674 613674 SOX17 Vesicoureteral reflux 4 VUR4 Vesicoureteral reflux 5 VUR5 Vesicoureteral reflux 6 VUR6 Vesicoureteral reflux 7 VUR7 Vesicoureteral reflux 8, 615963 615963 TNXB Vestibulopathy, familial BPPV Vici syndrome, 242840 242840 EPG5 Visceral myopathy, 155310 155310 ACTG2 Vitamin D-dependent rickets, type I, 264700 264700 CYP27B1 Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 277450 GGCX Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 607473 VKORC1 Vitelliform macular dystrophy 2, 153700 153700 BEST1 Vitreoretinochoroidopathy, 193220 193220 BEST1 Vitreoretinopathy with phalangeal epiphyseal dysplasia COL2A1 Vitreoretinopathy, neovascular inflammatory, 193235 193235 CAPN5 VLCAD deficiency, 201475 201475 ACADVL Vohwinkel syndrome with ichthyosis, 604117 604117 LOR Vohwinkel syndrome, 124500 124500 GJB2 von Hippel-Lindau syndrome, 193300 193300 VHL von Willebrand disease, platelet-type, 177820 177820 GP1BA von Willebrand disease, type 1, 193400 193400 VWF von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 613554 VWF von Willibrand disease, type 3, 277480 277480 VWF Waardenburg syndrome, type 1, 193500 193500 PAX3 Waardenburg syndrome, type 2A, 193510 193510 MITF Waardenburg syndrome, type 2B WS2B Waardenburg syndrome, type 2C WS2C Waardenburg syndrome, type 2D, 608890 608890 SNAI2 Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 611584 SOX10 Waardenburg syndrome, type 3, 148820 148820 PAX3 Waardenburg syndrome, type 4A, 277580 277580 EDNRB Waardenburg syndrome, type 4B, 613265 613265 EDN3 Waardenburg syndrome, type 4C, 613266 613266 SOX10 Waardenburg syndrome/albinism, digenic, 103470 103470 TYR Waardenburg syndrome/ocular albinism, digenic, 103470 103470 MITF Wagner syndrome 1, 143200 143200 VCAN WAGRO syndrome WAGRO Warburg micro syndrome 1, 600118 600118 RAB3GAP1 Warburg micro syndrome 2, 614225 614225 RAB3GAP2 Warburg micro syndrome 3, 614222 614222 RAB18 Warburg micro syndrome 4, 615663 615663 TBC1D20 Warfarin resistance, 122700 122700 VKORC1 Warfarin sensitivity, 122700 122700 CYP2C9 Warsaw breakage syndrome, 613398 613398 DDX11 Watson syndrome, 193520 193520 NF1 Weaver syndrome, 277590 277590 EZH2 Wegener granulomatosis WG Wegener-like granulomatosis TAP2 Weill-Marchesani syndrome 1, recessive, 277600 277600 ADAMTS10 Weill-Marchesani syndrome 2, dominant, 608328 608328 FBN1 Weill-Marchesani syndrome 3, recessive, 614819 614819 LTBP2 Weill-Marchesani-like syndrome, 613195 613195 ADAMTS17 Weissenbacher-Zweymuller syndrome, 277610 277610 COL11A2 Welander distal myopathy WDM Welander distal myopathy, 604454 604454 TIA1 Werner syndrome, 277700 277700 RECQL2 Weyers acrodental dysostosis, 193530 193530 EVC Weyers acrofacial dysostosis, 193530 193530 LBN WHIM syndrome, 193670 193670 CXCR4 White sponge nevus 1, 193900 193900 KRT4 White sponge nevus 2, 615785 615785 KRT13 Wieacker-Wolff syndrome, 314580 314580 ZC4H2 Wiedemann-Steiner syndrome, 605130 605130 KMT2A Williams-Beuren syndrome WBS Wilms tumor 2, 194071 194071 H19 Wilms tumor, 194070 194070 BRCA2 Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome DEL11p13 Wilms tumor, somatic, 194070 194070 GPC3 Wilms tumor, type 1, 194070 194070 WT1 Wilms tumor, type 3 WT3 Wilms tumor, type 4 WT4 Wilson disease, 277900 277900 ATP7B Wilson-Turner syndrome, 309585 309585 HDAC8 Wiskott-Aldrich syndrome, 301000 301000 WAS Wolcott-Rallison syndrome, 226980 226980 EIF2AK3 Wolff-Parkinson-White syndrome, 194200 194200 PRKAG2 Wolf-Hirschhorn syndrome WHS Wolfram syndrome 2, 604928 604928 CISD2 Wolfram syndrome, 222300 222300 WFS1 Wolfram-like syndrome, autosomal dominant, 614296 614296 WFS1 Wolman disease, 278000 278000 LIPA Wood neuroimmunologic syndrome INDX Woodhouse-Sakati syndrome, 241080 241080 DCAF17 Woolly hair, autosomal dominant, 194300 194300 KRT74 Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150 278150 LPAR6 Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379 604379 LIPH Wrinkly skin syndrome, 278250 278250 ATP6V0A2 X inactivation, familial skewed, 2 2 SXI2 Xanthinuria, type I, 278300 278300 XDH Xeroderma pigmentosum, group A, 278700 278700 XPA Xeroderma pigmentosum, group B, 610651 610651 ERCC3 Xeroderma pigmentosum, group C, 278720 278720 XPC Xeroderma pigmentosum, group D, 278730 278730 ERCC2 Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 278740 DDB2 Xeroderma pigmentosum, group F, 278760 278760 ERCC4 Xeroderma pigmentosum, group G, 278780 278780 ERCC5 Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 278780 ERCC5 Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 278760 ERCC4 Xeroderma pigmentosum, variant type, 278750 278750 POLH XFE progeroid syndrome, 610965 610965 ERCC4 Xia-Gibbs syndrome, 615829 615829 AHDC1 X-inactivation, familial skewed, 300087 300087 XIC Xp11.22 microduplication syndrome DUPXp11.22 Yunis-Varon syndrome, 216340 216340 FIG4 Zinc deficiency, transient neonatal, 608118 608118 SLC30A2 Zygodactyly 1 ZD1 . Autocompletamento abilitato. Clicca e digita il nome del gene. Il caricamento può richiedere 1-2 secondi. Cerca per GENE A2M Alpha-2-macroglobulin deficiency, 614036 A4GALT NOR polyagglutination syndrome, 111400 AA1 Alopecia areata 1 AA2 Alopecia areata 2 AAA1 Aortic aneurysm, familial abdominal 1 AAA2 Aortic aneurysm, familial abdominal 2 AAA4 Aortic aneurysm, familial abdominal, 4 AAAS Achalasia-addisonianism-alacrimia syndrome, 231550 AAGAB Keratoderma, palmoplantar, punctate type IA, 148600 AANAT {Delayed sleep phase syndrome, susceptibility to}, 614163 AARS Charcot-Marie-Tooth disease, axonal, type 2N, 613287 AARS Epileptic encephalopathy, early infantile, 29, 616339 AARS2 Combined oxidative phosphorylation deficiency 8, 614096 AARS2 Leukoencephalopathy, progressive, with ovarian failure, 615889 AASS Hyperlysinemia, 238700 AASS Saccharopinuria, 268700 AAT1 Aortic aneurysm, familial thoracic 1 AAT2 Aortic aneurysm, familial thoracic 2 ABAT GABA-transaminase deficiency, 613163 ABCA1 {Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 ABCA1 HDL deficiency, type 2, 604091 ABCA1 Tangier disease, 205400 ABCA12 Ichthyosis, autosomal recessive 4B ABCA12 Ichthyosis, congenital, autosomal recessive 4A, 601277 ABCA3 Surfactant metabolism dysfunction, pulmonary, 3, 610921 ABCA4 {Macular degeneration, age-related, 2}, 153800 ABCA4 Cone-rod dystrophy 3, 604116 ABCA4 Fundus flavimaculatus, 248200 ABCA4 Retinal dystrophy, early-onset severe, 248200 ABCA4 Retinitis pigmentosa 19, 601718 ABCA4 Stargardt disease 1, 248200 ABCB1 {Inflammatory bowel disease 13}, 612244 ABCB11 Cholestasis, benign recurrent intrahepatic, 2, 605479 ABCB11 Cholestasis, progressive familial intrahepatic 2, 601847 ABCB4 Cholestasis, intrahepatic, of pregnancy, 3, 614972 ABCB4 Cholestasis, progressive familial intrahepatic 3, 602347 ABCB4 Gallbladder disease 1, 600803 ABCB6 Dyschromatosis universalis hereditaria 3, 615402 ABCB6 Microphthalmia, isolated, with coloboma 7, 614497 ABCB7 Anemia, sideroblastic, with ataxia, 301310 ABCC2 Dubin-Johnson syndrome, 237500 ABCC6 Arterial calcification, generalized, of infancy, 2, 614473 ABCC6 Pseudoxanthoma elasticum, 264800 ABCC6 Pseudoxanthoma elasticum, forme fruste, 177850 ABCC8 Diabetes mellitus, noninsulin-dependent, 125853 ABCC8 Diabetes mellitus, permanent neonatal, 606176 ABCC8 Diabetes mellitus, transient neonatal 2, 610374 ABCC8 Hyperinsulinemic hypoglycemia, familial, 1, 256450 ABCC8 Hypoglycemia of infancy, leucine-sensitive, 240800 ABCC9 Atrial fibrillation, familial, 12, 614050 ABCC9 Cardiomyopathy, dilated, 1O, 608569 ABCC9 Hypertrichotic osteochondrodysplasia, 239850 ABCD1 Adrenoleukodystrophy, 300100 ABCD1 Adrenomyeloneuropathy, adult, 300100 ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type, 614857 ABCG5 Sitosterolemia, 210250 ABCG8 Gallbladder disease 4, 611465 ABCG8 Sitosterolemia, 210250 ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 ABHD5 Chanarin-Dorfman syndrome, 275630 ABL1 Leukemia, Philadelphia chromosome-positive, resistant to imatinib ABL2 Leukemia, acute myeloid, with eosinophilia ACACA Acetyl-CoA carboxylase deficiency, 613933 ACAD8 Isobutyryl-CoA dehydrogenase deficiency, 611283 ACAD9 Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 ACADM Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 ACADSB 2-methylbutyrylglycinuria, 610006 ACADVL VLCAD deficiency, 201475 ACAN Osteochondritis dissecans, short stature, and early-onset osteoarthritis, 165800 ACAN Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 ACAN Spondyloepiphyseal dysplasia, Kimberley type, 608361 ACAT1 Alpha-methylacetoacetic aciduria, 203750 ACE {Myocardial infarction, susceptibility to} ACE {SARS, progression of} ACE {Stroke, hemorrhagic}, 614519 ACE Renal tubular dysgenesis, 267430 ACF Cayler cardiofacial syndrome ACO2 Infantile