Human Phenotype Ontology 
Grandparent Node:
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All (HP:0000001)help
Parent Node:
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Mode of inheritance (HP:0000005)help
..Starting node
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Autosomal dominant inheritance (HP:0000006)help
Term ID: 6
Name: Autosomal dominant inheritance
Synonym: Autosomal dominant; Autosomal dominant form; Autosomal dominant type; monoallelic_autosomal
Definition: A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Comments:
Reference: HP:0000006
Genes and Diseases:
 
       Child Nodes:
........expandAutosomal dominant somatic cell mutation (HP:0001444) help
........expandAutosomal dominant contiguous gene syndrome (HP:0001452) help
........expandSex-limited autosomal dominant (HP:0001470) help
................... HP:0001475 Male-limited autosomal dominant
........expandAutosomal dominant inheritance with paternal imprinting (HP:0012274) help
........expandAutosomal dominant inheritance with maternal imprinting (HP:0012275) help
........expandAutosomal dominant germline de novo mutation (HP:0025352) help

 Sister Nodes: 
..expandAutosomal recessive inheritance (HP:0000007) help
..expandContiguous gene syndrome (HP:0001466) help
..expandGenetic anticipation (HP:0003743) help
..expandMitochondrial inheritance (HP:0001427) help
..expandMultifactorial inheritance (HP:0001426) help
..expandobsolete Familial predisposition (HP:0001472) help
..expandobsolete Gonosomal inheritance (HP:0010985) help
..expandobsolete Heterogeneous (HP:0001425) help
..expandSomatic mutation (HP:0001428) help
..expandSporadic (HP:0003745) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000006HP:0000006Autosomal dominant inheritance0A2ML1 CL E G H14456823336OMIM:166760Otitis media, susceptibility to.120
HP:0000006HP:0000006Autosomal dominant inheritance0A4GALT CL E G H5394718149OMIM:111400BLOOD GROUP, P1PK SYSTEM9
HP:0000006HP:0000006Autosomal dominant inheritance0AAGAB CL E G H7971925662OMIM:148600Palmoplantar keratoderma, punctate type IA7
HP:0000006HP:0000006Autosomal dominant inheritance0AARS1 CL E G H1620OMIM:613287Charcot-Marie-Tooth disease, axonal, type 2N.
HP:0000006HP:0000006Autosomal dominant inheritance0AARS1 CL E G H1620OMIM:619661LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0000006HP:0000006Autosomal dominant inheritance0ABCA1 CL E G H1929OMIM:604091HYPOALPHALIPOPROTEINEMIA, PRIMARY191
HP:0000006HP:0000006Autosomal dominant inheritance0ABCA4 CL E G H2434OMIM:153800Macular degeneration, age-related, 2.826
HP:0000006HP:0000006Autosomal dominant inheritance0ABCA7 CL E G H1034737OMIM:608907Alzheimer disease 9, susceptibility to.3
HP:0000006HP:0000006Autosomal dominant inheritance0ABCB4 CL E G H524445OMIM:614972Cholestasis, intrahepatic, of pregnancy 3.111
HP:0000006HP:0000006Autosomal dominant inheritance0ABCB4 CL E G H524445OMIM:600803Gallbladder disease 1.111
HP:0000006HP:0000006Autosomal dominant inheritance0ABCB6 CL E G H1005847OMIM:615402DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH320
HP:0000006HP:0000006Autosomal dominant inheritance0ABCB6 CL E G H1005847OMIM:614497Microphthalmia, isolated, with coloboma 7.20
HP:0000006HP:0000006Autosomal dominant inheritance0ABCB6 CL E G H1005847OMIM:609153Pseudohyperkalemia, familial, 2, due to red cell leak.20
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC1 CL E G H436351OMIM:618915DEAFNESS, AUTOSOMAL DOMINANT 77; DFNA7722
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC6 CL E G H36857OMIM:177850Pseudoxanthoma elasticum, forme fruste.415
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC8 CL E G H683359OMIM:125853Diabetes mellitus, noninsulin-dependent.245
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC8 CL E G H683359OMIM:618857DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3245
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC8 CL E G H683359OMIM:610374DIABETES MELLITUS, TRANSIENT NEONATAL, 2245
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC8 CL E G H683359OMIM:256450Hyperinsulinemic hypoglycemia, familial, 1.245
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC8 CL E G H683359OMIM:240800Hypoglycemia of infancy, leucine-sensitive.245
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC9 CL E G H1006060OMIM:614050Atrial fibrillation, familial, 12.254
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC9 CL E G H1006060OMIM:608569CARDIOMYOPATHY, DILATED, 1O; CMD1O254
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia.254
HP:0000006HP:0000006Autosomal dominant inheritance0ABL1 CL E G H2576OMIM:617602Congenital heart defects and skeletal malformations syndrome.51
HP:0000006HP:0000006Autosomal dominant inheritance0ACAN CL E G H176319OMIM:165800Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans.34
HP:0000006HP:0000006Autosomal dominant inheritance0ACAN CL E G H176319OMIM:608361Spondyloepiphyseal dysplasia, Kimberley type.34
HP:0000006HP:0000006Autosomal dominant inheritance0ACD CL E G H6505725070OMIM:616553Dyskeratosis congenita, autosomal dominant 6.11
HP:0000006HP:0000006Autosomal dominant inheritance0ACOX1 CL E G H51119OMIM:618960MITCHELL SYNDROME; MITCH120
HP:0000006HP:0000006Autosomal dominant inheritance0ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion.96
HP:0000006HP:0000006Autosomal dominant inheritance0ACTA1 CL E G H58129OMIM:616852Myopathy, scapulohumeroperoneal96
HP:0000006HP:0000006Autosomal dominant inheritance0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3.96
HP:0000006HP:0000006Autosomal dominant inheritance0ACTA2 CL E G H59130OMIM:611788AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT694
HP:0000006HP:0000006Autosomal dominant inheritance0ACTA2 CL E G H59130OMIM:614042Moyamoya disease 594
HP:0000006HP:0000006Autosomal dominant inheritance0ACTA2 CL E G H59130OMIM:613834Multisystemic smooth muscle dysfunction syndrome.94
HP:0000006HP:0000006Autosomal dominant inheritance0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 1.72
HP:0000006HP:0000006Autosomal dominant inheritance0ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset.72
HP:0000006HP:0000006Autosomal dominant inheritance0ACTC1 CL E G H70143OMIM:612794Atrial septal defect 5.208
HP:0000006HP:0000006Autosomal dominant inheritance0ACTC1 CL E G H70143OMIM:613424Cardiomyopathy, dilated, 1R.208
HP:0000006HP:0000006Autosomal dominant inheritance0ACTC1 CL E G H70143OMIM:612098Cardiomyopathy, familial hypertrophic, 11.208
HP:0000006HP:0000006Autosomal dominant inheritance0ACTG1 CL E G H71144OMIM:614583Baraitser-Winter syndrome 2123
HP:0000006HP:0000006Autosomal dominant inheritance0ACTG1 CL E G H71144OMIM:604717Deafness, autosomal dominant 20.123
HP:0000006HP:0000006Autosomal dominant inheritance0ACTG2 CL E G H72145OMIM:619431MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS523
HP:0000006HP:0000006Autosomal dominant inheritance0ACTG2 CL E G H72145OMIM:155310Visceral myopathy 1.23
HP:0000006HP:0000006Autosomal dominant inheritance0ACTL6B CL E G H51412160OMIM:618470Intellectual developmental disorder with severe speech and ambulation defects.2
HP:0000006HP:0000006Autosomal dominant inheritance0ACTN1 CL E G H87163OMIM:615193BLEEDING DISORDER, PLATELET-TYPE, 15; BDPLT159
HP:0000006HP:0000006Autosomal dominant inheritance0ACTN2 CL E G H88164OMIM:612158Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction307
HP:0000006HP:0000006Autosomal dominant inheritance0ACTN2 CL E G H88164OMIM:618654MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ307
HP:0000006HP:0000006Autosomal dominant inheritance0ACTN2 CL E G H88164OMIM:618655MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6307
HP:0000006HP:0000006Autosomal dominant inheritance0ACTN4 CL E G H81166OMIM:603278Focal segmental glomerulosclerosis 1.27
HP:0000006HP:0000006Autosomal dominant inheritance0ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressiva.49
HP:0000006HP:0000006Autosomal dominant inheritance0ACVR2B CL E G H93174OMIM:613751Heterotaxy, visceral, 4, autosomal.161
HP:0000006HP:0000006Autosomal dominant inheritance0ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2.178
HP:0000006HP:0000006Autosomal dominant inheritance0ADAM10 CL E G H102188OMIM:615537Reticulate acropigmentation of kitamura.7
HP:0000006HP:0000006Autosomal dominant inheritance0ADAR CL E G H103225OMIM:127400Dyschromatosis symmetrica hereditaria 1.116
HP:0000006HP:0000006Autosomal dominant inheritance0ADCY10 CL E G H5581121285OMIM:143870Hypercalciuria, absorptive, susceptibility to5
HP:0000006HP:0000006Autosomal dominant inheritance0ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymia.25
HP:0000006HP:0000006Autosomal dominant inheritance0ADGRE2 CL E G H308173337OMIM:125630Dermodistortive urticaria.2
HP:0000006HP:0000006Autosomal dominant inheritance0ADGRL1 CL E G H2285920973OMIM:620065
HP:0000006HP:0000006Autosomal dominant inheritance0ADGRV1 CL E G H8405917416OMIM:604352Febrile seizures, familial, 4.530
HP:0000006HP:0000006Autosomal dominant inheritance0ADH1C CL E G H126251OMIM:168600Parkinson disease, late-onset.4
HP:0000006HP:0000006Autosomal dominant inheritance0ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome.47
HP:0000006HP:0000006Autosomal dominant inheritance0ADRB2 CL E G H154286OMIM:600807Asthma, susceptibility to.5
HP:0000006HP:0000006Autosomal dominant inheritance0ADRB2 CL E G H154286OMIM:601665OBESITY.5
HP:0000006HP:0000006Autosomal dominant inheritance0ADRB3 CL E G H155288OMIM:601665OBESITY.1
HP:0000006HP:0000006Autosomal dominant inheritance0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0000006HP:0000006Autosomal dominant inheritance0AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome.6
HP:0000006HP:0000006Autosomal dominant inheritance0AFG3L2 CL E G H10939315OMIM:618977OPTIC ATROPHY 12; OPA1286
HP:0000006HP:0000006Autosomal dominant inheritance0AFG3L2 CL E G H10939315OMIM:610246Spinocerebellar ataxia 28.86
HP:0000006HP:0000006Autosomal dominant inheritance0AGBL1 CL E G H12362426504OMIM:615523Corneal dystrophy, fuchs endothelial, 8.3
HP:0000006HP:0000006Autosomal dominant inheritance0AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000006HP:0000006Autosomal dominant inheritance0AGRP CL E G H181330OMIM:601665OBESITY.1
HP:0000006HP:0000006Autosomal dominant inheritance0AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome.36
HP:0000006HP:0000006Autosomal dominant inheritance0AIP CL E G H9049358OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.95
HP:0000006HP:0000006Autosomal dominant inheritance0AIP CL E G H9049358OMIM:102200Pituitary adenoma, growth hormone-secreting, 1.95
HP:0000006HP:0000006Autosomal dominant inheritance0AIPL1 CL E G H23746359OMIM:604393Leber congenital amaurosis 4.114
HP:0000006HP:0000006Autosomal dominant inheritance0AIPL1 CL E G H23746359OMIM:268000Retinitis pigmentosa.114
HP:0000006HP:0000006Autosomal dominant inheritance0AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0000006HP:0000006Autosomal dominant inheritance0AKAP9 CL E G H10142379OMIM:611820Long QT syndrome 11.289
HP:0000006HP:0000006Autosomal dominant inheritance0AKT1 CL E G H207391OMIM:114480Breast cancer.54
HP:0000006HP:0000006Autosomal dominant inheritance0AKT1 CL E G H207391OMIM:114500Colorectal cancer.54
HP:0000006HP:0000006Autosomal dominant inheritance0AKT1 CL E G H207391OMIM:615109Cowden syndrome 654
HP:0000006HP:0000006Autosomal dominant inheritance0AKT1 CL E G H207391OMIM:167000Ovarian cancer.54
HP:0000006HP:0000006Autosomal dominant inheritance0AKT2 CL E G H208392OMIM:125853Diabetes mellitus, noninsulin-dependent.12
HP:0000006HP:0000006Autosomal dominant inheritance0AKT2 CL E G H208392OMIM:240900Hypoinsulinemic hypoglycemia with hemihypertrophy.12
HP:0000006HP:0000006Autosomal dominant inheritance0AKT3 CL E G H10000393OMIM:615937Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2.19
HP:0000006HP:0000006Autosomal dominant inheritance0ALDH18A1 CL E G H58329722OMIM:616603Cutis laxa, autosomal dominant 3.89
HP:0000006HP:0000006Autosomal dominant inheritance0ALDH18A1 CL E G H58329722OMIM:601162Spastic paraplegia 9A, autosomal dominant.89
HP:0000006HP:0000006Autosomal dominant inheritance0ALDH2 CL E G H217404OMIM:610251Alcohol sensitivity, acute.1
HP:0000006HP:0000006Autosomal dominant inheritance0ALG10B CL E G H14424531088OMIM:613688Long QT syndrome 2.3
HP:0000006HP:0000006Autosomal dominant inheritance0ALG5 CL E G H2988020266OMIM:620056
HP:0000006HP:0000006Autosomal dominant inheritance0ALG8 CL E G H7905323161OMIM:617874POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS; PCLD346
HP:0000006HP:0000006Autosomal dominant inheritance0ALOX5 CL E G H240435OMIM:600807Asthma, susceptibility to.4
HP:0000006HP:0000006Autosomal dominant inheritance0ALPK1 CL E G H8021620917OMIM:614979Splenomegaly, cytopenia, and vision loss.
