XB GenePage ID, Gene Symbol, DO ID:DO name(;)
478063, foxh1.2, 0110881:holoprosencephaly 1 
478083, tbx1, 11198:DiGeorge syndrome;12583:velocardiofacial syndrome;6406:double outlet right ventricle;6419:tetralogy of Fallot 
478140, hba1, 0110031:hemoglobin H disease;1099:alpha thalassemia 
478155, c2, 0060295:complement component 2 deficiency;0110026:age related macular degeneration 14 
478164, gata2, 0050908:myelodysplastic syndrome;9119:acute myeloid leukemia 
478183, gdf2, 1270:hereditary hemorrhagic telangiectasia 
478209, fzd4, 0050535:exudative vitreoretinopathy 
478219, suclg1, 0080128:mitochondrial DNA depletion syndrome 9 
478293, rab28, 0111024:cone-rod dystrophy 18 
478354, fgg, 2236:congenital afibrinogenemia 
478382, pygl, 2754:glycogen storage disease VI 
478436, mapk8ip1, 9352:type 2 diabetes mellitus 
478451, crx, 0111005:cone-rod dystrophy 2;10584:retinitis pigmentosa 
478543, foxe1, 0050655:Bamforth-Lazarus syndrome 
478586, tgfbr1, 0060690:autosomal dominant auditory neuropathy 1 
478628, tnni2, 0050646:distal arthrogryposis 
478662, prkcd, 0110119:autoimmune lymphoproliferative syndrome type 3 
478671, irs1, 9352:type 2 diabetes mellitus 
478760, six3, 0110872:holoprosencephaly 2 
478770, fga, 0050636:familial visceral amyloidosis;2236:congenital afibrinogenemia 
478797, polg, 0080119:mitochondrial DNA depletion syndrome 1;0080122:mitochondrial DNA depletion syndrome 4a;1442:Alpers syndrome 
478806, fras1, 0090001:Fraser syndrome 
478812, fzd6, 0080088:nonsyndromic congenital nail disorder 10 
478821, map2k1, 0060233:cardiofaciocutaneous syndrome;0060578:Noonan syndrome 1 
478849, acvr1, 13374:fibrodysplasia ossificans progressiva 
478858, mycn, 0060464:Feingold syndrome 
478868, avp, 12388:neurohypophyseal diabetes insipidus 
478880, c4a, 9074:systemic lupus erythematosus 
478921, foxf1, 13042:persistent fetal circulation syndrome 
478944, odc1, 9256:colorectal cancer 
478952, agtr1, 10825:essential hypertension 
478981, cdhr1, 0111021:cone-rod dystrophy 15 
478991, stat4, 7148:rheumatoid arthritis;9074:systemic lupus erythematosus 
479054, foxc1, 0050786:iridogoniodysgenesis syndrome 
479153, app, 0070028:APP-related cerebral amyloid angiopathy;10652:Alzheimer's disease 
479190, bmp1, 0110342:osteogenesis imperfecta type 13 
479254, fgfr3, 0050331:LADD syndrome;0060703:Muenke Syndrome;0111160:camptodactyly-tall stature-scoliosis-hearing loss syndrome;0111161:Crouzon syndrome-acanthosis nigricans syndrome;0111162:epidermal nevus;11054:urinary bladder cancer;13481:thanatophoric dysplasia;2998:testicular cancer;4362:cervical cancer;4440:seminoma;4480:achondroplasia;5557:testicular germ cell cancer;9256:colorectal cancer 
479278, eya1, 14702:branchiootorenal syndrome 
479288, sufu, 0050902:medulloblastoma;2512:nevoid basal cell carcinoma syndrome 
479298, bmp15, 5426:premature ovarian failure 
479305, ms4a1, 12177:common variable immunodeficiency 
479311, slc12a3l, 0050450:Gitelman syndrome 
479317, notch1, 1712:aortic valve stenosis 
479353, nr0b2, 9970:obesity 
479360, cfb, 0110026:age related macular degeneration 14 
479380, hras, 0050469:Costello syndrome;0111162:epidermal nevus;11054:urinary bladder cancer;3962:follicular thyroid carcinoma 
479388, umod.1, 0060062:familial juvenile hyperuricemic nephropathy 
479394, ttr, 0050638:transthyretin amyloidosis;12169:carpal tunnel syndrome 
479428, ar, 0060161:Kennedy's disease;10283:prostate cancer;10892:hypospadias;4674:androgen insensitivity syndrome 
479537, aicda, 0060758:immunodeficiency with hyper-IgM type 2 
479557, zeb2, 0060485:Mowat-Wilson syndrome 
479642, mybpc3, 0110310:hypertrophic cardiomyopathy 4;0110425:dilated cardiomyopathy 1A 
479666, pou3f4, 0050566:X-linked nonsyndromic deafness;10003:sensorineural hearing loss 
479788, ace, 10652:Alzheimer's disease 
479801, twist1, 14768:Saethre-Chotzen syndrome 
479867, tp63, 0050601:ADULT syndrome;0060330:Rapp-Hodgkin syndrome;0060783:ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3;0090023:split hand-foot malformation 4;0090119:ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 
479917, il10, 635:acquired immunodeficiency syndrome;7148:rheumatoid arthritis 
479924, slc12a1, 0110142:Bartter disease type 1 
479940, tll1, 0110111:atrial heart septal defect 6 
479979, hoxa13, 0060739:hand-foot-genital syndrome 
479989, bmpr2, 14557:primary pulmonary hypertension;5453:pulmonary venoocclusive disease 
480075, foxg1, 1206:Rett syndrome 
480102, mfn2, 0080068:Charcot-Marie-Tooth disease type 6;0110155:Charcot-Marie-Tooth disease type 2A2 
480130, tnf, 6364:migraine 
480137, agt, 10825:essential hypertension 
480185, il6, 0110892:inflammatory bowel disease 1;11476:osteoporosis;676:juvenile rheumatoid arthritis;9352:type 2 diabetes mellitus;9744:type 1 diabetes mellitus 
480191, paxip1, 10652:Alzheimer's disease 
480303, sox10, 0090111:PCWH syndrome;0110953:Waardenburg syndrome type 4A;0110956:Waardenburg syndrome type 2E 
480313, pde6d, 0110991:Joubert syndrome 22 
480319, hspb1, 0110163:Charcot-Marie-Tooth disease axonal type 2F 
480346, actc1, 0110307:hypertrophic cardiomyopathy 1;0110317:hypertrophic cardiomyopathy 11 
480430, zic3, 0050545:visceral heterotaxy 
480458, casp10, 0060060:non-Hodgkin lymphoma;0110115:autoimmune lymphoproliferative syndrome type 2A;10534:stomach cancer 
480505, tf, 0050649:atransferrinemia 
480514, tnnc1, 0110307:hypertrophic cardiomyopathy 1;0110434:dilated cardiomyopathy 1Z 
480550, gnal, 0090055:dystonia 25 
480559, tgfb2, 0050466:Loeys-Dietz syndrome 
480591, foxe3, 0060605:anterior segment mesenchymal dysgenesis;11367:congenital aphakia 
480646, cyp21a2.1, 0050811:congenital adrenal hyperplasia 
480697, nos3, 10591:pre-eclampsia;10652:Alzheimer's disease;10825:essential hypertension;6713:cerebrovascular disease 
480716, six1, 0060232:branchiootic syndrome;0110553:autosomal dominant nonsyndromic deafness 23;14702:branchiootorenal syndrome 
480736, hoxa1, 0050682:Athabaskan brainstem dysgenesis syndrome 
480764, spry4, 0090078:hypogonadotropic hypogonadism 7 with or without anosmia;0090079:hypogonadotropic hypogonadism 17 with or without anosmia 
480835, rara, 0060318:acute promyelocytic leukemia 
480854, apc, 0050424:familial adenomatous polyposis;0050902:medulloblastoma;10534:stomach cancer;684:hepatocellular carcinoma;9256:colorectal cancer 
480892, nr4a2, 14330:Parkinson's disease 
480946, rps6ka3, 3783:Coffin-Lowry syndrome 
480956, igf2r, 684:hepatocellular carcinoma 
480982, fgf8, 0090086:hypogonadotropic hypogonadism 6 with or without anosmia 
481037, gjb1, 0110209:Charcot-Marie-Tooth disease X-linked dominant 1 
481046, stat3.1, 3261:Job's syndrome 
481144, tlr2, 9256:colorectal cancer 
481164, prdx1, 0050715:methylmalonic aciduria and homocystinuria type cblC 
481200, tfap2a, 0050691:branchiooculofacial syndrome 
481256, pdp1, 3649:pyruvate decarboxylase deficiency 
481271, met, 12849:autistic disorder;4465:papillary renal cell carcinoma;684:hepatocellular carcinoma 
481306, smad6, 1712:aortic valve stenosis 
481372, flt3, 9119:acute myeloid leukemia 
481381, foxc2, 0050468:yellow nail syndrome;0050580:hereditary lymphedema 
481400, aqp2, 12387:nephrogenic diabetes insipidus 
481418, gdf1, 6406:double outlet right ventricle;6419:tetralogy of Fallot 
481435, ghr, 13810:familial hypercholesterolemia;9521:Laron syndrome 
481538, f2, 2235:prothrombin deficiency;2452:thrombophilia;6713:cerebrovascular disease 
481587, tnnt1, 0110936:nemaline myopathy 5 
481624, epb41, 2373:hereditary elliptocytosis 
481653, tnfsf11, 0110943:autosomal recessive osteopetrosis 2 
481679, tap2, 0060009:MHC class I deficiency 
481724, a2m, 10652:Alzheimer's disease 
481755, il1b, 10534:stomach cancer 
481783, gdf5, 0050788:proximal symphalangism;0050790:fibular hypoplasia and complex brachydactyly;0050794:multiple synostoses syndrome;0080051:acromesomelic dysplasia, Hunter-Thompson type;0080052:acromesomelic dysplasia, Grebe type;0110965:brachydactyly type A2;0110970:brachydactyly type C 
481793, zfpm2, 3827:congenital diaphragmatic hernia;6419:tetralogy of Fallot 
481809, gli2, 0110873:holoprosencephaly 9 
481819, lrp6, 3393:coronary artery disease 
481828, bmp2, 0110965:brachydactyly type A2;0111029:hemochromatosis type 1 
481848, tnxb, 14757:type III Ehlers-Danlos syndrome 
481879, fgf20, 14330:Parkinson's disease 
481897, amn, 13382:megaloblastic anemia 
481915, psen1, 0110042:Alzheimer's disease 3;11870:Pick's disease;9255:frontotemporal dementia 
481991, smad3, 0050466:Loeys-Dietz syndrome 
482020, runx2, 13994:cleidocranial dysplasia 
482029, mfrp, 0060837:isolated microphthalmia 5;10629:microphthalmia 
482054, dlc1, 9256:colorectal cancer 
482084, slc4a11, 0060649:congenital hereditary endothelial dystrophy of cornea 
482090, myl2, 0110316:hypertrophic cardiomyopathy 10 
482110, pkd2, 0110859:polycystic kidney disease 2 
482117, il4r, 635:acquired immunodeficiency syndrome 
482175, csf3r, 0090120:hereditary neutrophilia 
482184, tubb, 0090136:complex cortical dysplasia with other brain malformations 6 
482192, esr1, 1612:breast cancer;6364:migraine 
482202, tnfrsf11a, 0110946:autosomal recessive osteopetrosis 7;3347:osteosarcoma;5408:Paget's disease of bone 
482237, pax9, 0050591:tooth agenesis 
482276, cdh3, 0110711:congenital hypotrichosis with juvenile macular dystrophy 
482286, avpr2, 12387:nephrogenic diabetes insipidus 
482292, ep300, 1933:Rubinstein-Taybi syndrome;9256:colorectal cancer 
482319, hoxd13, 0050689:brachydactyly-syndactyly syndrome;0060242:synpolydactyly;0110971:brachydactyly type D;0110972:brachydactyly type E1;11193:syndactyly 
482339, il2rg, 0060013:gamma chain deficiency;628:combined T cell and B cell immunodeficiency 
482399, timp3, 0090114:Sorsby's fundus dystrophy 
482418, hnf4a, 0050524:maturity-onset diabetes of the young;0111099:maturity-onset diabetes of the young type 1;9352:type 2 diabetes mellitus 
482454, il17rd, 0090076:hypogonadotropic hypogonadism 18 with or without anosmia;0090078:hypogonadotropic hypogonadism 7 with or without anosmia 
482471, fgfrl1, 0050460:Wolf-Hirschhorn syndrome 
482491, pitx2, 0050786:iridogoniodysgenesis syndrome;0060673:Peters anomaly;0110120:Axenfeld-Rieger syndrome type 1 
482501, mpo, 10652:Alzheimer's disease 
482527, foxo1, 4051:alveolar rhabdomyosarcoma 
482585, igf2, 14681:Silver-Russell syndrome;2154:nephroblastoma;5572:Beckwith-Wiedemann syndrome 
482604, tnnt3, 0050646:distal arthrogryposis 
482613, tnnt2, 0110308:hypertrophic cardiomyopathy 2;0110426:dilated cardiomyopathy 1D;397:restrictive cardiomyopathy 
482653, zic2, 0110878:holoprosencephaly 5 
482663, wnt10b, 0090026:split hand-foot malformation 6 
482739, pax3, 0110948:Waardenburg syndrome type 1;0110949:Waardenburg syndrome type 3;4051:alveolar rhabdomyosarcoma 
482812, atp1b1, 10825:essential hypertension 
482958, ncf2, 3265:chronic granulomatous disease 
482985, fgf23.2, 0050948:autosomal dominant hypophosphatemic rickets;0111063:hyperphosphatemic familial tumoral calcinosis 
483035, ctla4, 0110751:type 1 diabetes mellitus 12;12361:Graves' disease;7997:thyrotoxicosis;9074:systemic lupus erythematosus 
483048, fxyd2, 0060885:renal hypomagnesemia 2 
483057, bmp4, 10629:microphthalmia 
483084, nr3c2, 0060855:autosomal dominant pseudohypoaldosteronism type 1 
483135, pparg, 0050440:familial partial lipodystrophy;3070:malignant glioma;9352:type 2 diabetes mellitus;9970:obesity 
483145, six6, 10629:microphthalmia 
483154, tecta.2, 0110479:autosomal recessive nonsyndromic deafness 21;0110544:autosomal dominant nonsyndromic deafness 12 
483163, runx1, 7148:rheumatoid arthritis;9119:acute myeloid leukemia 
483182, flt4, 0050580:hereditary lymphedema 
483192, hesx1, 0060857:septooptic dysplasia 
483215, fgb, 2236:congenital afibrinogenemia 
483260, il1rapl1, 0050776:non-syndromic X-linked intellectual disability 
483281, cd19, 12177:common variable immunodeficiency 
483323, mstn.1, 0111072:myostatin-related muscle hypertrophy 
483330, pdx1, 0050877:pancreatic agenesis;0060639:permanent neonatal diabetes mellitus;9352:type 2 diabetes mellitus 
483378, ctbp1, 0050460:Wolf-Hirschhorn syndrome 
483408, pkd1, 0110858:polycystic kidney disease 1 
483417, sox11, 0070057:autosomal dominant non-syndromic intellectual disability 27 
483454, bmpr1b, 0110965:brachydactyly type A2 
483464, dhh, 14448:46 XY gonadal dysgenesis 
483509, esrrb, 0110493:autosomal recessive nonsyndromic deafness 35 
483529, csf2rb, 12120:pulmonary alveolar proteinosis 
483563, rab7a, 0110159:Charcot-Marie-Tooth disease type 2B 
483673, fgf14, 0050976:spinocerebellar ataxia type 27 
483683, tek, 0050792:multiple cutaneous and mucosal venous malformations 
483692, pax8, 0070124:congenital nongoitrous hypothryoidism 2 
483702, pomc, 9970:obesity 
483711, jak2, 0060652:familial erythrocytosis 1;2224:essential thrombocythemia;4971:myelofibrosis;8997:polycythemia vera;9119:acute myeloid leukemia 
483739, slc34a2, 12117:pulmonary alveolar microlithiasis 
483759, crb1, 0110358:retinitis pigmentosa 12 
483794, gdnf, 0050771:phaeochromocytoma;0060731:congenital central hypoventilation syndrome 
483869, dvl1, 0060766:autosomal dominant Robinow syndrome 1 
483939, arx, 0050453:lissencephaly;0050709:Ohtahara syndrome;14744:Partington syndrome 
483949, tacc3, 11054:urinary bladder cancer 
483959, kcnj1, 0110143:Bartter disease type 2 
483982, smarca4, 0070046:Coffin-Siris syndrome 4 
484049, nppa, 0050650:familial atrial fibrillation 
484087, pax6, 0060673:Peters anomaly;0110266:cataract 9 multiple types;11975:coloboma of optic nerve;12270:coloboma;12271:aniridia;14515:WAGR syndrome 
484097, wnt4, 14450:46 XX gonadal dysgenesis 
484116, hnf1a, 0050387:nonpapillary renal cell carcinoma;0111102:maturity-onset diabetes of the young type 3;9352:type 2 diabetes mellitus;9744:type 1 diabetes mellitus 
484167, akt2, 9352:type 2 diabetes mellitus 
484186, ihh, 0050604:acrocapitofemoral dysplasia;0110964:brachydactyly type A1 
484223, acvrl1, 1270:hereditary hemorrhagic telangiectasia 
484247, acvr2b, 0050545:visceral heterotaxy 
484285, tp53, 1612:breast cancer;3012:Li-Fraumeni syndrome;3070:malignant glioma;3347:osteosarcoma;3948:adrenocortical carcinoma;4905:pancreatic carcinoma;684:hepatocellular carcinoma;9256:colorectal cancer;9261:nasopharynx carcinoma 
484347, ca2, 0110941:autosomal recessive osteopetrosis 3 
484415, slc22a5, 14365:systemic primary carnitine deficiency disease 
484465, fgf9, 0050794:multiple synostoses syndrome 
484532, vegfc, 0050580:hereditary lymphedema 
484552, sox2, 10629:microphthalmia 
484626, mip, 0110266:cataract 9 multiple types 
484635, gata1, 14250:Down syndrome;1588:thrombocytopenia 
484654, zeb1, 0060457:posterior polymorphous corneal dystrophy;0110857:posterior polymorphous corneal dystrophy 3 
484662, prrx1, 0060341:agnathia-otocephaly complex 
484685, smad9, 14557:primary pulmonary hypertension 
484694, fshb, 0090088:hypogonadotropic hypogonadism 24 without anosmia 
484854, gli3, 1148:polydactyly;14761:Greig cephalopolysyndactyly syndrome;9248:Pallister-Hall syndrome;9250:acrocallosal syndrome 
484952, akt1, 13482:Proteus syndrome;1612:breast cancer;5419:schizophrenia;9256:colorectal cancer 
484961, mitf, 0090002:Tietz syndrome;0090100:ocular albinism with sensorineural deafness;0110950:Waardenburg syndrome type 2A 
484998, wt1, 0050438:Frasier syndrome;1184:nephrotic syndrome;12271:aniridia;14515:WAGR syndrome;1790:malignant mesothelioma;2154:nephroblastoma;3764:Denys-Drash syndrome 
485008, mmp1, 0060642:recessive dystrophic epidermolysis bullosa 
485025, tfap2b, 0060563:Char syndrome 
485043, fgf10, 0050331:LADD syndrome 
485062, gata6, 0050651:atrioventricular septal defect;0110114:atrial heart septal defect 9;6406:double outlet right ventricle;6419:tetralogy of Fallot 
485092, nos2, 10825:essential hypertension 
485100, nphs2, 1184:nephrotic syndrome 
485116, lrp5, 0050535:exudative vitreoretinopathy;0060849:osteoporosis-pseudoglioma syndrome;0080037:Worth's syndrome;0110937:autosomal dominant osteopetrosis 1;11476:osteoporosis 
485175, ret, 0050430:multiple endocrine neoplasia type 2A;0050547:familial medullary thyroid carcinoma;0050771:phaeochromocytoma;0060731:congenital central hypoventilation syndrome;10016:multiple endocrine neoplasia type 2B;14766:renal agenesis 
485219, otx2, 10629:microphthalmia 
485251, sall4, 0060747:Duane-radial ray syndrome 
485279, wnt1, 0110347:osteogenesis imperfecta type 15 
485360, nr5a1, 14227:azoospermia;14448:46 XY gonadal dysgenesis;5426:premature ovarian failure 
485386, arhgef12, 9119:acute myeloid leukemia 
485404, pax4, 0111107:maturity-onset diabetes of the young type 9;9352:type 2 diabetes mellitus 
485413, tshb, 0070123:congenital nongoitrous hypothryoidism 4 
485440, pitx1, 11836:clubfoot 
485486, eya4, 0110440:dilated cardiomyopathy 1J;0110542:autosomal dominant nonsyndromic deafness 10 
485544, dcn, 0060445:congenital stromal corneal dystrophy 
485605, tgfbr2, 0050466:Loeys-Dietz syndrome;5041:esophageal cancer 
485615, bmpr1a, 0050787:juvenile polyposis syndrome;0060389:chromosome 10q23 deletion syndrome;6457:Cowden disease 
485651, hnf1b, 0050387:nonpapillary renal cell carcinoma;0111101:maturity-onset diabetes of the young type 5;10283:prostate cancer;9352:type 2 diabetes mellitus 
485661, jag1, 6419:tetralogy of Fallot;9245:Alagille syndrome 
485690, smad4.1, 0050787:juvenile polyposis syndrome;4905:pancreatic carcinoma 
485743, vegfa, 9352:type 2 diabetes mellitus 
485800, nr2e3, 0090059:enhanced S-cone syndrome;0110399:retinitis pigmentosa 37 
485815, sim1, 9970:obesity 
485904, ins, 0060639:permanent neonatal diabetes mellitus;0111099:maturity-onset diabetes of the young type 1 
485929, gata3, 0060878:hypoparathyroidism-deafness-renal disease syndrome 
485945, tpm1, 0110309:hypertrophic cardiomyopathy 3;0110457:dilated cardiomyopathy 1Y 
485974, tcf7l2, 9352:type 2 diabetes mellitus 
485984, nkx2-1, 12859:choreatic disease;3969:papillary thyroid carcinoma 
485994, grhl2, 0110557:autosomal dominant nonsyndromic deafness 28 
486003, smad7, 9256:colorectal cancer 
486032, lemd3, 4253:melorheostosis 
486051, lrp2, 0090144:Donnai-Barrow syndrome 
486112, lhb, 0090091:hypogonadotropic hypogonadism 23 with or without anosmia 
486146, msr1, 10283:prostate cancer;9206:Barrett's esophagus 
486161, pitx3, 0060605:anterior segment mesenchymal dysgenesis;0110249:cataract 11 multiple types 
486239, slc26a3.2, 0060296:congenital secretory chloride diarrhea 1 
486273, c3, 0110021:age related macular degeneration 9;8354:complement component 3 deficiency 
486282, nphp1, 0050576:Senior-Loken syndrome;0110999:Joubert syndrome 4;0111112:nephronophthisis 1 
486295, fst, 11612:polycystic ovary syndrome 
486305, per2, 0110011:advanced sleep phase syndrome 1 
486370, c5, 8158:complement component 5 deficiency 
486400, mybpc1, 0050646:distal arthrogryposis 
486461, slc2a2, 9352:type 2 diabetes mellitus 
486481, hes7.2, 0050568:spondylocostal dysostosis 
486504, vdr, 10609:rickets;11476:osteoporosis 
486548, slc6a2, 0111154:postural orthostatic tachycardia syndrome 
486611, foxl2, 14778:blepharophimosis, ptosis, and epicanthus inversus syndrome;5426:premature ovarian failure 
486684, prkch, 6713:cerebrovascular disease 
486736, amhr2, 0050791:persistent Mullerian duct syndrome 
486761, tap1, 0060009:MHC class I deficiency 
486780, axin1, 684:hepatocellular carcinoma 
486800, pax2, 0090006:renal coloboma syndrome;14766:renal agenesis 
486854, tbx5, 0060468:Holt-Oram syndrome 
486940, prickle1, 891:progressive myoclonus epilepsy 
486950, nkx2-6, 6406:double outlet right ventricle 
486957, mef2c, 0070050:mental retardation, autosomal dominant 20 
486986, tnni3, 0110460:dilated cardiomyopathy 2A;397:restrictive cardiomyopathy 
487058, pde6c, 0050795:cone dystrophy 
487139, pax7, 4051:alveolar rhabdomyosarcoma 
487199, ctnnb1, 0050902:medulloblastoma;5374:pilomatrixoma;684:hepatocellular carcinoma;9256:colorectal cancer 
487209, mcph1, 10907:microcephaly 
487269, syngap1, 0070035:autosomal dominant non-syndromic intellectual disability 5 
487308, gdf3, 0060838:isolated microphthalmia 7;10426:Klippel-Feil syndrome;10629:microphthalmia 
487333, tbx20, 0110109:atrial heart septal defect 4 
