Molekulargenetik | Molecular Genetics

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OMIM numberGenePossible Phenotypes
610627A2ML1Otitis media, susceptibility to
607922A4GALTBlood group, P1Pk system, P(2) phenotype; NOR polyagglutination syndrome; Blood group, P1Pk system, p phenotype
104000AA1Alopecia areata 1, Multifactorial
610753AA2Alopecia areata 2
100070AAA1Aortic aneurysm, familial abdominal 1
609782AAA2Aortic aneurysm, familial abdominal 2
611891AAA3Aneurysm, familial abdominal 3
614375AAA4Aortic aneurysm, familial abdominal 4
605378AAASAchalasia-addisonianism-alacrimia syndrome
614888AAGABKeratoderma, palmoplantar, punctate type IA
601065AARS1Developmental and epileptic encephalopathy 29; Charcot-Marie-Tooth disease, axonal, type 2N; Leukoencephalopathy, hereditary diffuse, with spheroids 2; Trichothiodystrophy 8, nonphotosensitive
612035AARS2Leukoencephalopathy, progressive, with ovarian failure; Combined oxidative phosphorylation deficiency 8
605113AASSHyperlysinemia
607086AAT1Aortic aneurysm, familial thoracic 1
607087AAT2Aortic aneurysm, familial thoracic 2
137150ABATGABA-transaminase deficiency
600046ABCA1Tangier disease; HDL deficiency, familial, 1
607800ABCA12Ichthyosis, congenital 4B (harlequin); Ichthyosis, congenital 4A
600047ABCA2Intellectual developmental disorder with poor growth and with or without seizures or ataxia
601615ABCA3Surfactant metabolism dysfunction, pulmonary, 3
601691ABCA4Retinal dystrophy, early-onset severe; Retinitis pigmentosa 19; Macular degeneration, age-related, 2; Cone-rod dystrophy 3; Fundus flavimaculatus; Stargardt disease 1
612503ABCA5Hypertrichosis, congenital generalized, with gingival hyperplasia
605414ABCA7Alzheimer disease 9, susceptibility to
171050ABCB1Encephalopathy, acute transient; Inflammatory bowel disease 13; Colchicine resistance
603201ABCB11Cholestasis, benign recurrent intrahepatic, 2; Cholestasis, progressive familial intrahepatic 2
171060ABCB4Gallbladder disease 1; Cholestasis, intrahepatic, of pregnancy, 3; Cholestasis, progressive familial intrahepatic 3
605452ABCB6Dyschromatosis universalis hereditaria 3; Blood group, Langereis system; Pseudohyperkalemia, familial, 2, due to red cell leak; Microphthalmia/coloboma 7
300135ABCB7Anemia, sideroblastic, with ataxia, X-linked
158343ABCC1Deafness 77
607040ABCC11Axillary odor, variation in; Earwax, wet/dry; Colostrum secretion, variation in
601107ABCC2Dubin-Johnson syndrome
603234ABCC6Pseudoxanthoma elasticum; Arterial calcification, generalized, of infancy, 2; Pseudoxanthoma elasticum, forme fruste
600509ABCC8Diabetes mellitus, permanent neonatal 3, with or without neurologic features; Diabetes mellitus, transient neonatal 2; Diabetes mellitus, noninsulin-dependent; Hypoglycemia of infancy, leucine-sensitive; Hyperinsulinemic hypoglycemia, familial, 1
601439ABCC9Cardiomyopathy, dilated, 1O; Hypertrichotic osteochondrodysplasia (Cantu syndrome); Atrial fibrillation, familial, 12; Intellectual disability and myopathy syndrome
300371ABCD1Adrenoleukodystrophy, X-linked recessive; Adrenomyeloneuropathy, adult, X-linked recessive
170995ABCD3Bile acid synthesis defect, congenital, 5
603214ABCD4Methylmalonic aciduria and homocystinuria, cblJ type
603756ABCG2Junior blood group system; Uric acid concentration, serum, QTL1, Autosomal dominant
605459ABCG5Sitosterolemia 2
605460ABCG8Sitosterolemia 1; Gallbladder disease 4
613599ABHD12Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
142620ABHD16ASpastic paraplegia 86
604780ABHD5Chanarin-Dorfman syndrome
189980ABL1Leukemia, Philadelphia chromosome-positive, resistant to imatinib, Somatic mutation; Congenital heart defects and skeletal malformations syndrome
110300ABOBlood group, ABO system
200350ACACAAcetyl-CoA carboxylase deficiency
604773ACAD8Isobutyryl-CoA dehydrogenase deficiency
611103ACAD9Mitochondrial complex I deficiency, nuclear type 20
607008ACADMAcyl-CoA dehydrogenase, medium chain, deficiency of
606885ACADSAcyl-CoA dehydrogenase, short-chain, deficiency of
600301ACADSB2-methylbutyrylglycinuria
609575ACADVLVLCAD deficiency
155760ACANSpondyloepiphyseal dysplasia, Kimberley type; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans; Spondyloepimetaphyseal dysplasia, aggrecan type
607809ACAT1Alpha-methylacetoacetic aciduria
100678ACAT2ACAT2 deficiency, Isolated cases
616618ACBD5Retinal dystrophy with leukodystrophy
616352ACBD6Neurodevelopmental disorder with progressive movement abnormalities
609377ACDDyskeratosis congenita 7; Dyskeratosis congenita 6
106180ACEStroke, hemorrhagic; Renal tubular dysgenesis; Myocardial infarction, susceptibility to; Microvascular complications of diabetes 3; Angiotensin I-converting enzyme, benign serum increase; SARS, progression of
617036ACER3Leukodystrophy, progressive, early childhood-onset
125520ACFCayler cardiofacial syndrome
100740ACHEBlood group, Yt system
613665ACKR1Blood group, Duffy system; White blood cell count QTL; Malaria, vivax, protection against
610376ACKR3Oculomotor-abducens synkinesis
100850ACO2Optic atrophy 9; Infantile cerebellar-retinal degeneration
609751ACOX1Mitchell syndrome; Peroxisomal acyl-CoA oxidase deficiency
601641ACOX2Bile acid synthesis defect, congenital, 6
171650ACP2Lysosomal acid phosphatase deficiency
606362ACP4Amelogenesis imperfecta, type IJ
171640ACP5Spondyloenchondrodysplasia with immune dysregulation
102480ACRSpermatogenic failure 87
605967ACRPSAcropectoral syndrome
102510ACRPVAcropectorovertebral dysplasia
614245ACSF3Combined malonic and methylmalonic aciduria
300157ACSL4Intellectual developmental disorder, X-linked 63, X-linked dominant
605677ACSL5Diarrhea 13
145505ACSM3Hypertension, essential
102610ACTA1Congenital myopathy 2B, severe infantile; Myopathy, scapulohumeroperoneal; Congenital myopathy 2C, severe infantile; Congenital myopathy 2A, typical
102620ACTA2Smooth muscle dysfunction syndrome; Aortic aneurysm, familial thoracic 6; Moyamoya disease 5
102630ACTBBaraitser-Winter syndrome 1; Becker nevus, syndromic or isolated, somatic mosaic; Thrombocytopenia 8, with dysmorphic features and developmental delay; Dystonia-deafness syndrome 1; Congenital smooth muscle hamartoma with or without hemihypertrophy, somatic mosaic
102540ACTC1Left ventricular noncompaction 4; Cardiomyopathy, hypertrophic, 11; Atrial septal defect 5; Cardiomyopathy, dilated, 1R
142700ACTDDevelopmental dysplasia of the hip 1, Multifactorial
102560ACTG1Deafness 20/26; Baraitser-Winter syndrome 2
102545ACTG2Megacystis-microcolon-intestinal hypoperistalsis syndrome 5; Visceral myopathy 1
612458ACTL6BDevelopmental and epileptic encephalopathy 76; Intellectual developmental disorder with severe speech and ambulation defects
604303ACTL7ASpermatogenic failure 86
619251ACTL9Spermatogenic failure 53
102575ACTN1Bleeding disorder, platelet-type, 15
102573ACTN2Myopathy, distal, 6, adult onset; Cardiomyopathy, hypertrophic, 23, with or without LVNC; Congenital myopathy 8; Cardiomyopathy, dilated, 1AA, with or without LVNC
102574ACTN3Sprinting performance; Alpha-actinin-3 deficiency
604638ACTN4Glomerulosclerosis, focal segmental, 1
102576ACVR1Fibrodysplasia ossificans progressiva
601300ACVR1BPancreatic cancer, somatic
602730ACVR2BHeterotaxy, visceral, 4, autosomal
601284ACVRL1Telangiectasia, hereditary hemorrhagic, type 2
104620ACY1Aminoacylase 1 deficiency
609636AD10Alzheimer disease-10
609790AD11Alzheimer disease-11
611073AD12Alzheimer disease 12
611152AD13Alzheimer disease-13
611154AD14Alzheimer disease-14
604154AD15Alzheimer disease-15
300756AD16Alzheimer disease 16
602096AD5Alzheimer disease-5
605526AD6Alzheimer disease 6
606187AD7Alzheimer disease-7
607116AD8Alzheimer disease 8
608958ADAAdenosine deaminase deficiency, partial, Somatic mosaicism; Severe combined immunodeficiency due to ADA deficiency, Somatic mosaicism
607575ADA2Sneddon syndrome; Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
602192ADAM10Alzheimer disease 18, susceptibility to; Reticulate acropigmentation of Kitamura
603639ADAM17Inflammatory skin and bowel disease, neonatal, 1
603709ADAM22Developmental and epileptic encephalopathy 61
602713ADAM9Cone-rod dystrophy 9
608990ADAMTS10Weill-Marchesani syndrome 1, recessive
604134ADAMTS13Thrombotic thrombocytopenic purpura, hereditary
607509ADAMTS15Arthrogryposis, distal, type 12
607511ADAMTS17Weill-Marchesani 4 syndrome, recessive
607512ADAMTS18Microcornea, myopic chorioretinal atrophy, and telecanthus
607513ADAMTS19Cardiac valvular dysplasia 2
604539ADAMTS2Ehlers-Danlos syndrome, dermatosparaxis type
605011ADAMTS3Hennekam lymphangiectasia-lymphedema syndrome 3
612277ADAMTSL2Geleophysic dysplasia 1
610113ADAMTSL4Ectopia lentis et pupillae; Ectopia lentis, isolated
146920ADARDyschromatosis symmetrica hereditaria; Aicardi-Goutieres syndrome 6
601218ADARB1Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
615302ADAT3Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies
103072ADCY1Deafness 44
605205ADCY10Hypercalciuria, absorptive, susceptibility to
600291ADCY3Obesity, susceptibility to, BMIQ19
600293ADCY5Dyskinesia with orofacial involvement; Neurodevelopmental disorder with hyperkinetic movements and dyskinesia; Dyskinesia with orofacial involvement
600294ADCY6Lethal congenital contracture syndrome 8
102680ADD1Hypertension, essential, salt-sensitive, Multifactorial
601568ADD3Cerebral palsy, spastic quadriplegic, 3
300700ADFNAlbinism-deafness syndrome, X-linked
606100ADGRE2Vibratory urticaria
604110ADGRG1Cortical dysplasia, complex, with other brain malformations 14B, (bilateral perisylvian); Cortical dysplasia, complex, with other brain malformations 14A, (bilateral frontoparietal)
300572ADGRG2Congenital bilateral absence of vas deferens, X-linked, X-linked
612243ADGRG6Lethal congenital contracture syndrome 9
616416ADGRL1Developmental delay, behavioral abnormalities, and neuropsychiatric disorders
602851ADGRV1Usher syndrome, type 2C, Digenic dominant; Usher syndrome, type 2C, GPR98/PDZD7 digenic, Digenic dominant; Febrile seizures, familial, 4
103720ADH1BAerodigestive tract cancer, squamous cell, alcohol-related, protection against, Multifactorial; Alcohol dependence, protection against, Multifactorial
103730ADH1CAlcohol dependence, protection against, Multifactorial; Parkinson disease, susceptibility to, Multifactorial
103710ADH5AMED syndrome, digenic, Digenic recessive
608903ADHD1Attention deficit-hyperactivity disorder, susceptibility to, 1
608904ADHD2Attention deficit-hyperactivity disorder, susceptibility to, 2
608905ADHD3Attention deficit-hyperactivity disorder, susceptibility to, 3
608906ADHD4Attention deficit-hyperactivity disorder, susceptibility to, 4
612311ADHD5Attention deficit-hyperactivity disorder, susceptibility to, 5
612312ADHD6Attention deficit-hyperactivity disorder, susceptibility to, 6
605441ADIPOQAdiponectin deficiency
606770ADIPQTL2Adiponectin, serum level of, QTL2
606771ADIPQTL3Adiponectin, serum level of, QTL3
612629ADIPQTL4Adiponectin, serum level of, QTL4
613836ADIPQTL5Adiponectin, serum level of, QTL5
102750ADKHypermethioninemia due to adenosine kinase deficiency
611386ADNPHelsmoortel-van der Aa syndrome
610624ADPRSNeurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
104210ADRA2ALipodystrophy, familial partial, type 8
109630ADRB1Short sleep, familial natural, 2; Resting heart rate
109690ADRB2Beta-2-adrenoreceptor agonist, reduced response to
109691ADRB3Obesity, susceptibility to, Multifactorial
608222ADSLAdenylosuccinase deficiency
612498ADSS1Myopathy, distal, 5
602981AEBP1Ehlers-Danlos syndrome, classic-like, 2
109200AFA1Alopecia, androgenetic, 1
300806AFF2Intellectual developmental disorder, X-linked 109, X-linked recessive
601464AFF3KINSSHIP syndrome
604417AFF4CHOPS syndrome
613940AFG2ANeurodevelopmental disorder with hearing loss, seizures, and brain abnormalities
619578AFG2BDeafness 119; Neurodevelopmental disorder with hearing loss and spasticity
604581AFG3L2Spastic ataxia 5; Optic atrophy 12; Spinocerebellar ataxia 28
104150AFPHereditary persistence of alpha-fetoprotein; Alpha-fetoprotein deficiency
613228AGAAspartylglucosaminuria
300710AGA2Alopecia, androgenetic, 2
612421AGA3Alopecia, androgenetic, 3
615496AGBL1Corneal dystrophy, Fuchs endothelial, 8
615900AGBL5Retinitis pigmentosa 75
610345AGKCataract 38; Sengers syndrome
610860AGLGlycogen storage disease IIIa; Glycogen storage disease IIIb
606228AGO1Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
606229AGO2Lessel-Kreienkamp syndrome
603100AGPAT2Lipodystrophy, congenital generalized, type 1
603051AGPSRhizomelic chondrodysplasia punctata, type 3
606358AGR2Respiratory infections, recurrent, and failure to thrive with or without diarrhea
103320AGRNMyasthenic syndrome, congenital, 8, with pre- and postsynaptic defects
602311AGRPLeanness, inherited, Multifactorial; Obesity, late-onset, Multifactorial
300652AGSPXAngio serpiginosum, X-linked dominant
106150AGTRenal tubular dysgenesis
606830AGTPBP1Neurodegeneration, childhood-onset, with cerebellar atrophy
106165AGTR1Hypertension, essential, Multifactorial; Renal tubular dysgenesis
604285AGXTHyperoxaluria, primary, type 1
612471AGXT2Beta-aminoisobutyric acid, urinary excretion of
180960AHCYHypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
615790AHDC1Xia-Gibbs syndrome
608894AHI1Joubert syndrome 3
600253AHRFoveal hypoplasia 3; Retinitis pigmentosa 85
138680AHSGAlopecia-intellectual disability syndrome 1
304050AICAicardi syndrome, X-linked dominant
605257AICDAImmunodeficiency with hyper-IgM, type 2
300169AIFM1Combined oxidative phosphorylation deficiency 6, X-linked recessive; Cowchock syndrome, X-linked recessive; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, X-linked recessive; Deafness, X-linked 5, X-linked recessive
301201AIH3Amelogenesis imperfecta, type IE, X-linked 2, X-linked
603605AIMP1Leukodystrophy, hypomyelinating, 3
600859AIMP2Leukodystrophy, hypomyelinating, 17
605555AIPPituitary adenoma 1, multiple types, Somatic mutation; Pituitary adenoma predisposition, Somatic mutation
604392AIPL1Leber congenital amaurosis 4; Retinitis pigmentosa, juvenile; Cone-rod dystrophy
601676AIRAcute insulin response
607358AIREAutoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
608391AIS2Autoimmune disease, susceptibility to, 2
608392AIS3Autoimmune disease, susceptibility to, 3
609400AIS4Autoimmune disease, susceptibility to, 4
608173AITD1Autoimmune thyroid disease, susceptibility to, 1
608174AITD2Autoimmune thyroid disease, susceptibility to, 2
608176AITD4Autoimmune thyroid disease, susceptibility to, 4
103000AK1Anemia, congenital, nonspherocytic hemolytic, 3, adenylate kinase deficient
103020AK2Reticular dysgenesis
615364AK7Spermatogenic failure 27
615358AK9Spermatogenic failure 89
604689AKAP3Spermatogenic failure 82
604001AKAP9Long QT syndrome 11
600450AKR1C246XY sex reversal 8
600451AKR1C446XY sex reversal 8, modifier of
604741AKR1D1Bile acid synthesis defect, congenital, 2
164730AKT1Breast cancer, somatic; Cowden syndrome 6; Colorectal cancer, somatic; Proteus syndrome, somatic; Ovarian cancer, somatic
164731AKT2Diabetes mellitus, type II; Hypoinsulinemic hypoglycemia with hemihypertrophy
611223AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
125270ALADPorphyria, acute hepatic; Lead poisoning, susceptibility to
301300ALAS2Anemia, sideroblastic, 1, X-linked recessive; Protoporphyria, erythropoietic, X-linked, X-linked
103600ALBDysalbuminemic hypertriiodothyroninemia; Analbuminemia; Dysalbuminemic hyperthyroxinemia
138250ALDH18A1Spastic paraplegia 9A; Cutis laxa, type IIIA; Spastic paraplegia 9B; Cutis laxa 3
603687ALDH1A2Diaphragmatic hernia 4, with cardiovascular defects
600463ALDH1A3Microphthalmia, isolated 8
100650ALDH2Esophageal cancer, alcohol-related, susceptibility to; Sublingual nitroglycerin, susceptibility to poor response to; Alcohol sensitivity, acute; Hangover, susceptibility to
609523ALDH3A2Sjogren-Larsson syndrome
606811ALDH4A1Hyperprolinemia, type II
610045ALDH5A1Succinic semialdehyde dehydrogenase deficiency
603178ALDH6A1Methylmalonate semialdehyde dehydrogenase deficiency
107323ALDH7A1Epilepsy, early-onset, 4, vitamin B6-dependent
103850ALDOAGlycogen storage disease XII
612724ALDOBFructose intolerance, hereditary
605907ALG1Congenital disorder of glycosylation, type Ik
603313ALG10BLong QT syndrome, acquired, reduced susceptibility to
613666ALG11Congenital disorder of glycosylation, type Ip
607144ALG12Congenital disorder of glycosylation, type Ig
300776ALG13Developmental and epileptic encephalopathy 36, X-linked
612866ALG14Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies; Myopathy, epilepsy, and progressive cerebral atrophy; Myasthenic syndrome, congenital, 15, without tubular aggregates
607905ALG2Congenital disorder of glycosylation, type Ii; Myasthenic syndrome, congenital, 14, with tubular aggregates
608750ALG3Congenital disorder of glycosylation, type Id
604565ALG5Polycystic kidney disease 7
604566ALG6Congenital disorder of glycosylation, type Ic
608103ALG8Congenital disorder of glycosylation, type Ih; Polycystic liver disease 3 with or without kidney cysts
606941ALG9Gillessen-Kaesbach-Nishimura syndrome; Congenital disorder of glycosylation, type Il
105590ALKNeuroblastoma, susceptibility to, 3
613306ALKBH8Intellectual developmental disorder 71
613065ALL1Leukemia, acute lymphocytic, susceptibility to, 1
613067ALL2Leukemia, acute lymphoblastic, susceptibility to, 2
606844ALMS1Alstrom syndrome
603741ALOX12BIchthyosis, congenital 2
152390ALOX5Atherosclerosis, susceptibility to; Asthma, diminished response to antileukotriene treatment in
603700ALOX5APStroke, susceptibility to, Multifactorial
607206ALOXE3Ichthyosis, congenital 3
607347ALPK1ROSAH syndrome
617608ALPK3Cardiomyopathy, familial hypertrophic 27
171760ALPLOdontohypophosphatasia; Hypophosphatasia, infantile; Hypophosphatasia, childhood; Hypophosphatasia, adult
171720ALPQTL1Alkaline phosphatase, plasma level of, QTL1, Autosomal dominant
612367ALPQTL2Alkaline phosphatase, plasma level of, QTL 2
612368ALPQTL3Alkaline phosphatase, plasma level of, QTL3
612369ALPQTL4Alkaline phosphatase, plasma level of, QTL4
606352ALS2Primary lateral sclerosis, juvenile; Spastic paralysis, infantile onset ascending; Amyotrophic lateral sclerosis 2, juvenile
606640ALS3Amyotrophic lateral sclerosis 3
608031ALS7Amyotrophic lateral sclerosis 7
601527ALX1Frontonasal dysplasia 3
606014ALX3Frontonasal dysplasia 1
605420ALX4Parietal foramina 2; Craniosynostosis 5, susceptibility to; Frontonasal dysplasia 2
604489AMACRAlpha-methylacyl-CoA racemase deficiency; Bile acid synthesis defect, congenital, 4
601259AMBNAmelogenesis imperfecta, type IF
300391AMELXAmelogenesis imperfecta, type 1E, X-linked dominant
300647AMER1Osteopathia striata with cranial sclerosis, X-linked dominant
603243AMFRSpastic paraplegia 89
600957AMHPersistent Mullerian duct syndrome, type I
600956AMHR2Persistent Mullerian duct syndrome, type II
300195AMMECR1Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, X-linked recessive
605799AMNImerslund-Grasbeck syndrome 2
102770AMPD1Myopathy due to myoadenylate deaminase deficiency
102771AMPD2Pontocerebellar hypoplasia, type 9; Spastic paraplegia 63
102772AMPD3AMP deaminase deficiency, erythrocytic
238310AMTGlycine encephalopathy 2
610912AMTNAmelogenesis imperfecta, type IIIB
608473ANAPC1Rothmund-Thomson syndrome, type 1
606949ANAPC7Ferguson-Bonni neurodevelopmental syndrome
606179ANBCAneurysmal bone cysts
105580ANCAnal canal carcinoma
105850ANGAmyotrophic lateral sclerosis 9
601667ANGPT1Angioedema, hereditary, 5
601922ANGPT2Lymphatic malformation 10
604774ANGPTL3Hypobetalipoproteinemia, familial, 2
605910ANGPTL4Plasma triglyceride level QTL, low
105800ANIB1Aneurysm, intracranial berry, 1
612587ANIB10Aneurysm, intracranial berry, 10
614252ANIB11Aneurysm, intracranial berry, 11
608542ANIB2Aneurysm, intracranial berry, 2
609122ANIB3Aneurysm, intracranial berry, 3
610213ANIB4Aneurysm, intracranial berry, 4
300870ANIB5Aneurysm, intracranial berry, 5
611892ANIB6Aneurysm, intracranial berry, 6
612161ANIB7Aneurysm, intracranial berry, 7
612162ANIB8Aneurysm, intracranial berry, 8
612586ANIB9Aneurysm, intracranial berry, 9
107200ANICAnosmia, isolated congenital
612641ANK1Spherocytosis, type 1
106410ANK2Long QT syndrome 4; Cardiac arrhythmia, ankyrin-B-related
600465ANK3Intellectual developmental disorder 37
605145ANKHChondrocalcinosis 2; Craniometaphyseal dysplasia
616062ANKLE2Microcephaly 16, primary
611192ANKRD11KBG syndrome
615929ANKRD17Chopra-Amiel-Gordon syndrome
610855ANKRD26Thrombocytopenia 2
615370ANKS6Nephronophthisis 16
616027ANLNFocal segmental glomerulosclerosis 8
605746ANMAAnisomastia
610108ANO1Moyamoya disease 7; Intestinal dysmotility syndrome
613726ANO10Spinocerebellar ataxia 10
610110ANO3Dystonia 24
608662ANO5Muscular dystrophy, limb-girdle 12; Miyoshi muscular dystrophy 3; Gnathodiaphyseal dysplasia
608663ANO6Scott syndrome
606788ANON1Anorexia nervosa, susceptibility to, 1
300836ANOS1Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), X-linked recessive
606410ANTXR1GAPO syndrome; Hemangioma, capillary infantile, susceptibility to
608041ANTXR2Hyaline fibromatosis syndrome
602572ANXA11Amyotrophic lateral sclerosis 23; Inclusion body myopathy and brain white matter abnormalities
131230ANXA5Pregnancy loss, recurrent, susceptibility to, 3
606049AOCHAcromegaloid features, overgrowth, cleft palate, and hernia
605552AOMS1Abdominal obesity-metabolic syndrome 1
605572AOMS2Abdominal obesity-metabolic syndrome
619600AOPEPDystonia 31
600157AP1B1Keratitis-ichthyosis-deafness syndrome
603533AP1G1Usmani-Riazuddin syndrome; Usmani-Riazuddin syndrome
603531AP1S1MEDNIK syndrome
300629AP1S2Pettigrew syndrome, X-linked recessive
615781AP1S3Psoriasis 15, pustular, susceptibility to
601024AP2M1Intellectual developmental disorder 60 with seizures
602242AP2S1Hypocalciuric hypercalcemia, type III
603401AP3B1Hermansky-Pudlak syndrome 2
602166AP3B2Developmental and epileptic encephalopathy 48
607246AP3D1Hermansky-Pudlak syndrome 10
607245AP4B1Spastic paraplegia 47
607244AP4E1Stuttering, familial persistent, 1; Spastic paraplegia 51
602296AP4M1Spastic paraplegia 50
607243AP4S1Spastic paraplegia 52
613653AP5Z1Spastic paraplegia 48
611731APCColorectal cancer, somatic; Brain tumor-polyposis syndrome 2; Desmoid disease, hereditary; Adenoma, periampullary, somatic; Hepatoblastoma, somatic; Gastric cancer, somatic; Gastric adenocarcinoma and proximal polyposis of the stomach; Gardner syndrome; Adenomatous polyposis coli
612034APC2Cortical dysplasia, complex, with other brain malformations 10; Intellectual developmental disorder 74
607479APCDD1Hypotrichosis 1
610422APMR2Alopecia-intellectual disability syndrome 2
613930APMR3Alopecia-intellectual disability syndrome 3
107680APOA1Hypoalphalipoproteinemia, primary, 2; Amyloidosis, hereditary systemic 3; Hypoalphalipoproteinemia, primary, 2, intermediate
107670APOA2Apolipoprotein A-II deficiency; Hypercholesterolemia, familial, modifier of
606368APOA5Hyperchylomicronemia, late-onset; Hypertriglyceridemia, susceptibility to
107730APOBHypercholesterolemia, familial, 2; Hypobetalipoproteinemia
608083APOC2Hyperlipoproteinemia, type Ib
107720APOC3Apolipoprotein C-III deficiency
107741APOEAlzheimer disease 2; Sea-blue histiocyte disease; Alzheimer disease, protection against, due to APOE3-Christchurch; Coronary artery disease, severe, susceptibility to; Lipoprotein glomerulopathy; Macular degeneration, age-related; Hyperlipoproteinemia, type III
603743APOL1Glomerulosclerosis, focal segmental, 4, susceptibility to
607252APOL2Schizophrenia
607254APOL4Schizophrenia
612456APOLD1Bleeding disorder, vascular-type
104760APPCerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants; Alzheimer disease 1, familial
604299APPL1Maturity-onset diabetes of the young, type 14
102600APRTAdenine phosphoribosyltransferase deficiency
606350APTXAtaxia, early-onset, with oculomotor apraxia and hypoalbuminemia
107776AQP1Aquaporin-1 deficiency; Blood group, Colton
107777AQP2Diabetes insipidus, nephrogenic, 2
600170AQP3Blood group GIL
600308AQP4Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting
600442AQP5Palmoplantar keratoderma, Bothnian type
602974AQP7Glycerol quantitative trait locus
313700ARAndrogen insensitivity, partial, with or without breast cancer, X-linked recessive; Spinal and bulbar muscular atrophy, X-linked 1, X-linked recessive; Prostate cancer, susceptibility to, X-linked; Androgen insensitivity, X-linked recessive; Hypospadias 1, X-linked, X-linked recessive
615022ARCI7Ichthyosis, congenital 7
600820ARCN1Short stature-micrognathia syndrome
103180ARF1Periventricular nodular heterotopia 8
604141ARFGEF1Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures
605371ARFGEF2Periventricular heterotopia with microcephaly
608313ARG1Argininemia
605370ARHGAP26Leukemia, juvenile myelomonocytic, somatic
610911ARHGAP31Adams-Oliver syndrome 1
601925ARHGDIANephrotic syndrome, type 8
601855ARHGEF1Immunodeficiency 62
608136ARHGEF10Slowed nerve conduction velocity, AD
616432ARHGEF18Retinitis pigmentosa 78
607560ARHGEF2Neurodevelopmental disorder with midbrain and hindbrain malformations
300429ARHGEF9Developmental and epileptic encephalopathy 8, X-linked
612448ARHI1Age-related hearing impairment 1
612976ARHI2Age-related hearing impairment 2
603024ARID1ACoffin-Siris syndrome 2
614556ARID1BCoffin-Siris syndrome 1
609539ARID2Coffin-Siris syndrome 6
608922ARL13BJoubert syndrome 8
601175ARL2Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1
615407ARL2BPRetinitis pigmentosa 82 with or without situs inversus
604695ARL3Retinitis pigmentosa 83; Joubert syndrome 35
608845ARL6Retinitis pigmentosa 55; Bardet-Biedl syndrome 1, modifier of, Digenic recessive; Bardet-Biedl syndrome 3
607669ARL6IP1Spastic paraplegia 61
620377ARMC12Spermatogenic failure 90
618424ARMC2Spermatogenic failure 38
615549ARMC5ACTH-independent macronodular adrenal hyperplasia 2, Somatic mutation
617612ARMC9Joubert syndrome 30
611313ARMS2Macular degeneration, age-related, 8
606036ARNT2Webb-Dattani syndrome
604223ARPC1BImmunodeficiency 71 with inflammatory disease and congenital thrombocytopenia
604226ARPC4Developmental delay, language impairment, and ocular abnormalities
604227ARPC5Immunodeficiency 133 with autoimmunity and autoinflammation
301770ARR3Myopia 26, X-linked, female-limited, X-linked
607574ARSAMetachromatic leukodystrophy
611542ARSBMucopolysaccharidosis type VI (Maroteaux-Lamy)
610008ARSGUsher syndrome, type IV
610011ARSKMucopolysaccharidosis, type X
300180ARSLChondrodysplasia punctata, X-linked recessive, X-linked recessive
110600ART4Blood group, Dombrock
611647ARV1Developmental and epileptic encephalopathy 38
602086ARVD3Arrhythmogenic right ventricular dysplasia 3
602087ARVD4Arrhythmogenic right ventricular dysplasia 4
604401ARVD6Arrhythmogenic right ventricular dysplasia 6
300382ARXProud syndrome, X-linked; Hydranencephaly with abnormal genitalia, X-linked; Partington syndrome, X-linked recessive; Developmental and epileptic encephalopathy 1, X-linked recessive; Lissencephaly, X-linked 2, X-linked; Intellectual developmental disorder, X-linked 29, X-linked recessive
613468ASAH1Spinal muscular atrophy with progressive myoclonic epilepsy; Farber lipogranulomatosis
615054ASB10Glaucoma 1, open angle, F
614215ASCC1Spinal muscular atrophy with congenital bone fractures 2; Barrett esophagus/esophageal adenocarcinoma
614217ASCC3Intellectual developmental disorder 81
108800ASD1Atrial septal defect 1
607999ASH1LIntellectual developmental disorder 52
600201ASIPSkin/hair/eye pigmentation 9, brown/nonbrown eyes; Skin/hair/eye pigmentation 9, dark/light hair
608310ASLArgininosuccinic aciduria
108370ASNSAsparagine synthetase deficiency
608034ASPACanavan disease
608638ASPG1Asperger syndrome susceptibility 1, Multifactorial, Isolated cases
608631ASPG2Asperger syndrome susceptibility 2, Multifactorial, Isolated cases
608781ASPG3Asperger syndrome susceptibility 3
609954ASPG4Asperger syndrome susceptibility 4
600582ASPHTraboulsi syndrome
605481ASPMMicrocephaly 5, primary
608135ASPNLumbar disc degeneration; Osteoarthritis susceptibility 3
611765ASPRV1Ichthyosis, lamellar
606236ASPSCR1Alveolar soft-part sarcoma
609958ASRT3Asthma-related traits, susceptibility to, 3
610906ASRT4Asthma-related traits, susceptibility to, 4
611403ASRT6Asthma-related traits, susceptibility to, 6
613207ASRT8Asthma-related traits, susceptibility to, 8
603470ASS1Citrullinemia
608860ASTLOocyte/zygote/embryo maturation arrest 11
612990ASXL1Myelodysplastic syndrome, somatic; Bohring-Opitz syndrome
612991ASXL2Shashi-Pena syndrome
615115ASXL3Bainbridge-Ropers syndrome
614452ATAD1Hyperekplexia 4
612316ATAD3AHarel-Yoon syndrome; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
608179ATCAYAtaxia, cerebellar, Cayman type
208500ATDShort-rib thoracic dysplasia 1 with or without polydactyly
605537ATF6Achromatopsia 7
608583ATFB1Atrial fibrillation, familial, 1
608988ATFB2Atrial fibrillation, familial, 2
611494ATFB5Atrial fibrillation, familial, 5
610767ATG16L1Inflammatory bowel disease (Crohn disease) 10
604261ATG5Spinocerebellar ataxia 25
608760ATG7Spinocerebellar ataxia 31
108725ATHSAtherosclerosis, susceptibility to
601731ATICAICA-ribosiduria due to ATIC deficiency
606439ATL1Spastic paraplegia 3A; Neuropathy, hereditary sensory, type ID
609369ATL3Neuropathy, hereditary sensory, type IF
607585ATMLymphoma, B-cell non-Hodgkin, somatic; Ataxia-telangiectasia; Breast cancer, susceptibility to, Somatic mutation; T-cell prolymphocytic leukemia, somatic; Lymphoma, mantle cell, somatic
607462ATN1Dentatorubral-pallidoluysian atrophy; Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
603165ATOD1Dermatitis, atopic, susceptibility to, 1
605804ATOD3Dermatitis, atopic, susceptibility to, 3
605844ATOD5Dermatitis, atopic, susceptibility to, 5
605845ATOD6Dermatitis, atopic, susceptibility to, 6
613064ATOD7Dermatitis, atopic, susceptibility to, 7
613518ATOD8Dermatitis, atopic, susceptibility to, 8
613519ATOD9Dermatitis, atopic, susceptibility to, 9
601461ATOH1Deafness 89
609875ATOH7Persistent hyperplastic primary vitreous
605868ATP11AAuditory neuropathy 2; Leukodystrophy, hypomyelinating, 24; Deafness 84
300516ATP11CHemolytic anemia, congenital, X-linked, X-linked recessive
610513ATP13A2Spastic paraplegia 78; Kufor-Rakeb syndrome
610232ATP13A3Pulmonary hypertension, primary, 5
182310ATP1A1Hypomagnesemia, seizures, and impaired intellectual development 2; Charcot-Marie-Tooth disease, axonal, type 2DD
182340ATP1A2Developmental and epileptic encephalopathy 98; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies; Alternating hemiplegia of childhood 1; Migraine, familial basilar; Migraine, familial hemiplegic, 2
182350ATP1A3Alternating hemiplegia of childhood 2; Dystonia-12; CAPOS syndrome; Developmental and epileptic encephalopathy 99
182330ATP1B1Blood pressure regulation QTL, Multifactorial
108730ATP2A1Brody myopathy
108740ATP2A2Acrokeratosis verruciformis; Darier disease
108731ATP2B1Intellectual developmental disorder 66
108733ATP2B2Deafness 82; Deafness 12, modifier of
300014ATP2B3Spinocerebellar ataxia, X-linked 1, X-linked recessive
604384ATP2C1Hailey-Hailey disease
164360ATP5F1AMitochondrial complex V (ATP synthase) deficiency, nuclear type 4A; Combined oxidative phosphorylation deficiency 22; Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B, encephalopathic type
102910ATP5F1BHypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2
603150ATP5F1DMitochondrial complex V (ATP synthase) deficiency
606153ATP5F1EMitochondrial complex V (ATP synthase) deficiency, nuclear type 3
602736ATP5MC3Dystonia, early-onset, and/or spastic paraplegia
615204ATP5MKMitochondrial complex V (ATP synthase) deficiency, nuclear type 6
600828ATP5POMitochondrial complex V (ATP synthase) deficiency, nuclear type 7
300197ATP6AP1Immunodeficiency 47, X-linked recessive
300556ATP6AP2Intellectual developmental disorder, X-linked syndromic, Hedera type, X-linked recessive; Parkinsonism with spasticity, X-linked, X-linked recessive; Congenital disorder of glycosylation, type IIr, X-linked recessive
192130ATP6V0A1Neurodevelopmental disorder with epilepsy and brain atrophy; Developmental and epileptic encephalopathy 104
611716ATP6V0A2Wrinkly skin syndrome; Cutis laxa, type IIA
605239ATP6V0A4Distal renal tubular acidosis 3, with or without sensorineural hearing loss
108745ATP6V0CEpilepsy, early-onset, 3, with or without developmental delay
607027ATP6V1ACutis laxa, type IID; Developmental and epileptic encephalopathy 93
192132ATP6V1B1Distal renal tubular acidosis 2 with progressive sensorineural hearing loss
606939ATP6V1B2Zimmermann-Laband syndrome 2; Deafness, congenital, with onychodystrophy
108746ATP6V1E1Cutis laxa, type IIC
300011ATP7AOccipital horn syndrome, X-linked recessive; Neuronopathy, distal hereditary motor, X-linked, X-linked recessive; Menkes disease, X-linked recessive
606882ATP7BWilson disease
605870ATP8A2Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4
602397ATP8B1Cholestasis, progressive familial intrahepatic 1; Cholestasis, intrahepatic, of pregnancy, 1; Cholestasis, benign recurrent intrahepatic
609126ATP9ANeurodevelopmental disorder with poor growth and behavioral abnormalities
608918ATPAF2Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
107320ATPLSAntiphospholipid syndrome, familial
601215ATRSeckel syndrome 1; Cutaneous telangiectasia and cancer syndrome, familial
300032ATRXAlpha-thalassemia myelodysplasia syndrome, somatic; Intellectual disability-hypotonic facies syndrome, X-linked, X-linked recessive; Alpha-thalassemia/impaired intellectual development syndrome, X-linked dominant
601556ATXN1Spinocerebellar ataxia 1
611150ATXN10Spinocerebellar ataxia 10
601517ATXN2Amyotrophic lateral sclerosis, susceptibility to, 13; Spinocerebellar ataxia 2; Parkinson disease, late-onset, susceptibility to, Multifactorial
607047ATXN3Parkinson disease, late-onset, susceptibility to, Multifactorial; Machado-Joseph disease
607640ATXN7Spinocerebellar ataxia 7
613289ATXN8Spinocerebellar ataxia 8
603680ATXN8OSParkinson disease, susceptibility to, Multifactorial; Spinocerebellar ataxia 8
600529AUH3-methylglutaconic aciduria, type I
603072AURKAColon cancer, susceptibility to, Somatic mutation
603495AURKCSpermatogenic failure 5
209850AUTS1Autism susceptibility 1, Multifactorial, Isolated cases
610836AUTS11Autism susceptibility 11
610838AUTS12Autism susceptibility 12
610908AUTS13Autism susceptibility 13
607270AUTS2Intellectual developmental disorder 26
608049AUTS3Autism susceptibility 3, Multifactorial, Isolated cases
609378AUTS6Autism susceptibility 6
610676AUTS7Autism susceptibility 7
607373AUTS8Autism susceptibility 8, Multifactorial, Isolated cases
613397AVILNephrotic syndrome, type 21
192340AVPDiabetes insipidus, neurohypophyseal
300538AVPR2Diabetes insipidus, nephrogenic, 1, X-linked recessive; Nephrogenic syndrome of inappropriate antidiuresis, X-linked recessive
606215AVSD1Atrioventricular septal defect, susceptibility to, 1
603816AXIN1Hepatocellular carcinoma, somatic; Craniometadiaphyseal osteosclerosis with hip dysplasia; Caudal duplication anomaly
604025AXIN2Colorectal cancer, somatic; Oligodontia-colorectal cancer syndrome
109700B2MAmyloidosis, hereditary systemic 6; Immunodeficiency 43
603094B3GALNT1Blood group, P1PK system, P(k) phenotype; Blood group, globoside system
610194B3GALNT2Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11
615291B3GALT6Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures; Al-Gazali syndrome
606374B3GAT3Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects
610308B3GLCTPeters-plus syndrome
601873B4GALNT1Spastic paraplegia 26
111730B4GALNT2Blood group, Sid system; Sd(a) polyagglutination syndrome
137060B4GALT1Combined low LDL and fibrinogen; Congenital disorder of glycosylation, type IId
604327B4GALT7Ehlers-Danlos syndrome, spondylodysplastic type, 1
605517B4GAT1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13
612957B6QTL1Vitamin B6 plasma level QTL 1
614144B9D1Meckel syndrome 9; Joubert syndrome 27
611951B9D2Meckel syndrome 10; Joubert syndrome 34
602938BAATBile acid conjugation defect 1
605394BACH2Immunodeficiency 60 and autoimmunity
603883BAG3Cardiomyopathy, dilated, 1HH; Myopathy, myofibrillar, 6
603885BAG5Cardiomyopathy, dilated, 2F
603811BANF1Nestor-Guillermo progeria syndrome
603089BAP1Kury-Isidor syndrome; Tumor predisposition syndrome 1; Uveal melanoma, susceptibility to, 2
601593BARD1Breast cancer, susceptibility to, Somatic mutation
600040BAXColorectal cancer, somatic; T-cell acute lymphoblastic leukemia, somatic
613605BBIP1Bardet-Biedl syndrome 18
209901BBS1Bardet-Biedl syndrome 1, Digenic recessive
610148BBS10Bardet-Biedl syndrome 10
610683BBS12Bardet-Biedl syndrome 12
606151BBS2Retinitis pigmentosa 74; Bardet-Biedl syndrome 2
600374BBS4Bardet-Biedl syndrome 4
603650BBS5Bardet-Biedl syndrome 5
607590BBS7Bardet-Biedl syndrome 7
607968BBS9Bardet-Biedl syndrome 9
612773BCAMBlood group, Lutheran system; Blood group, Auberger system; Blood group, Lutheran null
300398BCAP31Deafness, dystonia, and cerebral hypomyelination, X-linked recessive
607470BCAS3Hengel-Maroofian-Schols syndrome
113530BCAT2Hypervalinemia and hyperleucine-isoleucinemia
605462BCC1Basal cell carcinoma, susceptibility to, 1
613058BCC2Basal cell carcinoma, susceptibility to, 2
613059BCC3Basal cell carcinoma, susceptibility to, 3
613061BCC4Basal cell carcinoma, susceptibility to, 4
613062BCC5Basal cell carcinoma, susceptibility to, 5
613063BCC6Basal cell carcinoma, susceptibility to, 6
177400BCHEButyrylcholinesterase deficiency; Apnea, postanesthetic, susceptibility to, due to BCHE deficiency
608348BCKDHAMaple syrup urine disease, type Ia
248611BCKDHBMaple syrup urine disease, type Ib
614901BCKDKBranched-chain keto acid dehydrogenase kinase deficiency
603517BCL10Lymphoma, follicular, somatic; Immunodeficiency 37; Sezary syndrome, somatic; Male germ cell tumor, somatic; Lymphoma, MALT, somatic; Mesothelioma, somatic
606557BCL11ADias-Logan syndrome
606558BCL11BImmunodeficiency 49, severe combined; Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities
151430BCL2Leukemia/lymphoma, B-cell, 2
109560BCL3Leukemia/lymphoma, B-cell, 3
605748BCO1Hypercarotenemia and vitamin A deficiency
300485BCORMicrophthalmia, syndromic 2, X-linked dominant
300688BCORL1Shukla-Vernon syndrome, X-linked recessive
151410BCRLeukemia, chronic myeloid, Philadelphia chromosome positive, somatic; Leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic
603647BCS1LGRACILE syndrome; Mitochondrial complex III deficiency, nuclear type 1; Bjornstad syndrome
607004BDA1BBrachydactyly, type A1, B
605913BDETBleeding disorder, east Texas type
607012BDP1Deafness 112
614158BDPLT14Bleeding disorder, platelet-type, 14
614200BDPLT9Bleeding disorder, platelet-type, 9
612051BEAN1Spinocerebellar ataxia 31
300843BEDBornholm eye disease, X-linked recessive
607854BEST1Macular dystrophy, vitelliform, 2; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2; Retinitis pigmentosa-50; Retinitis pigmentosa, concentric; Vitreoretinochoroidopathy; Bestrophinopathy
605456BET1Muscular dystrophy, congenital, with rapid progression
601764BFIS1Seizures, benign familial infantile, 1
612627BFIS4Seizures, benign familial infantile, 4
603307BFSP1Cataract 33, multiple types
603212BFSP2Cataract 12, multiple types
301870BGNMeester-Loeys syndrome, X-linked; Spondyloepimetaphyseal dysplasia, X-linked, X-linked recessive
615416BHLHA9Camptosynpolydactyly, complex; Syndactyly, mesoaxial synostotic, with phalangeal reduction
606200BHLHE41Short sleep, familial natural, 1
614295BICC1Renal dysplasia, cystic, susceptibility to
609797BICD2Spinal muscular atrophy, lower extremity-predominant, 2B; Spinal muscular atrophy, lower extremity-predominant, 2A
605690BICRACoffin-Siris syndrome 12
601248BIN1Centronuclear myopathy 2
191305BLKMaturity-onset diabetes of the young, type 11
604610BLMBloom syndrome
604515BLNKAgammaglobulinemia 4
609762BLOC1S3Hermansky-Pudlak syndrome 8
607289BLOC1S5Hermansky-Pudlak syndrome 11
604310BLOC1S6Hermansky-Pudlak syndrome 9
611565BLTP1Alkuraya-Kucinskas syndrome
109750BLVRAHyperbiliverdinemia
606641BMIQ1Body mass index QTL1
612459BMIQ13Body mass index QTL13
612967BMIQ15Body mass index QTL 15
606643BMIQ2Body mass index QTL2
607446BMIQ3Body mass index QTL3
608558BMIQ5Body mass index QTL5
608559BMIQ6Body mass index QTL6
608410BMIQ7Obesity, susceptibility to, BMIQ7
603188BMIQ8Obesity, susceptibility to, BMIQ8
612113BMND10Bone mineral density QTL 10
612114BMND11Bone mineral density QTL 11
612727BMND13Bone mineral density QTL 13
612728BMND14Bone mineral density QTL 14
605833BMND2Bone mineral density QTL 2
606928BMND3Bone mineral density QTL 3
300536BMND4Bone mineral density QTL 4
609354BMND5Bone mineral density QTL 5
609876BMND6Bone mineral density QTL 6
611738BMND7Osteoporosis
611739BMND8Osteoporosis
612110BMND9Bone mineral density QTL 9
112264BMP1Osteogenesis imperfecta, type XIII
300247BMP15Premature ovarian failure 4, X-linked; Ovarian dysgenesis 2, X-linked
112261BMP2Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1; Brachydactyly, type A2; HFE hemochromatosis, modifier of
112262BMP4Orofacial cleft 11; Microphthalmia, syndromic 6
112266BMP6Iron overload, susceptibility to
608699BMPERDiaphanospondylodysostosis
601299BMPR1APolyposis syndrome, hereditary mixed, 2; Polyposis, juvenile intestinal
603248BMPR1BAcromesomelic dysplasia 3; Brachydactyly, type A2; Brachydactyly, type A1, D
600799BMPR2Pulmonary hypertension, familial primary, 1, with or without HHT; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated; Pulmonary venoocclusive disease 1
611448BMS1Aplasia cutis congenita, nonsyndromic
601930BNC1Premature ovarian failure 16
608669BNC2Lower urinary tract obstruction, congenital
613183BOLA3Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia
120502BOS2Branchiootic syndrome 2
613896BPGMErythrocytosis, familial, 8
614010BPNT2Chondrodysplasia with joint dislocations, GPAPP type
193007BPPVVestibulopathy, familial
601819BPTFNeurodevelopmental disorder with dysmorphic facies and distal limb anomalies; Kaposi sarcoma, susceptibility to
164757BRAFMelanoma, malignant, somatic; LEOPARD syndrome 3; Cardiofaciocutaneous syndrome; Adenocarcinoma of lung, somatic; Noonan syndrome 7; Colorectal cancer, somatic; Nonsmall cell lung cancer, somatic
614506BRAT1Neurodevelopmental disorder with cerebellar atrophy and with or without seizures; Rigidity and multifocal seizure syndrome, lethal neonatal
113705BRCA1Fanconi anemia, complementation group S; Breast-ovarian cancer, familial, 1, Multifactorial; Pancreatic cancer, susceptibility to, 4
600185BRCA2Fanconi anemia, complementation group D1; Glioblastoma 3; Medulloblastoma, Somatic mutation; Prostate cancer, Somatic mutation; Breast-ovarian cancer, familial, 2; Breast cancer, male, susceptibility to, Somatic mutation; Pancreatic cancer 2; Wilms tumor, Somatic mutation
608749BRD4Cornelia de Lange syndrome 6
602144BRDTSpermatogenic failure 21
604902BRF1Cerebellofaciodental syndrome
605882BRIP1Fanconi anemia, complementation group J; Breast cancer, early-onset, susceptibility to, Somatic mutation
602410BRPF1Intellectual developmental disorder with dysmorphic facies and ptosis
613106BRV2Vertigo, benign recurrent, 2
617824BRWD1Ciliary dyskinesia, primary, 51
300553BRWD3Intellectual developmental disorder, X-linked 93, X-linked recessive
606158BSCL2Lipodystrophy, congenital generalized, type 2; Neuronopathy, distal hereditary motor 13; Silver spastic paraplegia syndrome; Encephalopathy, progressive, with or without lipodystrophy
109480BSGBlood group, OK
606412BSNDSensorineural deafness with mild renal dysfunction; Bartter syndrome, type 4a
609656BSZQTLBone size QTL
609657BSZQTL2Bone size QTL
610649BSZQTL3Bone size quantitative trait locus 3
609019BTDBiotinidase deficiency
605673BTG4Oocyte/zygote/embryo maturation arrest 8
300300BTKAgammaglobulinemia, X-linked 1, X-linked recessive; Isolated growth hormone deficiency, type III, with agammaglobulinemia, X-linked recessive
606000BTNL2Sarcoidosis, susceptibility to, 2
602452BUB1Colorectal cancer with chromosomal instability, somatic; Microcephaly 30, primary
602860BUB1BColorectal cancer, somatic; Premature chromatid separation trait; Mosaic variegated aneuploidy syndrome 1
607499BULNBulimia nervosa, susceptibility to, Multifactorial
613459BWQTL2Birth weight QTL 2
615192BWQTL4Birth weight QTL4
615140C12orf57Temtamy syndrome
617307C14orf39Spermatogenic failure 52; Premature ovarian failure 18
619979C18orf32Glycosylphosphatidylinositol biosynthesis defect 25
614297C19orf12Neurodegeneration with brain iron accumulation 4; Spastic paraplegia 43
300611C1GALT1C1Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature, X-linked recessive; Tn polyagglutination syndrome, somatic
120550C1QAC1q deficiency 1
120570C1QBC1q deficiency 2
601269C1QBPCombined oxidative phosphorylation deficiency 33
120575C1QCC1q deficiency 3
608752C1QTNF5Retinal degeneration, late-onset
613785C1REhlers-Danlos syndrome, periodontal type, 1
120580C1SC1s deficiency; Ehlers-Danlos syndrome, periodontal type, 2
613927C2C2 deficiency; Macular degeneration, age-related, 14, reduced risk of, Digenic dominant
615944C2CD3Orofaciodigital syndrome XIV
619776C2CD6Spermatogenic failure 68
619219C2orf69Combined oxidative phosphorylation deficiency 53
120700C3C3 deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 5; Macular degeneration, age-related, 9
611956C3orf52Hypotrichosis 15
120810C4ABlood group, Rodgers; C4a deficiency
120820C4BC4B deficiency
120900C5C5 deficiency; Eculizumab, poor response to
217050C6C6 deficiency
217070C7C7 deficiency
120950C8AC8 deficiency, type I
120960C8BC8 deficiency, type II
120940C9C9 deficiency; Macular degeneration, age-related, 15, susceptibility to
614260C9orf72Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
603263CA12Hyperchlorhidrosis, isolated
611492CA2Osteopetrosis 3, with renal tubular acidosis
114761CA5AHyperammonemia due to carbonic anhydrase VA deficiency
114815CA8Spinocerebellar ataxia 34
607314CABP2Deafness 93
608965CABP4Cone-rod synaptic disorder, congenital nonprogressive
601011CACNA1ASpinocerebellar ataxia 6; Episodic ataxia, type 2; Developmental and epileptic encephalopathy 42; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia; Migraine, familial hemiplegic, 1
601012CACNA1BNeurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
114205CACNA1CTimothy syndrome; Long QT syndrome 8; Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures; Brugada syndrome 3
114206CACNA1DPrimary aldosteronism, seizures, and neurologic abnormalities; Sinoatrial node dysfunction and deafness
601013CACNA1EDevelopmental and epileptic encephalopathy 69
300110CACNA1FCone-rod dystrophy, X-linked, 3, X-linked recessive; Night blindness, congenital stationary (incomplete), 2A, X-linked, X-linked; Aland Island eye disease, X-linked
604065CACNA1GSpinocerebellar ataxia 42; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
607904CACNA1HEpilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV; Epilepsy, idiopathic generalized, susceptibility to, 6
608230CACNA1INeurodevelopmental disorder with speech impairment and with or without seizures
114208CACNA1SThyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18 due to dihydropyridine receptor defect; Hypokalemic periodic paralysis, type 1; Malignant hyperthermia susceptibility 5
114204CACNA2D1Developmental and epileptic encephalopathy 110
607082CACNA2D2Cerebellar atrophy with seizures and variable developmental delay
608171CACNA2D4Retinal cone dystrophy 4
600003CACNB2Brugada syndrome 4
601949CACNB4Epilepsy, juvenile myoclonic, susceptibility to, 6; Episodic ataxia, type 5; Epilepsy, idiopathic generalized, susceptibility to, 9
602911CACNG2Intellectual developmental disorder 10
114010CADDevelopmental and epileptic encephalopathy 50
609743CADM3Charcot-Marie-Tooth disease, axonal, type 2FF
114131CALCROsteoporosis, postmenopausal, susceptibility
114190CALCRLLymphatic malformation 8
114180CALM1Ventricular tachycardia, catecholaminergic polymorphic, 4; Long QT syndrome 14
114182CALM2Long QT syndrome 15
114183CALM3Long QT syndrome 16; Ventricular tachycardia, catecholaminergic polymorphic 6
109091CALRMyelofibrosis, somatic; Thrombocythemia, somatic
114078CAMK2AIntellectual developmental disorder 53; Intellectual developmental disorder 63
607707CAMK2BIntellectual developmental disorder 54
602123CAMK2GIntellectual developmental disorder 59
601118CAMLGCongenital disorder of glycosylation, type IIz
114200CAMPD1Camptodactyly 1