HP:0000006HP:0000006Autosomal dominant inheritance0ALPL CL E G H249438OMIM:146300Hypophosphatasia, adult.126
HP:0000006HP:0000006Autosomal dominant inheritance0ALX4 CL E G H60529450OMIM:615529Craniosynostosis 5, susceptibility to.132
HP:0000006HP:0000006Autosomal dominant inheritance0ALX4 CL E G H60529450OMIM:609597Parietal foramina 2.132
HP:0000006HP:0000006Autosomal dominant inheritance0AMTN CL E G H40113833188OMIM:617607AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B1
HP:0000006HP:0000006Autosomal dominant inheritance0ANG CL E G H283483OMIM:611895Amyotrophic lateral sclerosis 932
HP:0000006HP:0000006Autosomal dominant inheritance0ANGPT1 CL E G H284484OMIM:619361ANGIOEDEMA, HEREDITARY, 5; HAE55
HP:0000006HP:0000006Autosomal dominant inheritance0ANGPT2 CL E G H285485OMIM:619369LYMPHATIC MALFORMATION 10; LMPHM10
HP:0000006HP:0000006Autosomal dominant inheritance0ANGPTL4 CL E G H5112916039OMIM:615881PLASMA TRIGLYCERIDE LEVEL QUANTITATIVE TRAIT LOCUS; TGQTL2
HP:0000006HP:0000006Autosomal dominant inheritance0ANK1 CL E G H286492OMIM:182900Spherocytosis, type 1.150
HP:0000006HP:0000006Autosomal dominant inheritance0ANK2 CL E G H287493OMIM:600919Cardiac arrhythmia, ankyrin-b-related.539
HP:0000006HP:0000006Autosomal dominant inheritance0ANKH CL E G H5617215492OMIM:118600Chondrocalcinosis 2.164
HP:0000006HP:0000006Autosomal dominant inheritance0ANKH CL E G H5617215492OMIM:123000Craniometaphyseal dysplasia, autosomal dominant.164
HP:0000006HP:0000006Autosomal dominant inheritance0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome.102
HP:0000006HP:0000006Autosomal dominant inheritance0ANKRD17 CL E G H2605723575OMIM:619504CHOPRA-AMIEL-GORDON SYNDROME; CAGS2
HP:0000006HP:0000006Autosomal dominant inheritance0ANKRD26 CL E G H2285229186OMIM:188000THROMBOCYTOPENIA 2; THC2106
HP:0000006HP:0000006Autosomal dominant inheritance0ANLN CL E G H5444314082OMIM:616032Focal segmental glomerulosclerosis 8.6
HP:0000006HP:0000006Autosomal dominant inheritance0ANO3 CL E G H6398214004OMIM:615034Dystonia 24.17
HP:0000006HP:0000006Autosomal dominant inheritance0ANO5 CL E G H20385927337OMIM:166260Gnathodiaphyseal dysplasia.304
HP:0000006HP:0000006Autosomal dominant inheritance0ANTXR1 CL E G H8416821014OMIM:602089Hemangioma, capillary infantile.8
HP:0000006HP:0000006Autosomal dominant inheritance0ANXA11 CL E G H311535OMIM:617839Amyotrophic lateral sclerosis 23.
HP:0000006HP:0000006Autosomal dominant inheritance0ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0000006HP:0000006Autosomal dominant inheritance0ANXA5 CL E G H308543OMIM:614391Pregnancy loss, recurrent, susceptibility to, 3.1
HP:0000006HP:0000006Autosomal dominant inheritance0AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000006HP:0000006Autosomal dominant inheritance0AP1S3 CL E G H13034018971OMIM:616106Psoriasis 15, pustular, susceptibility to2
HP:0000006HP:0000006Autosomal dominant inheritance0AP2M1 CL E G H1173564OMIM:618587INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0000006HP:0000006Autosomal dominant inheritance0AP2S1 CL E G H1175565OMIM:600740Hypocalciuric hypercalcemia, familial, type III.6
HP:0000006HP:0000006Autosomal dominant inheritance0AP4E1 CL E G H23431573OMIM:184450Stuttering, familial persistent, 1.48
HP:0000006HP:0000006Autosomal dominant inheritance0APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0000006HP:0000006Autosomal dominant inheritance0APC CL E G H324583OMIM:114500Colorectal cancer.3179
HP:0000006HP:0000006Autosomal dominant inheritance0APC CL E G H324583OMIM:135290Desmoid disease, hereditary.3179
HP:0000006HP:0000006Autosomal dominant inheritance0APC CL E G H324583OMIM:619182GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH; GAPPS3179
HP:0000006HP:0000006Autosomal dominant inheritance0APCDD1 CL E G H14749515718OMIM:605389Hypotrichosis 1.1
HP:0000006HP:0000006Autosomal dominant inheritance0APOA1 CL E G H335600OMIM:105200Amyloidosis, familial visceral.40
HP:0000006HP:0000006Autosomal dominant inheritance0APOA1 CL E G H335600OMIM:619836HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE40
HP:0000006HP:0000006Autosomal dominant inheritance0APOA2 CL E G H336601OMIM:143890Hypercholesterolemia, familial, 19
HP:0000006HP:0000006Autosomal dominant inheritance0APOA5 CL E G H11651917288OMIM:144650Hyperlipoproteinemia, type V.7
HP:0000006HP:0000006Autosomal dominant inheritance0APOA5 CL E G H11651917288OMIM:145750Hypertriglyceridemia, familial.7
HP:0000006HP:0000006Autosomal dominant inheritance0APOB CL E G H338603OMIM:144010Hypercholesterolemia, familial, 2356
HP:0000006HP:0000006Autosomal dominant inheritance0APOE CL E G H348613OMIM:104310Alzheimer disease 2.39
HP:0000006HP:0000006Autosomal dominant inheritance0APOE CL E G H348613OMIM:607822Alzheimer disease 3.39
HP:0000006HP:0000006Autosomal dominant inheritance0APOE CL E G H348613OMIM:606889Alzheimer disease 439
HP:0000006HP:0000006Autosomal dominant inheritance0APOE CL E G H348613OMIM:603075Macular degeneration, age-related, 139
HP:0000006HP:0000006Autosomal dominant inheritance0APOL2 CL E G H23780619OMIM:181500SCHIZOPHRENIA.
HP:0000006HP:0000006Autosomal dominant inheritance0APOL4 CL E G H8083214867OMIM:181500SCHIZOPHRENIA.
HP:0000006HP:0000006Autosomal dominant inheritance0APP CL E G H351620OMIM:104300Alzheimer disease.74
HP:0000006HP:0000006Autosomal dominant inheritance0APP CL E G H351620OMIM:605714Cerebral amyloid angiopathy, APP-related.74
HP:0000006HP:0000006Autosomal dominant inheritance0APPL1 CL E G H2606024035OMIM:616511Maturity-onset diabetes of the young, type 14.2
HP:0000006HP:0000006Autosomal dominant inheritance0AQP2 CL E G H359634OMIM:125800Diabetes insipidus, nephrogenic, 2.75
HP:0000006HP:0000006Autosomal dominant inheritance0AQP5 CL E G H362638OMIM:600231PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB5
HP:0000006HP:0000006Autosomal dominant inheritance0AR CL E G H367644OMIM:176807Prostate cancer.125
HP:0000006HP:0000006Autosomal dominant inheritance0ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay.3
HP:0000006HP:0000006Autosomal dominant inheritance0ARF1 CL E G H375652OMIM:618185Periventricular nodular heterotopia 8.
HP:0000006HP:0000006Autosomal dominant inheritance0ARFGEF1 CL E G H1056515772OMIM:619964
HP:0000006HP:0000006Autosomal dominant inheritance0ARHGAP26 CL E G H2309217073OMIM:607785Juvenile myelomonocytic leukemia.12
HP:0000006HP:0000006Autosomal dominant inheritance0ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1147
HP:0000006HP:0000006Autosomal dominant inheritance0ARHGEF10 CL E G H963914103OMIM:608236Slowed nerve conduction velocity, autosomal dominant.12
HP:0000006HP:0000006Autosomal dominant inheritance0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 2.88
HP:0000006HP:0000006Autosomal dominant inheritance0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0000006HP:0000006Autosomal dominant inheritance0ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 625
HP:0000006HP:0000006Autosomal dominant inheritance0ARL2 CL E G H402693OMIM:619082MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1; MRCS1
HP:0000006HP:0000006Autosomal dominant inheritance0ARL3 CL E G H403694OMIM:618173RETINITIS PIGMENTOSA 83; RP831
HP:0000006HP:0000006Autosomal dominant inheritance0ARL6 CL E G H8410013210OMIM:268000Retinitis pigmentosa.29
HP:0000006HP:0000006Autosomal dominant inheritance0ARMC5 CL E G H7979825781OMIM:615954ACTH-independent macronodular adrenal hyperplasia 27
HP:0000006HP:0000006Autosomal dominant inheritance0ARPC4 CL E G H10093707OMIM:620141
HP:0000006HP:0000006Autosomal dominant inheritance0ASB10 CL E G H13637117185OMIM:603383GLAUCOMA 1, OPEN ANGLE, F; GLC1F54
HP:0000006HP:0000006Autosomal dominant inheritance0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 52.1
HP:0000006HP:0000006Autosomal dominant inheritance0ASPN CL E G H5482914872OMIM:607850Hand osteoarthritis.2
HP:0000006HP:0000006Autosomal dominant inheritance0ASPRV1 CL E G H15151626321OMIM:146750Ichthyosis, lamellar, autosomal dominant.1
HP:0000006HP:0000006Autosomal dominant inheritance0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0000006HP:0000006Autosomal dominant inheritance0ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome.7
HP:0000006HP:0000006Autosomal dominant inheritance0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000006HP:0000006Autosomal dominant inheritance0ATAD3A CL E G H5521025567OMIM:617183Harel-Yoon syndrome.5
HP:0000006HP:0000006Autosomal dominant inheritance0ATL1 CL E G H5106211231OMIM:613708Neuropathy, hereditary sensory, type ID.71
HP:0000006HP:0000006Autosomal dominant inheritance0ATL1 CL E G H5106211231OMIM:182600Spastic paraplegia 3, autosomal dominant.71
HP:0000006HP:0000006Autosomal dominant inheritance0ATL3 CL E G H2592324526OMIM:615632Neuropathy, hereditary sensory, type IF.5
HP:0000006HP:0000006Autosomal dominant inheritance0ATM CL E G H472795OMIM:114480Breast cancer.3267
HP:0000006HP:0000006Autosomal dominant inheritance0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies.16
HP:0000006HP:0000006Autosomal dominant inheritance0ATN1 CL E G H18223033OMIM:125370Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia.16
HP:0000006HP:0000006Autosomal dominant inheritance0ATP11A CL E G H2325013552OMIM:619810DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84
HP:0000006HP:0000006Autosomal dominant inheritance0ATP1A1 CL E G H476799OMIM:618036Charcot-Marie-Tooth disease, axonal, type 2DD.4
HP:0000006HP:0000006Autosomal dominant inheritance0ATP1A1 CL E G H476799OMIM:618314Hypomagnesemia, seizures, and mental retardation 2.4
HP:0000006HP:0000006Autosomal dominant inheritance0ATP1A2 CL E G H477800OMIM:104290Alternating hemiplegia of childhood 1.239
HP:0000006HP:0000006Autosomal dominant inheritance0ATP1A2 CL E G H477800OMIM:619605DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98239
HP:0000006HP:0000006Autosomal dominant inheritance0ATP1A2 CL E G H477800OMIM:602481Migraine, familial hemiplegic, 2.239
HP:0000006HP:0000006Autosomal dominant inheritance0ATP1A3 CL E G H478801OMIM:614820Alternating hemiplegia of childhood 2.150
HP:0000006HP:0000006Autosomal dominant inheritance0ATP1A3 CL E G H478801OMIM:601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss.150
HP:0000006HP:0000006Autosomal dominant inheritance0ATP1A3 CL E G H478801OMIM:619606DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99150
HP:0000006HP:0000006Autosomal dominant inheritance0ATP1A3 CL E G H478801OMIM:128235Dystonia 12.150
HP:0000006HP:0000006Autosomal dominant inheritance0ATP2A2 CL E G H488812OMIM:101900Acrokeratosis verruciformis.86
HP:0000006HP:0000006Autosomal dominant inheritance0ATP2A2 CL E G H488812OMIM:124200Darier-White disease.86
HP:0000006HP:0000006Autosomal dominant inheritance0ATP2B1 CL E G H490814OMIM:619910
HP:0000006HP:0000006Autosomal dominant inheritance0ATP2B2 CL E G H491815OMIM:619804DEAFNESS, AUTOSOMAL DOMINANT 82; DFNA825
HP:0000006HP:0000006Autosomal dominant inheritance0ATP2C1 CL E G H2703213211OMIM:169600Benign chronic pemphigus.56
HP:0000006HP:0000006Autosomal dominant inheritance0ATP5MC3 CL E G H518843OMIM:619681DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0000006HP:0000006Autosomal dominant inheritance0ATP6V0A1 CL E G H535865OMIM:6199701
HP:0000006HP:0000006Autosomal dominant inheritance0ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 3.3
HP:0000006HP:0000006Autosomal dominant inheritance0ATP6V1B2 CL E G H526854OMIM:124480Deafness, congenital, and onychodystrophy, autosomal dominant.5
HP:0000006HP:0000006Autosomal dominant inheritance0ATP6V1B2 CL E G H526854OMIM:616455Zimmermann-Laband syndrome 2.5
HP:0000006HP:0000006Autosomal dominant inheritance0ATP8B1 CL E G H52053706OMIM:147480Cholestasis, intrahepatic, of pregnancy, 1.144
HP:0000006HP:0000006Autosomal dominant inheritance0ATR CL E G H545882OMIM:614564Cutaneous telangiectasia and cancer syndrome, familial.168
HP:0000006HP:0000006Autosomal dominant inheritance0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 119
HP:0000006HP:0000006Autosomal dominant inheritance0ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 10.9
HP:0000006HP:0000006Autosomal dominant inheritance0ATXN2 CL E G H631110555OMIM:168600Parkinson disease, late-onset.11
HP:0000006HP:0000006Autosomal dominant inheritance0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0000006HP:0000006Autosomal dominant inheritance0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease.14