cerebellar-retinal degeneration, 614559 ACOX1 Peroxisomal acyl-CoA oxidase deficiency, 264470 ACP Cerebral palsy, ataxic, autosomal recessive ACP33 Mast syndrome, 248900 ACP5 Spondyloenchondrodysplasia with immune dysregulation, 607944 ACRPS Acropectoral syndrome ACRPV Acropectorovertebral dysplasia ACSF3 Combined malonic and methylmalonic aciduria, 614265 ACSL4 Mental retardation, X-linked 63, 300387 ACSL6 Myelodysplastic syndrome ACSL6 Myelogenous leukemia, acute ACTA1 Myopathy, actin, congenital, with cores, 161800 ACTA1 Myopathy, actin, congenital, with excess of thin myofilaments, 161800 ACTA1 Myopathy, congenital, with fiber-type disproportion 1, 255310 ACTA1 Nemaline myopathy 3, autosomal dominant or recessive, 161800 ACTA2 Aortic aneurysm, familial thoracic 6, 611788 ACTA2 Moyamoya disease 5, 614042 ACTA2 Multisystemic smooth muscle dysfunction syndrome, 613834 ACTB Baraitser-Winter syndrome 1, 243310 ACTB Dystonia, juvenile-onset, 607371 ACTC1 Atrial septal defect 5, 612794 ACTC1 Cardiomyopathy, dilated, 1R, 613424 ACTC1 Cardiomyopathy, hypertrophic, 11, 612098 ACTC1 Left ventricular noncompaction 4, 613424 ACTG1 Baraitser-Winter syndrome 2, 614583 ACTG1 Deafness, autosomal dominant 20/26, 604717 ACTG2 Visceral myopathy, 155310 ACTN1 Bleeding disorder, platelet-type, 15, 615193 ACTN2 Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 ACTN2 Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 ACTN4 Glomerulosclerosis, focal segmental, 1, 603278 ACVR1 Fibrodysplasia ossificans progressiva, 135100 ACVR1B Pancreatic cancer, somatic ACVR2B Heterotaxy, visceral, 4, autosomal, 613751 ACVRL1 Telangiectasia, hereditary hemorrhagic, type 2, 600376 ACY1 Aminoacylase 1 deficiency, 609924 AD10 Alzheimer disease-10, 104300 AD11 Alzheimer disease-11 AD17 Alzheimer disease 17 AD5 Alzheimer disease-5, 104300 AD6 Alzheimer disease 6, 104300 AD7 Alzheimer disease-7 AD8 Alzheimer disease 8, 104300 ADA Adenosine deaminase deficiency, partial, 102700 ADA Severe combined immunodeficiency due to ADA deficiency, 102700 ADAM10 Reticulate acropigmentation of Kitamura, 615537 ADAM9 Cone-rod dystrophy 9, 612775 ADAMTS10 Weill-Marchesani syndrome 1, recessive, 277600 ADAMTS13 Thrombotic thrombocytopenic purpura, familial, 274150 ADAMTS17 Weill-Marchesani-like syndrome, 613195 ADAMTS18 Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 ADAMTS2 Ehlers-Danlos syndrome, type VIIC, 225410 ADAMTSL2 Geleophysic dysplasia 1, 231050 ADAMTSL4 Ectopia lentis et pupillae, 225200 ADAMTSL4 Ectopia lentis, isolated, autosomal recessive, 225100 ADAR Aicardi-Goutieres syndrome 6, 615010 ADAR Dyschromatosis symmetrica hereditaria, 127400 ADAT3 Mental retardation, autosomal recessive 36, 615286 ADCK3 Coenzyme Q10 deficiency, primary, 4, 612016 ADCK4 Nephrotic syndrome, type 9, 615573 ADCY10 {Hypercalciuria, absorptive, susceptibility to}, 143870 ADCY5 Dyskinesia, familial, with facial myokymia, 606703 ADD1 {Hypertension, essential, salt-sensitive}, 145500 ADFN Albinism-deafness syndrome ADH1C {Parkinson disease, susceptibility to}, 168600 ADIPOQ Adiponectin deficiency, 612556 ADK Hypermethioninemia due to adenosine kinase deficiency, 614300 ADNP Helsmoortel-van der Aa syndrome, 615873 ADRA2C {Congestive heart failure and beta-blocker response, modifier of} ADRB1 {Congestive heart failure and beta-blocker response, modifier of} ADRB2 {Obesity, susceptibility to}, 601665 ADRB2 Beta-2-adrenoreceptor agonist, reduced response to ADRB3 {Obesity, susceptibility to}, 601665 ADSL Adenylosuccinase deficiency, 103050 AF10 Leukemia, acute myeloid, 601626 AF10 Leukemia, acute T-cell lymphoblastic AFA1 Alopecia, androgenetic, 1 AFF2 Mental retardation, X-linked, FRAXE type, 309548 AFF4 CHOPS syndrome, 616368 AFG3L2 Ataxia, spastic, 5, autosomal recessive, 614487 AFG3L2 Spinocerebellar ataxia 28, 610246 AFP Alpha-fetoprotein deficiency, 615969 AGA Aspartylglucosaminuria, 208400 AGA2 Alopecia, androgenetic, 2 AGA3 Alopecia, androgenetic, 3 AGBL1 Corneal dystrophy, Fuchs endothelial, 8, 615523 AGK Cataract 38, autosomal recessive, 614691 AGK Sengers syndrome, 212350 AGL Glycogen storage disease IIIa, 232400 AGL Glycogen storage disease IIIb, 232400 AGMX2 Agammaglobulinemia, X-linked 2 AGPAT2 Lipodystrophy, congenital generalized, type 1, 608594 AGPS Rhizomelic chondrodysplasia punctata, type 3, 600121 AGRN Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 AGRP {Obesity, late-onset}, 601665 AGSPX Angio serpiginosum AGT {Hypertension, essential, susceptibility to}, 145500 AGT {Preeclampsia, susceptibility to} AGT Renal tubular dysgenesis, 267430 AGTR1 {Hypertension, essential}, 145500 AGTR1 Renal tubular dysgenesis, 267430 AGXT Hyperoxaluria, primary, type 1, 259900 AHCY Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 AHDC1 Xia-Gibbs syndrome, 615829 AHI1 Joubert syndrome-3, 608629 AIC Aicardi syndrome AICDA Immunodeficiency with hyper-IgM, type 2, 605258 AIFM1 Combined oxidative phosphorylation deficiency 6, 300816 AIFM1 Cowchock syndrome, 310490 AIMP1 Leukodystrophy, hypomyelinating, 3, 260600 AIP Pituitary adenoma, ACTH-secreting, 219090 AIP Pituitary adenoma, growth hormone-secreting, 102200 AIP Pituitary adenoma, prolactin-secreting, 600634 AIPL1 Cone-rod dystrophy, 604393 AIPL1 Leber congenital amaurosis 4, 604393 AIPL1 Retinitis pigmentosa, juvenile, 604393 AIR Acute insulin response AIRE Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 AK1 Hemolytic anemia due to adenylate kinase deficiency, 612631 AK2 Reticular dysgenesis, 267500 AKAP9 Long QT syndrome-11, 611820 AKR1C2 46XY sex reversal 8, 614279 AKR1C2 Obesity, hyperphagia, and developmental delay AKR1D1 Bile acid synthesis defect, congenital, 2, 235555 AKT1 {Schizophrenia, susceptibility to}, 181500 AKT1 Breast cancer, somatic, 114480 AKT1 Colorectal cancer, somatic, 114500 AKT1 Cowden syndrome 6, 615109 AKT1 Ovarian cancer, somatic, 167000 AKT1 Proteus syndrome, somatic, 176920 AKT2 Diabetes mellitus, type II, 125853 AKT2 Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 AKT3 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937 ALAD {Lead poisoning, susceptibility to}, 612740 ALAD Porphyria, acute hepatic, 612740 ALAS2 Anemia, sideroblastic, X-linked, 300751 ALAS2 Protoporphyria, erythropoietic, X-linked, 300752 ALB Analbuminemia, 616000 ALDH18A1 Cutis laxa, autosomal recessive, type IIIA, 219150 ALDH1A3 Microphthalmia, isolated 8, 615113 ALDH2 {Hangover, susceptibility to}, 610251 ALDH2 {Sublingual nitroglycerin, susceptibility to poor response to} ALDH2 Alcohol sensitivity, acute, 610251 ALDH3A2 Sjogren-Larsson syndrome, 270200 ALDH4A1 Hyperprolinemia, type II, 239510 ALDH5A1 Succinic semialdehyde dehydrogenase deficiency, 271980 ALDH6A1 Methylmalonate semialdehyde dehydrogenase deficiency, 614105 ALDH7A1 Epilepsy, pyridoxine-dependent, 266100 ALDOA Glycogen storage disease XII, 611881 ALDOB Fructose intolerance, 229600 ALG1 Congenital disorder of glycosylation, type Ik, 608540 ALG10 {Long QT syndrome, acquired, reduced susceptibility to}, 613688 ALG11 Congenital disorder of glycosylation, type Ip, 613661 ALG12 Congenital disorder of glycosylation, type Ig, 607143 ALG13 Congenital disorder of glycosylation, type Is, 300884 ALG2 Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 ALG3 Congenital disorder of glycosylation, type Id, 601110 ALG6 Congenital disorder of glycosylation, type Ic, 603147 ALG8 Congenital disorder of glycosylation, type Ih, 608104 ALG9 Congenital disorder of glycosylation, type Il, 608776 ALK {Neuroblastoma, susceptibility to, 3}, 613014 ALL1 {Leukemia, acute lymphocytic, susceptibility to, 1} ALL2 {Leukemia, acute lymphoblastic, susceptibility to, 2} ALMS1 Alstrom syndrome, 203800 ALOX12B Ichthyosis, congenital, autosomal recessive 2, 242100 ALOX5AP {Stroke, susceptibility to}, 601367 ALOXE3 Ichthyosis, congenital, autosomal recessive 3, 606545 ALPL Hypophosphatasia, adult, 146300 ALPL Hypophosphatasia, childhood, 241510 ALPL Hypophosphatasia, infantile, 241500 ALPL Odontohypophosphatasia, 146300 ALS2 Amyotrophic lateral sclerosis 2, juvenile, 205100 ALS2 Primary lateral sclerosis, juvenile, 606353 ALS2 Spastic paralysis, infantile onset ascending, 607225 ALS3 Amyotrophic lateral sclerosis 3 ALS5 Amyotrophic lateral sclerosis 5, juvenile recessive ALS7 Amyotrophic lateral sclerosis 7 ALX3 Frontonasal dysplasia 1, 136760 ALX4 {Craniosynostosis 5, susceptibility to}, 615529 ALX4 Frontonasal dysplasia 2, 613451 ALX4 Parietal foramina 2, 609597 AMACR Alpha-methylacyl-CoA racemase deficiency, 614307 AMACR Bile acid synthesis defect, congenital, 4, 214950 AMBN Amelogenesis imperfecta, type IF, 616270 AMCN Arthrogryposis multiplex congenita, neurogenic AMELX Amelogenesis imperfecta, type 1E, 301200 AMER1 Osteopathia striata with