613774CAMSAP1Cortical dysplasia, complex, with other brain malformations 12
611501CAMTA1Cerebellar dysfunction with variable cognitive and behavioral abnormalities
114580CANDF1Candidiasis, familial, 1
607644CANDN1Candidiasis, familial, 3
613165CANT1Desbuquois dysplasia 1; Epiphyseal dysplasia, multiple, 7
618385CAP2Cardiomyopathy, dilated, 2I
114220CAPN1Spastic paraplegia 76
605286CAPN10Diabetes mellitus, noninsulin-dependent 1
603267CAPN15Oculogastrointestinal neurodevelopmental syndrome
114240CAPN3Muscular dystrophy, limb-girdle 1; Muscular dystrophy, limb-girdle 4
602537CAPN5Vitreoretinopathy, neovascular inflammatory
114170CAPNS1Pulmonary hypertension, primary, 6
601178CAPRIN1Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder; Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline
607209CARD10Immunodeficiency 89 and autoimmunity
607210CARD11B-cell expansion with NFKB and T-cell anergy; Immunodeficiency 11B with atopic dermatitis; Immunodeficiency 11A
607211CARD14Psoriasis 2; Pityriasis rubra pilaris
609051CARD8Inflammatory bowel disease (Crohn disease) 30
607212CARD9Immunodeficiency 103, susceptibility to fungal infection
610859CARMIL2Immunodeficiency 58
123859CARS1Microcephaly, developmental delay, and brittle hair syndrome
612800CARS2Combined oxidative phosphorylation deficiency 27
602606CARTPTObesity, susceptibility to, Multifactorial
300172CASKIntellectual developmental disorder, with or without nystagmus, X-linked recessive; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, X-linked; FG syndrome 4, X-linked recessive
601762CASP10Autoimmune lymphoproliferative syndrome, type II; Gastric cancer, somatic; Lymphoma, non-Hodgkin, somatic
608633CASP12Sepsis, susceptibility to
605848CASP14Ichthyosis, congenital 12
600639CASP2Intellectual developmental disorder 80, with variant lissencephaly
601763CASP8Breast cancer, protection against, Somatic mutation; Caspase 8 lymphadenopathy syndrome; Hepatocellular carcinoma, somatic; Lung cancer, protection against, Somatic mutation
114250CASQ1Myopathy, vacuolar, with CASQ1 aggregates
114251CASQ2Ventricular tachycardia, catecholaminergic polymorphic, 2
601199CASRHypocalcemia, with Bartter syndrome; Hyperparathyroidism, neonatal; Hypocalcemia; Hypocalciuric hypercalcemia, type I; Epilepsy idiopathic generalized, susceptibility to, 8
114090CASTPeeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
115500CATAcatalasemia
619387CATIPSpermatogenic failure 54
606389CATSPER1Spermatogenic failure 7
601047CAV1Lipodystrophy, congenital generalized, type 3; Pulmonary hypertension, primary, 3; Lipodystrophy, familial partial, type 7
601253CAV3Myopathy, distal, Tateyama type; Creatine phosphokinase, elevated serum; Cardiomyopathy, familial hypertrophic, Digenic dominant; Rippling muscle disease 2; Long QT syndrome 9
603198CAVIN1Lipodystrophy, congenital generalized, type 4
121360CBFBCleidocranial dysplasia 2
165360CBLNoonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; Juvenile myelomonocytic leukemia, Somatic mutation
604491CBLBAutoimmune disease, multisystem, infantile-onset, 3
609342CBLIFIntrinsic factor deficiency
613381CBSThrombosis, hyperhomocysteinemic; Homocystinuria, B6-responsive and nonresponsive types
602770CBX246XY sex reversal 5
610055CC2D1AIntellectual developmental disorder 3
612013CC2D2ACOACH syndrome 2; Retinitis pigmentosa 93; Meckel syndrome 6; Joubert syndrome 9
115660CCA1Cataract 7
600668CCAL1Chondrocalcinosis with early-onset osteoarthritis
612753CCBE1Hennekam lymphangiectasia-lymphedema syndrome 1
300864CCCSXCerebral-cerebellar-coloboma syndrome, X-linked, X-linked recessive
614677CCDC103Ciliary dyskinesia, primary, 17
613734CCDC115Congenital disorder of glycosylation, type IIo
618788CCDC134Osteogenesis imperfecta, type XXII
619829CCDC146Spermatogenic failure 94
616735CCDC174Hypotonia, infantile, with psychomotor retardation
300859CCDC22Ritscher-Schinzel syndrome 2, X-linked recessive
613040CCDC26Glioma susceptibility 7
610162CCDC28BBardet-Biedl syndrome 1, modifier of, Digenic recessive
618941CCDC32Cardiofacioneurodevelopmental syndrome
612324CCDC34Spermatogenic failure 76
613798CCDC39Ciliary dyskinesia, primary, 14
613799CCDC40Ciliary dyskinesia, primary, 15
618260CCDC47Trichohepatoneurodevelopmental syndrome
611051CCDC50Deafness 44
613481CCDC62Spermatogenic failure 67
611088CCDC65Ciliary dyskinesia, primary, 27
614666CCDC78Centronuclear myopathy 4
614145CCDC83-M syndrome 3
609736CCDC88APEHO syndrome-like
611204CCDC88CSpinocerebellar ataxia 40; Hydrocephalus, congenital, 1
603960CCINSpermatogenic failure 91
601156CCL11Asthma, susceptibility to; HIV1, resistance to
158105CCL2Mycobacterium tuberculosis, susceptibility to; HIV-1, resistance to; Coronary artery disease, modifier of; Spina bifida, susceptibility to
182283CCL3HIV infection, resistance to
601395CCL3L1HIV/AIDS, susceptibility to
187011CCL5HIV-1 disease, rapid progression of; HIV-1 disease, delayed progression of
607929CCM2Cerebral cavernous malformations-2
603400CCN6Progressive pseudorheumatoid dysplasia
168461CCND1von Hippel-Lindau syndrome, modifier of; Colorectal cancer, susceptibility to, Somatic mutation; Multiple myeloma, susceptibility to, Somatic mutation
123833CCND2Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
600227CCNFFrontotemporal dementia and/or amyotrophic lateral sclerosis 5
603544CCNKIntellectual developmental disorder with hypertelorism and distinctive facies
607752CCNOCiliary dyskinesia, primary, 29
300708CCNQSTAR syndrome, X-linked dominant
601267CCR2HIV infection, susceptibility/resistance to; Polycystic lung disease
601373CCR5HIV infection, susceptibility/resistance to; Diabetes mellitus, insulin-dependent, 22; Hepatitis C virus, resistance to; West nile virus, susceptibility to
610150CCT5Neuropathy, hereditary sensory, with spastic paraplegia
115665CCVCataract 8, multiple types
602243CD151Blood group, Raph; Epidermolysis bullosa simplex 7, with nephropathy and deafness
603356CD164Deafness 66
107265CD19Immunodeficiency, common variable, 3
604862CD207Birbeck granule deficiency
604672CD209HIV type 1, susceptibility to; Mycobacterium tuberculosis, susceptibility to; Dengue fever, protection against
605554CD244Rheumatoid arthritis, susceptibility to
186780CD247Immunodeficiency 25
186711CD27Lymphoproliferative syndrome 2
186760CD28Immunodeficiency 123 with HPV-related verrucosis
604241CD2APGlomerulosclerosis, focal segmental, 3
606475CD320Methylmalonic aciduria, transient, due to transcobalamin receptor defect
173510CD36Platelet glycoprotein IV deficiency; Coronary heart disease, susceptibility to, 7; Malaria, cerebral, susceptibility to; Malaria, cerebral, reduced risk of
186790CD3DImmunodeficiency 19, severe combined
186830CD3EImmunodeficiency 18; Immunodeficiency 18, SCID variant
186740CD3GImmunodeficiency 17, CD3 gamma deficient
186940CD4Immunodeficiency 79; OKT4 epitope deficiency
109535CD40Immunodeficiency with hyper-IgM, type 3
300386CD40LGImmunodeficiency, X-linked, with hyper-IgM, X-linked recessive
107269CD44Blood group, Indian system
120920CD46Hemolytic uremic syndrome, atypical, susceptibility to, 2
125240CD55Blood group Cromer; Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy
107271CD59Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy
602840CD70Lymphoproliferative syndrome 3
112205CD79AAgammaglobulinemia 3
147245CD79BAgammaglobulinemia 6
186845CD81Immunodeficiency, common variable, 6
186910CD8AImmunodeficiency 116
606037CD96C syndrome
607465CDAN1Dyserythropoietic anemia, congenital, type Ia
603504CDC14ADeafness 32, with or without immotile sperm
603618CDC20Oocyte/zygote/embryo maturation arrest 14
605585CDC40Pontocerebellar hypoplasia, type 15
116952CDC42Takenouchi-Kosaki syndrome
614062CDC42BPBChilton-Okur-Chung neurodevelopmental syndrome
603465CDC45Meier-Gorlin syndrome 7
602627CDC6Meier-Gorlin syndrome 5
607393CDC73Hyperparathyroidism, familial primary; Parathyroid adenoma with cystic changes; Parathyroid carcinoma; Hyperparathyroidism-jaw tumor syndrome
609937CDCA7Immunodeficiency-centromeric instability-facial anomalies syndrome 3
192090CDH1Ovarian cancer, somatic; Blepharocheilodontic syndrome 1; Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate; Endometrial carcinoma, somatic; Breast cancer, lobular, somatic
600023CDH11Teebi hypertelorism syndrome 2; Elsahy-Waters syndrome
114019CDH15Intellectual developmental disorder 3
114020CDH2Arrhythmogenic right ventricular dysplasia 14; Attention deficit-hyperactivity disorder 8; Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
605516CDH23Usher syndrome, type 1D, Digenic recessive; Pituitary adenoma 5, multiple types; Usher syndrome, type 1D/F digenic, Digenic recessive; Deafness 12
114021CDH3Hypotrichosis, congenital, with juvenile macular dystrophy; Ectodermal dysplasia, ectrodactyly, and macular dystrophy
609502CDHR1Macular dystrophy, retinal; Cone-rod dystrophy 15; Retinitis pigmentosa 65
615626CDIN1Dyserythropoietic anemia, congenital, type Ib
603464CDK10Al Kaissi syndrome
603309CDK13Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
614720CDK19Developmental and epileptic encephalopathy 87
123829CDK4Melanoma, cutaneous malignant, 3
123831CDK5Lissencephaly 7 with cerebellar hypoplasia
608201CDK5RAP2Microcephaly 3, primary
603368CDK6Microcephaly 12, primary
603184CDK8Intellectual developmental disorder with hypotonia and behavioral abnormalities
300203CDKL5Developmental and epileptic encephalopathy 2, X-linked dominant
600778CDKN1BMultiple endocrine neoplasia, type IV
600856CDKN1CIMAGE syndrome; Beckwith-Wiedemann syndrome
600160CDKN2AMelanoma and neural system tumor syndrome; Melanoma, cutaneous malignant, 2; Melanoma-pancreatic cancer syndrome
608707CDONHoloprosencephaly 11
602593CDSNHypotrichosis 2; Peeling skin syndrome 1
605525CDT1Meier-Gorlin syndrome 4
614591CEACAM16Deafness 4B; Deafness 113
116897CEBPALeukemia, acute myeloid, somatic; Leukemia, acute myeloid, Somatic mutation
600749CEBPEImmunodeficiency 108 with autoinflammation; Specific granule deficiency
114840CELMaturity-onset diabetes of the young, type VIII
609443CELA2AAbdominal obesity-metabolic syndrome 4
602538CELF2Developmental and epileptic encephalopathy 97
612008CELIAC10Celiac disease, susceptibility to, 10
612009CELIAC11Celiac disease, susceptibility to, 11
612010CELIAC12Celiac disease, susceptibility to, 12
612011CELIAC13Celiac disease, susceptibility to, 13
609754CELIAC2Celiac disease, susceptibility to, 2
607202CELIAC5Celiac disease, susceptibility to, 5
611598CELIAC6Autoimmune disease, susceptibility to, 5; Celiac disease, susceptibility to, 6
612005CELIAC7Celiac disease, susceptibility to, 7
612006CELIAC8Celiac disease, susceptibility to, 8
612007CELIAC9Celiac disease, susceptibility to, 9
604523CELSR1Lymphatic malformation 9
620142CENATACMosaic variegated aneuploidy syndrome 4
117143CENPEMicrocephaly 13, primary
600236CENPFStromme syndrome
609279CENPJMicrocephaly 6, primary; Seckel syndrome 4
611510CENPTShort stature and microcephaly with genital anomalies
616690CEP104Joubert syndrome 25; Intellectual developmental disorder 77
618980CEP112Spermatogenic failure 44
613446CEP120Short-rib thoracic dysplasia 13 with or without polydactyly; Joubert syndrome 31
611423CEP135Microcephaly 8, primary
613529CEP152Microcephaly 9, primary; Seckel syndrome 5
614848CEP164Nephronophthisis 15
615586CEP19Morbid obesity and spermatogenic failure
609689CEP250Cone-rod dystrophy and hearing loss 2
610142CEP290Leber congenital amaurosis 10; Joubert syndrome 5; Senior-Loken syndrome 6; Bardet-Biedl syndrome 14; Meckel syndrome 4
617728CEP295Seckel syndrome 11
610523CEP41Joubert syndrome 15
605392CEP43Myeloproliferative disorder
610000CEP55Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly
607951CEP57Mosaic variegated aneuploidy syndrome 2
614724CEP63Seckel syndrome 6
617110CEP78Cone-rod dystrophy and hearing loss
615847CEP83Nephronophthisis 18
618865CEP85LLissencephaly 10
608381CERKLRetinitis pigmentosa 26
606919CERS1Epilepsy, progressive myoclonic, 8
615276CERS3Ichthyosis, congenital 9
604677CERT1Intellectual developmental disorder 34
114835CES1Drug metabolism, altered, CES1-related
118470CETPHigh density lipoprotein cholesterol level QTL 10; Hyperalphalipoproteinemia
618146CFAP251Spermatogenic failure 33
615494CFAP298Ciliary dyskinesia, primary, 26
618058CFAP300Ciliary dyskinesia, primary, 38
603191CFAP410Retinal dystrophy with macular staphyloma; Spondylometaphyseal dysplasia, axial
614477CFAP418Retinitis pigmentosa 64; Cone-rod dystrophy 16; Bardet-Biedl syndrome 21
617558CFAP43Hydrocephalus, normal pressure, 1; Spermatogenic failure 19
617559CFAP44Spermatogenic failure 20
605152CFAP45Heterotaxy, visceral, 11, autosomal, with male infertility
301057CFAP47Spermatogenic failure, X-linked 3, X-linked recessive
609804CFAP52Heterotaxy, visceral, 10, autosomal, with male infertility
614759CFAP53Heterotaxy, visceral, 6
614259CFAP57Spermatogenic failure 95
619129CFAP58Spermatogenic failure 49
620381CFAP61Spermatogenic failure 84
614270CFAP65Spermatogenic failure 40
617949CFAP69Spermatogenic failure 24
618661CFAP70Spermatogenic failure 41
620187CFAP74Ciliary dyskinesia, primary, 49, without situs inversus
609910CFAP91Spermatogenic failure 51
138470CFBComplement factor B deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 4; Macular degeneration, age-related, 14, reduced risk of, Digenic dominant
605194CFC1Heterotaxy, visceral, 2, autosomal
134350CFDComplement factor D deficiency
134370CFHMacular degeneration, age-related, 4; Basal laminar drusen; Complement factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1
134371CFHR1Macular degeneration, age-related, reduced risk of; Hemolytic uremic syndrome, atypical, susceptibility to
605336CFHR3Macular degeneration, age-related, reduced risk of; Hemolytic uremic syndrome, atypical, susceptibility to
608593CFHR5Nephropathy due to CFHR5 deficiency
217030CFIHemolytic uremic syndrome, atypical, susceptibility to, 3; Macular degeneration, age-related, 13, susceptibility to; Complement factor I deficiency
601443CFL2Nemaline myopathy 7
603855CFM1Meconium ileus in cystic fibrosis, susceptibility to
300383CFPProperdin deficiency, X-linked, X-linked recessive
300712CFSSCraniofacioskeletal syndrome, X-linked dominant, X-linked recessive
300580CFTDXMyopathy, congenital, with fiber-type disproportion, X-linked, X-linked dominant
602421CFTRCystic fibrosis; Sweat chloride elevation without CF; Congenital bilateral absence of vas deferens; Pancreatitis, hereditary; Bronchiectasis with or without elevated sweat chloride 1, modifier of; Hypertrypsinemia, neonatal
300082CGF1Social cognition, X-linked
616327CHAMP1Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features
118490CHATMyasthenic syndrome, congenital, 6, presynaptic
615903CHCHD10Myopathy, isolated mitochondrial; Spinal muscular atrophy, Jokela type; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
616244CHCHD2Parkinson disease 22
602118CHD1Pilarowski-Bjornsson syndrome
602119CHD2Developmental and epileptic encephalopathy 94
602120CHD3Snijders Blok-Campeau syndrome
603277CHD4Sifrim-Hitz-Weiss syndrome
610771CHD5Parenti-Mignot neurodevelopmental syndrome
608892CHD7Hypogonadotropic hypogonadism 5 with or without anosmia; CHARGE syndrome
610528CHD8Intellectual developmental disorder with autism and macrocephaly
607339CHDS1Coronary heart disease, susceptibility to
608316CHDS2Coronary heart disease, susceptibility to, 2
300464CHDS3Coronary heart disease, susceptibility to, 3
608318CHDS4Coronary heart disease, susceptibility to, 4
611139CHDS8Coronary heart disease, susceptibility to, 8
612030CHDS9Coronary heart disease, susceptibility to, 9
614954CHDT3Congenital heart defects, multiple types, 3
603078CHEK1Oocyte/zygote/embryo maturation arrest 21
604373CHEK2Prostate cancer, somatic; Osteosarcoma, somatic; Tumor predisposition syndrome 4, breast/prostate/colorectal
601525CHI3L1Asthma-related traits, susceptibility to, 7; Schizophrenia, susceptibility to
604332CHIC2Leukemia, acute myeloid, Somatic mutation
600031CHIT1Chitotriosidase deficiency
118491CHKANeurodevelopmental disorder with microcephaly, movement abnormalities, and seizures
612395CHKBMuscular dystrophy, congenital, megaconial type
300390CHMChoroideremia, X-linked
164010CHMP1APontocerebellar hypoplasia, type 8
609512CHMP2BFrontotemporal dementia and/or amyotrophic lateral sclerosis 7
610897CHMP4BCataract 31, multiple types
118423CHN1Duane retraction syndrome 2
606988CHP1Spastic ataxia 9
300350CHRDL1Megalocornea 1, X-linked, X-linked recessive
118494CHRM3Prune belly syndrome
100690CHRNA1Myasthenic syndrome, congenital, 1B, fast-channel; Myasthenic syndrome, congenital, 1A, slow-channel; Multiple pterygium syndrome, lethal type
118502CHRNA2Epilepsy, nocturnal frontal lobe, type 4
118503CHRNA3Lung cancer susceptibility 2; Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT
118504CHRNA4Nicotine addiction, susceptibility to; Epilepsy, nocturnal frontal lobe, 1
118505CHRNA5Nicotine dependence, susceptibility to; Lung cancer susceptibility 2
100710CHRNB1Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency; Myasthenic syndrome, congenital, 2A, slow-channel
118507CHRNB2Epilepsy, nocturnal frontal lobe, 3
100720CHRNDMyasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency; Multiple pterygium syndrome, lethal type; Myasthenic syndrome, congenital, 3B, fast-channel; Myasthenic syndrome, congenital, 3A, slow-channel
100725CHRNEMyasthenic syndrome, congenital, 4A, slow-channel; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency; Myasthenic syndrome, congenital, 4B, fast-channel
100730CHRNGMultiple pterygium syndrome, lethal type; Escobar syndrome
610128CHST11Osteochondrodysplasia, brachydactyly, and overlapping malformed digits
608429CHST14Ehlers-Danlos syndrome, musculocontractural type 1
603799CHST3Spondyloepiphyseal dysplasia with congenital joint dislocations
605294CHST6Macular corneal dystrophy
608183CHSY1Temtamy preaxial brachydactyly syndrome
600664CHUKPopliteal pterygium syndrome, Bartsocas-Papas type 2; Cocoon syndrome
604333CIAO1Multiple mitochondrial dysfunctions syndrome 10
602293CIB1Epidermodysplasia verruciformis, susceptibility to, 3
605564CIB2Deafness 48; Usher syndrome, type IJ
617273CIBAR1Polydactyly, postaxial, type A9
612082CICIntellectual developmental disorder 45
612120CIDECLipodystrophy, familial partial, type 5
613290CIHLHearing loss, cisplatin-induced, susceptibility to
600005CIITARheumatoid arthritis, susceptibility to; MHC class II deficiency 1
608646CILD4Ciliary dyskinesia, primary, 4
612274CILD8Ciliary dyskinesia, primary, 8
612325CILK1Epilepsy, juvenile myoclonic, susceptibility to, 10; Endocrine-cerebroosteodysplasia
603489CILPLumbar disc disease, susceptibility to
608447CIMTCarotid intimal medial thickness
611109CINNCinnamon odor, pleasantness of
619703CIROPHeterotaxy, visceral, 12, autosomal
611507CISD2Wolfram syndrome 2
602441CISHMalaria, susceptibility to; Bacteremia, susceptibility to; Tuberculosis, susceptibility to
605629CITMicrocephaly 17, primary
602937CITED2Atrial septal defect 8; Ventricular septal defect 2
616174CKAP2LFilippi syndrome
123270CKBECreatine kinase, brain type, ectopic expression of
608029CLA3Spinocerebellar ataxia 6
617539CLCC1Retinitis pigmentosa 32
607672CLCF1Cold-induced sweating syndrome 2
118425CLCN1Myotonia congenita, recessive; Myotonia congenita, dominant; Myotonia levior
600570CLCN2Leukoencephalopathy with ataxia; Hyperaldosteronism, familial, type II; Epilepsy, juvenile myoclonic, susceptibility to, 8; Epilepsy, juvenile absence, susceptibility to, 2; Epilepsy, idiopathic generalized, susceptibility to, 11
600580CLCN3Neurodevelopmental disorder with seizures and brain abnormalities; Neurodevelopmental disorder with hypotonia and brain abnormalities
302910CLCN4Raynaud-Claes syndrome, X-linked dominant
300008CLCN5Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, X-linked recessive; Hypophosphatemic rickets, X-linked recessive; Dent disease 1, X-linked recessive; Nephrolithiasis, type I, X-linked recessive
602726CLCN6Ceroid lipofuscinosis, neuronal, 15
602727CLCN7Hypopigmentation, organomegaly, and delayed myelination and development; Osteopetrosis 4; Osteopetrosis 2
602024CLCNKABartter syndrome, type 4b, digenic, Digenic recessive
602023CLCNKBBartter syndrome, type 3; Bartter syndrome, type 4b, digenic, Digenic recessive
603718CLDN1Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
617579CLDN10HELIX syndrome
601326CLDN11Leukodystrophy, hypomyelinating, 22
605608CLDN14Deafness 29
603959CLDN16Hypomagnesemia 3, renal
610036CLDN19Hypomagnesemia 5, renal, with ocular involvement
300520CLDN2Azoospermia, obstructive, with nephrolithiasis, X-linked recessive
615799CLDN9Deafness 116
606782CLEC1AAspergillosis, susceptibility to
187520CLEC3BMacular dystrophy, retinal, 4
606264CLEC7ACandidiasis, familial, 4; Aspergillosis, susceptibility to
607293CLIC5Deafness 103
609630CLLS1Leukemia, chronic lymphocytic, susceptibility to, 1
109543CLLS2Leukemia, chronic lymphocytic, susceptibility to, 2
612557CLLS3Leukemia, chronic lymphocytic, susceptibility to, 3
612558CLLS4Leukemia, chronic lymphocytic susceptibility to, 4
612559CLLS5Leukemia, chronic lymphocytic susceptibility to, 5
611693CLMPCongenital short bowel syndrome
607042CLN3Ceroid lipofuscinosis, neuronal, 3
608102CLN5Ceroid lipofuscinosis, neuronal, 5
606725CLN6Ceroid lipofuscinosis, neuronal, 6B (Kufs type); Ceroid lipofuscinosis, neuronal, 6A
607837CLN8Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant; Ceroid lipofuscinosis, neuronal, 8
608757CLP1Pontocerebellar hypoplasia, type 10
616254CLPBNeutropenia, severe congenital, 9; 3-methylglutaconic aciduria, type VIIB; 3-methylglutaconic aciduria, type VIIA
601119CLPPPerrault syndrome 3
615611CLPXProtoporphyria, erythropoietic, 2
604595CLQTL1Cholesterol level QTL 1
610760CLQTL2Cholesterol level QTL 2
606397CLRN1Usher syndrome, type 3A; Retinitis pigmentosa 61
618988CLRN2Deafness 117
118955CLTCIntellectual developmental disorder 56
619564CLXNCiliary dyskinesia, primary, 53
600884CMD1BCardiomyopathy, dilated 1B
604288CMD1HCardiomyopathy, dilated, 1H
605582CMD1KCardiomyopathy, dilated, 1K
609915CMD1QCardiomyopathy, dilated, 1Q
614676CMH21Cardiomyopathy, hypertrophic, 21
155600CMMMelanoma, cutaneous malignant, 1
608035CMM4Melanoma, cutaneous malignant, 4
612263CMM7Melanoma, cutaneous malignant, 7
607731CMT2HCharcot-Marie-Tooth disease, axonal, type 2H
620378CMTD1ACharcot-Marie-Tooth disease, dominant intermediate A
616182CMTSChronic mountain sickness, susceptibility to
302801CMTX2Charcot-Marie-Tooth neuropathy, X-linked recessive, 2, X-linked recessive
121400CNA1Cornea plana 1
116955CNBPMyotonic dystrophy 2
605244CNC2Carney complex, type II
304730CNDDermoids of cornea, X-linked
123825CNGA1Retinitis pigmentosa 49
600053CNGA3Achromatopsia 2
600724CNGB1Retinitis pigmentosa 45
605080CNGB3Achromatopsia 3
300724CNKSR2Intellectual developmental disorder, X-linked syndromic, Houge type, X-linked
607803CNNM2Hypomagnesemia 6, renal; Hypomagnesemia, seizures, and impaired intellectual development 1
607805CNNM4Jalili syndrome
604917CNOT1Vissers-Bodmer syndrome; Holoprosencephaly 12, with or without pancreatic agenesis
604909CNOT2Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
604910CNOT3Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
123830CNPLeukodystrophy, hypomyelinating, 20
610774CNPY3Developmental and epileptic encephalopathy 60
212200CNSNCarnosinemia
600016CNTN1Congenital myopathy 12
190197CNTN2Epilepsy, early-onset, 5, with or without developmental delay
602346CNTNAP1Lethal congenital contracture syndrome 7; Hypomyelinating neuropathy, congenital, 3
604569CNTNAP2Pitt-Hopkins like syndrome 1; Autism susceptibility 15
614775COA3Mitochondrial complex IV deficiency, nuclear type 14
613920COA5Mitochondrial complex IV, deficiency, nuclear type 9
614772COA6Mitochondrial complex IV deficiency, nuclear type 13
615623COA7Spinocerebellar ataxia, with axonal neuropathy 3
616003COA8Mitochondrial complex IV deficiency, nuclear type 17
609855COASYPontocerebellar hypoplasia, type 12; Neurodegeneration with brain iron accumulation 6
603196COCHDeafness 9; Deafness 110
300085COD2Cone dystrophy, progressive X-linked, 2, X-linked
606973COG1Congenital disorder of glycosylation, type IIg
606974COG2Congenital disorder of glycosylation, type IIq
606975COG3Congenital disorder of glycosylation, type IIbb
606976COG4Congenital disorder of glycosylation, type IIj; Saul-Wilson syndrome
606821COG5Congenital disorder of glycosylation, type IIi
606977COG6Shaheen syndrome; Congenital disorder of glycosylation, type IIl
606978COG7Congenital disorder of glycosylation, type IIe
606979COG8Congenital disorder of glycosylation, type IIh
120110COL10A1Metaphyseal chondrodysplasia, Schmid type
120280COL11A1Fibrochondrogenesis 1; Stickler syndrome, type II; Marshall syndrome; Deafness 37; Lumbar disc herniation, susceptibility to
120290COL11A2Deafness 13; Otospondylomegaepiphyseal dysplasia; Fibrochondrogenesis 2; Deafness 53; Otospondylomegaepiphyseal dysplasia
120320COL12A1Bethlem myopathy 2; Ullrich congenital muscular dystrophy 2
120350COL13A1Myasthenic syndrome, congenital, 19
113811COL17A1Epithelial recurrent erosion dystrophy; Epidermolysis bullosa, junctional 4, intermediate
120328COL18A1Knobloch syndrome, type 1; Glaucoma, primary closed-angle
120150COL1A1Osteogenesis imperfecta, type II; Caffey disease; Ehlers-Danlos syndrome, arthrochalasia type, 1; Osteogenesis imperfecta, type I; Bone mineral density variation QTL, osteoporosis; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1; Osteogenesis imperfecta, type IV; Osteogenesis imperfecta, type III
120160COL1A2Osteogenesis imperfecta, type III; Osteoporosis, postmenopausal; Ehlers-Danlos syndrome, arthrochalasia type, 2; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2; Ehlers-Danlos syndrome, cardiac valvular type; Osteogenesis imperfecta, type IV; Osteogenesis imperfecta, type II
610004COL25A1Fibrosis of extraocular muscles, congenital, 5
608461COL27A1Steel syndrome
120140COL2A1Vitreoretinopathy with phalangeal epiphyseal dysplasia; Czech dysplasia; Achondrogenesis, type II or hypochondrogenesis; Spondyloperipheral dysplasia; SMED Strudwick type; Epiphyseal dysplasia, multiple, with myopia and deafness; SED congenita; Kniest dysplasia; Stickler syndrome, type I, nonsyndromic ocular; Osteoarthritis with mild chondrodysplasia; Stickler syndrome, type I; Platyspondylic skeletal dysplasia, Torrance type; Spondyloepiphyseal dysplasia, Stanescu type; Avascular necrosis of the femoral head; Legg-Calve-Perthes disease
120180COL3A1Ehlers-Danlos syndrome, vascular type; Polymicrogyria with or without vascular-type EDS
120130COL4A1Retinal arteries, tortuosity of; Hemorrhage, intracerebral, susceptibility to; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Microangiopathy and leukoencephalopathy, pontine; Brain small vessel disease with or without ocular anomalies
120090COL4A2Brain small vessel disease 2; Hemorrhage, intracerebral, susceptibility to
120070COL4A3Alport syndrome 3A; Hematuria, benign familial, 2; Alport syndrome 3B
120131COL4A4Hematuria, familial benign, 1; Alport syndrome 2
303630COL4A5Alport syndrome 1, X-linked, X-linked dominant
303631COL4A6Deafness, X-linked 6, X-linked recessive
120215COL5A1Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal
120190COL5A2Ehlers-Danlos syndrome, classic type, 2
120220COL6A1Ullrich congenital muscular dystrophy 1A; Bethlem myopathy 1A
120240COL6A2Myosclerosis, congenital; Ullrich congenital muscular dystrophy 1B; Bethlem myopathy 1B
120250COL6A3Bethlem myopathy 1C; Ullrich congenital muscular dystrophy 1C; Dystonia 27
120120COL7A1Nail disorder, nonsyndromic congenital, 8; Epidermolysis bullosa dystrophica, Bart type; Epidermolysis bullosa dystrophica inversa; Epidermolysis bullosa dystrophica; Epidermolysis bullosa, pretibial; Epidermolysis bullosa dystrophica; Transient bullous of the newborn; Epidermolysis bullosa pruriginosa; Epidermolysis bullosa dystrophica, localisata variant
120252COL8A2Corneal dystrophy, posterior polymorphous 2; Corneal dystrophy, Fuchs endothelial, 1
120210COL9A1Stickler syndrome, type IV; Epiphyseal dysplasia, multiple, 6
120260COL9A2Epiphyseal dysplasia, multiple, 2; Stickler syndrome, type V
120270COL9A3Intervertebral disc disease, susceptibility to; Epiphyseal dysplasia, multiple, 3, with or without myopathy; Stickler syndrome, type VI
607620COLEC103MC syndrome 3
612502COLEC113MC syndrome 2
617531COLGALT1Brain small vessel disease 3
603033COLQMyasthenic syndrome, congenital, 5
257550COMAOculomotor apraxia, congenital, Cogan-type
600310COMPPseudoachondroplasia; Carpal tunnel syndrome 2; Epiphyseal dysplasia, multiple, 1
116790COMTSchizophrenia, susceptibility to; Panic disorder, susceptibility to, Autosomal dominant
601924COPAAutoimmune interstitial lung, joint, and kidney disease
600959COPB1Baralle-Macken syndrome
606990COPB2Osteoporosis, childhood- or juvenile-onset, with developmental delay; Microcephaly 19, primary
606963COPDPulmonary disease, chronic obstructive, severe early-onset
609825COQ2Multiple system atrophy, susceptibility to; Coenzyme Q10 deficiency, primary, 1
612898COQ4Coenzyme Q10 deficiency, primary, 7; Spastic ataxia 10
616359COQ5Coenzyme Q10 deficiency, primary, 9
614647COQ6Coenzyme Q10 deficiency, primary, 6
601683COQ7Coenzyme Q10 deficiency, primary, 8; Neuronopathy, distal hereditary motor 9
606980COQ8ACoenzyme Q10 deficiency, primary, 4
615567COQ8BNephrotic syndrome, type 9
612837COQ9Coenzyme Q10 deficiency, primary, 5
600624CORD1Cone-rod retinal dystrophy-1
615163CORD17Cone-rod dystrophy 17
605549CORD8Cone-rod dystrophy 8
605236CORINCardiomyopathy, familial hypertrophic, 30, atrial; Preeclampsia/eclampsia 5
605000CORO1AImmunodeficiency 8
602125COX10Mitochondrial complex IV deficiency, nuclear type 3
603648COX11Mitochondrial complex IV deficiency, nuclear type 23
614478COX14Mitochondrial complex IV deficiency, nuclear type 10
603646COX15Mitochondrial complex IV deficiency, nuclear type 6
618064COX16Mitochondrial complex IV deficiency, nuclear type 22
614698COX20Mitochondrial complex IV deficiency, nuclear type 11
123864COX4I1Mitochondrial complex IV deficiency, nuclear type 16
607976COX4I2Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
603773COX5AMitochondrial complex IV deficiency, nuclear type 20
602072COX6A1Charcot-Marie-Tooth disease, recessive intermediate D
602009COX6A2Mitochondrial complex IV deficiency, nuclear type 18
124089COX6B1Mitochondrial complex IV deficiency, nuclear type 7
300885COX7BLinear skin defects with multiple congenital anomalies 2, X-linked dominant
123870COX8AMitochondrial complex IV deficiency, nuclear type 15
117700CPAceruloplasminemia
609562CPA6Febrile seizures, familial, 11; Epilepsy, familial temporal lobe, 5
608841CPAMD8Anterior segment dysgenesis 8
605388CPAT1Cerebral palsy, ataxic
114855CPEBDV syndrome
614571CPLANE1Orofaciodigital syndrome VI; Joubert syndrome 17
605032CPLX1Developmental and epileptic encephalopathy 63
603103CPN1Carboxypeptidase N deficiency
612732CPOXCoproporphyria; Harderoporphyria
611920CPROTQC-reactive protein QTL
608307CPS1Carbamoylphosphate synthetase I deficiency; Pulmonary hypertension, neonatal, susceptibility to
606027CPSF1Myopia 27
606029CPSF3Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
600528CPT1ACPT deficiency, hepatic, type IA
608846CPT1CSpastic paraplegia 73
600650CPT2Encephalopathy, acute, infection-induced, 4, susceptibility to; CPT II deficiency, infantile; CPT II deficiency, lethal neonatal; CPT II deficiency, myopathic, stress-induced
120620CR1Blood group, Knops system; Malaria, severe, resistance to
120650CR2Systemic lupus erythematosus, susceptibility to, 9; Immunodeficiency, common variable, 7
603454CRADDIntellectual developmental disorder 34, with variant lissencephaly
600184CRATNeurodegeneration with brain iron accumulation 8
604210CRB1Leber congenital amaurosis 8; Retinitis pigmentosa-12; Pigmented paravenous chorioretinal atrophy
609720CRB2Focal segmental glomerulosclerosis 9; Ventriculomegaly with cystic kidney disease
609262CRBNIntellectual developmental disorder 2
607135CRCLCreatinine clearance QTL
612592CRCS11Colorectal cancer, susceptibility to, 11
611469CRCS2Colorectal cancer, susceptibility to, 2
612230CRCS5Colorectal cancer, susceptibility to, 5
612231CRCS6Colorectal cancer, susceptibility to, 6
612232CRCS7Colorectal cancer, susceptibility to, 7
612589CRCS8Colorectal cancer, susceptibility to, 8
612590CRCS9Colorectal cancer, susceptibility to, 9
123810CREB1Histiocytoma, angiomatoid fibrous, somatic
616215CREB3L1Osteogenesis imperfecta, type XVI
611998CREB3L3Hypertriglyceridemia 2
600140CREBBPMenke-Hennekam syndrome 1; Rubinstein-Taybi syndrome 1
607170CRELD1Atrioventricular septal defect, partial, with heterotaxy syndrome; Jeffries-Lakhani neurodevelopmental syndrome; Atrioventricular septal defect, susceptibility to, 2
604594CRIPTRothmund-Thomson syndrome, type 3
604237CRLF1Cold-induced sweating syndrome 1
608188CRLS1Combined oxidative phosphorylation deficiency 57
614631CRPPAMuscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
600593CRSACraniosynostosis, Adelaide type, Autosomal dominant
605497CRTAPOsteogenesis imperfecta, type VII
607536CRTC1Mucoepidermoid salivary gland carcinoma
602225CRXLeber congenital amaurosis 7; Cone-rod retinal dystrophy-2
601933CRY1Delayed sleep phase disorder, susceptibility to
123580CRYAACataract 9, multiple types
123590CRYABMyopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related; Myopathy, myofibrillar, 2; Cataract 16, multiple types; Cardiomyopathy, dilated, 1II
123610CRYBA1Cataract 10, multiple types
600836CRYBA2Cataract 42
123631CRYBA4Cataract 23
600929CRYBB1Cataract 17, multiple types
123620CRYBB2Cataract 3, multiple types
123630CRYBB3Cataract 22
123670CRYGBCataract 39, multiple types
123680CRYGCCataract 2, multiple types
123690CRYGDCataract 4, multiple types
123730CRYGSCataract 20, multiple types
123740CRYMDeafness 40
164770CSF1RBrain abnormalities, neurodegeneration, and dysosteosclerosis; Leukoencephalopathy, diffuse hereditary, with spheroids 1
306250CSF2RASurfactant metabolism dysfunction, pulmonary, 4, Pseudoautosomal recessive
138981CSF2RBSurfactant metabolism dysfunction, pulmonary, 5
138971CSF3RNeutropenia, severe congenital, 7; Neutrophilia, hereditary
616615CSGALNACT1Skeletal dysplasia, mild, with joint laxity and advanced bone age
150200CSH1Placental lactogen deficiency
600864CSNK1DAdvanced sleep-phase syndrome, familial, 2
115440CSNK2A1Okur-Chung neurodevelopmental syndrome
115441CSNK2BPoirier-Bienvenu neurodevelopmental syndrome
611654CSPP1Joubert syndrome 21
600824CSRP3Cardiomyopathy, dilated, 1M; Cardiomyopathy, hypertrophic, 12
604312CST3Macular degeneration, age-related, 11; Cerebral amyloid angiopathy
601891CST6Ectodermal dysplasia 15, hypohidrotic/hair type
184600CSTAPeeling skin syndrome 4
601145CSTBEpilepsy, progressive myoclonic 1A (Unverricht and Lundborg)
300907CSTF2Intellectual developmental disorder, X-linked 113, X-linked recessive
301105CT55Spermatogenic failure, X-linked, 7, X-linked recessive
115650CTAA1Cataract 32, multiple types
601202CTAA2Cataract 24, anterior polar
602618CTBP1Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
613129CTC1Cerebroretinal microangiopathy with calcifications and cysts
604167CTCFIntellectual developmental disorder 21
604927CTDP1Congenital cataracts, facial dysmorphism, and neuropathy
612862CTEPH1Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to
607657CTHCystathioninuria
610635CTHRC1Barrett esophagus/esophageal adenocarcinoma
123890CTLA4Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation; Diabetes mellitus, insulin-dependent, 12; Celiac disease, susceptibility to, 3; Hashimoto thyroiditis; Systemic lupus erythematosus, susceptibility to
116805CTNNA1Macular dystrophy, patterned, 2
114025CTNNA2Cortical dysplasia, complex, with other brain malformations 9
607667CTNNA3Arrhythmogenic right ventricular dysplasia 13
116806CTNNB1Exudative vitreoretinopathy 7; Pilomatricoma, somatic; Colorectal cancer, somatic; Neurodevelopmental disorder with spastic diplegia and visual defects; Medulloblastoma, somatic; Ovarian cancer, somatic; Hepatocellular carcinoma, somatic
611537CTNNBL1Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
601045CTNND1Blepharocheilodontic syndrome 2
606272CTNSCystinosis, nephropathic; Cystinosis, ocular nonnephropathic; Cystinosis, late-onset juvenile or adolescent nephropathic; Cystinosis, atypical nephropathic
605749CTPL1Cataract 26, multiple types
123860CTPS1Immunodeficiency 24
601405CTRCPancreatitis, chronic, susceptibility to
605728CTRCT25Cataract 25
607304CTRCT27Cataract 27, nuclear progressive
609026CTRCT28Cataract 28, age-related cortical, susceptibility to
115800CTRCT29Cataract 29, coralliform
609376CTRCT35Cataract 35, congenital nuclear
614422CTRCT37Cataract 37
613111CTSAGalactosialidosis
116810CTSBKeratolytic winter erythema
602365CTSCPeriodontitis 1, juvenile; Haim-Munk syndrome; Papillon-Lefevre syndrome
116840CTSDCeroid lipofuscinosis, neuronal, 10
603539CTSFCeroid lipofuscinosis, neuronal, 13 (Kufs type)
601105CTSKPycnodysostosis
617057CTU2Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
602997CUBNProteinuria, chronic benign; Imerslund-Grasbeck syndrome 1
603136CUL3Neurodevelopmental disorder with or without autism or seizures; Pseudohypoaldosteronism, type IIE
300304CUL4BIntellectual developmental disorder, X-linked syndromic, Cabezas type, X-linked recessive
609577CUL73-M syndrome 1
116896CUX1Global developmental delay with or without impaired intellectual development
610648CUX2Developmental and epileptic encephalopathy 67
300471CVMRFCubitus valgus with impaired intellectual development and unusual facies, X-linked recessive
617170CWC27Retinitis pigmentosa with or without skeletal anomalies
616120CWF19L1Spinocerebellar ataxia 17
601470CX3CR1Rapid progression to AIDS from HIV1 infection; Macular degeneration, age-related, 12; Coronary artery disease, resistance to
600835CXCL12AIDS, resistance to
146929CXCR1AIDS, slow progression to
146928CXCR2WHIM syndrome 2
162643CXCR4WHIM syndrome 1; Myelokathexis, isolated
600019CYB561Orthostatic hypotension 2
613218CYB5AMethemoglobinemia and ambiguous genitalia
613213CYB5R3Methemoglobinemia, type I; Methemoglobinemia, type II
608508CYBAChronic granulomatous disease 4
300481CYBBImmunodeficiency 34, mycobacteriosis, X-linked, X-linked recessive; Chronic granulomatous disease, X-linked, X-linked recessive
618334CYBC1Chronic granulomatous disease 5
123980CYC1Mitochondrial complex III deficiency, nuclear type 6
123970CYCSThrombocytopenia 4
606323CYFIP2Developmental and epileptic encephalopathy 65
300768CYLC1Spermatogenic failure, X-linked, 8, susceptibility to, X-linked
605018CYLDBrooke-Spiegler syndrome; Cylindromatosis, familial; Trichoepithelioma, multiple familial, 1; Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
153880CYMDMacular dystrophy, dominant cystoid
118485CYP11A1Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete
610613CYP11B1Aldosteronism, glucocorticoid-remediable; Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
124080CYP11B2Hypoaldosteronism, congenital, due to CMO I deficiency; Aldosterone to renin ratio raised; Low renin hypertension, susceptibility to; Hypoaldosteronism, congenital, due to CMO II deficiency
609300CYP17A117,20-lyase deficiency, isolated; 17-alpha-hydroxylase/17,20-lyase deficiency
107910CYP19A1Aromatase deficiency; Aromatase excess syndrome
601771CYP1B1Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset; Anterior segment dysgenesis 6, multiple subtypes
613815CYP21A2Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency; Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
126065CYP24A1Hypercalcemia, infantile, 1
605207CYP26B1Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies
608428CYP26C1Focal facial dermal dysplasia 4
606530CYP27A1Cerebrotendinous xanthomatosis
609506CYP27B1Vitamin D-dependent rickets, type I
122720CYP2A6Lung cancer, resistance to, Somatic mutation; Coumarin resistance; Nicotine addiction, protection from
123930CYP2B6Efavirenz central nervous system toxicity, susceptibility to; Efavirenz, poor metabolism of
124020CYP2C19Proguanil poor metabolizer; Mephenytoin poor metabolizer; Clopidogrel, impaired responsiveness to; Omeprazole poor metabolizer
601129CYP2C8Drug metabolism, altered, CYP2C8-related
601130CYP2C9Warfarin sensitivity; Tolbutamide poor metabolizer
124030CYP2D6Codeine sensitivity; Debrisoquine sensitivity
608713CYP2R1Rickets due to defect in vitamin D 25-hydroxylation deficiency
610670CYP2U1Spastic paraplegia 56
124010CYP3A4Vitamin D-dependent rickets, type 3
605325CYP3A5Hypertension, salt-sensitive essential, susceptibility to, Multifactorial
611495CYP4F22Ichthyosis, congenital 5
608614CYP4V2Bietti crystalline corneoretinal dystrophy
603711CYP7B1Spastic paraplegia 5A; Bile acid synthesis defect, congenital, 3
609186D2HGDHD-2-hydroxyglutaric aciduria
606627DAAM2Nephrotic syndrome, type 24
603448DAB1Spinocerebellar ataxia 37
607861DACT1Townes-Brocks syndrome 2
128239DAG1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9
614015DAGLANeuroocular syndrome 2, paroxysmal type
618904DALRD3Developmental and epileptic encephalopathy 86
607408DAOASchizophrenia
603084DARS1Hypomyelination with brainstem and spinal cord involvement and leg spasticity
610956DARS2Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
620279DAW1Ciliary dyskinesia, primary, 52
601486DAZLSpermatogenic failure, susceptibility to
606129DBA2Diamond-Blackfan anemia 2
609312DBHOrthostatic hypotension 1, due to DBH deficiency
607024DBR1Xerosis and growth failure with immune and pulmonary dysfunction syndrome; Encephalitis, acute, infection (viral)-induced, susceptibility to, 11
248610DBTMaple syrup urine disease, type II
612515DCAF17Woodhouse-Sakati syndrome
615820DCAF8Giant axonal neuropathy 2
120470DCCMirror movements 1 and/or agenesis of the corpus callosum; Esophageal carcinoma, somatic; Colorectal cancer, somatic; Gaze palsy, familial horizontal, with progressive scoliosis, 2
605755DCDC2Nephronophthisis 19; Deafness 66; Sclerosing cholangitis, neonatal
603057DCHS1Mitral valve prolapse 2; Van Maldergem syndrome 1
609683DCLRE1BDyskeratosis congenita 8
605988DCLRE1CSevere combined immunodeficiency, Athabascan type; Omenn syndrome
125255DCNCorneal dystrophy, congenital stromal
610534DCPSAl-Raqad syndrome
191275DCTOculocutaneous albinism, type VIII
601143DCTN1Perry syndrome; Amyotrophic lateral sclerosis, susceptibility to; Neuronopathy, distal hereditary motor 14
300121DCXSubcortical laminal heterotopia, X-linked, X-linked; Lissencephaly, X-linked, X-linked
608347DCXRPentosuria
600045DDB1White-Kernohan syndrome
600811DDB2Xeroderma pigmentosum, group E, DDB-negative subtype
107930DDCAromatic L-amino acid decarboxylase deficiency
615674DDD3Dowling-Degos disease 3
615612DDH2Developmental dysplasia of the hip 2
614603DDHD1Spastic paraplegia 28
615003DDHD2Spastic paraplegia 54
602202DDOSTCongenital disorder of glycosylation, type Ir
191311DDR2Warburg-Cinotti syndrome; Spondylometaepiphyseal dysplasia, short limb-hand type
616177DDRGK1Spondyloepimetaphyseal dysplasia, Shohat type
601150DDX11Warsaw breakage syndrome
300160DDX3XIntellectual developmental disorder, X-linked syndromic, Snijders Blok type, X-linked dominant, X-linked recessive
608170DDX41Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to
615464DDX59Orofaciodigital syndrome V
600326DDX6Intellectual developmental disorder with impaired language and dysmorphic facies
602635DEAF1Vulto-van Silfout-de Vries syndrome; Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures
610094DEF6Immunodeficiency 87 and autoimmunity
615843DEGS1Leukodystrophy, hypomyelinating, 18
125264DEKLeukemia, acute nonlymphocytic
617278DENND5ADevelopmental and epileptic encephalopathy 49
614191DEPDC5Epilepsy, familial focal, with variable foci 1; Developmental and epileptic encephalopathy 111
125660DESScapuloperoneal syndrome, neurogenic, Kaeser type; Cardiomyopathy, dilated, 1I; Myopathy, myofibrillar, 1
300719DFCTRPSDeafness, cataract, retinitis pigmentosa, and sperm abnormalities, X-linked recessive
603964DFNA16Deafness 16
606012DFNA18Deafness 18
606282DFNA24Deafness 24
606451DFNA30Deafness 30
608645DFNA31Deafness 31
608394DFNA43Deafness 43
608652DFNA47Deafness 47
608372DFNA49Deafness 49
609965DFNA53Deafness 53
615649DFNA54Deafness 54
612642DFNA59Deafness 59
603098DFNB13Deafness 13
603678DFNB14Deafness 14
603010DFNB17Deafness 17
604060DFNB20Deafness 20
605818DFNB27Deafness 27
607239DFNB33Deafness 33
608219DFNB38Deafness 38
608264DFNB40Deafness 40
612433DFNB45Deafness 45
609647DFNB46Deafness 46
609946DFNB47Deafness, neurosensory 47
600792DFNB5Deafness 5
609941DFNB51Deafness 51
609952DFNB55Deafness 55
610143DFNB62Deafness 62
610248DFNB65Deafness 65
612789DFNB71Deafness 71
613685DFNB83Deafness 83
613392DFNB85Deafness 85
614414DFNB96Deafness 96
300030DFNX3Deafness, X-linked 3, X-linked
400043DFNY1Deafness, Y-linked 1, Y-linked
604900DGAT1Diarrhea 7, protein-losing enteropathy type
601440DGKEHemolytic uremic syndrome, atypical, susceptibility to, 7; Nephrotic syndrome, type 7
601362DGS2DiGeorge syndrome/velocardiofacial syndrome complex-2
601465DGUOKPortal hypertension, noncirrhotic, 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions 4; Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
606418DHCR24Desmosterolosis
602858DHCR7Smith-Lemli-Opitz syndrome
608172DHDDSDevelopmental delay and seizures with or without movement abnormalities; Congenital disorder of glycosylation, type 1bb; Retinitis pigmentosa 59
126060DHFRMegaloblastic anemia due to dihydrofolate reductase deficiency
605423DHH46XY gonadal dysgenesis with minifascicular neuropathy; 46XY sex reversal 7
126064DHODHMiller syndrome
600944DHPSNeurodevelopmental disorder with seizures and speech and walking impairment
614984DHTKD1Charcot-Marie-Tooth disease, axonal, type 2Q; Alpha-aminoadipic and alpha-ketoadipic aciduria
603405DHX16Neuromuscular disease and ocular or auditory anomalies with or without seizures
616423DHX30Neurodevelopmental disorder with variable motor and speech impairment
617362DHX37Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies; 46XY sex reversal 11
605584DHX38Retinitis pigmentosa 84
605219DIABLODeafness 64
602121DIAPH1Deafness 1, with or without thrombocytopenia; Seizures, cortical blindness, microcephaly syndrome
300108DIAPH2Premature ovarian failure 2A, X-linked dominant
614567DIAPH3Auditory neuropathy 1
606241DICER1Pleuropulmonary blastoma; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors; GLOW syndrome, somatic mosaic; Rhabdomyosarcoma, embryonal, 2
142340DIH1Diaphragmatic hernia 1, Multifactorial
222400DIH2Diaphragmatic hernia 2
147892DIO1Thyroid hormone metabolism, abnormal, 2
611379DIP2BIntellectual developmental disorder, FRA12A type
614184DIS3L2Perlman syndrome
605210DISC1Schizophrenia 9, susceptibility to
606271DISC2Schizophrenia
127600DKBIDyskeratosis, hereditary benign intraepithelial
300126DKC1Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1, X-linked dominant; Dyskeratosis congenita, X-linked, X-linked recessive
608770DLATPyruvate dehydrogenase E2 deficiency
604258DLC1Colorectal cancer, somatic
238331DLDDihydrolipoamide dehydrogenase deficiency
300189DLG3Intellectual developmental disorder, X-linked 90, X-linked recessive
602887DLG4Intellectual developmental disorder 62
604090DLG5Yuksel-Vogel-Bauser syndrome
606582DLL1Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
602768DLL3Spondylocostal dysostosis 1
605185DLL4Adams-Oliver syndrome 6
126063DLSTPheochromocytoma/paraganglioma syndrome 7
600525DLX3Trichodontoosseous syndrome; Amelogenesis imperfecta, type IV
601911DLX4Orofacial cleft 15
600028DLX5Split-hand/foot malformation 1; Split-hand/foot malformation 1 with sensorineural hearing loss
300377DMDBecker muscular dystrophy, X-linked recessive; Cardiomyopathy, dilated, 3B, X-linked; Duchenne muscular dystrophy, X-linked recessive
605849DMGDHDimethylglycine dehydrogenase deficiency
600980DMP1Hypophosphatemic rickets, AR
605377DMPKMyotonic dystrophy 1
612186DMXL2Developmental and epileptic encephalopathy 81; Deafness 71; Polyendocrine-polyneuropathy syndrome
601810DNA2Progressive external ophthalmoplegia with mitochondrial DNA deletions 6; Rothmund-Thomson syndrome, type 4; Seckel syndrome 8
613190DNAAF1Ciliary dyskinesia, primary, 13
614930DNAAF11Ciliary dyskinesia, primary, 19