487361, slc9a3r1, 0080078:hypophosphatemic nephrolithiasis/osteoporosis 2 
487370, snai2, 0110952:Waardenburg syndrome type 2D;3263:piebaldism 
487393, mef2a, 3393:coronary artery disease 
487419, smo, 2513:basal cell carcinoma 
487447, mif, 676:juvenile rheumatoid arthritis 
487457, gata4, 0110107:atrial heart septal defect 2;6419:tetralogy of Fallot 
487535, nphp4.2, 0050576:Senior-Loken syndrome;0111115:nephronophthisis 4 
487562, slc11a2, 0050642:hypochromic microcytic anemia 
487572, alas2, 0060063:X-linked sideroblastic anemia;13270:erythropoietic protoporphyria 
487582, pdgfb, 0060230:basal ganglia calcification 
487609, nos1, 12638:hypertrophic pyloric stenosis 
487692, ptgis, 10825:essential hypertension 
487698, htra1, 0110019:age related macular degeneration 7 
487723, nog, 0050788:proximal symphalangism;0050789:tarsal-carpal coalition syndrome;0050794:multiple synostoses syndrome;0110975:brachydactyly type B2 
487754, casp8, 0110116:autoimmune lymphoproliferative syndrome type 2B;1324:lung cancer;1612:breast cancer;684:hepatocellular carcinoma 
487810, nphs1, 1184:nephrotic syndrome 
487872, nphp3, 0060259:renal-hepatic-pancreatic dysplasia;0111114:nephronophthisis 3 
487881, gh1, 0060872:isolated growth hormone deficiency type II;0060873:isolated growth hormone deficiency type IA 
487959, nr0b1, 0080156:X-linked adrenal hypoplasia congenita;14448:46 XY gonadal dysgenesis 
487965, nkx2-5, 0070125:congenital nongoitrous hypothryoidism 5;0110112:atrial heart septal defect 7;6406:double outlet right ventricle;6419:tetralogy of Fallot 
487974, lfng, 0050568:spondylocostal dysostosis 
488023, nf1, 0050458:juvenile myelomonocytic leukemia;8712:neurofibromatosis 
488038, shh, 0110875:holoprosencephaly 3;1148:polydactyly;12270:coloboma 
488110, tgfb1, 1485:cystic fibrosis;4997:Camurati-Engelmann disease 
488148, ifng, 12449:aplastic anemia;13515:tuberous sclerosis;635:acquired immunodeficiency syndrome 
488198, socs3, 0110100:atopic dermatitis 4 
488216, anos1, 0090094:hypogonadotropic hypogonadism 1 with or without anosmia 
488221, ptch1, 0050902:medulloblastoma;0110876:holoprosencephaly 7;2512:nevoid basal cell carcinoma syndrome;2513:basal cell carcinoma 
488396, slc49a4, 0050387:nonpapillary renal cell carcinoma 
488405, prcc, 4465:papillary renal cell carcinoma 
488432, lyz, 0050636:familial visceral amyloidosis 
488441, aspscr1, 4239:alveolar soft part sarcoma 
488450, rnf139, 0050387:nonpapillary renal cell carcinoma 
488469, tbp, 0050967:spinocerebellar ataxia type 17;14330:Parkinson's disease 
488910, sh3tc2, 0110183:Charcot-Marie-Tooth disease type 4C 
488943, zbtb24, 0090009:immunodeficiency-centromeric instability-facial anomalies syndrome 2 
489121, actn2, 0110428:dilated cardiomyopathy 1AA 
489159, smn2, 12376:juvenile spinal muscular atrophy 
489194, tbce, 0060348:hypoparathyroidism-retardation-dysmorphism syndrome 
489237, gjb3, 0050467:erythrokeratodermia variabilis;0110475:autosomal recessive nonsyndromic deafness 1A;0110558:autosomal dominant nonsyndromic deafness 2A 
489335, prpf31, 0110408:retinitis pigmentosa 11 
489396, jup, 0110083:arrhythmogenic right ventricular dysplasia 12 
489534, gsn, 0050637:Finnish type amyloidosis 
489657, lmnb1, 0060785:adult-onset autosomal dominant demyelinating leukodystrophy 
489819, src, 9256:colorectal cancer 
489851, rab18, 0110718:Warburg micro syndrome 3 
489916, cxcr4, 0060591:WHIM syndrome 
489981, itga6, 0060733:junctional epidermolysis bullosa with pyloric atresia 
490007, cav1, 0111137:congenital generalized lipodystrophy type 3 
490074, lhx3, 9406:hypopituitarism 
490114, smpx, 0050566:X-linked nonsyndromic deafness 
490142, atp8b1, 1852:intrahepatic cholestasis 
490168, znf423, 0111122:nephronophthisis 14 
490288, tapbp, 0060009:MHC class I deficiency 
490368, krt17, 0050449:pachyonychia congenita 
490377, msx1, 0050567:orofacial cleft;0050591:tooth agenesis;6678:tooth and nail syndrome 
490480, gja5, 0050650:familial atrial fibrillation 
490562, rab27a, 0060833:Griscelli syndrome type 2 
490580, prokr2, 0090092:hypogonadotropic hypogonadism 3 with or without anosmia 
490605, tubgcp6, 0080105:microcephaly and chorioretinopathy 1 
490623, brca1, 1612:breast cancer 
490632, gcnt2.2, 0110243:cataract 46 juvenile-onset 
490651, palld.2, 4905:pancreatic carcinoma 
490746, sdc3, 9970:obesity 
490755, rbpj, 0060227:Adams-Oliver syndrome 
490807, sftpb, 12120:pulmonary alveolar proteinosis 
490882, actb, 0060229:Baraitser-Winter syndrome 
490900, flrt3, 0090078:hypogonadotropic hypogonadism 7 with or without anosmia;0090093:hypogonadotropic hypogonadism 21 with or without anosmia 
490934, mak, 0110380:retinitis pigmentosa 62 
490992, hnrnpa2b1, 0050881:inclusion body myopathy with Paget disease of bone and frontotemporal dementia 
491048, tlr3, 635:acquired immunodeficiency syndrome 
491065, igbp1, 0060816:corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 
491113, dicer1, 0050489:multinodular goiter;4769:pleuropulmonary blastoma 
491120, tubb2b, 0090132:complex cortical dysplasia with other brain malformations 7 
491161, osmr, 0050639:primary cutaneous amyloidosis 
491265, tubg1, 0090138:complex cortical dysplasia with other brain malformations 4 
491300, rab33b, 0060247:Smith-McCort dysplasia 
491392, sall1, 0050887:Townes-Brocks syndrome 
491432, pten, 0050657:Bannayan-Riley-Ruvalcaba syndrome;0050787:juvenile polyposis syndrome;0060389:chromosome 10q23 deletion syndrome;0060867:macrocephaly-autism syndrome;10283:prostate cancer;13482:Proteus syndrome;1380:endometrial cancer;14679:VACTERL association;3070:malignant glioma;3962:follicular thyroid carcinoma;5520:head and neck squamous cell carcinoma;6457:Cowden disease 
491497, ror2, 0060764:autosomal recessive Robinow syndrome;0110969:brachydactyly type B1 
491597, ak2, 0060020:reticular dysgenesis 
491607, yars, 0110199:Charcot-Marie-Tooth disease dominant intermediate C 
491617, actg1, 0110550:autosomal dominant nonsyndromic deafness 20 
491713, cntn1, 0080101:Compton-North congenital myopathy 
491742, apbb2, 10652:Alzheimer's disease 
491937, acta1, 0080102:congenital fiber-type disproportion;0110927:nemaline myopathy 3 
491964, lox, 0070135:autosomal recessive cutis laxa type IA;3144:cutis laxa 
492034, bard1, 1612:breast cancer 
492105, nefl, 0110149:Charcot-Marie-Tooth disease type 1F;0110165:Charcot-Marie-Tooth disease type 2E 
492155, gcm2, 11199:hypoparathyroidism 
492194, dsp, 0090128:dilated cardiomyopathy with woolly hair and keratoderma;0110076:arrhythmogenic right ventricular dysplasia 8 
492212, ppp1r3a, 0050440:familial partial lipodystrophy;9352:type 2 diabetes mellitus 
492350, syne2, 11726:Emery-Dreifuss muscular dystrophy 
492369, brip1, 0111097:Fanconi anemia complementation group J;1612:breast cancer 
492421, alox5ap, 6713:cerebrovascular disease 
492449, triobp, 0110486:autosomal recessive nonsyndromic deafness 28 
492458, mex3c, 10825:essential hypertension 
492489, arid1a, 0070044:Coffin-Siris syndrome 2 
492511, kit, 2998:testicular cancer;3263:piebaldism;4440:seminoma;5557:testicular germ cell cancer;9119:acute myeloid leukemia;9253:gastrointestinal stromal tumor 
492527, trpm1, 0110867:congenital stationary night blindness 1C 
492608, myo15a, 0110488:autosomal recessive nonsyndromic deafness 3 
492625, rab23, 0060234:Carpenter syndrome 
492664, rax, 0060842:isolated microphthalmia 3;10629:microphthalmia 
492835, sh2b3, 0060652:familial erythrocytosis 1;10608:celiac disease;2224:essential thrombocythemia;4971:myelofibrosis;9744:type 1 diabetes mellitus 
492932, sf3b4, 5768:Nager acrofacial dysostosis 
492999, prok2, 0090077:hypogonadotropic hypogonadism 4 with or without anosmia;0090078:hypogonadotropic hypogonadism 7 with or without anosmia 
493023, vim, 0110248:cataract 30 
493085, mxi1, 10283:prostate cancer 
493095, kcnq3, 14264:benign neonatal seizures 
493146, nexn, 0110326:hypertrophic cardiomyopathy 20;0110424:dilated cardiomyopathy 1CC 
493196, atp6v0a4, 14219:renal tubular acidosis 
493220, mertk, 10584:retinitis pigmentosa 
493229, gja8, 0110231:cataract 1 multiple types 
493263, col1a2, 0110339:osteogenesis imperfecta type 3;0110340:osteogenesis imperfecta type 4;0110341:osteogenesis imperfecta type 2;11476:osteoporosis 
493297, prpf4, 0110392:retinitis pigmentosa 70 
493334, ttbk2, 0050961:spinocerebellar ataxia type 11 
493350, nfkbil1, 7148:rheumatoid arthritis 
493390, smarcal1, 0060490:Schimke immuno-osseous dysplasia 
493421, fgd4, 0110192:Charcot-Marie-Tooth disease type 4H 
493440, nr4a3, 6496:extraskeletal myxoid chondrosarcoma 
493519, axin2, 9256:colorectal cancer 
493578, flnc, 0080096:myofibrillar myopathy 5;11720:distal muscular dystrophy 
493597, smarcb1, 0070045:Coffin-Siris syndrome 3;2129:atypical teratoid rhabdoid tumor;3204:neurilemmomatosis 
493678, cd36, 0111046:platelet-type bleeding disorder 10 
493809, atm, 12704:ataxia telangiectasia;1612:breast cancer 
493856, prph, 0060193:amyotrophic lateral sclerosis type 1 
493901, gfpt1, 0110660:congenital myasthenic syndrome 12;0110679:congenital myasthenic syndrome 4C 
493908, actn1, 0111053:platelet-type bleeding disorder 15 
493936, acta2, 14004:thoracic aortic aneurysm 
493962, hnrnpa1, 0050881:inclusion body myopathy with Paget disease of bone and frontotemporal dementia;0060211:amyotrophic lateral sclerosis type 20 
493996, vhl, 0050387:nonpapillary renal cell carcinoma;0050771:phaeochromocytoma;0060474:Chuvash polycythemia;14175:von Hippel-Lindau disease 
494027, ski, 2340:craniosynostosis 
494059, myo7a, 0110477:autosomal recessive nonsyndromic deafness 2;0110543:autosomal dominant nonsyndromic deafness 11;0110826:Usher syndrome type 1 
494124, foxi1, 0050332:enlarged vestibular aqueduct;0060744:Pendred Syndrome;0110498:autosomal recessive nonsyndromic deafness 4 
494160, gja3, 0110253:cataract 14 multiple types 
494199, grin1, 0070038:autosomal dominant non-syndromic intellectual disability 8 
494213, clcf1, 0060294:cold-induced sweating syndrome 
494301, adrb2, 9970:obesity 
494319, kptn, 0060308:autosomal recessive non-syndromic intellectual disability 
494338, actn4, 0111128:focal segmental glomerulosclerosis 1 
494376, sall2, 12270:coloboma 
494420, asah1, 0050464:Farber lipogranulomatosis 
494464, tpi1, 0050884:triosephosphate isomerase deficiency 
494473, ripk4, 0060055:popliteal pterygium syndrome 
494482, rax2, 0111018:cone-rod dystrophy 11 
494511, lrp4, 0060757:sclerosteosis 2;0090015:Cenani-Lenz syndactyly syndrome 
494528, alg2, 0050570:congenital disorder of glycosylation type I 
494556, fbn2, 0050646:distal arthrogryposis 
494583, mid1, 0050780:Opitz-GBBB syndrome 
494641, flnb, 0050648:atelosteogenesis;0050680:Boomerang dysplasia;0090116:spondylocarpotarsal synostosis syndrome;14764:Larsen syndrome 
494656, clcn2, 644:leukoencephalopathy 
494690, rassf1, 1324:lung cancer 
494739, mecp2, 0060799:syndromic X-linked intellectual disability Lubs type;0060827:X-linked intellectual disability-psychosis-macroorchidism syndrome;1206:Rett syndrome;1932:Angelman syndrome 
494749, lmx1b.1, 1067:open-angle glaucoma;9467:nail-patella syndrome 
494826, fscn2, 0110406:retinitis pigmentosa 30 
494835, sgce, 0090034:myoclonic dystonia 11 
494930, des.1, 0080092:myofibrillar myopathy 1;0110431:dilated cardiomyopathy 1I 
495034, cited2, 0110113:atrial heart septal defect 8;1657:ventricular septal defect 
495052, sumf1, 0050441:mucosulfatidosis 
495062, ndufv1, 0060536:mitochondrial complex I deficiency;3652:Leigh disease;4252:Alexander disease 
495118, fus, 0060198:amyotrophic lateral sclerosis type 6;4990:essential tremor 
852665, amelx, 0110058:amelogenesis imperfecta type 1E 
852728, gyg1, 0050579:glycogen storage disease XV 
852770, sftpc, 0050156:idiopathic pulmonary fibrosis;12120:pulmonary alveolar proteinosis 
852782, ndp, 0050535:exudative vitreoretinopathy;0060844:Norrie disease 
852806, adnp, 0070058:Helsmoortel-Van Der Aa Syndrome 
852842, dmd.2, 0110461:dilated cardiomyopathy 3B;11723:Duchenne muscular dystrophy;9883:Becker muscular dystrophy 
852873, dcc, 5041:esophageal cancer;9256:colorectal cancer 
852904, tusc3, 0060308:autosomal recessive non-syndromic intellectual disability;10283:prostate cancer 
852913, mmp20, 0110057:amelogenesis imperfecta type 2A1 
852929, chn1, 12557:Duane retraction syndrome 
852956, erf, 2340:craniosynostosis 
852973, msx2, 0060285:parietal foramina;2340:craniosynostosis 
853002, alx4, 0060285:parietal foramina 
853010, grip1, 0090001:Fraser syndrome 
853020, tgif1, 0110698:hypotrichosis 1;0110880:holoprosencephaly 4 
853056, dlx5, 0090024:split hand-foot malformation 1 with sensorineural hearing loss 
853081, aurka, 9256:colorectal cancer 
853107, en2, 12849:autistic disorder 
853165, vsx1, 0060457:posterior polymorphous corneal dystrophy;0110855:posterior polymorphous corneal dystrophy 1;10126:keratoconus 
853212, apoe, 0110014:age related macular degeneration 1;0110035:Alzheimer's disease 2;0110040:Alzheimer's disease 4;4423:sea-blue histiocyte syndrome 
853265, cp, 0050711:aceruloplasminemia 
853273, nipbl, 11725:Cornelia de Lange syndrome 
853289, egr2, 0050540:Charcot-Marie-Tooth disease type 3;0110150:Charcot-Marie-Tooth disease type 1D;0110195:Charcot-Marie-Tooth disease type 4E 
853300, upk3a, 14766:renal agenesis 
853368, erbb3, 0060560:lethal congenital contracture syndrome 2 
853396, cebpa, 9119:acute myeloid leukemia 
853608, spag1, 0110607:primary ciliary dyskinesia 28 
853640, pou4f3, 0110546:autosomal dominant nonsyndromic deafness 15 
853647, foxj1, 4481:allergic rhinitis 
853686, slc17a5, 3659:sialuria 
853730, zfhx3, 10283:prostate cancer 
853774, vsx2, 0060839:isolated microphthalmia 2;10629:microphthalmia 
853792, prom1, 0110376:retinitis pigmentosa 41 
853856, phox2a, 0080143:congenital fibrosis of the extraocular muscles 
853922, etv6, 9119:acute myeloid leukemia 
853932, ptpn22, 7148:rheumatoid arthritis;9074:systemic lupus erythematosus;9744:type 1 diabetes mellitus 
853954, ocln, 0050656:pseudo-TORCH syndrome 1 
853971, cftr, 1485:cystic fibrosis 
854021, hps3, 0060539:Hermansky-Pudlak syndrome 1 
854096, pou1f1, 9406:hypopituitarism 
854192, ovol2, 0060457:posterior polymorphous corneal dystrophy;0110855:posterior polymorphous corneal dystrophy 1 
854456, chrnb2, 0060684:autosomal dominant nocturnal frontal lobe epilepsy 3 
854472, adar, 0060257:dyschromatosis symmetrica hereditaria 
854494, pkhd1, 0110861:autosomal recessive polycystic kidney disease 
854542, dnah5, 0110599:primary ciliary dyskinesia 3 
854549, dync1h1, 0070043:autosomal dominant non-syndromic intellectual disability 13;0110175:Charcot-Marie-Tooth disease axonal type 2O 
854591, hps6, 0060539:Hermansky-Pudlak syndrome 1 
854650, psenen, 2280:hidradenitis suppurativa 
854693, dnai2, 0110622:primary ciliary dyskinesia 9 
854776, prdm5, 14775:brittle cornea syndrome 
854835, fam126a, 0060793:hypomyelinating leukodystrophy 5 
854876, psen2, 0110040:Alzheimer's disease 4 
854909, palld, 4905:pancreatic carcinoma 
855712, mstn.2, 0111072:myostatin-related muscle hypertrophy 
855714, umod.3, 0060062:familial juvenile hyperuricemic nephropathy 
855716, umod.2, 0060062:familial juvenile hyperuricemic nephropathy 
855718, slc26a3.1, 0060296:congenital secretory chloride diarrhea 1 
855724, kmt2d, 0060473:Kabuki syndrome 
855929, acads, 0080154:short chain acyl-CoA dehydrogenase deficiency 
855963, ppib, 0110349:osteogenesis imperfecta type 9 
856480, prkar1a, 0050471:Carney complex;0060280:primary pigmented nodular adrenocortical disease;3969:papillary thyroid carcinoma 
862913, ctcf, 0070051:autosomal dominant non-syndromic intellectual disability 21 
866804, slc12a3, 0050450:Gitelman syndrome 
867524, ext1, 206:hereditary multiple exostoses;3371:chondrosarcoma;4998:trichorhinophalangeal syndrome type II 
867541, ext2, 206:hereditary multiple exostoses 
868376, nanos1, 14227:azoospermia 
868442, plag1, 452:pleomorphic adenoma 
868498, diaph3, 0060690:autosomal dominant auditory neuropathy 1 
876245, krt61, 0060256:Dowling-Degos disease;4644:epidermolysis bullosa simplex 
876278, neurog3, 0060779:congenital malabsorptive diarrhea 4 
876285, krt59, 0060256:Dowling-Degos disease;4644:epidermolysis bullosa simplex 
876409, irf6, 0060055:popliteal pterygium syndrome;0060239:Van der Woude syndrome 
876464, hes7.1, 0050568:spondylocostal dysostosis 
876550, prkcg, 0050964:spinocerebellar ataxia type 14 
876589, krt78.7, 0060256:Dowling-Degos disease;4644:epidermolysis bullosa simplex 
876601, gja1, 0050467:erythrokeratodermia variabilis;0050651:atrioventricular septal defect;0060291:oculodentodigital dysplasia;11193:syndactyly;9955:hypoplastic left heart syndrome 
876680, cyp21a2.2, 0050811:congenital adrenal hyperplasia 
876697, tgfbr2.2, 0050466:Loeys-Dietz syndrome;5041:esophageal cancer 
876705, smad6.2, 1712:aortic valve stenosis 
876858, kank1, 10970:spastic quadriplegia 
876868, krt7, 0060256:Dowling-Degos disease;4644:epidermolysis bullosa simplex 
876885, krt78.8, 0060256:Dowling-Degos disease;4644:epidermolysis bullosa simplex 
876968, mpz, 0050540:Charcot-Marie-Tooth disease type 3;0110152:Charcot-Marie-Tooth disease type 1B;0110157:Charcot-Marie-Tooth disease type 2J;0110158:Charcot-Marie-Tooth disease type 2I;0110195:Charcot-Marie-Tooth disease type 4E;0110200:Charcot-Marie-Tooth disease dominant intermediate D 
877014, serpinf2, 0060601:alpha-2-plasmin inhibitor deficiency 
877063, tmie, 0110512:autosomal recessive nonsyndromic deafness 6 
877076, erbb4, 0060210:amyotrophic lateral sclerosis type 19 
877229, chd7, 0050834:CHARGE syndrome;0060250:idiopathic scoliosis;0090084:hypogonadotropic hypogonadism 5 with or without anosmia 
877243, fastkd2, 3762:cytochrome-c oxidase deficiency disease 
877287, aspm, 10907:microcephaly 
877326, epb41l1, 0070041:autosomal dominant non-syndromic intellectual disability 11 
919589, cnbp, 0050759:myotonic dystrophy type 2 
919654, krt78.2, 0060256:Dowling-Degos disease;4644:epidermolysis bullosa simplex 
919737, foxj1.2, 4481:allergic rhinitis 
919796, grhl3, 0060239:Van der Woude syndrome 
919852, cxcl12, 635:acquired immunodeficiency syndrome 
919964, des.2, 0080092:myofibrillar myopathy 1;0110431:dilated cardiomyopathy 1I 
920012, wdr19, 0080033:craniometaphyseal dysplasia;0110089:asphyxiating thoracic dystrophy 5 
920040, lmx1b.2, 1067:open-angle glaucoma;9467:nail-patella syndrome 
920067, nefh, 0060193:amyotrophic lateral sclerosis type 1 
920171, ccbe1, 0060366:Hennekam syndrome 
920189, atxn2, 0050955:spinocerebellar ataxia type 2;14330:Parkinson's disease 
920235, fgf23.1, 0050948:autosomal dominant hypophosphatemic rickets;0111063:hyperphosphatemic familial tumoral calcinosis 
920287, vim.2, 0110248:cataract 30 
920361, dhcr7, 14692:Smith-Lemli-Opitz syndrome 
920446, pla2g6, 0110735:neurodegeneration with brain iron accumulation 2a;0110736:neurodegeneration with brain iron accumulation 2b 
920458, krt62, 0060256:Dowling-Degos disease;4644:epidermolysis bullosa simplex 
920721, lmna, 0050440:familial partial lipodystrophy;0060762:lethal restrictive dermopathy;0110156:Charcot-Marie-Tooth disease type 2B1;0110301:autosomal dominant limb-girdle muscular dystrophy type 1B;0110425:dilated cardiomyopathy 1A;11726:Emery-Dreifuss muscular dystrophy;3911:progeria;5688:Werner syndrome 
920732, insr, 0050470:Donohue syndrome;13317:hyperinsulinemic hypoglycemia 
920751, shox, 0060847:Leri-Weill dyschondrosteosis 
920764, itpr1, 0050965:spinocerebellar ataxia type 15 
920854, men1, 10017:multiple endocrine neoplasia type 1;13543:hyperparathyroidism 
921336, porcn, 2120:focal dermal hypoplasia 
921442, pdgfrl, 684:hepatocellular carcinoma;9256:colorectal cancer 
921488, ptprq, 0110529:autosomal recessive nonsyndromic deafness 84A 
921509, scn4b, 0110651:long QT syndrome 10 
921597, amt, 9268:glycine encephalopathy 
921634, gnao1, 0050709:Ohtahara syndrome 
921738, scn2b, 0050650:familial atrial fibrillation 
921759, aipl1, 0110332:Leber congenital amaurosis 4;10584:retinitis pigmentosa 
921779, gusb, 12803:Sly syndrome 
921797, vwf, 0060573:von Willebrand's disease 1;0060574:von Willebrand's disease 2;0111054:von Willebrand's disease 3;12531:von Willebrand's disease 
921946, bbs2, 0110123:Bardet-Biedl syndrome 1 