HP:0000006HP:0000006Autosomal dominant inheritance0ATXN7 CL E G H631410560OMIM:164500Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II.8
HP:0000006HP:0000006Autosomal dominant inheritance0ATXN8 CL E G H72406632925OMIM:608768Spinocerebellar ataxia 8.1
HP:0000006HP:0000006Autosomal dominant inheritance0ATXN8OS CL E G H631510561OMIM:168600Parkinson disease, late-onset.1
HP:0000006HP:0000006Autosomal dominant inheritance0ATXN8OS CL E G H631510561OMIM:608768Spinocerebellar ataxia 8.1
HP:0000006HP:0000006Autosomal dominant inheritance0AURKA CL E G H679011393OMIM:114500Colorectal cancer.1
HP:0000006HP:0000006Autosomal dominant inheritance0AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 26.61
HP:0000006HP:0000006Autosomal dominant inheritance0AVP CL E G H551894OMIM:125700Diabetes insipidus, Neurohypophyseal type.22
HP:0000006HP:0000006Autosomal dominant inheritance0AXIN2 CL E G H8313904OMIM:114500Colorectal cancer.435
HP:0000006HP:0000006Autosomal dominant inheritance0AXIN2 CL E G H8313904OMIM:608615OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS435
HP:0000006HP:0000006Autosomal dominant inheritance0B2M CL E G H567914OMIM:105200Amyloidosis, familial visceral.8
HP:0000006HP:0000006Autosomal dominant inheritance0BACH2 CL E G H6046814078OMIM:618394IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0000006HP:0000006Autosomal dominant inheritance0BAG3 CL E G H9531939OMIM:613881Cardiomyopathy, dilated, 1hh.204
HP:0000006HP:0000006Autosomal dominant inheritance0BAG3 CL E G H9531939OMIM:612954Myopathy, myofibrillar, 6.204
HP:0000006HP:0000006Autosomal dominant inheritance0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0000006HP:0000006Autosomal dominant inheritance0BAP1 CL E G H8314950OMIM:606661MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2184
HP:0000006HP:0000006Autosomal dominant inheritance0BAP1 CL E G H8314950OMIM:614327Tumor predisposition syndrome.184
HP:0000006HP:0000006Autosomal dominant inheritance0BARD1 CL E G H580952OMIM:114480Breast cancer.790
HP:0000006HP:0000006Autosomal dominant inheritance0BAX CL E G H581959OMIM:114500Colorectal cancer.4
HP:0000006HP:0000006Autosomal dominant inheritance0BCL11A CL E G H5333513221OMIM:617101Intellectual developmental disorder with persistence of fetal hemoglobin.11
HP:0000006HP:0000006Autosomal dominant inheritance0BCL11B CL E G H6491913222OMIM:617237Immunodeficiency 49.3
HP:0000006HP:0000006Autosomal dominant inheritance0BCL11B CL E G H6491913222OMIM:618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES.3
HP:0000006HP:0000006Autosomal dominant inheritance0BCO1 CL E G H5363013815OMIM:115300Carotenemia, familial.2
HP:0000006HP:0000006Autosomal dominant inheritance0BEAN1 CL E G H14622724160OMIM:117210Spinocerebellar ataxia 31.1
HP:0000006HP:0000006Autosomal dominant inheritance0BEST1 CL E G H743912703OMIM:153700Macular dystrophy, vitelliform, 2.182
HP:0000006HP:0000006Autosomal dominant inheritance0BEST1 CL E G H743912703OMIM:613194Retinitis pigmentosa-50182
HP:0000006HP:0000006Autosomal dominant inheritance0BEST1 CL E G H743912703OMIM:193220VITREORETINOCHOROIDOPATHY.182
HP:0000006HP:0000006Autosomal dominant inheritance0BFSP1 CL E G H6311040OMIM:611391Cataract 33, multiple types.15
HP:0000006HP:0000006Autosomal dominant inheritance0BFSP2 CL E G H84191041OMIM:611597Cataract, autosomal dominant, multiple types 1.27
HP:0000006HP:0000006Autosomal dominant inheritance0BICC1 CL E G H8011419351OMIM:601331Renal dysplasia, cystic, susceptibility to.5
HP:0000006HP:0000006Autosomal dominant inheritance0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant.46
HP:0000006HP:0000006Autosomal dominant inheritance0BICD2 CL E G H2329917208OMIM:618291Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant.46
HP:0000006HP:0000006Autosomal dominant inheritance0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0000006HP:0000006Autosomal dominant inheritance0BLK CL E G H6401057OMIM:613375Maturity-onset diabetes of the young, type 11.75
HP:0000006HP:0000006Autosomal dominant inheritance0BLVRA CL E G H6441062OMIM:614156Hyperbiliverdinemia.2
HP:0000006HP:0000006Autosomal dominant inheritance0BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A213
HP:0000006HP:0000006Autosomal dominant inheritance0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.13
HP:0000006HP:0000006Autosomal dominant inheritance0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0000006HP:0000006Autosomal dominant inheritance0BMPR1A CL E G H6571076OMIM:174900Juvenile polyposis syndrome.385
HP:0000006HP:0000006Autosomal dominant inheritance0BMPR1A CL E G H6571076OMIM:610069POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2385
HP:0000006HP:0000006Autosomal dominant inheritance0BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0000006HP:0000006Autosomal dominant inheritance0BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A290
HP:0000006HP:0000006Autosomal dominant inheritance0BMPR2 CL E G H6591078OMIM:178600Pulmonary hypertension, primary, 1.525
HP:0000006HP:0000006Autosomal dominant inheritance0BMPR2 CL E G H6591078OMIM:265450PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1525
HP:0000006HP:0000006Autosomal dominant inheritance0BMS1 CL E G H979023505OMIM:107600APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC1
HP:0000006HP:0000006Autosomal dominant inheritance0BNC1 CL E G H6461081OMIM:618723PREMATURE OVARIAN FAILURE 16; POF16
HP:0000006HP:0000006Autosomal dominant inheritance0BNC2 CL E G H5479630988OMIM:618612LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO22
HP:0000006HP:0000006Autosomal dominant inheritance0BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0000006HP:0000006Autosomal dominant inheritance0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0000006HP:0000006Autosomal dominant inheritance0BRAF CL E G H6731097OMIM:114500Colorectal cancer.276
HP:0000006HP:0000006Autosomal dominant inheritance0BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0000006HP:0000006Autosomal dominant inheritance0BRAF CL E G H6731097OMIM:211980Lung cancer, susceptibility to.276
HP:0000006HP:0000006Autosomal dominant inheritance0BRAF CL E G H6731097OMIM:155600Melanoma, cutaneous malignant.276
HP:0000006HP:0000006Autosomal dominant inheritance0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0000006HP:0000006Autosomal dominant inheritance0BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0000006HP:0000006Autosomal dominant inheritance0BRCA1 CL E G H6721100OMIM:114480Breast cancer.5769
HP:0000006HP:0000006Autosomal dominant inheritance0BRCA1 CL E G H6721100OMIM:604370Breast-Ovarian cancer, familial, susceptibility to, 15769
HP:0000006HP:0000006Autosomal dominant inheritance0BRCA2 CL E G H6751101OMIM:114480Breast cancer.7642
HP:0000006HP:0000006Autosomal dominant inheritance0BRCA2 CL E G H6751101OMIM:612555Breast-Ovarian cancer, familial, susceptibility to, 2.7642
HP:0000006HP:0000006Autosomal dominant inheritance0BRCA2 CL E G H6751101OMIM:155255MEDULLOBLASTOMA.7642
HP:0000006HP:0000006Autosomal dominant inheritance0BRCA2 CL E G H6751101OMIM:176807Prostate cancer.7642
HP:0000006HP:0000006Autosomal dominant inheritance0BRCA2 CL E G H6751101OMIM:194070Wilms tumor 1.7642
HP:0000006HP:0000006Autosomal dominant inheritance0BRIP1 CL E G H8399020473OMIM:114480Breast cancer.1086
HP:0000006HP:0000006Autosomal dominant inheritance0BRPF1 CL E G H786214255OMIM:617333Intellectual developmental disorder with dysmorphic facies and ptosis.10
HP:0000006HP:0000006Autosomal dominant inheritance0BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0000006HP:0000006Autosomal dominant inheritance0BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17.105
HP:0000006HP:0000006Autosomal dominant inheritance0BTNL2 CL E G H562441142OMIM:612387Sarcoidosis, susceptibility to, 2.1
HP:0000006HP:0000006Autosomal dominant inheritance0BUB1 CL E G H6991148OMIM:114500Colorectal cancer.5
HP:0000006HP:0000006Autosomal dominant inheritance0BUB1B CL E G H7011149OMIM:114500Colorectal cancer.76
HP:0000006HP:0000006Autosomal dominant inheritance0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4.114
HP:0000006HP:0000006Autosomal dominant inheritance0C1QTNF5 CL E G H11490214344OMIM:605670Late-Onset retinal degeneration.20
HP:0000006HP:0000006Autosomal dominant inheritance0C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 1.15
HP:0000006HP:0000006Autosomal dominant inheritance0C1S CL E G H7161247OMIM:617174Ehlers-Danlos syndrome, periodontal type, 2.7
HP:0000006HP:0000006Autosomal dominant inheritance0C3 CL E G H7181318OMIM:612925Hemolytic uremic syndrome, atypical, susceptibility to, 5.92
HP:0000006HP:0000006Autosomal dominant inheritance0C9 CL E G H7351358OMIM:615591MACULAR DEGENERATION, AGE-RELATED, 15; ARMD1510
HP:0000006HP:0000006Autosomal dominant inheritance0C9ORF72 CL E G H20322828337OMIM:105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1.56
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1A CL E G H7731388OMIM:617106Epileptic encephalopathy, early infantile, 42.449
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1A CL E G H7731388OMIM:108500Episodic ataxia, type 2.449
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1A CL E G H7731388OMIM:141500Migraine, familial hemiplegic, 1.449
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1A CL E G H7731388OMIM:183086Spinocerebellar ataxia 6.449
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1C CL E G H7751390OMIM:620029572
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1C CL E G H7751390OMIM:611875BRUGADA SYNDROME 3; BRGDA3572
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1C CL E G H7751390OMIM:618447LONG QT SYNDROME 8; LQT8572
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1C CL E G H7751390OMIM:601005Timothy syndrome.572
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1D CL E G H7761391OMIM:615474Primary aldosteronism, seizures, and neurologic abnormalities.51
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1E CL E G H7771392OMIM:618285Developmental and epileptic encephalopathy 6911
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1G CL E G H89131394OMIM:616795Spinocerebellar ataxia 4232
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1G CL E G H89131394OMIM:618087Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits.32
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1H CL E G H89121395OMIM:617027Hyperaldosteronism, familial, type IV.75
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1S CL E G H7791397OMIM:170400Hypokalemic periodic paralysis, type 1.247
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1S CL E G H7791397OMIM:601887Malignant hyperthermia, susceptibility to, 5.247
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1S CL E G H7791397OMIM:188580Thyrotoxic periodic paralysis, susceptibility to, 1.247
HP:0000006HP:0000006Autosomal dominant inheritance0CACNB2 CL E G H7831402OMIM:611876BRUGADA SYNDROME 4; BRGDA4206
HP:0000006HP:0000006Autosomal dominant inheritance0CACNB4 CL E G H7851404OMIM:607682Epilepsy, idiopathic generalized, susceptibility to, 9.146
HP:0000006HP:0000006Autosomal dominant inheritance0CACNB4 CL E G H7851404OMIM:613855Episodic ataxia, type 5.146
HP:0000006HP:0000006Autosomal dominant inheritance0CACNG2 CL E G H103691406OMIM:614256Mental retardation, autosomal dominant 10.5
HP:0000006HP:0000006Autosomal dominant inheritance0CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0000006HP:0000006Autosomal dominant inheritance0CALCR CL E G H7991440OMIM:166710OSTEOPOROSIS.1
HP:0000006HP:0000006Autosomal dominant inheritance0CALM1 CL E G H8011442OMIM:616247Long QT syndrome 1418
HP:0000006HP:0000006Autosomal dominant inheritance0CALM1 CL E G H8011442OMIM:614916Ventricular tachycardia, catecholaminergic polymorphic, 4.18
HP:0000006HP:0000006Autosomal dominant inheritance0CALM2 CL E G H8051445OMIM:616249Long QT syndrome 15.13
HP:0000006HP:0000006Autosomal dominant inheritance0CALM3 CL E G H8081449OMIM:618782LONG QT SYNDROME 16; LQT1616
HP:0000006HP:0000006Autosomal dominant inheritance0CALR CL E G H8111455OMIM:187950THROMBOCYTHEMIA 1; THCYT11
HP:0000006HP:0000006Autosomal dominant inheritance0CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 53.1
HP:0000006HP:0000006Autosomal dominant inheritance0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54.