cranial sclerosis, 300373 AMH Persistent Mullerian duct syndrome, type I, 261550 AMHR2 Persistent Mullerian duct syndrome, type II, 261550 AMMEC Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis AMN Megaloblastic anemia-1, Norwegian type, 261100 AMPD1 Myopathy due to myoadenylate deaminase deficiency, 615511 AMPD2 Pontocerebellar hypoplasia, type 9, 615809 AMT Glycine encephalopathy, 605899 ANBC Aneurysmal bone cysts ANG Amyotrophic lateral sclerosis 9, 611895 ANGPTL3 Hypobetalipoproteinemia, familial, 2, 605019 ANGPTL4 Plasma triglyceride level QTL, low, 615881 ANIB1 Aneurysm, intracranial berry, 1 ANIB11 Aneurysm, intracranial berry, 11 ANIB2 Aneurysm, intracranial berry, 2 ANIB3 Aneurysm, intracranial berry, 3 ANIB4 Aneurysm, intracranial berry, 4 ANIB5 Aneurysm, intracranial berry, 5 ANIB7 Aneurysm, intracranial berry, 7 ANIB8 Aneurysm, intracranial berry, 8 ANIC Anosmia, isolated congenital ANK1 Spherocytosis, type 1, 182900 ANK2 Cardiac arrhythmia, ankyrin-B-related, 600919 ANK2 Long QT syndrome 4, 600919 ANKH Chondrocalcinosis 2, 118600 ANKH Craniometaphyseal dysplasia, 123000 ANKK1 Dopamine receptor D2, reduced brain density of ANKRD11 KBG syndrome, 148050 ANKRD26 Thrombocytopenia 2, 188000 ANKS6 Nephronophthisis 16, 615382 ANLN Focal segmental glomerulosclerosis 8, 616032 ANMA Anisomastia ANO10 Spinocerebellar ataxia, autosomal recessive 10, 613728 ANO3 Dystonia 24, 615034 ANO5 Gnathodiaphyseal dysplasia, 166260 ANO5 Miyoshi muscular dystrophy 3, 613319 ANO5 Muscular dystrophy, limb-girdle, type 2L, 611307 ANO6 Scott syndrome, 262890 ANTXR1 {Hemangioma, capillary infantile, susceptibility to}, 602089 ANTXR1 GAPO syndrome, 230740 ANTXR2 Hyaline fibromatosis syndrome, 228600 ANXA5 {Pregnancy loss, recurrent, susceptibility to, 3}, 614391 AOCH Acromegaloid features, overgrowth, cleft palate, and hernia AOMS1 Abdominal obesity-metabolic syndrome 1 AOMS2 Abdominal obesity-metabolic syndrome AP1S1 MEDNIK syndrome, 609313 AP1S2 Mental retardation, X-linked syndromic 5, 304340 AP1S3 {Psoriasis 15, pustular, susceptibility to}, 616106 AP2S1 Hypocalciuric hypercalcemia, familial, type III, 600740 AP3B1 Hermansky-Pudlak syndrome 2, 608233 AP4B1 Spastic paraplegia 47, autosomal recessive, 614066 AP4E1 Spastic paraplegia 51, autosomal recessive, 613744 AP4M1 Spastic paraplegia 50, autosomal recessive, 612936 AP4S1 Spastic paraplegia 52, autosomal recessive, 614067 AP5Z1 Spastic paraplegia 48, autosomal recessive, 613647 APC Adenoma, periampullary, somatic APC Adenomatous polyposis coli, 175100 APC Brain tumor-polyposis syndrome 2, 175100 APC Colorectal cancer, somatic, 114500 APC Desmoid disease, hereditary, 135290 APC Gardner syndrome, 175100 APC Gastric cancer, somatic, 613659 APC Hepatoblastoma, somatic, 114550 APCDD1 Hypotrichosis 1, 605389 APMR1 Alopecia-mental retardation syndrome 1 APMR2 Alopecia-mental retardation syndrome 2 APMR3 Alopecia-mental retardation syndrome 3 APOA1 Amyloidosis, 3 or more types, 105200 APOA1 ApoA-I and apoC-III deficiency, combined APOA1 Corneal clouding, autosomal recessive APOA1 Hypoalphalipoproteinemia, 604091 APOA2 {Hypercholesterolemia, familial, modifier of}, 143890 APOA2 Apolipoprotein A-II deficiency APOA5 {Hypertriglyceridemia, susceptibility to}, 145750 APOA5 Hyperchylomicronemia, late-onset, 144650 APOB Hypercholesterolemia, due to ligand-defective apo B, 144010 APOB Hypobetalipoproteinemia, 615558 APOC2 Hyperlipoproteinemia, type Ib, 207750 APOC3 Apolipoprotein C-III deficiency, 614028 APOE {Myocardial infarction susceptibility} APOE Alzheimer disease-2, 104310 APOE Hyperlipoproteinemia, type III APOE Lipoprotein glomerulopathy, 611771 APOE Sea-blue histiocyte disease, 269600 APOL1 {Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 APOL2 {Schizophrenia}, 181500 APOL4 {Schizophrenia}, 181500 APOPT1 Mitochondrial complex IV deficiency, 220110 APP Alzheimer disease 1, familial, 104300 APP Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, 605714 APRT Adenine phosphoribosyltransferase deficiency, 614723 APTX Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 AQP2 Diabetes insipidus, nephrogenic, 125800 AQP5 Palmoplantar keratoderma, Bothnian type, 600231 AR {Prostate cancer, susceptibility to}, 176807 AR Androgen insensitivity, 300068 AR Androgen insensitivity, partial, with or without breast cancer, 312300 AR Hypospadias 1, X-linked, 300633 AR Spinal and bulbar muscular atrophy of Kennedy, 313200 ARCI7 Ichthyosis, congenital, autosomal recessive 7, 615022 ARFGEF2 Periventricular heterotopia with microcephaly, 608097 ARG1 Argininemia, 207800 ARHGAP26 Leukemia, juvenile myelomonocytic, 607785 ARHGAP31 Adams-Oliver syndrome 1, 100300 ARHGDIA Nephrotic syndrome, type 8, 615244 ARHGEF12 Leukemia, acute myeloid, 601626 ARHGEF6 Mental retardation, X-linked 46, 300436 ARHGEF9 Epileptic encephalopathy, early infantile, 8, 300607 ARID1A Mental retardation, autosomal dominant 14, 614607 ARID1B Mental retardation, autosomal dominant 12, 614562 ARL13B Joubert syndrome 8, 612291 ARL2BP Retinitis pigmentosa with or without situs inversus, 615434 ARL6 {Bardet-Biedl syndrome 1, modifier of}, 209900 ARL6 Bardet-Biedl syndrome 3, 600151 ARMC4 Ciliary dyskinesia, primary, 23, 615451 ARMC5 ACTH-independent macronodular adrenal hyperplasia 2, 615954 ARNT Leukemia, acute myeloblastic ARSA Metachromatic leukodystrophy, 250100 ARSB Mucopolysaccharidosis type VI ARSE Chondrodysplasia punctata, X-linked recessive, 302950 ARVD3 Arrhythmogenic right ventricular dysplasia 3 ARVD4 Arrhythmogenic right ventricular dysplasia 4 ARVD6 Arrhythmogenic right ventricular dysplasia 6 ARX Epileptic encephalopathy, early infantile, 1, 308350 ARX Hydranencephaly with abnormal genitalia, 300215 ARX Lissencephaly, X-linked 2, 300215 ARX Mental retardation, X-linked 29 and others, 300419 ARX Partington syndrome, 309510 ARX Proud syndrome, 300004 ASAH1 Farber lipogranulomatosis, 228000 ASAH1 Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 ASB10 Glaucoma 1, open angle, F, 603383 ASCC1 Barrett esophagus/esophageal adenocarcinoma, 614266 ASCL1 Central hypoventilation syndrome, congenital, 209880 ASCL1 Haddad syndrome, 209880 ASD1 Atrial septal defect 1 ASL Argininosuccinic aciduria, 207900 ASNS Asparagine synthetase deficiency, 615574 ASPA Canavan disease, 271900 ASPH Traboulsi syndrome, 601552 ASPM Microcephaly 5, primary, autosomal recessive, 608716 ASPN {Lumbar disc degeneration}, 603932 ASPN {Osteoarthritis susceptibility 3}, 607850 ASPSCR1 Alveolar soft-part sarcoma, 606243 ASS1 Citrullinemia, 215700 ASXL1 Bohring-Opitz syndrome, 605039 ASXL1 Myelodysplastic syndrome, somatic, 614286 ASXL3 Bainbridge-Ropers syndrome, 615485 ATCAY Ataxia, cerebellar, Cayman type, 601238 ATFB1 Atrial fibrillation, familial, 1 ATFB2 Atrial fibrillation, familial, 2 ATFB8 Atrial fibrillation, familial, 8 ATG16L1 {Inflammatory bowel disease 10}, 611081 ATIC AICA-ribosiduria due to ATIC deficiency, 608688 ATL1 Neuropathy, hereditary sensory, type ID, 613708 ATL1 Spastic paraplegia 3A, autosomal dominant, 182600 ATL3 Neuropathy, hereditary sensory, type IF, 615632 ATM {Breast cancer, susceptibility to}, 114480 ATM Ataxia-telangiectasia, 208900 ATM Lymphoma, B-cell non-Hodgkin, somatic ATM Lymphoma, mantle cell ATM T-cell prolymphocytic leukemia, somatic ATN1 Dentatorubro-pallidoluysian atrophy, 125370 ATOD1 {Dermatitis, atopic, susceptibility to, 1} ATOD8 Dermatitis, atopic, 8 ATOD9 Dermatitis, atopic, 9 ATOH7 Persistent hyperplastic primary vitreous, autosomal recessive, 221900 ATP13A2 Kufor-Rakeb syndrome, 606693 ATP1A2 Alternating hemiplegia of childhood, 104290 ATP1A2 Migraine, familial basilar, 602481 ATP1A2 Migraine, familial hemiplegic, 2, 602481 ATP1A3 Alternating hemiplegia of childhood 2, 614820 ATP1A3 CAPOS syndrome, 601338 ATP1A3 Dystonia-12, 128235 ATP2A1 Brody myopathy, 601003 ATP2A2 Acrokeratosis verruciformis, 101900 ATP2A2 Darier disease, 124200 ATP2B2 {Deafness, autosomal recessive 12, modifier of}, 601386 ATP2C1 Hailey-Hailey disease, 169600 ATP6B1 Renal tubular acidosis with deafness, 267300 ATP6V0A2 Cutis laxa, autosomal recessive, type IIA, 219200 ATP6V0A2 Wrinkly skin syndrome, 278250 ATP6V0A4 Renal tubular acidosis, distal, autosomal recessive, 602722 ATP7A Menkes disease, 309400 ATP7A Occipital horn syndrome, 304150 ATP7A Spinal muscular atrophy, distal, X-linked 3, 300489 ATP7B Wilson disease, 277900 ATP8B1 Cholestasis, benign recurrent intrahepatic, 243300 ATP8B1 Cholestasis, intrahepatic, of pregnancy, 1, 147480 ATP8B1 Cholestasis, progressive familial intrahepatic 1, 211600 ATPAF2 Mitochondrial complex V ATR Cutaneous telangiectasia and cancer syndrome, familial, 614564 ATR Seckel syndrome 1, 210600 ATRX Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 