922049, ccdc103, 0110621:primary ciliary dyskinesia 17 
922240, slc37a4, 2749:glycogen storage disease I 
922280, trem2, 0090112:Nasu-Hakola disease 
922295, kirrel3, 0070034:autosomal dominant non-syndromic intellectual disability 4 
922380, ldb3, 0080095:myofibrillar myopathy 4 
922444, axl, 0090078:hypogonadotropic hypogonadism 7 with or without anosmia 
922455, crlf1, 0060294:cold-induced sweating syndrome 
922469, b2m, 0050636:familial visceral amyloidosis 
922495, cd79a, 2583:agammaglobulinemia 
922618, als2, 0060194:amyotrophic lateral sclerosis type 2 
922649, gmppb, 0050588:muscular dystrophy-dystroglycanopathy;0110294:autosomal recessive limb-girdle muscular dystrophy type 2T 
922836, cdon, 0110877:holoprosencephaly 11 
922898, lrig2, 0050816:urofacial syndrome 
922951, sema3e, 0050834:CHARGE syndrome;0090078:hypogonadotropic hypogonadism 7 with or without anosmia 
922975, hjv, 0111027:hemochromatosis type 2A 
923000, ntrk1, 0050547:familial medullary thyroid carcinoma;0070146:hereditary sensory neuropathy type 4 
923006, musk, 0110679:congenital myasthenic syndrome 4C 
923069, ppt1, 0110721:neuronal ceroid lipofuscinosis 1 
923105, elac2, 10283:prostate cancer 
923292, mylk, 14004:thoracic aortic aneurysm 
939788, abhd5, 0050729:neutral lipid storage disease 
940129, hcn4, 13884:sick sinus syndrome 
940168, kcnv2, 0050795:cone dystrophy 
940171, mlxipl, 1928:Williams-Beuren syndrome 
940177, fas, 6688:autoimmune lymphoproliferative syndrome 
940348, slc34a3, 0050947:hereditary hypophosphatemic rickets with hypercalciuria 
940356, asxl1, 0050908:myelodysplastic syndrome 
940479, ctsc, 1474:aggressive periodontitis;3389:Papillon-Lefevre disease 
940503, arl6, 0110123:Bardet-Biedl syndrome 1;10584:retinitis pigmentosa 
940619, evc2, 12714:Ellis-Van Creveld syndrome 
940646, chrm3, 0060889:prune belly syndrome 
940693, sco2, 0050713:fatal infantile encephalocardiomyopathy 
940701, reep1, 0110782:hereditary spastic paraplegia 31 
940705, prkra, 0090048:dystonia 16 
940770, agpat2, 0111135:congenital generalized lipodystrophy type 1 
941151, vps35, 0060897:Parkinson disease 17 
941285, snap29, 0060337:CEDNIK syndrome 
941394, hps4, 0060539:Hermansky-Pudlak syndrome 1 
941625, f9, 12259:hemophilia B 
941636, opa3, 0110004:3-methylglutaconic aciduria type 3;5723:optic atrophy 
941643, rtn2, 0110765:hereditary spastic paraplegia 12 
941706, tpmt, 0080172:thiopurine S-methyltransferase deficiency 
941759, tnfrsf10b, 5520:head and neck squamous cell carcinoma 
941773, tspan7, 0050776:non-syndromic X-linked intellectual disability 
941797, ap4s1, 0110804:hereditary spastic paraplegia 52 
941817, c15orf41, 1338:congenital dyserythropoietic anemia 
941864, chmp4b, 0110265:cataract 31 multiple types 
941922, apoa5, 1171:hyperlipoproteinemia type V;1172:hyperlipoproteinemia type IV 
942222, spata7, 0110331:Leber congenital amaurosis 3 
942248, hpgd, 14283:primary hypertrophic osteoarthropathy 
942342, snx10, 0110940:autosomal recessive osteopetrosis 8 
942373, mplkip, 0050528:nonphotosensitive trichothiodystrophy 
942458, trim2, 0110161:Charcot-Marie-Tooth disease type 2R 
942526, cyp27b1, 10609:rickets 
942661, aldh3a2, 14501:Sjogren-Larsson syndrome 
942770, rgs4, 0070085:schizophrenia 9 
942831, ncf4, 3265:chronic granulomatous disease 
942885, myoz2, 0110322:hypertrophic cardiomyopathy 16 
942993, irf1, 0090016:chromosome 5q deletion syndrome;10534:stomach cancer;1324:lung cancer 
943035, nbn, 12449:aplastic anemia;7400:Nijmegen breakage syndrome 
943054, me2, 1827:idiopathic generalized epilepsy 
943221, etfa, 0060358:multiple acyl-CoA dehydrogenase deficiency 
943306, sgcb, 0110279:autosomal recessive limb-girdle muscular dystrophy type 2E 
943337, chic2, 9119:acute myeloid leukemia 
943386, arl2bp, 0110419:retinitis pigmentosa with or without situs inversus 
943467, kars, 0110204:Charcot-Marie-Tooth disease recessive intermediate B;0110534:autosomal recessive nonsyndromic deafness 89 
943504, aass, 9274:hyperlysinemia 
943549, hmbs.2, 3890:acute intermittent porphyria 
943597, prkag2, 0110312:hypertrophic cardiomyopathy 6;384:Wolff-Parkinson-White syndrome 
943657, optn, 1070:primary open angle glaucoma 
943668, phyh, 10582:Refsum disease 
943860, syp, 0050776:non-syndromic X-linked intellectual disability 
944057, gpi, 2861:congenital nonspherocytic hemolytic anemia 
944208, sar1b, 0060357:chylomicron retention disease 
944391, afg3l2, 0050944:spastic ataxia 5;0050977:spinocerebellar ataxia type 28 
944425, gfi1b, 0111049:platelet-type bleeding disorder 17 
944434, pomt1, 0050560:Walker-Warburg syndrome;0110297:autosomal recessive limb-girdle muscular dystrophy type 2K 
944548, lyrm4, 0060286:combined oxidative phosphorylation deficiency 
944559, fars2, 0060286:combined oxidative phosphorylation deficiency 
944566, atp5f1a, 0060333:mitochondrial complex V (ATP synthase) deficiency nuclear type 4 
944682, tdrd7, 0110247:cataract 36 
944761, cog6, 0050571:congenital disorder of glycosylation type II 
944849, hk1, 0110196:Charcot-Marie-Tooth disease type 4G 
944904, rp9, 0110387:retinitis pigmentosa 9 
944986, pcca, 14701:propionic acidemia 
945025, serpinf1, 0110350:osteogenesis imperfecta type 6 
945062, pdss2, 0050730:coenzyme Q10 deficiency disease 
945083, entpd1, 0110815:hereditary spastic paraplegia 64 
945142, stxbp1, 0050709:Ohtahara syndrome;2481:infantile epileptic encephalopathy 
945241, cd82, 10283:prostate cancer 
945366, pde6g, 0110407:retinitis pigmentosa 57;10584:retinitis pigmentosa 
945378, edar, 14793:hypohidrotic ectodermal dysplasia 
945387, adam10, 0110050:Alzheimer's disease 18 
945434, mrpl3, 0060286:combined oxidative phosphorylation deficiency 
945642, hspb8, 0110174:Charcot-Marie-Tooth disease axonal type 2L 
945668, atl1, 0110791:hereditary spastic paraplegia 3A 
945800, gnptg, 0080071:pseudo-Hurler polydystrophy 
945839, rnaseh2a, 0050629:Aicardi-Goutieres syndrome 
945876, ndufs8, 3652:Leigh disease 
945925, coq6, 0050730:coenzyme Q10 deficiency disease 
945970, hla-drb1, 7148:rheumatoid arthritis 
946115, coq8a, 0050730:coenzyme Q10 deficiency disease 
946142, sptlc2, 0070157:hereditary sensory and autonomic neuropathy type 1C 
946219, cd81, 12177:common variable immunodeficiency 
946365, blnk, 2583:agammaglobulinemia 
946379, ppp2r2b, 0050962:spinocerebellar ataxia type 12 
946426, lrpap1, 11830:myopia 
946569, myl3, 0110314:hypertrophic cardiomyopathy 8 
946666, lrrc6, 0110608:primary ciliary dyskinesia 19 
947108, ppp1r17, 13810:familial hypercholesterolemia 
947113, aip, 5394:prolactinoma;6255:growth hormone secreting pituitary adenoma;7004:ACTH-secreting pituitary adenoma 
947166, akr1d1, 0111069:congenital bile acid synthesis defect 2 
947315, gc, 12361:Graves' disease;7997:thyrotoxicosis 
947328, spint2, 0060781:congenital secretory sodium diarrhea 3 
947418, ndufs4, 0060536:mitochondrial complex I deficiency;3652:Leigh disease 
947452, p2ry12, 0060692:platelet-type bleeding disorder 8 
947461, gamt, 0050799:guanidinoacetate methyltransferase deficiency 
947504, btbd9, 0050425:restless legs syndrome 
947543, ephx2, 13810:familial hypercholesterolemia 
947643, stxbp2, 0110925:familial hemophagocytic lymphohistiocytosis 5 
947684, slc45a2, 0050632:oculocutaneous albinism;0070098:oculocutaneous albinism type IV 
947773, gnas, 0080053:Albright's hereditary osteodystrophy;1858:McCune Albright syndrome;4183:pseudopseudohypoparathyroidism;4184:pseudohypoparathyroidism;6255:growth hormone secreting pituitary adenoma;7004:ACTH-secreting pituitary adenoma 
947838, spast, 0110792:hereditary spastic paraplegia 4 
947968, stim1, 0080089:tubular aggregate myopathy 
948021, scarb2, 891:progressive myoclonus epilepsy 
948071, tkt, 10915:Wernicke-Korsakoff syndrome 
948145, ndufa2, 3652:Leigh disease 
948282, bsnd, 0110145:Bartter disease type 4a 
948373, gnpat, 0110852:rhizomelic chondrodysplasia punctata type 2 
948442, serpini1, 0050831:familial encephalopathy with neuroserpin inclusion bodies 
948492, urod, 3132:porphyria cutanea tarda 
948526, pgm1, 0050570:congenital disorder of glycosylation type I 
948556, ube3a, 1932:Angelman syndrome 
948567, cnga3, 0110007:achromatopsia 2 
948574, bcl10, 0060060:non-Hodgkin lymphoma;1790:malignant mesothelioma;2998:testicular cancer;4440:seminoma;5557:testicular germ cell cancer 
948669, usb1, 0060551:poikiloderma with neutropenia 
948679, coq9, 0050730:coenzyme Q10 deficiency disease 
948742, sncaip, 14330:Parkinson's disease 
948819, chmp2b, 9255:frontotemporal dementia 
948845, xiap, 0060705:X-linked lymphoproliferative syndrome 1;0060706:X-linked lymphoproliferative syndrome 2 
948858, zdhhc15, 0050776:non-syndromic X-linked intellectual disability 
948946, comt, 5419:schizophrenia;594:panic disorder 
949108, scnn1b, 0050477:Liddle syndrome;0060854:autosomal recessive pseudohypoaldosteronism type 1 
949135, ndufa10, 3652:Leigh disease 
949305, ap4b1, 0110799:hereditary spastic paraplegia 47 
949326, grin2b, 0070036:autosomal dominant non-syndromic intellectual disability 6 
949344, cdc73, 13543:hyperparathyroidism;1540:parathyroid carcinoma 
949373, grm6, 0110865:congenital stationary night blindness 1B 
949398, xylt1, 2738:pseudoxanthoma elasticum 
949441, plin1, 0050440:familial partial lipodystrophy 
949448, strc, 0110471:autosomal recessive nonsyndromic deafness 16;14227:azoospermia 
949451, sstr5, 6255:growth hormone secreting pituitary adenoma 
949517, sgcd, 0110280:autosomal recessive limb-girdle muscular dystrophy type 2F;0110436:dilated cardiomyopathy 1L 
949550, ndufa9, 3652:Leigh disease 
949569, ttc7a, 14671:multiple intestinal atresia 
949772, arhgef6, 0050776:non-syndromic X-linked intellectual disability 
949791, ercc2, 0110845:xeroderma pigmentosum group D;2960:photosensitive trichothiodystrophy 
949800, dmpk, 11722:myotonic dystrophy type 1 
949923, nyx, 0110870:congenital stationary night blindness 1A 
950016, ahcy, 0111039:hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 
950077, ppp2r1b, 1324:lung cancer 
950143, erlin2, 0110771:hereditary spastic paraplegia 18 
950176, atp2b2, 0110467:autosomal recessive nonsyndromic deafness 12 
950278, klhdc8b, 8567:Hodgkin's lymphoma 
950296, cpox, 13269:hereditary coproporphyria 
950362, cog5, 0050571:congenital disorder of glycosylation type II 
950379, slc26a4.3, 0050332:enlarged vestibular aqueduct;0060744:Pendred Syndrome;0110498:autosomal recessive nonsyndromic deafness 4 
950441, ptpn1, 9352:type 2 diabetes mellitus 
950489, slc2a10, 0050645:arterial tortuosity syndrome 
950500, ada, 5810:adenosine deaminase deficiency 
950567, tdp1, 0090115:spinocerebellar ataxia type 1 with axonal neuropathy 
950678, mlf1, 9119:acute myeloid leukemia 
950695, gmps, 9119:acute myeloid leukemia 
950719, dnah11, 0110605:primary ciliary dyskinesia 7 
950754, chd2, 0060475:childhood onset epileptic encephalopathy 
950761, agbl1, 11555:Fuchs' endothelial dystrophy 
950816, sag, 0110712:Oguchi disease-1 
950908, adcy1, 0110501:autosomal recessive nonsyndromic deafness 44 
950953, cnga1, 0110377:retinitis pigmentosa 49;10584:retinitis pigmentosa 
951019, lrba, 12177:common variable immunodeficiency 
951075, cdkl5, 0050709:Ohtahara syndrome;1206:Rett syndrome 
951277, hccs, 10629:microphthalmia 
951362, por, 0050462:Antley-Bixler syndrome 
951459, cyp1b1, 0060673:Peters anomaly;1067:open-angle glaucoma;1070:primary open angle glaucoma;11211:buphthalmos 
951522, pnkd, 0090049:paroxysmal nonkinesigenic dyskinesia 1 
951544, lpl, 13809:familial combined hyperlipidemia;14118:familial lipoprotein lipase deficiency 
951560, sh3gl1, 9119:acute myeloid leukemia 
951582, b3glct, 0080201:Peters plus syndrome 
951632, lpp, 9119:acute myeloid leukemia 
951754, kif2a, 0090134:complex cortical dysplasia with other brain malformations 3 
951822, egf, 0060882:renal hypomagnesemia 4 
952013, stx11, 0110924:familial hemophagocytic lymphohistiocytosis 4 
952038, kcnk9, 0050675:Birk-Barel syndrome 
952068, slc39a5, 11830:myopia 
952106, bbs4, 0110123:Bardet-Biedl syndrome 1 
952134, calcr, 11476:osteoporosis 
952209, gucy2c, 0060780:congenital diarrhea 6 
952295, bank1, 9074:systemic lupus erythematosus 
952371, taf1, 0090057:X-linked dystonia-parkinsonism 
952430, plcg2, 0090064:familial cold autoinflammatory syndrome 3 
952498, dpagt1, 0050570:congenital disorder of glycosylation type I 
952505, colec11, 0060225:3MC syndrome;0060576:3MC syndrome 2 
952547, cep63, 0070006:Seckel syndrome 6 
952585, sucla2, 0080120:mitochondrial DNA depletion syndrome 2;0080121:mitochondrial DNA depletion syndrome 3;0080124:mitochondrial DNA depletion syndrome 5 
952650, cln8, 0110723:neuronal ceroid lipofuscinosis 8;0110724:neuronal ceroid lipofuscinosis 8 northern epilepsy variant 
952668, pdha1, 3649:pyruvate decarboxylase deficiency 
952752, dclre1c, 0060010:Omenn syndrome;0090012:severe combined immunodeficiency with sensitivity to ionizing radiation 
952813, prnp, 0050433:fatal familial insomnia;0090103:Huntington disease-like 1;11949:Creutzfeldt-Jakob disease;4249:Gerstmann-Straussler-Scheinker syndrome 
952838, cep83, 0111125:nephronophthisis 18 
952865, pc.1, 3651:pyruvate carboxylase deficiency disease 
952912, nrxn1, 12849:autistic disorder 
952971, minpp1, 3962:follicular thyroid carcinoma 
953026, wdr34, 0110095:short-rib thoracic dysplasia 11 with or without polydactyly 
953035, abcd1, 10588:adrenoleukodystrophy 
953086, manf, 4905:pancreatic carcinoma 
953256, slc19a2, 0090117:thiamine-responsive megaloblastic anemia syndrome 
953315, psph, 0050724:PSPH deficiency 
953337, sdccag8, 0050576:Senior-Loken syndrome;0110123:Bardet-Biedl syndrome 1 
953407, grhpr.1, 2977:primary hyperoxaluria 
953533, sms, 0050888:syndromic intellectual disability;0060802:syndromic X-linked intellectual disability Snyder type 
953675, ca8, 0050997:cerebellar ataxia, mental retardation and dysequlibrium syndrome 
953692, ttpa, 0090028:familial isolated deficiency of vitamin E 
953768, elovl4, 0050817:Stargardt disease 
953784, bckdhb, 9269:maple syrup urine disease 
953834, abcb1, 0110893:inflammatory bowel disease 13 
953844, hs6st1, 0090075:hypogonadotropic hypogonadism 15 with or without anosmia 
953877, lama2, 0110636:congenital merosin-deficient muscular dystrophy 1A 
953894, cyp19a1, 0090122:aromatase excess syndrome 
953966, agrn, 0110657:congenital myasthenic syndrome 8 
954174, pex10, 10588:adrenoleukodystrophy;905:Zellweger syndrome 
954189, fbn1, 0050475:Weill-Marchesani syndrome;0111150:autosomal dominant isolated ectopia lentis 1;14323:Marfan syndrome;2340:craniosynostosis 
954250, nin, 0070011:Seckel syndrome 7 
954260, ldlrap1, 0090105:autosomal recessive hypercholesterolemia 
954284, zmpste24, 0060762:lethal restrictive dermopathy 
954329, sp7, 0110348:osteogenesis imperfecta type 12 
954343, neb, 0110928:nemaline myopathy 2 
954413, galnt3, 0111063:hyperphosphatemic familial tumoral calcinosis 
954419, letm1, 0050460:Wolf-Hirschhorn syndrome 
954595, bbs9, 0110123:Bardet-Biedl syndrome 1 
954607, cox10, 3652:Leigh disease;3762:cytochrome-c oxidase deficiency disease 
954658, cldn19, 0060881:renal hypomagnesemia 5 with ocular involvement 
954752, jph1, 0110167:Charcot-Marie-Tooth disease axonal type 2K 
954818, crygc, 0110235:cataract 2 multiple types 
954849, lrmda, 0070100:oculocutaneous albinism type VII 
954871, foxn1, 0060769:T-cell immunodeficiency, congenital alopecia, and nail dystrophy 
954917, lgi1, 0060748:familial temporal lobe epilepsy 1;3070:malignant glioma 
954957, pex3, 905:Zellweger syndrome 
955008, opn1lw, 0050679:blue cone monochromacy;13910:red color blindness 
955027, emd, 11726:Emery-Dreifuss muscular dystrophy 
955040, picalm.1, 9119:acute myeloid leukemia 
955076, ncstn, 2280:hidradenitis suppurativa 
955122, pdhx, 3649:pyruvate decarboxylase deficiency 
955228, agrp, 9970:obesity 
955278, stk11, 2998:testicular cancer;3852:Peutz-Jeghers syndrome;4440:seminoma;4905:pancreatic carcinoma;5557:testicular germ cell cancer 
955301, pygm, 2746:glycogen storage disease V 
955413, plod1, 13359:Ehlers-Danlos syndrome 
955440, scn3b, 0110224:Brugada syndrome 7 
955477, cog8, 0050571:congenital disorder of glycosylation type II 
955546, lipc, 9352:type 2 diabetes mellitus 
955553, bdnf, 0060731:congenital central hypoventilation syndrome;12129:bulimia nervosa 
955608, hpd, 0050727:tyrosinemia type III 
955640, myot, 0080091:spheroid body myopathy;0080094:myofibrillar myopathy 3;0110300:autosomal dominant limb-girdle muscular dystrophy type 1A 
955753, ano10, 0050999:autosomal recessive spinocerebellar ataxia 10 
955797, gjb2, 0050566:X-linked nonsyndromic deafness;0050658:Bart-Pumphrey syndrome;0060871:autosomal dominant keratitis-ichthyosis-deafness syndrome;0110475:autosomal recessive nonsyndromic deafness 1A;0110564:autosomal dominant nonsyndromic deafness 3A;10003:sensorineural hearing loss 
956060, gcsh, 9268:glycine encephalopathy 
956080, kcnk3, 14557:primary pulmonary hypertension 
956097, etfb, 0060358:multiple acyl-CoA dehydrogenase deficiency 
956127, cryba1, 0110258:cataract 10 multiple types 
956204, lars2, 0050857:Perrault syndrome 
956214, ezh2, 14731:Weaver syndrome 
956229, cntnap2, 0090130:cortical dysplasia-focal epilepsy syndrome 
956282, atxn7, 0050958:spinocerebellar ataxia type 7 
956329, synj1, 0060898:early-onset Parkinson disease 20 
956381, znf711, 0050776:non-syndromic X-linked intellectual disability 
956388, chm, 9821:choroideremia 
956422, sgcg, 0110277:autosomal recessive limb-girdle muscular dystrophy type 2C 
956544, ppm1k, 9269:maple syrup urine disease 
956597, ndufb9, 0060536:mitochondrial complex I deficiency 
956630, bscl2, 0110770:hereditary spastic paraplegia 17;0111136:congenital generalized lipodystrophy type 2 
956712, gnb3, 10825:essential hypertension 
956766, coq8b, 1184:nephrotic syndrome 
956799, xdh, 0060236:xanthinuria 
956857, klf11, 0111106:maturity-onset diabetes of the young type 7 
956941, sdha, 0060537:mitochondrial complex II deficiency;3652:Leigh disease 
957006, cubn, 13382:megaloblastic anemia 
957162, emp2, 1184:nephrotic syndrome 
957261, lins1, 0060308:autosomal recessive non-syndromic intellectual disability 
957266, cers3, 0060718:autosomal recessive congenital ichthyosis 9 
957296, ush2a, 0110838:Usher syndrome type 2A;10584:retinitis pigmentosa 
957339, ccdc28b, 0110123:Bardet-Biedl syndrome 1 
957444, pth1r, 0060387:chondrodysplasia Blomstrand type;4624:Ollier disease 
957447, impdh1, 0110388:retinitis pigmentosa 10 
957493, abat, 0060174:GABA aminotransferase deficiency 
957582, smc3, 11725:Cornelia de Lange syndrome 
957612, cdh23, 0110467:autosomal recessive nonsyndromic deafness 12;0110831:Usher syndrome type 1D 
957672, zfhx4, 0060261:congenital ptosis 
957683, g6pd, 2861:congenital nonspherocytic hemolytic anemia 
957702, huwe1, 0060811:syndromic X-linked intellectual disability Turner type 
957719, itk, 0060707:lymphoproliferative syndrome 1 
957741, bloc1s6, 0060547:Hermansky-Pudlak syndrome 9 
957774, hoga1, 2977:primary hyperoxaluria 
958126, slc30a8, 9352:type 2 diabetes mellitus 
958178, trpm6, 0060883:intestinal hypomagnesemia 1 
958328, tph2, 1595:endogenous depression 
958407, kcnc3, 0050963:spinocerebellar ataxia type 13 
958441, aimp1, 0060790:hypomyelinating leukodystrophy 3 
958504, map3k8, 1324:lung cancer 
958511, mtpap, 0050943:spastic ataxia 4 
958590, pcm1, 3969:papillary thyroid carcinoma 
958697, man2b1, 3413:alpha-mannosidosis 
958955, emg1, 0050684:Bowen-Conradi syndrome 
959027, neu1, 3343:glycoproteinosis 
959053, pthlh, 0110976:brachydactyly type E2 
959236, syn2, 5419:schizophrenia 
959256, dnm2, 0110197:Charcot-Marie-Tooth disease dominant intermediate B;14717:centronuclear myopathy 
959402, pnpla6, 0110790:hereditary spastic paraplegia 39 
959414, cyba, 3265:chronic granulomatous disease 
959494, dbh, 0090145:dopamine beta-hydroxylase deficiency;14330:Parkinson's disease 
959497, yars2, 0080099:myopathy, lactic acidosis, and sideroblastic anemia 
959528, dnmt3a, 9119:acute myeloid leukemia 
959677, atxn10, 0050960:spinocerebellar ataxia type 10 
959855, pomgnt1, 0050560:Walker-Warburg syndrome 
959866, sf3b1, 0050908:myelodysplastic syndrome 
959880, pms1, 3883:Lynch syndrome 