HP:0000006HP:0000006Autosomal dominant inheritance0CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 59.1
HP:0000006HP:0000006Autosomal dominant inheritance0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation.34
HP:0000006HP:0000006Autosomal dominant inheritance0CAPN3 CL E G H8251480OMIM:618129Muscular dystrophy, limb-girdle, autosomal dominant 4.323
HP:0000006HP:0000006Autosomal dominant inheritance0CAPN5 CL E G H7261482OMIM:193235Vitreoretinopathy, neovascular inflammatory.6
HP:0000006HP:0000006Autosomal dominant inheritance0CARD11 CL E G H8443316393OMIM:616452B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA45
HP:0000006HP:0000006Autosomal dominant inheritance0CARD11 CL E G H8443316393OMIM:617638Immunodeficiency 11B with atopic dermatitis.45
HP:0000006HP:0000006Autosomal dominant inheritance0CARD14 CL E G H7909216446OMIM:173200Pityriasis rubra pilaris33
HP:0000006HP:0000006Autosomal dominant inheritance0CARD14 CL E G H7909216446OMIM:602723PSORIASIS 2; PSORS233
HP:0000006HP:0000006Autosomal dominant inheritance0CARD8 CL E G H2290017057OMIM:619079INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD301
HP:0000006HP:0000006Autosomal dominant inheritance0CARTPT CL E G H960724323OMIM:601665OBESITY.1
HP:0000006HP:0000006Autosomal dominant inheritance0CASP10 CL E G H8431500OMIM:603909Autoimmune lymphoproliferative syndrome, type IIA87
HP:0000006HP:0000006Autosomal dominant inheritance0CASP8 CL E G H8411509OMIM:114480Breast cancer.37
HP:0000006HP:0000006Autosomal dominant inheritance0CASP8 CL E G H8411509OMIM:211980Lung cancer, susceptibility to.37
HP:0000006HP:0000006Autosomal dominant inheritance0CASQ1 CL E G H8441512OMIM:616231Myopathy, vacuolar, with CASQ1 aggregates.5
HP:0000006HP:0000006Autosomal dominant inheritance0CASQ2 CL E G H8451513OMIM:604772VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1129
HP:0000006HP:0000006Autosomal dominant inheritance0CASR CL E G H8461514OMIM:239200Hyperparathyroidism, neonatal severe.272
HP:0000006HP:0000006Autosomal dominant inheritance0CASR CL E G H8461514OMIM:601198Hypocalcemia, autosomal dominant 1272
HP:0000006HP:0000006Autosomal dominant inheritance0CASR CL E G H8461514OMIM:145980Hypocalciuric hypercalcemia, familial, type I.272
HP:0000006HP:0000006Autosomal dominant inheritance0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 7.11
HP:0000006HP:0000006Autosomal dominant inheritance0CAV1 CL E G H8571527OMIM:615343Pulmonary hypertension, primary, 3.11
HP:0000006HP:0000006Autosomal dominant inheritance0CAV3 CL E G H8591529OMIM:192600Cardiomyopathy, familial hypertrophic 1.148
HP:0000006HP:0000006Autosomal dominant inheritance0CAV3 CL E G H8591529OMIM:123320Creatine phosphokinase, elevated serum.148
HP:0000006HP:0000006Autosomal dominant inheritance0CAV3 CL E G H8591529OMIM:611818Long QT syndrome 9148
HP:0000006HP:0000006Autosomal dominant inheritance0CAV3 CL E G H8591529OMIM:614321Myopathy, distal, Tateyama type.148
HP:0000006HP:0000006Autosomal dominant inheritance0CAV3 CL E G H8591529OMIM:606072Rippling muscle disease148
HP:0000006HP:0000006Autosomal dominant inheritance0CBL CL E G H8671541OMIM:607785Juvenile myelomonocytic leukemia.317
HP:0000006HP:0000006Autosomal dominant inheritance0CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia.317
HP:0000006HP:0000006Autosomal dominant inheritance0CCDC50 CL E G H15213718111OMIM:607453DEAFNESS, AUTOSOMAL DOMINANT 44; DFNA4435
HP:0000006HP:0000006Autosomal dominant inheritance0CCDC78 CL E G H12409314153OMIM:614807Myopathy, centronuclear, 4.25
HP:0000006HP:0000006Autosomal dominant inheritance0CCDC88C CL E G H44019319967OMIM:616053Spinocerebellar ataxia 40.54
HP:0000006HP:0000006Autosomal dominant inheritance0CCL11 CL E G H635610610OMIM:600807Asthma, susceptibility to.2
HP:0000006HP:0000006Autosomal dominant inheritance0CCL2 CL E G H634710618OMIM:182940Neural tube defects, susceptibility to.3
HP:0000006HP:0000006Autosomal dominant inheritance0CCM2 CL E G H8360521708OMIM:603284Cerebral cavernous malformations-237
HP:0000006HP:0000006Autosomal dominant inheritance0CCND1 CL E G H5951582OMIM:114500Colorectal cancer.1
HP:0000006HP:0000006Autosomal dominant inheritance0CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome.1
HP:0000006HP:0000006Autosomal dominant inheritance0CCND2 CL E G H8941583OMIM:615938Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3.11
HP:0000006HP:0000006Autosomal dominant inheritance0CCNF CL E G H8991591OMIM:619141FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0000006HP:0000006Autosomal dominant inheritance0CCNK CL E G H88121596OMIM:618147Intellectual developmental disorder with hypertelorism and distinctive facies.3
HP:0000006HP:0000006Autosomal dominant inheritance0CD164 CL E G H87631632OMIM:616969DEAFNESS, AUTOSOMAL DOMINANT 66; DFNA661
HP:0000006HP:0000006Autosomal dominant inheritance0CD19 CL E G H9301633OMIM:240500Immunodeficiency, common variable, 238
HP:0000006HP:0000006Autosomal dominant inheritance0CD46 CL E G H41796953OMIM:612922Hemolytic uremic syndrome, atypical, susceptibility to, 2.39
HP:0000006HP:0000006Autosomal dominant inheritance0CD96 CL E G H1022516892OMIM:211750C syndrome.83
HP:0000006HP:0000006Autosomal dominant inheritance0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome.6
HP:0000006HP:0000006Autosomal dominant inheritance0CDC42BPB CL E G H95781738OMIM:619841
HP:0000006HP:0000006Autosomal dominant inheritance0CDC73 CL E G H7957716783OMIM:145000Hyperparathyroidism 1.169
HP:0000006HP:0000006Autosomal dominant inheritance0CDC73 CL E G H7957716783OMIM:145001Hyperparathyroidism 2.169
HP:0000006HP:0000006Autosomal dominant inheritance0CDC73 CL E G H7957716783OMIM:608266Parathyroid carcinoma169
HP:0000006HP:0000006Autosomal dominant inheritance0CDH1 CL E G H9991748OMIM:119580Blepharocheilodontic syndrome 1.1003
HP:0000006HP:0000006Autosomal dominant inheritance0CDH1 CL E G H9991748OMIM:114480Breast cancer.1003
HP:0000006HP:0000006Autosomal dominant inheritance0CDH1 CL E G H9991748OMIM:608089Endometrial carcinoma, somatic.1003
HP:0000006HP:0000006Autosomal dominant inheritance0CDH1 CL E G H9991748OMIM:137215Gastric cancer, hereditary diffuse.1003
HP:0000006HP:0000006Autosomal dominant inheritance0CDH1 CL E G H9991748OMIM:167000Ovarian cancer.1003
HP:0000006HP:0000006Autosomal dominant inheritance0CDH1 CL E G H9991748OMIM:176807Prostate cancer.1003
HP:0000006HP:0000006Autosomal dominant inheritance0CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0000006HP:0000006Autosomal dominant inheritance0CDH15 CL E G H10131754OMIM:612580MENTAL RETARDATION, AUTOSOMAL DOMINANT 3; MRD353
HP:0000006HP:0000006Autosomal dominant inheritance0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000006HP:0000006Autosomal dominant inheritance0CDH2 CL E G H10001759OMIM:618920ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0000006HP:0000006Autosomal dominant inheritance0CDH23 CL E G H6407213733OMIM:617540Pituitary adenoma 5, multiple types.636
HP:0000006HP:0000006Autosomal dominant inheritance0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder.8
HP:0000006HP:0000006Autosomal dominant inheritance0CDK19 CL E G H2309719338OMIM:618916DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0000006HP:0000006Autosomal dominant inheritance0CDK4 CL E G H10191773OMIM:609048Melanoma, cutaneous malignant, susceptibility to, 3.145
HP:0000006HP:0000006Autosomal dominant inheritance0CDK8 CL E G H10241779OMIM:618748INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000006HP:0000006Autosomal dominant inheritance0CDKN1B CL E G H10271785OMIM:610755Multiple endocrine neoplasia, type IV.102
HP:0000006HP:0000006Autosomal dominant inheritance0CDKN1C CL E G H10281786OMIM:130650Beckwith-Wiedemann syndrome.114
HP:0000006HP:0000006Autosomal dominant inheritance0CDKN1C CL E G H10281786OMIM:614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies.114
HP:0000006HP:0000006Autosomal dominant inheritance0CDKN2A CL E G H10291787OMIM:155601Melanoma, cutaneous malignant, susceptibility to, 2.289
HP:0000006HP:0000006Autosomal dominant inheritance0CDKN2A CL E G H10291787OMIM:155755Melanoma-Astrocytoma syndrome.289
HP:0000006HP:0000006Autosomal dominant inheritance0CDKN2A CL E G H10291787OMIM:606719Melanoma-Pancreatic cancer syndrome.289
HP:0000006HP:0000006Autosomal dominant inheritance0CDON CL E G H5093717104OMIM:614226Holoprosencephaly 11200
HP:0000006HP:0000006Autosomal dominant inheritance0CDSN CL E G H10411802OMIM:146520Hypotrichosis 2.7
HP:0000006HP:0000006Autosomal dominant inheritance0CEACAM16 CL E G H38855131948OMIM:614614Deafness, autosomal dominant 4B.30
HP:0000006HP:0000006Autosomal dominant inheritance0CEBPA CL E G H10501833OMIM:601626Leukemia, acute myeloid.65
HP:0000006HP:0000006Autosomal dominant inheritance0CEL CL E G H10561848OMIM:609812Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction.25
HP:0000006HP:0000006Autosomal dominant inheritance0CELA2A CL E G H6303624609OMIM:618620ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS41
HP:0000006HP:0000006Autosomal dominant inheritance0CELF2 CL E G H106592550OMIM:619561DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0000006HP:0000006Autosomal dominant inheritance0CELSR1 CL E G H96201850OMIM:619319LYMPHATIC MALFORMATION 9; LMPHM913
HP:0000006HP:0000006Autosomal dominant inheritance0CEP85L CL E G H38711921638OMIM:618873LISSENCEPHALY 10; LIS101
HP:0000006HP:0000006Autosomal dominant inheritance0CERT1 CL E G H100872205OMIM:616351Mental retardation, autosomal dominant 34.
HP:0000006HP:0000006Autosomal dominant inheritance0CES1 CL E G H10661863OMIM:618057DRUG METABOLISM, ALTERED, CES1-RELATED3
HP:0000006HP:0000006Autosomal dominant inheritance0CFAP418 CL E G H15765727232OMIM:268000Retinitis pigmentosa.
HP:0000006HP:0000006Autosomal dominant inheritance0CFAP43 CL E G H8021726684OMIM:236690Hydrocephalus, normal pressure, 16
HP:0000006HP:0000006Autosomal dominant inheritance0CFB CL E G H6291037OMIM:612924Hemolytic uremic syndrome, atypical, susceptibility to, 4.30
HP:0000006HP:0000006Autosomal dominant inheritance0CFC1 CL E G H5599718292OMIM:605376Heterotaxy, visceral, 2, autosomal.13
HP:0000006HP:0000006Autosomal dominant inheritance0CFH CL E G H30754883OMIM:126700Basal laminar drusen.86
HP:0000006HP:0000006Autosomal dominant inheritance0CFH CL E G H30754883OMIM:609814Complement factor H deficiency.86
HP:0000006HP:0000006Autosomal dominant inheritance0CFH CL E G H30754883OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.86
HP:0000006HP:0000006Autosomal dominant inheritance0CFH CL E G H30754883OMIM:610698Macular degeneration, age-related, 486
HP:0000006HP:0000006Autosomal dominant inheritance0CFHR1 CL E G H30784888OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.
HP:0000006HP:0000006Autosomal dominant inheritance0CFHR1 CL E G H30784888OMIM:603075Macular degeneration, age-related, 1
HP:0000006HP:0000006Autosomal dominant inheritance0CFHR3 CL E G H1087816980OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.
HP:0000006HP:0000006Autosomal dominant inheritance0CFHR3 CL E G H1087816980OMIM:603075Macular degeneration, age-related, 1
HP:0000006HP:0000006Autosomal dominant inheritance0CFHR5 CL E G H8149424668OMIM:614809Cfhr5 deficiency.47
HP:0000006HP:0000006Autosomal dominant inheritance0CFI CL E G H34265394OMIM:612923Hemolytic uremic syndrome, atypical, susceptibility to, 3.57
HP:0000006HP:0000006Autosomal dominant inheritance0CFI CL E G H34265394OMIM:615439Macular degeneration, age-related, 13.57
HP:0000006HP:0000006Autosomal dominant inheritance0CFTR CL E G H10801884OMIM:211400Bronchiectasis with or without elevated sweat chloride 1.1371
HP:0000006HP:0000006Autosomal dominant inheritance0CFTR CL E G H10801884OMIM:167800Pancreatitis, hereditary.1371
HP:0000006HP:0000006Autosomal dominant inheritance0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 40.16
HP:0000006HP:0000006Autosomal dominant inheritance0CHCHD10 CL E G H40091615559OMIM:615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2.11
HP:0000006HP:0000006Autosomal dominant inheritance0CHCHD10 CL E G H40091615559OMIM:616209Myopathy, isolated mitochondrial, autosomal dominant.11
HP:0000006HP:0000006Autosomal dominant inheritance0CHCHD10 CL E G H40091615559OMIM:615048Spinal muscular atrophy, Jokela type.11
HP:0000006HP:0000006Autosomal dominant inheritance0CHCHD2 CL E G H5114221645OMIM:616710Parkinson disease 22, autosomal dominant.3
HP:0000006HP:0000006Autosomal dominant inheritance0CHD1 CL E G H11051915OMIM:617682Pilarowski-Bjornsson syndrome.2
HP:0000006HP:0000006Autosomal dominant inheritance0CHD2 CL E G H11061917OMIM:615369EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC227
HP:0000006HP:0000006Autosomal dominant inheritance0CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome.2
HP:0000006HP:0000006Autosomal dominant inheritance0CHD4 CL E G H11081919OMIM:617159Sifrim-Hitz-Weiss syndrome.14
HP:0000006HP:0000006Autosomal dominant inheritance0CHD5 CL E G H2603816816OMIM:619873
HP:0000006HP:0000006Autosomal dominant inheritance0CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0000006HP:0000006Autosomal dominant inheritance0CHD7 CL E G H5563620626OMIM:612370Hypogonadotropic hypogonadism 5 with or without anosmia515
HP:0000006HP:0000006Autosomal dominant inheritance0CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0000006HP:0000006Autosomal dominant inheritance0CHEK2 CL E G H1120016627OMIM:114480Breast cancer.833
HP:0000006HP:0000006Autosomal dominant inheritance0CHEK2 CL E G H1120016627OMIM:114500Colorectal cancer.833
HP:0000006HP:0000006Autosomal dominant inheritance0CHEK2 CL E G H1120016627OMIM:609265LI-FRAUMENI SYNDROME 2; LFS2833
HP:0000006HP:0000006Autosomal dominant inheritance0CHEK2 CL E G H1120016627OMIM:176807Prostate cancer.833
HP:0000006HP:0000006Autosomal dominant inheritance0CHI3L1 CL E G H11161932OMIM:181500SCHIZOPHRENIA.1
HP:0000006HP:0000006Autosomal dominant inheritance0CHIC2 CL E G H265111935OMIM:601626Leukemia, acute myeloid.