612517DNAAF2Ciliary dyskinesia, primary, 10
614566DNAAF3Ciliary dyskinesia, primary, 2
608706DNAAF4Dyslexia, susceptibility to, 1; Ciliary dyskinesia, primary, 25
614864DNAAF5Ciliary dyskinesia, primary, 18
300933DNAAF6Ciliary dyskinesia, primary, 36, X-linked, X-linked recessive
603332DNAH1Spermatogenic failure 18; Ciliary dyskinesia, primary, 37
605884DNAH10Spermatogenic failure 56
603339DNAH11Ciliary dyskinesia, primary, 7, with or without situs inversus
610063DNAH17Spermatogenic failure 39
603333DNAH2Spermatogenic failure 45
603335DNAH5Ciliary dyskinesia, primary, 3, with or without situs inversus
610061DNAH7Ciliary dyskinesia, primary, 50
603337DNAH8Spermatogenic failure 46
603330DNAH9Ciliary dyskinesia, primary, 40
604366DNAI1Ciliary dyskinesia, primary, 1, with or without situs inversus
605483DNAI2Ciliary dyskinesia, primary, 9, with or without situs inversus
611341DNAJB11Polycystic kidney disease 6 with or without polycystic liver disease
610263DNAJB13Ciliary dyskinesia, primary, 34
604139DNAJB2Neuronopathy, distal hereditary motor 5
611327DNAJB4Congenital myopathy 21 with early respiratory failure
611332DNAJB6Muscular dystrophy, limb-girdle 1
606060DNAJC12Hyperphenylalaninemia, mild, non-BH4-deficient
608977DNAJC193-methylglutaconic aciduria, type V
617048DNAJC21Bone marrow failure syndrome 3
601184DNAJC3Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
618202DNAJC30Leber-like hereditary optic neuropathy 1
611203DNAJC5Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
608375DNAJC6Parkinson disease 19a, juvenile-onset; Parkinson disease 19b, early-onset
610062DNAL1Ciliary dyskinesia, primary, 16
610565DNAL4Mirror movements 3
602135DNALI1Spermatogenic failure 83
125505DNASE1Systemic lupus erythematosus, susceptibility to
602244DNASE1L3Systemic lupus erythematosus 16
126350DNASE2Autoinflammatory-pancytopenia syndrome
617277DNHD1Spermatogenic failure 65
602377DNM1Developmental and epileptic encephalopathy 31B; Developmental and epileptic encephalopathy 31A
603850DNM1LOptic atrophy 5; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
602378DNM2Centronuclear myopathy 1; Charcot-Marie-Tooth disease, axonal type 2M; Charcot-Marie-Tooth disease, dominant intermediate B; Lethal congenital contracture syndrome 5
611282DNMBPCataract 48
126375DNMT1Neuropathy, hereditary sensory, type IE; Cerebellar ataxia, deafness, and narcolepsy
602769DNMT3ATatton-Brown-Rahman syndrome; Acute myeloid leukemia, somatic; Heyn-Sproul-Jackson syndrome
602900DNMT3BImmunodeficiency-centromeric instability-facial anomalies syndrome 1; Facioscapulohumeral muscular dystrophy 4, digenic, Digenic dominant
300681DOCK11Autoinflammatory disease, multisystem, with immune dysregulation, X-linked, X-linked recessive
603122DOCK2Immunodeficiency 40
603123DOCK3Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
614194DOCK6Adams-Oliver syndrome 2
615730DOCK7Developmental and epileptic encephalopathy 23
611432DOCK8Hyper-IgE syndrome 2, with recurrent infections
611262DOHHNeurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
610285DOK7Fetal akinesia deformation sequence 3; Myasthenic syndrome, congenital, 10
610746DOLKCongenital disorder of glycosylation, type Im
611428DONSONMicrocephaly, short stature, and limb abnormalities; Microcephaly-micromelia syndrome
191350DPAGT1Myasthenic syndrome, congenital, 13, with tubular aggregates; Congenital disorder of glycosylation, type Ij
601671DPF2Coffin-Siris syndrome 7
603527DPH1Developmental delay with short stature, dysmorphic facial features, and sparse hair
603456DPH2Developmental delay with short stature, dysmorphic facial features, and sparse hair 2
611075DPH5Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
603503DPM1Congenital disorder of glycosylation, type Ie
603564DPM2Congenital disorder of glycosylation, type Iu
605951DPM3Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15
126141DPP6Intellectual developmental disorder 33; Ventricular fibrillation, paroxysmal familial, 2
608258DPP9Hatipoglu immunodeficiency syndrome
613893DPY19L2Spermatogenic failure 9
612779DPYDDihydropyrimidine dehydrogenase deficiency; 5-fluorouracil toxicity
613326DPYSDihydropyrimidinuria
608383DPYSL5Ritscher-Schinzel syndrome 4
613360DRAM2Cone-rod dystrophy 21
615288DRC1Spermatogenic failure 80; Ciliary dyskinesia, primary, 21
126451DRD3Essential tremor, hereditary, 1; Schizophrenia, susceptibility to
126452DRD4Attention deficit-hyperactivity disorder; Autonomic nervous system dysfunction
126453DRD5Blepharospasm, primary benign; Attention deficit-hyperactivity disorder, susceptibility to
603952DRG1Tan-Almurshedi syndrome
125645DSC2Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair; Arrhythmogenic right ventricular dysplasia 11
600271DSC3Hypotrichosis and recurrent skin vesicles
605942DSEEhlers-Danlos syndrome, musculocontractural type 2
125670DSG1Keratosis palmoplantaris striata I, AD; Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE
125671DSG2Cardiomyopathy, dilated, 1BB; Arrhythmogenic right ventricular dysplasia 10
169615DSG3Blistering, acantholytic, of oral and laryngeal mucosa
607892DSG4Hypotrichosis 6
125647DSPArrhythmogenic right ventricular dysplasia 8; Epidermolysis bullosa, lethal acantholytic; Keratosis palmoplantaris striata II; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis; Cardiomyopathy, dilated, with woolly hair and keratoderma
125485DSPPDentinogenesis imperfecta, Shields type III; Dentinogenesis imperfecta, Shields type II; Dentin dysplasia, type II; Deafness 39, with dentinogenesis
113810DSTNeuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency
612666DSTYKSpastic paraplegia 23; Congenital anomalies of kidney and urinary tract 1
601239DTNALeft ventricular noncompaction 1, with or without congenital heart defects
607145DTNBP1Hermansky-Pudlak syndrome 7
188345DTYMKNeurodegeneration, childhood-onset, with progressive microcephaly
612715DUH2Dyschromatosis universalis hereditaria 2
606759DUOX2Thyroid dyshormonogenesis 6
612772DUOXA2Thyroid dyshormonogenesis 5
126900DUPC1Dupuytren contracture 1
126800DURS1Duane retraction syndrome 1
602748DUSP6Hypogonadotropic hypogonadism 19 with or without anosmia
601266DUTBone marrow failure and diabetes mellitus syndrome
601365DVL1Robinow syndrome 2
601368DVL3Robinow syndrome 3
220200DWSDandy-Walker syndrome, Isolated cases
607461DYMSmith-McCort dysplasia; Dyggve-Melchior-Clausen disease
600112DYNC1H1Charcot-Marie-Tooth disease, axonal, type 2O; Spinal muscular atrophy, lower extremity-predominant 1, AD; Cortical dysplasia, complex, with other brain malformations 13
603331DYNC1I2Neurodevelopmental disorder with microcephaly and structural brain anomalies
603297DYNC2H1Short-rib thoracic dysplasia 3 with or without polydactyly, Digenic recessive
615462DYNC2I1Short-rib thoracic dysplasia 8 with or without polydactyly
613363DYNC2I2Short-rib thoracic dysplasia 11 with or without polydactyly
617083DYNC2LI1Short-rib thoracic dysplasia 15 with polydactyly
617353DYNLT2BShort-rib thoracic dysplasia 17 with or without polydactyly
600855DYRK1AIntellectual developmental disorder 7
604556DYRK1BAbdominal obesity-metabolic syndrome 3
603009DYSFMuscular dystrophy, limb-girdle 2; Miyoshi muscular dystrophy 1; Myopathy, distal, with anterior tibial onset
607671DYT13Dystonia 13, torsion
607488DYT15Dystonia-15, myoclonic
612406DYT17Dystonia-17, primary torsion
614588DYT21Dystonia 21
614860DYT23Dystonia 23
602124DYT7Dystonia-7, torsion
604254DYX3Dyslexia, susceptibility to, 3
606896DYX5Dyslexia, susceptibility to, 5
606616DYX6Dyslexia, susceptibility to, 6
608995DYX8Dyslexia, susceptibility to, 8, Multifactorial
300509DYX9Dyslexia, susceptibility to, 9
608671DZIP1Spermatogenic failure 47; Mitral valve prolapse 3
617570DZIP1LPolycystic kidney disease 5
606554EA3Episodic ataxia, type 3
611907EA7Episodic ataxia, type 7
616055EA8Episodic ataxia, type 8
612799EARS2Combined oxidative phosphorylation deficiency 12
607407EBF3Hypotonia, ataxia, and delayed development syndrome
300205EBPMEND syndrome, X-linked recessive; Chondrodysplasia punctata, X-linked dominant, X-linked dominant
600131ECA1Epilepsy, childhood absence, 1
600423ECE1Hypertension, essential, susceptibility to, Multifactorial; Hirschsprung disease, cardiac defects, and autonomic dysfunction
605896ECEL1Arthrogryposis, distal, type 5D
602292ECHS1Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
602201ECM1Urbach-Wiethe disease
117100ECTCentrotemporal epilepsy, Isolated cases
614927ECTD5Ectodermal dysplasia 5, hair/nail type
614928ECTD6Ectodermal dysplasia 6, hair/nail type
602401ECTD8Ectodermal dysplasia 8, hair/tooth/nail type
300451EDATooth agenesis, selective, X-linked 1, X-linked dominant; Ectodermal dysplasia 1, hypohidrotic, X-linked, X-linked recessive
604095EDARHair morphology 1, hair thickness; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type
606603EDARADDEctodermal dysplasia 11B, hypohidrotic/hair/tooth type; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type
609842EDC3Intellectual developmental disorder 50
610214EDEM3Congenital disorder of glycosylation, type IIv
131240EDN1Question mark ears, isolated; Auriculocondylar syndrome 3
131242EDN3Waardenburg syndrome, type 4B; Hirschsprung disease, susceptibility to, 4
131243EDNRAMigraine, resistance to; Mandibulofacial dysostosis with alopecia
131244EDNRBHirschsprung disease, susceptibility to, 2; ABCD syndrome; Waardenburg syndrome, type 4A
613576EDSS2Ectodermal dysplasia-syndactyly syndrome 2
129900EEC1EEC syndrome-1
605984EEDCohen-Gibson syndrome
602959EEF1A2Developmental and epileptic encephalopathy 33; Intellectual developmental disorder 38
130610EEF2Spinocerebellar ataxia 26
130180EEGV1Electroencephalographic variant pattern 1
601548EFEMP1Doyne honeycomb degeneration of retina; Cutis laxa, type ID; Glaucoma 1, open angle, H
604633EFEMP2Cutis laxa, type IB
608815EFHC1Epilepsy, juvenile absence, susceptibility to, 1; Myoclonic epilepsy, juvenile, susceptibility to, 1
617538EFL1Shwachman-Diamond syndrome 2
300035EFNB1Craniofrontonasal dysplasia, X-linked dominant
603892EFTUD2Mandibulofacial dysostosis, Guion-Almeida type
131530EGFHypomagnesemia 4, renal
131550EGFRNeonatal nephrocutaneous inflammatory syndrome; Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, Somatic mutation; Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, Somatic mutation; Nonsmall cell lung cancer, susceptibility to, Somatic mutation
600669EGIEpilepsy, idiopathic generalized, susceptibility to, 1
606425EGLN1Erythrocytosis, familial, 3; Hemoglobin, high altitude adaptation
129010EGR2Dejerine-Sottas disease; Charcot-Marie-Tooth disease, type 1D; Hypomyelinating neuropathy, congenital, 1
609922EHBP1Prostate cancer, hereditary, 12
607037EHHADHFanconi renotubular syndrome 3
607001EHMT1Kleefstra syndrome 1
613635EIF2AK1Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome
176871EIF2AK2Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome; Dystonia 33
604032EIF2AK3Wolcott-Rallison syndrome
609280EIF2AK4Pulmonary venoocclusive disease 2
606686EIF2B1Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure
606454EIF2B2Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure
606273EIF2B3Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure
606687EIF2B4Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure
603945EIF2B5Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure
300161EIF2S3MEHMO syndrome, X-linked recessive
603914EIF3FIntellectual developmental disorder 67
601102EIF4A2Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
608546EIF4A3Robin sequence with cleft mandible and limb anomalies
133440EIF4EAutism, susceptibility to, 19
600495EIF4G1Parkinson disease 18
600187EIF5AFaundes-Banka syndrome
606972EIG2Epilepsy, idiopathic generalized, susceptibility to, 2
608762EIG3Epilepsy, idiopathic generalized, susceptibility to, 3
609750EIG4Epilepsy, idiopathic generalized, susceptibility to 4
611934EIG5Epilepsy, idiopathic generalized, susceptibility to, 5
604827EJM2Epilepsy, idiopathic generalized, susceptibility to, 7, Isolated cases; Epilepsy, juvenile myoclonic, Isolated cases
608816EJM3Epilepsy, juvenile myoclonic 3
611364EJM4Myoclonic epilepsy, juvenile, 4
614280EJM9Epilepsy, juvenile myoclonic, susceptibility to, 9
611031EKD2Episodic kinesigenic dyskinesia 2
605367ELAC2Prostate cancer, hereditary, 2, susceptibility to; Combined oxidative phosphorylation deficiency 17
130130ELANENeutropenia, cyclic; Neutropenia, severe congenital 1
300775ELF4Autoinflammatory syndrome, familial, X-linked, Behcet-like 2, X-linked recessive
606421ELMO2Vascular malformation, primary intraosseous
615427ELMOD3Deafness 88; Deafness 81
130160ELNCutis laxa; Supravalvar aortic stenosis
611813ELOVL1Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies
605512ELOVL4Spinocerebellar ataxia 34; Stargardt disease 3; Ichthyosis, spastic quadriplegia, and impaired intellectual development
611805ELOVL5Spinocerebellar ataxia 38
603722ELP1Medulloblastoma, Somatic mutation; Dysautonomia, familial
616054ELP2Intellectual developmental disorder 58
606985ELP4Aniridia 2
616846EMC1Cerebellar atrophy, visual impairment, and psychomotor retardation
614545EMC10Neurodevelopmental disorder with dysmorphic facies and variable seizures
300384EMDEmery-Dreifuss muscular dystrophy 1, X-linked, X-linked recessive
611531EMG1Bowen-Conradi syndrome
130660EMILIN1Neuronopathy, distal hereditary motor 10; Arterial tortuosity-bone fragility syndrome
602033EML1Band heterotopia
602334EMP2Nephrotic syndrome, type 10
300211EMWXEpisodic muscle weakness, X-linked
600035EMX2Schizencephaly
131290EN1ENDOVE syndrome, limb-brain type
606585ENAMAmelogenesis imperfecta, type IC; Amelogenesis imperfecta, type IB
131200ENDO1Endometriosis, susceptibility to, 1, Multifactorial
603204ENFL2Epilepsy, nocturnal frontal lobe, type 2
131195ENGTelangiectasia, hereditary hemorrhagic, type 1
131370ENO3Glycogen storage disease XIII
173335ENPP1Obesity, susceptibility to, Multifactorial; Hypophosphatemic rickets, 2; Diabetes mellitus, non-insulin-dependent, susceptibility to; Arterial calcification, generalized, of infancy, 1; Cole disease
601752ENTPD1Spastic paraplegia 64
600631ENUR1Enuresis, nocturnal, 1
600808ENUR2Enuresis, nocturnal, 2
610247EOE1Esophagitis, eosinophilic, 1, Multifactorial
613412EOE2Esophagitis, eosinophilic, 2, Multifactorial
614789EOGTAdams-Oliver syndrome 4
131400EOSEosinophilia, familial
602700EP300Menke-Hennekam syndrome 2; Colorectal cancer, somatic; Rubinstein-Taybi syndrome 2
603349EPAS1Erythrocytosis, familial, 4
130500EPB41Elliptocytosis-1
602879EPB41L1Intellectual developmental disorder 11
177070EPB42Spherocytosis, type 5
185535EPCAMDiarrhea 5, with tufting enteropathy, congenital; Lynch syndrome 8
615068EPG5Vici syndrome
611123EPHA10Deafness 88
176946EPHA2Cataract 6, multiple types
600997EPHB2Bleeding disorder, platelet-type, 22; Prostate cancer/brain cancer susceptibility, somatic
600011EPHB4Capillary malformation-arteriovenous malformation 2; Lymphatic malformation 7
132811EPHX2Hypercholesterolemia, familial, due to LDLR defect, modifier of
607566EPM2AMyoclonic epilepsy of Lafora 1
133170EPOMicrovascular complications of diabetes 2; Erythrocytosis, familial, 5; Diamond-Blackfan anemia-like
133171EPORErythrocytosis, familial, 1
607221EPPSEpilepsy, partial, with pericentral spikes
138295EPRS1Leukodystrophy, hypomyelinating, 15
600206EPS8Deafness 102
614988EPS8L2Deafness autosomal recessive 106
614989EPS8L3Hypotrichosis 5
131399EPXEosinophil peroxidase deficiency
607435ERAL1Perrault syndrome 6
164870ERBB2Gastric cancer, somatic; Adenocarcinoma of lung, somatic; Ovarian cancer, somatic; Visceral neuropathy, familial, 2; Glioblastoma, somatic
190151ERBB3Lethal congenital contractural syndrome 2; Erythroleukemia, familial, susceptibility to; Visceral neuropathy, familial, 1
600543ERBB4Amyotrophic lateral sclerosis 19
126380ERCC1Cerebrooculofacioskeletal syndrome 4
126340ERCC2Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive; Cerebrooculofacioskeletal syndrome 2
133510ERCC3Trichothiodystrophy 2, photosensitive; Xeroderma pigmentosum, group B
133520ERCC4Xeroderma pigmentosum, type F/Cockayne syndrome; XFE progeroid syndrome; Xeroderma pigmentosum, group F; Fanconi anemia, complementation group Q
133530ERCC5Xeroderma pigmentosum, group G; Cerebrooculofacioskeletal syndrome 3; Xeroderma pigmentosum, group G/Cockayne syndrome
609413ERCC6UV-sensitive syndrome 1; Cerebrooculofacioskeletal syndrome 1; De Sanctis-Cacchione syndrome; Cockayne syndrome, type B; Macular degeneration, age-related, susceptibility to, 5; Premature ovarian failure 11; Lung cancer, susceptibility to, Somatic mutation
615667ERCC6L2Bone marrow failure syndrome 2
609412ERCC8UV-sensitive syndrome 2; Cockayne syndrome, type A
611888ERFCraniosynostosis 4; Chitayat syndrome
165080ERGLymphatic malformation 14
617946ERGIC1Arthrogryposis multiplex congenita 2, neurogenic type
608739ERI1Hoxha-Aliu syndrome; Spondyloepimetaphyseal dysplasia, Guo-Campeau type
611604ERLIN1Spastic paraplegia 62
611605ERLIN2Spastic paraplegia 18A; Spastic paraplegia 18B
609017ERMAPBlood group, Scianna system; Blood group, Radin
615532ERMARDPeriventricular nodular heterotopia 6
614281ESAMNeurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
609353ESCO2Juberg-Hayward syndrome; Roberts-SC phocomelia syndrome
606351ESPNDeafness, neurosensory, without vestibular involvement; Deafness 36; Usher syndrome, type 1M
133430ESR1Breast cancer, somatic; Migraine, susceptibility to; Estrogen resistance; Myocardial infarction, susceptibility to
601663ESR2Ovarian dysgenesis 8
612959ESRP1Deafness 109
602167ESRRBDeafness 35
608053ETFAGlutaric acidemia IIA
130410ETFBGlutaric acidemia IIB
231675ETFDHGlutaric acidemia IIC
608451ETHE1Ethylmalonic encephalopathy
608096ETL2Epilepsy, familial temporal lobe, 2
611631ETL4Epilepsy, familial temporal lobe, 4
615697ETL6Epilepsy, familial temporal lobe, 6
602134ETM2Essential tremor, hereditary, 2
611456ETM3Essential tremor, hereditary, 3
600618ETV6Thrombocytopenia 5; Leukemia, acute myeloid, somatic
604831EVCEllis-van Creveld syndrome; Weyers acrofacial dysostosis
607261EVC2Ellis-van Creveld syndrome; Weyers acrofacial dysostosis
605750EVR3Exudative vitreoretinopathy 3
133450EWSR1Neuroepithelioma; Ewing sarcoma
615329EXOC2Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
616927EXOC3L2Brain malformation renal syndrome
607880EXOC6BSpondyloepimetaphyseal dysplasia with joint laxity, type 3
608163EXOC7Neurodevelopmental disorder with seizures and brain atrophy
615283EXOC8Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy
606493EXOSC1Pontocerebellar hypoplasia, type 1F
602238EXOSC2Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
606489EXOSC3Pontocerebellar hypoplasia, type 1B
606492EXOSC5Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
606019EXOSC8Pontocerebellar hypoplasia, type 1C
606180EXOSC9Pontocerebellar hypoplasia, type 1D
612878EXPH5Epidermolysis bullosa simplex 4, localized or generalized intermediate
608177EXT1Exostoses, multiple, type 1; Chondrosarcoma, Somatic mutation
608210EXT2Seizures, scoliosis, and macrocephaly syndrome; Exostoses, multiple, type 2
600209EXT3Exostoses, multiple, type 3
605744EXTL3Immunoskeletal dysplasia with neurodevelopmental abnormalities
601653EYA1Branchiootic syndrome 1; Branchiootorenal syndrome 1, with or without cataracts; Anterior segment anomalies with or without cataract; Otofaciocervical syndrome
603550EYA4Cardiomyopathy, dilated, 1J; Deafness 10
612424EYSRetinitis pigmentosa 25
601573EZH2Weaver syndrome
613872F10Factor X deficiency
264900F11Factor XI deficiency; Factor XI deficiency
610619F12Angioedema, hereditary, 3; Factor XII deficiency
134570F13A1Factor XIIIA deficiency; Myocardial infarction, protection against; Venous thrombosis, protection against
134580F13BFactor XIIIB deficiency
176930F2Hypoprothrombinemia; Pregnancy loss, recurrent, susceptibility to, 2; Dysprothrombinemia; Thrombophilia 1 due to thrombin defect; Stroke, ischemic, susceptibility to, Multifactorial
612309F5Thrombophilia 2 due to activated protein C resistance; Pregnancy loss, recurrent, susceptibility to, 1; Thrombophilia, susceptibility to, due to factor V Leiden; Budd-Chiari syndrome; Stroke, ischemic, susceptibility to, Multifactorial; Factor V deficiency
613878F7Myocardial infarction, decreased susceptibility to; Factor VII deficiency
300841F8Thrombophilia 13, X-linked, due to factor VIII defect; Hemophilia A, X-linked recessive
300746F9Deep venous thrombosis, protection against, X-linked recessive; Hemophilia B, X-linked recessive; Thrombophilia 8, X-linked, due to factor IX defect, X-linked recessive; Warfarin sensitivity, X-linked
611026FA2HSpastic paraplegia 35
602935FAAHDrug addiction, susceptibility to
602457FADDImmunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction
613871FAHTyrosinemia, type I
615292FAM111AKenny-Caffey syndrome, type 2; Gracile bone dysplasia
615584FAM111BPoikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis
618413FAM149B1Joubert syndrome 36
613596FAM161ARetinitis pigmentosa 28
611062FAM20AAmelogenesis imperfecta, type IG (enamel-renal syndrome)
611061FAM20CRaine syndrome
300453FAM50AIntellectual developmental disorder, X-linked syndromic, Armfield type, X-linked recessive
611927FAM83HAmelogenesis imperfecta, type IIIA
613534FAN1Interstitial nephritis, karyomegalic
607139FANCAFanconi anemia, complementation group A
300515FANCBFanconi anemia, complementation group B, X-linked recessive
613899FANCCFanconi anemia, complementation group C
613984FANCD2Fanconi anemia, complementation group D2
613976FANCEFanconi anemia, complementation group E
613897FANCFFanconi anemia, complementation group F
602956FANCGFanconi anemia, complementation group G
611360FANCIFanconi anemia, complementation group I
608111FANCLFanconi anemia, complementation group L
609644FANCMPremature ovarian failure 15; Spermatogenic failure 28
616107FAR1Peroxisomal fatty acyl-CoA reductase 1 disorder; Cataracts, spastic paraparesis, and speech delay
611592FARS2Combined oxidative phosphorylation deficiency 14; Spastic paraplegia 77
602918FARSARajab interstitial lung disease with brain calcifications 2
609690FARSBRajab interstitial lung disease with brain calcifications 1
134637FASSquamous cell carcinoma, burn scar-related, somatic; Autoimmune lymphoproliferative syndrome, type IA; Autoimmune lymphoproliferative syndrome
134638FASLGAutoimmune lymphoproliferative syndrome, type IB; Lung cancer, susceptibility to, Somatic mutation
612322FASTKD2Combined oxidative phosphorylation deficiency 44
604269FAT2Spinocerebellar ataxia 45
612411FAT4Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2
135820FBLN1Synpolydactyly, 3/3’4, associated with metacarpal and metatarsal synostoses
604580FBLN5Cutis laxa, type IA; Charcot-Marie-Tooth disease, demyelinating, type 1H; Macular degeneration, age-related, 3; Cutis laxa 2
134797FBN1Geleophysic dysplasia 2; Weill-Marchesani syndrome 2, dominant; Ectopia lentis, familial; MASS syndrome; Marfan lipodystrophy syndrome; Acromicric dysplasia; Marfan syndrome; Stiff skin syndrome
612570FBN2Macular degeneration, early-onset; Contractural arachnodactyly, congenital
611570FBP1Fructose-1,6-bisphosphatase deficiency
603027FBP2Leukodystrophy, childhood-onset, remitting
605653FBXL3Intellectual developmental disorder with short stature, facial anomalies, and speech defects
605654FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
607871FBXO11Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
609100FBXO28Developmental and epileptic encephalopathy 100
609102FBXO31Intellectual developmental disorder 45
608533FBXO38Neuronopathy, distal hereditary motor 6
609110FBXO43Spermatogenic failure 64; Oocyte/zygote/embryo maturation arrest 12
605648FBXO7Parkinson disease 15
605651FBXW11Neurodevelopmental, jaw, eye, and digital syndrome
606278FBXW7Developmental delay, hypotonia, and impaired language
146760FCGR1AIgG receptor I, phagocytic, familial deficiency of
146790FCGR2AMalaria, severe, susceptibility to; Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis; Lupus nephritis, susceptibility to
604590FCGR2BSystemic lupus erythematosus, susceptibility to; Malaria, resistance to
146740FCGR3AImmunodeficiency 20
613437FCHO1Immunodeficiency 76
604973FCN3Immunodeficiency due to ficolin 3 deficiency
305435FCP1Fetal hemoglobin quantitative trait locus 3, X-linked
608675FCSKCongenital disorder of glycosylation with defective fucosylation 2
184420FDFT1Squalene synthase deficiency
134629FDPSPorokeratosis 9, multiple types
614585FDX2Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
103270FDXRMultiple mitochondrial dysfunctions syndrome 9B; Auditory neuropathy and optic atrophy
121210Feb-01Febrile seizures, familial, 1
612637Feb-10Febrile seizures, familial, 10
609255Feb-05Febrile seizures, familial, 5
609253Feb-06Febrile seizures, familial, 6
611515Feb-07Febrile seizures, familial, 7
611634Feb-09Febrile seizures, familial, 9
610158FECD2Corneal dystrophy, Fuchs endothelial, 2
613269FECD5Corneal dystrophy, Fuchs endothelial, 5
613271FECD7Corneal dystrophy, Fuchs endothelial, 7
612386FECHProtoporphyria, erythropoietic, 1
607900FERMT1Kindler syndrome
607901FERMT3Leukocyte adhesion deficiency, type III
616082FERRY3Intellectual developmental disorder 66
613301FEZF1Hypogonadotropic hypogonadism 22, with or without anosmia
609044FFAR4Obesity, susceptibility to
134820FGAAmyloidosis, hereditary systemic 2; Hypodysfibrinogenemia, congenital; Dysfibrinogenemia, congenital; Afibrinogenemia, congenital
134830FGBHypofibrinogenemia, congenital; Dysfibrinogenemia, congenital; Afibrinogenemia, congenital
300546FGD1Intellectual developmental disorder, X-linked syndromic 16, X-linked recessive; Aarskog-Scott syndrome, X-linked recessive
611104FGD4Charcot-Marie-Tooth disease, type 4H
602115FGF10LADD syndrome 3; Aplasia of lacrimal and salivary glands
601513FGF12Developmental and epileptic encephalopathy 47
300070FGF13Developmental and epileptic encephalopathy 90, X-linked dominant, X-linked recessive; Intellectual developmental disorder, X-linked 110, X-linked recessive
601515FGF14Spinocerebellar ataxia 27A; Spinocerebellar ataxia 27B, late-onset
300827FGF16Metacarpal 4-5 fusion, X-linked recessive
603725FGF17Hypogonadotropic hypogonadism 20 with or without anosmia
605558FGF20Renal hypodysplasia/aplasia 2
605380FGF23Tumoral calcinosis, hyperphosphatemic, familial, 2; Hypophosphatemic rickets
164950FGF3Deafness, congenital with inner ear agenesis, microtia, and microdontia
165190FGF5Trichomegaly
600483FGF8Hypogonadotropic hypogonadism 6 with or without anosmia
600921FGF9Multiple synostoses syndrome 3
136350FGFR1Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Hartsfield syndrome; Trigonocephaly 1; Osteoglophonic dysplasia; Encephalocraniocutaneous lipomatosis, somatic mosaic
176943FGFR2Bent bone dysplasia syndrome; LADD syndrome 1; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Scaphocephaly and Axenfeld-Rieger anomaly; Jackson-Weiss syndrome; Gastric cancer, somatic; Craniofacial-skeletal-dermatologic dysplasia; Apert syndrome; Pfeiffer syndrome; Craniosynostosis, nonspecific; Scaphocephaly, maxillary retrusion, and impaired intellectual development; Beare-Stevenson cutis gyrata syndrome; Crouzon syndrome; Saethre-Chotzen syndrome
134934FGFR3Muenke syndrome; SADDAN; Hypochondroplasia; Thanatophoric dysplasia, type II; Nevus, epidermal, somatic; CATSHL syndrome; Thanatophoric dysplasia, type I; Spermatocytic seminoma, somatic; Bladder cancer, somatic; LADD syndrome 2; Achondroplasia; Cervical cancer, somatic; Colorectal cancer, somatic; Crouzon syndrome with acanthosis nigricans
134935FGFR4Cancer progression/metastasis
134850FGGDysfibrinogenemia, congenital; Hypodysfibrinogenemia; Hypofibrinogenemia, congenital; Afibrinogenemia, congenital
612108FGQTL1Fasting plasma glucose level QTL 1
613219FGQTL2Fasting plasma glucose level QTL 2; Birth weight QTL 1
613233FGQTL3Fasting plasma glucose level QTL 3
613462FGQTL4Fasting plasma glucose level QTL 4
613460FGQTL6Birth weight QTL 3; Fasting plasma glucose level QTL 6
300406FGS3FG syndrome 3, X-linked
300581FGS5FG syndrome 5, X-linked
136850FHLeiomyomatosis and renal cell cancer; Fumarase deficiency
300163FHL1Myopathy, X-linked, with postural muscle atrophy, X-linked recessive; Emery-Dreifuss muscular dystrophy 6, X-linked, X-linked recessive; Uruguay faciocardiomusculoskeletal syndrome, X-linked recessive; Scapuloperoneal myopathy, X-linked dominant, X-linked dominant; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, X-linked; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, X-linked dominant
609691FHOD3Cardiomyopathy, familial hypertrophic, 28
608296FIBPThauvin-Robinet-Faivre syndrome
620875FICDSpastic paraplegia 92
609390FIG4Yunis-Varon syndrome; Polymicrogyria, bilateral temporooccipital; Amyotrophic lateral sclerosis 11; Charcot-Marie-Tooth disease, type 4J
608697FIGLAPremature ovarian failure 6
607307FILIP1Neuromuscular disorder, congenital, with dysmorphic facies
606035FIQTL1Fasting insulin level quantitative trait locus 1
612029FITM2Siddiqi syndrome
607063FKBP10Osteogenesis imperfecta, type XI; Bruck syndrome 1
614505FKBP14Ehlers-Danlos syndrome, kyphoscoliotic type, 2
602623FKBP5Major depressive disorder and accelerated response to antidepressant drug treatment
604839FKBP6Spermatogenic failure 77
606596FKRPMuscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
607440FKTNMuscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Cardiomyopathy, dilated, 1X; Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4
613024FL1Follicular lymphoma, susceptibility to, 1
610595FLAD1Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency
607273FLCNBirt-Hogg-Dube syndrome; Colorectal cancer, somatic; Pneumothorax, primary spontaneous; Renal carcinoma, chromophobe, somatic
135940FLGIchthyosis vulgaris; Dermatitis, atopic, susceptibility to, 2
616284FLG2Peeling skin syndrome 6
193067FLI1Bleeding disorder, platelet-type, 21
600362FLIICardiomyopathy, dilated, 2J
300017FLNAOtopalatodigital syndrome, type II, X-linked dominant; Intestinal pseudoobstruction, neuronal, X-linked recessive; Cardiac valvular dysplasia, X-linked, X-linked; FG syndrome 2, X-linked; Melnick-Needles syndrome, X-linked dominant; Terminal osseous dysplasia, X-linked dominant; Congenital short bowel syndrome, X-linked recessive; Otopalatodigital syndrome, type I, X-linked dominant; Heterotopia, periventricular, 1, X-linked dominant; Frontometaphyseal dysplasia 1, X-linked recessive
603381FLNBLarsen syndrome; Atelosteogenesis, type I; Atelosteogenesis, type III; Spondylocarpotarsal synostosis syndrome; Boomerang dysplasia
102565FLNCCardiomyopathy, familial hypertrophic, 26; Arrhythmogenic right ventricular dysplasia, familial; Cardiomyopathy, familial restrictive 5; Myopathy, distal, 4; Myopathy, myofibrillar, 5
604808FLRT3Hypogonadotropic hypogonadism 21 with anosmia
136351FLT3Leukemia, acute lymphoblastic, somatic; Leukemia, acute myeloid, reduced survival in, somatic; Leukemia, acute myeloid, somatic
600007FLT3LGImmunodeficiency 125
136352FLT4Hemangioma, capillary infantile, somatic; Lymphatic malformation 1; Congenital heart defects, multiple types, 7
609144FLVCR1Ataxia, posterior column, with retinitis pigmentosa
610865FLVCR2Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
606373FMN2Intellectual developmental disorder 47
136132FMO3Trimethylaminuria
309550FMR1Fragile X tremor/ataxia syndrome, X-linked dominant; Fragile X syndrome, X-linked dominant; Premature ovarian failure 1, X-linked
611630FMTLEEpilepsy, familial temporal lobe, 3
135600FN1Spondylometaphyseal dysplasia, corner fracture type; Glomerulopathy with fibronectin deposits 2
610594FNIP1Immunodeficiency 93 and hypertrophic cardiomyopathy
614606FOCADLiver disease, severe congenital
136430FOLR1Neurodegeneration due to cerebral folate transport deficiency
601575FOSL2Aplasia cutis-enamel dysplasia syndrome
601090FOXC1Axenfeld-Rieger syndrome, type 3; Anterior segment dysgenesis 3, multiple subtypes
602402FOXC2Lymphedema-distichiasis syndrome; Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus
611539FOXD3Autoimmune disease, susceptibility to, 1
602617FOXE1Bamforth-Lazarus syndrome; Thyroid cancer, nonmedullary, 4
601094FOXE3Anterior segment dysgenesis 2, multiple subtypes; Aortic aneurysm, familial thoracic 11, susceptibility to; Cataract 34, multiple types
601089FOXF1Alveolar capillary dysplasia with misalignment of pulmonary veins
164874FOXG1Rett syndrome, congenital variant
601093FOXI1Enlarged vestibular aqueduct
612351FOXI3Craniofacial microsomia 2
602291FOXJ1Ciliary dyskinesia, primary, 43
603252FOXL1Otosclerosis 11
605597FOXL2Blepharophimosis, epicanthus inversus, and ptosis, type 2; Blepharophimosis, epicanthus inversus, and ptosis, type 1; Premature ovarian failure 3
600838FOXN1T-cell lymphopenia, infantile, with or without nail dystrophy; T-cell immunodeficiency, congenital alopecia, and nail dystrophy
136533FOXO1Rhabdomyosarcoma, alveolar, Somatic mutation
605515FOXP1Intellectual developmental disorder with language impairment with or without autistic features
605317FOXP2Speech-language disorder-1
300292FOXP3Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, X-linked recessive
613622FOXRED1Mitochondrial complex I deficiency, nuclear type 19
608866FRA10AC1Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities
607830FRAS1Fraser syndrome 1
601992FRDA2Friedreich ataxia 2
608944FREM1Manitoba oculotrichoanal syndrome; Bifid nose with or without anorectal and renal anomalies; Trigonocephaly 2
608945FREM2Fraser syndrome 2; Cryptophthalmos, unilateral or bilateral, isolated
616305FRMD4ACorpus callosum, agenesis of, with facial anomalies and cerebellar ataxia
616309FRMD5Neurodevelopmental disorder with eye movement abnormalities and ataxia
300628FRMD7Nystagmus, infantile periodic alternating, X-linked, X-linked; Nystagmus 1, congenital, X-linked, X-linked
300838FRMPD4Intellectual developmental disorder, X-linked 104, X-linked
604574FRRS1LDevelopmental and epileptic encephalopathy 37
605083FRZBOsteoarthritis susceptibility 1, Multifactorial
607643FSCN2Retinitis pigmentosa 30
136530FSHBHypogonadotropic hypogonadism 24 without anosmia
136435FSHROvarian hyperstimulation syndrome; Ovarian dysgenesis 1
615796FSIP2Spermatogenic failure 34
606806FTCDGlutamate formiminotransferase deficiency
134770FTH1Neurodegeneration with brain iron accumulation 9; Hemochromatosis, type 5
134790FTLHyperferritinemia-cataract syndrome; L-ferritin deficiency, dominant and recessive; Neurodegeneration with brain iron accumulation 3
610966FTOGrowth retardation, developmental delay, facial dysmorphism; Obesity, susceptibility to, BMIQ14
300499FTSJ1Intellectual developmental disorder, X-linked 9, X-linked recessive
612280FUCA1Fucosidosis
137070FUSAmyotrophic lateral sclerosis 6, with or without frontotemporal dementia; Essential tremor, hereditary, 4
211100FUT1Bombay phenotype
182100FUT2Norwalk virus infection, resistance to; Vitamin B12 plasma level QTL1; Bombay phenotype, digenic
111100FUT3Blood group, Lewis
136836FUT6Fucosyltransferase 6 deficiency
602589FUT8Congenital disorder of glycosylation with defective fucosylation 1
610622FUZNeural tube defects, susceptibility to
613606FWSForsythe-Wakeling syndrome
606829FXNFriedreich ataxia with retained reflexes; Friedreich ataxia
600819FXR1Congenital myopathy 9B, proximal, with minicore lesions; Congenital myopathy 9A with respiratory insufficiency and bone fractures
601814FXYD2Hypomagnesemia 2, renal
602731FYB1Thrombocytopenia 3
607182FYCO1Cataract 18
600667FZD2Omodysplasia 2
604579FZD4Retinopathy of prematurity; Exudative vitreoretinopathy 1
601723FZD5Microphthalmia/coloboma 11
603409FZD6Nail disorder, nonsyndromic congenital, 1
603619FZR1Developmental and epileptic encephalopathy 109
613742G6PC1Glycogen storage disease Ia
611045G6PC3Dursun syndrome; Neutropenia, severe congenital 4
305900G6PDAnemia, congenital, nonspherocytic hemolytic, 1, G6PD deficient, X-linked; Resistance to malaria due to G6PD deficiency
606800GAAGlycogen storage disease II
604439GAB1Deafness 26
603540GABBR1Neurodevelopmental disorder with language delay and variable cognitive abnormalities
607340GABBR2Nicotine dependence, protection against; Nicotine dependence, susceptibility to; Developmental and epileptic encephalopathy 59; Neurodevelopmental disorder with poor language and loss of hand skills
137160GABRA1Epilepsy, juvenile myoclonic, susceptibility to, 5; Developmental and epileptic encephalopathy 19; Epilepsy, childhood absence, susceptibility to, 4
137140GABRA2Developmental and epileptic encephalopathy 78; Alcohol dependence, susceptibility to, Multifactorial
305660GABRA3Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, X-linked
137142GABRA5Developmental and epileptic encephalopathy 79
137190GABRB1Developmental and epileptic encephalopathy 45
600232GABRB2Developmental and epileptic encephalopathy 92
137192GABRB3Epilepsy, childhood absence, susceptibility to, 5; Developmental and epileptic encephalopathy 43
137163GABRDGeneralized epilepsy with febrile seizures plus, type 5, susceptibility to
137164GABRG2Developmental and epileptic encephalopathy 74; Febrile seizures, familial, 8; Generalized epilepsy with febrile seizures plus, type 3
605363GAD1Developmental and epileptic encephalopathy 89
137035GALEpilepsy, familial temporal lobe, 8
606890GALCKrabbe disease
606953GALEThrombocytopenia 13, syndromic; Galactose epimerase deficiency
604313GALK1Galactokinase deficiency with cataracts
137030GALMGalactosemia IV
612222GALNSMucopolysaccharidosis IVA
610290GALNT12Colorectal cancer, susceptibility to, 1
602274GALNT2Congenital disorder of glycosylation, type IIt
601756GALNT3Tumoral calcinosis, hyperphosphatemic, familial, 1
606999GALTGalactosemia
601240GAMTCerebral creatine deficiency syndrome 2
605379GANGiant axonal neuropathy-1
104160GANABPolycystic kidney disease 3
600287GARS1Spinal muscular atrophy, infantile, James type; Neuronopathy, distal hereditary motor 5; Charcot-Marie-Tooth disease, type 2D
602835GAS2Deafness 125
611398GAS2L2Ciliary dyskinesia, primary, 41
605178GAS8Ciliary dyskinesia, primary, 33
305371GATA1Anemia, congenital, nonspherocytic hemolytic, 9, X-linked recessive; Leukemia, megakaryoblastic, with or without Down syndrome, somatic; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, X-linked recessive; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, X-linked recessive; Thrombocytopenia with beta-thalassemia, X-linked, X-linked recessive
137295GATA2Leukemia, acute myeloid, susceptibility to, Somatic mutation; Emberger syndrome; Immunodeficiency 21; Myelodysplastic syndrome, susceptibility to
131320GATA3Hypoparathyroidism, sensorineural deafness, and renal dysplasia
600576GATA4Tetralogy of Fallot; Atrial septal defect 2; Ventricular septal defect 1; Atrioventricular septal defect 4; Testicular anomalies with or without congenital heart disease
611496GATA5Congenital heart defects, multiple types, 5
601656GATA6Atrial septal defect 9; Persistent truncus arteriosus; Pancreatic agenesis and congenital heart defects; Atrioventricular septal defect 5; Tetralogy of Fallot
614518GATAD1Cardiomyopathy, dilated, 2B
614998GATAD2BGAND syndrome
603645GATBCombined oxidative phosphorylation deficiency 41
617210GATCCombined oxidative phosphorylation deficiency 42
602360GATMCerebral creatine deficiency syndrome 3; Fanconi renotubular syndrome 1
606463GBA1Lewy body dementia, susceptibility to; Gaucher disease, type II; Gaucher disease, type IIIC; Gaucher disease, type III; Gaucher disease, type I; Gaucher disease, perinatal lethal; Parkinson disease, late-onset, susceptibility to, Multifactorial
609471GBA2Spastic paraplegia 46
609918GBD2Gallbladder disease 2
609919GBD3Gallbladder disease 3
607839GBE1Glycogen storage disease IV; Polyglucosan body disease, adult form
603698GBF1Charcot-Marie-Tooth disease, axonal, type 2GG
609197GCCD3Glucocorticoid deficiency 3
608801GCDHGlutaricaciduria, type I
138033GCGRMahvash disease
600225GCH1Dystonia, DOPA-responsive; Hyperphenylalaninemia, BH4-deficient, B
138079GCKMODY, type II; Diabetes mellitus, permanent neonatal 1; Hyperinsulinemic hypoglycemia, familial, 3; Diabetes mellitus, noninsulin-dependent, late onset
600842GCKRFasting plasma glucose level QTL 5
606857GCLCMyocardial infarction, susceptibility to; Anemia, congenital, nonspherocytic hemolytic, 7
601176GCLMMyocardial infarction, susceptibility to
603716GCM2Hypoparathyroidism, familial isolated 2; Hyperparathyroidism 4
300369GCNASpermatogenic failure, X-linked, 4, X-linked
600429GCNT2Blood group, Ii; Adult i phenotype without cataract; Cataract 13 with adult i phenotype
238330GCSHMultiple mitochondrial dysfunctions syndrome 7
606598GDAP1Charcot-Marie-Tooth disease, axonal, with vocal cord paresis; Charcot-Marie-Tooth disease, recessive intermediate, A; Charcot-Marie-Tooth disease, axonal, type 2K; Charcot-Marie-Tooth disease, type 4A
618128GDAP2Spinocerebellar ataxia 27
602880GDF1Congenital heart defects, multiple types, 6; Right atrial isomerism (Ivemark)
603936GDF11Vertebral hypersegmentation and orofacial anomalies
605312GDF15Hyperemesis gravidarum, susceptibility to
605120GDF2Telangiectasia, hereditary hemorrhagic, type 5
606522GDF3Klippel-Feil syndrome 3; Microphthalmia, isolated, with coloboma 6; Microphthalmia, isolated 7
601146GDF5Acromesomelic dysplasia 2A; Acromesomelic dysplasia 2B; Multiple synostoses syndrome 2; Symphalangism, proximal, 1B; Brachydactyly, type A2; Acromesomelic dysplasia 2C, Hunter-Thompson type; Brachydactyly, type C; Osteoarthritis-5; Brachydactyly, type A1, C
601147GDF6Microphthalmia with coloboma 6, digenic; Microphthalmia, isolated 4; Leber congenital amaurosis 17; Multiple synostoses syndrome 4; Klippel-Feil syndrome 1
601918GDF9Premature ovarian failure 14
300104GDI1Intellectual developmental disorder, X-linked 41, X-linked dominant
600837GDNFHirschsprung disease, susceptibility to, 3
609800GEFSP4Generalized epilepsy with febrile seizures plus, type 4
612279GEFSP6Generalized epilepsy with febrile seizures plus, type 6
613863GEFSP7Generalized epilepsy with febrile seizures plus, type 7
613828GEFSP8Generalized epilepsy with febrile seizures plus, type 8
606969GEMIN4Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
607005GEMIN5Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
109350GERGastroesophageal reflux
601913GET3Cardiomyopathy, dilated, 2H
612056GET4Congenital disorder of glycosylation, type IIy
608875GEVQ1Gene expression, variation in, QTL
608878GEVQ2Gene expression, variation in, QTL
137780GFAPAlexander disease
600924GFERMyopathy, mitochondrial progressive, with congenital cataract and developmental delay
600871GFI1Neutropenia, nonimmune chronic idiopathic, of adults; Neutropenia, severe congenital 2
604383GFI1BBleeding disorder, platelet-type, 17
606639GFM1Combined oxidative phosphorylation deficiency 1
606544GFM2Combined oxidative phosphorylation deficiency 39
137950GFND1Glomerulopathy with fibronectin deposits 1
138292GFPT1Myasthenia, congenital, 12, with tubular aggregates
601496GFRA1Renal hypodysplasia/aplasia 4
137167GGCXVitamin K-dependent clotting factors, combined deficiency of, 1; Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
609966GGNSpermatogenic failure 69
606982GGPS1Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
612346GGT1Glutathioninuria
137181GGT2PGamma-glutamyltransferase, familial high serum
139250GH1Kowarski syndrome; Growth hormone deficiency, isolated, type II; Growth hormone deficiency, isolated, type IB; Growth hormone deficiency, isolated, type IA
600946GHRLaron dwarfism; Increased responsiveness to growth hormone; Growth hormone insensitivity, partial; Hypercholesterolemia, familial, modifier of
139190GHRHGigantism due to GHRF hypersecretion; Isolated growth hormone deficiency due to defect in GHRF
139191GHRHRGrowth hormone deficiency, isolated, type IV
605353GHRLObesity, susceptibility to, Multifactorial
601898GHSRGrowth hormone deficiency, isolated partial
612003GIGYF2Parkinson disease 11
608086GIMAP5Portal hypertension, noncirrhotic, 2
605544GINGF2Fibromatosis, gingival, 2
609955GINGF3Fibromatosis, gingival, 3
611010GINGF4Fibromatosis, gingival, 4
610608GINS1Immunodeficiency 55
605072GIPC1Oculopharyngodistal myopathy 2
608792GIPC3Deafness 15
121014GJA1Erythrokeratodermia variabilis et progressiva 3; Craniometaphyseal dysplasia; Oculodentodigital dysplasia; Palmoplantar keratoderma with congenital alopecia; Syndactyly, type III; Oculodentodigital dysplasia
121015GJA3Cataract 14, multiple types
121013GJA5Atrial fibrillation, familial, 11; Atrial standstill, digenic (GJA5/SCN5A)
600897GJA8Cataract 1, multiple types
304040GJB1Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, X-linked dominant
121011GJB2Keratoderma, palmoplantar, with deafness; Deafness 1A, Digenic dominant; Deafness 3A; Hystrix-like ichthyosis with deafness; Bart-Pumphrey syndrome; Keratitis-ichthyosis-deafness syndrome; Vohwinkel syndrome
603324GJB3Deafness, digenic, GJB2/GJB3, Digenic dominant; Erythrokeratodermia variabilis et progressiva 1; Deafness 2B, with or without peripheral neuropathy
605425GJB4Erythrokeratodermia variabilis et progressiva 2
604418GJB6Ectodermal dysplasia 2, Clouston type; Deafness 3B; Deafness 1B; Deafness, digenic GJB2/GJB6, Digenic dominant
608803GJC2Lymphatic malformation 3; Spastic paraplegia 44; Leukodystrophy, hypomyelinating, 2
300474GKGlycerol kinase deficiency, X-linked recessive
300644GLAFabry disease, cardiac variant, X-linked; Fabry disease, X-linked
611458GLB1GM1-gangliosidosis, type I; GM1-gangliosidosis, type III; Mucopolysaccharidosis type IVB (Morquio); GM1-gangliosidosis, type II
606689GLC1BGlaucoma 1B, primary open angle, adult onset
601682GLC1CGlaucoma 1C, primary open angle
602429GLC1DGlaucoma 1D, primary open angle
609745GLC1IGlaucoma 1, open angle, I
608695GLC1JGlaucoma, primary open angle, juvenile-onset, 2
608696GLC1KGlaucoma 1K, primary open angle, juvenile-onset
610535GLC1MGlaucoma 1, open angle, M
611274GLC1NGlaucoma 1, open angle, N
600975GLC3BGlaucoma 3, primary infantile, B
613085GLC3CGlaucoma 3, primary congenital, C
614283GLCCI1Glucocorticoid therapy, response to
238300GLDCGlycine encephalopathy1
608603GLDNLethal congenital contracture syndrome 11
603371GLE1Lethal congenital contracture syndrome 1; Congenital arthrogryposis with anterior horn cell disease
165220GLI1Polydactyly, preaxial I; Polydactyly, postaxial, type A8
165230GLI2Culler-Jones syndrome; Holoprosencephaly 9
165240GLI3Greig cephalopolysyndactyly syndrome; Polydactyly, postaxial, types A1 and B; Pallister-Hall syndrome; Polydactyly, preaxial, type IV
608539GLIS2Nephronophthisis 7
610192GLIS3Diabetes mellitus, neonatal, with congenital hypothyroidism
607248GLM4Glioma susceptibility 4
613030GLM5Glioma susceptibility 5
613031GLM6Glioma susceptibility 6
613033GLM8Glioma susceptibility 8
601749GLMNGlomuvenous malformations
138491GLRA1Hyperekplexia 1
305990GLRA2Intellectual developmental disorder, X-linked syndromic, Pilorge type, X-linked
138492GLRBHyperekplexia 2
609588GLRX5Anemia, sideroblastic, 3, pyridoxine-refractory; Spasticity, childhood-onset, with hyperglycinemia
138280GLSGlobal developmental delay, progressive ataxia, and elevated glutamine; Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development; Developmental and epileptic encephalopathy 71
138130GLUD1Hyperinsulinism-hyperammonemia syndrome
138290GLULGlutamine deficiency, congenital; Developmental and epileptic encephalopathy 116
610516GLYCTKD-glyceric aciduria
613109GM2AGM2-gangliosidosis, AB variant
602842GMNNMeier-Gorlin syndrome 6
615495GMPPAAlacrima, achalasia, and impaired intellectual development syndrome
615320GMPPBMuscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14
139313GNA11Hypocalciuric hypercalcemia, type II; Hypocalcemia 2
139310GNAI1Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
139360GNAI2Ventricular tachycardia, idiopathic; Pituitary adenoma, ACTH-secreting, somatic
139370GNAI3Auriculocondylar syndrome 1
139312GNALDystonia 25
139311GNAO1Developmental and epileptic encephalopathy 17; Neurodevelopmental disorder with involuntary movements
600998GNAQCapillary malformations, congenital, 1, somatic, mosaic; Sturge-Weber syndrome, somatic, mosaic