ATRX Alpha-thalassemia/mental retardation syndrome, 301040 ATRX Mental retardation-hypotonic facies syndrome, X-linked, 309580 ATXN1 Spinocerebellar ataxia 1, 164400 ATXN10 Spinocerebellar ataxia 10, 603516 ATXN2 {Parkinson disease, late-onset, susceptibility to}, 168600 ATXN2 Spinocerebellar ataxia 2, 183090 ATXN3 Machado-Joseph disease, 109150 ATXN7 Spinocerebellar ataxia 7, 164500 ATXN8 Spinocerebellar ataxia 8, 608768 ATXN8OS Spinocerebellar ataxia 8, 608768 AUH 3-methylglutaconic aciduria, type I, 250950 AURKA {Colon cancer, susceptibility to}, 114500 AUTS9 {Autism, susceptibility to, 9} AVP Diabetes insipidus, neurohypophyseal, 125700 AVPR2 Diabetes insipidus, nephrogenic, 304800 AVPR2 Nephrogenic syndrome of inappropriate antidiuresis, 300539 AXIN1 Hepatocellular carcinoma, somatic, 114550 AXIN2 Colorectal cancer, somatic, 114500 AXIN2 Oligodontia-colorectal cancer syndrome, 608615 B2M Hypoproteinemia, hypercatabolic, 241600 B3GALNT2 Muscular dystrophy-dystroglycanopathy B3GALT6 Ehlers-Danlos syndrome, progeroid type, 2, 615349 B3GALT6 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 B3GALTL Peters-plus syndrome, 261540 B3GAT3 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 B3GNT1 Muscular dystrophy-dystroglycanopathy B4GALNT1 Spastic paraplegia 26, autosomal recessive, 609195 B4GALT1 Congenital disorder of glycosylation, type IId, 607091 B4GALT7 Ehlers-Danlos syndrome, progeroid type, 1, 130070 B6QTL1 {Vitamin B6 plasma level QTL 1} B9D2 Meckel syndrome 10, 614175 BAAT Hypercholanemia, familial, 607748 BAG3 Cardiomyopathy, dilated, 1HH, 613881 BAG3 Myopathy, myofibrillar, 6, 612954 BANF1 Nestor-Guillermo progeria syndrome, 614008 BANK1 {Systemic lupus erythematosus, association with}, 152700 BAP1 Tumor predisposition syndrome, 614327 BARD1 {Breast cancer, susceptibility to}, 114480 BAX Colorectal cancer, somatic, 114500 BAX T-cell acute lymphoblastic leukemia, somatic, 613065 BBS1 Bardet-Biedl syndrome 1, 209900 BBS10 Bardet-Biedl syndrome 10, 615987 BBS12 Bardet-Biedl syndrome 12, 615989 BBS2 Bardet-Biedl syndrome 2, 615981 BBS4 Bardet-Biedl syndrome 4, 615982 BBS5 Bardet-Biedl syndrome 5, 615983 BBS7 Bardet-Biedl syndrome 7, 615984 BCAP31 Deafness, dystonia, and cerebral hypomyelination, 300475 BCHE Apnea, postanesthetic BCKDHA Maple syrup urine disease, type Ia, 248600 BCKDHB Maple syrup urine disease, type Ib, 248600 BCKDK Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 BCL10 {Lymphoma, follicular, somatic}, 613024 BCL10 {Male germ cell tumor, somatic}, 273300, BCL10 {Mesothelioma, somatic}, 156240 BCL10 {Sezary syndrome, somatic}, BCL10 Lymphoma, MALT, somatic, 137245 BCL2 Leukemia/lymphoma, B-cell, 2 BCL3 Leukemia/lymphoma, B-cell, 3 BCL6 Lymphoma, B-cell BCL7A B-cell non-Hodgkin lymphoma, high-grade BCMO1 Hypercarotenemia and vitamin A deficiency, autosomal dominant, 115300 BCOR Microphthalmia, syndromic 2, 300166 BCPR Breast cancer BCR Leukemia, acute lymphocytic, 613065 BCR Leukemia, chronic myeloid, 608232 BCS1L Bjornstad syndrome, 262000 BCS1L GRACILE syndrome, 603358 BCS1L Leigh syndrome, 256000 BCS1L Mitochondrial complex III deficiency, nuclear type 1, 124000 BDA1B Brachydactyly, type A1, B BDET Bleeding disorder, east Texas type BDNF {Memory impairment, susceptibility to} BDNF {Obsessive-compulsive disorder, protection against}, 164230 BDNF Central hypoventilation syndrome, congenital, 209880 BEAN Spinocerebellar ataxia 31, 117210 BED Bornholm eye disease BEST1 Bestrophinopathy, autosomal recessive, 611809 BEST1 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 BEST1 Retinitis pigmentosa, concentric, 613194 BEST1 Retinitis pigmentosa-50, 613194 BEST1 Vitelliform macular dystrophy 2, 153700 BEST1 Vitreoretinochoroidopathy, 193220 BFIS1 Seizures, benign familial infantile, 1 BFIS4 Seizures, benign familial infantile, 4 BFSP1 Cataract 33, 611391 BFSP2 Cataract 12, multiple types, 611597 BHD Hip dysplasia, Beukes type BHLHA9 Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 BICC1 {Renal dysplasia, cystic, susceptibility to}, 601331 BICD2 Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 BIN1 Myopathy, centronuclear, autosomal recessive, 255200 BLK Maturity-onset diabetes of the young, type 11, 613375 BLNK Agammaglobulinemia 4, 613502 BLOC1S3 Hermansky-Pudlak syndrome 8, 614077 BLOC1S6 Hermansky-pudlak syndrome 9, 614171 BLVRA Hyperbiliverdinemia, 614156 BMIQ16 Chromosome 16p11.2 deletion syndrome, 220kb BMIQ7 {Obesity, susceptibility to, BMIQ7} BMIQ8 {Obesity, susceptibility to, BMIQ8} BMND7 {Osteoporosis}, 166710 BMND8 {Osteoporosis}, 166710 BMP1 Osteogenesis imperfecta, type XIII, 614856 BMP15 Ovarian dysgenesis 2, 300510 BMP15 Premature ovarian failure 4, 300510 BMP2 {HFE hemochromatosis, modifier of}, 235200 BMP2 Brachydactyly, type A2, 112600 BMP4 Microphthalmia, syndromic 6, 607932 BMP4 Orofacial cleft 11, 600625 BMPER Diaphanospondylodysostosis, 608022 BMPR1A Juvenile polyposis syndrome, infantile form, 174900 BMPR1A Polyposis syndrome, hereditary mixed, 2, 610069 BMPR1A Polyposis, juvenile intestinal, 174900 BMPR1B Brachydactyly, type A2, 112600 BMPR1B Chrondrodysplasia, acromesomelic, with genital anomalies, 609441 BMPR2 Pulmonary hypertension, familial primary, 1, with or without HHT, 178600 BMPR2 Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600 BMPR2 Pulmonary venoocclusive disease 1, 265450 BOLA3 Multiple mitochondrial dysfunctions syndrome 2, 614299 BOP Polymicrogyria, bilateral occipital BOS2 Branchiootic syndrome 2 BPGM Erythrocytosis due to bisphosphoglycerate mutase deficiency, 222800 BPP Polymicrogyria, bilateral perisylvian BPPV Vestibulopathy, familial BRAF Adenocarcinoma of lung, somatic, 211980 BRAF Cardiofaciocutaneous syndrome, 115150 BRAF Colorectal cancer, somatic BRAF LEOPARD syndrome 3, 613707 BRAF Melanoma, malignant, somatic BRAF Nonsmall cell lung cancer, somatic BRAF Noonan syndrome 7, 613706 BRAT1 Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 BRCA1 {Breast-ovarian cancer, familial, 1}, 604370 BRCA1 {Pancreatic cancer, susceptibility to, 4}, 614320 BRCA2 {Breast cancer, male, susceptibility to}, 114480 BRCA2 {Breast-ovarian cancer, familial, 2}, 612555 BRCA2 {Glioblastoma 3}, 613029 BRCA2 {Medulloblastoma}, 155255 BRCA2 {Pre-B-cell acute lymphoblastic leukemia} BRCA2 Fanconi anemia, complementation group D1, 605724 BRCA2 Pancreatic cancer, 613347 BRCA2 Prostate cancer, 176807 BRCA2 Wilms tumor, 194070 BRCATA Breast cancer, 11:22 translocation associated BRF1 Cerebellofaciodental syndrome, 616202 BRIP1 Breast cancer, early-onset, 114480 BRIP1 Fanconi anemia, complementation group J, 609054 BRP44L Mitochondrial pyruvate carrier deficiency, 614741 BRV2 Vertigo, benign recurrent, 2 BRWD3 Mental retardation, X-linked 93, 300659 BSCL2 Encephalopathy, progressive, with or without lipodystrophy, 615924 BSCL2 Lipodystrophy, congenital generalized, type 2, 269700 BSCL2 Neuropathy, distal hereditary motor, type VA, 600794 BSCL2 Silver spastic paraplegia syndrome, 270685 BSND Bartter syndrome, type 4a, 602522 BSND Sensorineural deafness with mild renal dysfunction, 602522 BTD Biotinidase deficiency, 253260 BTK Agammaglobulinemia and isolated hormone deficiency, 307200 BTK Agammaglobulinemia, X-linked 1, 300755 BTNL2 {Sarcoidosis, susceptibility to, 2}, 612387 BUB1 Colorectal cancer with chromosomal instability, somatic BUB1B Colorectal cancer, somatic, 114500 BUB1B Mosaic variegated aneuploidy syndrome 1, 257300 BZX Bazex syndrome C10orf11 Albinism, oculocutaneous, type VII, 615179 C10orf2 Mitochondrial DNA depletion syndrome 7 C10orf2 Perrault syndrome 5, 616138 C10orf2 Progressive external ophthalmoplegia, autosomal dominant, 3, 609286 C12orf57 Temtamy syndrome, 218340 C12orf65 Combined oxidative phosphorylation deficiency 7, 613559 C12orf65 Spastic paraplegia 55, autosomal recessive, 615035 C15orf41 Dyserythropoietic anemia, congenital, type Ib, 615631 C16DELq22 Chromosome 16q22 deletion syndrome C16orf57 Poikiloderma with neutropenia, 604173 C19orf12 Neurodegeneration with brain iron accumulation 4, 614298 C1GALT1C1 Tn polyagglutination syndrome, somatic, 300622 C1NH Angioedema, hereditary, types I and II, 106100 C1NH Complement component 4, partial deficiency of, 120790 C1QA C1q deficiency, 613652 C1QB C1q deficiency, 613652 C1QC C1q deficiency, 613652 C1QTNF5 Retinal degeneration, late-onset, autosomal dominant, 605670 C1R C1r/C1s deficiency, combined, 216950 C1S C1s deficiency, 613783 C2 {Macular degeneration, age-related, 14, reduced risk of}, 615489 C2 C2 deficiency, 217000 C21ORF59 Ciliary dyskinesia, primary, 26, 615500 C2orf25 Homocystinuria, cblD type, variant 1, 277410 C2orf25 Methylmalonic aciduria and homocystinuria, cblD type, 277410 C2orf25 Methylmalonic aciduria, cblD type, variant 