960068, cln5, 0110728:neuronal ceroid lipofuscinosis 5 
960118, ung, 0060759:immunodeficiency with hyper IgM type 5 
960249, rpl15, 1339:Diamond-Blackfan anemia 
960266, tmem127, 0050771:phaeochromocytoma 
960285, gnrh1, 0090072:hypogonadotropic hypogonadism 12 with or without anosmia;0090078:hypogonadotropic hypogonadism 7 with or without anosmia 
960310, lzts1, 5041:esophageal cancer 
960315, kdm6a, 0060473:Kabuki syndrome 
960364, ing1, 5520:head and neck squamous cell carcinoma 
960379, ercc5, 0110849:xeroderma pigmentosum group G 
960469, kif1a, 0070039:autosomal dominant non-syndromic intellectual disability 9;0070147:hereditary sensory neuropathy type 2C;0110781:hereditary spastic paraplegia 30 
960490, hsd11b1, 0090141:cortisone reductase deficiency 1 
960508, rp1l1, 0050578:occult macular dystrophy 
960552, gfi1, 0050590:severe congenital neutropenia 
960555, tfg, 6496:extraskeletal myxoid chondrosarcoma 
960581, espn, 0110494:autosomal recessive nonsyndromic deafness 36 
960698, slc12a6, 0060600:hereditary motor and sensory neuropathy with agenesis of the corpus callosum;0090003:agenesis of the corpus callosum with peripheral neuropathy 
960721, mc4r, 9970:obesity 
960724, pign, 0080138:multiple congenital anomalies-hypotonia-seizures syndrome 1 
960753, fech, 13270:erythropoietic protoporphyria 
960778, cyp11a1, 0050811:congenital adrenal hyperplasia 
960793, agps, 0110853:rhizomelic chondrodysplasia punctata type 3 
960802, wipf1, 9169:Wiskott-Aldrich syndrome 
960884, chst6, 2565:macular corneal dystrophy 
960956, atp6v0a2, 0070134:autosomal recessive cutis laxa type IIA;3144:cutis laxa 
960984, cpa6, 0060752:familial temporal lobe epilepsy 5 
960991, srp54, 0060479:Shwachman-Diamond syndrome 
961018, pde6b, 0110863:congenital stationary night blindness autosomal dominant 2 
961069, zmynd10, 0110597:primary ciliary dyskinesia 22 
961196, col8a2, 0060457:posterior polymorphous corneal dystrophy;0110855:posterior polymorphous corneal dystrophy 1;11555:Fuchs' endothelial dystrophy 
961230, ndufs1, 0060536:mitochondrial complex I deficiency 
961346, reep2, 0110817:hereditary spastic paraplegia 72 
961356, ddhd1, 0110779:hereditary spastic paraplegia 28 
961364, gch1, 0090043:dystonia 5 
961408, rp2, 0110415:retinitis pigmentosa 2 
961418, nipa1, 0110811:hereditary spastic paraplegia 6 
961433, eif2b3, 0060868:leukoencephalopathy with vanishing white matter 
961512, fbxl4, 0080131:mitochondrial DNA depletion syndrome 13 
961540, gk, 0060363:glycerol kinase deficiency 
961571, bfsp2, 0110239:cataract 12 multiple types;0110266:cataract 9 multiple types 
961628, cplane1, 0110980:Joubert syndrome 1;0110986:Joubert syndrome 17 
961648, tmem43, 0110074:arrhythmogenic right ventricular dysplasia 5 
961681, vps45, 0050590:severe congenital neutropenia 
961722, adamts10, 0050475:Weill-Marchesani syndrome 
961763, pak3, 0050776:non-syndromic X-linked intellectual disability 
961824, itga8, 14766:renal agenesis 
961882, chsy1, 0050814:temtamy preaxial brachydactyly syndrome 
962084, arsb, 12800:mucopolysaccharidosis VI 
962103, pnmt, 10825:essential hypertension 
962174, alad, 3133:acute porphyria 
962221, sepsecs, 0060270:pontocerebellar hypoplasia type 2D 
962244, atcay, 0060694:Cayman type cerebellar ataxia 
962319, kcne1, 2842:Jervell-Lange Nielsen syndrome 
962359, cacnb2, 0110221:Brugada syndrome 4 
962371, ldlr, 13810:familial hypercholesterolemia 
962405, rom1, 0110383:retinitis pigmentosa 7;10584:retinitis pigmentosa 
962455, lamp2, 0050437:Danon disease 
962568, snta1, 0110653:long QT syndrome 12 
962590, apoa1, 0050636:familial visceral amyloidosis 
962622, nsun2, 0060308:autosomal recessive non-syndromic intellectual disability 
962677, mcm6.2, 10604:lactose intolerance 
962773, nek2, 0110359:retinitis pigmentosa 67 
962825, orai1, 0080089:tubular aggregate myopathy 
962904, cav3.1, 0060255:rippling muscle disease 2;0110302:autosomal dominant limb-girdle muscular dystrophy type 1C;0110307:hypertrophic cardiomyopathy 1;0110650:long QT syndrome 9 
962999, auh, 0110002:3-methylglutaconic aciduria type 1 
963049, ndufv2, 0060536:mitochondrial complex I deficiency;14330:Parkinson's disease 
963067, acaa1, 0090031:D-bifunctional protein deficiency 
963078, gars, 0110164:Charcot-Marie-Tooth disease type 2D 
963272, ubiad1, 0060456:Schnyder corneal dystrophy 
963354, tbc1d20.1, 0110719:Warburg micro syndrome 4 
963399, cpt2, 0060235:carnitine palmitoyltransferase II deficiency 
963434, slc40a1, 0111028:hemochromatosis type 4 
963486, mmachc, 0050715:methylmalonic aciduria and homocystinuria type cblC 
963522, aars, 0110177:Charcot-Marie-Tooth disease axonal type 2N 
963540, orc6, 0060306:Meier-Gorlin syndrome 
963574, lyrm7, 0080117:mitochondrial complex III deficiency nuclear type 8 
963627, cul4b, 0060822:syndromic X-linked intellectual disability Cabezas type 
963671, pus1, 0080099:myopathy, lactic acidosis, and sideroblastic anemia 
963708, ednrb, 0050600:ABCD syndrome;0110953:Waardenburg syndrome type 4A 
963756, neurod1, 9352:type 2 diabetes mellitus 
963772, ucp1, 9970:obesity 
963935, abcg5, 0090019:sitosterolemia 
963940, ngly1, 0060728:NGLY1-deficiency 
964256, fhl1, 0060253:scapuloperoneal myopathy;0080090:reducing body myopathy;11726:Emery-Dreifuss muscular dystrophy 
964269, fkrp, 0050560:Walker-Warburg syndrome;0110299:autosomal recessive limb-girdle muscular dystrophy type 2I;0110635:muscular dystrophy-dystroglycanopathy type B5 
964274, ddhd2, 0110806:hereditary spastic paraplegia 54 
964300, atp6ap2, 0060806:syndromic X-linked intellectual disability Hedera type 
964391, fah, 0050726:tyrosinemia type I 
964442, lig4, 0060021:DNA ligase IV deficiency;9538:multiple myeloma 
964467, mocs2, 0111164:molybdenum cofactor deficiency type A 
964502, cidec, 0050440:familial partial lipodystrophy 
964547, mastl, 1588:thrombocytopenia 
964566, jph2, 0110323:hypertrophic cardiomyopathy 17 
964687, tm4sf20, 0060244:specific language impairment 
964860, tsfm, 0060286:combined oxidative phosphorylation deficiency 
965028, gale, 9870:galactosemia 
965119, cryba2, 0110237:cataract 42 
965455, dbt, 9269:maple syrup urine disease 
965515, cacng2, 0070040:autosomal dominant non-syndromic intellectual disability 10 
965637, epm2a, 3534:Lafora disease 
965886, rps26, 1339:Diamond-Blackfan anemia 
965953, gatad1, 0110441:dilated cardiomyopathy 2B 
965963, bbs5, 0110123:Bardet-Biedl syndrome 1 
966355, naa10, 0050781:Ogden syndrome 
966368, sema3a, 0050834:CHARGE syndrome;0090080:hypogonadotropic hypogonadism 16 with or without anosmia 
966402, figla, 5426:premature ovarian failure 
966464, prkg1, 14004:thoracic aortic aneurysm 
966504, dolk, 0050570:congenital disorder of glycosylation type I 
966696, stub1, 0080029:autosomal recessive spinocerebellar ataxia 16 
966798, prpf8, 0110403:retinitis pigmentosa 13 
966857, setx, 0060196:amyotrophic lateral sclerosis type 4 
966864, ift122, 0050577:Sensenbrenner syndrome 
966886, rho, 0110862:congenital stationary night blindness autosomal dominant 1;11105:fundus albipunctatus 
966912, arg1, 9278:hyperargininemia 
966925, exosc3, 0060266:pontocerebellar hypoplasia type 1B 
967036, coq2, 0050730:coenzyme Q10 deficiency disease 
967046, alg8, 0050570:congenital disorder of glycosylation type I 
967145, aaas, 0050602:triple-A syndrome 
967177, rpl26, 1339:Diamond-Blackfan anemia 
967250, pnpt1, 0060286:combined oxidative phosphorylation deficiency;0110521:autosomal recessive nonsyndromic deafness 70 
967300, mccc1, 0050710:3-Methylcrotonyl-CoA carboxylase deficiency 
967530, ccn6, 0090004:progressive pseudorheumatoid arthropathy of childhood 
967644, rps24, 1339:Diamond-Blackfan anemia 
968173, atp2c1, 0050429:Hailey-Hailey disease 
968253, taf2, 0060308:autosomal recessive non-syndromic intellectual disability 
968659, c9, 0060303:complement component 9 deficiency;0110027:age related macular degeneration 15 
968671, smchd1, 11727:facioscapulohumeral muscular dystrophy 
968699, rpe65, 0110016:Leber congenital amaurosis 2 
968717, myh6, 0110307:hypertrophic cardiomyopathy 1 
968798, rps19, 1339:Diamond-Blackfan anemia 
968840, klhl40, 0110930:nemaline myopathy 8 
968863, gjc2, 0060787:hypomyelinating leukodystrophy 2 
969022, usp8, 7004:ACTH-secreting pituitary adenoma 
969107, bbs10, 0110123:Bardet-Biedl syndrome 1 
969116, tsen54, 0060267:pontocerebellar hypoplasia type 2A 
969126, galk1, 14695:galactokinase deficiency 
969235, ube2a, 0050888:syndromic intellectual disability;0060820:syndromic X-linked intellectual disability Nascimento type 
969276, bag3, 0080097:myofibrillar myopathy 6;0110448:dilated cardiomyopathy 1HH 
969316, timm8a, 0050757:deafness dystonia syndrome 
969333, vps37a, 0110805:hereditary spastic paraplegia 53 
969407, clpp, 0050857:Perrault syndrome 
969572, vcp, 0050881:inclusion body myopathy with Paget disease of bone and frontotemporal dementia 
969738, eef2.1, 0050975:spinocerebellar ataxia type 26 
969776, rps10, 1339:Diamond-Blackfan anemia 
969893, stt3b, 0050570:congenital disorder of glycosylation type I 
969901, gpd1l, 0110219:Brugada syndrome 2 
969934, ddx11, 0060535:Warsaw breakage syndrome 
969999, pex26, 0050444:infantile Refsum disease;10582:Refsum disease;10588:adrenoleukodystrophy;905:Zellweger syndrome 
970009, ap4m1, 0110802:hereditary spastic paraplegia 50 
970083, nfkb2, 12177:common variable immunodeficiency 
970192, sdhb, 0050771:phaeochromocytoma;0050773:paraganglioma;6457:Cowden disease;9253:gastrointestinal stromal tumor 
970246, cbx2, 14448:46 XY gonadal dysgenesis 
970632, rrm2b, 0080127:mitochondrial DNA depletion syndrome 8a 
970637, gnb4, 0110206:Charcot-Marie-Tooth disease dominant intermediate F 
970700, tcn2, 0050818:transcobalamin II deficiency 
970771, dgcr2, 12583:velocardiofacial syndrome 
970836, cog7, 0050571:congenital disorder of glycosylation type II 
970847, ears2, 0060286:combined oxidative phosphorylation deficiency 
971258, nubpl, 0060536:mitochondrial complex I deficiency 
971378, cryab, 0080093:myofibrillar myopathy 2 
971396, dstyk, 0080206:CAKUT1 
971500, atxn3, 1440:Machado-Joseph disease 
971527, slc33a1, 0110794:hereditary spastic paraplegia 42 
971587, cycs, 1588:thrombocytopenia 
971612, klhl7, 0110386:retinitis pigmentosa 42 
971787, fktn, 0050559:Fukuyama congenital muscular dystrophy;0050560:Walker-Warburg syndrome;0110296:autosomal recessive limb-girdle muscular dystrophy type 2M;0110444:dilated cardiomyopathy 1X 
971822, cldn16, 0060880:renal hypomagnesemia 3 
971827, ddb2, 0110846:xeroderma pigmentosum group E 
971916, rgs5, 10825:essential hypertension 
971957, vldlr, 0050997:cerebellar ataxia, mental retardation and dysequlibrium syndrome 
972153, ids, 12799:mucopolysaccharidosis II 
972193, tmem165, 0050571:congenital disorder of glycosylation type II 
972266, etfdh, 0060358:multiple acyl-CoA dehydrogenase deficiency 
972375, wdr45, 0110739:neurodegeneration with brain iron accumulation 5 
972412, dnajb6, 0110305:autosomal dominant limb-girdle muscular dystrophy type 1E 
972470, eif2b1, 0060868:leukoencephalopathy with vanishing white matter 
972563, fto, 9970:obesity 
972601, wdr36, 1067:open-angle glaucoma;1070:primary open angle glaucoma 
972612, gle1, 0060559:lethal congenital contracture syndrome 1 
972619, smc1a, 11725:Cornelia de Lange syndrome 
972642, eftud2, 0080196:mandibulofacial dysostosis, Guion-Almeida type 
972825, atpaf2, 0050768:mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 
972921, glrx5, 0060065:pyridoxine-refractory autosomal recessive sideroblastic anemia 
972934, acadm, 0080153:medium chain acyl-CoA dehydrogenase deficiency 
973091, ndufb3, 0060536:mitochondrial complex I deficiency 
973160, mmadhc, 0050716:methylmalonic aciduria and homocystinuria type cblD 
973184, slc25a15, 0050720:ornithine translocase deficiency 
973260, nhp2, 0070015:autosomal recessive dyskeratosis congenita 1;0070017:autosomal recessive dyskeratosis congenita 2 
973271, b4galt7, 0050802:Ehlers-Danlos syndrome progeroid type 
973306, sncb, 12217:Lewy body dementia 
973477, pex19, 905:Zellweger syndrome 
973540, arhgdia, 1184:nephrotic syndrome 
973628, mpi, 0050570:congenital disorder of glycosylation type I 
973637, stt3a, 0050570:congenital disorder of glycosylation type I 
973687, tat, 0050725:tyrosinemia type II 
973705, tmem138, 0110980:Joubert syndrome 1;0110985:Joubert syndrome 16 
973747, pomgnt2, 0050588:muscular dystrophy-dystroglycanopathy 
973826, nup155, 0050650:familial atrial fibrillation 
973888, hba2, 0110031:hemoglobin H disease;1099:alpha thalassemia 
973906, crbn, 0060308:autosomal recessive non-syndromic intellectual disability 
974088, eif2b2, 0060868:leukoencephalopathy with vanishing white matter 
974113, b3galt6, 0050802:Ehlers-Danlos syndrome progeroid type 
974303, ethe1, 0060640:ethylmalonic encephalopathy 
974452, tardbp, 0060201:amyotrophic lateral sclerosis type 10 
974513, gatm, 0050712:AGAT deficiency 
974587, apopt1, 3762:cytochrome-c oxidase deficiency disease 
974662, sec23b, 1338:congenital dyserythropoietic anemia 
974693, c6.2, 0060299:complement component 6 deficiency 
974719, cdc6, 0060306:Meier-Gorlin syndrome 
974885, lztfl1, 0110123:Bardet-Biedl syndrome 1 
974947, sdhc, 0050773:paraganglioma;9253:gastrointestinal stromal tumor 
975114, atp2a1, 0050692:Brody myopathy 
975255, slc7a7, 0060439:lysinuric protein intolerance 
975266, dhfr, 13382:megaloblastic anemia 
975276, ndufs2, 0060536:mitochondrial complex I deficiency 
975312, slc1a3, 0050994:episodic ataxia type 6 
975372, iqcb1, 0050576:Senior-Loken syndrome 
975698, pcbd1, 9351:diabetes mellitus 
975728, dpm3, 0050570:congenital disorder of glycosylation type I 
975749, stil, 10907:microcephaly 
975781, serpinc1, 3755:antithrombin III deficiency 
975868, dnajc6, 0060891:juvenile onset Parkinson disease 19A 
975936, mkks, 0110123:Bardet-Biedl syndrome 1 
975959, ndufaf5, 0060536:mitochondrial complex I deficiency 
976034, dgcr8, 12583:velocardiofacial syndrome 
976154, uqcrc2, 0080114:mitochondrial complex III deficiency nuclear type 5 
976197, dao, 5419:schizophrenia 
976228, ddx59, 0060375:orofaciodigital syndrome V 
976278, arl6ip1, 0110812:hereditary spastic paraplegia 61 
976302, rlbp1, 0050683:Bothnia retinal dystrophy;0111015:Newfoundland cone-rod dystrophy;10584:retinitis pigmentosa;11105:fundus albipunctatus 
976314, idh2, 0050575:D-2-hydroxyglutaric aciduria 
976386, cant1, 0060462:Desbuquois dysplasia 
976426, gpc4, 0060248:Simpson-Golabi-Behmel syndrome;2154:nephroblastoma 
976452, adam9, 0111020:cone-rod dystrophy 9 
976502, samhd1, 0050629:Aicardi-Goutieres syndrome;0060386:Chilblain lupus 
976622, dpm1, 0050570:congenital disorder of glycosylation type I 
976641, calm1, 0060678:catecholaminergic polymorphic ventricular tachycardia 4 
976889, rars2, 0060275:pontocerebellar hypoplasia type 6 
976954, cat.2, 2582:acatalasia 
977084, cyp4v2, 0050664:Bietti crystalline corneoretinal dystrophy 
977112, fmr1, 0050879:fragile X-associated tremor/ataxia syndrome;14261:fragile X syndrome;5426:premature ovarian failure 
977138, chrna1, 0080110:multiple pterygium syndrome;0110662:congenital myasthenic syndrome 1B;0110663:congenital myasthenic syndrome 1A 
977251, dlg3, 0050776:non-syndromic X-linked intellectual disability 
977281, acat1, 14723:beta-ketothiolase deficiency 
977325, rps7, 1339:Diamond-Blackfan anemia 
977342, pdhb, 3649:pyruvate decarboxylase deficiency 
977361, dvl3, 0060766:autosomal dominant Robinow syndrome 1 
977451, uqcrq, 0080111:mitochondrial complex III deficiency nuclear type 1 
977473, kif5c, 0090133:complex cortical dysplasia with other brain malformations 2 
977517, msh2, 0050465:Muir-Torre syndrome;3070:malignant glioma;3883:Lynch syndrome;8712:neurofibromatosis 
977582, g6pc3.1, 0050590:severe congenital neutropenia 
977669, phb, 1612:breast cancer 
977783, ass1, 9273:citrullinemia 
977813, spr, 0111168:sepiapterin reductase deficiency 
977902, hps1, 0060539:Hermansky-Pudlak syndrome 1 
977980, xpa, 0110843:xeroderma pigmentosum group A 
978018, scn1a, 0060170:generalized epilepsy with febrile seizures plus;0060171:Dravet syndrome;0060178:familial hemiplegic migraine;2481:infantile epileptic encephalopathy 
978041, fancl, 0111082:Fanconi anemia complementation group L 
978215, dusp6, 0090078:hypogonadotropic hypogonadism 7 with or without anosmia;0090090:hypogonadotropic hypogonadism 19 with or without anosmia 
978241, gdap1, 0110167:Charcot-Marie-Tooth disease axonal type 2K;0110185:Charcot-Marie-Tooth disease type 4A 
978265, ccdc6, 3969:papillary thyroid carcinoma 
978274, dlg5, 0110892:inflammatory bowel disease 1 
978428, gns, 12801:mucopolysaccharidosis III 
978452, cybb, 3265:chronic granulomatous disease 
978490, sumo1, 0050567:orofacial cleft 
978788, mgat2, 0050571:congenital disorder of glycosylation type II 
978807, lim2, 0110263:cataract 19 multiple types 
978819, wfs1, 0110584:autosomal dominant nonsyndromic deafness 6;0110629:Wolfram syndrome 1;9352:type 2 diabetes mellitus 
978834, spg21, 0060245:Mast syndrome 
978846, mtfmt, 0060286:combined oxidative phosphorylation deficiency 
978895, twnk, 0050556:infantile onset spinocerebellar ataxia;0080121:mitochondrial DNA depletion syndrome 3 
978984, mmaa, 0060742:methylmalonic acidemia cb1A type 
978998, kif11, 0060349:microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 
979087, bbs1, 0110123:Bardet-Biedl syndrome 1 
979149, habp2, 2452:thrombophilia 
979183, ikbkg, 12305:Bloch-Sulzberger syndrome;14793:hypohidrotic ectodermal dysplasia 
979206, hdc, 11119:Gilles de la Tourette syndrome 
979242, pofut1, 0060256:Dowling-Degos disease 
979280, myo1a, 0110571:autosomal dominant nonsyndromic deafness 48 
979299, lbr, 9631:Pelger-Huet anomaly 
979354, znf644, 11830:myopia 
979544, ccno, 0110600:primary ciliary dyskinesia 29 
979607, rpl21, 0110709:hypotrichosis 12 
979685, chrne, 0110662:congenital myasthenic syndrome 1B;0110663:congenital myasthenic syndrome 1A;0110679:congenital myasthenic syndrome 4C 
979722, agk, 0080132:Sengers syndrome;0110245:cataract 38 
979734, bin1, 14717:centronuclear myopathy 
979987, rad54l, 0060060:non-Hodgkin lymphoma;1612:breast cancer 
980058, hspd1, 0060789:hypomyelinating leukodystrophy 4;0110766:hereditary spastic paraplegia 13 
980089, ermard, 0050454:periventricular nodular heterotopia 
980106, grm1, 0080062:autosomal recessive spinocerebellar ataxia 13 
980143, ndufaf6, 3652:Leigh disease 
980160, cthrc1, 9206:Barrett's esophagus 
980230, c8a, 0060301:type I complement component 8 deficiency 
980341, cngb1, 10584:retinitis pigmentosa 
980390, hydin, 0110617:primary ciliary dyskinesia 5 
980395, lcat, 1391:Norum disease 
980452, bfsp1, 0110264:cataract 33 
980509, gbe1, 2750:glycogen storage disease IV 
980526, robo2, 9620:vesicoureteral reflux 
980531, abcb7, 0050554:X-linked sideroblastic anemia with ataxia 
980549, arhgef9, 0050709:Ohtahara syndrome;2481:infantile epileptic encephalopathy 
980567, atrx, 0110030:alpha thalassemia-X-linked intellectual disability syndrome 
980578, slc16a2, 0050631:Allan-Herndon-Dudley syndrome 
980610, dhtkd1, 0110170:Charcot-Marie-Tooth disease axonal type 2Q 
980647, cep41, 0110980:Joubert syndrome 1;0110984:Joubert syndrome 15 
980794, ess2, 12583:velocardiofacial syndrome 
980811, bcr, 8552:chronic myeloid leukemia 
980896, scnn1g, 0050477:Liddle syndrome;0060854:autosomal recessive pseudohypoaldosteronism type 1 
981051, fat4, 0060238:Van Maldergem syndrome 
981143, slc6a4l, 2030:anxiety disorder 
981187, pigr, 2986:IgA glomerulonephritis 
981207, pln, 0110439:dilated cardiomyopathy 1P 
981264, cfh, 0060746:basal laminar drusen;0110017:age related macular degeneration 4 
981380, vps33b, 0050763:ARC syndrome 
981624, abcg8, 0090019:sitosterolemia 
981634, prepl, 0060858:hypotonia-cystinuria syndrome 
981680, tbc1d24.1, 0110532:autosomal recessive nonsyndromic deafness 86 
981705, tsc2, 13515:tuberous sclerosis 
981722, slx4, 0111092:Fanconi anemia complementation group P 
981845, lmbr1, 0050603:acheiropody;11193:syndactyly;1148:polydactyly 
981974, snrnp200, 0110366:retinitis pigmentosa 33 