139320GNASACTH-independent macronodular adrenal hyperplasia, Somatic mutation; Pituitary adenoma 3, multiple types, somatic; Pseudohypoparathyroidism Ic; Pseudohypoparathyroidism Ia; Osseous heteroplasia, progressive; Pseudohypoparathyroidism Ib; McCune-Albright syndrome, somatic, mosaic; Pseudopseudohypoparathyroidism
610540GNAS-AS1Pseudohypoparathyroidism Ib
139330GNAT1Night blindness, congenital stationary 3; Night blindness, congenital stationary, type 1G
139340GNAT2Achromatopsia 4
139380GNB1Myelodysplastic syndrome, somatic; Leukemia, acute lymphoblastic, somatic; Intellectual developmental disorder 42
139390GNB2Neurodevelopmental disorder with hypotonia and dysmorphic facies; Sick sinus syndrome 4
139130GNB3Night blindness, congenital stationary, type 1H; Hypertension, essential, susceptibility to, Multifactorial
610863GNB4Charcot-Marie-Tooth disease, dominant intermediate F
604447GNB5Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia; Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia
603824GNESialuria; Thrombocytopenia 12 with or without myopathy; Nonaka myopathy
606628GNMTGlycine N-methyltransferase deficiency
602744GNPATRhizomelic chondrodysplasia punctata, type 2
616510GNPNAT1Rhizomelic dysplasia, Ain-Naz type
607840GNPTABMucolipidosis III alpha/beta; Mucolipidosis II alpha/beta
607838GNPTGMucolipidosis III gamma
152760GNRH1Hypogonadotropic hypogonadism 12 with or without anosmia
138850GNRHRHypogonadotropic hypogonadism 7 without anosmia
607664GNSMucopolysaccharidosis type IIID
602580GOLGA2Developmental delay with hypotonia, myopathy, and brain abnormalities
617436GON7Galloway-Mowat syndrome 9
607983GORABGeroderma osteodysplasticum
604027GOSR2Epilepsy, progressive myoclonic 6; Muscular dystrophy, congenital, with or without seizures
138180GOT1Aspartate aminotransferase, serum level of, QTL1
138150GOT2Developmental and epileptic encephalopathy 82
606672GP1BABernard-Soulier syndrome, type A1 (recessive); Bernard-Soulier syndrome, type A2 (dominant); von Willebrand disease, platelet-type; Nonarteritic anterior ischemic optic neuropathy, susceptibility to
138720GP1BBGiant platelet disorder, isolated; Bernard-Soulier syndrome, type B
605546GP6Bleeding disorder, platelet-type, 11
173515GP9Bernard-Soulier syndrome, type C
603048GPAA1Glycosylphosphatidylinositol biosynthesis defect 15
300037GPC3Wilms tumor, somatic; Simpson-Golabi-Behmel syndrome, type 1, X-linked recessive
300168GPC4Keipert syndrome, X-linked recessive
604404GPC6Omodysplasia 1
138420GPD1Hypertriglyceridemia, transient infantile
611778GPD1LBrugada syndrome 2
138430GPD2Type 2 diabetes mellitus, susceptibility to
600510GPDS1Ocular pigment dispersion with or without glaucoma
603930GPHNMolybdenum cofactor deficiency C
172400GPIAnemia, congenital, nonspherocytic hemolytic, 4, glucose phosphate isomerase deficient
612757GPIHBP1Hyperlipoproteinemia, type 1D
604368GPNMBAmyloidosis, primary localized cutaneous, 3
300393GPR101Pituitary adenoma 2, GH-secreting, X-linked
300808GPR143Ocular albinism, type I, Nettleship-Falls type, X-linked; Nystagmus 6, congenital, X-linked, X-linked recessive
610464GPR156Deafness 121
612250GPR161Medulloblastoma predisposition syndrome, Somatic mutation
614515GPR179Night blindness, congenital stationary (complete), 1E
601404GPR68Amelogenesis imperfecta, hypomaturation type, IIA6
607468GPR88Chorea, childhood-onset, with psychomotor retardation
300969GPRASP2Deafness, X-linked 7, X-linked recessive
605948GPRC5BMegalencephalic leukoencephalopathy with subcortical cysts 3
609245GPSM2Chudley-McCullough syndrome
138210GPT2Neurodevelopmental disorder with microcephaly and spastic paraplegia
138320GPX1Hemolytic anemia due to glutathione peroxidase deficiency
138322GPX4Spondylometaphyseal dysplasia, Sedaghatian type
604330GRAPDeafness 114
275000GRD1Graves disease, susceptibility to, 1
603388GRD2Graves disease, susceptibility to, 2
300351GRDXGraves disease, susceptibility to, X-linked
617782GREB1LDeafness 80; Renal hypodysplasia/aplasia 3
608832GREM2Tooth agenesis, selective, 9
608576GRHL2Deafness 28; Ectodermal dysplasia/short stature syndrome; Corneal dystrophy, posterior polymorphous, 4
608317GRHL3van der Woude syndrome 2
604296GRHPRHyperoxaluria, primary, type II
138248GRIA1Intellectual developmental disorder 76; Intellectual developmental disorder 67
138247GRIA2Neurodevelopmental disorder with language impairment and behavioral abnormalities
305915GRIA3Intellectual developmental disorder, X-linked syndromic, Wu type, X-linked recessive
138246GRIA4Neurodevelopmental disorder with or without seizures and gait abnormalities
602368GRID2Spinocerebellar ataxia 18
138244GRIK2Neurodevelopmental disorder with impaired language and ataxia and with or without seizures; Intellectual developmental disorder 6
138249GRIN1Neurodevelopmental disorder with or without hyperkinetic movements and seizures; Developmental and epileptic encephalopathy 101; Neurodevelopmental disorder with or without hyperkinetic movements and seizures
138253GRIN2AEpilepsy, focal, with speech disorder and with or without impaired intellectual development
138252GRIN2BDevelopmental and epileptic encephalopathy 27; Intellectual developmental disorder 6, with or without seizures
602717GRIN2DDevelopmental and epileptic encephalopathy 46
604597GRIP1Fraser syndrome 3
180381GRK1Oguchi disease-2
604473GRM1Spinocerebellar ataxia 13; Spinocerebellar ataxia 44
604096GRM6Night blindness, congenital stationary (complete), 1B
604101GRM7Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities
138945GRNFrontotemporal dementia 2; Aphasia, primary progressive; Ceroid lipofuscinosis, neuronal, 11
613283GRXCR1Deafness 25
615762GRXCR2Deafness 101
138890GSCShort stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities
608798GSDMEDeafness 5
190100GSM1Geniospasm
137350GSNAmyloidosis, Finnish type
138300GSRAnemia, congenital, nonspherocytic hemolytic, 10, glutathione reductase deficient
601002GSSAnemia, congenital, nonspherocytic hemolytic, 6, glutatione synthetase deficient; Glutathione synthetase deficiency
603758GSTZ1Maleylacetoacetate isomerase deficiency
616253GSX2Diencephalic-mesencephalic junction dysplasia syndrome 2
189964GTF2E2Trichothiodystrophy 6, nonphotosensitive
608780GTF2H5Trichothiodystrophy 3, photosensitive
602245GTPBP1Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1
607434GTPBP2Jaberi-Elahi syndrome
608536GTPBP3Combined oxidative phosphorylation deficiency 23
600364GUCA1ACone-rod dystrophy 14; Cone dystrophy-3
602275GUCA1BRetinitis pigmentosa 48
139396GUCY1A1Moyamoya 6 with achalasia
601330GUCY2CDiarrhea 6; Meconium ileus
600179GUCY2DCone-rod dystrophy 6; Choroidal dystrophy, central areolar 1; Leber congenital amaurosis 1; Night blindness, congenital stationary, type 1I
617064GUF1Developmental and epileptic encephalopathy 40
240400GULOPScurvy
611499GUSBMucopolysaccharidosis VII
603942GYG1Glycogen storage disease XV; Polyglucosan body myopathy 2
617922GYPAMalaria, resistance to; Blood group, MNSs system
617923GYPBBlood group, Ss; Malaria, resistance to
110750GYPCBlood group, Gerbich; Malaria, resistance to
138570GYS1Glycogen storage disease 0, muscle
138571GYS2Glycogen storage disease 0, liver
613842GZF1Joint laxity, short stature, and myopia
142220H1-4Rahman syndrome
601128H3-3ABryant-Li-Bhoj neurodevelopmental syndrome 1
601058H3-3BBryant-Li-Bhoj neurodevelopmental syndrome 2
602826H4C11Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 2
602827H4C3Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1
602830H4C5Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 3
602833H4C9Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 4
138090H6PDCortisone reductase deficiency 1
604521HAAOVertebral, cardiac, renal, and limb defects syndrome 1
603924HABP2Thyroid cancer, nonmedullary, 5; Venous thromboembolism, susceptibility to
610467HACD1Congenital myopathy 11
610876HACE1Spastic paraplegia and psychomotor retardation with or without seizures
601609HADHHyperinsulinemic hypoglycemia, familial, 4; 3-hydroxyacyl-CoA dehydrogenase deficiency
600890HADHAHELLP syndrome, maternal, of pregnancy; LCHAD deficiency; Mitochondrial trifunctional protein deficiency 1; Fatty liver, acute, of pregnancy
143450HADHBMitochondrial trifunctional protein deficiency 2
138760HAGHGlyoxalase II deficiency
609457HALHistidinemia
606464HAMPHemochromatosis, type 2B
142810HARS1Charcot-Marie-Tooth disease, axonal, type 2W; Usher syndrome type 3B
600783HARS2Perrault syndrome 2
606652HAVCR2T-cell lymphoma, subcutaneous panniculitis-like
605998HAX1Neutropenia, severe congenital 3
141800HBA1Hemoglobin H disease, nondeletional; Thalassemias, alpha-; Heinz body anemias, alpha-; Methemoglobinemia, alpha type; Erythrocytosis, familial, 7
141850HBA2Heinz body anemia; Thalassemia, alpha-; Erythrocytosis, familial, 7; Hemoglobin H disease, deletional and nondeletional
141900HBBMethemoglobinemia, beta type; Thalassemia-beta, dominant inclusion-body; Sickle cell disease; Thalassemia, beta; Delta-beta thalassemia; Malaria, resistance to; Hereditary persistence of fetal hemoglobin; Erythrocytosis, familial, 6; Heinz body anemia
142000HBDThalassemia due to Hb Lepore; Thalassemia, delta-
126150HBEGFDiphtheria, susceptibility to
142470HBFQTL2Fetal hemoglobin quantitative trait locus 2
606789HBFQTL4Fetal hemoglobin quantitative trait locus 4
142200HBG1Fetal hemoglobin quantitative trait locus 1
142250HBG2Fetal hemoglobin quantitative trait locus 1; Cyanosis, transient neonatal
607258HCA1Hypercalciuria, absorptive
300056HCCSLinear skin defects with multiple congenital anomalies 1, X-linked dominant
300019HCFC1Methylmalonic aciduria and homocysteinemia, cblX type, X-linked recessive
609319HCHGQ1Hematocrit/hemoglobin quantitative trait locus 1
609320HCHGQ2Hematocrit/hemoglobin quantitative trait locus 2
613284HCHGQ3Hematocrit/hemoglobin quantitative trait locus 3
142370HCKAutoinflammation with pulmonary and cutaneous vasculitis
602780HCN1Developmental and epileptic encephalopathy 24; Generalized epilepsy with febrile seizures plus, type 10
602781HCN2Febrile seizures, familial, 2; Epilepsy, idiopathic generalized, susceptibility to, 17; Generalized epilepsy with febrile seizures plus, type 11
605206HCN4Sick sinus syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 18; Brugada syndrome 8
602358HCRTNarcolepsy 1
122460HCVSHuman coronavirus sensitivity
605314HDAC4Neurodevelopmental disorder with central hypotonia and dysmorphic facies
300272HDAC6Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, X-linked dominant
300269HDAC8Cornelia de Lange syndrome 5, X-linked dominant
606543HDAC9Auriculocondylar syndrome 4
142704HDCGilles de la Tourette syndrome, susceptibility to
123155HDCPH1Hydrocephalus
604802HDL3Huntington disease-like 3
607687HDLC3High density lipoprotein cholesterol, low serum, 3
606613HDLCQ1High density lipoprotein cholesterol level QTL 1
605201HDLCQ14High density lipoprotein cholesterol level QTL14
607053HDLCQ2High density lipoprotein cholesterol level QTL 2
610239HDLCQ4High density lipoprotein cholesterol level QTL 4
610761HDLCQ5High density lipoprotein cholesterol level QTL 5
618979HDLCQ7High density lipoprotein cholesterol level QTL7
300221HDPAHodgkin disease susceptibility, pseudoautosomal
614951HEATR3Diamond-Blackfan anemia 21
620209HECTD4Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
617245HECW2Neurodevelopmental disorder with hypotonia, seizures, and absent language
603946HELLSImmunodeficiency-centromeric instability-facial anomalies syndrome 4
611642HEPACAMMegalencephalic leukoencephalopathy with subcortical cysts 2A; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development
618455HEPHL1Abnormal hair, joint laxity, and developmental delay
605109HERC1Macrocephaly, dysmorphic facies, and psychomotor retardation
605837HERC2Intellectual developmental disorder 38; Skin/hair/eye pigmentation 1, blond/brown hair; Skin/hair/eye pigmentation 1, blue/nonblue eyes
608059HES7Spondylocostal dysostosis 4
601802HESX1Pituitary hormone deficiency, combined, 5; Septooptic dysplasia; Growth hormone deficiency with pituitary anomalies
606869HEXAHex A pseudodeficiency; GM2-gangliosidosis, several forms; Tay-Sachs disease
606873HEXBSandhoff disease, infantile, juvenile, and adult forms
425500HEYHairy ears, Y-linked, Y-linked
613609HFEHemochromatosis, type 1
615684HFM1Premature ovarian failure 9
607474HGDAlkaptonuria
142409HGFDeafness 39
610453HGSNATMucopolysaccharidosis type IIIC (Sanfilippo C); Retinitis pigmentosa 73
605743HHATNivelon-Nivelon-Mabille syndrome
144110HHPPHyperhidrosis palmaris et plantaris
601101HHT3Telangiectasia, hereditary hemorrhagic, type 3
610655HHT4Telangiectasia, hereditary hemorrhagic, type 4
614836HHV8SHuman herpesvirus 8, susceptibility to
610690HIBCH3-hydroxyisobutryl-CoA hydrolase deficiency
605752HID1Developmental and epileptic encephalopathy 105 with hypopituitarism
614908HIKESHILeukodystrophy, hypomyelinating, 13
601314HINT1Neuromyotonia and axonal neuropathy
143054HIVEP2Intellectual developmental disorder 43
608374HJVHemochromatosis, type 2A
142600HK1Anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient; Retinitis pigmentosa 79; Neuropathy, hereditary motor and sensory, Russe type; Neurodevelopmental disorder with visual defects and brain anomalies
617221HKDC1Retinitis pigmentosa 92
142800HLA-AHypersensitivity syndrome, carbamazepine-induced, susceptibility to
142830HLA-BSynovitis, chronic, susceptibility to; Abacavir hypersensitivity, susceptibility to; Spondyloarthropathy, susceptibility to, 1, Multifactorial; Stevens-Johnson syndrome, susceptibility to; Drug-induced liver injury due to flucloxacillin; Toxic epidermal necrolysis, susceptibility to
142840HLA-CPsoriasis susceptibility 1, Multifactorial; HIV-1 viremia, susceptibility to
142858HLA-DPB1Beryllium disease, chronic, susceptibility to
146880HLA-DQA1Celiac disease, susceptibility to, Multifactorial
604305HLA-DQB1Celiac disease, susceptibility to, Multifactorial; Multiple sclerosis, susceptibility to, 1, Multifactorial; Creutzfeldt-Jakob disease, variant, resistance to
142857HLA-DRB1Multiple sclerosis, susceptibility to, 1, Multifactorial; Sarcoidosis, susceptibility to, 1
142871HLA-GAsthma, susceptibility to
609018HLCSHolocarboxylase synthetase deficiency
609806HMBSLeukoencephalopathy, porphyria-related; Encephalopathy, porphyria-related; Porphyria, acute intermittent, nonerythroid variant; Porphyria, acute intermittent
608548HMCN1Macular degeneration, age-related, 1
600701HMGA1Type 2 diabetes mellitus, susceptibility to
600698HMGA2Silver-Russell syndrome 5
300193HMGB3Microphthalmia, syndromic 13, X-linked
613898HMGCLHMG-CoA lyase deficiency
142910HMGCRMuscular dystrophy, limb-girdle 28; Statins, response to; Low density lipoprotein cholesterol level QTL 3
600234HMGCS2HMG-CoA synthase-2 deficiency
600936HMMRBreast cancer, susceptibility to, Somatic mutation
141250HMOX1Heme oxygenase-1 deficiency; Pulmonary disease, chronic obstructive, susceptibility to
600361HMSN5Hereditary motor and sensory neuropathy V
142992HMX1Oculoauricular syndrome
142410HNF1AHepatic adenoma, somatic; Diabetes mellitus, insulin-dependent, 20; Diabetes mellitus, noninsulin-dependent, 2; MODY, type III; Diabetes mellitus, insulin-dependent; Renal cell carcinoma
189907HNF1BType 2 diabetes mellitus; Renal cysts and diabetes syndrome; Renal cell carcinoma
600281HNF4AFanconi renotubular syndrome 4, with maturity-onset diabetes of the young; Diabetes mellitus, noninsulin-dependent; MODY, type I
614227HNFJ3Hyperuricemic nephropathy, familial juvenile, 3
605238HNMTIntellectual developmental disorder 51; Asthma, susceptibility to
608026HNP1Hypertensive nephropathy
164017HNRNPA1Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3; Myopathy, distal, 3; Amyotrophic lateral sclerosis 20
600124HNRNPA2B1Oculopharyngeal muscular dystrophy 2; Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
164020HNRNPCIntellectual developmental disorder 74
607137HNRNPDLMuscular dystrophy, limb-girdle 3
601035HNRNPH1Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
300610HNRNPH2Intellectual developmental disorder, X-linked syndromic, Bain type, X-linked dominant
600712HNRNPKAu-Kline syndrome
607201HNRNPRNeurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
602869HNRNPUDevelopmental and epileptic encephalopathy 54
613597HOGA1Hyperoxaluria, primary, type III
604799HOMER2Deafness 68
142955HOXA1Bosley-Salih-Alorainy syndrome; Athabaskan brainstem dysgenesis syndrome
142958HOXA11Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
142959HOXA13Hand-foot-genital syndrome; Guttmacher syndrome
604685HOXA2Microtia with or without hearing impairment (AD); Microtia, hearing impairment, and cleft palate (AR)
142968HOXB1Facial paresis, hereditary congenital, 3
604607HOXB13Prostate cancer, hereditary, 9
142976HOXC13Ectodermal dysplasia 9, hair/nail type
142984HOXD10Vertical talus, congenital; Charcot-Marie-Tooth disease, foot deformity of
142989HOXD13Syndactyly, type V; Synpolydactyly 1; Brachydactyly, type E; Brachydactyly, type D; Brachydactyly-syndactyly syndrome
140100HPAnhaptoglobinemia; Hypohaptoglobinemia
611100HPC10Prostate cancer, hereditary, 10
611958HPC14Prostate cancer, hereditary, 14
611959HPC15Prostate cancer, hereditary, 15
608656HPC3Prostate cancer, susceptibility to, 3
608658HPC4Prostate cancer, susceptibility to, 4
609299HPC5Prostate cancer, hereditary, 5
609558HPC6Prostate cancer, susceptibility to
610321HPC7Prostate cancer, hereditary, 7
142622HPCADystonia 2, torsion
607592HPCQTL19Prostate cancer aggressiveness QTL
300147HPCXProstate cancer, hereditary, X-linked 1
300704HPCX2Prostate cancer, hereditary, X-linked 2
609695HPDHawkinsinuria; Tyrosinemia, type III
618994HPDLNeurodevelopmental disorder with progressive spasticity and brain white matter abnormalities; Spastic paraplegia 83
236100HPE1Holoprosencephaly 1, Isolated cases
605934HPE6Holoprosencephaly 6
609408HPE8Holoprosencephaly 8
142335HPFH2Fetal hemoglobin QTL5
601688HPGDDigital clubbing, isolated congenital; Hypertrophic osteoarthropathy, primary 1; Cranioosteoarthropathy
267700HPLH1Hemophagocytic lymphohistiocytosis, familial, 1
614187HPPDHypertelorism, preauricular sinus, punctal pits, and deafness
612089HPRHPHypophosphatemic rickets and hyperparathyroidism
308000HPRT1Hyperuricemia, HRPT-related, X-linked recessive; Lesch-Nyhan syndrome, X-linked recessive
604982HPS1Hermansky-Pudlak syndrome 1
606118HPS3Hermansky-Pudlak syndrome 3
606682HPS4Hermansky-Pudlak syndrome 4
607521HPS5Hermansky-Pudlak syndrome 5
607522HPS6Hermansky-Pudlak syndrome 6
613469HPSE2Urofacial syndrome 1
602302HRAtrichia with papular lesions; Alopecia universalis
190020HRASBladder cancer, somatic; Thyroid carcinoma, follicular, somatic; Congenital myopathy with excess of muscle spindles; Nevus sebaceous or woolly hair nevus, somatic; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic; Spitz nevus or nevus spilus, somatic; Costello syndrome
142640HRGThrombophilia 11 due to HRG deficiency
139450HRM2Hair, curly
618611HROBOvarian dysgenesis 11
610071HRPT3Hyperparathyroidism 3
619257HRURFHypotrichosis 4
604844HS2ST1Neurofacioskeletal syndrome with or without renal agenesis
619210HS3ST6Angioedema, hereditary, 8
604846HS6ST1Hypogonadotropic hypogonadism 15 with or without anosmia
300545HS6ST2Paganini-Miozzo syndrome, X-linked recessive
608142HSCBAnemia, sideroblastic, 5
600156HSCR5Hirschsprung disease, susceptibility to, 5
606874HSCR6Hirschsprung disease, susceptibility to, 6
606875HSCR7Hirschsprung disease, susceptibility to, 7
608462HSCR8Hirschsprung disease, susceptibility to, 8
611644HSCR9Hirschsprung disease, susceptibility to, 9
600713HSD11B1Cortisone reductase deficiency 2
614232HSD11B2Apparent mineralocorticoid excess
300256HSD17B10HSD10 mitochondrial disease, X-linked dominant
612127HSD17B13Fatty liver disease, protection from
605573HSD17B3Pseudohermaphroditism, male, with gynecomastia
601860HSD17B4D-bifunctional protein deficiency; Perrault syndrome 1
613890HSD3B2Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency
607764HSD3B7Bile acid synthesis defect, congenital, 1
604554HSF2BPPremature ovarian failure 19
602438HSF4Cataract 5, multiple types
608088HSN1BNeuropathy, hereditary sensory, type IB
600548HSPA9Even-plus syndrome; Anemia, sideroblastic, 4
602195HSPB1Charcot-Marie-Tooth disease, axonal, type 2F; Neuronopathy, distal hereditary motor 3
604624HSPB3Neuronopathy, distal hereditary motor 4
608014HSPB8Neuronopathy, distal hereditary motor 2; Charcot-Marie-Tooth disease, axonal, type 2L
118190HSPD1Spastic paraplegia 13; Leukodystrophy, hypomyelinating, 4
142461HSPG2Dyssegmental dysplasia, Silverman-Handmaker type; Schwartz-Jampel syndrome, type 1
139900HSRHandedness
140300HTHashimoto thyroiditis
145701HTC1Hypertrichosis universalis congenita, Ambras type
109760HTR1APeriodic fever, menstrual cycle dependent
182135HTR2AMajor depressive disorder, response to citalopram therapy in; Obsessive-compulsive disorder, susceptibility to; Schizophrenia, susceptibility to
602194HTRA1Macular degeneration, age-related, neovascular type; Macular degeneration, age-related, 7; CARASIL syndrome; Cerebral arteriopathy, with subcortical infarcts and leukoencephalopathy, type 2
606441HTRA2Parkinson disease 13; 3-methylglutaconic aciduria, type VIII
613004HTTLopes-Maciel-Rodan syndrome; Huntington disease
606325HTX3Heterotaxy, visceral, 3, autosomal
300697HUWE1Intellectual developmental disorder, X-linked syndromic, Turner type, X-linked
613339HWE1Epilepsy, hot water, 1
613340HWE2Epilepsy, hot water, 2
607071HYAL1Mucopolysaccharidosis type IX
610531HYCC1Leukodystrophy, hypomyelinating, 5
602639HYD2Tooth agenesis, selective, 2
610812HYDINCiliary dyskinesia, primary, 5
610693HYLS1Hydrolethalus syndrome
601746HYOU1Immunodeficiency 59 and hypoglycemia
614238HYP10Hypotrichosis 10
604499HYPLIP2Hyperlipidemia, combined, 2
614237HYPT9Hypotrichosis 9
146450HYSP3Hypospadias 3, autosomal, Multifactorial
300856HYSP4Hypospadias 4, X-linked, susceptibility to
603918HYT1Hypertension, essential, susceptibility to, 1, Multifactorial
604329HYT2Hypertension, essential, susceptibility to, 2, Multifactorial
607329HYT3Hypertension, essential, susceptibility to, 3, Multifactorial
608742HYT4Hypertension, essential, susceptibility to, 4, Multifactorial
610261HYT5Hypertension, essential, susceptibility to, 5, Multifactorial
610262HYT6Hypertension, essential, susceptibility to, 6, Multifactorial
610948HYT7Hypertension, essential, susceptibility to, 7
611014HYT8Hypertension, essential, susceptibility to, 8
600709IARS1Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
612801IARS2Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
615316IBA57Multiple mitochondrial dysfunctions syndrome 3; Spastic paraplegia 74
191390IBD11Inflammatory bowel disease 11, Multifactorial
612241IBD12Inflammatory bowel disease 12
612255IBD15Inflammatory bowel disease 15
612259IBD16Inflammatory bowel disease 16
612262IBD18Inflammatory bowel disease 18
601458IBD2Inflammatory bowel disease 2
612288IBD20Inflammatory bowel disease 20
612354IBD21Inflammatory bowel disease 21
612380IBD22Inflammatory bowel disease 22
612381IBD23Inflammatory bowel disease 23
612566IBD24Inflammatory bowel disease 24
612639IBD26Inflammatory bowel disease 26
612796IBD27Inflammatory bowel disease 27
604519IBD3Inflammatory bowel disease 3
606675IBD4Inflammatory bowel disease 4
606348IBD5Inflammatory bowel disease 5
606674IBD6Inflammatory bowel disease 6
605225IBD7Inflammatory bowel disease 7
606668IBD8Inflammatory bowel disease 8
608448IBD9Inflammatory bowel disease 9
147840ICAM1Malaria, cerebral, susceptibility to
614088ICAM4Blood group, Landsteiner-Wiener
604558ICOSImmunodeficiency, common variable, 1
605717ICOSLGImmunodeficiency 119
601208IDDM11Diabetes mellitus, insulin-dependent, 11
601318IDDM13Diabetes mellitus, insulin-dependent, 13
601666IDDM15Diabetes mellitus, insulin-dependent, 15
603266IDDM17Diabetes mellitus, insulin-dependent, 17
605598IDDM18Diabetes mellitus, insulin-dependent, 18
612622IDDM23Diabetes mellitus, insulin-dependent, 23
613006IDDM24Diabetes mellitus, insulin-dependent, 24
600318IDDM3Diabetes mellitus, insulin-dependent, 3
600319IDDM4Diabetes mellitus, insulin-dependent, 4
601941IDDM6Diabetes mellitus, insulin-dependent, 6
600321IDDM7Diabetes mellitus, insulin-dependent, 7
600883IDDM8Diabetes mellitus, insulin-dependent, 8
300136IDDMXDiabetes mellitus, insulin-dependent, X-linked
147700IDH1Glioma, susceptibility to, somatic
147650IDH2D-2-hydroxyglutaric aciduria 2
601149IDH3ARetinitis pigmentosa 90
604526IDH3BRetinitis pigmentosa 46
300823IDSMucopolysaccharidosis II, X-linked recessive
252800IDUAMucopolysaccharidosis Is; Mucopolysaccharidosis Ih/s; Mucopolysaccharidosis Ih
609382IER3IP1Microcephaly, epilepsy, and diabetes syndrome
606951IFIH1Immunodeficiency 95; Aicardi-Goutieres syndrome 7; Singleton-Merten syndrome 1
605579IFITM3Influenza, severe, susceptibility to
614757IFITM5Osteogenesis imperfecta, type V
147660IFNA1Interferon, alpha, deficiency
107450IFNAR1Immunodeficiency 106, susceptibility to viral infections
602376IFNAR2Hepatitis B virus, susceptibility to; Immunodeficiency 45
147570IFNGHepatitis C virus, response to therapy of; TSC2 angiomyolipomas, renal, modifier of; Aplastic anemia; Immunodeficiency 69, mycobacteriosis; Tuberculosis, protection against; AIDS, rapid progression to
107470IFNGR1H. pylori infection, susceptibility to; Immunodeficiency 27A, mycobacteriosis, AR; Immunodeficiency 27B, mycobacteriosis, AD; Tuberculosis infection, protection against; Tuberculosis, susceptibility to; Hepatitis B virus infection, susceptibility to
147569IFNGR2Immunodeficiency 28, mycobacteriosis
607402IFNL3Hepatitis C virus infection, response to therapy of
606045IFT122Cranioectodermal dysplasia 1
614620IFT140Short-rib thoracic dysplasia 9 with or without polydactyly; Retinitis pigmentosa 80
607386IFT172Retinitis pigmentosa 71; Bardet-Biedl syndrome 20; Short-rib thoracic dysplasia 10 with or without polydactyly
615870IFT27Bardet-Biedl syndrome 19
614068IFT43Cranioectodermal dysplasia 3; Retinitis pigmentosa 81; Short-rib thoracic dysplasia 18 with polydactyly
617094IFT52Short-rib thoracic dysplasia 16 with or without polydactyly
617453IFT56Biliary, renal, neurologic, and skeletal syndrome
606621IFT57Orofaciodigital syndrome XVIII
608040IFT74Bardet-Biedl syndrome 22; Spermatogenic failure 58; Joubert syndrome 40
611177IFT80Short-rib thoracic dysplasia 2 with or without polydactyly
605489IFT81Short-rib thoracic dysplasia 19 with or without polydactyly
137100IGAD1Immunoglobulin A deficiency, Isolated cases
161950IGAN1IgA nephropathy, susceptibility to, 1, Autosomal dominant
613944IGAN2IgA nephropathy, susceptibility to, 2, Autosomal dominant
300139IGBP1Corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia, X-linked recessive
147061IGESAllergy and asthma susceptibility
147440IGF1Insulin-like growth factor I deficiency
147370IGF1RInsulin-like growth factor I, resistance to
147470IGF2Silver-Russell syndrome 3
608289IGF2BP2Diabetes mellitus, noninsulin-dependent, susceptibility to
147280IGF2RHepatocellular carcinoma, somatic
601489IGFALSAcid-labile subunit, deficiency of
602867IGFBP7Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
147110IGHG2IgG2 deficiency, selective
147020IGHMAgammaglobulinemia 1
600502IGHMBP2Charcot-Marie-Tooth disease, axonal, type 2S; Neuronopathy, distal hereditary motor 1
147200IGKCKappa light chain deficiency
146770IGLL1Agammaglobulinemia 2
300137IGSF1Hypothyroidism, central, and testicular enlargement, X-linked recessive
603491IGSF3Lacrimal duct defect
235000IHHemihypertrophy
600726IHHAcrocapitofemoral dysplasia; Brachydactyly, type A1
610260IHPS2Pyloric stenosis, infantile hypertrophic, 2
612017IHPS3Pyloric stenosis, infantile hypertrophic, 3
300711IHPS4Pyloric stenosis, infantile hypertrophic, 4
612525IHPS5Pyloric stenosis, infantile hypertrophic, 5
603258IKBKBImmunodeficiency 15B; Immunodeficiency 15A
300248IKBKGIncontinentia pigmenti, X-linked dominant; Ectodermal dysplasia and immunodeficiency 1, X-linked recessive; Immunodeficiency 33, X-linked recessive; Autoinflammatory disease, systemic, X-linked, X-linked
603023IKZF1Immunodeficiency, common variable, 13
606221IKZF3Immunodeficiency 84
606238IKZF5Thrombocytopenia, 7
124092IL10Rheumatoid arthritis, progression of; Graft-versus-host disease, protection against; HIV-1, susceptibility to
146933IL10RAInflammatory bowel disease 28, early onset
123889IL10RBHepatitis B virus, susceptibility to; Inflammatory bowel disease 25, early onset
600939IL11RACraniosynostosis and dental anomalies
161561IL12BImmunodeficiency 29, mycobacteriosis
601604IL12RB1Immunodeficiency 30
147683IL13Asthma, susceptibility to; Allergic rhinitis, susceptibility to
606496IL17FCandidiasis, familial, 6
605461IL17RAImmunodeficiency 51
610925IL17RCCandidiasis, familial, 9
606807IL17RDHypogonadotropic hypogonadism 18 with or without anosmia, Digenic dominant
604113IL18BPHepatitis, fulminant viral, susceptibility to
147720IL1BGastric cancer risk after H. pylori infection
147810IL1R1Chronic recurrent multifocal osteomyelitis 3
300206IL1RAPL1Intellectual developmental disorder, X-linked 21, X-linked recessive
147679IL1RNChronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis; Gastric cancer risk after H. pylori infection; Microvascular complications of diabetes 4; Interleukin 1 receptor antagonist deficiency
605384IL21Immunodeficiency, common variable, 11
605383IL21RImmunodeficiency 56
607562IL23RInflammatory bowel disease 17, protection against; Psoriasis, protection against
147730IL2RAImmunodeficiency 41 with lymphoproliferation and autoimmunity; Diabetes, mellitus, insulin-dependent, susceptibility to, 10
146710IL2RBImmunodeficiency 63 with lymphoproliferation and autoimmunity
308380IL2RGCombined immunodeficiency, X-linked, moderate, X-linked recessive; Severe combined immunodeficiency, X-linked, X-linked recessive
609510IL31RAAmyloidosis, primary localized cutaneous, 2
605507IL36RNPsoriasis 14, pustular
605510IL37Inflammatory bowel disease (infantile ulcerative colitis) 31
147620IL6Type 2 diabetes mellitus; Rheumatoid arthritis, systemic juvenile; Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to, Somatic mutation; Type 1 diabetes mellitus; Kaposi sarcoma in HIV+, susceptibility to; Crohn disease-associated growth failure, Multifactorial
147880IL6RInterleukin 6, serum level of, QTL; Hyper-IgE syndrome 5, with recurrent infections; Interleukin-6 receptor, soluble, serum level of, QTL
600694IL6STHyper-IgE syndrome 4A, with recurrent infections; Stuve-Wiedemann syndrome 2; Hyper-IgE syndrome 4B, with recurrent infections; Immunodeficiency 94 with autoinflammation and dysmorphic facies
146660IL7Epidermodysplasia verruciformis, susceptibility to, 5
146661IL7RImmunodeficiency 104, severe combined
609739ILDR1Deafness 42
602064IMPA1Intellectual developmental disorder 59
146690IMPDH1Retinitis pigmentosa 10; Leber congenital amaurosis 11
146691IMPDH2IMPDH2 enzyme activity, variation in
602870IMPG1Macular dystrophy, vitelliform, 4; Retinitis pigmentosa 91
607056IMPG2Retinitis pigmentosa 56; Macular dystrophy, vitelliform, 5
618051INAVAInflammatory bowel disease 29
300076INDXWoods-Black-Norbury syndrome, X-linked dominant
610982INF2Glomerulosclerosis, focal segmental, 5; Charcot-Marie-Tooth disease, dominant intermediate E
601566ING1Squamous cell carcinoma, head and neck, somatic
613037INPP5EImpaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome; Joubert syndrome 1
607875INPP5KMuscular dystrophy, congenital, with cataracts and intellectual disability
600829INPPL1Opsismodysplasia
176730INSDiabetes mellitus, insulin-dependent, 2; Maturity-onset diabetes of the young, type 10; Hyperproinsulinemia; Diabetes mellitus, permanent neonatal 4
146738INSL3Cryptorchidism
147670INSRRabson-Mendenhall syndrome; Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Donohue syndrome; Hyperinsulinemic hypoglycemia, familial, 5
603783INTLQ1Intelligence QTL1
610295INTLQ2Intelligence QTL3
610294INTLQ3Intelligence QTL3
611345INTS1Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
611354INTS11Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
611351INTS8Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
610621INTUOrofaciodigital syndrome XVII; Short-rib thoracic dysplasia 20 with polydactyly
243305INVSNephronophthisis 2, infantile
605600IPO8VISS syndrome
609237IQCB1Senior-Loken syndrome 5
617631IQCEPolydactyly, postaxial, type A7
620160IQCNSpermatogenic failure 78
610166IQSEC1Intellectual developmental disorder with short stature and behavioral abnormalities
300522IQSEC2Intellectual developmental disorder, X-linked 1, X-linked dominant
604459IRAK3Asthma susceptibility 5
606883IRAK4Immunodeficiency 67
147582IREB2Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
147575IRF1Nonsmall cell lung cancer, somatic; Gastric cancer, somatic; Immunodeficiency 117, mycobacteriosis
615332IRF2BP2Immunodeficiency, common variable, 14
611720IRF2BPLNeurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
603734IRF3Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7
601900IRF4Skin/hair/eye pigmentation, variation in, 8
607218IRF5Inflammatory bowel disease 14; Systemic lupus erythematosus, susceptibility to, 10
607199IRF6Orofacial cleft 6; Popliteal pterygium syndrome 1; van der Woude syndrome 1
605047IRF7Immunodeficiency 39
601565IRF8Immunodeficiency 32A, mycobacteriosis; Immunodeficiency 32B, monocyte and dendritic cell deficiency
147574IRF9Immunodeficiency 65, susceptibility to viral infections
608212IRGMMycobacterium tuberculosis, protection against; Inflammatory bowel disease (Crohn disease) 19
147545IRS1Type 2 diabetes mellitus, susceptibility to
600797IRS2Diabetes mellitus, noninsulin-dependent
300904IRS4Hypothyroidism, congenital, nongoitrous, 9, X-linked recessive
606195IRX5Hamamy syndrome
181800IS1Scoliosis, idiopathic 1
607354IS2Scoliosis, idiopathic 2
612238IS4Scoliosis, idiopathic, susceptibility to, 4
612239IS5Scoliosis, idiopathic, susceptibility to, 5
611006ISCA1Multiple mitochondrial dysfunctions syndrome 5
615317ISCA2Multiple mitochondrial dysfunctions syndrome 4
611911ISCUMyopathy with lactic acidosis, hereditary
147571ISG15Immunodeficiency 38
606409ITCHAutoimmune disease, multisystem, with facial dysmorphism
607759ITGA2BThrombocytopenia, neonatal alloimmune, BAK antigen related; Glanzmann thrombasthenia 1; Bleeding disorder, platelet-type, 16
605025ITGA3Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
147556ITGA6Epidermolysis bullosa, junctional 6, with pyloric atresia
600536ITGA7Muscular dystrophy, congenital, due to ITGA7 deficiency
604063ITGA8Renal hypodysplasia/aplasia 1
600065ITGB2Leukocyte adhesion deficiency
173470ITGB3Bleeding disorder, platelet-type, 24; Thrombocytopenia, neonatal alloimmune; Purpura, posttransfusion; Myocardial infarction, susceptibility to; Glanzmann thrombasthenia 2
147557ITGB4Epidermolysis bullosa, junctional 5B, with pyloric atresia; Epidermolysis bullosa, junctional 5A, intermediate
147558ITGB6Amelogenesis imperfecta, type IH
186973ITKLymphoproliferative syndrome 1
603904ITM2BRetinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities; Dementia, familial British; Dementia, familial Danish
147520ITPAInosine triphosphatase deficiency; Developmental and epileptic encephalopathy 35
147265ITPR1Gillespie syndrome; Spinocerebellar ataxia 29, congenital nonprogressive; Spinocerebellar ataxia 15
600144ITPR2Anhidrosis, isolated, with normal sweat glands
147267ITPR3Charcot-Marie-Tooth disease, demyelinating, type 1J; Diabetes, type 1, susceptibility to
607036IVDIsovaleric acidemia
609209IVNS1ABPImmunodeficiency 70
612025IYDThyroid dyshormonogenesis 4
601920JAG1Deafness, congenital heart defects, and posterior embryotoxon; Charcot-Marie-Tooth disease, axonal, type 2HH; Alagille syndrome 1; Tetralogy of Fallot
602570JAG2Muscular dystrophy, limb-girdle 27
616012JAGN1Neutropenia, severe congenital, 6
147795JAK1Autoinflammation, immune dysregulation, and eosinophilia
147796JAK2Budd-Chiari syndrome, somatic; Myelofibrosis, somatic; Erythrocytosis, somatic; Leukemia, acute myeloid, somatic; Thrombocythemia 3, Somatic mutation; Polycythemia vera, somatic
600173JAK3Severe combined immunodeficiency, T-negative/B-positive type
606870JAM2Basal ganglia calcification, idiopathic, 8
606871JAM3Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
601594JARID2Developmental delay with variable intellectual disability and dysmorphic facies
605266JPH1Congenital myopathy 25; Charcot-Marie-Tooth disease, axonal, type 2K, modifier of
605267JPH2Cardiomyopathy, dilated, 2E; Cardiomyopathy, hypertrophic, 17
605268JPH3Huntington disease-like 2
173325JUPNaxos disease; Arrhythmogenic right ventricular dysplasia 12
607704KANK1Cerebral palsy, spastic quadriplegic, 2
614610KANK2Nephrotic syndrome, type 16; Palmoplantar keratoderma and woolly hair
612452KANSL1Koolen-De Vries syndrome
601421KARS1Deafness 89; Leukoencephalopathy, progressive, infantile-onset, with or without deafness; Charcot-Marie-Tooth disease, recessive intermediate, B; Deafness, congenital, and adult-onset progressive leukoencephalopathy
618125KASH5Spermatogenic failure 88; Premature ovarian failure 22
601409KAT5Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
601408KAT6AArboleda-Tham syndrome
605880KAT6BSBBYSS syndrome; Genitopatellar syndrome
609912KAT8Li-Ghorgani-Weisz-Hubshman syndrome
602703KATNB1Lissencephaly 6, with microcephaly
616650KATNIPJoubert syndrome 26
608207KAZA1Kala-azar, susceptibility to, 1
611381KAZA2Kala-azar, susceptibility to, 2
611382KAZA3Kala-azar, susceptibility to, 3
613727KBTBD13Nemaline myopathy 6
176260KCNA1Episodic ataxia/myokymia syndrome
176262KCNA2Developmental and epileptic encephalopathy 32
176266KCNA4Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
176267KCNA5Atrial fibrillation, familial, 7
600397KCNB1Developmental and epileptic encephalopathy 26
176258KCNC1Epilepsy, progressive myoclonic 7
176256KCNC2Developmental and epileptic encephalopathy 103
176264KCNC3Spinocerebellar ataxia 13
605411KCND3Spinocerebellar ataxia 19; Brugada syndrome 9
176261KCNE1Jervell and Lange-Nielsen syndrome 2; Long QT syndrome 5
603796KCNE2Long QT syndrome 6; Atrial fibrillation, familial, 4
604433KCNE3Brugada syndrome 6
603305KCNH1Zimmermann-Laband syndrome 1; Temple-Baraitser syndrome
152427KCNH2Short QT syndrome 1; Long QT syndrome 2
605716KCNH5Developmental and epileptic encephalopathy 112
600359KCNJ1Bartter syndrome, type 2
602208KCNJ10Enlarged vestibular aqueduct, digenic; SESAME syndrome
600937KCNJ11Diabetes, permanent neonatal 2, with or without neurologic features; Diabetes mellitus, type 2, susceptibility to; Maturity-onset diabetes of the young, type 13; Diabetes mellitus, transient neonatal 3; Hyperinsulinemic hypoglycemia, familial, 2
603208KCNJ13Snowflake vitreoretinal degeneration; Leber congenital amaurosis 16
605722KCNJ16Hypokalemic tubulopathy and deafness
613236KCNJ18Thyrotoxic periodic paralysis, susceptibility to, 2
600681KCNJ2Atrial fibrillation, familial, 9; Andersen syndrome; Short QT syndrome 3
600734KCNJ5Long QT syndrome 13; Hyperaldosteronism, familial, type III
600877KCNJ6Keppen-Lubinsky syndrome
613655KCNK18Migraine, with or without aura, susceptibility to, 13
603220KCNK3Pulmonary hypertension, primary, 4
605720KCNK4Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
605874KCNK9Birk-Barel syndrome
600150KCNMA1Epilepsy, idiopathic generalized, susceptibility to, 16; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy; Cerebellar atrophy, developmental delay, and seizures; Liang-Wang syndrome
603951KCNMB1Hypertension, diastolic, resistance to
605879KCNN2Dystonia 34, myoclonic; Neurodevelopmental disorder with or without variable movement or behavioral abnormalities
602983KCNN3Zimmermann-Laband syndrome 3
602754KCNN4Dehydrated hereditary stomatocytosis 2
607542KCNQ1Short QT syndrome 2; Atrial fibrillation, familial, 3; Long QT syndrome 1; Long QT syndrome 1, acquired, susceptibility to; Jervell and Lange-Nielsen syndrome
604115KCNQ1OT1Beckwith-Wiedemann syndrome
602235KCNQ2Developmental and epileptic encephalopathy 7; Seizures, benign neonatal, 1; Myokymia
602232KCNQ3Seizures, benign neonatal, 2
603537KCNQ4Deafness 2A
607357KCNQ5Intellectual developmental disorder 46
608167KCNT1Developmental and epileptic encephalopathy 14; Epilepsy nocturnal frontal lobe, 5
610044KCNT2Developmental and epileptic encephalopathy 57
615215KCNU1Spermatogenic failure 79
607604KCNV2Retinal cone dystrophy 3B
613420KCTD1Scalp-ear-nipple syndrome
616386KCTD17Dystonia 26, myoclonic
611725KCTD7Epilepsy, progressive myoclonic 3, with or without intracellular inclusions
609024KDELR2Osteogenesis imperfecta, type XXI
616758KDF1Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
609132KDM1ACleft palate, psychomotor retardation, and distinctive facial features
609373KDM3BDiets-Jongmans syndrome
609765KDM4BIntellectual developmental disorder 65
180202KDM5AEl Hayek-Chahrour neurodevelopmental syndrome
605393KDM5BIntellectual developmental disorder 65
314690KDM5CIntellectual developmental disorder, X-linked syndromic, Claes-Jensen type, X-linked recessive
300128KDM6AKabuki syndrome 2, X-linked dominant
611577KDM6BStolerman neurodevelopmental syndrome
191306KDRHemangioma, capillary infantile, susceptibility to; Hemangioma, capillary infantile, somatic
136440KDSRErythrokeratodermia variabilis et progressiva 4
613883KELBlood group, Kell
603288KERACornea plana 2
611687KHDC3LHydatidiform mole, recurrent, 2
614058KHKFructosuria, essential
610178KIAA0586Short-rib thoracic dysplasia 14 with polydactyly; Joubert syndrome 23
617112KIAA0753Orofaciodigital syndrome XV; Joubert syndrome 38; Short-rib thoracic dysplasia 21 without polydactyly
617266KIAA0825Polydactyly, postaxial, type A10
613344KIAA1549Retinitis pigmentosa 86
615759KIDINS220Spastic paraplegia, intellectual disability, nystagmus, and obesity; Ventriculomegaly and arthrogryposis
148760KIF11Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development
611278KIF12Cholestasis, progressive familial intrahepatic, 8
611279KIF14Microcephaly 20, primary; Meckel syndrome 12
617569KIF15Braddock-Carey syndrome 2
601255KIF1ANESCAV syndrome; Neuropathy, hereditary sensory, type IIC; Spastic paraplegia 30; Spastic paraplegia 30
605995KIF1BNeuroblastoma, susceptibility to, 1, Somatic mutation; Charcot-Marie-Tooth disease, type 2A1
603060KIF1CSpastic ataxia 2
605664KIF20ACardiomyopathy, familial restrictive, 6
608283KIF21AFibrosis of extraocular muscles, congenital, 3B; Fibrosis of extraocular muscles, congenital, 1
603213KIF22Spondyloepimetaphyseal dysplasia with joint laxity, type 2
605064KIF23Anemia, congenital dyserythropoietic, type IIIA
613231KIF26ACortical dysplasia, complex, with other brain malformations 11
602591KIF2ACortical dysplasia, complex, with other brain malformations 3
603754KIF3BRetinitis pigmentosa 89
300521KIF4ATaurodontism, microdontia, and dens invaginatus, X-linked recessive; Intellectual developmental disorder, X-linked 100, X-linked recessive
602821KIF5AMyoclonus, intractable, neonatal; Amyotrophic lateral sclerosis, susceptibility to, 25; Spastic paraplegia 10
604593KIF5CCortical dysplasia, complex, with other brain malformations 2
611254KIF7Joubert syndrome 12; Acrocallosal syndrome; Hydrolethalus syndrome 2; Al-Gazali-Bakalinova syndrome
609367KIFBPGoldberg-Shprintzen megacolon syndrome
607428KIRREL1Nephrotic syndrome, type 23
603286KISS1Hypogonadotropic hypogonadism 13 with or without anosmia
604161KISS1RHypogonadotropic hypogonadism 8 with or without anosmia; Precocious puberty, central, 1
164920KITGastrointestinal stromal tumor, familial, Isolated cases; Mastocytosis, cutaneous; Piebaldism; Germ cell tumors, somatic; Mastocytosis, systemic, somatic; Leukemia, acute myeloid, somatic
184745KITLGHyperpigmentation with or without hypopigmentation; Waardenburg syndrome, type 2F; Deafness 69, unilateral or asymmetric; Skin/hair/eye pigmentation 7, blond/brown hair
615757KIZRetinitis pigmentosa 69
604824KLTumoral calcinosis, hyperphosphatemic, familial, 3
611729KLC2Spastic paraplegia, optic atrophy, and neuropathy
600599KLF1Blood group–Lutheran inhibitor; Hereditary persistence of fetal hemoglobin; Anemia, dyserythropoietic congenital, type IVa; Anemia, congenital dyserythropoietic, type IVb
603301KLF11Maturity-onset diabetes of the young, type VII
602053KLF6Gastric cancer, somatic; Prostate cancer, somatic
613169KLHDC8BHodgkin lymphoma, susceptibility to
608778KLHL10Spermatogenic failure 11
300980KLHL15Intellectual developmental disorder, X-linked 103, X-linked recessive
611295KLHL24Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies; Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy
605775KLHL3Pseudohypoaldosteronism, type IID
615340KLHL40Nemaline myopathy 8
607701KLHL41Nemaline myopathy 9
611119KLHL7Retinitis pigmentosa 42; PERCHING syndrome
147910KLK1Kallikrein, decreased urinary activity of
604434KLK11Ichthyosis with erythrokeratoderma
603767KLK4Amelogenesis imperfecta, type IIA1
229000KLKB1Fletcher factor (prekallikrein) deficiency
612105KLLNCowden syndrome 4
159555KMT2AWiedemann-Steiner syndrome
606834KMT2BIntellectual developmental disorder 68; Dystonia 28, childhood-onset
606833KMT2CKleefstra syndrome 2
602113KMT2DBranchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome; Kabuki syndrome 1
608444KMT2EO’Donnell-Luria-Rodan syndrome
610881KMT5BIntellectual developmental disorder 51
612358KNG1Kininogen deficiency; Angioedema, hereditary, 6; High molecular weight kininogen deficiency
609173KNL1Microcephaly 4, primary
614718KNSTRNRoifman-Chitayat syndrome, digenic, Digenic recessive
606242KONDSKondoh syndrome
601892KPNA3Spastic paraplegia 88
614107KPNA7Oocyte/zygote/embryo maturation arrest 17
615620KPTNIntellectual developmental disorder 41
190070KRASGastric cancer, somatic; Oculoectodermal syndrome, somatic; Breast cancer, somatic; Noonan syndrome 3; RAS-associated autoimmune leukoproliferative disorder; Arteriovenous malformation of the brain, somatic; Lung cancer, somatic; Pancreatic carcinoma, somatic; Leukemia, acute myeloid, somatic; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic; Cardiofaciocutaneous syndrome 2; Bladder cancer, somatic
609898KREMEN1Ectodermal dysplasia 13, hair/tooth type
604214KRIT1Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations; Cerebral cavernous malformations-1; Cavernous malformations of CNS and retina
139350KRT1Ichthyosis, annular epidermolytic 2; Palmoplantar keratoderma, nonepidermolytic; Epidermolytic hyperkeratosis 1; Palmoplantar keratoderma, epidermolytic, 2; Keratosis palmoplantaris striata III; Ichthyosis histrix, Curth-Macklin type
148080KRT10Ichthyosis, annular epidermolytic 1; Epidermolytic hyperkeratosis 2B; Epidermolytic hyperkeratosis 2A; Ichthyosis histrix, Lambert type; Ichthyosis with confetti
601687KRT12Meesmann corneal dystrophy 1
148065KRT13White sponge nevus 2
148066KRT14Epidermolysis bullosa simplex 1D, generalized, intermediate or severe; Epidermolysis bullosa simplex 1C, localized; Dermatopathia pigmentosa reticularis; Epidermolysis bullosa simplex 1A, generalized severe; Naegeli-Franceschetti-Jadassohn syndrome; Epidermolysis bullosa simplex 1B, generalized intermediate
148067KRT16Palmoplantar keratoderma, nonepidermolytic, focal; Pachyonychia congenita 1
148069KRT17Steatocystoma multiplex; Pachyonychia congenita 2
148070KRT18Cirrhosis, cryptogenic; Cirrhosis, noncryptogenic, susceptibility to
600194KRT2Ichthyosis bullosa of Siemens
616646KRT25Woolly hair 3
148043KRT3Meesmann corneal dystrophy 2
123940KRT4White sponge nevus 1
148040KRT5Epidermolysis bullosa simplex 2A, generalized severe; Dowling-Degos disease 1; Epidermolysis bullosa simplex 2F, with mottled pigmentation; Epidermolysis bullosa simplex 2D, generalized, intermediate or severe; Epidermolysis bullosa simplex 2B, generalized intermediate; Epidermolysis bullosa simplex 2C, localized; Epidermolysis bullosa simplex 2E, with migratory circinate erythema
148041KRT6APachyonychia congenita 3
148042KRT6BPachyonychia congenita 4
612315KRT6CPalmoplantar keratoderma, nonepidermolytic, focal or diffuse
608245KRT71Hypotrichosis 13
608248KRT74Woolly hair; Hypotrichosis 3; Ectodermal dysplasia 7, hair/nail type
609025KRT75Pseudofolliculitis barbae, susceptibility to
602153KRT81Monilethrix
602765KRT83Monilethrix; Erythrokeratodermia variabilis et progressiva 5
602767KRT85Ectodermal dysplasia 4, hair/nail type
601928KRT86Monilethrix
607606KRT9Palmoplantar keratoderma, epidermolytic, 1
608932KTCN2Keratoconus 2
608586KTCN3Keratoconus 3
609271KTCN4Keratoconus 4