2, 277410 C2orf71 Retinitis pigmentosa 54, 613428 C3 {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 C3 {Macular degeneration, age-related, 9}, 611378 C3 C3 deficiency, 613779 C4A C4a deficiency, 614380 C4B C4B deficiency, 614379 C4orf26 Amelogenesis imperfecta, type IIA4, 614832 C5 C5 deficiency, 609536 C5orf42 Joubert syndrome 17, 614615 C5orf42 Orofaciodigital syndrome VI, 277170 C6 C6 deficiency, 612446 C6 Combined C6/C7 deficiency C7 C7 deficiency, 610102 C7orf22 Cerebral cavernous malformations-2, 603284 C8A C8 deficiency, type I, 613790 C8B C8 deficiency, type II, 613789 C8orf37 Cone-rod dystrophy 16, 614500 C8orf37 Retinitis pigmentosa 64, 614500 C9 {Macular degeneration, age-related, 15, susceptibility to}, 615591 C9 C9 deficiency, 613825 C9orf72 Amyotrophic lateral sclerosis and/or frontotemporal dementia, 105550 CA12 Hyperchlorhidrosis, isolated, 143860 CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 CA4 Retinitis pigmentosa 17, 600852 CA5A Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 CA8 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 CAA Aural atresia, congenital CABP2 Deafness, autosomal recessive 93, 614899 CABP4 Night blindness, congenital stationary CACD1 Choroidal dystrophy, central areolar 1 CACNA1A Episodic ataxia, type 2, 108500 CACNA1A Migraine, familial hemiplegic, 1, 141500 CACNA1A Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 CACNA1A Spinocerebellar ataxia 6, 183086 CACNA1C Brugada syndrome 3, 611875 CACNA1C Timothy syndrome, 601005 CACNA1D Primary aldosteronism, seizures, and neurologic abnormalities, 615474 CACNA1D Sinoatrial node dysfunction and deafness, 614896 CACNA1F Aland Island eye disease, 300600 CACNA1F Cone-rod dystropy, X-linked, 3, 300476 CACNA1F Night blindness, congenital stationary CACNA1H {Epilepsy, childhood absence, susceptibility to, 6}, 611942 CACNA1H {Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 CACNA1S {Malignant hyperthermia susceptibility 5}, 601887 CACNA1S {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 CACNA1S Hypokalemic periodic paralysis, type 1, 170400 CACNA2D4 Retinal cone dystrophy 4, 610478 CACNB2 Brugada syndrome 4, 611876 CACNB4 {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682 CACNB4 {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682 CACNB4 Episodic ataxia, type 5, 613855 CACNG2 Mental retardation, autosomal dominant 10, 614256 CALCR {Osteoporosis, postmenopausal, susceptibility}, 166710 CALM1 Long QT syndrome 14, 616247 CALM1 Ventricular tachycardia, catecholaminergic polymorphic, 4, 614916 CALM2 Long QT syndrome 15, 616249 CALR Myelofibrosis, somatic, 254450 CALR Thrombocythemia, somatic, 187950 CALR3 Cardiomyopathy, hypertrophic, 19, 613875 CAMPD1 Camptodactyly 1 CAMTA1 Cerebellar ataxia, nonprogressive, with mental retardation, 614756 CANDF1 Candidiasis, familial, 1, autosomal dominant CANDF3 Candidiasis, familial, 3 CANT1 Desbuquois dysplasia, 251450 CAPN3 Muscular dystrophy, limb-girdle, type 2A, 253600 CAPN5 Vitreoretinopathy, neovascular inflammatory, 193235 CARD11 Immunodeficiency 11, 615206 CARD11 Persistent polyclonal B-cell lymphocytosis, 606445 CARD14 Pityriasis rubra pilaris, 173200 CARD14 Psoriasis 2, 602723 CARD9 Candidiasis, familial, 2, autosomal recessive, 212050 CASC5 Microcephaly 4, primary, autosomal recessive, 604321 CASK FG syndrome 4, 300422 CASK Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 CASK Mental retardation, with or without nystagmus, 300422 CASP10 Autoimmune lymphoproliferative syndrome, type II, 603909 CASP10 Gastric cancer, somatic, 613659 CASP10 Non-Hodgkin lymphoma, somatic, 605027 CASP12 {Sepsis, susceptibility to} CASP8 {Breast cancer, protection against}, 114480 CASP8 {Lung cancer, protection against}, 211980 CASP8 Hepatocellular carcinoma, somatic, 114550 CASQ1 Myopathy, vacuolar, with CASQ1 aggregates, 616231 CASQ2 Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 CASR {Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 CASR Hypercalciuric hypercalcemia CASR Hyperparathyroidism, neonatal, 239200 CASR Hypocalcemia, autosomal dominant, 601198 CASR Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 CASR Hypocalciuric hypercalcemia, type I, 145980 CAST Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 CAT Acatalasemia, 614097 CATSPER1 Spermatogenic failure 7, 612997 CAV1 Pulmonary hypertension, primary, 3, 615343 CAV3 Cardiomyopathy, familial hypertrophic, 192600 CAV3 Creatine phosphokinase, elevated serum, 123320 CAV3 Long QT syndrome 9, 611818 CAV3 Muscular dystrophy, limb-girdle, type IC, 607801 CAV3 Myopathy, distal, Tateyama type, 614321 CAV3 Rippling muscle disease, 606072 CBFB Myeloid leukemia, acute, M4/M4Eo subtype, somatic, 601626 CBG Corticosteroid-binding globulin deficiency, 611489 CBL Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 CBS Homocystinuria, B6-responsive and nonresponsive types, 236200 CBS Thrombosis, hyperhomocysteinemic, 236200 CBX2 46XY sex reversal 5, 613080 CC2D1A Mental retardation, autosomal recessive 3, 608443 CC2D2A COACH syndrome, 216360 CC2D2A Joubert syndrome 9, 612285 CC2D2A Meckel syndrome 6, 612284 CCAL1 Chondrocalcinosis with early-onset osteoarthritis CCBE1 Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 CCCSX Cerebral-cerebellar-coloboma syndrome, X-linked CCDC103 Ciliary dyskinesia, primary, 17, 614679 CCDC11 Heterotaxy, visceral, 6, autosomal recessive, 614779 CCDC111 Myopia 22, autosomal dominant, 615420 CCDC114 Ciliary dyskinesia, primary, 20, 615067 CCDC151 Ciliary dyskinesia, primary, 30, 616037 CCDC28B {Bardet-Biedl syndrome 1, modifier of}, 209900 CCDC39 Ciliary dyskinesia, primary, 14, 613807 CCDC40 Ciliary dyskinesia, primary, 15, 613808 CCDC50 Deafness, autosomal dominant 44, 607453 CCDC6 Thyroid papillary carcinoma, 188550 CCDC65 Ciliary dyskinesia, primary, 27, 615504 CCDC78 Myopathy, centronuclear, 4, 614807 CCDC8 3-M syndrome 3, 614205 CCDC88C Hydrocephalus, nonsyndromic, autosomal recessive, 236600 CCL11 {HIV1, resistance to}, 609423 CCL2 {HIV-1, resistance to}, 609423 CCL2 {Mycobacterium tuberculosis, susceptibility to}, 607948 CCL2 {Spina bifida, susceptibility to}, 182940 CCL3 {HIV infection, resistance to}, 609423 CCL3L1 {HIV/AIDS, susceptibility to}, 609423 CCL5 {HIV-1 disease, delayed progression of} CCL5 {HIV-1 disease, rapid progression of} CCM1 Cavernous malformations of CNS and retina, 116860 CCM1 Cerebral cavernous malformations-1, 116860 CCM1 Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 CCND1 {Colorectal cancer, susceptibility to}, 114500 CCND1 {Multiple myeloma, susceptibility to}, 254500 CCND1 {von Hippel-Lindau syndrome, modifier of}, 193300 CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 CCNO Ciliary diskinesia, primary, 29, 615872 CCR5 {Hepatitis C virus, resistance to}, 609532 CCR5 {West nile virus, susceptibility to}, 610379 CCT5 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 CD151 Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 CD19 Immunodeficiency, common variable, 3, 613493 CD209 {Dengue fever, protection against}, 614371 CD209 {HIV type 1, susceptibility to}, 609423 CD209 {Mycobacterium tuberculosis, susceptibility to}, 607948 CD244 {Rheumatoid arthritis, susceptibility to}, 180300 CD2AP Glomerulosclerosis, focal segmental, 3, 607832 CD320 Methylmalonic aciduria due to transcobalamin receptor defect, 613646 CD36 {Malaria, cerebral, reduced risk of}, 611162 CD36 {Malaria, cerebral, susceptibility to}, 611162 CD36 Platelet glycoprotein IV deficiency, 608404 CD3D Immunodeficiency 19, 615617 CD3E Immunodeficiency 18, 615615 CD3E Immunodeficiency 18, SCID variant, 615615 CD3G Immunodeficiency 17, CD3 gamma deficient, 615607 CD4 OKT4 epitope deficiency, 613949 CD40 Immunodeficiency with hyper-IgM, type 3, 606843 CD59 Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 CD79A Agammaglobulinemia 3, 613501 CD79B Agammaglobulinemia 6, 612692 CD81 Immunodeficiency, common variable, 6, 613496 CD82 {Prostate cancer, susceptibility to}, 176807 CD8A CD8 deficiency, familial, 608957 CD96 C syndrome, 211750 CDAGS CDAGS syndrome CDAN1 Dyserythropoietic anemia, congenital, type Ia, 224120 CDAN3 Dyserythropoietic anemia, congenital, type III CDB2 Corneal dystrophy, Thiel-Behnke type CDC6 Meier-Gorlin syndrome 5, 613805 CDH1 {Breast cancer, lobular}, 114480 CDH1 {Prostate cancer, susceptibility to}, 176807 CDH1 Endometrial carcinoma, somatic, 608089 CDH1 Gastric cancer, familial diffuse, with or without cleft lip and/or palate, 137215 CDH1 Ovarian carcinoma, somatic, 167000 CDH15 Mental retardation, autosomal dominant 3, 612580 CDH23 Deafness, autosomal recessive 12, 601386 CDH23 Usher syndrome, type 1D, 601067 CDH23 Usher syndrome, type 1D/F digenic, 601067 CDH3 Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 