HP:0000006HP:0000006Autosomal dominant inheritance0CHMP2B CL E G H2597824537OMIM:600795Frontotemporal dementia and/or amytrophic lateral sclerosis 742
HP:0000006HP:0000006Autosomal dominant inheritance0CHMP4B CL E G H12886616171OMIM:605387Cataract 31, multiple types4
HP:0000006HP:0000006Autosomal dominant inheritance0CHN1 CL E G H11231943OMIM:604356DUANE RETRACTION SYNDROME 2; DURS235
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channel.74
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel.74
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNA2 CL E G H11351956OMIM:610353Epilepsy, nocturnal frontal lobe, 4.188
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNA4 CL E G H11371958OMIM:600513Epilepsy, nocturnal frontal lobe, type 1225
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome.52
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel.53
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNB2 CL E G H11411962OMIM:605375EPILEPSY, NOCTURNAL FRONTAL LOBE, 3; ENFL388
HP:0000006HP:0000006Autosomal dominant inheritance0CHRND CL E G H11441965OMIM:616321Myasthenic syndrome, congenital, 3A, slow-channel.88
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel.139
HP:0000006HP:0000006Autosomal dominant inheritance0CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 45.39
HP:0000006HP:0000006Autosomal dominant inheritance0CILK1 CL E G H2285821219OMIM:617924Epilepsy, juvenile myoclonic, susceptibility to, 10.
HP:0000006HP:0000006Autosomal dominant inheritance0CITED2 CL E G H103701987OMIM:614433ATRIAL SEPTAL DEFECT 8; ASD85
HP:0000006HP:0000006Autosomal dominant inheritance0CITED2 CL E G H103701987OMIM:614431Ventricular septal defect 2.5
HP:0000006HP:0000006Autosomal dominant inheritance0CLCN1 CL E G H11802019OMIM:160800Myotonia congenita, autosomal dominant.133
HP:0000006HP:0000006Autosomal dominant inheritance0CLCN2 CL E G H11812020OMIM:607628Epilepsy with grand mal seizures on awakening.44
HP:0000006HP:0000006Autosomal dominant inheritance0CLCN2 CL E G H11812020OMIM:605635Hyperaldosteronism, familial, type II.44
HP:0000006HP:0000006Autosomal dominant inheritance0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0000006HP:0000006Autosomal dominant inheritance0CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000006HP:0000006Autosomal dominant inheritance0CLCN7 CL E G H11862025OMIM:618541Hypopigmentation, organomegaly, and delayed myelination and development.102
HP:0000006HP:0000006Autosomal dominant inheritance0CLCN7 CL E G H11862025OMIM:166600Osteopetrosis, autosomal dominant 2.102
HP:0000006HP:0000006Autosomal dominant inheritance0CLDN11 CL E G H50108514OMIM:619328Leukodystrophy, hypomyelinating, 22
HP:0000006HP:0000006Autosomal dominant inheritance0CLEC3B CL E G H712311891OMIM:619977
HP:0000006HP:0000006Autosomal dominant inheritance0CLPB CL E G H8157030664OMIM:6198353-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A38
HP:0000006HP:0000006Autosomal dominant inheritance0CLPB CL E G H8157030664OMIM:619813NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN938
HP:0000006HP:0000006Autosomal dominant inheritance0CLPX CL E G H108452088OMIM:618015Protoporphyria, erythropoietic, 2.
HP:0000006HP:0000006Autosomal dominant inheritance0CLRN1 CL E G H740112605OMIM:268000Retinitis pigmentosa.60
HP:0000006HP:0000006Autosomal dominant inheritance0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 56.1
HP:0000006HP:0000006Autosomal dominant inheritance0CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 2.1
HP:0000006HP:0000006Autosomal dominant inheritance0CNGA1 CL E G H12592148OMIM:268000Retinitis pigmentosa.44
HP:0000006HP:0000006Autosomal dominant inheritance0CNNM2 CL E G H54805103OMIM:613882Hypomagnesemia 6, renal.47
HP:0000006HP:0000006Autosomal dominant inheritance0CNNM2 CL E G H54805103OMIM:616418Hypomagnesemia, seizures, and mental retardation.47
HP:0000006HP:0000006Autosomal dominant inheritance0CNOT1 CL E G H230197877OMIM:618500Holoprosencephaly 12 with or without pancreatic agenesis.2
HP:0000006HP:0000006Autosomal dominant inheritance0CNOT1 CL E G H230197877OMIM:619033VISSERS-BODMER SYNDROME; VIBOS2
HP:0000006HP:0000006Autosomal dominant inheritance0CNOT2 CL E G H48487878OMIM:618608INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS2
HP:0000006HP:0000006Autosomal dominant inheritance0CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000006HP:0000006Autosomal dominant inheritance0COCH CL E G H16902180OMIM:601369Deafness, autosomal dominant 9.46
HP:0000006HP:0000006Autosomal dominant inheritance0COG4 CL E G H2583918620OMIM:618150Saul-Wilson syndrome.67
HP:0000006HP:0000006Autosomal dominant inheritance0COL10A1 CL E G H13002185OMIM:156500Metaphyseal chondrodysplasia, Schmid type.79
HP:0000006HP:0000006Autosomal dominant inheritance0COL11A1 CL E G H13012186OMIM:618533DEAFNESS, AUTOSOMAL DOMINANT 37; DFNA37215
HP:0000006HP:0000006Autosomal dominant inheritance0COL11A1 CL E G H13012186OMIM:154780Marshall syndrome.215
HP:0000006HP:0000006Autosomal dominant inheritance0COL11A1 CL E G H13012186OMIM:604841Stickler syndrome, type II215
HP:0000006HP:0000006Autosomal dominant inheritance0COL11A2 CL E G H13022187OMIM:601868Deafness, autosomal dominant nonsyndromic sensorineural 13.222
HP:0000006HP:0000006Autosomal dominant inheritance0COL11A2 CL E G H13022187OMIM:614524Fibrochondrogenesis 2.222
HP:0000006HP:0000006Autosomal dominant inheritance0COL11A2 CL E G H13022187OMIM:184840Stickler syndrome, type III.222
HP:0000006HP:0000006Autosomal dominant inheritance0COL12A1 CL E G H13032188OMIM:616471Bethlem myopathy 265
HP:0000006HP:0000006Autosomal dominant inheritance0COL12A1 CL E G H13032188OMIM:616470ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD265
HP:0000006HP:0000006Autosomal dominant inheritance0COL17A1 CL E G H13082194OMIM:122400Epithelial recurrent erosion dystrophy.129
HP:0000006HP:0000006Autosomal dominant inheritance0COL18A1 CL E G H807812195OMIM:618880GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC177
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A1 CL E G H12772197OMIM:114000Caffey disease.373
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A1 CL E G H12772197OMIM:619115COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1373
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A1 CL E G H12772197OMIM:130060Ehlers-Danlos syndrome, arthrochalasia type, 1.373
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A1 CL E G H12772197OMIM:166200Osteogenesis imperfecta, type I.373
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A1 CL E G H12772197OMIM:166210Osteogenesis imperfecta, type IIA.373
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A1 CL E G H12772197OMIM:259420Osteogenesis imperfecta, type III.373
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A1 CL E G H12772197OMIM:166220Osteogenesis imperfecta, type IV.373
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A1 CL E G H12772197OMIM:166710OSTEOPOROSIS.373
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A2 CL E G H12782198OMIM:619120COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2243
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A2 CL E G H12782198OMIM:617821Ehlers-Danlos syndrome, arthrochalasia type, 2.243
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A2 CL E G H12782198OMIM:166210Osteogenesis imperfecta, type IIA.243
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A2 CL E G H12782198OMIM:259420Osteogenesis imperfecta, type III.243
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A2 CL E G H12782198OMIM:166220Osteogenesis imperfecta, type IV.243
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A2 CL E G H12782198OMIM:166710OSTEOPOROSIS.243
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H12802200OMIM:200610Achondrogenesis, type II.284
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H12802200OMIM:608805Avascular necrosis of femoral head, primary, 1.284
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H12802200OMIM:609162Czech dysplasia, Metatarsal type.284
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H12802200OMIM:132450Epiphyseal dysplasia, multiple, with myopia and conductive deafness.284
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H12802200OMIM:156550Kniest dysplasia.284
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H12802200OMIM:150600Legg-Calve-Perthes disease.284
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H12802200OMIM:604864Osteoarthritis with mild chondrodysplasia.284
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type.284
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H12802200OMIM:184250Spondyloepimetaphyseal dysplasia, Strudwick type.284
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H12802200OMIM:183900Spondyloepiphyseal dysplasia congenita.284
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H12802200OMIM:616583Spondyloepiphyseal dysplasia, Stanescu type.284
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H12802200OMIM:184255Spondylometaphyseal dysplasia, corner Fracture type.284
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia.284
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H12802200OMIM:108300Stickler syndrome, type I284
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H12802200OMIM:609508STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR284
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H12802200OMIM:619248VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA; VPED284
HP:0000006HP:0000006Autosomal dominant inheritance0COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A1 CL E G H12822202OMIM:611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps.193
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies.193
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A1 CL E G H12822202OMIM:618564MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT; PADMAL193
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A1 CL E G H12822202OMIM:180000Retinal arteries, tortuosity of.193
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A2 CL E G H12842203OMIM:614483PORENCEPHALY 2; POREN2147
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A3 CL E G H12852204OMIM:104200Alport syndrome, autosomal dominant.161
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A3 CL E G H12852204OMIM:141200Hematuria, benign familial.161
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A4 CL E G H12862206OMIM:141200Hematuria, benign familial.174
HP:0000006HP:0000006Autosomal dominant inheritance0COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0000006HP:0000006Autosomal dominant inheritance0COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0000006HP:0000006Autosomal dominant inheritance0COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2325
HP:0000006HP:0000006Autosomal dominant inheritance0COL6A1 CL E G H12912211OMIM:158810Bethlem myopathy 1.442
HP:0000006HP:0000006Autosomal dominant inheritance0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0000006HP:0000006Autosomal dominant inheritance0COL6A2 CL E G H12922212OMIM:158810Bethlem myopathy 1.478
HP:0000006HP:0000006Autosomal dominant inheritance0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0000006HP:0000006Autosomal dominant inheritance0COL6A3 CL E G H12932213OMIM:158810Bethlem myopathy 1.702
HP:0000006HP:0000006Autosomal dominant inheritance0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0000006HP:0000006Autosomal dominant inheritance0COL7A1 CL E G H12942214OMIM:131750Epidermolysis bullosa dystrophica, autosomal dominant.263
HP:0000006HP:0000006Autosomal dominant inheritance0COL7A1 CL E G H12942214OMIM:131850Epidermolysis bullosa dystrophica, pretibial.263
HP:0000006HP:0000006Autosomal dominant inheritance0COL7A1 CL E G H12942214OMIM:604129Epidermolysis bullosa pruriginosa.263
HP:0000006HP:0000006Autosomal dominant inheritance0COL7A1 CL E G H12942214OMIM:132000Epidermolysis bullosa with congenital localized absence of skin anddeformity of nails.263
HP:0000006HP:0000006Autosomal dominant inheritance0COL7A1 CL E G H12942214OMIM:607523NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8263
HP:0000006HP:0000006Autosomal dominant inheritance0COL7A1 CL E G H12942214OMIM:131705Transient bullous dermolysis of the newborn.263
HP:0000006HP:0000006Autosomal dominant inheritance0COL8A2 CL E G H12962216OMIM:136800Corneal dystrophy, fuchs endothelial, 1.3
HP:0000006HP:0000006Autosomal dominant inheritance0COL8A2 CL E G H12962216OMIM:609140Corneal dystrophy, posterior polymorphous, 2.3
HP:0000006HP:0000006Autosomal dominant inheritance0COL9A1 CL E G H12972217OMIM:614135Epiphyseal dysplasia, multiple, 6110
HP:0000006HP:0000006Autosomal dominant inheritance0COL9A2 CL E G H12982218OMIM:600204Epiphyseal dysplasia, multiple, 2110
HP:0000006HP:0000006Autosomal dominant inheritance0COL9A3 CL E G H12992219OMIM:600969Epiphyseal dysplasia, multiple, 3, with or without myopathy137
HP:0000006HP:0000006Autosomal dominant inheritance0COMP CL E G H13112227OMIM:619161CARPAL TUNNEL SYNDROME 2; CTS289
HP:0000006HP:0000006Autosomal dominant inheritance0COMP CL E G H13112227OMIM:132400Epiphyseal dysplasia, multiple, 1.89
HP:0000006HP:0000006Autosomal dominant inheritance0COMP CL E G H13112227OMIM:177170Pseudoachondroplasia.89
HP:0000006HP:0000006Autosomal dominant inheritance0COMT CL E G H13122228OMIM:167870Panic disorder 1.6
HP:0000006HP:0000006Autosomal dominant inheritance0COMT CL E G H13122228OMIM:181500SCHIZOPHRENIA.6
HP:0000006HP:0000006Autosomal dominant inheritance0COPA CL E G H13142230OMIM:616414AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK5
HP:0000006HP:0000006Autosomal dominant inheritance0COPB2 CL E G H92762232OMIM:619884
HP:0000006HP:0000006Autosomal dominant inheritance0COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to.54
HP:0000006HP:0000006Autosomal dominant inheritance0CORIN CL E G H1069919012OMIM:614595Preeclampsia/eclampsia 5.5
HP:0000006HP:0000006Autosomal dominant inheritance0CPA6 CL E G H5709417245OMIM:614417Epilepsy, familial temporal lobe, 5.49
HP:0000006HP:0000006Autosomal dominant inheritance0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome.1
HP:0000006HP:0000006Autosomal dominant inheritance0CPOX CL E G H13712321OMIM:121300Coproporphyria72
HP:0000006HP:0000006Autosomal dominant inheritance0CPSF1 CL E G H298942324OMIM:618827MYOPIA 27, AUTOSOMAL DOMINANT; MYP27
HP:0000006HP:0000006Autosomal dominant inheritance0CPT1C CL E G H12612918540OMIM:616282Spastic paraplegia 73, autosomal dominant.1
HP:0000006HP:0000006Autosomal dominant inheritance0CPT2 CL E G H13762330OMIM:255110Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced.101
HP:0000006HP:0000006Autosomal dominant inheritance0CPT2 CL E G H13762330OMIM:614212Encephalopathy, acute, infection-induced, susceptibility to, 4.101
HP:0000006HP:0000006Autosomal dominant inheritance0CR2 CL E G H13802336OMIM:240500Immunodeficiency, common variable, 210
HP:0000006HP:0000006Autosomal dominant inheritance0CRB1 CL E G H234182343OMIM:172870Pigmented paravenous chorioretinal atrophy.156
HP:0000006HP:0000006Autosomal dominant inheritance0CREB3L3 CL E G H8469918855OMIM:619324HYPERTRIGLYCERIDEMIA 2; HYTG2
HP:0000006HP:0000006Autosomal dominant inheritance0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0000006HP:0000006Autosomal dominant inheritance0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000006HP:0000006Autosomal dominant inheritance0CRELD1 CL E G H7898714630OMIM:606217Atrioventricular septal defect, susceptibility to, 2.19
HP:0000006HP:0000006Autosomal dominant inheritance0CRX CL E G H14062383OMIM:120970Cone-Rod dystrophy 2158
HP:0000006HP:0000006Autosomal dominant inheritance0CRX CL E G H14062383OMIM:268000Retinitis pigmentosa.158
HP:0000006HP:0000006Autosomal dominant inheritance0CRY1 CL E G H14072384OMIM:614163Delayed sleep phase disorder, susceptibility to.1
HP:0000006HP:0000006Autosomal dominant inheritance0CRYAA CL E G H14092388OMIM:604219Cataract 9, multiple types.33
HP:0000006HP:0000006Autosomal dominant inheritance0CRYAB CL E G H14102389OMIM:615184Cardiomyopathy, dilated, 1ii.46
HP:0000006HP:0000006Autosomal dominant inheritance0CRYAB CL E G H14102389OMIM:613763Cataract, posterior polar, 2.46
HP:0000006HP:0000006Autosomal dominant inheritance0CRYAB CL E G H14102389OMIM:608810Myopathy, myofibrillar, 2, mfm2.46
HP:0000006HP:0000006Autosomal dominant inheritance0CRYBA1 CL E G H14112394OMIM:600881Cataract, congenital zonular, with sutural opacities.9
HP:0000006HP:0000006Autosomal dominant inheritance0CRYBA2 CL E G H14122395OMIM:115900Cataract 42.