981991, gck, 0050524:maturity-onset diabetes of the young;0060639:permanent neonatal diabetes mellitus;0111100:maturity-onset diabetes of the young type 2;13317:hyperinsulinemic hypoglycemia;9352:type 2 diabetes mellitus 
982086, gpc3, 0060248:Simpson-Golabi-Behmel syndrome;2154:nephroblastoma 
982143, atxn1, 0050954:spinocerebellar ataxia type 1 
982202, btd, 856:biotinidase deficiency 
982273, rpgr, 0110414:retinitis pigmentosa 3;0111008:X-linked cone-rod dystrophy 1 
982299, otc, 9271:ornithine carbamoyltransferase deficiency 
982323, ano6, 0111052:Scott syndrome 
982365, coch, 0110593:autosomal dominant nonsyndromic deafness 9 
982533, dlat, 3649:pyruvate decarboxylase deficiency 
982560, blm, 2717:Bloom syndrome 
982585, cln6, 0110729:neuronal ceroid lipofuscinosis 6 
982604, bola3, 0080134:multiple mitochondrial dysfunctions syndrome 2 
982644, ampd2, 0060278:pontocerebellar hypoplasia type 9;0110814:hereditary spastic paraplegia 63 
982742, itga2, 0111045:platelet-type bleeding disorder 9 
982766, scn4a, 14451:hyperkalemic periodic paralysis;14452:hypokalemic periodic paralysis 
982842, reln, 0060748:familial temporal lobe epilepsy 1;0060902:Norman-Roberts syndrome 
982850, dld, 3652:Leigh disease;9269:maple syrup urine disease 
982867, retreg1, 0070150:hereditary sensory and autonomic neuropathy type 2B 
982872, slc6a3, 1094:attention deficit hyperactivity disorder 
982902, pdss1, 0050730:coenzyme Q10 deficiency disease 
982926, armc4, 0110609:primary ciliary dyskinesia 23 
983055, fbln5, 0070130:autosomal dominant cutis laxa 1;0070135:autosomal recessive cutis laxa type IA;3144:cutis laxa 
983071, gfm1, 0060286:combined oxidative phosphorylation deficiency 
983103, kcnh2, 0050793:short QT syndrome 
983161, nek1, 0110092:short-rib thoracic dysplasia 6 with or without polydactyly 
983223, slc19a3, 0050659:biotin-responsive basal ganglia disease 
983244, gsdme, 0110575:autosomal dominant nonsyndromic deafness 5 
983284, ddc, 0090123:aromatic L-amino acid decarboxylase deficiency 
983417, gucy1a1, 13099:Moyamoya disease 
983490, lamb3, 0060737:junctional epidermolysis bullosa Herlitz type;0060738:junctional epidermolysis bullosa non-Herlitz type 
983509, pitpnm3, 0111010:cone-rod dystrophy 5 
983521, hip1, 10283:prostate cancer 
983542, rhag, 0050641:Rh deficiency syndrome 
983585, matr3, 0060212:amyotrophic lateral sclerosis type 21 
983639, tk2, 0080120:mitochondrial DNA depletion syndrome 2;0080121:mitochondrial DNA depletion syndrome 3 
983661, cdh15, 0070033:autosomal dominant non-syndromic intellectual disability 3 
983713, kif5a, 0110763:hereditary spastic paraplegia 10 
983721, syne2.2, 11726:Emery-Dreifuss muscular dystrophy 
983791, dnal1, 0110613:primary ciliary dyskinesia 16 
983823, sell, 2986:IgA glomerulonephritis 
983840, atf4, 10629:microphthalmia 
983911, rpl5, 1339:Diamond-Blackfan anemia 
983981, impg2, 0110371:retinitis pigmentosa 56 
984010, taf15, 6496:extraskeletal myxoid chondrosarcoma 
984031, ca4, 0110404:retinitis pigmentosa 17 
984100, edaradd, 14793:hypohidrotic ectodermal dysplasia 
984173, chat, 0110671:congenital myasthenic syndrome 6 
984403, hgsnat, 12801:mucopolysaccharidosis III 
984408, pomk, 0050588:muscular dystrophy-dystroglycanopathy 
984424, kl, 0111063:hyperphosphatemic familial tumoral calcinosis 
984452, masp1, 0060575:3MC syndrome 1 
984491, ccdc50, 0110569:autosomal dominant nonsyndromic deafness 44 
984503, slc35c1, 0050571:congenital disorder of glycosylation type II;6612:leukocyte adhesion deficiency 
984582, rb1cc1, 1612:breast cancer 
984605, dsg2, 0110081:arrhythmogenic right ventricular dysplasia 10 
984633, lama3, 0060737:junctional epidermolysis bullosa Herlitz type;0060738:junctional epidermolysis bullosa non-Herlitz type 
984653, npc1, 0070113:Niemann-Pick disease type C1 
984684, faslg, 1324:lung cancer;6688:autoimmune lymphoproliferative syndrome;9074:systemic lupus erythematosus 
984726, glis3, 0060638:neonatal diabetes mellitus with congenital hypothyroidism 
984729, fxn, 12705:Friedreich ataxia 
984749, htr1a, 9620:vesicoureteral reflux 
984800, fancd2, 0111083:Fanconi anemia complementation group D2 
984836, prss12, 0060308:autosomal recessive non-syndromic intellectual disability 
984958, nf2, 3204:neurilemmomatosis;8712:neurofibromatosis 
984992, trim37, 0050436:mulibrey nanism 
985148, tmem67, 0070117:Meckel syndrome 3;0110123:Bardet-Biedl syndrome 1;0111001:Joubert syndrome 6 
985171, matn3, 12721:multiple epiphyseal dysplasia 
985174, wdr35, 0050577:Sensenbrenner syndrome;0110090:short-rib thoracic dysplasia 7 with or without polydactyly 
985231, itga7, 0110639:congenital muscular dystrophy due to integrin alpha-7 deficiency 
985355, cib2, 0110505:autosomal recessive nonsyndromic deafness 48;0110836:Usher syndrome type 1J 
985414, pex1, 0050444:infantile Refsum disease;10582:Refsum disease;10588:adrenoleukodystrophy;905:Zellweger syndrome 
985510, srd5a3, 0050570:congenital disorder of glycosylation type I;0050807:Kahrizi syndrome 
985593, prph2, 0050661:vitelliform macular dystrophy;0060866:patterned macular dystrophy 1;0110383:retinitis pigmentosa 7;11105:fundus albipunctatus 
985614, syt14, 0080063:autosomal recessive spinocerebellar ataxia 11 
985697, manba, 3633:beta-mannosidosis 
985727, tacr3, 0090071:hypogonadotropic hypogonadism 11 with or without anosmia 
985829, mccc2, 0050710:3-Methylcrotonyl-CoA carboxylase deficiency 
985840, ick, 0060641:endocrine-cerebro-osteodysplasia syndrome 
985870, med12, 14711:FG syndrome 
985987, fezf1, 0090078:hypogonadotropic hypogonadism 7 with or without anosmia 
986036, fancc, 0111087:Fanconi anemia complementation group C 
986140, nectin1, 0060773:cleft lip-palate-ectodermal dysplasia syndrome 
986220, htr2a, 0050741:alcohol dependence;1595:endogenous depression;5419:schizophrenia 
986225, itm2b, 0070029:ITM2B-related cerebral amyloid angiopathy 1;0070030:ITM2B-related cerebral amyloid angiopathy 2 
986277, alg3, 0050570:congenital disorder of glycosylation type I 
986285, eif2b5, 0060868:leukoencephalopathy with vanishing white matter 
986302, klf6, 10283:prostate cancer;10534:stomach cancer 
986413, card9, 2058:chronic mucocutaneous candidiasis 
986625, rasgrp2, 0111051:platelet-type bleeding disorder 18 
986637, msh6, 1380:endometrial cancer 
986646, fshr, 14450:46 XX gonadal dysgenesis;5425:ovarian hyperstimulation syndrome 
986666, epcam, 0060776:congenital diarrhea 5 with tufting enteropathy;3883:Lynch syndrome 
986683, ccdc40, 0110623:primary ciliary dyskinesia 15 
986712, mc3r, 9970:obesity 
986759, pcdh15, 0110481:autosomal recessive nonsyndromic deafness 23;0110831:Usher syndrome type 1D;0110832:Usher syndrome type 1F 
986762, papss2, 0050812:spondyloepimetaphyseal dysplasia, Pakistani type 
986795, adamtsl4, 0111149:autosomal recessive isolated ectopia lentis 2 
986804, idua, 0060222:Scheie syndrome;12802:mucopolysaccharidosis I 
986814, ercc4, 0060590:XFE progeroid syndrome;0110848:xeroderma pigmentosum group F 
986839, slc6a8, 0050800:creatine transporter deficiency 
986853, sptan1, 0050709:Ohtahara syndrome;2481:infantile epileptic encephalopathy 
986901, hsd17b10, 0060810:syndromic X-linked intellectual disability type 10 
986913, tor1a, 0060730:torsion dystonia 1 
986929, tgm5, 0060283:peeling skin syndrome 
986934, slc4a1, 0110919:hereditary spherocytosis type 4;14219:renal tubular acidosis 
986941, g6pc3.2, 0050590:severe congenital neutropenia 
986947, mapt, 11870:Pick's disease;14330:Parkinson's disease;678:progressive supranuclear palsy;9255:frontotemporal dementia 
986961, taco1, 3762:cytochrome-c oxidase deficiency disease 
986968, pyy, 9970:obesity 
987030, cep57, 0080142:mosaic variegated aneuploidy syndrome 2 
987054, tmc1, 0110520:autosomal recessive nonsyndromic deafness 7;0110563:autosomal dominant nonsyndromic deafness 36 
987087, dock8, 0070032:autosomal dominant non-syndromic intellectual disability 2 
987117, hyal1, 0050809:mucopolysaccharidosis IX 
987207, ap3b1, 0060540:Hermansky-Pudlak syndrome 2 
987315, rcbtb1, 0050741:alcohol dependence 
987397, f5, 2216:factor V deficiency;6713:cerebrovascular disease 
987475, asl, 14755:argininosuccinic aciduria 
987495, auts2, 0070056:autosomal dominant non-syndromic intellectual disability 26 
987502, kctd7, 891:progressive myoclonus epilepsy 
987625, rai1, 0060768:Smith-Magenis syndrome 
987669, psmc3ip, 14450:46 XX gonadal dysgenesis 
987794, ascc1, 9206:Barrett's esophagus 
987973, jph3, 0090104:Huntington disease-like 2 
987981, tsc1, 13515:tuberous sclerosis 
988074, alms1, 0050473:Alstrom syndrome 
988181, enpp1, 0050644:arterial calcification of infancy;0060887:ossification of the posterior longitudinal ligament of spine;9352:type 2 diabetes mellitus;9970:obesity 
988220, ap4e1, 0110803:hereditary spastic paraplegia 51 
988247, pank2, 3981:pantothenate kinase-associated neurodegeneration 
988320, irf4, 9538:multiple myeloma 
988438, myo5b, 0060775:microvillus inclusion disease 
988465, cfap53, 0050545:visceral heterotaxy 
988512, itgb2, 0110910:leukocyte adhesion deficiency 1 
988562, ehhadh, 1062:Fanconi syndrome 
988577, tyr, 0050632:oculocutaneous albinism;0070094:oculocutaneous albinism type IA;0070095:oculocutaneous albinism type IB;0090100:ocular albinism with sensorineural deafness 
988585, h6pd, 0090141:cortisone reductase deficiency 1 
988608, cep152, 0070012:Seckel syndrome 5 
988654, d2hgdh, 0050575:D-2-hydroxyglutaric aciduria 
988754, pde6a, 0110379:retinitis pigmentosa 43 
988818, abcb11, 1852:intrahepatic cholestasis 
988823, nsd2, 0050460:Wolf-Hirschhorn syndrome 
988874, nt5c2, 0110797:hereditary spastic paraplegia 45 
988964, slc17a8, 0110555:autosomal dominant nonsyndromic deafness 25 
988986, mypn, 0110445:dilated cardiomyopathy 1KK;397:restrictive cardiomyopathy 
989046, ccdc39, 0110598:primary ciliary dyskinesia 14 
989057, opa1, 5723:optic atrophy 
989093, smoc1, 0060861:microphthalmia with limb anomalies 
989205, nsd1, 14731:Weaver syndrome;14748:Sotos syndrome;5572:Beckwith-Wiedemann syndrome;9119:acute myeloid leukemia 
989254, oca2, 0050632:oculocutaneous albinism;0070096:oculocutaneous albinism type II 
989275, myh3, 0050646:distal arthrogryposis 
989358, p3h1, 0110336:osteogenesis imperfecta type 8 
989399, tmem70, 0050768:mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 
989417, itgbl1, 8398:osteoarthritis 
989432, ank3, 0060308:autosomal recessive non-syndromic intellectual disability 
989443, crygd, 0110234:cataract 4 multiple types 
989453, pikfyve, 0060448:Fleck corneal dystrophy 
989520, sec63, 0050770:polycystic liver disease 
989540, ostm1, 0110939:autosomal recessive osteopetrosis 5;0110942:autosomal recessive osteopetrosis 1 
989573, plce1, 1184:nephrotic syndrome 
989583, hpse2, 0050816:urofacial syndrome 
989602, cox15, 3652:Leigh disease 
989612, vps13a, 0050766:chorea-acanthocytosis 
989641, gphn, 0060696:hyperekplexia 1;0111164:molybdenum cofactor deficiency type A 
989668, whrn, 0110490:autosomal recessive nonsyndromic deafness 31;0110840:Usher syndrome type 2D 
989770, dcaf8, 0090069:giant axonal neuropathy 2 
989848, eif2ak3, 0090060:Wolcott-Rallison syndrome 
989886, card14, 8893:psoriasis;9212:pityriasis rubra pilaris 
989943, ecel1, 0050646:distal arthrogryposis 
989974, chrnd, 0080110:multiple pterygium syndrome;0110662:congenital myasthenic syndrome 1B;0110663:congenital myasthenic syndrome 1A 
990004, rubcn, 0080057:autosomal recessive spinocerebellar ataxia 15 
990009, chrng, 0080110:multiple pterygium syndrome 
990047, lamc2, 0060737:junctional epidermolysis bullosa Herlitz type;0060738:junctional epidermolysis bullosa non-Herlitz type 
990074, kiss1r, 0090078:hypogonadotropic hypogonadism 7 with or without anosmia 
990129, abhd12, 0080181:PHARC syndrome 
990214, drd4, 1094:attention deficit hyperactivity disorder;14330:Parkinson's disease 
990377, nek8, 0060259:renal-hepatic-pancreatic dysplasia;0111120:nephronophthisis 9 
990391, best1, 0050661:vitelliform macular dystrophy;0050662:bestrophinopathy 
990416, ifitm5, 0110344:osteogenesis imperfecta type 5 
990419, sdhaf2, 0050773:paraganglioma 
990499, p2rx7, 1040:chronic lymphocytic leukemia 
990684, dgke, 1184:nephrotic syndrome 
990804, spart, 0050886:Troyer syndrome 
990891, rdx, 0110482:autosomal recessive nonsyndromic deafness 24 
990957, dlec1, 1324:lung cancer;5041:esophageal cancer 
990994, rapsn, 0110679:congenital myasthenic syndrome 4C 
991084, pah, 9281:phenylketonuria 
991122, cacna2d4, 0050795:cone dystrophy 
991125, cacna1c, 0060173:Timothy syndrome;0110220:Brugada syndrome 3 
991258, xpc, 0110844:xeroderma pigmentosum group C 
991429, slc24a1, 0110868:congenital stationary night blindness 1D 
991467, kbtbd13, 0110935:nemaline myopathy 6 
991482, tshr, 7998:hyperthyroidism 
991488, ocrl, 0050699:Dent disease;1056:oculocerebrorenal syndrome 
991742, pof1b, 5426:premature ovarian failure 
991800, sacs, 0050946:Charlevoix-Saguenay spastic ataxia 
991851, mlh3, 1380:endometrial cancer;9256:colorectal cancer 
991974, elp4, 12271:aniridia 
992091, dcx, 0050453:lissencephaly 
992131, mthfd1, 0080074:neural tube defect 
992147, ltbp4, 0070139:autosomal recessive cutis laxa type IC;3144:cutis laxa 
992154, itpkc, 13378:Kawasaki disease 
992238, vipas39, 0050763:ARC syndrome 
992382, slc35d1, 0050775:schneckenbecken dysplasia 
992452, myh7, 0060253:scapuloperoneal myopathy;0080102:congenital fiber-type disproportion;0110307:hypertrophic cardiomyopathy 1;11720:distal muscular dystrophy 
992518, drd5, 1094:attention deficit hyperactivity disorder;529:blepharospasm 
992543, evc, 12714:Ellis-Van Creveld syndrome 
992619, dock6, 0060227:Adams-Oliver syndrome 
992649, nfix, 0050858:Marshall-Smith syndrome;14748:Sotos syndrome 
992717, ciita, 5812:MHC class II deficiency;7148:rheumatoid arthritis 
992740, grin2a, 2538:Landau-Kleffner syndrome 
992874, wrn, 5688:Werner syndrome 
992884, aldh1a3, 0060841:isolated microphthalmia 8 
992966, iba57, 0080135:multiple mitochondrial dysfunctions syndrome 3 
993051, opn1sw, 11661:blue color blindness 
993110, pex14, 905:Zellweger syndrome 
993190, npr2, 0080050:acromesomelic dysplasia, Maroteaux type 
993272, ndrg1, 0110186:Charcot-Marie-Tooth disease type 4D 
993288, chst3, 0050813:spondyloepiphyseal dysplasia with congenital joint dislocations 
993291, wdr11, 0090078:hypogonadotropic hypogonadism 7 with or without anosmia;3070:malignant glioma 
993327, rtf1, 0050570:congenital disorder of glycosylation type I 
993367, nmnat1, 0110005:Leber congenital amaurosis 9 
993407, xylt2, 2738:pseudoxanthoma elasticum 
993450, rfxap, 5812:MHC class II deficiency 
993454, phf8, 0060812:syndromic X-linked intellectual disability Siderius type 
993561, cstb, 3535:Unverricht-Lundborg syndrome 
993784, pccb, 14701:propionic acidemia 
993851, slc6a5, 0060696:hyperekplexia 1 
994031, mpdz, 10908:hydrocephalus 
994038, sra1, 0090078:hypogonadotropic hypogonadism 7 with or without anosmia 
994076, gpr179, 0110869:congenital stationary night blindness 1E 
994159, comp, 0080047:pseudoachondroplasia;12721:multiple epiphyseal dysplasia 
994243, topors, 0110391:retinitis pigmentosa 31 
994257, upf3b, 0060821:syndromic X-linked intellectual disability 14 
994343, trim24, 3969:papillary thyroid carcinoma 
994353, fbxo7, 0060372:autosomal recessive early-onset Parkinson disease 15 
994490, phka2, 0111042:glycogen storage disease IXa 
994521, tbx22, 0060613:X-linked cleft palate with or without ankyloglossia 
994579, tmprss3, 0110527:autosomal recessive nonsyndromic deafness 8 
994618, eogt, 0060227:Adams-Oliver syndrome 
994627, scn1b, 0060170:generalized epilepsy with febrile seizures plus 
994674, crh, 0080150:adrenocorticotropic hormone deficiency 
994727, phkg2, 0111043:glycogen storage disease IXc 
994836, bckdk, 0090126:branched-chain keto acid dehydrogenase kinase deficiency 
994893, lrsam1, 0110169:Charcot-Marie-Tooth disease axonal type 2P 
994975, pde8b, 0060280:primary pigmented nodular adrenocortical disease;4751:striatonigral degeneration 
994992, ildr1, 0110500:autosomal recessive nonsyndromic deafness 42 
995002, taf4b, 14227:azoospermia 
995029, add1, 10825:essential hypertension 
995051, sh3bp2, 1856:cherubism 
995167, clcn7, 0110938:autosomal dominant osteopetrosis 2;0110942:autosomal recessive osteopetrosis 1;0110944:autosomal recessive osteopetrosis 4 
995305, ephx1, 10591:pre-eclampsia 
995332, glo1, 12849:autistic disorder 
995438, stag3, 5426:premature ovarian failure 
995560, rab3gap1, 0110716:Warburg micro syndrome 1 
995699, cldn14, 0110487:autosomal recessive nonsyndromic deafness 29 
995709, grn, 0060672:Grn-related frontotemporal lobar degeneration with Tdp43 inclusions 
995775, sorl1, 10652:Alzheimer's disease 
995808, ogg1, 0050387:nonpapillary renal cell carcinoma 
995987, tymp, 0080119:mitochondrial DNA depletion syndrome 1 
996012, hgd, 9270:alkaptonuria 
996060, bbs7, 0110123:Bardet-Biedl syndrome 1 
996079, tnfrsf1a, 0090018:autosomal dominant familial periodic fever 
996082, scnn1a, 0060854:autosomal recessive pseudohypoaldosteronism type 1 
996119, cavin1, 0111138:congenital generalized lipodystrophy type 4 
996130, atp1a3, 0090056:dystonia 12 
996139, itih4, 13810:familial hypercholesterolemia 
996191, nsmf, 0090078:hypogonadotropic hypogonadism 7 with or without anosmia 
996374, ywhae, 0060469:Miller-Dieker lissencephaly syndrome 
996387, polh, 0110847:xeroderma pigmentosum variant type 
996484, coasy, 0110740:neurodegeneration with brain iron accumulation 6 
996571, hcrt, 8986:narcolepsy 
996764, piga, 0060284:paroxysmal nocturnal hemoglobinuria;0080139:multiple congenital anomalies-hypotonia-seizures syndrome 2 
996786, prpf3, 0110356:retinitis pigmentosa 18 
996800, tars2, 0060286:combined oxidative phosphorylation deficiency 
996839, atp13a2, 0060556:Kufor-Rakeb syndrome 
996922, abcc8, 0060334:transient neonatal diabetes mellitus;0060639:permanent neonatal diabetes mellitus;13317:hyperinsulinemic hypoglycemia;9352:type 2 diabetes mellitus 
996930, ptpro, 1184:nephrotic syndrome 
996935, eps8, 0110463:autosomal recessive nonsyndromic deafness 102 
997012, gp9, 2217:Bernard-Soulier syndrome 
997154, kif1c, 0050941:spastic ataxia 2 
997224, adk, 0111038:hypermethioninemia due to adenosine kinase deficiency 
997236, mocs1, 0111164:molybdenum cofactor deficiency type A 
997245, blmh, 10652:Alzheimer's disease 
997313, cln3, 0110731:neuronal ceroid lipofuscinosis 3 
997324, tpp1, 0110726:neuronal ceroid lipofuscinosis 2 
997398, slc26a2, 0050648:atelosteogenesis;0080055:achondrogenesis type IB;12721:multiple epiphyseal dysplasia;14687:diastrophic dysplasia 
997412, col9a3, 12721:multiple epiphyseal dysplasia 
997487, ndufs3, 0060536:mitochondrial complex I deficiency;3652:Leigh disease 
997693, smpd1, 0070111:Niemann-Pick disease type A;0070112:Niemann-Pick disease type B 
997712, prpf6, 0110411:retinitis pigmentosa 60 
997730, eif2b4, 0060868:leukoencephalopathy with vanishing white matter 
997813, recql4, 0050654:Baller-Gerold syndrome;0050774:rapadilino syndrome;2732:Rothmund-Thomson syndrome 
997996, orc1, 0060306:Meier-Gorlin syndrome 
998105, pik3ca, 0111162:epidermal nevus;10534:stomach cancer;1324:lung cancer;1612:breast cancer;6498:seborrheic keratosis;684:hepatocellular carcinoma;9256:colorectal cancer 
998136, mutyh, 0050424:familial adenomatous polyposis;10534:stomach cancer;5374:pilomatrixoma 
998159, c8b, 0060302:type II complement component 8 deficiency 
998186, alg6, 0050570:congenital disorder of glycosylation type I 
998202, myf6, 11723:Duchenne muscular dystrophy;14717:centronuclear myopathy 
998505, lztr1, 3204:neurilemmomatosis 
998595, cox7b, 10629:microphthalmia 
998605, magt1, 0050776:non-syndromic X-linked intellectual disability 
998623, irf5, 0110895:inflammatory bowel disease 14 
998736, slitrk1, 11119:Gilles de la Tourette syndrome 
998836, col6a3, 0050558:Ullrich congenital muscular dystrophy;0050663:Bethlem myopathy 
998843, mlph, 0060834:Griscelli syndrome type 3 
998848, ugt1a1, 2739:Gilbert syndrome;3803:Crigler-Najjar syndrome 
998855, col6a1, 0050558:Ullrich congenital muscular dystrophy;0050663:Bethlem myopathy;0060887:ossification of the posterior longitudinal ligament of spine 
998864, elmod2, 0050156:idiopathic pulmonary fibrosis 
998875, mfsd8, 0110722:neuronal ceroid lipofuscinosis 7 