CDH3 Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 CDHR1 Cone-rod dystrophy 15, 613660 CDHR1 Retinitis pigmentosa 65, 613660 CDK4 {Melanoma, cutaneous malignant, 3}, 609048 CDK5RAP2 Microcephaly 3, primary, autosomal recessive, 604804 CDKAL1 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 CDKL5 Angelman syndrome-like, 105830 CDKL5 Epileptic encephalopathy, early infantile, 2, 300672 CDKN1B Multiple endocrine neoplasia, type IV, 610755 CDKN1C Beckwith-Wiedemann syndrome, 130650 CDKN1C IMAGE syndrome, 614732 CDKN2A {Melanoma, cutaneous malignant, 2}, 155601 CDKN2A Melanoma and neural system tumor syndrome, 155755 CDKN2A Orolaryngeal cancer, multiple, CDKN2A Pancreatic cancer/melanoma syndrome, 606719 CDON Holoprosencephaly 11, 614226 CDSN Hypotrichosis 2, 146520 CDSN Peeling skin syndrome 1, 270300 CDT1 Meier-Gorlin syndrome 4, 613804 CEBPA Leukemia, acute myeloid, somatic, 601626 CEBPE Specific granule deficiency, 245480 CECR Cat eye syndrome CECR1 Polyarteritis nodosa, childhood-onset, 615688 CEL Maturity-onset diabetes of the young, type VIII, 609812 CENPF Ciliary dyskinesia, primary, 31, 616369 CENPJ Microcephaly 6, primary, autosomal recessive, 608393 CENPJ Seckel syndrome 4, 613676 CEP120 Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 CEP152 Microcephaly 9, primary, autosomal recessive, 614852 CEP152 Seckel syndrome 5, 613823 CEP164 Nephronophthisis 15, 614845 CEP19 Morbid obesity and spermatogenic failure, 615703 CEP290 Joubert syndrome 5, 610188 CEP290 Leber congenital amaurosis 10, 611755 CEP290 Meckel syndrome 4, 611134 CEP290 Senior-Loken syndrome 6, 610189 CEP41 Joubert syndrome 15, 614464 CEP57 Mosaic variegated aneuploidy syndrome 2, 614114 CEP83 Nephronophthisis 18, 615862 CERKL Retinitis pigmentosa 26, 608380 CERS3 Ichthyosis, congenital, autosomal recessive 9, 615023 CES1 Carboxylesterase 1 deficiency CETP Hyperalphalipoproteinemia, 143470 CFB {Hemolytic uremic syndrome, atypical, susceptibility to, 4}, 612924 CFB {Macular degeneration, age-related, 14, reduced risk of}, 615489 CFC1 Double-outlet right ventricle, 217095 CFC1 Heterotaxy, visceral, 2, autosomal, 605376 CFC1 Transposition of the great arteries, dextro-looped 2, 613853 CFD Complement factor D deficiency, 613912 CFEOM3C Fibrosis of extraocular muscles, congenital, 3C CFHR1 {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 CFHR1 {Macular degeneration, age-related, reduced risk of}, 603075 CFHR3 {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 CFHR3 {Macular degeneration, age-related, reduced risk of}, 603075 CFHR5 Nephropathy due to CFHR5 deficiency, 614809 CFI {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923 CFI {Macular degeneration, age-related, 13, susceptibility to}, 615439 CFI Complement factor I deficiency, 610984 CFL2 Nemaline myopathy 7, autosomal recessive, 610687 CFTDX Myopathy, congenital, with fiber-type disproportion, X-linked CFTR {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 CFTR {Hypertrypsinemia, neonatal} CFTR {Pancreatitis, idiopathic}, 167800 CFTR Congenital bilateral absence of vas deferens, 277180 CFTR Cystic fibrosis, 219700 CFTR Sweat chloride elevation without CF CHAT Myasthenic syndrome, congenital, 6, presynaptic, 254210 CHCHD10 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 CHCHD10 Spinal muscular atrophy, Jokela type, 615048 CHD2 Epileptic encephalopathy, childhood-onset, 615369 CHD7 CHARGE syndrome, 214800 CHD7 Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 CHD8 {Autism, susceptibility to, 18}, 615032 CHDT3 Congenital heart defects, multiple types, 3 CHED1 Corneal endothelial dystrophy 1, autosomal dominant CHEK2 {Breast and colorectal cancer, susceptibility to} CHEK2 {Breast cancer, susceptibility to}, 114480 CHEK2 {Prostate cancer, familial, susceptibility to}, 176807 CHEK2 Li-Fraumeni syndrome, 609265 CHEK2 Osteosarcoma, somatic, 259500 CHI3L1 {Schizophrenia, susceptibility to}, 181500 CHIC2 {Leukemia, acute myeloid}, 601626 CHKB Muscular dystrophy, congenital, megaconial type, 602541 CHM Choroideremia, 303100 CHMP1A Pontocerebellar hypoplasia, type 8, 614961 CHMP2B Amyotrophic lateral sclerosis 17, 614696 CHMP2B Dementia, familial, nonspecific, 600795 CHMP4B Cataract 31, multiple types, 605387 CHN1 Duane retraction syndrome 2, 604356 CHNG3 Hypothyroidism, congenital, nongoitrous, 3 CHRDL1 Megalocornea 1, X-linked 309300 CHRNA1 Multiple pterygium syndrome, lethal type, 253290 CHRNA1 Myasthenic syndrome, congenital, 1A, slow-channel, 601462 CHRNA1 Myasthenic syndrome, congenital, 1B, fast-channel, 608930 CHRNA2 Epilepsy, nocturnal frontal lobe, type 4, 610353 CHRNA3 {Lung cancer susceptibility 2}, 612052 CHRNA4 {Nicotine addiction, susceptibility to}, 188890 CHRNA4 Epilepsy, nocturnal frontal lobe, 1, 600513 CHRNA5 {Lung cancer susceptibility 2}, 612052 CHRNA5 {Nicotine dependence, susceptibility to}, 612052 CHRNA7 Schizophrenia, neurophysiologic defect in CHRNB1 Myasthenic syndrome, congenital, 2A, slow-channel, 616313 CHRNB2 Epilepsy, nocturnal frontal lobe, 3, 605375 CHRND Multiple pterygium syndrome, lethal type, 253290 CHRND Myasthenic syndrome, congenital, 3B, fast-channel, 616322 CHRNE Myasthenic syndrome, congenital, 4A, slow-channel, 605809 CHRNE Myasthenic syndrome, congenital, 4B, fast-channel, 616324 CHRNE Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 CHRNG Escobar syndrome, 265000 CHRNG Multiple pterygium syndrome, lethal type, 253290 CHST14 Ehlers-Danlos syndrome, musculocontractural type 1, 601776 CHST3 Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 CHST6 Macular corneal dystrophy, 217800 CHSY1 Temtamy preaxial brachydactyly syndrome, 605282 CHUK Cocoon syndrome, 613630 CHX10 Microphthalmia with coloboma 3, 610092 CHX10 Microphthalmia, isolated 2, 610093 CIB2 Deafness, autosomal recessive 48, 609439 CIB2 Usher syndrome, type IJ, 614869 CILD4 Ciliary dyskinesia, primary, 4 CILD8 Ciliary dyskinesia, primary, 8 CILP {Lumbar disc disease, susceptibility to}, 603932 CIMT Carotid intimal medial thickness CIRH1A Cirrhosis, North American Indian childhood type, 604901 CISD2 Wolfram syndrome 2, 604928 CISH {Malaria, susceptibility to}, 611162 CISH {Tuberculosis, susceptibility to}, 607948 CITED2 Atrial septal defect 8, 614433 CITED2 Ventricular septal defect 2, 614431 CKAP2L Filippi syndrome, 272440 CLCF1 Cold-induced sweating syndrome 2, 610313 CLCN1 Myotonia congenita, dominant, 160800 CLCN1 Myotonia congenita, recessive, 255700 CLCN1 Myotonia levior, recessive CLCN2 {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 CLCN2 {Epilepsy, juvenile absence, susceptibility to, 2}, 607628 CLCN2 {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 CLCN2 Leukoencephalopathy with ataxia, 615651 CLCN5 Dent disease, 300009 CLCN5 Hypophosphatemic rickets, 300554 CLCN5 Nephrolithiasis, type I, 310468 CLCN5 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 CLCN7 Osteopetrosis, autosomal dominant 2, 166600 CLCN7 Osteopetrosis, autosomal recessive 4, 611490 CLCNKA Bartter syndrome, type 4b, digenic, 613090 CLCNKB Bartter syndrome, type 3, 607364 CLCNKB Bartter syndrome, type 4b, digenic, 613090 CLDN1 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 CLDN14 Deafness, autosomal recessive 29, 614035 CLDN16 Hypomagnesemia 3, renal, 248250 CLDN19 Hypomagnesemia 5, renal, with ocular involvement, 248190 CLEC4M SARS infection, protection against CLEC7A Candidiasis, familial, 4, autosomal recessive, 613108 CLMP Congenital short bowel syndrome, 615237 CLN3 Ceroid lipofuscinosis, neuronal, 3, 204200 CLN5 Ceroid lipofuscinosis, neuronal, 5, 256731 CLN6 Ceroid lipofuscinosis, neuronal, 6, 601780 CLN6 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 CLN8 Ceroid lipofuscinosis, neuronal, 8, 600143 CLN8 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003 CLP1 Pontocerebellar hypoplasia, type 10, 615803 CLPB 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 CLPP Perrault syndrome 3, 614129 CLRN1 Retinitis pigmentosa 61, 614180 CLRN1 Usher syndrome, type 3A, 276902 CMD1B Cardiomyopathy, dilated 1B CMD1F Cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D CMD1H Cardiomyopathy, dilated, 1H CMD1K Cardiomyopathy, dilated, 1K CMD1Q Cardiomyopathy, dilated, 1Q CMH21 Cardiomyopathy, hypertrophic, 21 CMS1A1 Myasthenia, familial infantile, 1 CMT2G Charcot-Marie-Tooth disease, axonal, type 2G CMT2H Charcot-Marie-Tooth disease, axonal, type 2H CMTDIA Charcot-Marie-Tooth disease, dominant intermediate A CMTX2 Charcot-Marie-Tooth neuropathy, X-linked recessive, 2 CMTX3 Charcot-Marie-Tooth neuropathy, X-linked recessive, 3 CNC2 Carney complex, type II CND Dermoids of cornea CNGA1 Retinitis pigmentosa 49, 613756 CNGA3 Achromatopsia-2, 216900 CNGB1 Retinitis pigmentosa 45, 613767 