614622KTCN5Keratoconus 5
614623KTCN6Keratoconus 6
614629KTCN7Keratoconus 7
614628KTCN8Keratoconus 8
149000KTWSKlippel-Trenaunay-Weber syndrome, Isolated cases
605739KYMyopathy, myofibrillar, 7
605197KYNUHydroxykynureninuria; Vertebral, cardiac, renal, and limb defects syndrome 2
610170KYPSC1Kyphoscoliosis 1
308840L1CAMMASA syndrome, X-linked recessive; Hydrocephalus, congenital, X-linked, X-linked recessive; Corpus callosum, partial agenesis of, X-linked recessive
609584L2HGDHL-2-hydroxyglutaric aciduria
613409LACC1Juvenile arthritis
300060LAGE3Galloway-Mowat syndrome 2, X-linked, X-linked recessive
247640LALLLeukemia, acute lymphoblastic
150320LAMA1Poretti-Boltshauser syndrome
156225LAMA2Muscular dystrophy, limb-girdle 23; Muscular dystrophy, congenital, merosin deficient or partially deficient
600805LAMA3Epidermolysis bullosa, junctional 2A, intermediate; Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous; Epidermolysis bullosa, junctional 2B, severe
600133LAMA4Cardiomyopathy, dilated, 1JJ
601033LAMA5Nephrotic syndrome, type 26; Bent bone dysplasia syndrome 2
150240LAMB1Lissencephaly 5
150325LAMB2Nephrotic syndrome, type 5, with or without ocular abnormalities; Pierson syndrome
150310LAMB3Epidermolysis bullosa, junctional 1B, severe; Epidermolysis bullosa, junctional 1A, intermediate; Amelogenesis imperfecta, type IA
150292LAMC2Epidermolysis bullosa, junctional 3B, severe; Epidermolysis bullosa, junctional 3A, intermediate
604349LAMC3Cortical malformations, occipital
309060LAMP2Danon disease, X-linked dominant
610389LAMTOR2Immunodeficiency due to defect in MAPBP-interacting protein
150270LAPLaryngeal adductor paralysis
603590LARGE1Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6
612026LARP7Alazami syndrome
151350LARS1Infantile liver failure syndrome 1
604544LARS2Perrault syndrome 4; Hydrops, lactic acidosis, and sideroblastic anemia
300964LAS1LWilson-Turner syndrome, X-linked recessive
602354LATImmunodeficiency 52
612729LBMQTL1Lean body mass QTL 1
600024LBRPelger-Huet anomaly; Reynolds syndrome; Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly; Greenberg skeletal dysplasia
604255LBX1Central hypoventilation syndrome, congenital, 3
611408LCA5Leber congenital amaurosis 5
606967LCATFish-eye disease; Norum disease
153390LCKImmunodeficiency 22
601603LCP2Immunodeficiency 81
214900LCS1Cholestasis-lymphedema syndrome
603202LCTLactase deficiency, congenital
605906LDB3Left ventricular noncompaction 3; Cardiomyopathy, hypertrophic, 24; Myopathy, myofibrillar, 4; Cardiomyopathy, dilated, 1C, with or without LVNC
150000LDHAGlycogen storage disease XI
150100LDHBLactate dehydrogenase-B deficiency
607490LDHDD-lactic aciduria with susceptibility to gout
606945LDLRLDL cholesterol level QTL2; Hypercholesterolemia, familial, 1
605747LDLRAP1Hypercholesterolemia, familial, 4
616312LEMD2Marbach-Rustad progeroid syndrome; Cataract 46, juvenile-onset
607844LEMD3Buschke-Ollendorff syndrome; Osteopoikilosis with or without melorheostosis
164160LEPObesity, morbid, due to leptin deficiency
601694LEPQTL1Leptin serum levels QTL1
601007LEPRObesity, morbid, due to leptin receptor deficiency
604407LETM1Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction
602576LFNGSpondylocostal dysostosis 3
150571LGALS2Myocardial infarction, susceptibility to
604619LGI1Epilepsy, familial temporal lobe, 1
608302LGI3Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects
608303LGI4Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
613530LGMD1HMuscular dystrophy, limb-girdle, type 1H
606666LGR4Delayed puberty, self-limited; Bone mineral density, low, susceptibility to
152430LGV1Longevity 1
606460LGV2Longevity 2
152780LHBHypogonadotropic hypogonadism 23 with or without anosmia
152790LHCGRLeydig cell adenoma, somatic, with precocious puberty; Leydig cell hypoplasia with pseudohermaphroditism; Leydig cell hypoplasia with hypergonadotropic hypogonadism; Luteinizing hormone resistance, female; Precocious puberty, male
609427LHFPL5Deafness 67
600577LHX3Pituitary hormone deficiency, combined, 3
602146LHX4Pituitary hormone deficiency, combined, 4
607031LIASHyperglycinemia, lactic acidosis, and seizures
151443LIFRStuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome
126391LIG1Immunodeficiency 96
600940LIG3Mitochondrial DNA depletion syndrome 20 (MNGIE type)
601837LIG4LIG4 syndrome; Multiple myeloma, resistance to, Somatic mutation
154045LIM2Cataract 19, multiple types
608364LIMA1Low density lipoprotein cholesterol level QTL 8
607908LIMS2Muscular dystrophy, with cardiomyopathy and triangular tongue
609791LINGO1Intellectual developmental disorder 64
610350LINS1Intellectual developmental disorder 27
613497LIPAWolman disease; Cholesteryl ester storage disease
151670LIPCDiabetes mellitus, noninsulin-dependent; Hepatic lipase deficiency; High density lipoprotein cholesterol level QTL 12
151750LIPELipodystrophy, familial partial, type 6
607365LIPHHypotrichosis 7; Woolly hair 2 with or without hypotrichosis
613924LIPNIchthyosis, congenital 8
610284LIPT1Lipoyltransferase 1 deficiency
617659LIPT2Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
603795LITAFCharcot-Marie-Tooth disease, type 1C
601567LMAN1Combined factor V and VIII deficiency
609552LMAN2LIntellectual developmental disorder 69; Intellectual developmental disorder 52
605522LMBR1Syndactyly, type IV; Laurin-Sandrow syndrome; Acheiropody; Triphalangeal thumb-polysyndactyly syndrome
612625LMBRD1Methylmalonic aciduria and homocystinuria, cblF type
619490LMBRD2Developmental delay with variable neurologic and brain abnormalities
611761LMF1Lipase deficiency, combined
150330LMNAMandibuloacral dysplasia; Heart-hand syndrome, Slovenian type; Cardiomyopathy, dilated, 1A; Emery-Dreifuss muscular dystrophy 3; Restrictive dermopathy 2; Charcot-Marie-Tooth disease, type 2B1; Emery-Dreifuss muscular dystrophy 2; Hutchinson-Gilford progeria; Lipodystrophy, familial partial, type 2; Muscular dystrophy, congenital; Malouf syndrome
150340LMNB1Leukodystrophy, adult-onset; Microcephaly 26, primary
150341LMNB2Microcephaly 27, primary; Epilepsy, progressive myoclonic, 9; Lipodystrophy, partial, acquired, susceptibility to
186921LMO1Leukemia, T-cell acute lymphoblastic
180385LMO2Leukemia, acute T-cell
602715LMOD1Megacystis-microcolon-intestinal hypoperistalsis syndrome 3
608006LMOD2Cardiomyopathy, dilated, 2G
616112LMOD3Nemaline myopathy 10
611944LMPH1BLymphatic malformation 2
600298LMX1ADeafness 7
602575LMX1BFocal segmental glomerulosclerosis 10; Nail-patella syndrome
608935LNCR1Lung cancer susceptibility
612571LNCR3Lung cancer susceptibility 3
612593LNCR4Lung cancer susceptibility 4
614210LNCR5Lung cancer susceptibility 5
610236LNPKNeurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
605490LONP1CODAS syndrome
152445LORICRINVohwinkel syndrome with ichthyosis
153455LOXAortic aneurysm, familial thoracic 10
613072LOXHD1Deafness 77
153456LOXL1Exfoliation syndrome, susceptibility to
607163LOXL3Myopia 28
152200LPALPA deficiency, congenital; Coronary artery disease, susceptibility to
609239LPAR6Hypotrichosis 8; Woolly hair 1, with or without hypotrichosis
605518LPIN1Myoglobinuria, acute recurrent
605519LPIN2Majeed syndrome
609708LPLLipoprotein lipase deficiency; High density lipoprotein cholesterol level QTL 11; Combined hyperlipidemia, familial
600700LPPLipoma; Leukemia, acute myeloid, Somatic mutation
609888LPRSLeprosy, paucibacillary type, susceptibility to
613407LPRS6Leprosy, susceptibility to, 6
604863LRATLeber congenital amaurosis 14; Retinal dystrophy, early-onset severe; Retinitis pigmentosa, juvenile
606453LRBAImmunodeficiency, common variable, 8, with autoimmunity
615354LRIF1Facioscapulohumeral muscular dystrophy 3, digenic, Digenic recessive
608869LRIG2Urofacial syndrome 2
615004LRIT3Night blindness, congenital stationary (complete), 1F
614537LRMDAAlbinism, oculocutaneous, type VII
107770LRP1Keratosis pilaris atrophicans; Developmental dysplasia of the hip 3
618299LRP12Oculopharyngodistal myopathy 1; Amyotrophic lateral sclerosis 28
600073LRP2Donnai-Barrow syndrome
604270LRP4Myasthenic syndrome, congenital, 17; Sclerosteosis 2; Cenani-Lenz syndactyly syndrome
603506LRP5Osteopetrosis 1; Bone mineral density variability 1; Polycystic liver disease 4 with or without kidney cysts; Endosteal hyperostosis; Osteoporosis-pseudoglioma syndrome; Exudative vitreoretinopathy 4
603507LRP6Coronary artery disease, 2; Tooth agenesis, selective, 7
602600LRP8Myocardial infarction, susceptibility to
104225LRPAP1Myopia 23
607544LRPPRCMitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)
620708LRRC23Spermatogenic failure 92
137207LRRC32Cleft palate, proliferative retinopathy, and developmental delay
618227LRRC56Ciliary dyskinesia, primary, 39
608360LRRC8AAgammaglobulinemia 5
610986LRRK1Osteosclerotic metaphyseal dysplasia
609007LRRK2Parkinson disease 8
610933LRSAM1Charcot-Marie-Tooth disease, axonal, type 2P
608545LRSLLarsen-like syndrome, Isolated cases
612414LRTOMTDeafness 63
617910LSM11Aicardi-Goutieres syndrome 8
600909LSSHypotrichosis 14; Cataract 44; Alopecia-intellectual disability syndrome 4
153440LTAPsoriatic arthritis, susceptibility to; Myocardial infarction, susceptibility to; Leprosy, susceptibility to, 4
150390LTBP1Cutis laxa, type IIE
602091LTBP2Glaucoma 3, primary congenital, D; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma; Weill-Marchesani syndrome 3, recessive
602090LTBP3Dental anomalies and short stature; Geleophysic dysplasia 3
604710LTBP4Cutis laxa, type IC
246530LTC4SLeukotriene C4 synthase deficiency
620074LTV1Inflammatory poikiloderma with hair abnormalities and acral keratoses
609470LVNC2Left ventricular noncompaction 2
151440LYL1Leukemia, T-cell acute lymphoblastoid
165120LYNAutoinflammatory disease, systemic, with vasculitis
613311LYRM4Combined oxidative phosphorylation deficiency 19
615831LYRM7Mitochondrial complex III deficiency, nuclear type 8
619332LYSETDysostosis multiplex, Ain-Naz type
606897LYSTChediak-Higashi syndrome
153450LYZAmyloidosis, hereditary systemic 5
606568LZTFL1Bardet-Biedl syndrome 17
600574LZTR1Noonan syndrome 2; Noonan syndrome 10; Schwannomatosis-2, susceptibility to
606551LZTS1Esophageal squamous cell carcinoma, somatic
619098M1APSpermatogenic failure 48
601280MAB21L1Cerebellar, ocular, craniofacial, and genital syndrome
604357MAB21L2Microphthalmia/coloboma and skeletal dysplasia syndrome
608271MACF1Lissencephaly 9 with complex brainstem malformation
613545MACSTMacrostomia
602686MAD1L1Prostate cancer, somatic; Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition; Lymphoma, B-cell, somatic
604094MAD2L2Fanconi anemia, complementation group V
603584MADDNeurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia; DEEAH syndrome
177075MAFCataract 21, multiple types; Ayme-Gripp syndrome
610303MAFAInsulinomatosis and diabetes mellitus
608968MAFBDuane retraction syndrome 3; Multicentric carpotarsal osteolysis syndrome
125480MAFD1Major affective disorder 1
309200MAFD2Major affective disorder 2, X-linked dominant
609633MAFD3Major affective disorder 3, early onset
611247MAFD4Major affective disorder 4
611535MAFD5Major affective disorder 5
611536MAFD6Major affective disorder 6
612357MAFD8Major affective disorder-8, susceptibility to
612372MAFD9Major affective disorder-9, susceptibility to
159460MAGSpastic paraplegia 75
300470MAGED2Bartter syndrome, type 5, antenatal, transient, X-linked recessive
605283MAGEL2Schaaf-Yang syndrome
606382MAGI2Nephrotic syndrome, type 15
300715MAGT1Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked recessive; Congenital disorder of glycosylation, type Icc, X-linked recessive
154235MAKRetinitis pigmentosa 62
188860MALLeukodystrophy, hypomyelinating, 28
604860MALT1Immunodeficiency 12
607537MAML2Mucoepidermoid salivary gland carcinoma
300120MAMLD1Hypospadias 2, X-linked, X-linked recessive
604346MAN1B1Rafiq syndrome
609458MAN2B1Mannosidosis, alpha-, types I and II
154580MAN2C1Congenital disorder of deglycosylation 2
609489MANBAMannosidosis, beta
601916MANFDiabetes, deafness, developmental delay, and short stature syndrome
309850MAOABrunner syndrome, X-linked recessive
157129MAP1BDeafness 83; Periventricular nodular heterotopia 9
176872MAP2K1Cardiofaciocutaneous syndrome 3; Melorheostosis, isolated, somatic mosaic
601263MAP2K2Cardiofaciocutaneous syndrome 4
600982MAP3K146XY sex reversal 6
604655MAP3K14Immunodeficiency 112
609479MAP3K20Centronuclear myopathy 6 with fiber-type disproportion; Split-foot malformation with mesoaxial polydactyly
602614MAP3K7Frontometaphyseal dysplasia 2; Cardiospondylocarpofacial syndrome
191195MAP3K8Lung cancer, somatic
176948MAPK1Noonan syndrome 13
604641MAPK8IP1Diabetes mellitus, noninsulin-dependent
605431MAPK8IP3Neurodevelopmental disorder with or without variable brain abnormalities
602130MAPKAPK3Macular dystrophy, patterned, 3
606723MAPKAPK5Neurocardiofaciodigital syndrome
616786MAPKBP1Nephronophthisis 20
605789MAPRE2Symmetric circumferential skin creases, congenital, 2
157140MAPTSupranuclear palsy, progressive; Frontotemporal dementia 1, with or without parkinsonism; Supranuclear palsy, progressive atypical; Parkinson disease, susceptibility to, Multifactorial; Pick disease
613297MARCHF6Epilepsy, familial adult myoclonic, 3
602678MARK3Visual impairment and progressive phthisis bulbi
156560MARS1Spastic paraplegia 70; Interstitial lung and liver disease; Trichothiodystrophy 9, nonphotosensitive; Charcot-Marie-Tooth disease, axonal, type 2U
609728MARS2Combined oxidative phosphorylation deficiency 25; Spastic ataxia 3
610572MARVELD2Deafness 49
600521MASP13MC syndrome 1
605102MASP2MASP2 deficiency
612256MAST1Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
612258MAST3Developmental and epileptic encephalopathy 108
610550MAT1AHypermethioninemia, persistent, due to methionine adenosyltransferase I/III deficiency; Methionine adenosyltransferase deficiency
602109MATN3Osteoarthritis susceptibility 2; Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type; Epiphyseal dysplasia, multiple, 5
164015MATR3Amyotrophic lateral sclerosis 21
154950MAXPolydactyly-macrocephaly syndrome; Pheochromocytoma, susceptibility to
160000MBMyopathy, sarcoplasmic body
603574MBD4Uveal melanoma, susceptibility to, 1; Tumor predisposition syndrome 2
611472MBD5Intellectual developmental disorder 1
154545MBL2Chronic infections, due to MBL deficiency
614692MBNPMembranous nephropathy, susceptibility to
606048MBOAT7Intellectual developmental disorder 57
157900MBS1Moebius syndrome, Isolated cases
601471MBS2Facial paresis, hereditary congenital, 1
604185MBS3Facial paresis, hereditary congenital, 2
603355MBTPS1Spondyloepiphyseal dysplasia, Kondo-Fu type
300294MBTPS2Keratosis follicularis spinulosa decalvans, X-linked, X-linked recessive; Osteogenesis imperfecta, type XIX, X-linked recessive; IFAP syndrome with or without BRESHECK syndrome, X-linked recessive; Olmsted syndrome, X-linked, X-linked recessive
155555MC1RAnalgesia from kappa-opioid receptor agonist, female-specific; Skin/hair/eye pigmentation 2, red hair/fair skin; Skin/hair/eye pigmentation 2, blond hair/fair skin; Melanoma, cutaneous malignant, 5; Albinism, oculocutaneous, type II, modifier of; UV-induced skin damage
607397MC2RGlucocorticoid deficiency, due to ACTH unresponsiveness
155540MC3RObesity, severe, susceptibility to, BMIQ9
155541MC4RObesity (BMIQ20); Obesity, resistance to (BMIQ20)
614479MCATOptic atrophy 15
159350MCCColorectal cancer, somatic
609010MCCC13-Methylcrotonyl-CoA carboxylase 1 deficiency
609014MCCC23-Methylcrotonyl-CoA carboxylase 2 deficiency
608419MCEEMethylmalonyl-CoA epimerase deficiency
607788MCFD2Factor V and factor VIII, combined deficiency of
608557MCI2Myocardial infarction, susceptibility to, 2
614086MCIDASCiliary dyskinesia, primary, 42
609357MCM10Immunodeficiency 80 with or without cardiomyopathy
116945MCM2Deafness 70
603294MCM3APPeripheral neuropathy, with or without impaired intellectual development
602638MCM4Immunodeficiency 54
602696MCM5Meier-Gorlin syndrome 8
601806MCM6Lactase persistence/nonpersistence
608187MCM8Premature ovarian failure 10
610098MCM9Ovarian dysgenesis 4
605248MCOLN1Lisch epithelial corneal dystrophy; Mucolipidosis IV
251600MCOP1Microphthalmia, isolated 1
300345MCOPCB1Microphthalmia with coloboma 1
605738MCOPCB2Microphthalmia/coloboma 2
156850MCOPCT1Microphthalmia with cataract 1
607117MCPH1Microcephaly 1, primary
300587MCTS1Immunodeficiency 118, mycobacteriosis, X-linked recessive
604801MDC1BMuscular dystrophy, congenital, 1B
608520MDD1Major depressive disorder 1
608691MDD2Major depressive disorder 2
614511MDFICLymphatic malformation 12
154200MDH1Developmental and epileptic encephalopathy 88
154100MDH2Developmental and epileptic encephalopathy 51
164785MDM2Accelerated tumor formation, susceptibility to; Lessel-Kubisch syndrome
602704MDM4Bone marrow failure syndrome 6
613689MDNSMammary-digital-nail syndrome
165215MECOMRadioulnar synostosis with amegakaryocytic thrombocytopenia 2
300005MECP2Rett syndrome, atypical, X-linked dominant; Encephalopathy, neonatal severe, X-linked recessive; Intellectual developmental disorder, X-linked syndromic, Lubs type, X-linked recessive; Autism susceptibility, X-linked 3, X-linked; Intellectual developmental disorder, X-linked syndromic 13, X-linked recessive; Rett syndrome, X-linked dominant; Rett syndrome, preserved speech variant, X-linked dominant
608205MECRDystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; Optic atrophy 16
612383MED11Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
300188MED12Lujan-Fryns syndrome, X-linked recessive; Ohdo syndrome, X-linked, X-linked recessive; Hardikar syndrome, X-linked dominant; Opitz-Kaveggia syndrome, X-linked recessive
611318MED12LNizon-Isidor syndrome
603808MED13Intellectual developmental disorder 61
608771MED13LImpaired intellectual development and distinctive facial features with or without cardiac defects
603810MED17Microcephaly, postnatal progressive, with seizures and brain atrophy
605042MED23Intellectual developmental disorder 18, with or without epilepsy
610197MED25Basel-Vanagait-Smirin-Yosef syndrome
605044MED27Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
600660MEF2ACoronary artery disease, 1
600662MEF2CChromosome 5q14.3 deletion syndrome; Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
608107MEFVNeutrophilic dermatosis, acute febrile; Familial Mediterranean fever, AR; Familial Mediterranean fever, AD
612453MEGF10Congenital myopathy 10A, severe variant; Congenital myopathy 10B, mild variant
604267MEGF8Carpenter syndrome 2
608797MEI1Hydatidiform mole, recurrent, 3
617670MEIOBPremature ovarian failure 23; Spermatogenic failure 22
601740MEIS2Cleft palate, cardiac defects, and impaired intellectual development
613733MEN1Lipoma, somatic; Angiofibroma, somatic; Multiple endocrine neoplasia 1; Carcinoid tumor of lung; Adrenal adenoma, somatic; Parathyroid adenoma, somatic
610873MENAQ1Menarche, age at, QTL
612882MENAQ2Menarche, age at, QTL2
612883MENAQ3Menarche, age at, QTL3
300488MENOQ1Menopause, natural, age at, QTL1, X-linked dominant
612884MENOQ2Menopause, natural, age at, QTL2
612886MENOQ4Menopause, natural, age at, QTL4
600147MEOX1Klippel-Feil syndrome 2
604705MERTKRetinitis pigmentosa 38
607783MESDOsteogenesis imperfecta, type XX
605195MESP2Spondylocostal dysostosis 2
164860METRenal cell carcinoma, papillary, 1, familial and somatic; Arthrogryposis, distal, type 11; Hepatocellular carcinoma, childhood type, somatic; Osteofibrous dysplasia, susceptibility to; Deafness 97
617987METTL13Deafness 26, modifier of
615262METTL23Intellectual developmental disorder 44
618628METTL5Intellectual developmental disorder 72
601103MFAP5Aortic aneurysm, familial thoracic 9
614785MFFEncephalopathy due to defective mitochondrial and peroxisomal fission 2
605352MFHAS1Malignant fibrous histiocytoma
608507MFN2Lipomatosis, multiple symmetric, with or without peripheral neuropathy; Charcot-Marie-Tooth disease, axonal, type 2A2A; Charcot-Marie-Tooth disease, axonal, type 2A2B; Hereditary motor and sensory neuropathy VIA
606227MFRPMicrophthalmia, isolated 5; Nanophthalmos 2
614397MFSD2ANeurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities
611124MFSD8Macular dystrophy with central cone involvement; Ceroid lipofuscinosis, neuronal, 7
612099MFT2Trichoepithelioma, multiple familial, 2
602616MGAT2Congenital disorder of glycosylation, type IIa
615076MGME1Mitochondrial DNA depletion syndrome 11
154870MGPKeutel syndrome
157300MGR1Migraine with or without aura, susceptibility to, 1
610208MGR10Migraine with or without aura, susceptibility to, 10
610209MGR11Migraine with or without aura, susceptibility to, 11
611706MGR12Migraine, with or without aura, susceptibility to, 12
300125MGR2Migraine, familial typical, susceptibility to, 2, X-linked
607498MGR3Migraine with or without aura, susceptibility to, 3
607501MGR4Migraine without aura, susceptibility to, 4
607508MGR5Migraine with or without aura, susceptibility to, 5
607516MGR6Migraine with or without aura, susceptibility to, 6; Migraine, familial hemiplegic, 4
609179MGR7Migraine with aura, susceptibility to, 7
609570MGR8Migraine, susceptibility to, 8
609670MGR9Migraine with aura, susceptibility to, 9
154275MHS2Malignant hyperthermia susceptibility 2
154276MHS3Malignant hyperthermia susceptibility 3
600467MHS4Malignant hyperthermia susceptibility 4
601888MHS6Malignant hyperthermia susceptibility 6
603663MHW1Mental health wellness-1
603664MHW2Mental health wellness-2
613455MIA3Ondontochondrodysplasia 2 with hearing loss and diabetes
611082MIATMyocardial infarction, susceptibility to
608677MIB1Left ventricular noncompaction 7
616658MICOS13Combined oxidative phosphorylation deficiency 37
605084MICU1Myopathy with extrapyramidal signs
300552MID1Opitz GBBB syndrome, X-linked recessive
300204MID2Intellectual developmental disorder, X-linked 101, X-linked recessive
615497MIEF1Optic atrophy 14
615498MIEF2Combined oxidative phosphorylation deficiency 49
153620MIFRheumatoid arthritis, systemic juvenile, susceptibility to
620215MINAR2Deafness 120
605391MINPP1Thyroid carcinoma, follicular, Somatic mutation; Pontocerebellar hypoplasia, type 16
154050MIPCataract 15, multiple types
602241MIPEPCombined oxidative phosphorylation deficiency 31
611894MIR140Spondyloepiphyseal dysplasia, Nishimura type
613146MIR184EDICT syndrome
610942MIR204Retinal dystrophy and iris coloboma with or without cataract
613405MIR2861Bone mineral density QTL 15
611606MIR96Deafness 50
156845MITFWaardenburg syndrome, type 2A; Melanoma, cutaneous malignant, susceptibility to, 8; Tietz albinism-deafness syndrome; COMMAD syndrome
604896MKKSMcKusick-Kaufman syndrome; Bardet-Biedl syndrome 6
603856MKRN3Precocious puberty, central, 2
609883MKS1Bardet-Biedl syndrome 13; Meckel syndrome 1; Joubert syndrome 28
605908MLC1Megalencephalic leukoencephalopathy with subcortical cysts 1
120436MLH1Lynch syndrome 2; Muir-Torre syndrome; Mismatch repair cancer syndrome 1
604395MLH3Endometrial cancer, susceptibility to, Somatic mutation; Colorectal cancer, somatic; Colorectal cancer, hereditary nonpolyposis, type 7
614106MLIPMyopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
602409MLLT10Leukemia, acute myeloid, Somatic mutation
606526MLPHGriscelli syndrome, type 3
606761MLYCDMalonyl-CoA decarboxylase deficiency
607481MMAAMethylmalonic aciduria, vitamin B12-responsive, cblA type
607568MMABMethylmalonic aciduria, vitamin B12-responsive, cblB type
609831MMACHCMethylmalonic aciduria and homocystinuria, cblC type
611935MMADHCMethylmalonic aciduria and homocystinuria, cblD type; Methylmalonic aciduria, cblD type; Homocystinuria-megaloblastic anemia, cblD type
613318MMD2Miyoshi muscular dystrophy 2
120520MMESpinocerebellar ataxia 43; Charcot-Marie-Tooth disease, axonal, type 2T
600108MMP13Spondyloepimetaphyseal dysplasia, Missouri type; Metaphyseal anadysplasia 1; Metaphyseal dysplasia, Spahr type
600754MMP14Winchester syndrome
601807MMP19Cavitary optic disc anomalies
120360MMP2Multicentric osteolysis, nodulosis, and arthropathy
604629MMP20Amelogenesis imperfecta, type IIA2
608416MMP21Heterotaxy, visceral, 7, autosomal
185250MMP3Coronary heart disease, susceptibility to, 6
120361MMP9Metaphyseal anadysplasia 2
609058MMUTMethylmalonic aciduria, mut(0) type
157700MMVP1Mitral valve prolapse, myxomatous 1
156100MN1CEBALID syndrome; Meningioma
611863MNDECMicrotia with nasolacrimal duct imperforation and eye coloboma
300273MNG2Goiter, multinodular, 2, X-linked dominant
606082MNG3Goiter, multinodular, 3
606190MNRIMeningioma, radiation-induced
610766MNS1Heterotaxy, visceral, 9, autosomal, with male infertility
142994MNX1Currarino syndrome
613274MOCOSXanthinuria, type II
603707MOCS1Molybdenum cofactor deficiency A
603708MOCS2Molybdenum cofactor deficiency B
159465MOGNarcolepsy 7
601336MOGSCongenital disorder of glycosylation, type IIb
616661MORC2Charcot-Marie-Tooth disease, axonal, type 2Z; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
190060MOSOocyte/zygote/embryo maturation arrest 20
605794MOV10L1Spermatogenic failure 73
614738MPC1Mitochondrial pyruvate carrier deficiency
604041MPDU1Congenital disorder of glycosylation, type If
603785MPDZHydrocephalus, congenital, 2, with or without brain or eye anomalies
610390MPEG1Immunodeficiency 77
154550MPICongenital disorder of glycosylation, type Ib
606520MPIG6BThrombocytopenia, anemia, and myelofibrosis
159530MPLMyelofibrosis with myeloid metaplasia, somatic; Amegakaryocytic thrombocytopenia, congenital, 1; Thrombocythemia 2, Somatic mutation
609188MPLKIPTrichothiodystrophy 4, nonphotosensitive
606989MPOAlzheimer disease, susceptibility to; Myeloperoxidase deficiency; Lung cancer, protection against, in smokers
137960MPV17Charcot-Marie-Tooth disease, axonal, type 2EE; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
612573MPVQTL1Mean platelet volume QTL1
612574MPVQTL2Mean platelet volume QTL2
612575MPVQTL3Mean platelet volume QTL3
614644MPVQTL4Mean platelet volume QTL4
614645MPVQTL5Mean platelet volume QTL5
614646MPVQTL6Mean platelet volume QTL6
159440MPZCharcot-Marie-Tooth disease, type 2I; Dejerine-Sottas disease; Charcot-Marie-Tooth disease, type 1B; Roussy-Levy syndrome; Charcot-Marie-Tooth disease, dominant intermediate D; Hypomyelinating neuropathy, congenital, 2; Charcot-Marie-Tooth disease, type 2J
604873MPZL2Deafness 111
609196MRAPGlucocorticoid deficiency 2
615410MRAP2Obesity, susceptibility to, BMIQ18
608435MRASNoonan syndrome 11
612581MRD4Intellectual developmental disorder 4
600814MRE11Ataxia-telangiectasia-like disorder 1
606906MRM2Mitochondrial DNA depletion syndrome 17
155900MROSMelkersson-Rosenthal syndrome
602375MRPL12Combined oxidative phosphorylation deficiency 45
607118MRPL3Combined oxidative phosphorylation deficiency 9
611845MRPL39Combined oxidative phosphorylation deficiency 59
611849MRPL44Combined oxidative phosphorylation deficiency 16
611978MRPS14Combined oxidative phosphorylation deficiency 38
609204MRPS16Combined oxidative phosphorylation deficiency 2
611971MRPS2Combined oxidative phosphorylation deficiency 36
605810MRPS22Ovarian dysgenesis 7; Combined oxidative phosphorylation deficiency 5
611985MRPS23Combined oxidative phosphorylation deficiency 46
611987MRPS25Combined oxidative phosphorylation deficiency 50
611990MRPS28Combined oxidative phosphorylation deficiency 47
611994MRPS34Combined oxidative phosphorylation deficiency 32
611974MRPS7Combined oxidative phosphorylation deficiency 34
309620MRSDIntellectual developmental disorder, X-linked, with skeletal dysplasia and abducens palsy, X-linked
602685MRSTImpaired intellectual development with spasticity and tapetoretinal degeneration
611096MRT10Intellectual developmental disorder 10/20
611097MRT11Intellectual developmental disorder 11
614208MRT16Intellectual developmental disorder 16
614343MRT19Intellectual developmental disorder 19
614344MRT23Intellectual developmental disorder 23
614345MRT24Intellectual developmental disorder 24
614346MRT25Intellectual developmental disorder 25
614347MRT28Intellectual developmental disorder 28
614333MRT29Intellectual developmental disorder 29
614342MRT30Intellectual developmental disorder 30
614329MRT31Intellectual developmental disorder 31
614341MRT33Intellectual developmental disorder 33
615162MRT35Intellectual developmental disorder 35
611107MRT4Intellectual developmental disorder 4
611095MRT9Intellectual developmental disorder 9/26
606078MRTFAImmunodeficiency 66
300062MRX14Intellectual developmental disorder, X-linked 14, X-linked
300047MRX20Intellectual developmental disorder, X-linked 20, X-linked
300046MRX23Intellectual developmental disorder, X-linked 23, X-linked
300372MRX42Intellectual developmental disorder, X-linked 42
300324MRX53Intellectual developmental disorder, X-linked 53, X-linked recessive
300355MRX73Intellectual developmental disorder, X-linked 73, X-linked recessive
300454MRX77Intellectual developmental disorder, X-linked 77, X-linked recessive
300433MRX81Intellectual developmental disorder, X-linked 81, X-linked recessive
300518MRX82Intellectual developmental disorder, X-linked 82, X-linked recessive
300505MRX84Intellectual developmental disorder, X-linked 84, X-linked recessive
300852MRX88Intellectual developmental disorder, X-linked 88, X-linked
300851MRX92Intellectual developmental disorder, X-linked 92, X-linked recessive
300716MRX95Intellectual developmental disorder, X-linked 95, X-linked dominant
309545MRXS12Intellectual developmental disorder, X-linked syndromic 12, X-linked
300858MRXS17Intellectual developmental disorder, X-linked syndromic 17, X-linked recessive
300886MRXS32Intellectual developmental disorder, X-linked, syndromic 32, X-linked recessive
300218MRXS7Intellectual developmental disorder, X-linked syndromic 7, X-linked
300262MRXSABIntellectual developmental disorder, X-linked syndromic, Abidi type, X-linked
300861MRXSCSIntellectual developmental disorder, X-linked syndromic, Chudley-Schwartz type, X-linked recessive
300519MRXSMPMartin-Probst syndrome, X-linked recessive
612594MS2Multiple sclerosis, susceptibility to, 2
612595MS3Multiple sclerosis, susceptibility to, 3
612596MS4Multiple sclerosis, susceptibility to, 4
112210MS4A1Immunodeficiency, common variable, 5
609309MSH2Lynch syndrome 1; Muir-Torre syndrome; Mismatch repair cancer syndrome 2
600887MSH3Familial adenomatous polyposis 4; Endometrial carcinoma, somatic
602105MSH4Premature ovarian failure 20; Spermatogenic failure 2
603382MSH5Premature ovarian failure 13; Spermatogenic failure 74
600678MSH6Lynch syndrome 5; Mismatch repair cancer syndrome 3; Endometrial cancer, familial, Somatic mutation
300609MSL3Basilicata-Akhtar syndrome, X-linked dominant
157145MSMBProstate cancer, hereditary, 13
607545MSMO1Microcephaly, congenital cataract, and psoriasiform dermatitis
309845MSNImmunodeficiency 50, X-linked recessive
153622MSR1Barrett esophagus/esophageal adenocarcinoma
613719MSRB3Deafness 74
600168MST1RNasopharyngeal carcinoma, susceptibility to, 3
601788MSTNMuscle hypertrophy
617619MSTO1Myopathy, mitochondrial, and ataxia
142983MSX1Tooth agenesis, selective, 1, with or without orofacial cleft; Ectodermal dysplasia 3, Witkop type; Orofacial cleft 5
123101MSX2Parietal foramina with cleidocranial dysplasia; Craniosynostosis 2; Parietal foramina 1
156540MTAPDiaphyseal medullary stenosis with malignant fibrous histiocytoma
607949MTBS1Tuberculosis, susceptibility to
611046MTBS2Mycobacterium tuberculosis, susceptibility to, 2
612929MTBS3Mycobacterium tuberculosis, susceptibility to, 3
300259MTBSXMycobacterium tuberculosis, susceptibility, X-linked
611766MTFMTCombined oxidative phosphorylation deficiency 15; Mitochondrial complex I deficiency, nuclear type 27
172460MTHFD1Neural tube defects, folate-sensitive, susceptibility to; Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
607093MTHFRVascular disease, susceptibility to; Homocystinuria due to MTHFR deficiency; Thromboembolism, susceptibility to; Schizophrenia, susceptibility to; Neural tube defects, susceptibility to
604197MTHFSNeurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
300415MTM1Myopathy, centronuclear, X-linked, X-linked recessive
611089MTMR14Centronuclear myopathy, autosomal, modifier of
603557MTMR2Charcot-Marie-Tooth disease, type 4B1
600804MTNR1BDiabetes mellitus, type 2, susceptibility to
614667MTO1Combined oxidative phosphorylation deficiency 10
601231MTORFocal cortical dysplasia, type II, somatic; Smith-Kingsmore syndrome
613669MTPAPSpastic ataxia 4
156570MTRNeural tube defects, folate-sensitive, susceptibility to; Homocystinuria-megaloblastic anemia, cblG complementation type
613541MTRFRSpastic paraplegia 55; Combined oxidative phosphorylation deficiency 7
602568MTRRHomocystinuria-megaloblastic anemia, cbl E type; Neural tube defects, folate-sensitive, susceptibility to
616951MTSS2Intellectual developmental disorder with ocular anomalies and distinctive facial features
157147MTTPAbetalipoproteinemia
608555MTX2Mandibuloacral dysplasia progeroid syndrome
158340MUC1Tubulointerstitial kidney disease, 2
600770MUC5BPulmonary fibrosis, idiopathic, susceptibility to
158375MUC7Asthma, protection against
601296MUSKFetal akinesia deformation sequence 1; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency
612343MUSQTL1Musical aptitude QTL 1
612083MUSTQTL1Muscle strength quantitative trait locus 1
604933MUTYHAdenomas, multiple colorectal; Gastric cancer, somatic
612635MVCD7Microvascular complications of diabetes, susceptibility to, 7
603236MVDPorokeratosis 7, multiple types
251170MVKHyper-IgD syndrome; Porokeratosis 3, multiple types; Mevalonic aciduria
600020MXI1Prostate cancer, somatic; Neurofibrosarcoma, somatic
607085MYAS1Myasthenia gravis with thymus hyperplasia
189990MYBT-cell acute lymphoblastic leukemia
160794MYBPC1Congenital myopathy 16; Lethal congenital contracture syndrome 4; Arthrogryposis, distal, type 1B
600958MYBPC3Cardiomyopathy, hypertrophic, 4; Cardiomyopathy, dilated, 1MM; Left ventricular noncompaction 10
190080MYCBurkitt lymphoma, somatic
164840MYCNFeingold syndrome 1; Megalencephaly-polydactyly syndrome
602170MYD88Macroglobulinemia, Waldenstrom, somatic; Immunodeficiency 68
159990MYF5Ophthalmoplegia, external, with rib and vertebral anomalies
160745MYH11Megacystis-microcolon-intestinal hypoperistalsis syndrome 2; Aortic aneurysm, familial thoracic 4; Visceral myopathy 2
608568MYH14Peripheral neuropathy, myopathy, hoarseness, and hearing loss; Deafness 4A
160740MYH2Congenital myopathy 6 with ophthalmoplegia
160720MYH3Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B; Arthrogryposis, distal, type 2B3 (Sheldon-Hall); Arthrogryposis, distal, type 2A (Freeman-Sheldon)
160710MYH6Sick sinus syndrome 3; Atrial septal defect 3; Cardiomyopathy, dilated, 1EE; Cardiomyopathy, hypertrophic, 14
160760MYH7Laing distal myopathy; Cardiomyopathy, hypertrophic, 1, Digenic dominant; Left ventricular noncompaction 5; Cardiomyopathy, dilated, 1S; Congenital myopathy 7B, myosin storage; Congenital myopathy 7A, myosin storage
160741MYH8Carney complex variant; Trismus-pseudocamptodactyly syndrome
160775MYH9Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Deafness 17
160780MYL1Congenital myopathy 14
617378MYL11Arthrogryposis, distal, type 1C
160781MYL2Cardiomyopathy, hypertrophic, 10; Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
160790MYL3Cardiomyopathy, hypertrophic, 8
160770MYL4Atrial fibrillation, familial, 18
609905MYL9Megacystis-microcolon-intestinal hypoperistalsis syndrome 4
600922MYLKMegacystis-microcolon-intestinal hypoperistalsis syndrome 1; Aortic aneurysm, familial thoracic 7
606566MYLK2Cardiomyopathy, hypertrophic, 1, digenic, Digenic dominant
615345MYMKCarey-Fineman-Ziter syndrome
619912MYMXCarey-Fineman-Ziter syndrome 2
252350MYMY1Moyamoya disease
608796MYMY3Moyamoya disease 3
602666MYO15ADeafness 3
607295MYO18BKlippel-Feil syndrome 4, with myopathy and facial dysmorphism
601479MYO1EGlomerulosclerosis, focal segmental, 6
614636MYO1HCentral hypoventilation syndrome, congenital, 2, and autonomic dysfunction
606808MYO3ADeafness 30; Deafness 90
160777MYO5AGriscelli syndrome, type 1
606540MYO5BDiarrhea 2, with microvillus atrophy, with or without cholestasis; Cholestasis, progressive familial intrahepatic, 10
600970MYO6Deafness 22, with hypertrophic cardiomyopathy; Deafness 22; Deafness 37
276903MYO7ADeafness 2; Usher syndrome, type 1B; Deafness 11
604875MYO9AMyasthenic syndrome, congenital, 24, presynaptic
601652MYOCGlaucoma 1A, primary open angle
606127MYOCDMegabladder, congenital
159970MYOD1Congenital myopathy 17
604603MYOFAngioedema, hereditary, 7
618255MYORGBasal ganglia calcification, idiopathic, 7
604103MYOTMyopathy, myofibrillar, 3
605602MYOZ2Cardiomyopathy, hypertrophic, 16
310460MYP1Myopia-1, X-linked recessive
609259MYP10Myopia 10, Multifactorial
609994MYP11Myopia 11
609995MYP12Myopia 12
300613MYP13Myopia 13
610320MYP14Myopia 14
612717MYP15Myopia 15
612554MYP16Myopia 16
608367MYP17Myopia 17
255500MYP18Myopia 18
613969MYP19Myopia 19
160700MYP2Myopia 2
614166MYP20Myopia 20
603221MYP3Myopia-3
608474MYP5Myopia 5
609256MYP7Myopia 7, Multifactorial
609257MYP8Myopia 8, Multifactorial
609258MYP9Myopia 9, Multifactorial
608517MYPNCardiomyopathy, hypertrophic, 22; Congenital myopathy 24; Cardiomyopathy, familial restrictive, 4; Cardiomyopathy, dilated, 1KK
608329MYRFEncephalitis/encephalopathy, mild, with reversible myelin vacuolization; Cardiac-urogenital syndrome
612176MYSM1Bone marrow failure syndrome 4
613084MYT1LIntellectual developmental disorder 39
614071MYZAPCardiomyopathy, dilated, 2K
300013NAA10Microphthalmia, syndromic 1, X-linked; Ogden syndrome, X-linked dominant, X-linked recessive
608000NAA15Intellectual developmental disorder 50, with behavioral abnormalities
610833NAA20Intellectual developmental disorder 73
614246NAA60Basal ganglia calcification, idiopathic, 9
607073NAA80Auroneurodental syndrome
610672NACC1Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
615787NADK22,4-dienoyl-CoA reductase deficiency
608285NADSYN1Vertebral, cardiac, renal, and limb defects syndrome 3
603385NAE1Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
617868NAF1Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7
613282NAFLD1Fatty liver disease, susceptibility to, 1, Multifactorial
613387NAFLD2Fatty liver disease, susceptibility to, 2, Multifactorial
104170NAGASchindler disease, type I; Kanzaki disease; Schindler disease, type III
609701NAGLUCharcot-Marie-Tooth disease, axonal, type 2V; Mucopolysaccharidosis type IIIB (Sanfilippo B)
608300NAGSN-acetylglutamate synthase deficiency
611549NALCNCongenital contractures of the limbs and face, hypotonia, and developmental delay; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
608226NANOS1Spermatogenic failure 12
605202NANSSpondyloepimetaphyseal dysplasia, Genevieve type
611270NAPBDevelopmental and epileptic encephalopathy 107
108410NARS1Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities; Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
612803NARS2Combined oxidative phosphorylation deficiency 24; Deafness 94
612182NAT2Acetylation, slow
610647NAT8LN-acetylaspartate deficiency
615910NAXDEncephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
608862NAXEEncephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy
608025NBASShort stature, optic nerve atrophy, and Pelger-Huet anomaly; Infantile liver failure syndrome 2
604889NBEANeurodevelopmental disorder with or without early-onset generalized epilepsy
614169NBEAL2Gray platelet syndrome
613015NBLST4Neuroblastoma, susceptibility to, 4
613016NBLST5Neuroblastoma, susceptibility to, 5
613017NBLST6Neuroblastoma, susceptibility to, 6
616792NBLST7Neuroblastoma, susceptibility to, 7
602667NBNLeukemia, acute lymphoblastic; Aplastic anemia; Nijmegen breakage syndrome
615638NCAPD2Microcephaly 21, primary
609276NCAPD3Microcephaly 22, primary
608532NCAPG2Khan-Khan-Katsanis syndrome
602332NCAPHMicrocephaly 23, primary
608458NCDNNeurodevelopmental disorder with infantile epileptic spasms
608512NCF1Chronic granulomatous disease 1
608515NCF2Chronic granulomatous disease 2
601488NCF4Chronic granulomatous disease 3
141180NCKAP1LImmunodeficiency 72 with autoinflammation
611550NCR3Malaria, mild, susceptibility to
605254NCSTNAcne inversa, familial, 1
609449NDE1Microhydranencephaly; Lissencephaly 4 (with microcephaly)
605779NDICNail disorder, nonsyndromic congenital, 7
614149NDNC9Nail disorder, nonsyndromic congenital, 9
616506NDNFHypogonadotropic hypogonadism 25 with anosmia
300658NDPExudative vitreoretinopathy 2, X-linked, X-linked dominant, X-linked recessive; Norrie disease, X-linked recessive
605262NDRG1Charcot-Marie-Tooth disease, type 4D
600853NDST1Intellectual developmental disorder 46
300078NDUFA1Mitochondrial complex I deficiency, nuclear type 12, X-linked recessive
603835NDUFA10Mitochondrial complex I deficiency, nuclear type 22
612638NDUFA11Mitochondrial complex I deficiency, nuclear type 14
614530NDUFA12Mitochondrial complex I deficiency, nuclear type 23
609435NDUFA13Thyroid carcinoma, Hurthle cell; Mitochondrial complex I deficiency, nuclear type 28
602137NDUFA2Mitochondrial complex I deficiency, nuclear type 13
603833NDUFA4Mitochondrial complex IV deficiency, nuclear type 21
602138NDUFA6Mitochondrial complex I deficiency, nuclear type 33
603359NDUFA8Mitochondrial complex I deficiency, nuclear type 37
603834NDUFA9Mitochondrial complex I deficiency, nuclear type 26
606934NDUFAF1Mitochondrial complex I deficiency, nuclear type 11
609653NDUFAF2Mitochondrial complex I deficiency, nuclear type 10
612911NDUFAF3Mitochondrial complex I deficiency, nuclear type 18
611776NDUFAF4Mitochondrial complex I deficiency, nuclear type 15
612360NDUFAF5Mitochondrial complex I deficiency, nuclear type 16
612392NDUFAF6Mitochondrial complex I deficiency, nuclear type 17; Fanconi renotubular syndrome 5
618461NDUFAF8Mitochondrial complex I deficiency, nuclear type 34
603843NDUFB10Mitochondrial complex I deficiency, nuclear type 35
300403NDUFB11Linear skin defects with multiple congenital anomalies 3, X-linked dominant; Mitochondrial complex I deficiency, nuclear type 30, X-linked
603839NDUFB3Mitochondrial complex I deficiency, nuclear type 25
603842NDUFB7Mitochondrial complex I deficiency, nuclear type 39
602140NDUFB8Mitochondrial complex I deficiency, nuclear type 32
601445NDUFB9Mitochondrial complex I deficiency, nuclear type 24
603845NDUFC2Mitochondrial complex I deficiency, nuclear type 36
157655NDUFS1Mitochondrial complex I deficiency, nuclear type 5
602985NDUFS2Leber-like hereditary optic neuropathy 2; Mitochondrial complex I deficiency, nuclear type 6
603846NDUFS3Mitochondrial complex I deficiency, nuclear type 8
602694NDUFS4Mitochondrial complex I deficiency, nuclear type 1
603848NDUFS6Mitochondrial complex I deficiency, nuclear type 9
601825NDUFS7Mitochondrial complex I deficiency, nuclear type 3
602141NDUFS8Mitochondrial complex I deficiency, nuclear type 2
161015NDUFV1Mitochondrial complex I deficiency, nuclear type 4
600532NDUFV2Mitochondrial complex I deficiency, nuclear type 7
161650NEBNemaline myopathy 2; Arthrogryposis multiplex congenita 6
611623NECAP1Developmental and epileptic encephalopathy 21
600644NECTIN1Cleft lip/palate-ectodermal dysplasia syndrome; Orofacial cleft 7
609607NECTIN4Ectodermal dysplasia-syndactyly syndrome 1
606384NEDD4LPeriventricular nodular heterotopia 7
609469NEDENephropathy, progressive, with deafness
162230NEFHCharcot-Marie-Tooth disease, axonal, type 2CC; Amyotrophic lateral sclerosis, susceptibility to
162280NEFLCharcot-Marie-Tooth disease, type 1F; Charcot-Marie-Tooth disease, dominant intermediate G; Charcot-Marie-Tooth disease, type 2E
604588NEK1Short-rib thoracic dysplasia 6 with or without polydactyly, Digenic recessive; Orofaciodigital syndrome II; Amyotrophic lateral sclerosis, susceptibility to, 24
618726NEK10Ciliary dyskinesia, primary, 44
604043NEK2Retinitis pigmentosa 67
609799NEK8Renal-hepatic-pancreatic dysplasia 2; Polycystic kidney disease 8; Nephronophthisis 9
609798NEK9Arthrogryposis, Perthes disease, and upward gaze palsy; Nevus comedonicus, somatic; Lethal congenital contracture syndrome 10
608378NEMFIntellectual developmental disorder with speech delay and axonal peripheral neuropathy
617089NEPROAnauxetic dysplasia 3
608272NEU1Sialidosis, type II; Sialidosis, type I
601724NEUROD1Type 2 diabetes mellitus, susceptibility to; Maturity-onset diabetes of the young 6
601725NEUROD2Developmental and epileptic encephalopathy 72
601726NEUROG1Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay
604882NEUROG3Diarrhea 4, malabsorptive, congenital
300524NEXMIFIntellectual developmental disorder, X-linked 98, X-linked dominant
613121NEXNCardiomyopathy, dilated, 1CC; Cardiomyopathy, hypertrophic, 20
613113NF1Watson syndrome; Leukemia, juvenile myelomonocytic, Somatic mutation; Neurofibromatosis, familial spinal; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome
607379NF2Meningioma, NF2-related, somatic; Schwannomatosis, vestibular; Schwannomatosis, somatic
609145NFASCNeurodevelopmental disorder with central and peripheral motor dysfunction
600490NFATC2Joint contracture, osteochondromas, and B-cell lymphoma
600492NFE2L2Immunodeficiency, developmental delay, and hypohomocysteinemia
600727NFIABrain malformations with or without urinary tract defects
600728NFIBMacrocephaly, acquired, with impaired intellectual development
164005NFIXMarshall-Smith syndrome; Malan syndrome
164011NFKB1Immunodeficiency, common variable, 12
164012NFKB2Immunodeficiency, common variable, 10
164008NFKBIAEctodermal dysplasia and immunodeficiency 2
601022NFKBIL1Rheumatoid arthritis, susceptibility to
603485NFS1Combined oxidative phosphorylation deficiency 52
608100NFU1Spastic paraplegia 93; Multiple mitochondrial dysfunctions syndrome 1
162030NGFNeuropathy, hereditary sensory and autonomic, type V
610661NGLY1Congenital disorder of deglycosylation 1
611290NHEJ1Microphthalmia/coloboma 13; Immunodeficiency 124, severe combined
604990NHERF1Nephrolithiasis/osteoporosis, hypophosphatemic, 2
162361NHLH2Hypogonadotropic hypogonadism 27 without anosmia
608072NHLRC1Myoclonic epilepsy of Lafora 2
618277NHLRC2FINCA syndrome
606470NHP2Dyskeratosis congenita 2
300457NHSCataract 40, X-linked, X-linked; Nance-Horan syndrome, X-linked dominant
601407NIDDM2Diabetes mellitus, noninsulin-dependent, 2
603694NIDDM3Type 2 diabetes mellitus 3
608036NIDDM4Diabetes mellitus, noninsulin-dependent
608684NINSeckel syndrome 7
608145NIPA1Spastic paraplegia 6
609383NIPAL4Ichthyosis, congenital 6
608667NIPBLCornelia de Lange syndrome 1
300766NKAPIntellectual developmental disorder, X-linked syndromic, Hackman-Di Donato type, X-linked recessive
272370NKS1Lysis by alloreactive natural killer cells, susceptibility to
600635NKX2-1Chorea, hereditary benign; Thyroid cancer, nonmedullary, 1; Choreoathetosis, hypothyroidism, and neonatal respiratory distress
600584NKX2-5Hypoplastic left heart syndrome 2; Tetralogy of Fallot; Hypothyroidism, congenital nongoitrous, 5; Conotruncal heart malformations, variable; Ventricular septal defect 3; Atrial septal defect 7, with or without AV conduction defects
611770NKX2-6Persistent truncus arteriosus; Conotruncal heart malformations
602183NKX3-2Spondylo-megaepiphyseal-metaphyseal dysplasia
605955NKX6-2Spastic ataxia 8, with hypomyelinating leukodystrophy
600568NLGN1Autism, susceptibility to, 20
300336NLGN3Autism susceptibility, X-linked 1, X-linked
300427NLGN4XIntellectual developmental disorder, X-linked, X-linked; Autism susceptibility, X-linked 2, X-linked
606831NLRC4Familial cold autoinflammatory syndrome 4; Autoinflammation with infantile enterocolitis
606636NLRP1Vitiligo-associated multiple autoimmune disease susceptibility 1; Respiratory papillomatosis, juvenile recurrent, congenital; Autoinflammation with arthritis and dyskeratosis; Palmoplantar carcinoma, multiple self-healing
609648NLRP12Familial cold autoinflammatory syndrome 2
609364NLRP2Oocyte/zygote/embryo maturation arrest 18
606416NLRP3CINCA syndrome; Familial cold inflammatory syndrome 1; Keratoendothelitis fugax hereditaria; Deafness 34, with or without inflammation; Muckle-Wells syndrome
609658NLRP5Oocyte/zygote/embryo maturation arrest 19
609661NLRP7Hydatidiform mole, recurrent, 1
603575NME5Ciliary dyskinesia, primary, 48, without situs inversus
607421NME8Ciliary dyskinesia, primary, 6
608700NMNAT1Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis; Leber congenital amaurosis 9
606240NMTC3Thyroid carcinoma, nonmedullary, 3
600008NNMTHomocysteine plasma level
600165NNO1Nanophthalmos-1