HP:0000006HP:0000006Autosomal dominant inheritance0CRYBA4 CL E G H14132396OMIM:610425CATARACT 23, MULTIPLE TYPES; CTRCT2310
HP:0000006HP:0000006Autosomal dominant inheritance0CRYBB1 CL E G H14142397OMIM:611544Cataract 17, multiple types.18
HP:0000006HP:0000006Autosomal dominant inheritance0CRYBB2 CL E G H14152398OMIM:601547Cataract 3, multiple types13
HP:0000006HP:0000006Autosomal dominant inheritance0CRYBB3 CL E G H14172400OMIM:609741Cataract 22, multiple types.22
HP:0000006HP:0000006Autosomal dominant inheritance0CRYGB CL E G H14192409OMIM:615188Cataract, multiple types.2
HP:0000006HP:0000006Autosomal dominant inheritance0CRYGC CL E G H14202410OMIM:604307Cataract 2, multiple types.11
HP:0000006HP:0000006Autosomal dominant inheritance0CRYGD CL E G H14212411OMIM:115700Cataract, crystalline aculeiform.29
HP:0000006HP:0000006Autosomal dominant inheritance0CRYGS CL E G H14272417OMIM:116100Cataract, membranous.2
HP:0000006HP:0000006Autosomal dominant inheritance0CRYM CL E G H14282418OMIM:616357DEAFNESS, AUTOSOMAL DOMINANT 40; DFNA4015
HP:0000006HP:0000006Autosomal dominant inheritance0CSF1R CL E G H14362433OMIM:221820Leukoencephalopathy, diffuse hereditary, with spheroids.149
HP:0000006HP:0000006Autosomal dominant inheritance0CSF3R CL E G H14412439OMIM:162830Neutrophilia, hereditary.34
HP:0000006HP:0000006Autosomal dominant inheritance0CSNK1D CL E G H14532452OMIM:615224Advanced sleep phase syndrome, familial, 2.2
HP:0000006HP:0000006Autosomal dominant inheritance0CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome.12
HP:0000006HP:0000006Autosomal dominant inheritance0CSNK2B CL E G H14602460OMIM:618732POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS2
HP:0000006HP:0000006Autosomal dominant inheritance0CSRP3 CL E G H80482472OMIM:607482CARDIOMYOPATHY, DILATED, 1M; CMD1M104
HP:0000006HP:0000006Autosomal dominant inheritance0CSRP3 CL E G H80482472OMIM:612124Cardiomyopathy, familial hypertrophic, 12.104
HP:0000006HP:0000006Autosomal dominant inheritance0CST3 CL E G H14712475OMIM:105150Amyloidosis VI.3
HP:0000006HP:0000006Autosomal dominant inheritance0CTBP1 CL E G H14872494OMIM:617915Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome.2
HP:0000006HP:0000006Autosomal dominant inheritance0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome.2
HP:0000006HP:0000006Autosomal dominant inheritance0CTCF CL E G H1066413723OMIM:615502Mental retardation, autosomal dominant 2120
HP:0000006HP:0000006Autosomal dominant inheritance0CTLA4 CL E G H14932505OMIM:616100AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS510
HP:0000006HP:0000006Autosomal dominant inheritance0CTLA4 CL E G H14932505OMIM:140300Hashimoto thyroiditis.10
HP:0000006HP:0000006Autosomal dominant inheritance0CTLA4 CL E G H14932505OMIM:152700Systemic lupus erythematosus.10
HP:0000006HP:0000006Autosomal dominant inheritance0CTNNA1 CL E G H14952509OMIM:608970Macular dystrophy, patterned, 2.141
HP:0000006HP:0000006Autosomal dominant inheritance0CTNNA3 CL E G H291192511OMIM:615616Arrhythmogenic right ventricular dysplasia, familial, 13.98
HP:0000006HP:0000006Autosomal dominant inheritance0CTNNB1 CL E G H14992514OMIM:114500Colorectal cancer.88
HP:0000006HP:0000006Autosomal dominant inheritance0CTNNB1 CL E G H14992514OMIM:617572Exudative vitreoretinopathy 7.88
HP:0000006HP:0000006Autosomal dominant inheritance0CTNNB1 CL E G H14992514OMIM:155255MEDULLOBLASTOMA.88
HP:0000006HP:0000006Autosomal dominant inheritance0CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects.88
HP:0000006HP:0000006Autosomal dominant inheritance0CTNNB1 CL E G H14992514OMIM:167000Ovarian cancer.88
HP:0000006HP:0000006Autosomal dominant inheritance0CTNND1 CL E G H15002515OMIM:617681Blepharocheilodontic syndrome 2.
HP:0000006HP:0000006Autosomal dominant inheritance0CTRC CL E G H113302523OMIM:167800Pancreatitis, hereditary.39
HP:0000006HP:0000006Autosomal dominant inheritance0CTSB CL E G H15082527OMIM:148370Keratolytic winter erythema.1
HP:0000006HP:0000006Autosomal dominant inheritance0CUL3 CL E G H84522553OMIM:619239NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS92
HP:0000006HP:0000006Autosomal dominant inheritance0CUL3 CL E G H84522553OMIM:614496Pseudohypoaldosteronism, type IIE.92
HP:0000006HP:0000006Autosomal dominant inheritance0CUX1 CL E G H15232557OMIM:618330Global developmental delay with or without impaired intellectual development.1
HP:0000006HP:0000006Autosomal dominant inheritance0CUX2 CL E G H2331619347OMIM:618141Epileptic encephalopathy, early infantile, 67.
HP:0000006HP:0000006Autosomal dominant inheritance0CXCR4 CL E G H78522561OMIM:193670Whim syndrome.9
HP:0000006HP:0000006Autosomal dominant inheritance0CYCS CL E G H5420519986OMIM:612004Thrombocytopenia 4.82
HP:0000006HP:0000006Autosomal dominant inheritance0CYFIP2 CL E G H2699913760OMIM:618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE651
HP:0000006HP:0000006Autosomal dominant inheritance0CYLD CL E G H15402584OMIM:605041Brooke-Spiegler syndrome.126
HP:0000006HP:0000006Autosomal dominant inheritance0CYLD CL E G H15402584OMIM:132700Cylindromatosis, familial.126
HP:0000006HP:0000006Autosomal dominant inheritance0CYLD CL E G H15402584OMIM:619132FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8126
HP:0000006HP:0000006Autosomal dominant inheritance0CYLD CL E G H15402584OMIM:601606Trichoepithelioma, multiple familial, 1.126
HP:0000006HP:0000006Autosomal dominant inheritance0CYP11B1 CL E G H15842591OMIM:103900Glucocorticoid-Remediable aldosteronism.112
HP:0000006HP:0000006Autosomal dominant inheritance0CYP19A1 CL E G H15882594OMIM:139300Aromatase excess syndrome.60
HP:0000006HP:0000006Autosomal dominant inheritance0CYP2A6 CL E G H15482610OMIM:122700Coumarin resistance.6
HP:0000006HP:0000006Autosomal dominant inheritance0CYP2A6 CL E G H15482610OMIM:211980Lung cancer, susceptibility to.6
HP:0000006HP:0000006Autosomal dominant inheritance0CYP2C9 CL E G H15592623OMIM:122700Coumarin resistance.10
HP:0000006HP:0000006Autosomal dominant inheritance0CYP3A4 CL E G H15762637OMIM:619073VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR32
HP:0000006HP:0000006Autosomal dominant inheritance0DAB1 CL E G H16002661OMIM:615945Spinocerebellar ataxia 37.4
HP:0000006HP:0000006Autosomal dominant inheritance0DACT1 CL E G H5133917748OMIM:617466Townes-Brocks syndrome 2.2
HP:0000006HP:0000006Autosomal dominant inheritance0DAOA CL E G H26701221191OMIM:181500SCHIZOPHRENIA.
HP:0000006HP:0000006Autosomal dominant inheritance0DCAF8 CL E G H5071724891OMIM:610100Giant axonal neuropathy, autosomal dominant.2
HP:0000006HP:0000006Autosomal dominant inheritance0DCC CL E G H16302701OMIM:114500Colorectal cancer.36
HP:0000006HP:0000006Autosomal dominant inheritance0DCC CL E G H16302701OMIM:157600Mirror movements 1.36
HP:0000006HP:0000006Autosomal dominant inheritance0DCHS1 CL E G H864213681OMIM:607829Mitral valve prolapse, myxomatous 2.27
HP:0000006HP:0000006Autosomal dominant inheritance0DCN CL E G H16342705OMIM:610048Corneal dystrophy, congenital stromal31
HP:0000006HP:0000006Autosomal dominant inheritance0DCTN1 CL E G H16392711OMIM:105400Amyotrophic lateral sclerosis 186
HP:0000006HP:0000006Autosomal dominant inheritance0DCTN1 CL E G H16392711OMIM:607641Neuronopathy, distal hereditary motor, type VIIB.86
HP:0000006HP:0000006Autosomal dominant inheritance0DCTN1 CL E G H16392711OMIM:168605Perry syndrome86
HP:0000006HP:0000006Autosomal dominant inheritance0DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000006HP:0000006Autosomal dominant inheritance0DDR2 CL E G H49212731OMIM:618175WARBURG-CINOTTI SYNDROME; WRCN45
HP:0000006HP:0000006Autosomal dominant inheritance0DDX41 CL E G H5142818674OMIM:616871Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to23
HP:0000006HP:0000006Autosomal dominant inheritance0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000006HP:0000006Autosomal dominant inheritance0DEAF1 CL E G H1052214677OMIM:615828Mental retardation, autosomal dominant 24.33
HP:0000006HP:0000006Autosomal dominant inheritance0DEPDC5 CL E G H968118423OMIM:604364Epilepsy, familial focal, with variable foci.172
HP:0000006HP:0000006Autosomal dominant inheritance0DES CL E G H16742770OMIM:604765CARDIOMYOPATHY, DILATED, 1I; CMD1I263
HP:0000006HP:0000006Autosomal dominant inheritance0DES CL E G H16742770OMIM:601419Myopathy, myofibrillar, 1263
HP:0000006HP:0000006Autosomal dominant inheritance0DES CL E G H16742770OMIM:181400Scapuloperoneal syndrome, neurogenic, Kaeser type.263
HP:0000006HP:0000006Autosomal dominant inheritance0DGCR2 CL E G H99932845OMIM:192430Velocardiofacial syndrome.
HP:0000006HP:0000006Autosomal dominant inheritance0DGCR6 CL E G H82142846OMIM:192430Velocardiofacial syndrome.
HP:0000006HP:0000006Autosomal dominant inheritance0DGCR8 CL E G H544872847OMIM:192430Velocardiofacial syndrome.