CNGB3 Achromatopsia-3, 262300 CNGB3 Macular degeneration, juvenile, 248200 CNNM2 Hypomagnesemia 6, renal, 613882 CNNM4 Jalili syndrome, 217080 CNSN Carnosinemia CNTNAP1 Lethal congenital contracture syndrome 7, 616286 CNTNAP2 {Autism susceptibility 15}, 612100 CNTNAP2 Cortical dysplasia-focal epilepsy syndrome, 610042 CNTNAP2 Pitt-Hopkins like syndrome 1, 610042 COA5 Mitochondrial complex IV deficiency, 220110 COASY Neurodegeneration with brain iron accumulation 6, 615643 COCH Deafness, autosomal dominant 9, 601369 COD2 Cone dystrophy, progressive X-linked, 2 CODA Cavitary optic disc anomalies COG1 Congenital disorder of glycosylation, type IIg, 611209 COG4 Congenital disorder of glycosylation, type IIj, 613489 COG5 Congenital disorder of glycosylation, type IIi, 613612 COG6 Congenital disorder of glycosylation, type IIl, 614576 COG6 Shaheen syndrome, 615328 COG7 Congenital disorder of glycosylation, type IIe, 608779 COG8 Congenital disorder of glycosylation, type IIh, 611182 COL10A1 Metaphyseal chondrodysplasia, Schmid type, 156500 COL11A1 {Lumbar disc herniation, susceptibility to}, 603932 COL11A1 Fibrochondrogenesis 1, 228520 COL11A1 Marshall syndrome, 154780 COL11A1 Stickler syndrome, type II, 604841 COL11A2 Deafness, autosomal dominant 13, 601868 COL11A2 Deafness, autosomal recessive 53, 609706 COL11A2 Fibrochondrogenesis 2, 614524 COL11A2 Otospondylomegaepiphyseal dysplasia, 215150 COL11A2 Stickler syndrome, type III, 184840 COL11A2 Weissenbacher-Zweymuller syndrome, 277610 COL17A1 Epidermolysis bullosa, junctional, non-Herlitz type, 226650 COL18A1 Knobloch syndrome, type 1, 267750 COL1A1 Caffey disease, 114000 COL1A1 Ehlers-Danlos syndrome, classic, 130000 COL1A1 Ehlers-Danlos syndrome, type VIIA, 130060 COL1A1 Osteogenesis imperfecta, type I, 166200 COL1A1 Osteogenesis imperfecta, type II, 166210 COL1A1 Osteogenesis imperfecta, type III, 259420 COL1A1 Osteogenesis imperfecta, type IV, 166220 COL1A2 {Osteoporosis, postmenopausal}, 166710 COL1A2 Ehlers-Danlos syndrome, cardiac valvular form, 225320 COL1A2 Ehlers-Danlos syndrome, type VIIB, 130060 COL1A2 Osteogenesis imperfecta, type II, 166210 COL1A2 Osteogenesis imperfecta, type III, 259420 COL1A2 Osteogenesis imperfecta, type IV, 166220 COL25A1 Fibrosis of extraocular muscles, congenital, 5, 616219 COL2A1 Achondrogenesis, type II or hypochondrogenesis, 200610 COL2A1 Avascular necrosis of the femoral head, 608805 COL2A1 Czech dysplasia, 609162 COL2A1 Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 COL2A1 Kniest dysplasia, 156550 COL2A1 Legg-Calve-Perthes disease, 150600 COL2A1 Osteoarthritis with mild chondrodysplasia, 604864 COL2A1 Otospondylomegaepiphyseal dysplasia, 215150 COL2A1 Platyspondylic skeletal dysplasia, Torrance type, 151210 COL2A1 SED congenita, 183900 COL2A1 SED, Namaqualand type COL2A1 SMED Strudwick type, 184250 COL2A1 Spondyloperipheral dysplasia, 271700 COL2A1 Stickler sydrome, type I, nonsyndromic ocular, 609508 COL2A1 Stickler syndrome, type I, 108300 COL2A1 Vitreoretinopathy with phalangeal epiphyseal dysplasia COL3A1 Ehlers-Danlos syndrome, type III, 130020 COL3A1 Ehlers-Danlos syndrome, type IV, 130050 COL4A1 {Hemorrhage, intracerebral, susceptibility to}, 614519 COL4A1 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 COL4A1 Brain small vessel disease with or without ocular anomalies, 607595 COL4A1 Porencephaly 1, 175780 COL4A2 {Hemorrhage, intracerebral, susceptibility to}, 614519 COL4A2 Porencephaly 2, 614483 COL4A3 Alport syndrome, autosomal dominant, 104200 COL4A3 Alport syndrome, autosomal recessive, 203780 COL4A3 Hematuria, benign familial, 141200 COL4A3BP Mental retardation, autosomal dominant 34, 616351 COL4A4 Alport syndrome, autosomal recessive, 203780 COL4A4 Hematuria, familial benign COL4A5 Alport syndrome, 301050 COL5A1 Ehlers-Danlos syndrome, classic type, 130000 COL5A2 Ehlers-Danlos syndrome, classic type, 130000 COL6A1 Bethlem myopathy, 158810 COL6A1 Ullrich congenital muscular dystrophy, 254090 COL6A2 Bethlem myopathy, 158810 COL6A2 Ullrich congenital muscular dystrophy, 254090 COL6A3 Bethlem myopathy, 158810 COL6A3 Ullrich congenital muscular dystrophy, 254090 COL7A1 EBD inversa, 226600 COL7A1 EBD, Bart type, 132000 COL7A1 EBD, localisata variant COL7A1 Epidermolysis bullosa dystrophica, AD, 131750 COL7A1 Epidermolysis bullosa dystrophica, AR, 226600 COL7A1 Epidermolysis bullosa pruriginosa, 604129 COL7A1 Epidermolysis bullosa, pretibial, 131850 COL7A1 Toenail dystrophy, isolated, 607523 COL7A1 Transient bullous of the newborn, 131705 COL8A2 Corneal dystrophy, Fuchs endothelial, 1, 136800 COL8A2 Corneal dystrophy, posterior polymorphous 2, 609140 COL9A1 Stickler syndrome, type IV, 614134 COL9A2 {Intervertebral disc disease, susceptibility to}, 603932 COL9A2 Epiphyseal dysplasia, multiple, 2, 600204 COL9A3 {Intervertebral disc disease, susceptibility to}, 603932 COL9A3 Epiphyseal dysplasia, multiple, 3, 600969 COL9A3 Epiphyseal dysplasia, multiple, with myopathy COLEC11 3MC syndrome 2, 265050 COLQ Myasthenic syndrome, congenital, 5, 603034 COMA Oculomotor apraxia, congenital, Cogan-type COMP Epiphyseal dysplasia, multiple 1, 132400 COMP Pseudoachondroplasia, 177170 COMT {Panic disorder, susceptibility to}, 167870 COMT {Schizophrenia, susceptibility to}, 181500 COPD Pulmonary disease, chronic obstructive, severe early-onset COQ2 {Multiple system atrophy, susceptibility to}, 146500 COQ2 Coenzyme Q10 deficiency, primary, 1, 607426 COQ4 Coenzyme Q10 deficiency, primary, 7, 616276 COQ6 Coenzyme Q10 deficiency, primary, 6, 614650 COQ9 Coenzyme Q10 deficiency, primary, 5, 614654 CORD1 Cone-rod retinal dystrophy-1 CORD17 Cone-rod dystrophy 17 CORD8 Cone-rod dystrophy 8 CORIN Preeclampsia/eclampsia 5, 614595 CORO1A Immunodeficiency 8, 615401 COX10 Leigh syndrome due to mitochondrial COX4 deficiency, 256000 COX10 Mitochondrial complex IV deficiency, 220110 COX15 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 COX15 Leigh syndrome due to cytochrome c oxidase deficiency, 256000 COX20 Mitochondrial complex IV deficiency, 220110 COX4I2 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 COX6A1 Charcot-Marie-Tooth disease, recessive intermediate D, 616039 COX7B Linear skin defects with multiple congenital anomalies, 300887 CP Cerebellar ataxia, 604290 CP Hemosiderosis, systemic, due to aceruloplasminemia, 604290 CPA6 Epilepsy, familial temporal lobe, 5, 614417 CPA6 Febrile seizures, familial, 11, 614418 CPN1 Carboxypeptidase N deficiency, 212070 CPOX Coproporphyria, 121300 CPOX Harderoporphyria, 121300 CPS1 {Pulmonary hypertension, neonatal, susceptibility to}, 615371 CPS1 {Venoocclusive disease after bone marrow transplantation} CPS1 Carbamoylphosphate synthetase I deficiency, 237300 CPT1A CPT deficiency, hepatic, type IA, 255120 CPT2 {Encephalopathy, acute, infection-induced, 4, susceptibility to}, 614212 CPT2 CPT deficiency, hepatic, type II, 600649 CPT2 CPT II deficiency, lethal neonatal, 608836 CPT2 Myopathy due to CPT II deficiency, 255110 CPVT3 Ventricular tachycardia, catecholaminergic polymorphic, 3 CR1 {Malaria, severe, resistance to}, 611162 CR1 CR1 deficiency CR2 {Systemic lupus erythematosus, susceptibility to, 9}, 610927 CR2 Immunodeficiency, common variable, 7, 614699 CRADD Mental retardation, autosomal recessive 34, 614499 CRB1 Leber congenital amaurosis 8, 613835 CRB1 Pigmented paravenous chorioretinal atrophy, 172870 CRB1 Retinitis pigmentosa-12, autosomal recessive, 600105 CRB2 Focal segmental glomerulosclerosis 9, 616220 CRB2 Ventriculomegaly with cystic kidney disease, 219730 CRBN Mental retardation, autosomal recessive 2, 607417 CRCL Creatinine clearance QTL CREB1 Histiocytoma, angiomatoid fibrous, somatic, 612160 CREBBP Rubinstein-Taybi syndrome, 180849 CRELD1 Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 CRFB4 {Hepatitis B virus, susceptibility to}, 610424 CRFB4 Inflammatory bowel disease 25, early onset, autosomal recessive, 612567 CRIPT Short stature with microcephaly and distinctive facies, 615789 CRLF1 Cold-induced sweating syndrome 1, 272430 CRSA Craniosynostosis, Adelaide type CRTAP Osteogenesis imperfecta, type VII, 610682 CRTC1 Mucoepidermoid salivary gland carcinoma CRX Cone-rod retinal dystrophy-2, 120970 CRX Leber congenital amaurosis 7, 613829 CRYAA Cataract 9, multiple types, 604219 CRYAB Cardiomyopathy, dilated, 1II, 615184 CRYAB Cataract 16, multiple types, 613763 CRYAB Myopathy, myofibrillar, 2, 608810 CRYAB Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related, 613869 CRYBA1 Cataract 10, multiple types, 600881 CRYBA4 Cataract 23, 610425 CRYBB1 Cataract 17, multiple types, 611544 CRYBB2 Cataract 3, multiple types, 601547 CRYBB3 Cataract 22, autosomal recessive, 609741 CRYGB Cataract 39, multiple types, autosomal dominant, 