998882, mmab, 0060743:methylmalonic acidemia cb1B type 
998898, trpv4, 0050690:brachyolmia;0110182:Charcot-Marie-Tooth disease axonal type 2C 
998916, crybb1, 0110270:cataract 17 multiple types 
998931, cryba4, 0110271:cataract 23 
998942, dgcr6, 12583:velocardiofacial syndrome 
998968, pmm2, 0050570:congenital disorder of glycosylation type I 
999122, ncf1, 3265:chronic granulomatous disease 
999130, gm2a, 4795:Tay-Sachs disease AB variant 
999159, slc3a1, 0060858:hypotonia-cystinuria syndrome;9266:cystinuria 
999368, cnnm2, 0060884:renal hypomagnesemia 6 
999399, elmod3, 0110533:autosomal recessive nonsyndromic deafness 88 
999438, phf6, 0050681:Borjeson-Forssman-Lehmann syndrome 
999485, ap2s1, 0060702:familial hypocalciuric hypercalcemia 3 
999529, uros, 13271:cutaneous porphyria 
999540, tti2, 0060308:autosomal recessive non-syndromic intellectual disability 
999723, star, 0050811:congenital adrenal hyperplasia 
999943, ndufaf3, 0060536:mitochondrial complex I deficiency 
999991, hgf, 0110497:autosomal recessive nonsyndromic deafness 39 
1000031, slc26a5, 0110513:autosomal recessive nonsyndromic deafness 61 
1000106, galc, 10587:Krabbe disease 
1000121, ttc8, 0110123:Bardet-Biedl syndrome 1 
1000271, mrpl44, 0060286:combined oxidative phosphorylation deficiency 
1000282, mrps22, 0060286:combined oxidative phosphorylation deficiency 
1000397, gabra2, 0050741:alcohol dependence 
1000414, phox2b, 0060731:congenital central hypoventilation syndrome 
1000431, uchl1, 14330:Parkinson's disease 
1000464, lrat, 0110188:Leber congenital amaurosis 14;10584:retinitis pigmentosa 
1000475, ercc8, 2962:Cockayne syndrome 
1000547, pola1, 0050769:N syndrome 
1000590, galns, 12804:mucopolysaccharidosis IV 
1000615, fanca, 0111095:Fanconi anemia complementation group A 
1000683, pfkm, 11721:glycogen storage disease VII 
1000784, aco2, 0050883:infantile cerebellar-retinal degeneration 
1000801, dpyd, 14218:dihydropyrimidine dehydrogenase deficiency 
1000809, abca4, 0050817:Stargardt disease;0110015:age related macular degeneration 2;0110354:retinitis pigmentosa 19;0111013:cone-rod dystrophy 3 
1000976, rpl11, 1339:Diamond-Blackfan anemia 
1001003, mtr, 0050567:orofacial cleft;0080074:neural tube defect;14250:Down syndrome 
1001032, slc35a1, 0050571:congenital disorder of glycosylation type II 
1001118, abcb6, 0060304:dyschromatosis universalis hereditaria 
1001125, glb1, 12804:mucopolysaccharidosis IV;3322:gangliosidosis GM1 
1001137, lct.2, 10604:lactose intolerance 
1001142, abca1, 13810:familial hypercholesterolemia;1388:Tangier disease 
1001222, polr1d.1, 2908:Treacher Collins syndrome 
1001428, agl, 2748:glycogen storage disease III 
1001463, tyrp1, 0050632:oculocutaneous albinism;0070097:oculocutaneous albinism type III 
1001554, ift27, 0110123:Bardet-Biedl syndrome 1 
1001621, aga, 0050461:aspartylglucosaminuria 
1001718, nop10, 0070015:autosomal recessive dyskeratosis congenita 1 
1001789, pdlim4, 11476:osteoporosis 
1001869, serpinb6, 0110536:autosomal recessive nonsyndromic deafness 91 
1002029, mtm1, 14717:centronuclear myopathy 
1002041, stra6, 0050819:Matthew-Wood syndrome;10629:microphthalmia 
1002049, loxl1, 13641:exfoliation syndrome 
1002141, dhdds, 0110352:retinitis pigmentosa 59 
1002199, rd3, 0110080:Leber congenital amaurosis 12 
1002221, myh9, 0060651:MYH-9 related disease;0110548:autosomal dominant nonsyndromic deafness 17 
1002380, cartpt, 9970:obesity 
1002396, hexb, 3323:Sandhoff disease 
1002425, dst, 0070151:hereditary sensory and autonomic neuropathy type 6;4644:epidermolysis bullosa simplex 
1002595, fbp1, 5204:fructose-1,6-bisphosphatase deficiency 
1002678, dnase1l3, 9074:systemic lupus erythematosus 
1002731, ccdc65, 0110611:primary ciliary dyskinesia 27 
1002738, thpo, 2224:essential thrombocythemia 
1002815, tnc, 0110581:autosomal dominant nonsyndromic deafness 56 
1002842, pafah1b1, 0050453:lissencephaly;0060469:Miller-Dieker lissencephaly syndrome 
1002899, nfu1, 0080133:multiple mitochondrial dysfunctions syndrome 1 
1002955, cfl2, 0110934:nemaline myopathy 7 
1003053, tecr, 0060308:autosomal recessive non-syndromic intellectual disability 
1003153, dpm2, 0050570:congenital disorder of glycosylation type I 
1003263, gnat1, 0110715:congenital stationary night blindness autosomal dominant 3 
1003483, slc7a9, 9266:cystinuria 
1003505, sbds, 0060479:Shwachman-Diamond syndrome;12449:aplastic anemia 
1003541, zbtb18, 0070052:autosomal dominant non-syndromic intellectual disability 22 
1003589, flcn, 0050387:nonpapillary renal cell carcinoma;0050676:Birt-Hogg-Dube syndrome;9256:colorectal cancer 
1003643, gne, 3429:inclusion body myositis;3659:sialuria 
1003795, vrk1, 0060265:pontocerebellar hypoplasia type 1A 
1003891, lca5, 0110215:Leber congenital amaurosis 5 
1003993, med23, 0060308:autosomal recessive non-syndromic intellectual disability 
1004062, rfxank, 5812:MHC class II deficiency 
1004101, myo5a, 0060832:Griscelli syndrome type 1 
1004119, megf8, 0060234:Carpenter syndrome 
1004149, f13a1, 2211:factor XIII deficiency;2452:thrombophilia 
1004402, ppargc1b, 9970:obesity 
1004430, frem2, 0090001:Fraser syndrome 
1004442, rnaseh2b, 0050629:Aicardi-Goutieres syndrome 
1004467, sbf2, 0110190:Charcot-Marie-Tooth disease type 4B2 
1004769, lama4, 0110438:dilated cardiomyopathy 1JJ 
1004810, f12, 14735:hereditary angioedema;2231:factor XII deficiency 
1004832, nt5c3a, 583:hemolytic anemia 
1004857, pmp22, 0050540:Charcot-Marie-Tooth disease type 3;0060843:hereditary neuropathy with liability to pressure palsies;0110148:Charcot-Marie-Tooth disease type 1A;0110153:Charcot-Marie-Tooth disease type 1E 
1004879, sptlc1, 0070152:hereditary sensory and autonomic neuropathy type 1A 
1004993, idh1, 3070:malignant glioma 
1005055, zfyve26, 0110768:hereditary spastic paraplegia 15 
1005104, serpinh1, 0111144:preterm premature rupture of the membranes 
1005173, sgsh, 12801:mucopolysaccharidosis III 
1005315, park7, 0060370:autosomal recessive early-onset Parkinson disease 7 
1005346, piezo2, 0050646:distal arthrogryposis 
1005401, mthfr, 0050567:orofacial cleft;0080074:neural tube defect;2452:thrombophilia;5419:schizophrenia;9263:homocystinuria 
1005590, myo1e.1, 0111131:focal segmental glomerulosclerosis 6 
1005615, nde1, 0050453:lissencephaly 
1005706, oat.2, 1415:gyrate atrophy 
1005778, drd2, 0090034:myoclonic dystonia 11 
1006118, dguok, 0080121:mitochondrial DNA depletion syndrome 3 
1006199, otof, 0110535:autosomal recessive nonsyndromic deafness 9 
1006265, ctns, 1064:cystinosis 
1006361, alg1, 0050570:congenital disorder of glycosylation type I 
1006448, plod2, 0060231:Bruck syndrome 
1006487, sod1, 0060193:amyotrophic lateral sclerosis type 1 
1006523, col9a2, 12721:multiple epiphyseal dysplasia 
1006626, ndufa11, 0060536:mitochondrial complex I deficiency 
1006796, cyp17a1, 0050811:congenital adrenal hyperplasia 
1006823, pld3, 0110051:Alzheimer's disease 19 
1006846, prx, 0050540:Charcot-Marie-Tooth disease type 3 
1006905, pomt2, 0050560:Walker-Warburg syndrome 
1006993, ednra, 6364:migraine 
1007048, pabpn1, 11719:oculopharyngeal muscular dystrophy 
1007110, fkbp10, 0110351:osteogenesis imperfecta type 11 
1007277, hadh, 13317:hyperinsulinemic hypoglycemia 
1007289, cyp2u1, 0110808:hereditary spastic paraplegia 56 
1007366, b4gat1, 0050588:muscular dystrophy-dystroglycanopathy 
1007449, cyp2a6, 1324:lung cancer 
1007471, bckdha, 9269:maple syrup urine disease 
1007544, psap, 0110961:atypical Gaucher's disease due to saposin c deficiency;10581:metachromatic leukodystrophy 
1007617, ndufaf1, 0060536:mitochondrial complex I deficiency 
1007652, nipal4, 0060715:autosomal recessive congenital ichthyosis 6 
1007917, ercc6, 0060240:UV-sensitive syndrome;1324:lung cancer;2962:Cockayne syndrome 
1007973, rpgrip1, 0111016:cone-rod dystrophy 13 
1008006, dnajc21, 0060479:Shwachman-Diamond syndrome 
1008071, unc13d, 0110923:familial hemophagocytic lymphohistiocytosis 3 
1008077, acox1, 0050797:peroxisomal acyl-CoA oxidase deficiency 
1008098, rad21, 11725:Cornelia de Lange syndrome 
1008433, map3k1, 14448:46 XY gonadal dysgenesis 
1008464, ndufa1, 0060536:mitochondrial complex I deficiency 
1008561, mgme1, 0080129:mitochondrial DNA depletion syndrome 11 
1008568, prps1, 0050647:Arts syndrome;0110210:Charcot-Marie-Tooth disease X-linked recessive 5 
1008579, plp1, 0110773:hereditary spastic paraplegia 2;3210:Pelizaeus-Merzbacher disease 
1008595, gla, 14499:Fabry disease 
1008637, ncoa4, 3969:papillary thyroid carcinoma 
1008649, frg1, 11727:facioscapulohumeral muscular dystrophy 
1008676, ivd, 14753:isovaleric acidemia 
1008689, sptbn2, 0050882:spinocerebellar ataxia type 5 
1008757, thap1, 0090039:torsion dystonia 6 
1008798, rbp3, 0110393:retinitis pigmentosa 66;10584:retinitis pigmentosa 
1008840, hsd3b7, 0111071:congenital bile acid synthesis defect 1 
1008969, clp1, 0060279:pontocerebellar hypoplasia type 10 
1008981, ndufs7, 3652:Leigh disease 
1009050, ap1s1, 0060483:MEDNIK syndrome 
1009062, pex5, 10588:adrenoleukodystrophy;905:Zellweger syndrome 
1009101, rxylt1, 0050588:muscular dystrophy-dystroglycanopathy 
1009303, hlcs, 859:holocarboxylase synthetase deficiency 
1009306, vps26c, 14250:Down syndrome 
1009577, itga2b.1, 0060691:platelet-type bleeding disorder 16;2219:Glanzmann's thrombasthenia 
1009588, amacr, 0060602:alpha-methylacyl-CoA racemase deficiency;0111068:congenital bile acid synthesis defect 4 
1009681, atl3, 0070154:hereditary sensory neuropathy type 1F 
1009690, glud1, 13317:hyperinsulinemic hypoglycemia 
1009701, ndufs6, 0060536:mitochondrial complex I deficiency 
1009724, ophn1, 0050888:syndromic intellectual disability 
1009747, c19orf12, 0110738:neurodegeneration with brain iron accumulation 4;0110795:hereditary spastic paraplegia 43 
1009819, ercc3, 0110850:xeroderma pigmentosum group B;2960:photosensitive trichothiodystrophy 
1009839, mapk10, 0050561:Lennox-Gastaut syndrome 
1009900, polr1c, 2908:Treacher Collins syndrome 
1009953, crtap, 0110337:osteogenesis imperfecta type 7 
1009963, itgb3, 0060691:platelet-type bleeding disorder 16;2219:Glanzmann's thrombasthenia 
1010011, adgrv1, 0110839:Usher syndrome type 2C 
1010028, ppox, 4346:variegate porphyria 
1010080, ucp2, 9970:obesity 
1010169, csrp3, 0110318:hypertrophic cardiomyopathy 12;0110449:dilated cardiomyopathy 1M 
1010194, taz, 0050476:Barth syndrome 
1010205, cps1, 13042:persistent fetal circulation syndrome;9280:carbamoyl phosphate synthetase I deficiency disease 
1010300, alpl, 0110913:adult hypophosphatasia;0110914:infantile hypophosphatasia;0110915:childhood hypophosphatasia 
1010370, slc7a14, 0110374:retinitis pigmentosa 68 
1010419, phkb, 0111041:glycogen storage disease IXb 
1010431, hsd17b4, 0090031:D-bifunctional protein deficiency 
1010482, gria3, 0060823:syndromic X-linked intellectual disability 94 
1010488, atp7a, 1838:Menkes disease 
1010579, f13b, 2211:factor XIII deficiency 
1010598, kif21a, 0080143:congenital fibrosis of the extraocular muscles 
1010661, kcna1, 0050989:episodic ataxia type 1 
1010697, abca3, 12120:pulmonary alveolar proteinosis 
1010799, nhlrc1, 3534:Lafora disease 
1010833, usp9x, 0050776:non-syndromic X-linked intellectual disability 
1010840, bcor, 10629:microphthalmia 
1010856, bub1b, 0080141:mosaic variegated aneuploidy syndrome 1;9256:colorectal cancer 
1011013, lamb1, 0050453:lissencephaly 
1011020, ankh, 0080033:craniometaphyseal dysplasia;1156:chondrocalcinosis 
1011110, ifih1, 0110756:type 1 diabetes mellitus 19;12361:Graves' disease;7997:thyrotoxicosis 
1011133, gpd2, 9352:type 2 diabetes mellitus 
1011169, atg16l1, 0110885:inflammatory bowel disease 10 
1011225, mmut, 0060740:methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 
1011233, il17f, 2058:chronic mucocutaneous candidiasis 
1011236, efhc1, 4890:juvenile myoclonic epilepsy 
1011276, ankrd11, 14780:KBG syndrome 
1011285, ddit3, 5363:myxoid liposarcoma 
1011298, scn8a, 0050709:Ohtahara syndrome 
1011369, ofd1, 0060248:Simpson-Golabi-Behmel syndrome;0060316:orofaciodigital syndrome I 
1011379, ppm1d, 1612:breast cancer 
1011390, oprm1, 1827:idiopathic generalized epilepsy 
1011398, sos1, 0060466:gingival fibromatosis;0060582:Noonan syndrome 4 
1011413, rgr, 0110394:retinitis pigmentosa 44 
1011450, nrg1, 0070082:schizophrenia 6 
1011463, rxfp2, 11383:cryptorchidism 
1011543, slc1a1, 0070093:schizophrenia 18 
1011572, tmprss6, 11252:microcytic anemia 
1011597, pnp, 5813:purine nucleoside phosphorylase deficiency 
1011609, vps53, 0060271:pontocerebellar hypoplasia type 2E 
1011614, rgs9bp, 0050335:bradyopsia 
1011627, tcf4, 0060488:Pitt-Hopkins syndrome 
1011656, rdh5, 11105:fundus albipunctatus 
1011698, gad1.1, 10970:spastic quadriplegia 
1011733, glrb, 0060696:hyperekplexia 1 
1011747, mttp.1, 1386:abetalipoproteinemia;14221:metabolic syndrome X 
1011782, efnb1, 14737:craniofrontonasal syndrome 
1011795, fan1, 0060911:karyomegalic interstitial nephritis 
1011803, tmem231, 0110980:Joubert syndrome 1;0110989:Joubert syndrome 20 
1011827, tspan12, 0050535:exudative vitreoretinopathy 
1011869, c1qtnf5, 0060869:late-onset retinal degeneration 
1011877, tecta.1, 0110479:autosomal recessive nonsyndromic deafness 21;0110544:autosomal dominant nonsyndromic deafness 12 
1011958, trim32, 0110123:Bardet-Biedl syndrome 1;0110282:autosomal recessive limb-girdle muscular dystrophy type 2H 
1011979, arhgap26, 0050458:juvenile myelomonocytic leukemia 
1012023, lrrc8a, 2583:agammaglobulinemia 
1012038, ak1, 583:hemolytic anemia 
1012075, trpc6, 0111129:focal segmental glomerulosclerosis 2 
1012124, arl11, 1040:chronic lymphocytic leukemia 
1012149, lyst, 2935:Chediak-Higashi syndrome 
1012155, b3galnt2, 0050588:muscular dystrophy-dystroglycanopathy 
1012187, kcnj2, 0050434:Andersen-Tawil syndrome;0050793:short QT syndrome 
1012191, cog1, 0050571:congenital disorder of glycosylation type II 
1012201, sept9, 10383:amyotrophic neuralgia 
1012246, phex, 0050445:X-linked hypophosphatemic rickets 
1012302, myo6, 0110495:autosomal recessive nonsyndromic deafness 37;0110552:autosomal dominant nonsyndromic deafness 22 
1012311, itpr3, 9744:type 1 diabetes mellitus 
1012343, wdr72, 0110061:amelogenesis imperfecta hypomaturation type 2A3 
1012377, zfyve27, 0110784:hereditary spastic paraplegia 33 
1012402, ano3, 0090052:dystonia 24 
1012454, cacnb4, 1827:idiopathic generalized epilepsy 
1012479, orc4, 0060306:Meier-Gorlin syndrome 
1012536, efemp1, 0060745:Doyne honeycomb retinal dystrophy 
1012539, stox1, 10591:pre-eclampsia 
1012637, grk1, 0110712:Oguchi disease-1 
1012658, herc2, 11983:Prader-Willi syndrome 
1012701, kera, 0060287:cornea plana 
1012721, atr, 0070007:Seckel syndrome 1 
1012748, polr3a, 0060794:hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 
1012758, rims1, 0111012:cone-rod dystrophy 7 
1012795, abcc2, 12308:Dubin-Johnson syndrome 
1012825, hsd11b2, 0090121:apparent mineralocorticoid excess 
1012863, slc25a22, 0050709:Ohtahara syndrome;2481:infantile epileptic encephalopathy 
1012932, atp2a2, 0050606:acrokeratosis verruciformis;2734:keratosis follicularis 
1013017, dcdc2, 4428:dyslexia 
1013035, cenpj, 10907:microcephaly 
1013053, plcd1, 0080081:nonsyndromic congenital nail disorder 3 
1013087, gan, 0090068:giant axonal neuropathy 1 
1013199, ngf, 0070145:hereditary sensory and autonomic neuropathy type 5 
1013330, slc25a13, 9273:citrullinemia 
1013409, sts, 1700:X-linked ichthyosis 
1013421, tgm1, 0060656:autosomal recessive congenital ichthyosis 1;0060710:autosomal recessive congenital ichthyosis 2;1699:congenital ichthyosiform erythroderma 
1013461, htt, 12858:Huntington's disease 
1013491, ntf4, 1067:open-angle glaucoma 
1013508, ryr1, 0080102:congenital fiber-type disproportion;3529:central core myopathy 
1013528, efemp2, 0070135:autosomal recessive cutis laxa type IA;3144:cutis laxa 
1013543, sbf1, 0110194:Charcot-Marie-Tooth disease type 4B3 
1013576, pex13, 10588:adrenoleukodystrophy;905:Zellweger syndrome 
1013590, kif1b, 0050771:phaeochromocytoma;0110154:Charcot-Marie-Tooth disease type 2A1 
1013606, ush1g, 0110834:Usher syndrome type 1G 
1013620, clint1, 0070077:schizophrenia 1 
1013661, itgb4, 0060733:junctional epidermolysis bullosa with pyloric atresia;0060738:junctional epidermolysis bullosa non-Herlitz type 
1013666, trps1, 14743:trichorhinophalangeal syndrome type I;4998:trichorhinophalangeal syndrome type II 
1013714, fermt3, 0110912:leukocyte adhesion deficiency 3 
1013764, tcap, 0110281:autosomal recessive limb-girdle muscular dystrophy type 2G;0110328:hypertrophic cardiomyopathy 25 
1013830, cacna1a, 0050956:spinocerebellar ataxia type 6;0050990:episodic ataxia type 2;0060178:familial hemiplegic migraine 
1013839, cacna1f, 0050630:Aland Island eye disease;0110871:congenital stationary night blindness 2A;0111007:X-linked cone-rod dystrophy 3 
1013861, cdan1, 1338:congenital dyserythropoietic anemia 
1013892, chrna2, 0060685:autosomal dominant nocturnal frontal lobe epilepsy 4 
1013917, srgap1, 3962:follicular thyroid carcinoma 
1013936, ccm2, 0060670:cerebral cavernous malformation 2 
1013988, cyp2r1, 10609:rickets 
1014030, arsa.2, 10581:metachromatic leukodystrophy 
1014069, msh3, 1380:endometrial cancer 
1014101, gucy2d, 0110078:Leber congenital amaurosis 1;0111010:cone-rod dystrophy 5;0111011:cone-rod dystrophy 6 
1014190, snca, 0060367:autosomal dominant Parkinson disease 1;0060895:autosomal dominant Parkinson disease 4;12217:Lewy body dementia 
1014201, braf, 0060233:cardiofaciocutaneous syndrome;0060578:Noonan syndrome 1;1324:lung cancer 
1014217, ece1, 10825:essential hypertension 
1014227, znf513, 0110362:retinitis pigmentosa 58 
1014330, gtf2h5, 2960:photosensitive trichothiodystrophy 
1014426, hint1, 0050526:Gamstorp-Wohlfart syndrome 
1014459, arl13b, 0111003:Joubert syndrome 8 
1014565, slc16a1, 13317:hyperinsulinemic hypoglycemia 
1014656, lrpprc, 3652:Leigh disease 
1014678, hprt1, 1919:Lesch-Nyhan syndrome 
1014699, bloc1s3, 0060539:Hermansky-Pudlak syndrome 1 
1014724, cask, 0060807:syndromic X-linked intellectual disability Najm type;2861:congenital nonspherocytic hemolytic anemia 
1014748, pigt, 0060284:paroxysmal nocturnal hemoglobinuria;0080140:multiple congenital anomalies-hypotonia-seizures syndrome 3 
1014824, golga5, 3969:papillary thyroid carcinoma 
1014835, ift80, 0110086:asphyxiating thoracic dystrophy 2 
1014859, ispd, 0050588:muscular dystrophy-dystroglycanopathy 
1014887, cdt1, 0060306:Meier-Gorlin syndrome 
1014985, pex12, 0050444:infantile Refsum disease;10582:Refsum disease 
1015026, bcs1l, 0050677:Bjornstad syndrome;0080111:mitochondrial complex III deficiency nuclear type 1;3652:Leigh disease 
1015056, slc20a2, 0060230:basal ganglia calcification 
1015067, aptx, 0050730:coenzyme Q10 deficiency disease;0050754:ataxia with oculomotor apraxia type 1 
1015081, b4galt1.2, 0050571:congenital disorder of glycosylation type II 
1015142, rft1, 0050570:congenital disorder of glycosylation type I 
1015190, rad51c, 0111096:Fanconi anemia complementation group O 
1015380, tctn2, 0070122:Meckel syndrome 8;0110980:Joubert syndrome 1 
1015697, pex7, 0110851:rhizomelic chondrodysplasia punctata type 1;10582:Refsum disease 
1015706, lmbrd1, 0050717:methylmalonic aciduria and homocystinuria type cblF 
1015768, dag1, 0110293:autosomal recessive limb-girdle muscular dystrophy type 2P 
1015786, tmem237, 0110980:Joubert syndrome 1;0110983:Joubert syndrome 14 
1015956, pik3r5, 0060557:ataxia with oculomotor apraxia type 3 
1016002, cbfb, 9119:acute myeloid leukemia 
1016012, psat1, 0050723:PSAT deficiency 
1016045, pycr1, 0070137:autosomal recessive cutis laxa type IIB;3144:cutis laxa 
1016057, rpl35a, 1339:Diamond-Blackfan anemia 
1016213, rps29, 1339:Diamond-Blackfan anemia 
1016249, aspa, 3613:Canavan disease 
1016349, sem1, 0090021:split hand-foot malformation 1 
1016372, rps17, 1339:Diamond-Blackfan anemia 
1016596, plekha1, 0110014:age related macular degeneration 1 
1016617, pex2, 0050444:infantile Refsum disease;10582:Refsum disease 
1016740, xrcc3, 1612:breast cancer 
1016829, zdhhc9, 0060824:syndromic X-linked intellectual disability Raymond type 
1016880, rad51, 1612:breast cancer 
1017029, litaf, 0110151:Charcot-Marie-Tooth disease type 1C 