HP:0000006HP:0000006Autosomal dominant inheritance0DHDDS CL E G H7994720603OMIM:617836Developmental delay and seizures with or without movement abnormalities47
HP:0000006HP:0000006Autosomal dominant inheritance0DHTKD1 CL E G H5552623537OMIM:615025Charcot-Marie-Tooth disease, axonal, type 2Q.12
HP:0000006HP:0000006Autosomal dominant inheritance0DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000006HP:0000006Autosomal dominant inheritance0DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language.4
HP:0000006HP:0000006Autosomal dominant inheritance0DHX37 CL E G H5764717210OMIM:27325046, XY sex reversal 112
HP:0000006HP:0000006Autosomal dominant inheritance0DIABLO CL E G H5661621528OMIM:614152Deafness, autosomal dominant 64.11
HP:0000006HP:0000006Autosomal dominant inheritance0DIAPH1 CL E G H17292876OMIM:124900Deafness, autosomal dominant 1.118
HP:0000006HP:0000006Autosomal dominant inheritance0DIAPH3 CL E G H8162415480OMIM:609129Auditory neuropathy, autosomal dominant, 1.8
HP:0000006HP:0000006Autosomal dominant inheritance0DICER1 CL E G H2340517098OMIM:138800Goiter, multinodular 1.670
HP:0000006HP:0000006Autosomal dominant inheritance0DICER1 CL E G H2340517098OMIM:601200PLEUROPULMONARY BLASTOMA; PPB670
HP:0000006HP:0000006Autosomal dominant inheritance0DIO1 CL E G H17332883OMIM:619855
HP:0000006HP:0000006Autosomal dominant inheritance0DIP2B CL E G H5760929284OMIM:136630Mental retardation, Fra12a type.4
HP:0000006HP:0000006Autosomal dominant inheritance0DISC2 CL E G H271842889OMIM:181500SCHIZOPHRENIA.
HP:0000006HP:0000006Autosomal dominant inheritance0DLC1 CL E G H103952897OMIM:114500Colorectal cancer.11
HP:0000006HP:0000006Autosomal dominant inheritance0DLG4 CL E G H17422903OMIM:618793INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD622
HP:0000006HP:0000006Autosomal dominant inheritance0DLL1 CL E G H285142908OMIM:618709NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS3
HP:0000006HP:0000006Autosomal dominant inheritance0DLL4 CL E G H545672910OMIM:616589Adams-Oliver syndrome 6.9
HP:0000006HP:0000006Autosomal dominant inheritance0DLST CL E G H17432911OMIM:618475Paragangliomas 7.
HP:0000006HP:0000006Autosomal dominant inheritance0DLX3 CL E G H17472916OMIM:104510AMELOGENESIS IMPERFECTA, TYPE IV; AI448
HP:0000006HP:0000006Autosomal dominant inheritance0DLX3 CL E G H17472916OMIM:190320Trichodentoosseous syndrome.48
HP:0000006HP:0000006Autosomal dominant inheritance0DLX4 CL E G H17482917OMIM:616788Orofacial cleft 151
HP:0000006HP:0000006Autosomal dominant inheritance0DLX5 CL E G H17492918OMIM:183600Split-Hand/foot malformation 13
HP:0000006HP:0000006Autosomal dominant inheritance0DMPK CL E G H17602933OMIM:160900Myotonic dystrophy 1.152
HP:0000006HP:0000006Autosomal dominant inheritance0DMXL2 CL E G H233122938OMIM:617605DEAFNESS, AUTOSOMAL DOMINANT 71; DFNA713
HP:0000006HP:0000006Autosomal dominant inheritance0DNA2 CL E G H17632939OMIM:615156Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6.41
HP:0000006HP:0000006Autosomal dominant inheritance0DNAAF4 CL E G H16158221493OMIM:127700Dyslexia, susceptibility to, 1.27
HP:0000006HP:0000006Autosomal dominant inheritance0DNAJB11 CL E G H5172614889OMIM:618061Polycystic kidney disease 6 with or without polycystic liver disease.
HP:0000006HP:0000006Autosomal dominant inheritance0DNAJB6 CL E G H1004914888OMIM:603511Muscular dystrophy, limb-girdle, type 1E.103
HP:0000006HP:0000006Autosomal dominant inheritance0DNAJC5 CL E G H8033116235OMIM:162350Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant.155
HP:0000006HP:0000006Autosomal dominant inheritance0DNASE1 CL E G H17732956OMIM:152700Systemic lupus erythematosus.3
HP:0000006HP:0000006Autosomal dominant inheritance0DNM1 CL E G H17592972OMIM:616346Epileptic encephalopathy, early infantile, 31.72
HP:0000006HP:0000006Autosomal dominant inheritance0DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1.94
HP:0000006HP:0000006Autosomal dominant inheritance0DNM1L CL E G H100592973OMIM:610708Optic atrophy 5.94
HP:0000006HP:0000006Autosomal dominant inheritance0DNM2 CL E G H17852974OMIM:606482Charcot-Marie-Tooth disease, dominant intermediate B.167
HP:0000006HP:0000006Autosomal dominant inheritance0DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0000006HP:0000006Autosomal dominant inheritance0DNMT1 CL E G H17862976OMIM:604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant.145
HP:0000006HP:0000006Autosomal dominant inheritance0DNMT1 CL E G H17862976OMIM:614116Neuropathy, hereditary sensory, type IE.145
HP:0000006HP:0000006Autosomal dominant inheritance0DNMT3A CL E G H17882978OMIM:618724HEYN-SPROUL-JACKSON SYNDROME; HESJAS44
HP:0000006HP:0000006Autosomal dominant inheritance0DNMT3A CL E G H17882978OMIM:601626Leukemia, acute myeloid.44
HP:0000006HP:0000006Autosomal dominant inheritance0DNMT3A CL E G H17882978OMIM:615879Tatton-Brown-Rahman syndrome.44
HP:0000006HP:0000006Autosomal dominant inheritance0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7.
HP:0000006HP:0000006Autosomal dominant inheritance0DPH5 CL E G H5161124270OMIM:620070
HP:0000006HP:0000006Autosomal dominant inheritance0DPP6 CL E G H18043010OMIM:616311MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD3318
HP:0000006HP:0000006Autosomal dominant inheritance0DPP6 CL E G H18043010OMIM:612956VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2; VF218
HP:0000006HP:0000006Autosomal dominant inheritance0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000006HP:0000006Autosomal dominant inheritance0DRD3 CL E G H18143024OMIM:181500SCHIZOPHRENIA.21
HP:0000006HP:0000006Autosomal dominant inheritance0DRD3 CL E G H18143024OMIM:190300Tremor, hereditary essential, 1.21
HP:0000006HP:0000006Autosomal dominant inheritance0DRD4 CL E G H18153025OMIM:143465Attention deficit-hyperactivity disorder.4
HP:0000006HP:0000006Autosomal dominant inheritance0DRD5 CL E G H18163026OMIM:143465Attention deficit-hyperactivity disorder.3
HP:0000006HP:0000006Autosomal dominant inheritance0DRD5 CL E G H18163026OMIM:606798Blepharospasm, benign essential, susceptibility to.3
HP:0000006HP:0000006Autosomal dominant inheritance0DSC2 CL E G H18243036OMIM:610476Arrhythmogenic right ventricular dysplasia, familial, 11.268
HP:0000006HP:0000006Autosomal dominant inheritance0DSG1 CL E G H18283048OMIM:148700Keratosis palmoplantaris striata I16
HP:0000006HP:0000006Autosomal dominant inheritance0DSG2 CL E G H18293049OMIM:610193Arrhythmogenic right ventricular dysplasia, familial, 10.358
HP:0000006HP:0000006Autosomal dominant inheritance0DSP CL E G H18323052OMIM:607450Arrhythmogenic right ventricular dysplasia, familial, 8.747
HP:0000006HP:0000006Autosomal dominant inheritance0DSP CL E G H18323052OMIM:615821Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis.747
HP:0000006HP:0000006Autosomal dominant inheritance0DSP CL E G H18323052OMIM:612908Keratosis palmoplantaris striata II.747
HP:0000006HP:0000006Autosomal dominant inheritance0DSPP CL E G H18343054OMIM:605594Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1.38
HP:0000006HP:0000006Autosomal dominant inheritance0DSPP CL E G H18343054OMIM:125420Dentin dysplasia, type II.38
HP:0000006HP:0000006Autosomal dominant inheritance0DSPP CL E G H18343054OMIM:125490Dentinogenesis imperfecta 1.38
HP:0000006HP:0000006Autosomal dominant inheritance0DSPP CL E G H18343054OMIM:125500Dentinogenesis imperfecta, shields type III.38
HP:0000006HP:0000006Autosomal dominant inheritance0DSTYK CL E G H2577829043OMIM:610805Congenital anomalies of kidney and urinary tract, susceptibility to.13
HP:0000006HP:0000006Autosomal dominant inheritance0DTNA CL E G H18373057OMIM:604169Left ventricular noncompaction 1163
HP:0000006HP:0000006Autosomal dominant inheritance0DUSP6 CL E G H18483072OMIM:615269Hypogonadotropic hypogonadism 19 with or without anosmia.4
HP:0000006HP:0000006Autosomal dominant inheritance0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 1.14
HP:0000006HP:0000006Autosomal dominant inheritance0DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 214
HP:0000006HP:0000006Autosomal dominant inheritance0DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0000006HP:0000006Autosomal dominant inheritance0DYNC1H1 CL E G H17782961OMIM:614228Charcot-marie-tooth disease, axonal, type 2O.427
HP:0000006HP:0000006Autosomal dominant inheritance0DYNC1H1 CL E G H17782961OMIM:614563Mental retardation, autosomal dominant 13.427
HP:0000006HP:0000006Autosomal dominant inheritance0DYNC1H1 CL E G H17782961OMIM:158600Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant.427
HP:0000006HP:0000006Autosomal dominant inheritance0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0000006HP:0000006Autosomal dominant inheritance0DYRK1B CL E G H91493092OMIM:615812Abdominal obesity-metabolic syndrome 3.7
HP:0000006HP:0000006Autosomal dominant inheritance0DZIP1 CL E G H2287320908OMIM:610840MITRAL VALVE PROLAPSE 3; MVP3
HP:0000006HP:0000006Autosomal dominant inheritance0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0000006HP:0000006Autosomal dominant inheritance0ECE1 CL E G H18893146OMIM:613870Hirschsprung disease, cardiac defects, and autonomic dysfunction.13
HP:0000006HP:0000006Autosomal dominant inheritance0EDAR CL E G H109132895OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant.86
HP:0000006HP:0000006Autosomal dominant inheritance0EDARADD CL E G H12817814341OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant.56
HP:0000006HP:0000006Autosomal dominant inheritance0EDARADD CL E G H12817814341OMIM:614940Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant.56
HP:0000006HP:0000006Autosomal dominant inheritance0EDN1 CL E G H19063176OMIM:612798Question mark ears, isolated.6
HP:0000006HP:0000006Autosomal dominant inheritance0EDN3 CL E G H19083178OMIM:613712Hirschsprung disease, susceptibility to, 4.67
HP:0000006HP:0000006Autosomal dominant inheritance0EDN3 CL E G H19083178OMIM:613265Waardenburg syndrome, type 4B.67
HP:0000006HP:0000006Autosomal dominant inheritance0EDNRA CL E G H19093179OMIM:616367Mandibulofacial dysostosis with alopecia.3
HP:0000006HP:0000006Autosomal dominant inheritance0EDNRA CL E G H19093179OMIM:157300Migraine with or without aura, susceptibility to, 1.3
HP:0000006HP:0000006Autosomal dominant inheritance0EDNRB CL E G H19103180OMIM:600155Hirschsprung disease, susceptibility to, 2.55
HP:0000006HP:0000006Autosomal dominant inheritance0EDNRB CL E G H19103180OMIM:277580Waardenburg-Shah syndrome.55
HP:0000006HP:0000006Autosomal dominant inheritance0EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome4
HP:0000006HP:0000006Autosomal dominant inheritance0EEF1A2 CL E G H19173192OMIM:616409Epileptic encephalopathy, early infantile, 33.60
HP:0000006HP:0000006Autosomal dominant inheritance0EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 38.60
HP:0000006HP:0000006Autosomal dominant inheritance0EEF2 CL E G H19383214OMIM:609306Spinocerebellar ataxia 26.4
HP:0000006HP:0000006Autosomal dominant inheritance0EFEMP1 CL E G H22023218OMIM:126600Doyne honeycomb retinal dystrophy.54
HP:0000006HP:0000006Autosomal dominant inheritance0EFHC1 CL E G H11432716406OMIM:607631Epilepsy, juvenile absence.153
HP:0000006HP:0000006Autosomal dominant inheritance0EFHC1 CL E G H11432716406OMIM:254770Myoclonic epilepsy, juvenile, susceptibility to, 1.153
HP:0000006HP:0000006Autosomal dominant inheritance0EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type.48
HP:0000006HP:0000006Autosomal dominant inheritance0EGFR CL E G H19563236OMIM:211980Lung cancer, susceptibility to.257
HP:0000006HP:0000006Autosomal dominant inheritance0EGLN1 CL E G H545831232OMIM:609820Erythrocytosis, familial, 3.128
HP:0000006HP:0000006Autosomal dominant inheritance0EGR2 CL E G H19593239OMIM:607678Charcot-Marie-Tooth disease, demyelinating, type 1D.58
HP:0000006HP:0000006Autosomal dominant inheritance0EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas.58
HP:0000006HP:0000006Autosomal dominant inheritance0EGR2 CL E G H19593239OMIM:605253Neuropathy, congenital hypomyelinating, 1, autosomal recessive.58
HP:0000006HP:0000006Autosomal dominant inheritance0EHHADH CL E G H19623247OMIM:615605Fanconi renotubular syndrome 3.2
HP:0000006HP:0000006Autosomal dominant inheritance0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0000006HP:0000006Autosomal dominant inheritance0EIF2AK1 CL E G H2710224921OMIM:618878LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0000006HP:0000006Autosomal dominant inheritance0EIF2AK2 CL E G H56109437OMIM:619687DYSTONIA 33; DYT33
HP:0000006HP:0000006Autosomal dominant inheritance0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0000006HP:0000006Autosomal dominant inheritance0EIF4G1 CL E G H19813296OMIM:614251Parkinson disease 18.2
HP:0000006HP:0000006Autosomal dominant inheritance0EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0000006HP:0000006Autosomal dominant inheritance0ELANE CL E G H19913309OMIM:162800Cyclic neutropenia.79
HP:0000006HP:0000006Autosomal dominant inheritance0ELANE CL E G H19913309OMIM:202700Neutropenia, severe congenital, 1, autosomal dominant79
HP:0000006HP:0000006Autosomal dominant inheritance0ELMOD3 CL E G H8417326158OMIM:619500DEAFNESS, AUTOSOMAL DOMINANT 81; DFNA811
HP:0000006HP:0000006Autosomal dominant inheritance0ELN CL E G H20063327OMIM:123700Cutis laxa, autosomal dominant 1.172
HP:0000006HP:0000006Autosomal dominant inheritance0ELN CL E G H20063327OMIM:185500Supravalvular aortic stenosis.172
HP:0000006HP:0000006Autosomal dominant inheritance0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0000006HP:0000006Autosomal dominant inheritance0ELOVL1 CL E G H6483414418OMIM:618527Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features.