615188 CRYGC Cataract 2, multiple types, 604307 CRYGD Cataract 4, multiple types, 115700 CRYGS Cataract 20, multiple types, 116100 CRYM Deafness, autosomal dominant 40, 616357 CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 CSF2RA Surfactant metabolism dysfunction, pulmonary, 4, 300770 CSF2RB Surfactant metabolism dysfunction, pulmonary, 5, 614370 CSMF Chondrosarcoma, extraskeletal myxoid, 612237 CSNK1D Advanced sleep-phase syndrome, familial, 2, 615224 CSPG6 Cornelia de Lange syndrome 3, 610759 CSPP1 Joubert syndrome 21, 615636 CSRP3 Cardiomyopathy, hypertrophic, 12, 612124 CST3 Cerebral amyloid angiopathy, 105150 CST3 Macular degeneration, age-related, 11, 611953 CSTA Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of Siemens-like, 607936 CSTB Epilepsy, progressive myoclonic 1A CTC1 Cerebroretinal microangiopathy with calcifications and cysts, 612199 CTCF Mental retardation, autosomal dominant 21, 615502 CTDP1 Congenital cataracts, facial dysmorphism, and neuropathy, 604168 CTEPH1 {Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to} CTH Cystathioninuria, 219500 CTH Homocysteine, total plasma, elevated CTHRC1 Barrett esophagus/esophageal adenocarcinoma, 614266 CTLA4 {Celiac disease, susceptibility to, 3}, 609755 CTLA4 {Diabetes mellitus, insulin-dependent, 12}, 601388 CTLA4 {Hashimoto thyroiditis}, 140300 CTLA4 {Systemic lupus erythematosus}, 152700 CTLA4 Autoimmune lymphoproliferative syndrome, type V, 616100 CTNNA3 Arrhythmogenic right ventricular dysplasia, familial, 13, 615616 CTNNB1 Colorectal cancer, somatic, 114500 CTNNB1 Hepatocellular carcinoma, somatic, 114550 CTNNB1 Mental retardation, autosomal dominant 19, 615075 CTNNB1 Ovarian cancer, somatic, 167000 CTNNB1 Pilomatricoma, somatic, 132600 CTNS Cystinosis, atypical nephropathic, 219800 CTNS Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 CTNS Cystinosis, nephropathic, 219800 CTNS Cystinosis, ocular nonnephropathic, 219750 CTPS1 Immunodeficiency 24, 615897 CTRC {Pancreatitis, chronic, susceptibility to}, 167800 CTRCT24 Cataract 24, anterior polar CTRCT25 Cataract 25 CTRCT26 Cataract 26, multiple types CTRCT27 Cataract 27, nuclear progressive CTRCT29 Cataract 29, coralliform CTRCT32 Cataract 32, multiple types CTRCT34 Cataract 34, multiple types CTRCT35 Cataract 35, congenital nuclear CTRCT37 Cataract 37, autosomal dominant CTRCT7 Cataract 7 CTRCT8 Cataract 8, multiple types CTSA Galactosialidosis, 256540 CTSC Haim-Munk syndrome, 245010 CTSC Papillon-Lefevre syndrome, 245000 CTSC Periodontitis 1, juvenile, 170650 CTSD Ceroid lipofuscinosis, neuronal, 10, 610127 CTSF Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 CTSK Pycnodysostosis, 265800 CUBN Megaloblastic anemia-1, Finnish type, 261100 CUL3 Pseudohypoaldosteronism, type IIE, 614496 CUL4B Mental retardation, X-linked, syndromic 15 CUL7 3-M syndrome 1, 273750 CUP2q35 Craniosynostosis, Philadelphia type, 185900 CUP2q35 Syndactyly, type 1 CVMRF Cubitus valgus with mental retardation and unusual facies CX3CR1 {Macular degeneration, age-related, 12}, 613784 CX3CR1 {Rapid progression to AIDS from HIV1 infection}, 609423 CXCR4 Myelokathexis, isolated CXCR4 WHIM syndrome, 193670 CXDUPq26.3 Chromosome Xq26.3 duplication syndrome CYB5A Methemoglobinemia, type IV, 250790 CYB5R3 Methemoglobinemia, type I, 250800 CYB5R3 Methemoglobinemia, type II, 250800 CYBA Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 CYBB Chronic granulomatous disease, X-linked, 306400 CYBB Immunodeficiency 34, mycobacteriosis, X-linked, 300645 CYC1 Mitochondrial complex III deficiency, nuclear type 6, 615453 CYCS Thrombocytopenia 4, 612004 CYLD Brooke-Spiegler syndrome, 605041 CYLD Cylindromatosis, familial, 132700 CYLD Trichoepithelioma, multiple familial, 1, 601606 CYP11A1 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 CYP11B1 Aldosteronism, glucocorticoid-remediable, 103900 CYP11B2 {Low renin hypertension, susceptibility to} CYP11B2 Aldosterone to renin ratio raised CYP11B2 Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 CYP11B2 Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 CYP17A1 17,20-lyase deficiency, isolated, 202110 CYP17A1 17-alpha-hydroxylase/17,20-lyase deficiency, 202110 CYP19A1 Aromatase deficiency, 613546 CYP19A1 Aromatase excess syndrome, 139300 CYP1B1 Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 CYP1B1 Peters anomaly, 604229 CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 CYP21A2 Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 CYP24A1 Hypercalcemia, infantile, 143880 CYP26B1 Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 CYP26C1 Focal facial dermal dysplasia 4, 614974 CYP27A1 Cerebrotendinous xanthomatosis, 213700 CYP27B1 Vitamin D-dependent rickets, type I, 264700 CYP2A6 {Lung cancer, resistance to}, 211980 CYP2A6 {Nicotine addiction, protection from}, 188890 CYP2A6 Coumarin resistance, 122700 CYP2B6 {Efavirenz central nervous system toxicity, susceptibility to}, 614546 CYP2B6 Efavirenz, poor metabolism of, 614546 CYP2C Clopidogrel, impaired responsiveness to, 609535 CYP2C Mephenytoin poor metabolizer, 609535 CYP2C Opremazole poor metabolizer, 609535 CYP2C Proguanil poor metabolizer, 609535 CYP2C8 Rhabdomyolysis, cerivastatin-induced CYP2C9 Tolbutamide poor metabolizer CYP2C9 Warfarin sensitivity, 122700 CYP2D6 {Codeine sensitivity}, 608902 CYP2D6 {Debrisoquine sensitivity}, 608902 CYP2R1 Rickets due to defect in vitamin D 25-hydroxylation, 600081 CYP2U1 Spastic paraplegia 56, autosomal recessive, 615030 CYP3A5 {Hypertension, salt-sensitive essential, susceptibility to}, 145500 CYP4F22 Ichthyosis, congenital, autosomal recessive 5, 604777 CYP4V2 Bietti crystalline corneoretinal dystrophy, 210370 CYP7B1 Bile acid synthesis defect, congenital, 3, 613812 CYP7B1 Spastic paraplegia 5A, autosomal recessive, 270800 D2HGDH D-2-hydroxyglutaric aciduria, 600721 DA10 Arthrogryposis, distal, type 10 DAG1 Muscular dystrophy-dystroglycanopathy DAO {Schizophrenia}, 181500 DAOA {Schizophrenia}, 181500 DARC {Malaria, vivax, protection against}, 611162 DARS Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 DARS2 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 DAX1 46XY sex reversal 2, dosage-sensitive, 300018 DAX1 Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism, 300200 DAZL {Spermatogenic failure, susceptibility to} DBA2 Diamond-Blackfan anemia 2 DBH Dopamine beta-hydroxylase deficiency, 223360 DBT Maple syrup urine disease, type II, 248600 DCAF17 Woodhouse-Sakati syndrome, 241080 DCC Colorectal cancer, somatic, 114500 DCC Esophageal carcinoma, somatic 133239 DCC Mirror movements 1, 157600 DCDC2 Nephronophthisis 19, 616217 DCHS1 Van Maldergem syndrome 1, 601390 DCLRE1C Omenn syndrome, 603554 DCLRE1C Severe combined immunodeficiency, Athabascan type, 602450 DCN Corneal dystrophy, congenital stromal, 610048 DCR Down syndrome DCTN1 Neuropathy, distal hereditary motor, type VIIB, 607641 DCTN1 Perry syndrome, 168605 DCX Lissencephaly, X-linked, 300067 DCX Subcortical laminal heteropia, X-linked, 300067 DDB2 Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 DDC Aromatic L-amino acid decarboxylase deficiency, 608643 DDD3 Dowling-Degos disease 3 DDH1 Developmental dysplasia of the hip 1 DDH2 Developmental dysplasia of the hip 2 DDHD1 Spastic paraplegia 28, autosomal recessive, 609340 DDHD2 Spastic paraplegia 54, autosomal recessive, 615033 DDIT3 Myxoid liposarcoma, 613488 DDR2 Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 DDX11 Warsaw breakage syndrome, 613398 DDX48 Robin sequence with cleft mandible and limb anomalies, 268305 DDX58 Singleton-Merten syndrome 2, 616298 DDX59 Orofaciodigital syndrome V, 174300 DEAF1 Mental retardation, autosomal dominant 24, 615828 DEC1 Esophageal squamous cell carcinoma, 133239 DEK Leukemia, acute nonlymphocytic DEL10q23 Chromosome 10q23 deletion syndrome DEL10q26 Chromosome 10q26 deletion syndrome DEL11p13 Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome DEL11p15p14 Chromosome 11p15-p14 deletion syndrome DEL13q14 Chromosome 13q14 deletion syndrome DEL14q11q22 Chromosome 14q11-q22 deletion syndrome DEL15q11.2 Chromosome 15q11.2 deletion syndrome DEL15q13.3 Chromosome 15q13.3 microdeletion syndrome DEL15q15.3 Deafness and male infertility DEL15q24 Chromosome 15q24 deletion syndrome DEL15q25 Chromosome 15q25 deletion syndrome DEL15q26qter Chromosome 15q26-qter deletion syndrome DEL16p11.2 {Autism susceptibility 14A} DEL16p11.2 Chromosome 16p11.2 deletion syndrome, 593kb DEL16p12.1 Chromosome 16p12.1 deletion syndrome, 520kb DEL16p12.1p11.2 Chromosome 16p12.2-p11.2 deletion syndrome DEL16p13.3 Chromosome 16p13.3 deletion syndrome DEL17p13.1 Chromosome 17p13.1 deletion syndrome DEL17q11.2 Chromosome 17q11.2 deletion syndrome, 1.4Mb DEL17q12 Chromosome 17q12 deletion sy