1017104, dyrk1a, 0070037:autosomal dominant non-syndromic intellectual disability 7 
1018148, rag2, 0060010:Omenn syndrome;0090013:severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive 
1018164, rb1, 11054:urinary bladder cancer;3347:osteosarcoma;768:retinoblastoma 
1018212, calr, 2224:essential thrombocythemia;4971:myelofibrosis 
1018230, tbx3, 0060614:ulnar-mammary syndrome 
1018295, fgfr2, 0050331:LADD syndrome;0050462:Antley-Bixler syndrome;0050660:Beare-Stevenson cutis gyrata syndrome;10534:stomach cancer;12960:acrocephalosyndactylia;14705:Pfeiffer syndrome;14768:Saethre-Chotzen syndrome;2339:Crouzon syndrome 
1018316, pth, 11199:hypoparathyroidism 
1018321, msmb.1, 10283:prostate cancer 
1018329, mtnr1b, 9352:type 2 diabetes mellitus 
1018381, msmb.2, 10283:prostate cancer 
1018395, msmb.3, 10283:prostate cancer 
1018417, mc1r, 0050632:oculocutaneous albinism;0070096:oculocutaneous albinism type II;10611:protein-losing enteropathy 
1018490, ush1c, 0110473:autosomal recessive nonsyndromic deafness 18A;0110826:Usher syndrome type 1;0110830:Usher syndrome type 1C 
1018553, fgfr1, 0090083:hypogonadotropic hypogonadism 2 with or without anosmia;14705:Pfeiffer syndrome 
1019570, npm1, 9119:acute myeloid leukemia 
1020975, stat3.2, 3261:Job's syndrome 
1032880, lpin1, 0080108:myoglobinuria 
1032934, cyld, 0050693:Brooke-Spiegler syndrome 
1032966, ascl1, 0060731:congenital central hypoventilation syndrome 
1033024, kdm5c, 0060809:syndromic X-linked intellectual disability Claes-Jensen type 
1033059, fance, 0111084:Fanconi anemia complementation group E 
1033685, ccdc88c, 10908:hydrocephalus 
1033867, ptch2, 0050902:medulloblastoma;2512:nevoid basal cell carcinoma syndrome;2513:basal cell carcinoma 
1034768, sox9, 0050463:campomelic dysplasia 
1113171, pcdh19, 0050709:Ohtahara syndrome;0060848:early infantile epileptic encephalopathy 9 
1194371, foxh1, 0110881:holoprosencephaly 1 
1214886, slc26a2.2, 0050648:atelosteogenesis;0080055:achondrogenesis type IB;12721:multiple epiphyseal dysplasia;14687:diastrophic dysplasia 
1216164, trim33, 3969:papillary thyroid carcinoma 
1217436, gtf2i, 1928:Williams-Beuren syndrome 
1217487, cel, 0111105:maturity-onset diabetes of the young type 8 
1219003, pdgfrl.2, 684:hepatocellular carcinoma;9256:colorectal cancer 
1219041, avpr2.2, 12387:nephrogenic diabetes insipidus 
1219065, znf238.2, 0070052:autosomal dominant non-syndromic intellectual disability 22 
1219320, krt12.5, 0060451:Meesmann corneal dystrophy 
1221136, invs, 0111113:nephronophthisis 2 
1221148, ift140, 0110097:short-rib thoracic dysplasia 9 with or without polydactyly 
1221170, ift172, 0110091:short-rib thoracic dysplasia 10 with or without polydactyly 
1221179, mks1, 0070115:Meckel syndrome 1;0110123:Bardet-Biedl syndrome 1 
1221197, cep290, 0050576:Senior-Loken syndrome;0070118:Meckel syndrome 4;0110123:Bardet-Biedl syndrome 1;0110291:Leber congenital amaurosis 10;0111000:Joubert syndrome 5 
1221321, gldc, 9268:glycine encephalopathy 
5471042, prf1, 0060060:non-Hodgkin lymphoma;0110922:familial hemophagocytic lymphohistiocytosis 2;12449:aplastic anemia 
5721344, wwox, 5041:esophageal cancer 
5721916, tcirg1, 0110942:autosomal recessive osteopetrosis 1 
5725314, cdk5rap2, 10907:microcephaly 
5729290, dym, 0060247:Smith-McCort dysplasia;0111167:Dyggve-Melchior-Clausen disease 
5729601, krt50, 4603:epidermolytic hyperkeratosis 
5730171, ndufa12, 3652:Leigh disease 
5731974, tinf2, 0070014:autosomal dominant dyskeratosis congenita 1;0070026:Revesz syndrome 
5732457, slc19a3.2, 0090117:thiamine-responsive megaloblastic anemia syndrome 
5732838, adh1b, 0050741:alcohol dependence 
5732937, tulp1, 0110381:retinitis pigmentosa 14 
5733928, csnk1d, 0110012:advanced sleep phase syndrome 2 
5735053, lhfpl5, 0110518:autosomal recessive nonsyndromic deafness 67 
5739414, crygb, 0110236:cataract 39 multiple types 
5742861, fth1, 0111031:hemochromatosis type 5 
5744487, mttp.2, 1386:abetalipoproteinemia;14221:metabolic syndrome X 
5747741, pfn1, 0060209:amyotrophic lateral sclerosis type 18 
5749320, picalm.2, 9119:acute myeloid leukemia 
5749882, maoa, 0060693:Brunner Syndrome 
5751246, tgfbi, 0060444:granular corneal dystrophy type II;0060447:epithelial basement membrane dystrophy;0060453:Reis-Bucklers corneal dystrophy;0060455:Thiel-Behnke corneal dystrophy 
5752621, pdyn, 0050973:spinocerebellar ataxia type 23 
5753572, gnrhr, 0090078:hypogonadotropic hypogonadism 7 with or without anosmia;0090091:hypogonadotropic hypogonadism 23 with or without anosmia 
5754722, cbs, 9263:homocystinuria 
5755356, slc2a1, 0090045:childhood onset GLUT1 deficiency syndrome 2 
5755862, mtmr14, 14717:centronuclear myopathy 
5756124, cradd.2, 0060308:autosomal recessive non-syndromic intellectual disability 
5756230, cxcr1, 635:acquired immunodeficiency syndrome 
5757853, brwd3, 0050776:non-syndromic X-linked intellectual disability 
5759105, vcl, 0110446:dilated cardiomyopathy 1W 
5759990, was, 0050590:severe congenital neutropenia;1588:thrombocytopenia;9169:Wiskott-Aldrich syndrome 
5760120, myh2, 3429:inclusion body myositis 
5760737, dyrk1a.2, 0070037:autosomal dominant non-syndromic intellectual disability 7 
5760843, kansl1, 0050880:Koolen de Vries syndrome;0070076:Koolen-De Vries syndrome 
5761258, epha2, 0110229:cataract 6 multiple types 
5761533, dgat1, 0060778:congenital diarrhea 7 with exudative enteropathy 
5761764, fbln1, 0060242:synpolydactyly 
5761968, dync2h1, 0110087:asphyxiating thoracic dystrophy 3 
5762129, apcdd1, 0110698:hypotrichosis 1 
5762326, pc.2, 3651:pyruvate carboxylase deficiency disease 
5764341, l2hgdh, 0050574:L-2-hydroxyglutaric aciduria 
5764717, sycp3, 14227:azoospermia 
5765248, rnf168, 0090113:RIDDLE syndrome 
5765420, chek2, 10283:prostate cancer;1612:breast cancer;3012:Li-Fraumeni syndrome;3347:osteosarcoma 
5765473, g6pc, 2749:glycogen storage disease I 
5765544, aldh18a1, 0070132:autosomal recessive cutis laxa type IIIA;3144:cutis laxa 
5766173, dkc1, 0070025:X-linked dyskeratosis congenita 
5768571, lrrk2, 0060371:autosomal dominant Parkinson disease 8 
5768779, slc6a8, 0050800:creatine transporter deficiency 
5770296, cpt1al, 0090129:carnitine palmitoyltransferase I deficiency 
5770340, xpnpep3, 0111117:nephronophthisis-like nephropathy 1 
5770562, capn10, 9352:type 2 diabetes mellitus 
5770602, cspp1, 0110990:Joubert syndrome 21 
5771152, eef2.2, 0050975:spinocerebellar ataxia type 26 
5771974, coa5, 3762:cytochrome-c oxidase deficiency disease 
5777076, rit1, 0060586:Noonan syndrome 8 
5777344, kcnj10, 0050332:enlarged vestibular aqueduct;0060484:EAST syndrome;0060744:Pendred Syndrome;0110498:autosomal recessive nonsyndromic deafness 4 
5777819, alg12, 0050570:congenital disorder of glycosylation type I 
5781988, washc5, 0110823:hereditary spastic paraplegia 8 
5784155, pet100, 3762:cytochrome-c oxidase deficiency disease 
5784448, cth, 0090142:cystathioninuria 
5784935, ddost, 0050570:congenital disorder of glycosylation type I 
5786074, sigmar1, 0060207:amyotrophic lateral sclerosis type 16 
5789581, rnf170, 0111170:autosomal dominant sensory ataxia 1 
5793395, crybb3, 0110268:cataract 22 multiple types 
5793916, ehmt1, 0060352:Kleefstra syndrome;0070075:Kleefstra Syndrome 
5796324, fancf, 0111088:Fanconi anemia complementation group F 
5797082, abr, 0050902:medulloblastoma 
5797457, fam83h, 0110055:amelogenesis imperfecta type 3 
5797750, rhag, 0050641:Rh deficiency syndrome 
5798520, ftsj1, 0050776:non-syndromic X-linked intellectual disability 
5799123, cc2d1a, 0060308:autosomal recessive non-syndromic intellectual disability 
5799149, gba2, 0110798:hereditary spastic paraplegia 46 
5799693, tcf12, 2340:craniosynostosis 
5799939, polr3b, 0060794:hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism;0060797:hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism;0090078:hypogonadotropic hypogonadism 7 with or without anosmia 
5805276, mrps16, 0060286:combined oxidative phosphorylation deficiency 
5809272, socs3l, 0110100:atopic dermatitis 4 
5810263, tpx2, 10283:prostate cancer 
5811282, otoa, 0110480:autosomal recessive nonsyndromic deafness 22 
5811998, tmc6, 13777:epidermodysplasia verruciformis 
5812146, dtnbp1, 0060539:Hermansky-Pudlak syndrome 1;5419:schizophrenia 
5812949, chmp1a, 0060277:pontocerebellar hypoplasia type 8 
5813136, arl11, 1040:chronic lymphocytic leukemia 
5813246, dmd.1, 0110461:dilated cardiomyopathy 3B;11723:Duchenne muscular dystrophy;9883:Becker muscular dystrophy 
5813350, elp1, 11589:Riley-Day syndrome 
5814282, slc25a38, 0060065:pyridoxine-refractory autosomal recessive sideroblastic anemia 
5815089, cav3.2, 0060255:rippling muscle disease 2;0110302:autosomal dominant limb-girdle muscular dystrophy type 1C;0110307:hypertrophic cardiomyopathy 1;0110650:long QT syndrome 9 
5815522, cplx1, 0050460:Wolf-Hirschhorn syndrome 
5815682, grhpr.2, 2977:primary hyperoxaluria 
5817034, kcnq4, 0110558:autosomal dominant nonsyndromic deafness 2A 
5818691, pgap1, 0060308:autosomal recessive non-syndromic intellectual disability 
5820823, wdpcp, 0110123:Bardet-Biedl syndrome 1 
5821021, fam161a, 0110365:retinitis pigmentosa 28 
5821574, cyp3a5, 10825:essential hypertension 
5822251, satb2, 0110213:isolated cleft palate 
5823873, cacna1s, 14452:hypokalemic periodic paralysis 
5824648, mtrr, 0080074:neural tube defect 
5825104, idh3b, 0110409:retinitis pigmentosa 46 
5825461, pkp2, 0110077:arrhythmogenic right ventricular dysplasia 9 
5825895, tbc1d20.2, 0110719:Warburg micro syndrome 4 
5827245, tecpr2, 0110801:hereditary spastic paraplegia 49 
5828963, dna2, 0070009:Seckel syndrome 8 
5829005, gp1bb, 2217:Bernard-Soulier syndrome 
5830281, gad1.2, 10970:spastic quadriplegia 
5830876, med25, 0110179:Charcot-Marie-Tooth disease type 2B2 
5831951, rpgrip1l, 0111002:Joubert syndrome 7 
5833231, uvssa, 0060240:UV-sensitive syndrome 
5834443, tuba1cl, 0050453:lissencephaly 
5836256, f13bl, 2211:factor XIII deficiency 
5838515, ank1, 0110916:hereditary spherocytosis type 1 
5838710, mlh1, 0050465:Muir-Torre syndrome;3883:Lynch syndrome 
5838912, guca1b, 0110382:retinitis pigmentosa 48 
5839239, rad54b, 0060060:non-Hodgkin lymphoma 
5839499, ahdc1, 0070055:Xia-Gibbs Syndrome 
5839558, marveld2, 0110506:autosomal recessive nonsyndromic deafness 49 
5840003, dnase1, 9074:systemic lupus erythematosus 
5842911, dnajc19, 0110000:3-methylglutaconic aciduria type 5 
5843080, setd5, 0070053:autosomal dominant non-syndromic intellectual disability 23 
5843767, prkcsh, 0050770:polycystic liver disease 
5844203, akr1c2, 14448:46 XY gonadal dysgenesis 
5844483, trappc9, 0050889:non-syndromic intellectual disability 
5847664, liph, 0110704:hypotrichosis 7 
5848648, gpr143, 0050633:ocular albinism;9649:congenital nystagmus 
5848873, rs1, 0060763:X-linked juvenile retinoschisis 1 
5848952, aprt, 0060350:adenine phosphoribosyltransferase deficiency 
5849691, tmem38b, 0110343:osteogenesis imperfecta type 14 
5850463, klhl41, 0110929:nemaline myopathy 9 
5851600, hmmr, 1612:breast cancer 
5852261, cradd.1, 0060308:autosomal recessive non-syndromic intellectual disability 
5852281, polr1d.2, 2908:Treacher Collins syndrome 
5852382, alg13, 0050570:congenital disorder of glycosylation type I 
5852767, ndufaf4, 0060536:mitochondrial complex I deficiency 
5854282, phgdh, 0050722:PHGDH deficiency 
5855161, sdhd, 0050771:phaeochromocytoma;0050773:paraganglioma;0060537:mitochondrial complex II deficiency;6457:Cowden disease 
5857190, gopc, 14227:azoospermia 
5857401, gtf2ird1, 1928:Williams-Beuren syndrome 
5858685, slc22a4, 0110892:inflammatory bowel disease 1;7148:rheumatoid arthritis 
5859300, tmem98, 10629:microphthalmia 
5862161, mars2, 0050942:spastic ataxia 3 
5862184, inf2, 0110205:Charcot-Marie-Tooth disease dominant intermediate E;0111130:focal segmental glomerulosclerosis 5 
5864291, col3a1, 14756:autosomal dominant type IV Ehlers-Danlos syndrome;14757:type III Ehlers-Danlos syndrome 
5865480, comt.2, 5419:schizophrenia;594:panic disorder 
5866499, crybb2, 0110235:cataract 2 multiple types;0110269:cataract 3 multiple types 
5867928, palb2, 0111094:Fanconi anemia complementation group N;1612:breast cancer 
5867970, kcnd3, 0050970:spinocerebellar ataxia type 19/22 
5868351, spg11, 0110764:hereditary spastic paraplegia 11 
5868905, cox1, 3687:MELAS syndrome 
5869910, gosr2, 891:progressive myoclonus epilepsy 
5870366, vamp1, 0050772:spastic ataxia 1 
5870377, slc6a19, 1060:Hartnup disease 
5870536, mcm6, 10604:lactose intolerance 
5871551, cyp27a1, 4810:cerebrotendinous xanthomatosis 
5871696, c9orf72, 0060213:FTDALS1 
5871723, b4galt1.1, 0050571:congenital disorder of glycosylation type II 
5872333, nhs, 0060599:Nance-Horan syndrome 
5873170, cst3, 0070027:CST3-related cerebral amyloid angiopathy;0110023:age related macular degeneration 11 
5873780, man1b1, 0050889:non-syndromic intellectual disability 
5874684, umps, 0050833:orotic aciduria 
5875738, capn3, 0110275:autosomal recessive limb-girdle muscular dystrophy type 2A 
5876528, ctsf, 0110727:neuronal ceroid lipofuscinosis 13 
5876582, acadvl, 0080155:very long chain acyl-CoA dehydrogenase deficiency 
5878273, tgm6, 0050982:spinocerebellar ataxia type 35 
5879292, dlx3, 0110053:amelogenesis imperfecta type 4 
5879818, ahi1, 0110998:Joubert syndrome 3 
5879909, nop56, 0050983:spinocerebellar ataxia type 36 
5886291, tubb3, 0080143:congenital fibrosis of the extraocular muscles;0090137:complex cortical dysplasia with other brain malformations 1 
5886875, tctn1, 0110982:Joubert syndrome 13 
5887238, kcne3, 14452:hypokalemic periodic paralysis 
5887532, dnaaf2, 0110612:primary ciliary dyskinesia 10 
5888636, ctnnd2, 12580:Cri-Du-Chat syndrome 
5889202, ttll5, 0111025:cone-rod dystrophy 19 
5889577, cyp4f22, 0060714:autosomal recessive congenital ichthyosis 5 
5892316, kiz, 0110410:retinitis pigmentosa 69 
5894592, sept12, 14227:azoospermia 
5894879, hfm1, 5426:premature ovarian failure 
5894897, c7, 0060300:complement component 7 deficiency 
5895372, ccdc78, 14717:centronuclear myopathy 
5895777, cdkal1, 9352:type 2 diabetes mellitus 
5895887, akr1c4, 14448:46 XY gonadal dysgenesis 
5896601, foxred1, 0060536:mitochondrial complex I deficiency;3652:Leigh disease 
5896976, cyp7b1, 0110810:hereditary spastic paraplegia 5A 
5898520, sil1, 0080195:Marinesco-Sjogren syndrome 
5901653, wnt7a, 0090067:Fuhrmann syndrome 
5902234, dnaaf5, 0110604:primary ciliary dyskinesia 18 
5903817, stac3, 0060346:Native American myopathy 
5906944, ctsd, 0110725:neuronal ceroid lipofuscinosis 10 
5907113, tsen2, 0060268:pontocerebellar hypoplasia type 2B 
5909077, alox12b, 0060710:autosomal recessive congenital ichthyosis 2;1699:congenital ichthyosiform erythroderma 
5909176, cc2d2a, 0070120:Meckel syndrome 6;0111004:Joubert syndrome 9 
5909248, ift43, 0080033:craniometaphyseal dysplasia 
5910007, chuk, 0060647:cocoon syndrome 
5910167, nlrp3, 0090029:CINCA Syndrome;0090062:familial cold autoinflammatory syndrome 1 
5910330, irf6.2, 0060055:popliteal pterygium syndrome;0060239:Van der Woude syndrome 
5910468, cfap298, 0110627:primary ciliary dyskinesia 26 
5911792, mogs, 0050571:congenital disorder of glycosylation type II 
5913943, myo1e.2, 0111131:focal segmental glomerulosclerosis 6 
5914007, mbd5, 0070031:autosomal dominant non-syndromic intellectual disability 1 
5914212, washc4, 0060308:autosomal recessive non-syndromic intellectual disability 
5914423, sema4a, 0110357:retinitis pigmentosa 35;0111017:cone-rod dystrophy 10 
5914699, l1cam, 0060246:MASA syndrome;10908:hydrocephalus 
5915560, diablo, 0110585:autosomal dominant nonsyndromic deafness 64 
5916204, vti1a, 0080135:multiple mitochondrial dysfunctions syndrome 3 
5917456, uqcc2, 0080116:mitochondrial complex III deficiency nuclear type 7 
5918040, pklr, 0111077:pyruvate kinase deficiency of red cells 
5918221, tfe3, 4465:papillary renal cell carcinoma 
5918289, hmbs, 3890:acute intermittent porphyria 
5918475, gcgr, 9352:type 2 diabetes mellitus 
5918488, cat.1, 2582:acatalasia 
5918717, usf1, 13809:familial combined hyperlipidemia 
5918937, mllt11, 0050458:juvenile myelomonocytic leukemia 
5918987, sqstm1, 5408:Paget's disease of bone 
5919505, kcnj5, 0110654:long QT syndrome 13;446:primary hyperaldosteronism 
5921232, epg5, 0060356:Vici syndrome 
5921461, kcnq1, 0050650:familial atrial fibrillation;0050793:short QT syndrome;0110644:long QT syndrome 1;2842:Jervell-Lange Nielsen syndrome;5572:Beckwith-Wiedemann syndrome 
5922244, snrpe, 0110708:hypotrichosis 11 
5929083, ada.2, 5810:adenosine deaminase deficiency 
5930956, lct.1, 10604:lactose intolerance 
5931109, hps5, 0060539:Hermansky-Pudlak syndrome 1 
5931147, trappc11, 0110287:autosomal recessive limb-girdle muscular dystrophy type 2S 
5932066, chrna1.2, 0080110:multiple pterygium syndrome;0110662:congenital myasthenic syndrome 1B;0110663:congenital myasthenic syndrome 1A 
5932309, kif4a, 0050776:non-syndromic X-linked intellectual disability 
5932623, tsen34, 0060269:pontocerebellar hypoplasia type 2C 
5933521, dctn1, 0060193:amyotrophic lateral sclerosis type 1 
5933879, primpol, 11830:myopia 
5934130, alg11, 0050570:congenital disorder of glycosylation type I 
5934500, kif1bp, 0060481:Goldberg-Shprintzen syndrome 
5935910, trip11, 0080054:achondrogenesis type IA 
5935961, lamb2, 0060852:Pierson syndrome 
5936528, rgs9bp, 0050335:bradyopsia 
5938587, erbb2, 10534:stomach cancer;1324:lung cancer;3070:malignant glioma 
5940570, cryaa, 0110266:cataract 9 multiple types 
5940578, fuca1, 14500:fucosidosis 
5941074, rsph9, 0110601:primary ciliary dyskinesia 12 
5941572, hars2, 0050857:Perrault syndrome 
5942578, rfx5, 5812:MHC class II deficiency 
5943020, stx16, 4184:pseudohypoparathyroidism 
5943044, tmem216, 0070116:Meckel syndrome 2;0110988:Joubert syndrome 2 
5943312, slc2a4, 9352:type 2 diabetes mellitus 
5943783, fam20a, 0110066:amelogenesis imperfecta type 1G 
5945263, cox6b1, 3762:cytochrome-c oxidase deficiency disease 
5945699, rsph1, 0110628:primary ciliary dyskinesia 24 
5945764, obsl1, 0060241:3-M syndrome 
5947962, wrap53, 0070019:autosomal recessive dyskeratosis congenita 3 
5949004, gabrg2, 0060170:generalized epilepsy with febrile seizures plus;0060171:Dravet syndrome;2481:infantile epileptic encephalopathy 
5950100, col4a2, 0060263:porencephaly 
5950161, itga2b.2, 0060691:platelet-type bleeding disorder 16;2219:Glanzmann's thrombasthenia 
5952676, ca4, 0110404:retinitis pigmentosa 17 
5953133, rbbp8, 0070013:Seckel syndrome 2 
5953275, cfi, 0050419:complement factor I deficiency;0110025:age related macular degeneration 13 
5953720, chkb, 0110632:megaconial type congenital muscular dystrophy 
5953769, akap9, 0110652:long QT syndrome 11 
5953795, pnkp, 0050709:Ohtahara syndrome;2481:infantile epileptic encephalopathy 
5954540, myh8, 0050471:Carney complex;0050646:distal arthrogryposis 
5954566, col5a1, 14720:type I Ehlers-Danlos syndrome 
5954969, prkaca, 0060280:primary pigmented nodular adrenocortical disease 
5955935, rgs9, 0050335:bradyopsia 
5957240, clcn5, 0050445:X-linked hypophosphatemic rickets;0050699:Dent disease 
5957306, gnptab, 0080070:inclusion-cell disease;0080071:pseudo-Hurler polydystrophy 
5957472, tbc1d24.2, 0110532:autosomal recessive nonsyndromic deafness 86 
5958093, dis3l2, 0060476:Perlman syndrome 
5958699, mkrn3, 11983:Prader-Willi syndrome 
5959462, arsa.1, 10581:metachromatic leukodystrophy 
5960334, fermt1, 0060472:Kindler syndrome 
5961451, c6.1, 0060299:complement component 6 deficiency 
5961868, ndufa13, 0060536:mitochondrial complex I deficiency;8161:thyroid Hurthle cell carcinoma 
5961969, slc5a2, 9432:renal glycosuria 
5961993, krt12.1, 4644:epidermolysis bullosa simplex 
5962007, chchd10, 0060214:FTDALS2 
5962522, bbs12, 0110123:Bardet-Biedl syndrome 1 
5962553, fancg, 0111086:Fanconi anemia complementation group G 
5963240, cd40, 0060023:CD40 deficiency 
5966550, thra, 0070128:congenital nongoitrous hypothryoidism 6 
5966956, acsl4, 0050776:non-syndromic X-linked intellectual disability 
5967063, drc1, 0110596:primary ciliary dyskinesia 21 
5969094, oat, 1415:gyrate atrophy 
5969670, anks6, 0111124:nephronophthisis 16 
5969736, cisd2, 0110630:Wolfram syndrome 2 