611897NNO3Nanophthalmos 3
607878NNTGlucocorticoid deficiency 4, with or without mineralocorticoid deficiency
610934NOBOXPremature ovarian failure 5
605956NOD2Blau syndrome; Yao syndrome, Multifactorial; Inflammatory bowel disease 1, Crohn disease, Multifactorial
601265NODALHeterotaxy, visceral, 5
602991NOGSymphalangism, proximal, 1A; Brachydactyly, type B2; Stapes ankylosis with broad thumbs and toes; Tarsal-carpal coalition syndrome; Multiple synostoses syndrome 1
605235NOL3Myoclonus, familial, 1
300084NONOIntellectual developmental disorder, X-linked syndromic 34, X-linked
606471NOP10Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9; Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2; Dyskeratosis congenita 1
614154NOP56Spinocerebellar ataxia 36
605551NOS1APNephrotic syndrome, type 22
163730NOS2Malaria, resistance to
163729NOS3Coronary artery spasm 1, susceptibility to; Hypertension, susceptibility to, Multifactorial; Placental abruption; Alzheimer disease, late-onset, susceptibility to; Hypertension, pregnancy-induced; Ischemic stroke, susceptibility to, Multifactorial
190198NOTCH1Adams-Oliver syndrome 5; Aortic valve disease 1
600275NOTCH2Alagille syndrome 2; Hajdu-Cheney syndrome
618025NOTCH2NLCTremor, hereditary essential, 6; Oculopharyngodistal myopathy 3; Neuronal intranuclear inclusion disease
600276NOTCH3Lateral meningocele syndrome; Myofibromatosis, infantile 2; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1
601991NOVA2Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
607623NPC1Niemann-Pick disease, type C1; Niemann-Pick disease, type D
608010NPC1L1Ezetimibe, nonresponse to; Low density lipoprotein cholesterol level QTL 7
601015NPC2Niemann-pick disease, type C2
607107NPCA1Nasopharyngeal carcinoma 1
161550NPCA2Nasopharyngeal carcinoma, susceptibility to, 2
607100NPHP1Joubert syndrome 4; Nephronophthisis 1, juvenile; Senior-Loken syndrome-1
608002NPHP3Nephronophthisis 3; Renal-hepatic-pancreatic dysplasia 1; Meckel syndrome 7
607215NPHP4Senior-Loken syndrome 4; Nephronophthisis 4
602716NPHS1Nephrotic syndrome, type 1
604766NPHS2Nephrotic syndrome, type 2
164040NPM1Leukemia, acute myeloid, somatic
108780NPPAAtrial standstill 2; Atrial fibrillation, familial, 6
108961NPR2Epiphyseal chondrodysplasia, Miura type; Short stature with nonspecific skeletal abnormalities; Acromesomelic dysplasia 1, Maroteaux type
108962NPR3Boudin-Mortier syndrome
607072NPRL2Epilepsy, familial focal, with variable foci 2
600928NPRL3Epilepsy, familial focal, with variable foci 3
608595NPSR1Asthma, susceptibility to, 2
602367NPTX1Spinocerebellar ataxia 50
125860NQO1Breast cancer, poor survival after chemotherapy for; Leukemia, post-chemotherapy, susceptibility to; Benzene toxicity, susceptibility to
160998NQO2Breast cancer susceptibility, Somatic mutation
300473NR0B1Adrenal hypoplasia, congenital, X-linked recessive; 46XY sex reversal 2, dosage-sensitive, X-linked
604630NR0B2Obesity, mild, early-onset, Multifactorial
603826NR1H4Cholestasis, progressive familial intrahepatic, 5
604485NR2E3Retinitis pigmentosa 37; Enhanced S-cone syndrome
132890NR2F1Bosch-Boonstra-Schaaf optic atrophy syndrome
107773NR2F246XX sex reversal 5; Congenital heart defects, multiple types, 4
138040NR3C1Glucocorticoid resistance
600983NR3C2Pseudohypoaldosteronism type I; Hypertension, early-onset, with exacerbation in pregnancy
601828NR4A2Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
600542NR4A3Chondrosarcoma, extraskeletal myxoid
184757NR5A146XX sex reversal 4; Premature ovarian failure 7; 46XY sex reversal 3; Adrenocortical insufficiency; Spermatogenic failure 8
164790NRASNoonan syndrome 6; RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic; Melanocytic nevus syndrome, congenital, somatic; Epidermal nevus, somatic; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic; Thyroid carcinoma, follicular, somatic; Neurocutaneous melanosis, somatic; Colorectal cancer, somatic
601581NRCAMNeurodevelopmental disorder with neuromuscular and skeletal abnormalities
605841NRCLP2Narcolepsy 2
609039NRCLP3Narcolepsy 3
612417NRCLP4Narcolepsy 4
612851NRCLP5Narcolepsy 5
614223NRCLP6Narcolepsy 6
142445NRG1Schizophrenia, susceptibility to
602490NRIP1Congenital anomalies of kidney and urinary tract 3
162080NRLRetinitis pigmentosa 27; Retinal degeneration, clumped pigment type
615322NRROSSeizures, early-onset, with neurodegeneration and brain calcification
600565NRXN1Pitt-Hopkins-like syndrome 2; Schizophrenia, susceptibility to, 17
606681NSD1Sotos syndrome
602952NSD2Rauch-Steindl syndrome
300275NSDHLCK syndrome, X-linked recessive; CHILD syndrome, X-linked dominant
601633NSFDevelopmental and epileptic encephalopathy 96
617246NSMCE2Seckel syndrome 10
608243NSMCE3Lung disease, immunodeficiency, and chromosome breakage syndrome
608137NSMFHypogonadotropic hypogonadism 9 with or without anosmia
616173NSRP1Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities
610916NSUN2Intellectual developmental disorder 5
617491NSUN3Combined oxidative phosphorylation deficiency 48
617199NSUN6Intellectual developmental disorder 82
600417NT5C2Spastic paraplegia 45
606224NT5C3AAnemia, congenital, nonspherocytic hemolytic, 8
129190NT5ECalcification of joints and arteries
162662NTF4Glaucoma 1, open angle, 1O
602656NTHL1Familial adenomatous polyposis 3
601614NTN1Mirror movements 4
618689NTNG2Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
191315NTRK1Insensitivity to pain, congenital, with anhidrosis
600456NTRK2Developmental and epileptic encephalopathy 58; Obesity, hyperphagia, and developmental delay
608131NUAK2Anencephaly 2
613621NUBPLMitochondrial complex I deficiency, nuclear type 21
615792NUDT15Thiopurines, poor metabolism of, 2
602852NUDT2Intellectual developmental disorder with or without peripheral neuropathy
607617NUP107Ovarian dysgenesis 6; Galloway-Mowat syndrome 7; Nephrotic syndrome, type 11
607613NUP133Galloway-Mowat syndrome 8; Nephrotic syndrome, type 18
606694NUP155Atrial fibrillation 15
607614NUP160Nephrotic syndrome, type 19
615587NUP188Sandestig-Stefanova syndrome
614352NUP205Nephrotic syndrome, type 13
114350NUP214Leukemia, T-cell acute lymphoblastic, somatic; Leukemia, acute myeloid, somatic; Encephalopathy, acute, infection-induced, susceptibility to, 9
609264NUP37Microcephaly 24, primary
607607NUP54Dystonia 37, early-onset, with striatal lesions
605815NUP62Striatonigral degeneration, infantile
170285NUP85Nephrotic syndrome, type 17
602552NUP88Fetal akinesia deformation sequence 4
614351NUP93Nephrotic syndrome, type 12
610463NUS1Intellectual developmental disorder 55, with seizures; Congenital disorder of glycosylation, type 1aa
618639NUTM2B-AS1Oculopharyngeal myopathy with leukoencephalopathy 1
612895NXNRobinow syndrome 2
164100NYS2Nystagmus 2, congenital
608345NYS3Nystagmus 3, congenital
300589NYS5Nystagmus 5, congenital, X-linked, X-linked dominant
300278NYXNight blindness, congenital stationary (complete), 1A, X-linked, X-linked recessive
164350OAS1Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia
300650OASDOcular albinism with sensorineural deafness, X-linked
613349OATGyrate atrophy of choroid and retina with or without ornithinemia
608616OBSCNRhabdomyolysis, susceptibility to, 1
610991OBSL13-M syndrome 2
611409OCA2Skin/hair/eye pigmentation 1, blue/nonblue eyes; Skin/hair/eye pigmentation 1, blond/brown hair; Albinism, brown oculocutaneous; Albinism, oculocutaneous, type II
615312OCA5Albinism, oculocutaneous, type V
602876OCLNPseudo-TORCH syndrome 1
300535OCRLDent disease 2, X-linked recessive; Lowe syndrome, X-linked recessive
615038ODAD1Ciliary dyskinesia, primary, 20
615408ODAD2Ciliary dyskinesia, primary, 23
615956ODAD3Ciliary dyskinesia, primary, 30
617095ODAD4Ciliary dyskinesia, primary, 35
614829ODAPHAmelogenesis imperfecta, type IIA4
165640ODC1Bachmann-Bupp syndrome
610064ODS1Opioid dependence, susceptibility to, 1
119530OFC1Orofacial cleft-1
612858OFC12Orofacial cleft 12
613857OFC13Orofacial cleft 13
615892OFC14Orofacial cleft 14
602966OFC2Orofacial cleft 2
600757OFC3Orofacial cleft 3, Autosomal dominant
608371OFC4Orofacial cleft 4
610361OFC9Orofacial cleft 9
300170OFD1Simpson-Golabi-Behmel syndrome, type 2, X-linked recessive; Retinitis pigmentosa 23, X-linked recessive; Orofaciodigital syndrome I, X-linked dominant; Joubert syndrome 10, X-linked recessive
613022OGDHOxoglutarate dehydrogenase deficiency
617513OGDHLYoon-Bellen neurodevelopmental syndrome
601982OGG1Renal cell carcinoma, clear cell, somatic
300255OGTIntellectual developmental disorder, X-linked 106, X-linked recessive
143850OHDSOrthostatic hypotensive disorder of Streeten
602601OLR1Myocardial infarction, susceptibility to
605290OPA1Optic atrophy plus syndrome; Glaucoma, normal tension, susceptibility to; Optic atrophy 1; Behr syndrome; Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)
311050OPA2Optic atrophy 2, X-linked, X-linked
606580OPA33-methylglutaconic aciduria, type III; Optic atrophy 3 with cataract
605293OPA4Optic atrophy 4
258500OPA6Optic atrophy 6
616648OPA8Optic atrophy 8
600632OPCMLOvarian cancer, somatic
300127OPHN1Intellectual developmental disorder, X-linked syndromic, Billuart type, X-linked recessive
614243OPLAH5-oxoprolinase deficiency
300822OPN1LWBlue cone monochromacy, X-linked recessive; Colorblindness, protan, X-linked
300821OPN1MWColorblindness, deutan, X-linked; Blue cone monochromacy, X-linked recessive
613522OPN1SWColorblindness, tritan
602432OPTNGlaucoma 1, open angle, E; Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia; Glaucoma, normal tension, susceptibility to
615016OR2J3C3HEX, ability to smell
610277ORAI1Immunodeficiency 9; Myopathy, tubular aggregate, 2
601902ORC1Meier-Gorlin syndrome 1
603056ORC4Meier-Gorlin syndrome 2
607213ORC6Meier-Gorlin syndrome 3
610839OS4Osteoarthritis susceptibility 4
612401OS6Osteoarthritis susceptibility 6
606731OSBPL2Deafness 67
610107OSGEPGalloway-Mowat syndrome 3
601743OSMRAmyloidosis, primary localized cutaneous, 1
607649OSTM1Osteopetrosis 5
300461OTCOrnithine transcarbamylase deficiency, X-linked
607038OTOADeafness 22
603681OTOFAuditory neuropathy, 1; Deafness 9
604487OTOGDeafness 18B
614925OTOGLDeafness 84B
166800OTSC1Otosclerosis 1
615589OTSC10Otosclerosis 10
605727OTSC2Otosclerosis 2
608244OTSC3Otosclerosis 3
611571OTSC4Otosclerosis 4
608787OTSC5Otosclerosis 5
611572OTSC7Otosclerosis 7
612096OTSC8Otosclerosis 8
300713OTUD5Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, X-linked recessive
612021OTUD6BIntellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
612024OTUD7ANeurodevelopmental disorder with hypotonia and seizures
615712OTULINAutoinflammation, panniculitis, and dermatosis syndrome; Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection
600037OTX2Retinal dystrophy, early-onset, with or without pituitary dysfunction; Pituitary hormone deficiency, combined, 6; Microphthalmia, syndromic 5
607893OVCAS1Ovarian cancer, susceptibility to
616441OVOL2Corneal dystrophy, posterior polymorphous, 1
601424OXCT1Succinyl CoA:3-oxoacid CoA transferase deficiency
606922OXGR1Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis
605609OXR1Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay
600844P2RX2Deafness 41
600515P2RY12Bleeding disorder, platelet-type, 8
610339P3H1Osteogenesis imperfecta, type VIII
610341P3H2Myopia, high, with cataract and vitreoretinal degeneration
600608P4HA2Myopia 25
176790P4HBCole-Carpenter syndrome 1
614584P4HTMHypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
602279PABPN1Oculopharyngeal muscular dystrophy
607492PACS1Schuurs-Hoeijmakers syndrome
610423PACS2Developmental and epileptic encephalopathy 66
606755PADI3Uncombable hair syndrome
610363PADI6Oocyte/zygote/embryo maturation arrest 16
601545PAFAH1B1Subcortical laminar heterotopia; Lissencephaly 1
128700PAFCPreauricular fistulae, congenital
612349PAHHyperphenylalaninemia, non-PKU mild; Phenylketonuria
172439PAICSPhosphoribosylaminoimidazole carboxylase deficiency
602590PAK1Intellectual developmental disorder with macrocephaly, seizures, and speech delay
605022PAK2Knobloch syndrome 2
300142PAK3Intellectual developmental disorder, X-linked 30, X-linked recessive
610355PALB2Breast-ovarian cancer, familial, susceptibility to, 5; Pancreatic cancer, susceptibility to, 3; Fanconi anemia, complementation group N
608092PALLDPancreatic cancer, susceptibility to, 1
614336PAM16Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type
167870PAND1Panic disorder syndrome 1, Autosomal dominant
607853PAND2Panic disorder 2
609985PAND3Panic disorder 3
606157PANK2Neurodegeneration with brain iron accumulation 1
606162PANK4Cataract 49
608420PANX1Oocyte/zygote/embryo maturation arrest 7
606787PAOD1Peripheral arterial occlusive disease 1
602085PAPA2Postaxial polydactyly, type A2
607324PAPA3Polydactyly, postaxial, type A3
608562PAPA4Polydactyly, postaxial, type A4
263450PAPA5Polydactyly, postaxial, type A5
619485PAPPA2Short stature, Dauber-Argente type
603005PAPSS2Brachyolmia 4 with mild epiphyseal and metaphyseal changes
606852PARK10Parkinson disease 10
300557PARK12Parkinson disease 12
613164PARK16Parkinson disease 16
616361PARK21Parkinson disease 21
602404PARK3Parkinson disease 3
602533PARK7Parkinson disease 7 early-onset
604212PARNDyskeratosis congenita 6; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 4
612036PARS2Developmental and epileptic encephalopathy 75
614661PATL2Oocyte/zygote/embryo maturation arrest 4
610420PAURT1Preauricular tag, isolated, 1
167411PAX1Otofaciocervical syndrome 2 with T-cell deficiency
167409PAX2Glomerulosclerosis, focal segmental, 7; Papillorenal syndrome
606597PAX3Craniofacial-deafness-hand syndrome; Waardenburg syndrome, type 3; Waardenburg syndrome, type 1; Rhabdomyosarcoma 2, alveolar, Somatic mutation
167413PAX4Diabetes mellitus, ketosis-prone, susceptibility to; Maturity-onset diabetes of the young, type IX; Diabetes mellitus, type 2
167414PAX5Leukemia, acute lymphoblastic, susceptibility to, 3
607108PAX6Optic nerve hypoplasia; Cataract with late-onset corneal dystrophy; Microphthalmia/coloboma 12; Coloboma of optic nerve; Aniridia; Anterior segment dysgenesis 5, multiple subtypes; Morning glory disc anomaly; Foveal hypoplasia 1; Keratitis
167410PAX7Congenital myopathy 19; Rhabdomyosarcoma 2, alveolar, Somatic mutation
167415PAX8Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
167416PAX9Tooth agenesis, selective, 3
613007PBC2Biliary cirrhosis, primary, 2
613008PBC3Biliary cirrhosis, primary, 3
614220PBC4Biliary cirrhosis, primary, 4
614221PBC5Biliary cirrhosis, primary, 5
600089PBCADiabetes mellitus, insulin-dependent, neonatal
606083PBRM1Renal cell carcinoma, clear cell
176310PBX1Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
608786PCPyruvate carboxylase deficiency
602759PCAPProstate cancer, susceptibility to
613425PCARERetinitis pigmentosa 54
126090PCBD1Hyperphenylalaninemia, BH4-deficient, D
232000PCCAPropionicacidemia
232050PCCBPropionicacidemia
605622PCDH12Diencephalic-mesencephalic junction dysplasia syndrome 1
605514PCDH15Usher syndrome, type 1D/F digenic, Digenic recessive; Deafness 23; Usher syndrome, type 1F
300460PCDH19Developmental and epileptic encephalopathy 9, X-linked
606305PCDHGC4Neurodevelopmental disorder with poor growth and skeletal anomalies
600346PCGF2Turnpenny-Fry syndrome
614168PCK1Phosphoenolpyruvate carboxykinase deficiency, cytosolic
614095PCK2PEPCK deficiency, mitochondrial
604918PCLOPontocerebellar hypoplasia, type 3
176740PCNAAtaxia-telangiectasia-like disorder 2
605925PCNTMicrocephalic osteodysplastic primordial dwarfism, type II
184700PCOS1Polycystic ovary syndrome 1
162150PCSK1Obesity, susceptibility to, BMIQ12; Endocrinopathy due to proprotein convertase 1/3 deficiency
607786PCSK9Low density lipoprotein cholesterol level QTL 1; Hypercholesterolemia, familial, 3
123695PCYT1ASpondylometaphyseal dysplasia with cone-rod dystrophy; Lipodystrophy, congenital generalized, type 5
602679PCYT2Spastic paraplegia 82
607411PDA1Patent ductus arteriosus, susceptibility to
606263PDB4Paget disease of bone 4
600244PDCD1Multiple sclerosis, disease progression, modifier of, Multifactorial; Systemic lupus erythematosus, susceptibility to, 2
609118PDCD10Cerebral cavernous malformations-3
608074PDCD6IPMicrocephaly 29, primary
614590PDCOSPodoconiosis, susceptibility to
610652PDE10AStriatal degeneration; Dyskinesia, limb and orofacial, infantile-onset
604961PDE11APigmented nodular adrenocortical disease, primary, 2
602987PDE1CDeafness 74
602658PDE2AIntellectual developmental disorder with paroxysmal dyskinesia or seizures
123805PDE3AHypertension and brachydactyly syndrome
600129PDE4DAcrodysostosis 2, with or without hormone resistance
180071PDE6ARetinitis pigmentosa 43
180072PDE6BRetinitis pigmentosa-40; Night blindness, congenital stationary 2
600827PDE6CCone dystrophy 4
602676PDE6DJoubert syndrome 22
180073PDE6GRetinitis pigmentosa 57
601190PDE6HRetinal cone dystrophy 3; Achromatopsia 6
603390PDE8BPigmented nodular adrenocortical disease, primary, 3; Striatal degeneration
190040PDGFBMeningioma, SIS-related; Basal ganglia calcification, idiopathic, 5; Dermatofibrosarcoma protuberans
173490PDGFRAGastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial; Hypereosinophilic syndrome, idiopathic, resistant to imatinib, Somatic mutation, Isolated cases
173410PDGFRBPremature aging syndrome, Penttinen type; Kosaki overgrowth syndrome; Myofibromatosis, infantile, 1; Basal ganglia calcification, idiopathic, 4; Myeloproliferative disorder with eosinophilia
604584PDGFRLHepatocellular cancer, somatic; Colorectal cancer, somatic
300502PDHA1Pyruvate dehydrogenase E1-alpha deficiency, X-linked dominant
179061PDHA2Spermatogenic failure 70
179060PDHBPyruvate dehydrogenase E1-beta deficiency
608769PDHXLacticacidemia due to PDX1 deficiency
300906PDK3Charcot-Marie-Tooth disease, X-linked dominant, 6, X-linked dominant
603422PDLIM4Osteoporosis, susceptibility to
608526PDON2Periodontitis, aggressive, 2
605993PDP1Pyruvate dehydrogenase phosphatase deficiency
607429PDSS1Coenzyme Q10 deficiency, primary, 2
610564PDSS2Coenzyme Q10 deficiency, primary, 3
600733PDX1Diabetes mellitus, type II, susceptibility to; Pancreatic agenesis 1; MODY, type IV
179020PDXKNeuropathy, hereditary motor and sensory, type VIC, with optic atrophy
131340PDYNSpinocerebellar ataxia 23
612971PDZD7Deafness 57; Retinal disease in Usher syndrome type IIA, modifier of; Usher syndrome, type IIC, GPR98/PDZD7 digenic, Digenic dominant
614235PDZD8Intellectual developmental disorder with autism and dysmorphic facies
189800PEE1Preeclampsia/eclampsia 1
609402PEE2Preeclampsia/eclampsia 2
609403PEE3Preeclampsia/eclampsia 3
613230PEPDProlidase deficiency
603426PER2Advanced sleep phase syndrome, familial, 1
603427PER3Advanced sleep phase syndrome, familial, 3
618656PERCC1Diarrhea 11, malabsorptive, congenital
609301PERPErythrokeratodermia variabilis et progressiva 7; Olmsted syndrome 2
614770PET100Mitochondrial complex IV deficiency, nuclear type 12
614771PET117Mitochondrial complex IV deficiency, nuclear type 19
602136PEX1Heimler syndrome 1; Peroxisome biogenesis disorder 1B (NALD/IRD); Peroxisome biogenesis disorder 1A (Zellweger)
602859PEX10Peroxisome biogenesis disorder 6A (Zellweger); Peroxisome biogenesis disorder 6B
603867PEX11BPeroxisome biogenesis disorder 14B
601758PEX12Peroxisome biogenesis disorder 3B; Peroxisome biogenesis disorder 3A (Zellweger)
601789PEX13Peroxisome biogenesis disorder 11A (Zellweger); Peroxisome biogenesis disorder 11B
601791PEX14Peroxisome biogenesis disorder 13A (Zellweger)
603360PEX16Peroxisome biogenesis disorder 8B; Peroxisome biogenesis disorder 8A (Zellweger)
600279PEX19Peroxisome biogenesis disorder 12A (Zellweger)
170993PEX2Peroxisome biogenesis disorder 5A (Zellweger); Peroxisome biogenesis disorder 5B
608666PEX26Peroxisome biogenesis disorder 7B; Peroxisome biogenesis disorder 7A (Zellweger)
603164PEX3Peroxisome biogenesis disorder 10A (Zellweger); Peroxisome biogenesis disorder 10B
600414PEX5Peroxisome biogenesis disorder 2B; Peroxisome biogenesis disorder 2A (Zellweger); Rhizomelic chondrodysplasia punctata, type 5
601498PEX6Peroxisome biogenesis disorder 4B; Peroxisome biogenesis disorder 4A (Zellweger); Heimler syndrome 2
601757PEX7Rhizomelic chondrodysplasia punctata, type 1; Peroxisome biogenesis disorder 9B
248310PFBIMalaria, intensity of infection
611384PFFE1Plasmodium falciparum fever episodes QTL1
140400PFHB2Progressive familial heart block, type II
171860PFKLHemolytic anemia due to phosphofructokinase deficiency
610681PFKMGlycogen storage disease VII
609566PFM3Parietal foramina 3
176610PFN1Amyotrophic lateral sclerosis 18
612931PGAM2Glycogen storage disease X
611655PGAP1Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities
615187PGAP2Hyperphosphatasia with impaired intellectual development syndrome 3
611801PGAP3Hyperphosphatasia with impaired intellectual development syndrome 4
311800PGK1Phosphoglycerate kinase 1 deficiency, X-linked recessive
171900PGM1Congenital disorder of glycosylation, type It
611610PGM2L1Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities
172100PGM3Immunodeficiency 23
607311PGRProgesterone resistance
145260PHA2APseudohypoaldosteronism, type IIA
608723PHACTR1Developmental and epileptic encephalopathy 70
176705PHB1Breast cancer, susceptibility to, Somatic mutation
602978PHC1Microcephaly 11, primary
300550PHEXHypophosphatemic rickets, X-linked dominant, X-linked dominant
608325PHF21AIntellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
300414PHF6Borjeson-Forssman-Lehmann syndrome, X-linked recessive
300560PHF8Intellectual developmental disorder, X-linked syndromic, Siderius type, X-linked recessive
606879PHGDHNeu-Laxova syndrome 1; Phosphoglycerate dehydrogenase deficiency
612870PHIPChung-Jansen syndrome
311870PHKA1Muscle glycogenosis, X-linked recessive
300798PHKA2Glycogen storage disease, type IXa2, X-linked recessive; Glycogen storage disease, type IXa1, X-linked recessive
172490PHKBPhosphorylase kinase deficiency of liver and muscle
172471PHKG2Glycogen storage disease IXc
612834PHLDB1Osteogenesis imperfecta, type XXIII
608251PHOBSPhobia, specific
602753PHOX2AFibrosis of extraocular muscles, congenital, 2
603851PHOX2BNeuroblastoma, susceptibility to, 2; Neuroblastoma with Hirschsprung disease; Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
602026PHYHRefsum disease
614683PHYKPLPhosphohydroxylysinuria
609763PI4K2ANeurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities
600286PI4KASpastic paraplegia 84; Gastrointestinal defects and immunodeficiency syndrome 2; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
602758PI4KBDeafness 87
607532PIBF1Joubert syndrome 33
603025PICALMLeukemia, acute myeloid, somatic
605247PIDD1Intellectual developmental disorder 75, with neuropsychiatric features and variant lissencephaly
611184PIEZO1ER blood group system; Lymphatic malformation 6; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
613629PIEZO2Arthrogryposis, distal, type 5; Arthrogryposis, distal, with impaired proprioception and touch; Arthrogryposis, distal, type 3; Marden-Walker syndrome
311770PIGAParoxysmal nocturnal hemoglobinuria, somatic; Multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessive; Neurodevelopmental disorder with epilepsy and hemochromatosis, X-linked recessive
604122PIGBDevelopmental and epileptic encephalopathy 80
601730PIGCGlycosylphosphatidylinositol biosynthesis defect 16
600153PIGFOnychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
616918PIGGBlood group, EMM system; Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy
600154PIGHGlycosylphosphatidylinositol biosynthesis defect 17
605087PIGKNeurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
605947PIGLCHIME syndrome
610273PIGMGlycosylphosphatidylinositol deficiency
606097PIGNMultiple congenital anomalies-hypotonia-seizures syndrome 1
614730PIGOHyperphosphatasia with impaired intellectual development syndrome 2
605938PIGPDevelopmental and epileptic encephalopathy 55
605754PIGQMultiple congenital anomalies-hypotonia-seizures syndrome 4
610271PIGSDevelopmental and epileptic encephalopathy 95
610272PIGTParoxysmal nocturnal hemoglobinuria 2, Somatic mutation; Multiple congenital anomalies-hypotonia-seizures syndrome 3
608528PIGUNeurodevelopmental disorder with brain anomalies, seizures, and scoliosis
610274PIGVHyperphosphatasia with impaired intellectual development syndrome 1
610275PIGWGlycosylphosphatidylinositol biosynthesis defect 11
610662PIGYHyperphosphatasia with impaired intellectual development syndrome 6
603601PIK3C2AOculoskeletodental syndrome
171834PIK3CAHemifacial myohyperplasia, somatic; CLOVE syndrome, somatic; Hepatocellular carcinoma, somatic; Breast cancer, somatic; Cerebral cavernous malformations 4, somatic; Ovarian cancer, somatic; Colorectal cancer, somatic; Macrodactyly, somatic; CLAPO syndrome, somatic; Keratosis, seborrheic, somatic; Nevus, epidermal, somatic; Gastric cancer, somatic; Nonsmall cell lung cancer, somatic; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic; Cowden syndrome 5
602839PIK3CDImmunodeficiency 14A; Immunodeficiency 14B; Roifman-Chitayat syndrome, digenic, Digenic recessive
601232PIK3CGImmunodeficiency 97 with autoinflammation
171833PIK3R1Immunodeficiency 36; Agammaglobulinemia 7; SHORT syndrome
603157PIK3R2Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
611317PIK3R5Ataxia-oculomotor apraxia 3
609414PIKFYVECorneal fleck dystrophy
608309PINK1Parkinson disease 6, early onset
606102PIP5K1CLethal congenital contractural syndrome 3
612770PISDLiberfarb syndrome
608921PITPNM3Cone-rod dystrophy 5
618211PITRM1Spinocerebellar ataxia 30
602149PITX1Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly
601542PITX2Ring dermoid of cornea; Axenfeld-Rieger syndrome, type 1; Anterior segment dysgenesis 4
602669PITX3Cataract 11, multiple types; Anterior segment dysgenesis 1, multiple subtypes; Cataract 11, syndromic
610219PJVKDeafness 59
601313PKD1Polycystic kidney disease 1
609721PKD1L1Heterotaxy, visceral, 8, autosomal
173910PKD2Polycystic kidney disease 2
614150PKDCCRhizomelic limb shortening with dysmorphic features
606702PKHD1Polycystic kidney disease 4, with or without hepatic disease
607843PKHD1L1Deafness 124
609712PKLRAnemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient; Adenosine triphosphate, elevated, of erythrocytes
601975PKP1Ectodermal dysplasia/skin fragility syndrome
602861PKP2Arrhythmogenic right ventricular dysplasia 9
172411PLA2G2AColorectal cancer, susceptibility to, Somatic mutation
600522PLA2G4AGastrointestinal ulceration, recurrent, with dysfunctional platelets
601192PLA2G5Fleck retina, familial benign
603604PLA2G6Parkinson disease 14; Neurodegeneration with brain iron accumulation 2B; Infantile neuroaxonal dystrophy 1
601690PLA2G7Platelet-activating factor acetylhydrolase deficiency
603873PLAANeurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
613867PLAAT3Lipodystrophy, familial partial, type 9
603026PLAG1Adenomas, salivary gland pleomorphic, somatic; Silver-Russell syndrome 4
191840PLAUQuebec platelet disorder; Alzheimer disease, late-onset, susceptibility to
607120PLCB1Developmental and epileptic encephalopathy 12
604114PLCB2Platelet PLC beta-2 deficiency
600230PLCB3Spondylometaphyseal dysplasia with corneal dystrophy
600810PLCB4Auriculocondylar syndrome 2B; Auriculocondylar syndrome 2A
602142PLCD1Nail disorder, nonsyndromic congenital, 3, (leukonychia)
608414PLCE1Nephrotic syndrome, type 3
172420PLCG1Immune dysregulation, autoimmunity, and autoinflammation
600220PLCG2Autoinflammation, antibody deficiency, and immune dysregulation syndrome; Familial cold autoinflammatory syndrome 3
612835PLCH1Holoprosencephaly 14
608075PLCZ1Spermatogenic failure 17
602382PLD1Cardiac valvular dysplasia 1
615698PLD3Spinocerebellar ataxia 46
601282PLECEpidermolysis bullosa simplex 5D, generalized intermediate; Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex 5C, with pyloric atresia; Epidermolysis bullosa simplex 5A, Ogna type; Muscular dystrophy, limb-girdle 17
611893PLEKHG2Leukodystrophy and acquired microcephaly with or without dystonia
611101PLEKHG5Neuronopathy, distal hereditary motor 4; Charcot-Marie-Tooth disease, recessive intermediate C
611466PLEKHM1Osteopetrosis 6; Osteopetrosis 3
608852PLFPulmonary function
173350PLGDysplasminogenemia; Angioedema, hereditary, 4; Plasminogen deficiency, type I
170290PLIN1Lipodystrophy, familial partial, type 4
613247PLIN4Myopathy with rimmed ubiquitin-positive autophagic vacuolation
605031PLK4Microcephaly and chorioretinopathy, 2
172405PLNCardiomyopathy, dilated, 1P; Cardiomyopathy, hypertrophic, 18
153454PLOD1Ehlers-Danlos syndrome, kyphoscoliotic type, 1
601865PLOD2Bruck syndrome 2
603066PLOD3BCARD syndrome (lysyl hydroxylase 3 deficiency)
300401PLP1Pelizaeus-Merzbacher disease, X-linked recessive; Spastic paraplegia 2, X-linked, X-linked recessive
604436PLPBPEpilepsy, early-onset, 1, vitamin B6-dependent
602734PLS1Deafness 76
300131PLS3Bone mineral density QTL18, osteoporosis, X-linked dominant; Diaphragmatic hernia 5, X-linked, X-linked
611637PLSA1Primary lateral sclerosis, adult, 1
607647PLVAPDiarrhea 10, protein-losing enteropathy type
601055PLXNA1Dworschak-Punetha neurodevelopmental syndrome
604282PLXND1Congenital heart defects, multiple types, 9
618085PMFBP1Spermatogenic failure 31
601785PMM2Congenital disorder of glycosylation, type Ia
170715PMP2Charcot-Marie-Tooth disease, demyelinating, type 1G
601097PMP22Charcot-Marie-Tooth disease, type 1A; Roussy-Levy syndrome; Charcot-Marie-Tooth disease, type 1E; Neuropathy, inflammatory demyelinating, Autosomal dominant; Neuropathy, recurrent, with pressure palsies; Dejerine-Sottas disease
613036PMPCASpinocerebellar ataxia 2
603131PMPCBMultiple mitochondrial dysfunctions syndrome 6
600259PMS2Lynch syndrome 4; Mismatch repair cancer syndrome 4
607622PMVKPorokeratosis 1, multiple types
609023PNKDParoxysmal nonkinesigenic dyskinesia 1
611147PNKD2Paroxysmal nonkinesigenic dyskinesia 2
605610PNKPCharcot-Marie-Tooth disease, type 2B2; Ataxia-oculomotor apraxia 4; Microcephaly, seizures, and developmental delay
619529PNLDC1Spermatogenic failure 57
246600PNLIPPancreatic lipase deficiency
164050PNPImmunodeficiency due to purine nucleoside phosphorylase deficiency
612121PNPLA1Ichthyosis, congenital 10
609059PNPLA2Neutral lipid storage disease with myopathy
603197PNPLA6Spastic paraplegia 39; Oliver-McFarlane syndrome; Laurence-Moon syndrome; Boucher-Neuhauser syndrome
612123PNPLA8Mitochondrial myopathy with lactic acidosis
603287PNPOPyridoxamine 5′-phosphate oxidase deficiency
610316PNPT1Spinocerebellar ataxia 25; Deafness 70, with or without adult-onset neurodegeneration; Combined oxidative phosphorylation deficiency 13
614783POC1AShort stature, onychodysplasia, facial dysmorphism, and hypotrichosis
614784POC1BCone-rod dystrophy 20
300603POF1BPremature ovarian failure 2B, X-linked recessive
607491POFUT1Dowling-Degos disease 2
615618POGLUT1Dowling-Degos disease 4; Muscular dystrophy, limb-girdle 21
614787POGZWhite-Sutton syndrome
312040POLA1Pigmentary disorder, reticulate, with systemic manifestations, X-linked, X-linked recessive; Van Esch-O’Driscoll syndrome, X-linked recessive
174761POLD1Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome; Immunodeficiency 120; Colorectal cancer, susceptibility to, 10
611415POLD3Immunodeficiency 122
174762POLEColorectal cancer, susceptibility to, 12; FILS syndrome; IMAGE-I syndrome
174763POLGMitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial DNA depletion syndrome 4A (Alpers type); Progressive external ophthalmoplegia 1; Progressive external ophthalmoplegia 1
604983POLG2Progressive external ophthalmoplegia with mitochondrial DNA deletions 4; Mitochondrial DNA depletion syndrome 16 (hepatic type); Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type)
603968POLHXeroderma pigmentosum, variant type
616404POLR1ALeukodystrophy, hypomyelinating, 27; Acrofacial dysostosis, Cincinnati type
602000POLR1BTreacher-Collins syndrome 4
610060POLR1CLeukodystrophy, hypomyelinating, 11; Treacher Collins syndrome 3
613715POLR1DTreacher Collins syndrome 2
180660POLR2ANeurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
614258POLR3AWiedemann-Rautenstrauch syndrome; Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
614366POLR3BLeukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism; Charcot-Marie-Tooth disease, demyelinating, type 1I
617455POLR3FImmunodeficiency 101 (varicella zoster virus-specific)
617457POLR3GLShort stature, oligodontia, dysmorphic facies, and motor delay
606007POLR3KLeukodystrophy, hypomyelinating, 21
601778POLRMTCombined oxidative phosphorylation deficiency 55
176830POMCObesity, early-onset, susceptibility to, Multifactorial; Obesity, adrenal insufficiency, and red hair due to POMC deficiency
606822POMGNT1Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3; Retinitis pigmentosa 76; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
614828POMGNT2Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8
615247POMKMuscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
613386POMPProteasome-associated autoinflammatory syndrome 2; Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
607423POMT1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1
607439POMT2Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2
168820PON1Coronary artery spasm 2, susceptibility to; Organophosphate poisoning, sensitivity to; Coronary artery disease, susceptibility to; Microvascular complications of diabetes 5
602447PON2Coronary artery disease, susceptibility to
602486POP1Anauxetic dysplasia 2
604577POPDC1Muscular dystrophy, limb-girdle 25
605824POPDC3Muscular dystrophy, limb-girdle 26
124015PORAntley-Bixler syndrome with genital anomalies and disordered steroidogenesis; Disordered steroidogenesis due to cytochrome P450 oxidoreductase
300651PORCNFocal dermal hypoplasia, X-linked dominant
175850POROK2Porokeratosis 2, palmar, plantar, and disseminated
607728POROK4Porokeratosis 4, disseminated superficial actinic
612293POROK5Porokeratosis 5, disseminated superficial actinic
612353POROK6Porokeratosis 6, multiple types
606478POT1Tumor predisposition syndrome 3; Cerebroretinal microangiopathy with calcifications and cysts 3; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8
173110POU1F1Pituitary hormone deficiency, combined or isolated, 1
602480POU3F3Snijders Blok-Fisher syndrome
300039POU3F4Deafness, X-linked 2, X-linked recessive
601632POU4F1Ataxia, intention tremor, and hypotonia syndrome, childhood-onset
602460POU4F3Deafness 15/52
609062POU6F2Wilms tumor susceptibility-5, Somatic mutation
609988PPA2Sudden cardiac failure, alcohol-induced; Sudden cardiac failure, infantile
601487PPARGDiabetes, type 2; Insulin resistance, severe, digenic; Lipodystrophy, familial partial, type 3; Obesity, resistance to; Obesity, severe, Multifactorial; Carotid intimal medial thickness 1
609853PPCSCardiomyopathy, dilated, 2C
603141PPFIBP1Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
123841PPIBOsteogenesis imperfecta, type IX
601301PPIL1Pontocerebellar hypoplasia, type 14
611648PPIP5K2Deafness 100
614936PPKP1BKeratoderma, palmoplantar, punctate type IB
605100PPM1DBreast cancer, somatic; Jansen-de Vries syndrome
611065PPM1KMaple syrup urine disease, mild variant
600923PPOXVariegate porphyria, childhood-onset; Variegate porphyria
600590PPP1CBNoonan syndrome-like disorder with loose anagen hair 2
602021PPP1R12AGenitourinary and/or/brain malformation syndrome
607463PPP1R13LArrhythmogenic cardiomyopathy with variable ectodermal abnormalities
613257PPP1R15BMicrocephaly, short stature, and impaired glucose metabolism 2
604088PPP1R17Hypercholesterolemia, susceptibility to
618159PPP1R21Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
600917PPP1R3AInsulin resistance, severe, digenic
176915PPP2CAHouge-Janssens syndrome 3
605983PPP2R1AHouge-Janssens syndrome 2
603113PPP2R1BLung cancer, somatic
604325PPP2R2BSpinocerebellar ataxia 12
615902PPP2R3CSpermatogenic failure 36; Myoectodermal gonadal dysgenesis syndrome
601646PPP2R5DHouge-Janssens syndrome 1
114105PPP3CAArthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development; Developmental and epileptic encephalopathy 91
132100PPR1Photoparoxysmal response 1
609572PPR2Photoparoxysmal response 2
609573PPR3Photoparoxysmal response 3
600722PPT1Ceroid lipofuscinosis, neuronal, 1
300463PQBP1Renpenning syndrome, X-linked recessive
261800PRBNSPierre Robin syndrome
179755PRCCRenal cell carcinoma, papillary
610598PRCDRetinitis pigmentosa 36
618319PRDM10Birt-Hogg-Dube syndrome 2
616458PRDM12Neuropathy, hereditary sensory and autonomic, type VIII
616741PRDM13Pontocerebellar hypoplasia, type 17; Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism
605557PRDM16Left ventricular noncompaction 8; Cardiomyopathy, dilated, 1LL
614161PRDM5Brittle cornea syndrome 2
616982PRDM6Patent ductus arteriosus 3
616639PRDM8Epilepsy, progressive myoclonic, 10
176763PRDX1Methylmalonic aciduria and homocystinuria, cblC type, digenic
604769PRDX3Spinocerebellar ataxia 32; Corneal dystrophy, punctiform and polychromatic pre-Descemet
609557PREPLMyasthenic syndrome, congenital, 22
170280PRF1Hemophagocytic lymphohistiocytosis, familial, 2; Aplastic anemia; Lymphoma, non-Hodgkin
604283PRG4Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
608500PRICKLE1Epilepsy, progressive myoclonic 1B
300111PRICKLE3Leber hereditary optic neuropathy, modifier of, X-linked dominant
176635PRIM1Primordial dwarfism-immunodeficiency-lipodystrophy syndrome
615421PRIMPOLMyopia 22
601639PRKACACushing syndrome, ACTH-independent adrenal, somatic; Cardioacrofacial dysplasia 1
176892PRKACBCardioacrofacial dysplasia 2, Somatic mosaicism
176893PRKACGBleeding disorder, platelet-type, 19
602743PRKAG2Glycogen storage disease of heart, lethal congenital; Wolff-Parkinson-White syndrome; Cardiomyopathy, hypertrophic 6
604976PRKAG3Skeletal muscle glycogen content and metabolism QTL
188830PRKAR1APigmented nodular adrenocortical disease, primary, 1; Acrodysostosis 1, with or without hormone resistance; Adrenocortical tumor, somatic; Carney complex, type 1; Myxoma, intracardiac
176911PRKAR1BMarbach-Schaaf neurodevelopmental syndrome
176960PRKCAPituitary tumor, invasive
176977PRKCDAutoimmune lymphoproliferative syndrome, type III
176980PRKCGSpinocerebellar ataxia 14
605437PRKCHCerebral infarction, susceptibility to, Multifactorial
177060PRKCSHPolycystic liver disease 1
605435PRKD1Congenital heart defects and ectodermal dysplasia
600899PRKDCImmunodeficiency 26, with or without neurologic abnormalities
176894PRKG1Aortic aneurysm, familial thoracic 8
601591PRKG2Spondylometaphyseal dysplasia, Pagnamenta type; Acromesomelic dysplasia 4
602544PRKNAdenocarcinoma of lung, somatic; Parkinson disease, juvenile, type 2; Ovarian cancer, somatic
603424PRKRADystonia 16
176761PRLRMultiple fibroadenomas of the breast; Hyperprolactinemia
610087PRMT7Short stature, brachydactyly, intellectual developmental disability, and seizures
176640PRNPSpongiform encephalopathy with neuropsychiatric features; Gerstmann-Straussler disease; Huntington disease-like 1; Insomnia, fatal familial; Kuru, susceptibility to; Cerebral amyloid angiopathy, PRNP-related; Creutzfeldt-Jakob disease
612283PROCThrombophilia 3 due to protein C deficiency; Thrombophilia 3 due to protein C deficiency
606810PRODHSchizophrenia, susceptibility to, 4; Hyperprolinemia, type I
607002PROK2Hypogonadotropic hypogonadism 4 with or without anosmia
607123PROKR2Hypogonadotropic hypogonadism 3 with or without anosmia
604365PROM1Macular dystrophy, retinal, 2; Retinitis pigmentosa 41; Stargardt disease 4; Cone-rod dystrophy 12
601538PROP1Pituitary hormone deficiency, combined, 2
609947PRORPCombined oxidative phosphorylation deficiency 54
176880PROS1Thrombophilia 5 due to protein S deficiency; Thrombophilia 5 due to protein S deficiency
176895PROZProtein Z deficiency
607301PRPF3Retinitis pigmentosa 18
606419PRPF31Retinitis pigmentosa 11
607795PRPF4Retinitis pigmentosa 70
613979PRPF6Retinitis pigmentosa 60
607300PRPF8Retinitis pigmentosa 13
170710PRPHAmyotrophic lateral sclerosis, susceptibility to
179605PRPH2Macular dystrophy, patterned, 1; Choroidal dystrophy, central areolar 2; Retinitis punctata albescens; Leber congenital amaurosis 18, Digenic dominant; Macular dystrophy, vitelliform, 3; Retinitis pigmentosa 7 and digenic form, Digenic dominant
311850PRPS1Arts syndrome, X-linked recessive; Phosphoribosylpyrophosphate synthetase superactivity, X-linked recessive; Charcot-Marie-Tooth disease, X-linked recessive, 5, X-linked recessive; Deafness, X-linked 1, X-linked; Gout, PRPS-related, X-linked recessive
616633PRR12Neuroocular syndrome
614386PRRT2Convulsions, familial infantile, with paroxysmal choreoathetosis; Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1
167420PRRX1Agnathia-otocephaly complex
276000PRSS1Pancreatitis, hereditary
606709PRSS12Intellectual developmental disorder 1
601564PRSS2Pancreatitis, chronic, protection against
613858PRSS56Microphthalmia, isolated 6
617413PRUNE1Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
605725PRXCharcot-Marie-Tooth disease, type 4F; Dejerine-Sottas disease
176801PSAPCombined SAP deficiency; Krabbe disease, atypical; Metachromatic leukodystrophy due to SAP-b deficiency; Gaucher disease, atypical; Parkinson disease 24, susceptibility to
610936PSAT1Neu-Laxova syndrome 2; Phosphoserine aminotransferase deficiency
613806PSCCholangitis, primary sclerosing
104311PSEN1Pick disease; Dementia, frontotemporal; Acne inversa, familial, 3; Cardiomyopathy, dilated, 1U; Alzheimer disease, type 3, with or without spastic paraparesis
600759PSEN2Alzheimer disease-4; Cardiomyopathy, dilated, 1V
607632PSENENAcne inversa, familial, 2, with or without Dowling-Degos disease
177015PSKH1Cholestasis, progressive familial intrahepatic, 13
602855PSMA6Myocardial infarction, susceptibility to
602017PSMB1Neurodevelopmental disorder with microcephaly, hypotonia, and absent language
176847PSMB10Immunodeficiency 121 with autoinflammation; Proteasome-associated autoinflammatory syndrome 5
602177PSMB4Proteasome-associated autoinflammatory syndrome 3 and digenic forms
177046PSMB8Proteasome-associated autoinflammatory syndrome 1 and digenic forms
177045PSMB9Proteasome-associated autoinflammatory syndrome 6
602706PSMC1Birk-Aharoni syndrome
186852PSMC3Deafness, cataract, impaired intellectual development, and polyneuropathy
608665PSMC3IPOvarian dysgenesis 3
604450PSMD12Stankiewicz-Isidor syndrome
609702PSMG2Proteasome-associated autoinflammatory syndrome 4
613938PSMNSWParasomnia, sleepwalking type, Multifactorial
609454PSNP2Supranuclear palsy, progressive, 2
610898PSNP3Supranuclear palsy, progressive, 3
612410PSORS10Psoriasis susceptibility 10
612599PSORS11Psoriasis susceptibility 11
601454PSORS3Psoriasis susceptibility 3
603935PSORS4Psoriasis susceptibility 4
604316PSORS5Psoriasis susceptibility 5
605364PSORS6Psoriasis susceptibility 6
610707PSORS8Psoriasis susceptibility 8
607857PSORS9Psoriasis susceptibility 9
172480PSPHPhosphoserine phosphatase deficiency
616265PSS3Peeling skin syndrome 3
606347PSTPIP1Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia; Pyogenic sterile arthritis, pyoderma gangrenosum, and acne
614918PTCD3Combined oxidative phosphorylation deficiency 51
601309PTCH1Basal cell nevus syndrome 1; Basal cell carcinoma, somatic; Holoprosencephaly 7
603673PTCH2Medulloblastoma, somatic; Basal cell carcinoma, somatic
300828PTCHD1Autism, susceptibility to, X-linked 4, X-linked recessive
605642PTCPRNThyroid carcinoma, papillary, with papillary renal neoplasia
606817PTCRAImmunodeficiency 126
612792PTDSS1Lenz-Majewski hyperostotic dwarfism
601728PTENGlioma susceptibility 2; Meningioma; Cowden syndrome 1; Lhermitte-Duclos disease; Prostate cancer, somatic; Macrocephaly/autism syndrome
607194PTF1APancreatic and cerebellar agenesis; Pancreatic agenesis 2
604687PTGDRAsthma, susceptibility to, 1
176804PTGER2Asthma, aspirin-induced, susceptibility to
601699PTGISHypertension, essential, Multifactorial
168450PTHHypoparathyroidism, familial isolated 1
168468PTH1RMetaphyseal chondrodysplasia, Murk Jansen type; Eiken syndrome; Failure of tooth eruption, primary; Chondrodysplasia, Blomstrand type
168470PTHLHBrachydactyly, type E2
168860PTLAHPatella aplasia or hypoplasia
178300PTOS1Ptosis, hereditary congenital, 1
300245PTOS2Ptosis, hereditary congenital 2, X-linked dominant
600756PTPAParkinson disease 25 early-onset, with impaired intellectual development
176885PTPN1Insulin resistance, susceptibility to
176876PTPN11Noonan syndrome 1; LEOPARD syndrome 1; Metachondromatosis; Leukemia, juvenile myelomonocytic, somatic
600079PTPN12Colon cancer, somatic
603155PTPN14Choanal atresia and lymphedema
600716PTPN22Rheumatoid arthritis, susceptibility to; Systemic lupus erythematosus susceptibility to; Diabetes, type 1, susceptibility to
606584PTPN23Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
151460PTPRCImmunodeficiency 105, severe combined
179590PTPRFBreasts and/or nipples, aplasia or hypoplasia of, 2
600925PTPRJColon cancer, somatic; Thrombocytopenia 10
600579PTPRONephrotic syndrome, type 6
603317PTPRQDeafness 73; Deafness 84A
608625PTRH2Infantile-onset multisystem neurologic, endocrine, and pancreatic disease
617342PTRHD1Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities
612719PTSHyperphenylalaninemia, BH4-deficient, A
604819PUF60Verheij syndrome
607204PUM1Spinocerebellar ataxia 47; Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism
600473PURANeurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties
612795PURAQTL1Polyunsaturated fatty acids plasma level QTL1
608109PUS1Myopathy, lactic acidosis, and sideroblastic anemia 1
616283PUS3Neurodevelopmental disorder with microcephaly and gray sclerae
616261PUS7Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
608098PVNH3Periventricular nodular heterotopia 3
176780PVOP1Pelvic organ prolapse, susceptibility to, 1
613088PVOP2Pelvic organ prolapse, susceptibility to, 2
605158PXDNAnterior segment dysgenesis 7, with sclerocornea
179035PYCR1Cutis laxa, type IIIB; Cutis laxa, type IIB
616406PYCR2Leukodystrophy, hypomyelinating, 10
613741PYGLGlycogen storage disease VI
608455PYGMMcArdle disease
617220PYROXD1Myopathy, myofibrillar, 8
603727QARS1Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy
612676QDPRHyperphenylalaninemia, BH4-deficient, C
617387QRICH1Ververi-Brady syndrome
618304QRICH2Spermatogenic failure 35
617209QRSL1Combined oxidative phosphorylation deficiency 40
610141QTVQT interval, variation in
604198RAB11BNeurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
602207RAB18Warburg micro syndrome 3
606144RAB23Carpenter syndrome
603868RAB27AGriscelli syndrome, type 2
612994RAB28Cone-rod dystrophy 18
612906RAB32Parkinson disease 26, susceptibility to
605950RAB33BSmith-McCort dysplasia 2
610917RAB34Orofaciodigital syndrome XX
300774RAB39BIntellectual developmental disorder, X-linked 72, X-linked recessive; Waisman syndrome, X-linked recessive
602536RAB3GAP1Martsolf syndrome 2; Warburg micro syndrome 1
609275RAB3GAP2Martsolf syndrome 1; Warburg micro syndrome 2
619960RAB5IFCraniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2
602298RAB7ACharcot-Marie-Tooth disease, type 2B
618542RABL3Pancreatic cancer, susceptibility to, 5
602048RAC1Intellectual developmental disorder 48
602049RAC2Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis; Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia; Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia
602050RAC3Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
604980RACGAP1Anemia, congenital dyserythropoietic, type IIIb
606462RAD21Cornelia de Lange syndrome 4; Mungan syndrome
604040RAD50Nijmegen breakage syndrome-like disorder
179617RAD51Mirror movements 2; Breast cancer, susceptibility to, Somatic mutation; Fanconi anemia, complementation group R
602774RAD51CBreast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia, complementation group O
602954RAD51DBreast-ovarian cancer, familial, susceptibility to, 4
604289RAD54BColon cancer, somatic; Lymphoma, non-Hodgkin, somatic
603615RAD54LBreast cancer, invasive ductal, Somatic mutation; Adenocarcinoma, colonic, somatic; Lymphoma, non-Hodgkin, somatic
164760RAF1Cardiomyopathy, dilated, 1NN; Noonan syndrome 5; LEOPARD syndrome 2
179615RAG1Omenn syndrome; Severe combined immunodeficiency, B cell-negative; Combined cellular and humoral immune defects with granulomas; Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
179616RAG2Severe combined immunodeficiency, B cell-negative; Combined cellular and humoral immune defects with granulomas; Omenn syndrome
607642RAI1Smith-Magenis syndrome, Isolated cases
179550RALAHiatt-Neu-Cooper neurodevelopmental syndrome
608884RALGAPA1Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
601181RANBP2Encephalopathy, acute, infection-induced, 3, susceptibility to
179530RAP1BThrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies
179502RAP1GDS1Alfadhel syndrome
609530RAPGEF2Epilepsy, familial adult myoclonic, 7
601592RAPSNFetal akinesia deformation sequence 2; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency
180240RARALeukemia, acute promyelocytic
180220RARBMicrophthalmia, syndromic 12
107820RARS1Leukodystrophy, hypomyelinating, 9
611524RARS2Pontocerebellar hypoplasia, type 6
139150RASA1Capillary malformation-arteriovenous malformation 1; Basal cell carcinoma, somatic
603962RASGRP1Immunodeficiency 64
605577RASGRP2Bleeding disorder, platelet-type, 18
601881RAXMicrophthalmia, syndromic 16
610362RAX2Retinitis pigmentosa 95; Cone-rod dystrophy 11; Macular degeneration, age-related, 6
614041RB1Small cell cancer of the lung, somatic; Bladder cancer, somatic; Retinoblastoma, trilateral, Somatic mutation; Osteosarcoma, somatic; Retinoblastoma, Somatic mutation
606837RB1CC1Breast cancer, somatic
604124RBBP8Seckel syndrome 2; Jawad syndrome; Pancreatic carcinoma, somatic
610924RBCK1Polyglucosan body myopathy 1 with or without immunodeficiency
180203RBL2Brunet-Wagner neurodevelopmental syndrome
300080RBM10TARP syndrome, X-linked recessive
607179RBM12Schizophrenia 19, susceptibility to
613171RBM20Cardiomyopathy, dilated, 1DD
612074RBM28Alopecia, neurologic defects, and endocrinopathy syndrome
605313RBM8AThrombocytopenia-absent radius syndrome
300199RBMXIntellectual developmental disorder, X-linked syndromic, Gustavson type, X-linked recessive; Intellectual developmental disorder, X-linked syndromic, Shashi type, X-linked recessive
180290RBP3Retinitis pigmentosa 66
180250RBP4Microphthalmia/coloboma 10; Retinal dystrophy, iris coloboma, and comedogenic acne syndrome
147183RBPJAdams-Oliver syndrome 3
609511RBSNMyelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities; Kariminejad-Reversade neurodevelopmental syndrome
609424RC3H1Immune dysregulation and systemic hyperinflammation syndrome
607867RCBTB1Retinal dystrophy with or without extraocular anomalies
180020RCD1Retinal cone dystrophy-1
609578RCM2Cardiomyopathy, familial restrictive, 2
180040RD3Leber congenital amaurosis 12
607849RDH11Retinal dystrophy, juvenile cataracts, and short stature syndrome
608830RDH12Leber congenital amaurosis 13
601617RDH5Fundus albipunctatus
179410RDXDeafness 24
618421REC114Oocyte/zygote/embryo maturation arrest 10
600537RECQLRECON progeroid syndrome
603780RECQL4Baller-Gerold syndrome; Rothmund-Thomson syndrome, type 2; RAPADILINO syndrome
609139REEP1Neuronopathy, distal hereditary motor 6; Spastic paraplegia 31; Neuronopathy, distal hereditary motor 12
609347REEP2Spastic paraplegia 72A; Spastic paraplegia 72B
609346REEP6Retinitis pigmentosa 77
164910RELImmunodeficiency 92
164014RELAAutoinflammatory disease, familial, Behcet-like-3
604758RELBImmunodeficiency 53
600514RELNEpilepsy, familial temporal lobe, 7; Lissencephaly 2 (Norman-Roberts type)
611211RELTAmelogenesis imperfecta, type IIIC
179820RENRenal tubular dysgenesis; Hyperproreninemia; Tubulointerstitial kidney disease, 4
614825REPS1Neurodegeneration with brain iron accumulation 7
605226RERENeurodevelopmental disorder with or without anomalies of the brain, eye, or heart
600571RESTDeafness 27; Wilms tumor 6, susceptibility to; Fibromatosis, gingival, 5
164761RETHirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia IIA; Hirschsprung disease, protection against; Medullary thyroid carcinoma; Pheochromocytoma; Multiple endocrine neoplasia IIB
605565RETNHypertension, insulin resistance-related, susceptibility to; Diabetes mellitus, noninsulin-dependent, susceptibility to
613114RETREG1Neuropathy, hereditary sensory and autonomic, type IIB
102579RFC1Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
161900RFH1Nephropathy-hypertension
611908RFT1Congenital disorder of glycosylation, type In
614151RFWD3Fanconi anemia, complementation group W
601863RFX5MHC class II deficiency 5; MHC class II deficiency 3
612659RFX6Mitchell-Riley syndrome
612660RFX7Intellectual developmental disorder 71, with behavioral abnormalities
603200RFXANKMHC class II deficiency 2
601861RFXAPMHC class II deficiency 4
600342RGRRetinitis pigmentosa 44
603276RGS5Blood pressure regulation QTL, Multifactorial
604067RGS9Prolonged electroretinal response suppression 1
607814RGS9BPProlonged electroretinal response suppression 2
180297RHAGOverhydrated hereditary stomatocytosis; Anemia, hemolytic, Rh-null, regulator type
614404RHBDF2Tylosis with esophageal cancer
111700RHCERh-null disease, amorph type
111680RHDHemolytic disease of fetus and newborn, RH-induced, Isolated cases; Blood group, RH system
180380RHONight blindness, congenital stationary 1; Retinitis pigmentosa 4 or recessive; Retinitis punctata albescens
165390RHOAEctodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic
607352RHOBTB2Developmental and epileptic encephalopathy 64
602037RHOHEpidermodysplasia verruciformis, susceptibility to, 4
610354RIC1CATIFA syndrome
601499RIEG2Rieger syndrome, type 2
609631RIGISingleton-Merten syndrome 2
614092RILPL1Oculopharyngodistal myopathy 4
606630RIMS2Cone-rod synaptic disorder syndrome, congenital nonprogressive
610222RIN2Macrocephaly, alopecia, cutis laxa, and scoliosis
610089RINT1Infantile liver failure syndrome 3
603453RIPK1Immunodeficiency 57 with autoinflammation; Autoinflammation with episodic fever and lymphadenopathy
605706RIPK4CHAND syndrome; Popliteal pterygium syndrome, Bartsocas-Papas type 1
611410RIPOR2Deafness 21; Deafness 104
609891RIPPLY2Spondylocostal dysostosis 6
609591RIT1Noonan syndrome 8
180090RLBP1Bothnia retinal dystrophy; Newfoundland rod-cone dystrophy; Retinitis punctata albescens; Fundus albipunctatus
300379RLIMTonne-Kalscheuer syndrome, X-linked
102300RLS1Restless legs syndrome 1
608831RLS2Restless legs syndrome 2
610438RLS3Restless legs syndrome 3
610439RLS4Restless legs syndrome 4
611242RLS5Restless legs syndrome 5
611185RLS6Restless legs syndrome 6
612853RLS7Restless legs syndrome 7
615197RLS8Restless legs syndrome 8
600332RMD1Rippling muscle disease-1
614917RMND1Combined oxidative phosphorylation deficiency 11
157660RMRPAnauxetic dysplasia 1; Metaphyseal dysplasia without hypotrichosis; Cartilage-hair hypoplasia
604123RNASEH1Progressive external ophthalmoplegia with mitochondrial DNA deletions 2
606034RNASEH2AAicardi-Goutieres syndrome 4
610326RNASEH2BAicardi-Goutieres syndrome 2
610330RNASEH2CAicardi-Goutieres syndrome 3
180435RNASELProstate cancer 1
612944RNASET2Leukoencephalopathy, cystic, without megalencephaly
300951RNF113ATrichothiodystrophy 5, nonphotosensitive, X-linked
610432RNF125Tenorio syndrome
609247RNF13Developmental and epileptic encephalopathy 73
603046RNF139Renal cell carcinoma
612688RNF168RIDDLE syndrome
614649RNF170Ataxia, sensory, 1; Spastic paraplegia 85
608985RNF2Luo-Schoch-Yamamoto syndrome
612041RNF212Spermatogenic failure 62; Recombination rate QTL 1
613768RNF213Moyamoya disease 2, susceptibility to
609948RNF216Cerebellar ataxia and hypogonadotropic hypogonadism
616136RNF220Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy
612487RNF31Immunodeficiency 115 with autoinflammation
612482RNF43Sessile serrated polyposis cancer syndrome
604242RNF6Esophageal carcinoma, somatic
173320RNH1Encephalopathy, acute, infection-induced, susceptibility to, 12
618016RNPC3Pituitary hormone deficiency, combined or isolated, 7
620204RNU12CDAGS syndrome; Spinocerebellar ataxia 33
620823RNU4-2ReNU syndrome
601428RNU4ATACRoifman syndrome; Lowry-Wood syndrome; Microcephalic osteodysplastic primordial dwarfism, type I
617876RNU7-1Aicardi-Goutieres syndrome 9
602430ROBO1Pituitary hormone deficiency, combined or isolated, 8; Neurooculorenal syndrome; Nystagmus 8, congenital
602431ROBO2Vesicoureteral reflux 2
608630ROBO3Gaze palsy, familial horizontal, with progressive scoliosis, 1
607528ROBO4Aortic valve disease 3
614574ROGDIKohlschutter-Tonz syndrome
180721ROM1Retinitis pigmentosa 7, digenic form, Digenic dominant
602336ROR1Deafness 108
602337ROR2Brachydactyly, type B1; Robinow syndrome
600825RORAIntellectual developmental disorder with or without epilepsy or cerebellar ataxia
601972RORBEpilepsy, idiopathic generalized, susceptibility to, 15
602943RORCImmunodeficiency 42
603937RP1Retinitis pigmentosa 1
608581RP1L1Occult macular dystrophy; Retinitis pigmentosa 88
300757RP2Retinitis pigmentosa 2, X-linked
602594RP22Retinitis pigmentosa 22
300155RP24Retinitis pigmentosa 24
612165RP29Retinitis pigmentosa 29
300605RP34Retinitis pigmentosa 34
312612RP6Retinitis pigmentosa, X-linked recessive, 6, X-linked
614494RP63Retinitis pigmentosa 63
607331RP9Retinitis pigmentosa 9
179835RPA1Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6
180069RPE65Retinitis pigmentosa 20; Retinitis pigmentosa 87 with choroidal involvement; Leber congenital amaurosis 2
312610RPGRRetinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, X-linked; Cone-rod dystrophy, X-linked, 1, X-linked recessive; Retinitis pigmentosa 3, X-linked; Macular degeneration, X-linked atrophic, X-linked recessive
605446RPGRIP1Cone-rod dystrophy 13; Leber congenital amaurosis 6
610937RPGRIP1LJoubert syndrome 7; Meckel syndrome 5; COACH syndrome 3
180430RPIARibose 5-phosphate isomerase deficiency
312173RPL10Autism, susceptibility to, X-linked 5; Intellectual developmental disorder, X-linked syndromic 35, X-linked recessive
619655RPL10LSpermatogenic failure 63
604175RPL11Diamond-Blackfan anemia 7
113703RPL13Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
604174RPL15Diamond-Blackfan anemia 12
604179RPL18Diamond-Blackfan anemia 18
603636RPL21Hypotrichosis 12
603704RPL26Diamond-Blackfan anemia 11
607526RPL27Diamond-Blackfan anemia 16
618315RPL35Diamond-Blackfan anemia 19
180468RPL35ADiamond-Blackfan anemia 5
617416RPL3LCardiomyopathy, dilated, 2D
603634RPL5Diamond-Blackfan anemia 6
603632RPS10Diamond-Blackfan anemia 9
130620RPS14Macrocytic anemia, refractory, due to 5q deletion, somatic
603674RPS15ADiamond-Blackfan anemia 20
180472RPS17Diamond-Blackfan anemia 4
603474RPS19Diamond-Blackfan anemia 1
603683RPS23Brachycephaly, trichomegaly, and developmental delay
602412RPS24Diamond-blackfan anemia 3
603701RPS26Diamond-Blackfan anemia 10
603702RPS27Diamond-Blackfan anemia 17
603685RPS28Diamond Blackfan anemia 15 with mandibulofacial dysostosis
603633RPS29Diamond-Blackfan anemia 13
300075RPS6KA3Intellectual developmental disorder, X-linked 19, X-linked dominant; Coffin-Lowry syndrome, X-linked dominant
603658RPS7Diamond-Blackfan anemia 8
150370RPSAAsplenia, isolated congenital
400004RPYRetinitis pigmentosa, Y-linked, Y-linked
608267RRAGCLong-Olsen-Distelmaier syndrome
608268RRAGDHypomagnesemia 7, renal, with or without dilated cardiomyopathy
600098RRAS2Ovarian carcinoma; Noonan syndrome 12
300378RRDXRadial ray deficiency
609116RRISRespiratory rhythmicity in sleep
180410RRM1Progressive external ophthalmoplegia with mitochondrial DNA deletions 6
604712RRM2BMitochondrial DNA depletion syndrome 8B (MNGIE type); Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy); Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction; Progressive external ophthalmoplegia with mitochondrial DNA deletions 5
619449RRP7AMicrocephaly 28, primary
300839RS1Retinoschisis, X-linked recessive
605463RSCISRadiation sensitivity/chromosome instability syndrome
609314RSPH1Ciliary dyskinesia, primary, 24
615876RSPH3Ciliary dyskinesia, primary, 32
612647RSPH4ACiliary dyskinesia, primary, 11
612648RSPH9Ciliary dyskinesia, primary, 12
609595RSPO1Palmoplantar hyperkeratosis and true hermaphroditism; Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal
610575RSPO2Humerofemoral hypoplasia with radiotibial ray deficiency; Tetraamelia syndrome 2
610573RSPO4Anonychia congenita
616585RSPRY1Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type
613352RSRC1Intellectual developmental disorder 70
608833RTEL1Dyskeratosis congenita 4; Dyskeratosis congenita 5; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3
603183RTN2Neuronopathy, distal hereditary motor 11, with spasticity; Spastic paraplegia 12
610502RTN4IP1Optic atrophy 10 with or without ataxia, impaired intellectual development and seizures
605566RTN4RSchizophrenia, susceptibility to
610436RTTNMicrocephaly, short stature, and polymicrogyria with seizures
613516RUBCNSpinocerebellar ataxia 15
151385RUNX1Platelet disorder, familial, with associated myeloid malignancy; Leukemia, acute myeloid, Somatic mutation
600211RUNX2Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly; Cleidocranial dysplasia, forme fruste, with brachydactyly; Cleidocranial dysplasia, forme fruste, dental anomalies only; Cleidocranial dysplasia
611053RUSC2Intellectual developmental disorder 61
179450RWSRagweed sensitivity
605862RXYLT1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10
180901RYR1Congenital myopathy 1B; Congenital myopathy 1A, with susceptibility to malignant hyperthermia; King-Denborough syndrome; Malignant hyperthermia susceptibility 1
180902RYR2Ventricular tachycardia, catecholaminergic polymorphic, 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
180903RYR3Congenital myopathy 20
605111S1PR2Deafness 68
604490SACSSpastic ataxia, Charlevoix-Saguenay type
181031SAGRetinitis pigmentosa 47; Retinitis pigmentosa 96; Oguchi disease-1
602218SALL1Townes-Brocks syndrome 1; Townes-Brocks branchiootorenal-like syndrome
602219SALL2Coloboma, ocular
607343SALL4IVIC syndrome; Duane-radial ray syndrome
618073SAMD12Epilepsy, familial adult myoclonic, 1
620493SAMD7Macular dystrophy with or without cone dysfunction
610456SAMD9Tumoral calcinosis, familial, normophosphatemic; Monosomy 7 myelodysplasia and leukemia syndrome 2; MIRAGE syndrome
611170SAMD9LAtaxia-pancytopenia syndrome; Spinocerebellar ataxia 49; Monosomy 7 myelodysplasia and leukemia syndrome 1
606754SAMHD1Chilblain lupus 2; Aicardi-Goutieres syndrome 5
607690SAR1BChylomicron retention disease
604455SARDHSarcosinemia
607529SARS1Neurodevelopmental disorder with microcephaly, ataxia, and seizures
612804SARS2Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
607955SASH1Dyschromatosis universalis hereditaria 1; Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma
300441SASH3Immunodeficiency 102, X-linked recessive
609321SASS6Microcephaly 14, primary
602075SATB1den Hoed-de Boer-Voisin syndrome; Developmental delay with dysmorphic facies and dental anomalies
608148SATB2Glass syndrome
607444SBDSAplastic anemia, susceptibility to; Shwachman-Diamond syndrome 1
603560SBF1Charcot-Marie-Tooth disease, type 4B3
607697SBF2Charcot-Marie-Tooth disease, type 4B2
602286SC5DLathosterolosis
607458SCA18Spinocerebellar ataxia 18
613371SCA30Spinocerebellar ataxia 30
616023SCAF4Fliedner-Zweier syndrome
611611SCAPERIntellectual developmental disorder and retinitis pigmentosa
271250SCAR3Spinocerebellar ataxia 3
601040SCARB1High density lipoprotein cholesterol level QTL6
602257SCARB2Epilepsy, progressive myoclonic 4, with or without renal failure
613619SCARF2Van den Ende-Gupta syndrome
300703SCAX5Spinocerebellar ataxia, X-linked 5, X-linked recessive
608370SCD5Deafness 79
606531SCGB3A2Asthma, susceptibility to
182280SCLC1Small-cell cancer of lung
604427SCN10AEpisodic pain syndrome, familial, 2
604385SCN11AEpisodic pain syndrome, familial, 3; Neuropathy, hereditary sensory and autonomic, type VII
182389SCN1ADevelopmental and epileptic encephalopathy 6B, non-Dravet; Migraine, familial hemiplegic, 3; Dravet syndrome; Febrile seizures, familial, 3A; Generalized epilepsy with febrile seizures plus, type 2
600235SCN1BGeneralized epilepsy with febrile seizures plus, type 1; Developmental and epileptic encephalopathy 52; Cardiac conduction defect, nonspecific; Atrial fibrillation, familial, 13; Brugada syndrome 5
182390SCN2ASeizures, benign familial infantile, 3; Developmental and epileptic encephalopathy 11; Episodic ataxia, type 9
601327SCN2BAtrial fibrillation, familial, 14
182391SCN3AEpilepsy, familial focal, with variable foci 4; Developmental and epileptic encephalopathy 62
608214SCN3BAtrial fibrillation, familial, 16; Brugada syndrome 7
603967SCN4AParamyotonia congenita; Hyperkalemic periodic paralysis; Congenital myopathy 22B, severe fetal; Hypokalemic periodic paralysis, type 2; Myotonia congenita, atypical, acetazolamide-responsive; Myasthenic syndrome, congenital, 16; Congenital myopathy 22A, classic
608256SCN4BAtrial fibrillation, familial, 17; Long QT syndrome 10
600163SCN5AVentricular fibrillation, familial, 1; Heart block, progressive, type IA; Cardiomyopathy, dilated, 1E; Heart block, nonprogressive; Long QT syndrome 3; Sick sinus syndrome 1; Brugada syndrome 1; Atrial fibrillation, familial, 10; Sudden infant death syndrome, susceptibility to
600702SCN8AMyoclonus, familial, 2; Seizures, benign familial infantile, 5; Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy 13
603415SCN9AErythermalgia, primary; Insensitivity to pain, congenital; Small fiber neuropathy; Paroxysmal extreme pain disorder; Neuropathy, hereditary sensory and autonomic, type IID
608095SCNM1Orofaciodigital syndrome XIX
600228SCNN1APseudohypoaldosteronism, type IB1; Liddle syndrome 3; Bronchiectasis with or without elevated sweat chloride 2
600760SCNN1BBronchiectasis with or without elevated sweat chloride 1; Pseudohypoaldosteronism, type IB2; Liddle syndrome 1
600761SCNN1GBronchiectasis with or without elevated sweat chloride 3; Pseudohypoaldosteronism, type IB3; Liddle syndrome 2
603644SCO1Mitochondrial complex IV deficiency, nuclear type 4
604272SCO2Myopia 6; Mitochondrial complex IV deficiency, nuclear type 2
184755SCP2Leukoencephalopathy with dystonia and motor neuropathy
614708SCUBE3Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
607982SCYL1Spinocerebellar ataxia 21
616365SCYL2Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
181510SCZD1Schizophrenia
605419SCZD10Schizophrenia 10
608078SCZD11Schizophrenia
608543SCZD12Schizophrenia 12
613025SCZD13Schizophrenia, susceptibility to, 13
612361SCZD14Schizophrenia, susceptibility to, 14
603342SCZD2Schizophrenia
600511SCZD3Schizophrenia
603013SCZD6Schizophrenia
603176SCZD7Schizophrenia
603206SCZD8Schizophrenia
186357SDC3Obesity, association with, Multifactorial
613524SDCCAG8Senior-Loken syndrome 7; Bardet-Biedl syndrome 16
600857SDHACardiomyopathy, dilated, 1GG; Mitochondrial complex II deficiency, nuclear type 1; Neurodegeneration with ataxia and late-onset optic atrophy; Pheochromocytoma/paraganglioma syndrome 5
612848SDHAF1Mitochondrial complex II deficiency, nuclear type 2
613019SDHAF2Pheochromocytoma/paraganglioma syndrome 2
185470SDHBPheochromocytoma/paraganglioma syndrome 4; Mitochondrial complex II deficiency, nuclear type 4; Gastrointestinal stromal tumor, Isolated cases; Paraganglioma and gastric stromal sarcoma
602413SDHCPheochromocytoma/paraganglioma syndrome 3; Paraganglioma and gastric stromal sarcoma; Gastrointestinal stromal tumor, Isolated cases
602690SDHDPheochromocytoma/paraganglioma syndrome 1; Paraganglioma and gastric stromal sarcoma; Mitochondrial complex II deficiency, nuclear type 3
609769SDR9C7Ichthyosis, congenital 13
610511SEC23ACraniolenticulosutural dysplasia
610512SEC23BCowden syndrome 7; Dyserythropoietic anemia, congenital, type II
607186SEC24DCole-Carpenter syndrome 2
610257SEC31AHalperin-Birk syndrome
609213SEC61A1Immunodeficiency, common variable, 15; Neutropenia, severe congenital, 11; Tubulointerstitial kidney disease, 5
608648SEC63Polycystic liver disease 2
607693SECISBP2Thyroid hormone metabolism, abnormal, 1
604188SELENBP1Extraoral halitosis due to MTO deficiency
607915SELENOISpastic paraplegia 81
606210SELENONCongenital myopathy 3 with rigid spine
603961SEMA3AHypogonadotropic hypogonadism 16 with or without anosmia
607292SEMA4ARetinitis pigmentosa 35; Cone-rod dystrophy 10
608873SEMA6BEpilepsy, progressive myoclonic, 11
607961SEMA7ACholestasis, progressive familial intrahepatic, 11; Blood group, John-Milton-Hagen system
613009SEPSECSPontocerebellar hypoplasia type 2D
611562SEPTIN12Spermatogenic failure 10
604061SEPTIN9Amyotrophy, hereditary neuralgic
614725SERAC13-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
107400SERPINA1Hemorrhagic diathesis due to antithrombin Pittsburgh; Emphysema due to AAT deficiency; Emphysema-cirrhosis, due to AAT deficiency
107280SERPINA3Alpha-1-antichymotrypsin deficiency; Cerebrovascular disease, occlusive
122500SERPINA6Corticosteroid-binding globulin deficiency
314200SERPINA7Thyroxine-binding globulin QTL, X-linked
173321SERPINB6Deafness 91
603357SERPINB7Palmoplantar keratoderma, Nagashima type
601697SERPINB8Peeling skin syndrome 5
107300SERPINC1Thrombophilia 7 due to antithrombin III deficiency
142360SERPIND1Thrombophilia 10 due to heparin cofactor II deficiency
173360SERPINE1Plasminogen activator inhibitor-1 deficiency; Transcription of plasminogen activator inhibitor, modulator of
172860SERPINF1Osteogenesis imperfecta, type VI
613168SERPINF2Alpha-2-plasmin inhibitor deficiency
606860SERPING1Angioedema, hereditary, 1 and 2; Complement component 4, partial deficiency of
600943SERPINH1Preterm premature rupture of the membranes, susceptibility to, Multifactorial; Osteogenesis imperfecta, type X
602445SERPINI1Encephalopathy, familial, with neuroserpin inclusion bodies
600960SETIntellectual developmental disorder 58
611060SETBP1Schinzel-Giedion midface retraction syndrome; Intellectual developmental disorder 29
611052SETD1AEpilepsy, early-onset, 2, with or without developmental delay; Neurodevelopmental disorder with speech impairment and dysmorphic facies
611055SETD1BIntellectual developmental disorder with seizures and language delay
612778SETD2Luscan-Lumish syndrome; Intellectual developmental disorder 70; Rabin-Pappas syndrome
615743SETD5Intellectual developmental disorder 23
608465SETXSpinocerebellar ataxia, with axonal neuropathy 2; Amyotrophic lateral sclerosis 4, juvenile
111800SFBlood group, Stoltzfus system
605590SF3B1Myelodysplastic syndrome, somatic
605591SF3B2Craniofacial microsomia
605593SF3B4Acrofacial dysostosis 1, Nager type
606570SFRP4Pyle disease
178630SFTPA1Interstitial lung disease 1
178642SFTPA2Interstitial lung disease 2
178640SFTPBSurfactant metabolism dysfunction, pulmonary, 1
178620SFTPCSurfactant metabolism dysfunction, pulmonary, 2
615564SFXN4Combined oxidative phosphorylation deficiency 18
600119SGCAMuscular dystrophy, limb-girdle 3
600900SGCBMuscular dystrophy, limb-girdle 4
601411SGCDCardiomyopathy, dilated, 1L; Muscular dystrophy, limb-girdle 6
604149SGCEDystonia-11, myoclonic
608896SGCGMuscular dystrophy, limb-girdle 5
611574SGMS2Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia
609168SGO1Chronic atrial and intestinal dysrhythmia
603729SGPL1RENI syndrome
605270SGSHMucopolysaccharidosis type IIIA (Sanfilippo A)
605093SH2B3Thrombocythemia, somatic; Myelofibrosis, somatic; Erythrocytosis, somatic
300490SH2D1ALymphoproliferative syndrome, X-linked, 1, X-linked recessive
602104SH3BP2Cherubism
601768SH3GL1Leukemia, acute myeloid, Somatic mutation
300374SH3KBP1Immunodeficiency 61, X-linked recessive
613293SH3PXD2BFrank-ter Haar syndrome
608206SH3TC2Charcot-Marie-Tooth disease, type 4C; Mononeuropathy of the median nerve, mild
603290SHANK2Autism susceptibility 17
606230SHANK3Phelan-McDermid syndrome; Schizophrenia 15
611885SHARPINAutoinflammation with episodic fever and immune dysregulation
119100SHFL1Split-hand/foot malformation with long bone deficiency 1
610685SHFLD2Split-hand/foot malformation with long bone deficiency 2
313350SHFM2Split hand/foot malformation 2, X-linked
606708SHFM5Split-hand/foot malformation 5
600725SHHSingle median maxillary central incisor; Holoprosencephaly 3; Microphthalmia/coloboma 5
138450SHMT2Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
618038SHOC1Spermatogenic failure 75
602775SHOC2Noonan syndrome-like with loose anagen hair 1
312865SHOXShort stature, idiopathic familial; Leri-Weill dyschondrosteosis, Pseudoautosomal dominant; Langer mesomelic dysplasia, Pseudoautosomal recessive
400020SHOXShort stature, idiopathic familial; Langer mesomelic dysplasia, Pseudoautosomal recessive; Leri-Weill dyschondrosteosis, Pseudoautosomal dominant
605060SHPKSedoheptulokinase deficiency
613663SHQ1Neurodevelopmental disorder with dystonia and seizures; Dystonia 35, childhood-onset
609845SISucrase-isomaltase deficiency, congenital
610079SIAEAutoimmune disease, susceptibility to, 6
602212SIAH1Buratti-Harel syndrome
601978SIGMAR1Neuronopathy, distal hereditary motor 2; Amyotrophic lateral sclerosis 16, juvenile
605705SIK1Developmental and epileptic encephalopathy 30
614776SIK3Spondyloepimetaphyseal dysplasia, Krakow type
608005SIL1Marinesco-Sjogren syndrome
607776SIN3AWitteveen-Kolk syndrome
616655SIPA1L3Cataract 45
601205SIX1Deafness 23; Branchiootic syndrome 3
603714SIX3Schizencephaly; Holoprosencephaly 2
600963SIX5Branchiootorenal syndrome 2
606326SIX6Optic disc anomalies with retinal and/or macular dystrophy
164780SKIShprintzen-Goldberg syndrome
600478SKIC2Trichohepatoenteric syndrome 2
614589SKIC3Trichohepatoenteric syndrome 1
182396SLC10A1Hypercholanemia, familial 2
601295SLC10A2Bile acid malabsorption, primary, 1
611459SLC10A7Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
600266SLC11A1Mycobacterium tuberculosis, susceptibility to infection by; Buruli ulcer, susceptibility to
600523SLC11A2Anemia, hypochromic microcytic, with iron overload 1
600839SLC12A1Bartter syndrome, type 1
600840SLC12A2Kilquist syndrome; Delpire-McNeill syndrome; Deafness 78
600968SLC12A3Gitelman syndrome
606726SLC12A5Epilepsy, idiopathic generalized, susceptibility to, 14; Developmental and epileptic encephalopathy 34
604878SLC12A6Agenesis of the corpus callosum with peripheral neuropathy; Charcot-Marie-Tooth disease, axonal, type 2II
606411SLC13A3Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
608305SLC13A5Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta
613868SLC14A1Blood group, Kidd
600682SLC16A1Hyperinsulinemic hypoglycemia, familial, 7; Erythrocyte lactate transporter defect; Monocarboxylate transporter 1 deficiency
611910SLC16A12Cataract 47, juvenile, with microcornea
300095SLC16A2Allan-Herndon-Dudley syndrome, X-linked
611034SLC17A3Uric acid concentration, serum, QTL4; Gout susceptibility 4
604322SLC17A5Salla disease; Sialic acid storage disorder, infantile
607557SLC17A8Deafness 25
612107SLC17A9Porokeratosis 8, disseminated superficial actinic type
193001SLC18A2Parkinsonism-dystonia, infantile, 2
600336SLC18A3Myasthenic syndrome, congenital, 21, presynaptic
600424SLC19A1Immunodeficiency 114, folate-responsive; Megaloblastic anemia, folate-responsive
603941SLC19A2Thiamine-responsive megaloblastic anemia syndrome
606152SLC19A3Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type)
133550SLC1A1Dicarboxylic aminoaciduria; Schizophrenia susceptibility 18
600300SLC1A2Developmental and epileptic encephalopathy 41
600111SLC1A3Episodic ataxia, type 6
600229SLC1A4Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
158378SLC20A2Basal ganglia calcification, idiopathic, 1
607096SLC22A12Hypouricemia, renal
602631SLC22A18Breast cancer, somatic; Lung cancer, somatic; Rhabdomyosarcoma, somatic
604190SLC22A4Rheumatoid arthritis, susceptibility to
603377SLC22A5Carnitine deficiency, systemic primary
603617SLC24A1Night blindness, congenital stationary (complete), 1D
609840SLC24A4Skin/hair/eye pigmentation 6, blond/brown hair; Amelogenesis imperfecta, type IIA5; Skin/hair/eye pigmentation 6, blue/green eyes
609802SLC24A5Skin/hair/eye pigmentation 4, fair/dark skin; Albinism, oculocutaneous, type VI
190315SLC25A1Combined D-2- and L-2-hydroxyglutaric aciduria; Myasthenic syndrome, congenital, 23, presynaptic
606794SLC25A10Mitochondrial DNA depletion syndrome 19
604165SLC25A11Pheochromocytoma/paraganglioma syndrome 6
603667SLC25A12Developmental and epileptic encephalopathy 39
603859SLC25A13Citrullinemia, type II, neonatal-onset; Citrullinemia, adult-onset type II
603861SLC25A15Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
606521SLC25A19Microcephaly, Amish type; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)
613698SLC25A20Carnitine-acylcarnitine translocase deficiency
607571SLC25A21Mitochondrial DNA depletion syndrome 18
609302SLC25A22Developmental and epileptic encephalopathy 3
608744SLC25A24Fontaine progeroid syndrome
611037SLC25A26Combined oxidative phosphorylation deficiency 28
600370SLC25A3Mitochondrial phosphate carrier deficiency
138480SLC25A32Exercise intolerance, riboflavin-responsive
616149SLC25A36Hyperinsulinemic hypoglycemia, familial, 8
610819SLC25A38Anemia, sideroblastic, 2, pyridoxine-refractory
103220SLC25A4Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR; Progressive external ophthalmoplegia with mitochondrial DNA deletions 2; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD
610823SLC25A42Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
610826SLC25A46Neuropathy, hereditary motor and sensory, type VIB; Pontocerebellar hypoplasia, type 1E
610130SLC26A1Hypersulfaturia; Nephrolithiasis, calcium oxalate, 1
606718SLC26A2Epiphyseal dysplasia, multiple, 4; De la Chapelle dysplasia; Diastrophic dysplasia; Diastrophic dysplasia, broad bone-platyspondylic variant; Achondrogenesis Ib; Atelosteogenesis, type II
126650SLC26A3Diarrhea 1, secretory chloride, congenital
605646SLC26A4Deafness 4, with enlarged vestibular aqueduct; Pendred syndrome
604943SLC26A5Deafness 61
608480SLC26A8Spermatogenic failure 3
604194SLC27A4Ichthyosis prematurity syndrome
606207SLC28A1Uridine-cytidineuria
612373SLC29A3Histiocytosis-lymphadenopathy plus syndrome
138140SLC2A1Dystonia 9; GLUT1 deficiency syndrome 1, infantile onset, severe; Stomatin-deficient cryohydrocytosis with neurologic defects; Epilepsy, idiopathic generalized, susceptibility to, 12; GLUT1 deficiency syndrome 2, childhood onset
606145SLC2A10Arterial tortuosity syndrome
138160SLC2A2Fanconi-Bickel syndrome; Diabetes mellitus, noninsulin-dependent
606142SLC2A9Uric acid concentration, serum, QTL 2; Hypouricemia, renal, 2
611146SLC30A10Hypermanganesemia with dystonia 1
609617SLC30A2Zinc deficiency, transient neonatal
611149SLC30A7Ziegler-Huang syndrome
611145SLC30A8Diabetes mellitus, noninsulin-dependent, susceptibility to
604604SLC30A9Birk-Landau-Perez syndrome
603085SLC31A1Neurodegeneration and seizures due to copper transport defect
616440SLC32A1Generalized epilepsy with febrile seizures plus, type 12; Developmental and epileptic encephalopathy 114
603690SLC33A1Spastic paraplegia 42; Huppke-Brendel syndrome
182309SLC34A1Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2; Nephrolithiasis/osteoporosis, hypophosphatemic, 1
604217SLC34A2Pulmonary alveolar microlithiasis
609826SLC34A3Hypophosphatemic rickets with hypercalciuria
605634SLC35A1Congenital disorder of glycosylation, type IIf
314375SLC35A2Congenital disorder of glycosylation, type IIm, Somatic mosaicism, X-linked dominant
605632SLC35A3Arthrogryposis, impaired intellectual development, and seizures
610788SLC35B2Leukodystrophy, hypomyelinating, 26, with chondrodysplasia
605881SLC35C1Congenital disorder of glycosylation, type IIc
610804SLC35D1Schneckenbecken dysplasia
608331SLC36A2Iminoglycinuria, Digenic recessive; Hyperglycinuria
602671SLC37A4Glycogen storage disease Ib; Congenital disorder of glycosylation, type IIw; Glycogen storage disease Ic
604437SLC38A3Developmental and epileptic encephalopathy 102
615585SLC38A8Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis
608735SLC39A13Ehlers-Danlos syndrome, spondylodysplastic type, 3
608736SLC39A14Hyperostosis cranalis interna; Hypermanganesemia with dystonia 2
607059SLC39A4Acrodermatitis enteropathica
608730SLC39A5Myopia 24
601416SLC39A7Agammaglobulinemia 9
608732SLC39A8Congenital disorder of glycosylation, type IIn
104614SLC3A1Cystinuria
604653SLC40A1Hemochromatosis, type 4
610801SLC41A1Nephronophthisis-like nephropathy 2
606105SLC44A1Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
606107SLC44A4Deafness 72
605763SLC45A1Intellectual developmental disorder with neuropsychiatric features
606202SLC45A2Skin/hair/eye pigmentation 5, dark/light eyes; Skin/hair/eye pigmentation 5, black/nonblack hair; Albinism, oculocutaneous, type IV; Skin/hair/eye pigmentation 5, dark/fair skin
611672SLC46A1Folate malabsorption, hereditary
109270SLC4A1Blood group, Swann; Blood group, Wright; Distal renal tubular acidosis 1; Blood group, Waldner; Spherocytosis, type 4; Blood group, Froese; Distal renal tubular acidosis 4 with hemolytic anemia; Malaria, resistance to; Cryohydrocytosis; Ovalocytosis, SA type; Blood group, Diego
605556SLC4A10Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
610206SLC4A11Corneal endothelial dystrophy; Corneal dystrophy, Fuchs endothelial, 4; Corneal endothelial dystrophy and perceptive deafness
109280SLC4A2Osteopetrosis 9
106195SLC4A3Short QT syndrome 7
603345SLC4A4Proximal renal tubular acidosis-ocular anomaly syndrome
612084SLC51ACholestasis, progressive familial intrahepatic, 6
612085SLC51BBile acid malabsorption, primary, 2
607883SLC52A1Riboflavin deficiency
607882SLC52A2Brown-Vialetto-Van Laere syndrome 2
613350SLC52A3Fazio-Londe disease; Brown-Vialetto-Van Laere syndrome 1
182380SLC5A1Glucose/galactose malabsorption
182381SLC5A2Renal glucosuria
601843SLC5A5Thyroid dyshormonogenesis 1
604024SLC5A6Sodium-dependent multivitamin transporter deficiency; Peripheral motor neuropathy, childhood-onset, biotin-responsive
608761SLC5A7Neuronopathy, distal hereditary motor 7; Myasthenic syndrome, congenital, 20, presynaptic
137165SLC6A1Myoclonic-atonic epilepsy
610299SLC6A17Intellectual developmental disorder 48
608893SLC6A19Hartnup disorder
163970SLC6A2Orthostatic intolerance
126455SLC6A3Parkinsonism-dystonia, infantile, 1; Nicotine dependence, protection against
182138SLC6A4Obsessive-compulsive disorder; Anxiety-related personality traits
604159SLC6A5Hyperekplexia 3
186854SLC6A6Hypotaurinemic retinal degeneration and cardiomyopathy
300036SLC6A8Cerebral creatine deficiency syndrome 1, X-linked recessive
601019SLC6A9Glycine encephalopathy with normal serum glycine
615720SLC7A14Retinitis pigmentosa 68
619192SLC7A6OSEpilepsy, progressive myoclonic, 12
603593SLC7A7Lysinuric protein intolerance
604144SLC7A9Cystinuria
107310SLC9A1Lichtenstein-Knorr syndrome
182307SLC9A3Diarrhea 8, secretory sodium, congenital
300231SLC9A6Intellectual developmental disorder, X-linked syndromic, Christianson type, X-linked
300368SLC9A7Intellectual developmental disorder, X-linked 108, X-linked recessive
608396SLC9A9Autism susceptibility 16
604843SLCO1B1Hyperbilirubinemia, Rotor type, digenic, Digenic recessive
605495SLCO1B3Hyperbilirubinemia, Rotor type, digenic, Digenic recessive
601460SLCO2A1Hypertrophic osteoarthropathy, primary; PHOAR2-enteropathy syndrome
612254SLEB12Systemic lupus erythematosus, susceptibility to, 12
612378SLEB13Systemic lupus erythematosus, susceptibility to, 13
613145SLEB14Systemic lupus erythematosus, susceptibility to, 14
300809SLEB15Systemic lupus erythematosus, susceptibility to, 15
605480SLEB3Systemic lupus erythematosus, susceptibility to, 3
608437SLEB4Systemic lupus erythematosus, susceptibility to, 4
609903SLEB5Systemic lupus erythematosus, susceptibility to, 5
610065SLEB7Systemic lupus erythematosus, susceptibility to, 7
610066SLEB8Systemic lupus erythematosus, susceptibility to, 8
607279SLEH1Systemic lupus erythematosus with hemolytic anemia
607965SLEN1Systemic lupus erythematosus with nephritis, susceptibility to, 1
607966SLEN2Systemic lupus erythematosus with nephritis, susceptibility to, 2
607967SLEN3Systemic lupus erythematosus with nephritis, susceptibility to, 3
610348SLF2Atelis syndrome 1
614958SLFN14Bleeding disorder, platelet-type, 20
606711SLI1Specific language impairment QTL, 1, Multifactorial
606712SLI2Specific language impairment QTL, 2, Multifactorial
607134SLI3Specific language impairment QTL, 3
612514SLI4Specific language impairment 4
609678SLITRK1Tourette syndrome; Trichotillomania, Multifactorial
300561SLITRK2Intellectual developmental disorder, X-linked 111, X-linked
609681SLITRK6Deafness and myopia
606995SLSN3Senior-Loken syndrome 3
606119SLURP1Meleda disease
613278SLX4Fanconi anemia, complementation group P
181460SM1Schistosoma mansoni infection, susceptibility/resistance to
604201SM2Hepatic fibrosis susceptibility due to Schistosoma mansoni infection
601366SMAD2Loeys-Dietz syndrome 6; Congenital heart defects, multiple types, 8, with or without heterotaxy
603109SMAD3Loeys-Dietz syndrome 3
600993SMAD4Pancreatic cancer, somatic; Myhre syndrome; Polyposis, juvenile intestinal; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
602931SMAD6Aortic valve disease 2; Radioulnar synostosis, nonsyndromic; Craniosynostosis 7, susceptibility to
602932SMAD7Colorectal cancer, susceptibility to, 3
603295SMAD9Pulmonary hypertension, primary, 2
607088SMARNeuronopathy, distal hereditary motor 3
600014SMARCA2Nicolaides-Baraitser syndrome; Blepharophimosis-impaired intellectual development syndrome
603254SMARCA4Coffin-Siris syndrome 4; Rhabdoid tumor predisposition syndrome 2; Otosclerosis 12
612761SMARCAD1Basan syndrome; Huriez syndrome; Adermatoglyphia
606622SMARCAL1Schimke immunoosseous dysplasia
601607SMARCB1Rhabdoid tumors, somatic; Schwannomatosis-1, susceptibility to; Coffin-Siris syndrome 3; Rhabdoid tumor predisposition syndrome 1
601732SMARCC1Hydrocephalus, congenital, 5, susceptibility to
601734SMARCC2Coffin-Siris syndrome 8
601735SMARCD1Coffin-Siris syndrome 11
601736SMARCD2Specific granule deficiency 2
603111SMARCE1Meningioma, familial, susceptibility to; Coffin-Siris syndrome 5
300040SMC1ACornelia de Lange syndrome 2, X-linked dominant; Developmental and epileptic encephalopathy 85, with or without midline brain defects, X-linked dominant
606062SMC3Cornelia de Lange syndrome 3
609386SMC5Atelis syndrome 2
614982SMCHD1Facioscapulohumeral muscular dystrophy 2, digenic, Digenic dominant; Bosma arhinia microphthalmia syndrome
613175SMG8Alzahrani-Kuwahara syndrome
613176SMG9Heart and brain malformation syndrome; Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
615242SMIM1Blood group, Vel system
600354SMN1Spinal muscular atrophy-2; Spinal muscular atrophy-4; Spinal muscular atrophy-3; Spinal muscular atrophy-1
601627SMN2Spinal muscular atrophy, type III, modifier of
601500SMOPallister-Hall-like syndrome; Basal cell carcinoma, somatic; Curry-Jones syndrome, somatic mosaic
608488SMOC1Microphthalmia with limb anomalies
607223SMOC2Dentin dysplasia, type I, with microdontia and misshapen teeth
607608SMPD1Niemann-Pick disease, type B; Niemann-Pick disease, type A
610457SMPD4Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
300226SMPXMyopathy, distal, 7, adult-onset, X-linked, X-linked recessive; Deafness, X-linked 4, X-linked dominant
300105SMSIntellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, X-linked recessive
600322SNAP25Myasthenic syndrome, congenital, 18
604202SNAP29Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
602777SNAPC4Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
163890SNCADementia, Lewy body; Parkinson disease 1; Parkinson disease 4
602569SNCBDementia, Lewy body
610904SNF8Developmental and epileptic encephalopathy 115; Neurodevelopmental disorder plus optic atrophy
608241SNIP1Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures
619378SNORA31Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10
616663SNORD118Leukoencephalopathy, brain calcifications, and cysts
601664SNRNP200Retinitis pigmentosa 33
182282SNRPBCerebrocostomandibular syndrome
128260SNRPEHypotrichosis 11
601017SNTA1Long QT syndrome 12
607902SNUPNMuscular dystrophy, limb-girdle 29
614780SNX10Osteopetrosis 8
616105SNX14Spinocerebellar ataxia 20
613667SOBPImpaired intellectual development, anterior maxillary protrusion, and strabismus
603597SOCS1Autoinflammatory syndrome, familial, with or without immunodeficiency
147450SOD1Spastic tetraplegia and axial hypotonia, progressive; Amyotrophic lateral sclerosis 1
147460SOD2Microvascular complications of diabetes 6
185490SOD3Superoxide dismutase, elevated extracellular
610224SOHLH1Ovarian dysgenesis 5; Spermatogenic failure 32
182465SONZTTK syndrome
182500SORDNeuronopathy, distal hereditary motor 8
602458SORT1Low density lipoprotein cholesterol level QTL6
182530SOS1Noonan syndrome 4; Fibromatosis, gingival, 1
601247SOS2Noonan syndrome 9
605740SOSTSclerosteosis 1; Craniodiaphyseal dysplasia
602229SOX10Waardenburg syndrome, type 4C; PCWH syndrome; Waardenburg syndrome, type 2E, with or without neurologic involvement
600898SOX11Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
610928SOX17Vesicoureteral reflux 3
601618SOX18Hypotrichosis-lymphedema-telangiectasia syndrome; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
184429SOX2Optic nerve hypoplasia and abnormalities of the central nervous system; Microphthalmia, syndromic 3
313430SOX3Intellectual developmental disorder, X-linked, with isolated growth hormone deficiency; Panhypopituitarism, X-linked, X-linked
184430SOX4Coffin-Siris syndrome 10
604975SOX5Lamb-Shaffer syndrome
607257SOX6Tolchin-Le Caignec syndrome
608160SOX9Campomelic dysplasia with autosomal sex reversal; Acampomelic campomelic dysplasia; Campomelic dysplasia
604457SP110Mycobacterium tuberculosis, susceptibility to; Hepatic venoocclusive disease with immunodeficiency
608613SP6Amelogenesis imperfecta, type IK
606633SP7Osteogenesis imperfecta, type XII
612739SPACA1Spermatogenic failure 85
603395SPAG1Ciliary dyskinesia, primary, 28
616554SPAG17Spermatogenic failure 55
182120SPARCOsteogenesis imperfecta, type XVII
607111SPARTTroyer syndrome
604277SPASTSpastic paraplegia 4
609856SPATA16Spermatogenic failure 6
609868SPATA7Leber congenital amaurosis 3; Retinitis pigmentosa 94, variable age at onset
610234SPD3Synpolydactyly 3
183840SPDA2Spondyloarthropathy, susceptibility to, 2
613238SPDA3Spondyloarthropathy, susceptibility to, 3
184100SPDTSpondyloepiphyseal dysplasia tarda
614140SPECC1LTeebi hypertelorism syndrome 1; Facial clefting, oblique, 1
610172SPEF2Spermatogenic failure 43
615950SPEGCentronuclear myopathy 5
613484SPENRadio-Tartaglia syndrome
610844SPG11Amyotrophic lateral sclerosis 5, juvenile; Charcot-Marie-Tooth disease, axonal, type 2X; Spastic paraplegia 11
605229SPG14Spastic paraplegia 14
300266SPG16Spastic paraplegia 16, X-linked, complicated, X-linked recessive
607152SPG19Spastic paraplegia 19
608181SPG21Mast syndrome
607584SPG24Spastic paraplegia 24
608220SPG25Spastic paraplegia 25
609041SPG27Spastic paraplegia 27
609727SPG29Spastic paraplegia 29
611252SPG32Spastic paraplegia 32
300750SPG34Spastic paraplegia 34, X-linked, X-linked recessive
613096SPG36Spastic paraplegia 36
611945SPG37Spastic paraplegia 37
612335SPG38Spastic paraplegia 38
613364SPG41Spastic paraplegia 41
602783SPG7Spastic paraplegia 7
165170SPI1Agammaglobulinemia 10
615384SPIDROvarian dysgenesis 9
301113SPIN4Lui-Jee-Baron syndrome, X-linked
167790SPINK1Tropical calcific pancreatitis; Pancreatitis, hereditary; Fibrocalculous pancreatic diabetes, susceptibility to
605753SPINK2Spermatogenic failure 29
605010SPINK5Netherton syndrome
605124SPINT2Diarrhea 3, secretory sodium, congenital, syndromic
612584SPNS2Deafness 115
602650SPOPNabais Sa-de Vries syndrome, type 1; Nabais Sa-de Vries syndrome, type 2
608238SPPL2AImmunodeficiency 86, mycobacteriosis
182125SPRDystonia, dopa-responsive, due to sepiapterin reductase deficiency, Autosomal dominant
609291SPRED1Legius syndrome
609292SPRED2Noonan syndrome 14
616086SPRTNRuijs-Aalfs syndrome
602466SPRY2IgA nephropathy, susceptibility to, 3
607984SPRY4Hypogonadotropic hypogonadism 17 with or without anosmia
182860SPTA1Spherocytosis, type 3; Elliptocytosis-2; Pyropoikilocytosis
182810SPTAN1Developmental delay with or without epilepsy; Developmental and epileptic encephalopathy 5; Spastic paraplegia 91, with or without cerebellar ataxia; Neuronopathy, distal hereditary motor 11
182870SPTBAnemia, neonatal hemolytic, fatal or near-fatal; Elliptocytosis-3; Spherocytosis, type 2
182790SPTBN1Developmental delay, impaired speech, and behavioral abnormalities
604985SPTBN2Spinocerebellar ataxia 5; Spinocerebellar ataxia 14
606214SPTBN4Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
605712SPTLC1Amyotrophic lateral sclerosis 27, juvenile; Neuropathy, hereditary sensory and autonomic, type IA
605713SPTLC2Neuropathy, hereditary sensory and autonomic, type IC
613540SPTSSASpastic paraplegia 90A; Spastic paraplegia 90B
617658SQORSulfide:quinone oxidoreductase deficiency
601530SQSTM1Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3; Myopathy, distal, with rimmed vacuoles; Paget disease of bone 3
611003SQTL1Smoking as a quantitative trait locus 1
611004SQTL2Smoking as a quantitative trait locus 2
190090SRCThrombocytopenia 6; Colon cancer, advanced, somatic
611421SRCAPDevelopmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities; Floating-Harbor syndrome
607306SRD5A2Pseudovaginal perineoscrotal hypospadias
611715SRD5A3Kahrizi syndrome; Congenital disorder of glycosylation, type Iq
184756SREBF1Ichthyosis, follicular, with atrichia and photophobia syndrome 2; Mucoepithelial dysplasia, hereditary
606523SRGAP1Thyroid cancer, nonmedullary, 2, Somatic mutation
604857SRP54Neutropenia, severe congenital, 8
604858SRP68Neutropenia, severe congenital, 10
602122SRP72Bone marrow failure syndrome 1
300642SRPX2Rolandic epilepsy, impaired intellectual development, and speech dyspraxia
606032SRRM2Intellectual developmental disorder 72
600812SRSF1Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
480000SRY46XY sex reversal 1, Y-linked; 46XX sex reversal 1, X-linked dominant
600192SS18Sarcoma, synovial
612388SS3Sarcoidosis, susceptibility to, 3
600439SSBP1Optic atrophy 13 with retinal and foveal abnormalities
608445SSDSpeech-sound disorder
300090SSR4Congenital disorder of glycosylation, type Iy, X-linked recessive
312820SSX1Spermatogenic failure, X-linked, 5, X-linked
300192SSX2Sarcoma, synovial
606797ST14Ichthyosis, congenital 11
191181ST3Cervical carcinoma
606494ST3GAL3Developmental and epileptic encephalopathy 15; Intellectual developmental disorder 12
604402ST3GAL5Salt and pepper developmental regression syndrome
608560STAB1Hyperferritinemia
615521STAC3Congenital myopathy 13
604358STAG1Intellectual developmental disorder 47
300826STAG2Holoprosencephaly 13, X-linked, X-linked dominant, X-linked recessive; Mullegama-Klein-Martinez syndrome, X-linked
608489STAG3Spermatogenic failure 61; Premature ovarian failure 8
606247STAMBPMicrocephaly-capillary malformation syndrome
600617STARLipoid adrenal hyperplasia
616712STARD7Epilepsy, familial adult myoclonic, 2
600555STAT1Immunodeficiency 31C, chronic mucocutaneous candidiasis; Immunodeficiency 31A, mycobacteriosis; Immunodeficiency 31B, mycobacterial and viral infections
600556STAT2Pseudo-TORCH syndrome 3; Immunodeficiency 44
102582STAT3Hyper-IgE syndrome 1, with recurrent infections; Autoimmune disease, multisystem, infantile-onset, 1
600558STAT4Disabling pansclerotic morphea of childhood; Systemic lupus erythematosus, susceptibility to, 11
604260STAT5BGrowth hormone insensitivity with immune dysregulation 1; Growth hormone insensitivity with immune dysregulation 2; Leukemia, acute promyelocytic, somatic
601512STAT6Hyper-IgE syndrome 6, with recurrent infections
185100STBMS1Strabismus, susceptibility to, 1
609671STEAP3Anemia, hypochromic microcytic, with iron overload 2
301012STEEP1Intellectual developmental disorder, X-linked 107, X-linked
610926STHAG5Tooth agenesis, selective, 5
181590STILMicrocephaly 7, primary
605921STIM1Myopathy, tubular aggregate, 1; Stormorken syndrome; Immunodeficiency 10
612374STING1STING-associated vasculopathy, infantile-onset
602216STK11Melanoma, malignant, somatic; Pancreatic cancer, somatic; Peutz-Jeghers syndrome; Testicular tumor, somatic
607670STK33Spermatogenic failure 93
607652STK36Ciliary dyskinesia, primary, 46
604965STK4T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations
613128STN1Cerebroretinal microangiopathy with calcifications and cysts 2
609397STOX1Preeclampsia/eclampsia 4
612221STQTL10Stature QTL 10
612223STQTL11Stature QTL 11
612224STQTL12Stature QTL 12
612226STQTL13Stature QTL 13
612228STQTL14Stature QTL 14