5969936, phka1, 0111040:glycogen storage disease IXd 
5992932, nsd3, 9119:acute myeloid leukemia 
5993002, kcnt1, 0050709:Ohtahara syndrome;0060686:autosomal dominant nocturnal frontal lobe epilepsy 5 
5994597, chrna4, 0060682:autosomal dominant nocturnal frontal lobe epilepsy 1 
5995151, smad4.2, 0050787:juvenile polyposis syndrome;4905:pancreatic carcinoma 
5995329, diaph1, 0110541:autosomal dominant nonsyndromic deafness 1 
5995516, gatad2b, 0070048:autosomal dominant non-syndromic intellectual disability 18 
5997713, trappc9.2, 0050889:non-syndromic intellectual disability 
5998209, plekhg4, 0050980:spinocerebellar ataxia type 31 
5999892, pde11a, 0060280:primary pigmented nodular adrenocortical disease 
6000360, dmbt1, 0050902:medulloblastoma;3070:malignant glioma 
6000856, krt78.5, 0050449:pachyonychia congenita 
6030742, gabrb3, 1826:epilepsy 
6030767, naglu, 12801:mucopolysaccharidosis III 
6031017, inpp5el, 0110980:Joubert syndrome 1 
6031033, pde6h, 0050795:cone dystrophy 
6031109, tet2, 0050908:myelodysplastic syndrome 
6031140, prrt2, 0090053:episodic kinesigenic dyskinesia 1 
6031645, steap3, 0050642:hypochromic microcytic anemia 
6031728, ndufaf2, 0060536:mitochondrial complex I deficiency;3652:Leigh disease 
6031745, ttn, 0110283:autosomal recessive limb-girdle muscular dystrophy type 2J;0110430:dilated cardiomyopathy 1G;0111078:tibial muscular dystrophy 
6032475, col5a2, 14720:type I Ehlers-Danlos syndrome 
6032644, myo3a, 0110489:autosomal recessive nonsyndromic deafness 30 
6032684, rp1, 0110390:retinitis pigmentosa 1;1172:hyperlipoproteinemia type IV 
6032790, slc52a3, 0050694:Brown-Vialetto-Van Laere syndrome 
6033421, aloxe3, 0060710:autosomal recessive congenital ichthyosis 2;1699:congenital ichthyosiform erythroderma 
6033728, plekhm1, 0110945:autosomal recessive osteopetrosis 6 
6033759, colq, 0110667:congenital myasthenic syndrome 5 
6034035, spg7, 0110816:hereditary spastic paraplegia 7 
6034695, atp1a2, 0050635:alternating hemiplegia of childhood;0060178:familial hemiplegic migraine;14452:hypokalemic periodic paralysis 
6034869, ap5z1, 0110800:hereditary spastic paraplegia 48 
6034942, mettl23, 0060308:autosomal recessive non-syndromic intellectual disability 
6034961, kif7, 0050779:hydrolethalus syndrome;9250:acrocallosal syndrome 
6035125, szt2, 0050709:Ohtahara syndrome 
6035210, otogl2, 0110474:autosomal recessive nonsyndromic deafness 18B 
6035279, cerkl, 0110368:retinitis pigmentosa 26 
6035308, p2rx1, 0060692:platelet-type bleeding disorder 8 
6035340, rmnd1, 0060286:combined oxidative phosphorylation deficiency 
6035450, traf3ip2, 2058:chronic mucocutaneous candidiasis 
6035541, cngb3, 0050817:Stargardt disease;0110008:achromatopsia 3 
6035709, cep164, 0111123:nephronophthisis 15 
6035761, iqsec2, 0050776:non-syndromic X-linked intellectual disability 
6035797, glra1, 0060696:hyperekplexia 1 
6035929, rtel1, 0070020:autosomal dominant dyskeratosis congenita 4;0070022:autosomal recessive dyskeratosis congenita 5 
6036031, atp8a2, 0050997:cerebellar ataxia, mental retardation and dysequlibrium syndrome 
6036139, alg9, 0050570:congenital disorder of glycosylation type I 
6036228, kras, 0050469:Costello syndrome;0060581:Noonan syndrome 3;10534:stomach cancer;11054:urinary bladder cancer;1324:lung cancer;1612:breast cancer;4905:pancreatic carcinoma;9119:acute myeloid leukemia 
6037400, kcna5, 0050650:familial atrial fibrillation 
6037406, scn5a, 0110218:Brugada syndrome 1;0110433:dilated cardiomyopathy 1E;0110646:long QT syndrome 3;0111074:progressive familial heart block type IA;13884:sick sinus syndrome 
6037471, dok7, 0110668:congenital myasthenic syndrome 10 
6037688, gpc6, 0060288:omodysplasia 
6038557, msrb3, 0110523:autosomal recessive nonsyndromic deafness 74 
6038809, nbeal2, 0111044:gray platelet syndrome 
6041029, adh1c, 0050741:alcohol dependence;14330:Parkinson's disease 
6041251, cox20, 3762:cytochrome-c oxidase deficiency disease 
6041437, pjvk, 0110511:autosomal recessive nonsyndromic deafness 59 
6041520, znf81, 0050776:non-syndromic X-linked intellectual disability 
6041737, serac1, 0110001:3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 
6041757, c1orf84, 0050709:Ohtahara syndrome 
6041868, col4a5, 0110034:X-linked Alport syndrome 
6041910, nexmif, 0050776:non-syndromic X-linked intellectual disability 
6041942, abca12, 0060712:autosomal recessive congenital ichthyosis 4A;0060713:autosomal recessive congenital ichthyosis 4B 
6041968, arfgef2, 0050454:periventricular nodular heterotopia 
6042489, grxcr1, 0110483:autosomal recessive nonsyndromic deafness 25 
6043632, camta1, 0050998:nonprogressive cerebellar atxia with mental retardation 
6043717, p2rx2, 0110567:autosomal dominant nonsyndromic deafness 41 
6044144, ankrd26, 1588:thrombocytopenia 
6044384, mtmr2, 0110191:Charcot-Marie-Tooth disease type 4B1 
6044513, muc5b, 0050156:idiopathic pulmonary fibrosis 
6044680, atp7b, 893:Wilson disease 
6044812, clrn1, 0110841:Usher syndrome type 3A;10584:retinitis pigmentosa 
6044837, flna, 0050454:periventricular nodular heterotopia 
6045054, kcne2, 0050650:familial atrial fibrillation 
6045608, krt15.1, 0050448:hereditary mucosal leukokeratosis 
6045752, plcb1, 0050709:Ohtahara syndrome;2481:infantile epileptic encephalopathy 
6045768, med13l, 0060771:dextro-looped transposition of the great arteries 1 
6045811, ehbp1, 10283:prostate cancer 
6046061, itgam, 9074:systemic lupus erythematosus 
6046301, tpm3, 0080102:congenital fiber-type disproportion;0110927:nemaline myopathy 3 
6046830, padi4, 7148:rheumatoid arthritis 
6046858, gipc3, 0110470:autosomal recessive nonsyndromic deafness 15 
6046916, notch2, 9245:Alagille syndrome 
6047254, fig4, 0110184:Charcot-Marie-Tooth disease type 4J 
6047372, kcnq2, 14264:benign neonatal seizures 
6047526, klhl10, 14227:azoospermia 
6047578, pts, 0090106:Bh4-deficient hyperphenylalaninemia A 
6047949, ttc21b, 0110088:asphyxiating thoracic dystrophy 4;0110980:Joubert syndrome 1;0111119:nephronophthisis 12 
6048227, col9a1, 12721:multiple epiphyseal dysplasia 
6048313, slc9a6, 0060825:Christianson syndrome 
6049176, arse, 0060292:X-linked chondrodysplasia punctata 
6049377, slc39a4, 0050605:acrodermatitis enteropathica 
6049396, dchs1, 0060238:Van Maldergem syndrome 
6049694, clcnkb, 0110144:Bartter disease type 3;0110145:Bartter disease type 4a 
6049718, tfr2, 0111030:hemochromatosis type 3 
6049795, pdzd7, 0110838:Usher syndrome type 2A;0110839:Usher syndrome type 2C 
6050068, grik2, 0060308:autosomal recessive non-syndromic intellectual disability 
6050594, wdr60, 0110094:short-rib thoracic dysplasia 8 with or without polydactyly 
6050615, grxcr2, 0110462:autosomal recessive nonsyndromic deafness 101 
6050977, tspear, 0110540:autosomal recessive nonsyndromic deafness 98 
6051084, prss56, 0060835:isolated microphthalmia 6 
6052257, knl1, 10907:microcephaly 
6052299, aggf1, 2926:Klippel-Trenaunay syndrome 
6052363, ubr1, 14694:Johanson-Blizzard syndrome 
6052388, rnf213, 13099:Moyamoya disease 
6052813, myc, 8584:Burkitt lymphoma 
6053270, maf, 0110256:cataract 21 multiple types 
6053329, raf1, 0060583:Noonan syndrome 5;14291:LEOPARD syndrome 
6054130, gaa, 2752:glycogen storage disease II 
6054494, ptpn11, 0050458:juvenile myelomonocytic leukemia;0060578:Noonan syndrome 1;14291:LEOPARD syndrome 
6065246, casr, 0060700:familial hypocalciuric hypercalcemia 1;11199:hypoparathyroidism 
6065291, rtn4r, 5419:schizophrenia 
6067151, egfr, 1324:lung cancer 
6067220, pik3r1, 2583:agammaglobulinemia 
6070708, thrb, 11633:thyroid hormone resistance syndrome 
6071380, tpm2, 0050646:distal arthrogryposis;0080102:congenital fiber-type disproportion;0110927:nemaline myopathy 3 
6072919, pdgfra, 9253:gastrointestinal stromal tumor 
6073788, hars, 0110842:Usher syndrome type 3B 
6074534, abcc9, 0110451:dilated cardiomyopathy 1O 
6074544, gjb4, 0050467:erythrokeratodermia variabilis 
6074555, casq2, 0060675:catecholaminergic polymorphic ventricular tachycardia 1;0060676:catecholaminergic polymorphic ventricular tachycardia 2 
6074616, ubb, 0110213:isolated cleft palate 
6076449, dysf, 0110276:autosomal recessive limb-girdle muscular dystrophy type 2B;11720:distal muscular dystrophy 
6076512, lrit3, 0110864:congenital stationary night blindness 1F 
6076867, sh2d1a, 0060705:X-linked lymphoproliferative syndrome 1 
6077305, ccnd1, 1040:chronic lymphocytic leukemia;14175:von Hippel-Lindau disease;9538:multiple myeloma 
6084256, sco1, 3762:cytochrome-c oxidase deficiency disease 
6084576, kcnj11, 0060334:transient neonatal diabetes mellitus;0060639:permanent neonatal diabetes mellitus;13317:hyperinsulinemic hypoglycemia;9352:type 2 diabetes mellitus 
6085074, rasa1, 2513:basal cell carcinoma 
6085117, col6a2, 0050558:Ullrich congenital muscular dystrophy;0050663:Bethlem myopathy 
6085195, cog4, 0050571:congenital disorder of glycosylation type II 
6085853, clcn1, 2106:myotonia congenita 
6085897, nras, 0111162:epidermal nevus;3962:follicular thyroid carcinoma;9256:colorectal cancer 
6087117, rag1, 0060010:Omenn syndrome;0090013:severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive 
6096144, pdgfrb, 0060230:basal ganglia calcification;0080109:infantile myofibromatosis 
6250445, large1, 0050560:Walker-Warburg syndrome;0110637:muscular dystrophy-dystroglycanopathy type B6 
6250836, rbm8a, 14699:thrombocytopenia-absent radius syndrome 
6251327, aars2, 0060286:combined oxidative phosphorylation deficiency 
6257460, trpm4, 0111076:progressive familial heart block type IB 
6257495, mpdu1, 0050570:congenital disorder of glycosylation type I 
6257735, lrtomt, 0110515:autosomal recessive nonsyndromic deafness 63 
6257884, crygs, 0110240:cataract 20 multiple types 
6257977, nup62, 4751:striatonigral degeneration 
6258052, mad1l1, 10283:prostate cancer 
6258063, npc2, 0070114:Niemann-Pick disease type C2 
6258113, dnaaf3, 0110626:primary ciliary dyskinesia 2 
6258120, ttc19, 0060351:mitochondrial complex III deficiency nuclear type 2 
6258150, ada2, 13096:Sneddon syndrome 
6258172, hmga2, 13223:uterine fibroid 
6258196, rps14, 0090016:chromosome 5q deletion syndrome 
6258208, max, 0050771:phaeochromocytoma 
6258220, wdr81, 0050997:cerebellar ataxia, mental retardation and dysequlibrium syndrome 
6258278, kiaa0319, 4428:dyslexia 
6258281, ighmbp2, 0111064:autosomal recessive distal spinal muscular atrophy 1 
6258322, tsg101, 1612:breast cancer 
6258352, col2a1, 0080026:otospondylomegaepiphyseal dysplasia;0080028:spondyloepimetaphyseal dysplasia, Strudwick type;0080046:Stickler syndrome;0080056:achondrogenesis type II;14415:Legg-Calve-Perthes disease;14789:spondyloepiphyseal dysplasia congenita 
6258364, epb42, 0110920:hereditary spherocytosis type 5 
6258369, sgca, 0110278:autosomal recessive limb-girdle muscular dystrophy type 2D 
6258378, col1a1, 0110334:osteogenesis imperfecta type 1;0110339:osteogenesis imperfecta type 3;0110340:osteogenesis imperfecta type 4;0110341:osteogenesis imperfecta type 2;11476:osteoporosis;14720:type I Ehlers-Danlos syndrome;4257:Caffey disease 
6258405, pacs1, 0070047:Schuurs-Hoeijmakers Syndrome 
6258437, lpar6, 0110705:hypotrichosis 8 
6258451, cbl, 0050458:juvenile myelomonocytic leukemia 
6258531, myoc, 1067:open-angle glaucoma 
6258536, ewsr1, 3369:Ewing sarcoma 
6258571, hmcn1, 0110014:age related macular degeneration 1 
6258602, diaph2, 5426:premature ovarian failure 
6258656, gnat2, 0110010:achromatopsia 4 
6258722, crebbp, 1933:Rubinstein-Taybi syndrome 
6258789, angptl3, 0111061:familial hypobetalipoproteinemia 2 
6258822, calr3, 0110325:hypertrophic cardiomyopathy 19 
6258828, coa7, 3762:cytochrome-c oxidase deficiency disease 
6258853, vapb, 0050752:amyotrophic lateral sclerosis type 8 
6259083, numa1, 0060318:acute promyelocytic leukemia 
6259094, tufm, 0060286:combined oxidative phosphorylation deficiency 
6259138, hmx1, 0060482:oculoauricular syndrome 
6408099, mllt10, 9119:acute myeloid leukemia 
6447551, scn2a, 0060169:benign familial infantile epilepsy;0060170:generalized epilepsy with febrile seizures plus 
6449529, chrnb1, 0110663:congenital myasthenic syndrome 1A;0110679:congenital myasthenic syndrome 4C 
6449943, pcnt, 0060609:microcephalic osteodysplastic primordial dwarfism type II 
6450007, notch3, 0080109:infantile myofibromatosis;0111035:CADASIL 1 
6451171, kiss1, 0090073:hypogonadotropic hypogonadism 13 with or without anosmia 
6451229, btk, 0060875:isolated growth hormone deficiency type III;14179:Bruton-type agammaglobulinemia 
6451332, tert, 0050156:idiopathic pulmonary fibrosis;0070014:autosomal dominant dyskeratosis congenita 1;0070016:autosomal dominant dyskeratosis congenita 2;0070021:autosomal recessive dyskeratosis congenita 4;12449:aplastic anemia;9119:acute myeloid leukemia 
6451484, col4a1, 0060263:porencephaly;0090125:COL4A1-related familial vascular leukoencephalopathy 
6451493, col6a3, 0050558:Ullrich congenital muscular dystrophy;0050663:Bethlem myopathy 
6453026, slc22a18, 1324:lung cancer;1612:breast cancer;3246:embryonal rhabdomyosarcoma 
6453364, hamp, 0111032:hemochromatosis type 2B 
6453388, surf1, 3652:Leigh disease 
6453443, galt, 9870:galactosemia 
6453553, enam, 0110052:amelogenesis imperfecta type 1B 
6453898, brca2, 0050902:medulloblastoma;0111089:Fanconi anemia complementation group D1;10283:prostate cancer;1612:breast cancer;2154:nephroblastoma 
6454231, edn3, 0060731:congenital central hypoventilation syndrome;0110953:Waardenburg syndrome type 4A 
6454243, gdf6, 0060836:isolated microphthalmia 4;0110217:Leber congenital amaurosis 17;10426:Klippel-Feil syndrome;10629:microphthalmia 
6455903, irs2, 9352:type 2 diabetes mellitus 
6455951, mpv17, 0080125:mitochondrial DNA depletion syndrome 6;0080126:mitochondrial DNA depletion syndrome 7 
6456352, nrl, 0110397:retinitis pigmentosa 27 
6456536, hexa, 3320:Tay-Sachs disease 
6456839, selenon, 0080102:congenital fiber-type disproportion;0110633:rigid spine muscular dystrophy 1 
6457313, ebp, 0060292:X-linked chondrodysplasia punctata 
6457433, pqbp1, 0060179:Renpenning syndrome 
6457545, gba, 0110957:Gaucher's disease type I;0110958:Gaucher's disease type II;0110959:Gaucher's disease type III;0110960:Gaucher's disease perinatal lethal;12217:Lewy body dementia;14330:Parkinson's disease 
6457591, cyc1, 0080115:mitochondrial complex III deficiency nuclear type 6 
6457635, uqcrb, 0080112:mitochondrial complex III deficiency nuclear type 3 
6457661, timmdc1, 0060536:mitochondrial complex I deficiency 
6457718, poglut1, 0060256:Dowling-Degos disease 
6458118, dtna, 0060480:left ventricular noncompaction 
6458530, prg4, 0090127:camptodactyly-arthropathy-coxa vara-pericarditis syndrome 
6458552, znf469, 14775:brittle cornea syndrome 
6458565, zmynd15, 14227:azoospermia 
6458603, dmp1, 0050949:autosomal recessive hypophosphatemic rickets 
6458609, dspp, 4154:dentinogenesis imperfecta;701:dentin dysplasia 
6458637, amh, 0050791:persistent Mullerian duct syndrome 
6458644, wnt5a, 0060766:autosomal dominant Robinow syndrome 1 
6458761, atn1, 0060162:dentatorubral-pallidoluysian atrophy 
6459020, dnai1, 0110594:primary ciliary dyskinesia 1 
6459156, nup214, 9119:acute myeloid leukemia 
6459210, trdn, 0060675:catecholaminergic polymorphic ventricular tachycardia 1;0060679:catecholaminergic polymorphic ventricular tachycardia 5 
6459278, il10ra, 0110899:inflammatory bowel disease 28 
6459395, plec, 0060733:junctional epidermolysis bullosa with pyloric atresia;0060736:epidermolysis bullosa simplex Ogna type;0090017:epidermolysis bullosa simplex with muscular dystrophy;0110285:autosomal recessive limb-girdle muscular dystrophy type 2Q 
6459568, epor, 0060652:familial erythrocytosis 1 
6459623, slc35a2, 0050571:congenital disorder of glycosylation type II 
6459671, sfxn4, 0060286:combined oxidative phosphorylation deficiency 
6459771, myh11, 14004:thoracic aortic aneurysm 
6459862, il17ra, 2058:chronic mucocutaneous candidiasis 
6460075, foxp3, 0090110:immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome;9744:type 1 diabetes mellitus 
6460426, mamld1, 10892:hypospadias 
6460748, adamts17, 0050475:Weill-Marchesani syndrome 
6461261, aire, 0050167:autoimmune polyendocrine syndrome type 1 
6461968, rnaseh2c, 0050629:Aicardi-Goutieres syndrome 
6462315, cox8a, 3762:cytochrome-c oxidase deficiency disease 
6462343, cytb, 3687:MELAS syndrome;705:Leber hereditary optic neuropathy 
6462438, eda, 0050591:tooth agenesis;14793:hypohidrotic ectodermal dysplasia 
6462925, ccdc141, 0090078:hypogonadotropic hypogonadism 7 with or without anosmia 
6464188, pnpla1, 0060719:autosomal recessive congenital ichthyosis 10 
6464201, c8orf37, 0111022:cone-rod dystrophy 16;10584:retinitis pigmentosa 
6464268, ddx3y, 14227:azoospermia 
6464667, ucp3, 9970:obesity 
6465356, hspg2, 0090005:Schwartz-Jampel syndrome 1;0090032:Silverman-Handmaker type dyssegmental dysplasia 
6465365, abcc6, 0050632:oculocutaneous albinism;0050644:arterial calcification of infancy;2738:pseudoxanthoma elasticum 
6465464, rbm20, 0110447:dilated cardiomyopathy 1DD 
6465713, gnmt, 0111037:glycine N-methyltransferase deficiency 
6466715, nd1, 3687:MELAS syndrome;705:Leber hereditary optic neuropathy 
6467220, serpina6, 0090030:corticosteroid-binding globulin deficiency 
6467298, arhgap31, 0060227:Adams-Oliver syndrome 
6467361, mesp2, 0050568:spondylocostal dysostosis 
6467523, loxhd1, 0110525:autosomal recessive nonsyndromic deafness 77 
6467920, col17a1, 0060738:junctional epidermolysis bullosa non-Herlitz type 
6468378, sftpa1, 0050156:idiopathic pulmonary fibrosis 
6468586, myh14, 0110573:autosomal dominant nonsyndromic deafness 4A 
6468755, col10a1, 0080021:Schmid metaphyseal chondrodysplasia 
6485440, terc, 0070014:autosomal dominant dyskeratosis congenita 1 
6485444, atp6, 705:Leber hereditary optic neuropathy 
6485457, cox3, 3687:MELAS syndrome;705:Leber hereditary optic neuropathy 
6485476, nd5, 3687:MELAS syndrome;705:Leber hereditary optic neuropathy 
6485486, nd2, 705:Leber hereditary optic neuropathy 
6485500, nd4, 705:Leber hereditary optic neuropathy 
6485504, nd6, 3687:MELAS syndrome;705:Leber hereditary optic neuropathy 
6485508, nd4l, 705:Leber hereditary optic neuropathy 
6489425, tyrobp, 0090112:Nasu-Hakola disease 
6489512, krt12.6, 0060451:Meesmann corneal dystrophy 
6492031, tcof1, 2908:Treacher Collins syndrome 
6492057, tlr4, 0110022:age related macular degeneration 10 
6492273, cdkn1b, 0080137:multiple endocrine neoplasia type 4 
6492279, krt12.2, 0050428:nonepidermolytic palmoplantar keratoderma;0050449:pachyonychia congenita 
6539689, krt12.4, 0060451:Meesmann corneal dystrophy 
6540413, mmp13, 0080030:spondyloepimetaphyseal dysplasia, Missouri type 
12531593, cdh1, 10283:prostate cancer;10534:stomach cancer;1380:endometrial cancer;1612:breast cancer 
12563712, pcare, 0110364:retinitis pigmentosa 54 
12564474, glis2, 0111116:nephronophthisis 7 
12564498, col11a2, 0060465:fibrochondrogenesis;0080026:otospondylomegaepiphyseal dysplasia;0080046:Stickler syndrome;0110509:autosomal recessive nonsyndromic deafness 53;0110545:autosomal dominant nonsyndromic deafness 13 
12565276, cox14, 3762:cytochrome-c oxidase deficiency disease 
13579838, c12orf65, 0060286:combined oxidative phosphorylation deficiency 
13579896, blk, 0111109:maturity-onset diabetes of the young type 11 
18034121, rho.2, 0110862:congenital stationary night blindness autosomal dominant 1;11105:fundus albipunctatus 
18034125, tuba1a.2, 0050453:lissencephaly 
18386060, cyp27a1.3, 4810:cerebrotendinous xanthomatosis 
22041687, cat.3, 2582:acatalasia 
22041739, otog, 0110474:autosomal recessive nonsyndromic deafness 18B 
22060528, g6pc.3, 2749:glycogen storage disease I 
22060943, krt12.3, 0060451:Meesmann corneal dystrophy 
22062172, slc26a3.3, 0060296:congenital secretory chloride diarrhea 1 
22062176, slc26a4.1, 0050332:enlarged vestibular aqueduct;0060744:Pendred Syndrome;0110498:autosomal recessive nonsyndromic deafness 4 
22062180, slc26a4.2, 0050332:enlarged vestibular aqueduct;0060744:Pendred Syndrome;0110498:autosomal recessive nonsyndromic deafness 4 
22062346, cryba1.2, 0110258:cataract 10 multiple types 
22062971, slc6a4, 2030:anxiety disorder 