612578STQTL15Stature QTL 15
612579STQTL16Stature QTL 16
612737STQTL17Stature QTL 17
612892STQTL18Stature QTL 18
612893STQTL19Stature QTL 19
606256STQTL2Stature QTL 2
612894STQTL20Stature QTL 20
613440STQTL21Stature QTL 21
613547STQTL22Stature QTL 22
613548STQTL23Stature QTL 23
613549STQTL24Stature QTL 24
606257STQTL3Stature QTL 3
606258STQTL4Stature QTL 4
608982STQTL5Stature QTL 5
300591STQTL6Stature QTL 6
609822STQTL7Stature QTL 7
610114STQTL8Stature QTL 8
610745STRA6Microphthalmia, syndromic 9; Microphthalmia, isolated, with coloboma 8
608626STRADAPolyhydramnios, megalencephaly, and symptomatic epilepsy
606440STRCDeafness 16
620900STRTSHypothyroidism, congenital, nongoitrous, 3
300747STSIchthyosis, X-linked, X-linked recessive
601134STT3ACongenital disorder of glycosylation, type Iw; Congenital disorder of glycosylation, type Iw
608605STT3BCongenital disorder of glycosylation, type Ix
607207STUB1Spinocerebellar ataxia 48; Spinocerebellar ataxia 16
609261STUT2Stuttering, familial persistent, 2
614655STUT3Stuttering, familial persistent, 3
614668STUT4Stuttering, familial persistent, 4
605014STX11Hemophagocytic lymphohistiocytosis, familial, 4
603666STX16Pseudohypoparathyroidism Ib
601485STX1BGeneralized epilepsy with febrile seizures plus, type 9
600876STX3Retinal dystrophy and microvillus inclusion disease; Diarrhea 12, with microvillus atrophy
186591STX4Deafness 123
603189STX5Congenital disorder of glycosylation, type IIaa
602926STXBP1Developmental and epileptic encephalopathy 4
601717STXBP2Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease
603921SUCLA2Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
611224SUCLG1Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
607035SUFUMeningioma, familial, susceptibility to; Joubert syndrome 32; Basal cell nevus syndrome 2; Medulloblastoma, Somatic mutation
609187SUGCTGlutaric aciduria III
604125SULT2B1Ichthyosis, congenital 14
607939SUMF1Multiple sulfatase deficiency
601912SUMO1Orofacial cleft 10, Isolated cases
608829SUMO4Diabetes mellitus, insulin-dependent, 5
613942SUN5Spermatogenic failure 16
606887SUOXSulfite oxidase deficiency
605012SUPT16HNeurodevelopmental disorder with dysmorphic facies and thin corpus callosum
185620SURF1Charcot-Marie-Tooth disease, type 4K; Mitochondrial complex IV deficiency, nuclear type 1
606245SUZ12Imagawa-Matsumoto syndrome
185860SV2ADevelopmental and epileptic encephalopathy 113
617853SVBPNeurodevelopmental disorder with ataxia, hypotonia, and microcephaly
604126SVILMyofibrillar myopathy 10
613498SXGQTL1Sex hormone-binding globulin circulating level QTL 1
300179SXI2X inactivation, familial skewed, 2
611486SYCE1Spermatogenic failure 15; Premature ovarian failure 12
604105SYCP2Spermatogenic failure 1
616799SYCP2LPremature ovarian failure 24
604759SYCP3Pregnancy loss, recurrent, 4; Spermatogenic failure 4
600085SYKImmunodeficiency 82 with systemic inflammation
313440SYN1Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders, X-linked; Intellectual developmental disorder, X-linked 50, X-linked
600755SYN2Schizophrenia, susceptibility to
608441SYNE1Arthrogryposis multiplex congenita 3, myogenic type; Emery-Dreifuss muscular dystrophy 4; Spinocerebellar ataxia 8
608442SYNE2Emery-Dreifuss muscular dystrophy 5
615535SYNE4Deafness 76
603384SYNGAP1Intellectual developmental disorder 5
604297SYNJ1Parkinson disease 20, early-onset; Developmental and epileptic encephalopathy 53
612759SYNSTHSynesthesia
313475SYPIntellectual developmental disorder, X-linked 96, X-linked recessive
185605SYT1Baker-Gordon syndrome
610949SYT14Spinocerebellar ataxia 11
600104SYT2Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy; Myasthenic syndrome, congenital, 7B, presynaptic
615463SZT2Developmental and epileptic encephalopathy 18
605101TAB2Congenital heart defects, nonsyndromic, 2
162330TAC3Hypogonadotropic hypogonadism 10 with or without anosmia
612958TACO1Mitochondrial complex IV deficiency, nuclear type 8
162332TACR3Hypogonadotropic hypogonadism 11 with or without anosmia
137290TACSTD2Corneal dystrophy, gelatinous drop-like
313650TAF1Intellectual developmental disorder, X-linked syndromic 33, X-linked recessive; Dystonia-Parkinsonism, X-linked, X-linked recessive
600774TAF13Intellectual developmental disorder 60
601574TAF15Chondrosarcoma, extraskeletal myxoid
604912TAF2Intellectual developmental disorder 40
601796TAF4Intellectual developmental disorder 73
601689TAF4BSpermatogenic failure 13
602955TAF6Alazami-Yuan syndrome
609514TAF8Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy
300394TAFAZZINBarth syndrome, X-linked recessive
187040TAL1Leukemia, T-cell acute lymphocytic, somatic
186855TAL2Leukemia, T-cell acute lymphocytic, somatic
602063TALDO1Transaldolase deficiency
159595TAMLeukemia, transient, of Down syndrome
614948TAMM41Combined oxidative phosphorylation deficiency 56
615047TANC2Intellectual developmental disorder with autistic features and language delay, with or without seizures
616830TANGO2Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
610266TAOK1Developmental delay with or without intellectual impairment or behavioral abnormalities
170260TAP1MHC class I deficiency 1
170261TAP2MHC class I deficiency 2
601962TAPBPMHC class I deficiency 3
612758TAPT1Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type
106700TAPVR1Total anomalous pulmonary venous return
605078TARDBPFrontotemporal lobar degeneration, TARDBP-related; Amyotrophic lateral sclerosis 10, with or without FTD
187790TARS1Trichothiodystrophy 7, nonphotosensitive
612805TARS2Combined oxidative phosphorylation deficiency 21
604867TAS2R16Alcohol dependence, susceptibility to, Multifactorial; Beta-glycopyranoside tasting
607751TAS2R38Phenylthiocarbamide tasting
608270TASP1Suleiman-El-Hattab syndrome
613018TATTyrosinemia, type II
611663TBC1D20Warburg micro syndrome 4
617687TBC1D23Pontocerebellar hypoplasia, type 11
613577TBC1D24Deafness 86; Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer’s cramp; Myoclonic epilepsy, infantile, familial; Deafness 65; Developmental and epileptic encephalopathy 16; DOORS syndrome
619152TBC1D2BNeurodevelopmental disorder with seizures and gingival overgrowth
612465TBC1D4Diabetes mellitus, noninsulin-dependent, 5
612655TBC1D7Macrocephaly/megalencephaly syndrome
301027TBC1D8BNephrotic syndrome, type 20, X-linked
604649TBCDEncephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum
604934TBCEKenny-Caffey syndrome, type 1; Hypoparathyroidism-retardation-dysmorphism syndrome; Encephalopathy, progressive, with amyotrophy and optic atrophy
616899TBCKHypotonia, infantile, with psychomotor retardation and characteristic facies 3
604834TBK1Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8; Frontotemporal dementia and/or amyotrophic lateral sclerosis 4; Autoinflammation with arthritis and vasculitis
300196TBL1XHypothyroidism, congenital, nongoitrous, 8, X-linked
608628TBL1XR1Intellectual developmental disorder 41; Pierpont syndrome
400033TBL1YDeafness, Y-linked 2, Y-linked
600075TBPSpinocerebellar ataxia 17; Parkinson disease, susceptibility to, Multifactorial
604616TBR1Intellectual developmental disorder with autism and speech delay
602054TBX1Tetralogy of Fallot; DiGeorge syndrome; Conotruncal anomaly face syndrome; Velocardiofacial syndrome
604127TBX15Cousin syndrome
604613TBX18Congenital anomalies of kidney and urinary tract 2
604614TBX19Adrenocorticotropic hormone deficiency
600747TBX2Vertebral anomalies and variable endocrine and T-cell dysfunction
606061TBX20Atrial septal defect 4
604895TBX21Asthma and nasal polyps; Immunodeficiency 88; Asthma, aspirin-induced, susceptibility to
300307TBX22Cleft palate with ankyloglossia, X-linked; Abruzzo-Erickson syndrome, X-linked
601621TBX3Ulnar-mammary syndrome
601719TBX4Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension; Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome
601620TBX5Holt-Oram syndrome
602427TBX6Spondylocostal dysostosis 5
188070TBXA2RBleeding disorder, platelet-type, 13, susceptibility to
274180TBXAS1Ghosal hematodiaphyseal syndrome
601397TBXTSacral agenesis with vertebral anomalies; Neural tube defects, susceptibility to
604488TCAPCardiomyopathy, hypertrophic, 25; Muscular dystrophy, limb-girdle 7
300237TCEAL1Hijazi-Reis syndrome, X-linked dominant
600480TCF12Craniosynostosis 3; Hypogonadotropic hypogonadism 26 with or without anosmia
603107TCF20Developmental delay with variable intellectual impairment and behavioral abnormalities
147141TCF3Agammaglobulinemia 8B; Agammaglobulinemia 8A
602272TCF4Pitt-Hopkins syndrome; Corneal dystrophy, Fuchs endothelial, 3
602228TCF7L2Diabetes mellitus, type 2, susceptibility to
190370TCHHUncombable hair syndrome 3
604592TCIRG1Osteopetrosis 1
186960TCL1ALeukemia/lymphoma, T-cell
603769TCL1BLeukemia/lymphoma, T-cell
613441TCN2Transcobalamin II deficiency
603386TCOThyroid carcinoma, nonmedullary, with cell oxyphilia
606847TCOF1Treacher Collins syndrome 1
609863TCTN1Joubert syndrome 13
613846TCTN2Joubert syndrome 24; Meckel syndrome 8
613847TCTN3Joubert syndrome 18; Orofaciodigital syndrome IV
191070TDO2Hypertryptophanemia
607198TDP1Spinocerebellar ataxia, with axonal neuropathy 1
605764TDP2Spinocerebellar ataxia 23
611258TDRD7Cataract 36
617963TDRD9Spermatogenic failure 30
189967TEAD1Sveinsson chorioretinal atrophy
227050TECTransient erythroblastopenia of childhood
615000TECPR2Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay
610057TECRIntellectual developmental disorder 14
617242TECRLVentricular tachycardia, catecholaminergic polymorphic, 3
602574TECTADeafness 8/12; Deafness 21
616422TEFMCombined oxidative phosphorylation deficiency 58
600221TEKVenous malformations, multiple cutaneous and mucosal; Glaucoma 3, primary congenital, E
612683TEKT3Spermatogenic failure 81
187260TELAB1Telangiectasia, hereditary benign
609113TELMTelomere length, mean leukocyte
611140TELO2You-Hoover-Fong syndrome
610083TENM3Microphthalmia, syndromic 15; Microphthalmia/coloboma 9
610084TENM4Essential tremor, hereditary, 5
611357TENT5AOsteogenesis imperfecta, type XVIII
617332TERB1Spermatogenic failure 60
617131TERB2Spermatogenic failure 59
602322TERCPulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2; Dyskeratosis congenita 1
187270TERTDyskeratosis congenita 2; Dyskeratosis congenita 4; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1; Melanoma, cutaneous malignant, 9; Leukemia, acute myeloid, Somatic mutation
612839TET2Myelodysplastic syndrome, somatic; Immunodeficiency 75
613555TET3Beck-Fahrner syndrome
300311TEX11Spermatogenic failure, X-linked 2, X-linked recessive
605792TEX14Spermatogenic failure 23
605795TEX15Spermatogenic failure 25
190000TFAtransferrinemia
600438TFAMMitochondrial DNA depletion syndrome 15 (hepatocerebral type)
107580TFAP2ABranchiooculofacial syndrome
601601TFAP2BPatent ductus arteriosus 2; Char syndrome
314310TFE3Intellectual developmental disorder, X-linked syndromic, with pigmentary mosaicism and coarse facies, X-linked; Renal cell carcinoma, papillary, 1
602498TFGSpastic paraplegia 57; Hereditary motor and sensory neuropathy, Okinawa type
614193TFQTL2Transferrin serum level quantitative trait locus 2
604720TFR2Hemochromatosis, type 3
190010TFRCImmunodeficiency 46
188450TGAutoimmune thyroid disease, susceptibility to, 3; Thyroid dyshormonogenesis 3
300228TGCT1Testicular germ cell tumor
616146TGDSCatel-Manzke syndrome
190180TGFB1Inflammatory bowel disease, immunodeficiency, and encephalopathy; Camurati-Engelmann disease; Cystic fibrosis lung disease, modifier of
190220TGFB2Loeys-Dietz syndrome 4
190230TGFB3Arrhythmogenic right ventricular dysplasia 1; Loeys-Dietz syndrome 5
601692TGFBICorneal dystrophy, Avellino type; Corneal dystrophy, Reis-Bucklers type; Corneal dystrophy, Thiel-Behnke type; Corneal dystrophy, Groenouw type I; Corneal dystrophy, epithelial basement membrane; Corneal dystrophy, lattice type I; Corneal dystrophy, lattice type IIIA
190181TGFBR1Multiple self-healing squamous epithelioma, susceptibility to; Loeys-Dietz syndrome 1
190182TGFBR2Loeys-Dietz syndrome 2; Colorectal cancer, hereditary nonpolyposis, type 6; Esophageal cancer, somatic
602630TGIF1Holoprosencephaly 4
190195TGM1Ichthyosis, congenital 1
600238TGM3Uncombable hair syndrome 2
603805TGM5Peeling skin syndrome 2
613900TGM6Spinocerebellar ataxia 35
191290THSegawa syndrome, recessive
609520THAP1Dystonia 6, torsion
609119THAP11Methylmalonic aciduria and homocystinuria, cblL type; Spinocerebellar ataxia 51
313850THASThoracoabdominal syndrome, X-linked
188040THBDThrombophilia 12 due to thrombomodulin defect; Hemolytic uremic syndrome, atypical, susceptibility to, 6
188061THBS2Ehlers-Danlos syndrome, classic-like, 3; Lumbar disc herniation, susceptibility to
618802THG1LSpinocerebellar ataxia 28
275220THMATibial hemimelia
606930THOC1Deafness 86
300395THOC2Intellectual developmental disorder, X-linked 12, X-linked recessive
615403THOC6Beaulieu-Boycott-Innes syndrome
612348THPH9Thrombophilia 9 due to decreased release of tissue plasminogen
600044THPOThrombocythemia 1; Thrombocytopenia 9; Amegakaryocytic thrombocytopenia, congenital, 2
190120THRAHypothyroidism, congenital, nongoitrous, 6
190160THRBThyroid hormone resistance; Thyroid hormone resistance; Thyroid hormone resistance, selective pituitary
616821THSD1Aneurysm, intracranial berry, 12; Lymphatic malformation 13
614476THSD4Aortic aneurysm, familial thoracic 12
616662THUMPD1Neurodevelopmental disorder with speech delay and variable ocular anomalies
603518TIA1Welander distal myopathy; Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia
600687TIAM1Neurodevelopmental disorder with language delay and seizures
607601TICAM1Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6
600222TIE1Lymphatic malformation 11
603887TIMELESSAdvance sleep phase syndrome, familial, 4
607251TIMM22Combined oxidative phosphorylation deficiency 43
607381TIMM503-methylglutaconic aciduria, type IX
300356TIMM8AMohr-Tranebjaerg syndrome, X-linked recessive
615534TIMMDC1Mitochondrial complex I deficiency, nuclear type 31
188826TIMP3Sorsby fundus dystrophy
604319TINF2Dyskeratosis congenita 3; Revesz syndrome
606252TIRAPMalaria, protection against; Tuberculosis, protection against; Bacteremia, protection against
607709TJP2Hypercholanemia, familial 1; Cholestasis, progressive familial intrahepatic 4
188250TK2Mitochondrial DNA depletion syndrome 2 (myopathic type); Progressive external ophthalmoplegia with mitochondrial DNA deletions 3
314300TKCRGoeminne TKCR syndrome, X-linked
615844TKFCTriokinase and FMN cyclase deficiency syndrome
606781TKTShort stature, developmental delay, and congenital heart defects
615175TLCD3BCone-rod dystrophy 22
612399TLE6Oocyte/zygote/embryo maturation arrest 15
608439TLK2Intellectual developmental disorder 57
606742TLL1Atrial septal defect 6
601194TLR1Leprosy, susceptibility to, 5; Leprosy, protection against
603028TLR2Colorectal cancer, susceptibility to, Somatic mutation; Leprosy, susceptibility to; Mycobacterium tuberculosis, susceptibility to
603029TLR3HIV1 infection, resistance to; Immunodeficiency 83, susceptibility to viral infections
603031TLR5Melioidosis, susceptibility to; Systemic lupus erythematosus, susceptibility to, 1; Systemic lupus erythematosus, resistance to; Legionnaire disease, susceptibility to
300365TLR7Immunodeficiency 74, COVID19-related, X-linked, X-linked recessive; Systemic lupus erythematosus 17, X-linked dominant
300366TLR8Immunodeficiency 98 with autoinflammation, X-linked, X-linked, Somatic mosaicism
615404TM4SF20Specific language impairment 5
606706TMC1Deafness 36; Deafness 7
605828TMC6Epidermodysplasia verruciformis, susceptibility to, 1
605829TMC8Epidermodysplasia verruciformis, susceptibility to, 2
614123TMCO1Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
613413TMEM106BLeukodystrophy, hypomyelinating, 16
616183TMEM107Orofaciodigital syndrome XVI; Meckel syndrome 13; Joubert syndrome 29
612988TMEM126AOptic atrophy 7
615533TMEM126BMitochondrial complex I deficiency, nuclear type 29
613403TMEM127Pheochromocytoma, susceptibility to
616178TMEM132EDeafness 99
614459TMEM138Joubert syndrome 16
613585TMEM147Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly
620108TMEM151AEpisodic kinesigenic dyskinesia 3
618978TMEM163Leukodystrophy, hypomyelinating, 25
614726TMEM165Congenital disorder of glycosylation, type IIk
616815TMEM199Congenital disorder of glycosylation, type IIp
613277TMEM216Joubert syndrome 2; Meckel syndrome 2
619285TMEM218Joubert syndrome 39
619469TMEM222Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities
614949TMEM231Joubert syndrome 20; Meckel syndrome 11
614423TMEM237Joubert syndrome 14
616101TMEM240Spinocerebellar ataxia 21
617449TMEM260Structural heart defects and renal anomalies syndrome
611236TMEM38BOsteogenesis imperfecta, type XIV
612048TMEM43Arrhythmogenic right ventricular dysplasia 5; Auditory neuropathy 3; Emery-Dreifuss muscular dystrophy 7, AD
619722TMEM53Craniotubular dysplasia, Ikegawa type
618685TMEM63ALeukodystrophy, hypomyelinating, 19, transient infantile
619953TMEM63CSpastic paraplegia 87
609884TMEM67Nephronophthisis 11; Bardet-Biedl syndrome 14, modifier of; Joubert syndrome 6; Meckel syndrome 3; RHYNS syndrome; COACH syndrome 1
612418TMEM70Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
618163TMEM94Intellectual developmental disorder with cardiac defects and dysmorphic facies
615949TMEM98Nanophthalmos 4
607237TMIEDeafness 6
300777TMLHEAutism, susceptibility to, X-linked 6, X-linked recessive
606635TMPRSS15Enterokinase deficiency
605511TMPRSS3Deafness 8/10
609862TMPRSS6Iron-refractory iron deficiency anemia
617218TMTC3Lissencephaly 8
618203TMTC4Deafness 122
616715TMX2Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
187380TNCDeafness 56
191160TNFMigraine without aura, susceptibility to; Dementia, vascular, susceptibility to; Asthma, susceptibility to; Septic shock, susceptibility to; Malaria, cerebral, susceptibility to
191163TNFAIP3Autoinflammatory syndrome, familial, Behcet-like 1
603612TNFRSF10BSquamous cell carcinoma, head and neck
603499TNFRSF11AOsteopetrosis 7; Paget disease of bone 2, early-onset; Osteolysis, familial expansile
602643TNFRSF11BPaget disease of bone 5, juvenile-onset
604907TNFRSF13BImmunodeficiency, common variable, 2; Immunoglobulin A deficiency 2
606269TNFRSF13CImmunodeficiency, common variable, 4
191190TNFRSF1AMultiple sclerosis, susceptibility to, 5; Periodic fever, familial
600315TNFRSF4Immunodeficiency 16
602250TNFRSF9Immunodeficiency 109 with lymphoproliferation
602642TNFSF11Osteopetrosis 2
603594TNFSF4Myocardial infarction, susceptibility to
610005TNIKIntellectual developmental disorder 54
191040TNNC1Cardiomyopathy, dilated, 1Z; Cardiomyopathy, hypertrophic, 13
191039TNNC2Congenital myopathy 15
191043TNNI2Arthrogryposis, distal, type 2B1
191044TNNI3Cardiomyopathy, dilated, 2A; Cardiomyopathy, hypertrophic, 7; Cardiomyopathy, familial restrictive, 1; Cardiomyopathy, dilated, 1FF
613932TNNI3KCardiac conduction disease with or without dilated cardiomyopathy
191041TNNT1Nemaline myopathy 5C; Nemaline myopathy 5A, severe infantile; Nemaline myopathy 5B, childhood-onset
191045TNNT2Cardiomyopathy, dilated, 1D; Cardiomyopathy, hypertrophic, 2; Cardiomyopathy, familial restrictive, 3; Left ventricular noncompaction 6
600692TNNT3Arthrogryposis, distal, type 2B2
603002TNPO2Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
610032TNPO3Muscular dystrophy, limb-girdle 2
601995TNRNeurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus
610739TNRC6AEpilepsy, familial adult myoclonic, 6
610740TNRC6BGlobal developmental delay with speech and behavioral abnormalities
600985TNXBEhlers-Danlos syndrome, classic-like, 1; Vesicoureteral reflux 8
613931TOE1Pontocerebellar hypoplasia, type 7
617618TOGARAM1Joubert syndrome 37
604700TOM1Immunodeficiency 85 and autoimmunity
607980TOMM7Garg-Mishra progeroid syndrome
604546TONSLSpondyloepimetaphyseal dysplasia, sponastrime type
126420TOP1DNA topoisomerase I, camptothecin-resistant
126430TOP2ADNA topoisomerase II, resistance to inhibition of, by amsacrine
126431TOP2BB-cell immunodeficiency, distal limb anomalies, and urogenital malformations
601243TOP3AMicrocephaly, growth restriction, and increased sister chromatid exchange 2; Progressive external ophthalmoplegia with mitochondrial DNA deletions 5
616109TOP6BLHydatidiform mole, recurrent, 4
609507TOPORSRetinitis pigmentosa 31
605204TOR1ADystonia-1, modifier of; Arthrogryposis multiplex congenita 5; Dystonia-1, torsion
614512TOR1AIP1Muscular dystrophy, with rigid spine and distal joint contractures
191170TP53Basal cell carcinoma 7; Adrenocortical carcinoma, pediatric; Hepatocellular carcinoma, somatic; Breast cancer, somatic; Li-Fraumeni syndrome; Pancreatic cancer, somatic; Nasopharyngeal carcinoma, somatic; Osteosarcoma, Somatic mutation; Choroid plexus papilloma; Colorectal cancer, Somatic mutation; Glioma susceptibility 1, Somatic mutation; Bone marrow failure syndrome 5
608679TP53RKGalloway-Mowat syndrome 4
603273TP63Premature ovarian failure 21; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; Hay-Wells syndrome; Split-hand/foot malformation 4; Orofacial cleft 8; Rapp-Hodgkin syndrome; ADULT syndrome; Limb-mammary syndrome
601990TP73Ciliary dyskinesia, primary, 47, and lissencephaly
612163TPCN2Skin/hair/eye pigmentation 10, blond/brown hair
607478TPH2Attention deficit-hyperactivity disorder, susceptibility to, 7; Unipolar depression, susceptibility to
190450TPI1Hemolytic anemia due to triosephosphate isomerase deficiency
606370TPK1Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
191010TPM1Left ventricular noncompaction 9; Cardiomyopathy, hypertrophic, 3; Cardiomyopathy, dilated, 1Y
190990TPM2Arthrogryposis, distal, type 2B4; Arthrogryposis, distal, type 1A; Congenital myopathy 23
191030TPM3Congenital myopathy 4A; Congenital myopathy 4B
600317TPM4Bleeding disorder, platelet-type, 25
187680TPMTThiopurines, poor metabolism of, 1
606765TPOThyroid dyshormonogenesis 2A
607998TPP1Ceroid lipofuscinosis, neuronal, 2; Spinocerebellar ataxia 7
190470TPP2Immunodeficiency 78 with autoimmunity and developmental delay
189940TPRIntellectual developmental disorder 79
608680TPRKBGalloway-Mowat syndrome 5
613354TPRNDeafness 79
186880TRACImmunodeficiency 7, TCR-alpha/beta deficient
601896TRAF3Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5
607380TRAF3IP1Senior-Loken syndrome 9
607043TRAF3IP2Candidiasis, familial, 8; Psoriasis susceptibility 13
606692TRAF7Cardiac, facial, and digital anomalies with developmental delay
605958TRAIPSeckel syndrome 9
608112TRAK1Developmental and epileptic encephalopathy 68
602103TRAPPC10Neurodevelopmental disorder with microcephaly, short stature, and speech delay
614138TRAPPC11Muscular dystrophy, limb-girdle 18
614139TRAPPC12Encephalopathy, progressive, early-onset, with brain atrophy and spasticity
618350TRAPPC14Microcephaly 25, primary
300202TRAPPC2Spondyloepiphyseal dysplasia tarda, X-linked recessive
610970TRAPPC2LEncephalopathy, progressive, early-onset, with episodic rhabdomyolysis
610971TRAPPC4Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
610397TRAPPC6BNeurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
611966TRAPPC9Intellectual developmental disorder 13
603283TRDNCardiac arrhythmia syndrome, with or without skeletal muscle weakness
275360TREHTrehalase deficiency
605086TREM2Alzhieimer disease 17, susceptibility to; Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
606609TREX1Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations; Aicardi-Goutieres syndrome 1, dominant and recessive; Systemic lupus erythematosus, susceptibility to; Chilblain lupus
613879TRHThyrotropin-releasing hormone deficiency
188545TRHRHypothyroidism, congenital, nongoitrous, 7
609649TRICY1Trichilemmal cyst 1
614141TRIM2Charcot-Marie-Tooth disease, type 2R
602290TRIM32Bardet-Biedl syndrome 11; Muscular dystrophy, limb-girdle 8
609317TRIM36Anencephaly 1
605073TRIM37Mulibrey nanism
612298TRIM44Aniridia 3
618570TRIM71Hydrocephalus, congenital, 4
606125TRIM8Focal segmental glomerulosclerosis and neurodevelopmental syndrome
601893TRIOIntellectual developmental disorder 44, with microcephaly; Intellectual developmental disorder 63, with macrocephaly
609761TRIOBPDeafness 28
604505TRIP11Odontochondrodysplasia 1; Achondrogenesis, type IA
604506TRIP12Intellectual developmental disorder 49
604507TRIP13Oocyte/zygote/embryo maturation arrest 9; Mosaic variegated aneuploidy syndrome 3
604501TRIP4Muscular dystrophy, congenital, Davignon-Chauveau type; Spinal muscular atrophy with congenital bone fractures 1
617840TRIT1Combined oxidative phosphorylation deficiency 35
611669TRMT1Intellectual developmental disorder 68
616013TRMT10AMicrocephaly, short stature, and impaired glucose metabolism 1
615423TRMT10CCombined oxidative phosphorylation deficiency 30
611023TRMT5Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay
610230TRMUDeafness, mitochondrial, modifier of, Mitochondrial; Liver failure, transient infantile
612907TRNT1Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; Retinitis pigmentosa and erythrocytic microcytosis
604775TRPA1Episodic pain syndrome, familial, 1
602345TRPC3Spinocerebellar ataxia 41
603652TRPC6Glomerulosclerosis, focal segmental, 2
603576TRPM1Night blindness, congenital stationary (complete), 1C
608961TRPM3Cataract 50 with or without glaucoma; Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures
606936TRPM4Progressive familial heart block, type IB; Erythrokeratodermia variabilis et progressiva 6
607009TRPM6Hypomagnesemia 1, intestinal
605692TRPM7Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to
604386TRPS1Trichorhinophalangeal syndrome, type III; Trichorhinophalangeal syndrome, type I
607066TRPV3Palmoplantar keratoderma, nonepidermolytic, focal 2; Olmsted syndrome 1
605427TRPV4Neuronopathy, distal hereditary motor 8; Spondylometaphyseal dysplasia, Kozlowski type; Digital arthropathy-brachydactyly, familial; Sodium serum level QTL 1; SED, Maroteaux type; Metatropic dysplasia; Scapuloperoneal spinal muscular atrophy; Hereditary motor and sensory neuropathy, type IIc; Avascular necrosis of femoral head, primary, 2; Parastremmatic dwarfism; Brachyolmia type 3
606680TRPV6Hyperparathyroidism, transient neonatal
603015TRRAPDeafness 75; Developmental delay with or without dysmorphic facies and autism
165060TRU-TCA1-1Thyroid hormone metabolism, abnormal, 3
605284TSC1Focal cortical dysplasia, type II, somatic; Tuberous sclerosis-1; Lymphangioleiomyomatosis
191092TSC2Lymphangioleiomyomatosis, somatic; Focal cortical dysplasia, type II, somatic; Tuberous sclerosis-2
608756TSEN15Pontocerebellar hypoplasia, type 2F
608753TSEN2Pontocerebellar hypoplasia type 2B
608754TSEN34Pontocerebellar hypoplasia type 2C
608755TSEN54Pontocerebellar hypoplasia type 2A; Pontocerebellar hypoplasia type 4; Pontocerebellar hypoplasia type 5
604723TSFMCombined oxidative phosphorylation deficiency 3
603040TSG11Nonsmall cell lung cancer
607166TSGA10Spermatogenic failure 26
188540TSHBHypothyroidism, congenital, nongoitrous 4
612306TSHQTL1Thyroid-stimulating hormone level QTL 1
603372TSHRHyperthyroidism, familial gestational; Hyperthyroidism, nonautoimmune; Thyroid adenoma, hyperfunctioning, somatic; Hypothyroidism, congenital, nongoitrous, 1; Thyroid carcinoma with thyrotoxicosis, somatic
614427TSHZ1Aural atresia, congenital
613138TSPAN12Exudative vitreoretinopathy 5
300096TSPAN7Intellectual developmental disorder, X-linked 58, X-linked recessive
612920TSPEARTooth agenesis, selective, 10; Deafness 98; Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
610764TSPOAP1Dystonia 22, juvenile-onset; Dystonia 22, adult-onset
604714TSPYL1Sudden infant death with dysgenesis of the testes syndrome
300945TSR2Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, X-linked recessive
613636TST1Tuberculin skin test reactivity, absence of
613637TST2Tuberculin skin test reactivity QTL
611695TTBK2Spinocerebellar ataxia 11
610732TTC12Ciliary dyskinesia, primary, 45
613814TTC19Mitochondrial complex III deficiency, nuclear type 2
611430TTC21ASpermatogenic failure 37
612014TTC21BShort-rib thoracic dysplasia 4 with or without polydactyly; Nephronophthisis 12
618735TTC29Spermatogenic failure 42
619014TTC5Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
609332TTC7AGastrointestinal defects and immunodeficiency syndrome
608132TTC8Bardet-Biedl syndrome 8; Retinitis pigmentosa 51
614425TTI1Neurodevelopmental disorder with microcephaly and movement abnormalities
614426TTI2Intellectual developmental disorder 39
612268TTLL5Cone-rod dystrophy 19
188840TTNMuscular dystrophy, limb-girdle 10; Cardiomyopathy, familial hypertrophic, 9; Congenital myopathy 5 with cardiomyopathy; Tibial muscular dystrophy, tardive; Cardiomyopathy, dilated, 1G; Myopathy, myofibrillar, 9, with early respiratory failure
600415TTPAAtaxia with isolated vitamin E deficiency
614834TTPP3Thyrotoxic periodic paralysis, susceptibility to, 3
176300TTRAmyloidosis, hereditary, transthyretin-related; Carpal tunnel syndrome, familial; Dystransthyretinemic hyperthyroxinemia
601197TUBRetinal dystrophy and obesity
602529TUBA1ALissencephaly 3
617878TUBA3DKeratoconus 9
191110TUBA4AAmyotrophic lateral sclerosis 22 with or without frontotemporal dementia
605742TUBA8Macrothrombocytopenia, isolated, 2
191130TUBBSymmetric circumferential skin creases, congenital, 1; Cortical dysplasia, complex, with other brain malformations 6
612901TUBB1Macrothrombocytopenia, isolated, 1
615101TUBB2ACortical dysplasia, complex, with other brain malformations 5
612850TUBB2BCortical dysplasia, complex, with other brain malformations 7
602661TUBB3Fibrosis of extraocular muscles, congenital, 3A; Cortical dysplasia, complex, with other brain malformations 1
602662TUBB4ADystonia 4, torsion; Leukodystrophy, hypomyelinating, 6
602660TUBB4BLeber congenital amaurosis with early-onset deafness
615103TUBB6Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
616768TUBB8Oocyte/zygote/embryo maturation arrest 2
191135TUBG1Cortical dysplasia, complex, with other brain malformations 4
617817TUBGCP2Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
609610TUBGCP4Microcephaly and chorioretinopathy, 3
610053TUBGCP6Microcephaly and chorioretinopathy, 1
602389TUFMCombined oxidative phosphorylation deficiency 4
600087TUFT1Woolly hair-skin fragility syndrome
609428TUKLSTukel syndrome
602280TULP1Leber congenital amaurosis 15; Retinitis pigmentosa 14
604730TULP3Hepatorenocardiac degenerative fibrosis
601385TUSC3Intellectual developmental disorder 7
601622TWIST1Craniosynostosis 1; Robinow-Sorauf syndrome; Sweeney-Cox syndrome; Saethre-Chotzen syndrome with or without eyelid anomalies
607556TWIST2Ablepharon-macrostomia syndrome; Barber-Say syndrome; Focal facial dermal dysplasia 3, Setleis type
606075TWNKMitochondrial DNA depletion syndrome 7 (hepatocerebral type); Progressive external ophthalmoplegia with mitochondrial DNA deletions 3; Perrault syndrome 5
609063TXN2Combined oxidative phosphorylation deficiency 29
617778TXNDC15Meckel syndrome 14
611595TXNL4ABurn-McKeown syndrome
606448TXNRD2Glucocorticoid deficiency 5
176941TYK2Immunodeficiency 35
131222TYMPMitochondrial DNA depletion syndrome 1 (MNGIE type)
188350TYMSDyskeratosis congenita, digenic, Digenic dominant
606933TYRSkin/hair/eye pigmentation 3, light/dark/freckling skin; Skin/hair/eye pigmentation 3, blue/green eyes; Melanoma, cutaneous malignant, susceptibility to, 8; Albinism, oculocutaneous, type IB; Albinism, oculocutaneous, type IA
604142TYROBPPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
115501TYRP1Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair); Albinism, oculocutaneous, type III
191318U2AF2Developmental delay, dysmorphic facies, and brain anomalies
614746UAQTL5Uric acid concentration, serum, QTL5
614747UAQTL6Uric acid concentration, serum, QTL6
314370UBA1Spinal muscular atrophy, X-linked 2, infantile, X-linked recessive; VEXAS syndrome, somatic
613295UBA2ACCES syndrome
610552UBA5Spinocerebellar ataxia 24; Developmental and epileptic encephalopathy 44
609787UBAP1Spastic paraplegia 80
616472UBAP2LNeurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
312180UBE2AIntellectual developmental disorder, X-linked syndromic, Nascimento type, X-linked recessive
610538UBE2TFanconi anemia, complementation group T
601623UBE3AAngelman syndrome
608047UBE3BKaufman oculocerebrofacial syndrome
614454UBE3CNeurodevelopmental disorder with absent speech and movement and behavioral abnormalities
603753UBE4ANeurodevelopmental disorder with hypotonia and gross motor and speech delay
611632UBIAD1Corneal dystrophy, Schnyder type
300264UBQLN2Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, X-linked dominant
605981UBR1Johanson-Blizzard syndrome
613816UBR7Li-Campeau syndrome
600673UBTFNeurodegeneration, childhood-onset, with brain atrophy
191342UCHL1Parkinson disease 5, susceptibility to; Spastic paraplegia 79A; Spastic paraplegia 79B
601693UCP2Obesity, susceptibility to, BMIQ4
602044UCP3Obesity, severe, and type II diabetes, Multifactorial
610554UFC1Neurodevelopmental disorder with spasticity and poor growth
610553UFM1Leukodystrophy, hypomyelinating, 14
611482UFSP2Hip dysplasia, Beukes type; Spondyloepimetaphyseal dysplasia, Di Rocco type; Developmental and epileptic encephalopathy 106
603370UGDHDevelopmental and epileptic encephalopathy 84
191760UGP2Developmental and epileptic encephalopathy 83
191740UGT1A1Crigler-Najjar syndrome, type I; Bilirubin, serum level of, QTL1; Hyperbilirubinemia, familial transient neonatal; Crigler-Najjar syndrome, type II; Gilbert syndrome
601903UGT2B17Bone mineral density QTL 12, osteoporosis
191845UMODTubulointerstitial kidney disease, 1
613891UMPSOrotic aciduria
604011UNC119Cone-rod dystrophy 24; Immunodeficiency 13
608897UNC13DHemophagocytic lymphohistiocytosis, familial, 3
611219UNC45AOsteootohepatoenteric syndrome
611220UNC45BCataract 43; Myofibrillar myopathy 11
612636UNC80Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
608204UNC93B1Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1
191525UNGImmunodeficiency with hyper IgM, type 5
191540UOXUrate oxidase deficiency
606673UPB1Beta-ureidopropionase deficiency
300298UPF3BIntellectual developmental disorder, X-linked syndromic 14, X-linked recessive
614461UQCC2Mitochondrial complex III deficiency, nuclear type 7
616097UQCC3Mitochondrial complex III deficiency, nuclear type 9
191330UQCRBMitochondrial complex III deficiency, nuclear type 3
191328UQCRC1Parkinsonism with polyneuropathy
191329UQCRC2Mitochondrial complex III deficiency, nuclear type 5
191327UQCRFS1Mitochondrial complex III deficiency, nuclear type 10
613844UQCRHMitochondrial complex III deficiency, nuclear type 11
612080UQCRQMitochondrial complex III deficiency, nuclear type 4
613012UROC1Urocanase deficiency
613521URODPorphyria, hepatoerythropoietic; Porphyria cutanea tarda
606938UROSPorphyria, congenital erythropoietic
613276USB1Poikiloderma with neutropenia
191523USF1Hyperlipidemia, familial combined, susceptibility to
605242USH1CUsher syndrome, type 1C; Deafness 18A
602097USH1EUsher syndrome, type 1E
607696USH1GUsher syndrome, type 1G
612632USH1HUsher syndrome, type 1H
614990USH1KUsher syndrome, type IK
608400USH2AUsher syndrome, type 2A; Retinitis pigmentosa 39
607057USP18Pseudo-TORCH syndrome 2
300309USP26Spermatogenic failure, X-linked, 6, X-linked
300975USP27XIntellectual developmental disorder, X-linked 105, X-linked recessive
618439USP45Leber congenital amaurosis 19
617445USP48Deafness 85
617431USP53Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
602519USP7Hao-Fountain syndrome
603158USP8Pituitary adenoma 4, ACTH-secreting, somatic
300072USP9XIntellectual developmental disorder, X-linked 99, X-linked recessive; Intellectual developmental disorder, X-linked 99, syndromic, female-restricted, X-linked dominant
400005USP9YSpermatogenic failure, Y-linked, 2, Y-linked
614632UVSSAUV-sensitive syndrome 3
604632VAC14Striatonigral degeneration, childhood-onset
193200VAMAS6Vitiligo-associated multiple autoimmune disease susceptibility 6
185880VAMP1Myasthenic syndrome, congenital, 25; Spastic ataxia 1
185881VAMP2Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
610132VANGL1Neural tube defects, susceptibility to; Caudal regression syndrome
600533VANGL2Neural tube defects
605704VAPBSpinal muscular atrophy, late-onset, Finkel type; Amyotrophic lateral sclerosis 8
192150VARS1Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
612802VARS2Combined oxidative phosphorylation deficiency 20
604294VAX1Microphthalmia, syndromic 11
118661VCANWagner syndrome 1
193065VCLCardiomyopathy, dilated, 1W; Cardiomyopathy, hypertrophic, 15
601023VCPFrontotemporal dementia and/or amyotrophic lateral sclerosis 6; Charcot-Marie-Tooth disease, type 2Y; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1
601769VDRRickets, vitamin D-resistant, type IIA
192240VEGFAMicrovascular complications of diabetes 1
601528VEGFCLymphatic malformation 4
606747VEZF1Cardiomyopathy, dilated, 1OO
608537VHLHemangioblastoma, cerebellar, somatic; Erythrocytosis, familial, 2; von Hippel-Lindau syndrome; Renal cell carcinoma, somatic; Pheochromocytoma
193060VIMCataract 30, pulverulent
613401VIPAS39Arthrogryposis, renal dysfunction, and cholestasis 2
608547VKORC1Vitamin K-dependent clotting factors, combined deficiency of, 2; Warfarin resistance
192977VLDLRCerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome 1
300913VMA21Myopathy, X-linked, with excessive autophagy, X-linked recessive
608549VPS11Dystonia 32; Leukodystrophy, hypomyelinating, 12
605978VPS13AChoreoacanthocytosis
607817VPS13BCohen syndrome
608879VPS13CParkinson disease 23, early onset
608877VPS13DSpinocerebellar ataxia 4
608550VPS16Dystonia 30
610034VPS33AMucopolysaccharidosis-plus syndrome
608552VPS33BKeratoderma-ichthyosis-deafness syndrome; Cholestasis, progressive familial intrahepatic, 12; Arthrogryposis, renal dysfunction, and cholestasis 1
601501VPS35Parkinson disease 17
618981VPS35LRitscher-Schinzel syndrome 3
609927VPS37ASpastic paraplegia 53
605485VPS41Spinocerebellar ataxia 29
610035VPS45Neutropenia, severe congenital, 5
609982VPS4ACIMDAG syndrome
616465VPS50Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis
615738VPS51Pontocerebellar hypoplasia, type 13
615850VPS53Pontocerebellar hypoplasia, type 2E
602168VRK1Pontocerebellar hypoplasia type 1A; Neuronopathy, distal hereditary motor 10
313000VSPAVisuospatial/perceptual abilities, X-linked recessive; Turner syndrome-associated neurocognitive phenotype, X-linked recessive
605020VSX1Craniofacial anomalies and anterior segment dysgenesis syndrome; Keratoconus 1
142993VSX2Microphthalmia, isolated 2; Microphthalmia/coloboma 3
193000VURVesicoureteral reflux 1
614317VUR4Vesicoureteral reflux 4
614318VUR5Vesicoureteral reflux 5
614319VUR6Vesicoureteral reflux 6
615390VUR7Vesicoureteral reflux 7
609289VVSSyncope, familial vasovagal
611901VWA1Neuronopathy, distal hereditary motor 7
614884VWA3BSpinocerebellar ataxia 22
617509VWA8Retinitis pigmentosa 97
613160VWFvon Willebrand disease, type 1; von Willebrand disease, types 2A, 2B, 2M, and 2N; von Willebrand disease, type 3
615049WACDesanto-Shinawi syndrome
191050WARS1Neuronopathy, distal hereditary motor 9; Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities
604733WARS2Parkinsonism-dystonia 3, childhood-onset; Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
300392WASWiskott-Aldrich syndrome, X-linked recessive; Neutropenia, severe congenital, X-linked, X-linked recessive; Thrombocytopenia, X-linked, intermittent, X-linked recessive; Thrombocytopenia, X-linked, X-linked recessive
605035WASF1Neurodevelopmental disorder with absent language and variable seizures
615748WASHC4Intellectual developmental disorder 43
610657WASHC5Ritscher-Schinzel syndrome 1; Spastic paraplegia 8
618083WBP11Vertebral, cardiac, tracheoesophageal, renal, and limb defects
606962WBP2Deafness 107
604981WBP4Neurodevelopemental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities
617485WDFY3Microcephaly 18, primary
613580WDPCPBardet-Biedl syndrome 15; Congenital heart defects, hamartomas of tongue, and polysyndactyly
604734WDR1Periodic fever, immunodeficiency, and thrombocytopenia syndrome
606417WDR11Intellectual developmental disorder 78; Hypogonadotropic hypogonadism 14 with or without anosmia
608151WDR19Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Short-rib thoracic dysplasia 5 with or without polydactyly; Spermatogenic failure 72
617424WDR26Skraban-Deardorff syndrome
613602WDR35Short-rib thoracic dysplasia 7 with or without polydactyly; Cranioectodermal dysplasia 2
609669WDR36Glaucoma 1, open angle, G
618586WDR37Neurooculocardiogenitourinary syndrome
605924WDR4Galloway-Mowat syndrome 6; Microcephaly, growth deficiency, seizures, and brain malformations
300526WDR45Neurodegeneration with brain iron accumulation 5, X-linked dominant
609226WDR45BNeurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
613583WDR62Microcephaly 2, primary, with or without cortical malformations
613214WDR72Amelogenesis imperfecta, type IIA3
616144WDR73Galloway-Mowat syndrome 1
614218WDR81Cerebellar ataxia, impaired intellectual development, and dysquilibrium syndrome 2; Hydrocephalus, congenital, 3, with brain anomalies
614084WEE2Oocyte/zygote/embryo maturation arrest 5
606201WFS1Deafness 6/14/38; Cataract 41; Wolfram-like syndrome; Diabetes mellitus, noninsulin-dependent, association with; Wolfram syndrome 1
608710WGGranulomatosis with polyangiitis
607928WHRNDeafness 31; Usher syndrome, type 2D
602357WIPF1Wiskott-Aldrich syndrome 2
609225WIPI2Intellectual developmental disorder with short stature and variable skeletal anomalies
611514WLSZaki syndrome
610430WM2Macroglobulinemia, Waldenstrom, susceptibility to, 2
605232WNK1Neuropathy, hereditary sensory and autonomic, type II; Pseudohypoaldosteronism, type IIC
300358WNK3Prieto syndrome, X-linked recessive
601844WNK4Pseudohypoaldosteronism, type IIB
164820WNT1Osteoporosis, early-onset, susceptibility to; Osteogenesis imperfecta, type XV
606268WNT10ASchopf-Schulz-Passarge syndrome; Tooth agenesis, selective, 4; Ectodermal dysplasia 16 (odontoonychodermal dysplasia)
601906WNT10BTooth agenesis, selective, 8; Split-hand/foot malformation 6
601968WNT2BDiarrhea 9
165330WNT3Tetra-amelia syndrome 1
603490WNT4SERKAL syndrome; Mullerian aplasia and hyperandrogenism
164975WNT5ARobinow syndrome 1
601570WNT7AFuhrmann syndrome; Ulna and fibula, absence of, with severe limb deficiency
612661WRAP53Dyskeratosis congenita 3
604611WRNWerner syndrome
600193WS2BWaardenburg syndrome, type 2B
606662WS2CWaardenburg syndrome, type 2C
607102WT1Mesothelioma, somatic; Meacham syndrome; Frasier syndrome, Somatic mutation; Nephrotic syndrome, type 4; Denys-Drash syndrome, Somatic mutation; Wilms tumor, type 1, Somatic mutation
194090WT3Wilms tumor, type 3
601363WT4Wilms tumor, type 4
610533WWC1Memory, enhanced, QTL
605131WWOXEsophageal squamous cell carcinoma, somatic; Developmental and epileptic encephalopathy 28; Spinocerebellar ataxia 12
194355XBP1Major affective disorder-7, susceptibility to
607633XDHXanthinuria, type I
300779XECDCorneal dystrophy, endothelial, X-linked, X-linked dominant
300079XIAPLymphoproliferative syndrome, X-linked, 2, X-linked recessive
314670XISTX-inactivation, familial skewed, X-linked
314850XKMcLeod syndrome, X-linked
611153XPAXeroderma pigmentosum, group A
613208XPCXeroderma pigmentosum, group C
300145XPNPEP2Angioedema induced by ACE inhibitors, susceptibility to
613553XPNPEP3Nephronophthisis-like nephropathy 1
605237XPR1Basal ganglia calcification, idiopathic, 6
194360XRCC1Spinocerebellar ataxia 26
600375XRCC2Spermatogenic failure 50; Premature ovarian failure 17; Fanconi anemia, complementation group U
600675XRCC3Breast cancer, susceptibility to, Somatic mutation; Melanoma, cutaneous malignant, 6
194363XRCC4Short stature, microcephaly, and endocrine dysfunction
608124XYLT1Desbuquois dysplasia 2; Pseudoxanthoma elasticum, modifier of severity of
608125XYLT2Pseudoxanthoma elasticum, modifier of severity of; Spondyloocular syndrome
606608YAP1Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development
603623YARS1Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2; Charcot-Marie-Tooth disease, dominant intermediate C
610957YARS2Myopathy, lactic acidosis, and sideroblastic anemia 2
613373YEATS2Epilepsy, myoclonic, familial adult, 4
619109YIF1BKaya-Barakat-Masson syndrome
611483YIPF5Microcephaly, epilepsy, and diabetes syndrome 2
607472YME1L1Optic atrophy 11
612276YRDCGalloway-Mowat syndrome 10
605356YWHAGDevelopmental and epileptic encephalopathy 56
600013YY1Gabriele-de Vries syndrome
607860YY1AP1Grange syndrome
176947ZAP70Immunodeficiency 48; Autoimmune disease, multisystem, infantile-onset, 2
618181ZBTB11Intellectual developmental disorder 69
176797ZBTB16Leukemia, acute promyelocytic, PL2F/RARA type
608433ZBTB18Intellectual developmental disorder 22
606025ZBTB20Primrose syndrome
614064ZBTB24Immunodeficiency-centromeric instability-facial anomalies syndrome 2
613915ZBTB42Lethal congenital contracture syndrome 6
605878ZBTB7AMacrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
613279ZC3H14Intellectual developmental disorder 56
300897ZC4H2Wieacker-Wolff syndrome, X-linked recessive; Wieacker-Wolff syndrome, female-restricted, X-linked dominant
616381ZCCHC8Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 5
609815ZD1Zygodactyly 1
300646ZDHHC9Intellectual developmental disorder, X-linked syndromic, Raymond type, X-linked
189909ZEB1Corneal dystrophy, posterior polymorphous, 3; Corneal dystrophy, Fuchs endothelial, 6
605802ZEB2Mowat-Wilson syndrome
610931ZFATAutoimmune thyroid disease, susceptibility to, 3
617828ZFHX2Marsili syndrome
104155ZFHX3Prostate cancer, somatic; Atrial fibrillation 8, susceptibility to; Spinocerebellar ataxia 4
606940ZFHX4Ptosis, congenital
612053ZFP36L2Oocyte/zygote/embryo maturation arrest 13
612192ZFP57Diabetes mellitus, transient neonatal 1
603693ZFPM2Diaphragmatic hernia 3; 46XY sex reversal 9; Tetralogy of Fallot
314980ZFXIntellectual developmental disorder, X-linked syndromic 37, X-linked
619635ZFYVE19Cholestasis, progressive familial intrahepatic, 9
612012ZFYVE26Spastic paraplegia 15
600470ZIC1Craniosynostosis 6; Structural brain anomalies with impaired intellectual development and craniosynostosis
603073ZIC2Holoprosencephaly 5
300265ZIC3Congenital heart defects, nonsyndromic, 1, X-linked, X-linked recessive; Heterotaxy, visceral, 1, X-linked, X-linked recessive; VACTERL association, X-linked, X-linked recessive
607159ZMIZ1Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
606480ZMPSTE24Mandibuloacral dysplasia with type B lipodystrophy; Restrictive dermopathy 1
602221ZMYM2Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
300061ZMYM3Intellectual developmental disorder, X-linked 112, X-linked recessive
607070ZMYND10Ciliary dyskinesia, primary, 22
608668ZMYND11Intellectual developmental disorder 30
614312ZMYND15Spermatogenic failure 14
194648ZNF141Polydactyly, postaxial, type A6
604083ZNF142Neurodevelopmental disorder with impaired speech and hyperkinetic movements
601897ZNF148Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
616213ZNF292Intellectual developmental disorder 64
610827ZNF335Microcephaly 10, primary
618269ZNF341Hyper-IgE syndrome 3, with recurrent infections
607818ZNF365Nephrolithiasis, uric acid, susceptibility to
615894ZNF407SIMHA syndrome
616454ZNF408Retinitis pigmentosa 72; Exudative vitreoretinopathy 6
604557ZNF423Nephronophthisis 14; Joubert syndrome 19
617371ZNF462Weiss-Kruszka syndrome
612078ZNF469Brittle cornea syndrome 1
613598ZNF513Retinitis pigmentosa 58
614387ZNF526Dentici-Novelli neurodevelopmental syndrome
614159ZNF644Myopia 21
617103ZNF668Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies
610568ZNF687Paget disease of bone 6
609571ZNF699DEGCAGS syndrome
314990ZNF711Intellectual developmental disorder, X-linked 97, X-linked
610226ZNF750Seborrhea-like dermatitis with psoriasiform elements
618931ZNFX1Immunodeficiency 91 and hyperinflammation
604500ZNHIT3PEHO syndrome
195000ZP1Oocyte/zygote/embryo maturation arrest 1
182888ZP2Oocyte/zygote/embryo maturation arrest 6
182889ZP3Oocyte/zygote/embryo maturation arrest 3
608498ZPBPSpermatogenic failure 66
603901ZPR1Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
618365ZSCAN10Otofacial neurodevelopmental syndrome
615951ZSWIM6Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features; Acromelic frontonasal dysostosis
614535ZSWIM7Spermatogenic failure 71; Ovarian dysgenesis 10