HP:0000006HP:0000006Autosomal dominant inheritance0ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 34.62
HP:0000006HP:0000006Autosomal dominant inheritance0ELOVL4 CL E G H678514415OMIM:600110STARGARDT DISEASE 3; STGD362
HP:0000006HP:0000006Autosomal dominant inheritance0ELOVL5 CL E G H6048121308OMIM:615957Spinocerebellar ataxia 38.4
HP:0000006HP:0000006Autosomal dominant inheritance0ELP1 CL E G H85185959OMIM:155255MEDULLOBLASTOMA.133
HP:0000006HP:0000006Autosomal dominant inheritance0ELP4 CL E G H266101171OMIM:617141Aniridia 2.4
HP:0000006HP:0000006Autosomal dominant inheritance0EMILIN1 CL E G H1111719880OMIM:6200802
HP:0000006HP:0000006Autosomal dominant inheritance0ENAM CL E G H101173344OMIM:104500Amelogenesis imperfecta, type IB.50
HP:0000006HP:0000006Autosomal dominant inheritance0ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1186
HP:0000006HP:0000006Autosomal dominant inheritance0ENPP1 CL E G H51673356OMIM:615522Cole disease.151
HP:0000006HP:0000006Autosomal dominant inheritance0ENPP1 CL E G H51673356OMIM:125853Diabetes mellitus, noninsulin-dependent.151
HP:0000006HP:0000006Autosomal dominant inheritance0ENPP1 CL E G H51673356OMIM:601665OBESITY.151
HP:0000006HP:0000006Autosomal dominant inheritance0EP300 CL E G H20333373OMIM:114500Colorectal cancer.250
HP:0000006HP:0000006Autosomal dominant inheritance0EP300 CL E G H20333373OMIM:618333MENKE-HENNEKAM SYNDROME 2; MKHK2250
HP:0000006HP:0000006Autosomal dominant inheritance0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000006HP:0000006Autosomal dominant inheritance0EP300 CL E G H20333373OMIM:613684Rubinstein-Taybi syndrome 2.250
HP:0000006HP:0000006Autosomal dominant inheritance0EPAS1 CL E G H20343374OMIM:611783ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4112
HP:0000006HP:0000006Autosomal dominant inheritance0EPB41 CL E G H20353377OMIM:611804Elliptocytosis 16
HP:0000006HP:0000006Autosomal dominant inheritance0EPB41L1 CL E G H20363378OMIM:614257MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD1129
HP:0000006HP:0000006Autosomal dominant inheritance0EPCAM CL E G H407211529OMIM:613244Colorectal cancer, hereditary nonpolyposis, type 8170
HP:0000006HP:0000006Autosomal dominant inheritance0EPHA2 CL E G H19693386OMIM:116600Cataract, posterior polar, 1 ctpa cataract, congenital total, included87
HP:0000006HP:0000006Autosomal dominant inheritance0EPHB4 CL E G H20503395OMIM:618196Capillary malformation-arteriovenous malformation 2.3
HP:0000006HP:0000006Autosomal dominant inheritance0EPHB4 CL E G H20503395OMIM:617300Lymphatic malformation 7.3
HP:0000006HP:0000006Autosomal dominant inheritance0EPHX2 CL E G H20533402OMIM:143890Hypercholesterolemia, familial, 11
HP:0000006HP:0000006Autosomal dominant inheritance0EPO CL E G H20563415OMIM:617907Erythrocytosis, familial, 5.1
HP:0000006HP:0000006Autosomal dominant inheritance0EPS8L3 CL E G H7957421297OMIM:612841Hypotrichosis 5.
HP:0000006HP:0000006Autosomal dominant inheritance0ERBB2 CL E G H20643430OMIM:137800Glioma susceptibility 1.77
HP:0000006HP:0000006Autosomal dominant inheritance0ERBB2 CL E G H20643430OMIM:211980Lung cancer, susceptibility to.77
HP:0000006HP:0000006Autosomal dominant inheritance0ERBB2 CL E G H20643430OMIM:167000Ovarian cancer.77
HP:0000006HP:0000006Autosomal dominant inheritance0ERBB3 CL E G H20653431OMIM:133180Erythroleukemia, familial, susceptibility to.12
HP:0000006HP:0000006Autosomal dominant inheritance0ERBB4 CL E G H20663432OMIM:615515Amyotrophic lateral sclerosis 19.15
HP:0000006HP:0000006Autosomal dominant inheritance0ERCC6 CL E G H20743438OMIM:211980Lung cancer, susceptibility to.199
HP:0000006HP:0000006Autosomal dominant inheritance0ERCC6 CL E G H20743438OMIM:616946PREMATURE OVARIAN FAILURE 11; POF11199
HP:0000006HP:0000006Autosomal dominant inheritance0ERF CL E G H20773444OMIM:617180Chitayat syndrome12
HP:0000006HP:0000006Autosomal dominant inheritance0ERF CL E G H20773444OMIM:600775Craniosynostosis 4.12
HP:0000006HP:0000006Autosomal dominant inheritance0ERMARD CL E G H5578021056OMIM:615544Periventricular nodular heterotopia 6.36
HP:0000006HP:0000006Autosomal dominant inheritance0ESR1 CL E G H20993467OMIM:114480Breast cancer.13
HP:0000006HP:0000006Autosomal dominant inheritance0ESR1 CL E G H20993467OMIM:157300Migraine with or without aura, susceptibility to, 1.13
HP:0000006HP:0000006Autosomal dominant inheritance0ESR2 CL E G H21003468OMIM:618187Ovarian dysgenesis 8.
HP:0000006HP:0000006Autosomal dominant inheritance0ESS2 CL E G H822016817OMIM:192430Velocardiofacial syndrome.
HP:0000006HP:0000006Autosomal dominant inheritance0ETV6 CL E G H21203495OMIM:601626Leukemia, acute myeloid.13
HP:0000006HP:0000006Autosomal dominant inheritance0ETV6 CL E G H21203495OMIM:616216Thrombocytopenia 5.13
HP:0000006HP:0000006Autosomal dominant inheritance0EVC CL E G H21213497OMIM:193530Weyers acrofacial dysostosis.209
HP:0000006HP:0000006Autosomal dominant inheritance0EVC2 CL E G H13288419747OMIM:193530Weyers acrofacial dysostosis.137
HP:0000006HP:0000006Autosomal dominant inheritance0EXT1 CL E G H21313512OMIM:133700Exostoses, multiple, type I.96
HP:0000006HP:0000006Autosomal dominant inheritance0EXT2 CL E G H21323513OMIM:133701Exostoses, multiple, type II.102
HP:0000006HP:0000006Autosomal dominant inheritance0EYA1 CL E G H21383519OMIM:602588Branchiootic syndrome 1.135
HP:0000006HP:0000006Autosomal dominant inheritance0EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1.135
HP:0000006HP:0000006Autosomal dominant inheritance0EYA1 CL E G H21383519OMIM:166780Otofaciocervical syndrome.135
HP:0000006HP:0000006Autosomal dominant inheritance0EYA4 CL E G H20703522OMIM:605362Cardiomyopathy, dilated, 1J111
HP:0000006HP:0000006Autosomal dominant inheritance0EYA4 CL E G H20703522OMIM:601316Deafness, autosomal dominant nonsyndromic sensorineural 10.111
HP:0000006HP:0000006Autosomal dominant inheritance0EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0000006HP:0000006Autosomal dominant inheritance0F11 CL E G H21603529OMIM:612416Factor XI deficiency.132
HP:0000006HP:0000006Autosomal dominant inheritance0F12 CL E G H21613530OMIM:610618ANGIOEDEMA, HEREDITARY, TYPE III; HAE328
HP:0000006HP:0000006Autosomal dominant inheritance0F13A1 CL E G H21623531OMIM:188050Thrombophiliavenous thromboembolism, included.60
HP:0000006HP:0000006Autosomal dominant inheritance0F2 CL E G H21473535OMIM:614390Pregnancy loss, recurrent, susceptibility to, 2.44
HP:0000006HP:0000006Autosomal dominant inheritance0F2 CL E G H21473535OMIM:188050Thrombophiliavenous thromboembolism, included.44
HP:0000006HP:0000006Autosomal dominant inheritance0F5 CL E G H21533542OMIM:614389Pregnancy loss, recurrent, susceptibility to, 1.159
HP:0000006HP:0000006Autosomal dominant inheritance0F5 CL E G H21533542OMIM:188055Thrombophilia due to deficiency of activated protein C cofactor.159
HP:0000006HP:0000006Autosomal dominant inheritance0FAM111A CL E G H6390124725OMIM:602361Gracile bone dysplasia.8
HP:0000006HP:0000006Autosomal dominant inheritance0FAM111A CL E G H6390124725OMIM:127000Kenny-caffey syndrome, type 2.8
HP:0000006HP:0000006Autosomal dominant inheritance0FAM111B CL E G H37439324200OMIM:615704Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis.6
HP:0000006HP:0000006Autosomal dominant inheritance0FAM83H CL E G H28607724797OMIM:130900Amelogenesis imperfecta, type III.22
HP:0000006HP:0000006Autosomal dominant inheritance0FAR1 CL E G H8418826222OMIM:619338CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD7
HP:0000006HP:0000006Autosomal dominant inheritance0FAS CL E G H35511920OMIM:601859Autoimmune lymphoproliferative syndrome.59
HP:0000006HP:0000006Autosomal dominant inheritance0FASLG CL E G H35611936OMIM:601859Autoimmune lymphoproliferative syndrome.37
HP:0000006HP:0000006Autosomal dominant inheritance0FASLG CL E G H35611936OMIM:211980Lung cancer, susceptibility to.37
HP:0000006HP:0000006Autosomal dominant inheritance0FAT2 CL E G H21963596OMIM:617769Spinocerebellar ataxia 45.2
HP:0000006HP:0000006Autosomal dominant inheritance0FBLN1 CL E G H21923600OMIM:608180Synpolydactyly 2.12
HP:0000006HP:0000006Autosomal dominant inheritance0FBLN5 CL E G H105163602OMIM:619764CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H63
HP:0000006HP:0000006Autosomal dominant inheritance0FBLN5 CL E G H105163602OMIM:614434Cutis laxa, autosomal dominant 2.63
HP:0000006HP:0000006Autosomal dominant inheritance0FBLN5 CL E G H105163602OMIM:608895Macular degeneration, age-related, 3.63
HP:0000006HP:0000006Autosomal dominant inheritance0FBN1 CL E G H22003603OMIM:102370Acromicric dysplasia.1361
HP:0000006HP:0000006Autosomal dominant inheritance0FBN1 CL E G H22003603OMIM:129600ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL11361
HP:0000006HP:0000006Autosomal dominant inheritance0FBN1 CL E G H22003603OMIM:614185GELEOPHYSIC DYSPLASIA 2; GPHYSD21361
HP:0000006HP:0000006Autosomal dominant inheritance0FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0000006HP:0000006Autosomal dominant inheritance0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0000006HP:0000006Autosomal dominant inheritance0FBN1 CL E G H22003603OMIM:604308MASS SYNDROME1361
HP:0000006HP:0000006Autosomal dominant inheritance0FBN1 CL E G H22003603OMIM:184900STIFF SKIN SYNDROME; SSKS1361
HP:0000006HP:0000006Autosomal dominant inheritance0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant1361
HP:0000006HP:0000006Autosomal dominant inheritance0FBN2 CL E G H22013604OMIM:121050Contractural arachnodactyly, congenital655
HP:0000006HP:0000006Autosomal dominant inheritance0FBN2 CL E G H22013604OMIM:616118MACULAR DEGENERATION, EARLY-ONSET; EOMD655
HP:0000006HP:0000006Autosomal dominant inheritance0FBP2 CL E G H87893607OMIM:619864
HP:0000006HP:0000006Autosomal dominant inheritance0FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.7
HP:0000006HP:0000006Autosomal dominant inheritance0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000006HP:0000006Autosomal dominant inheritance0FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID.1
HP:0000006HP:0000006Autosomal dominant inheritance0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000006HP:0000006Autosomal dominant inheritance0FBXW7 CL E G H5529416712OMIM:62001222
HP:0000006HP:0000006Autosomal dominant inheritance0FCGR2A CL E G H22123616OMIM:152700Systemic lupus erythematosus.6
HP:0000006HP:0000006Autosomal dominant inheritance0FCGR2B CL E G H22133618OMIM:152700Systemic lupus erythematosus.2
HP:0000006HP:0000006Autosomal dominant inheritance0FDPS CL E G H22243631OMIM:616631Porokeratosis 9, multiple types.4
HP:0000006HP:0000006Autosomal dominant inheritance0FGA CL E G H22433661OMIM:105200Amyloidosis, familial visceral.47
HP:0000006HP:0000006Autosomal dominant inheritance0FGF10 CL E G H22553666OMIM:180920Aplasia of lacrimal and salivary glands.17
HP:0000006HP:0000006Autosomal dominant inheritance0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome.17
HP:0000006HP:0000006Autosomal dominant inheritance0FGF12 CL E G H22573668OMIM:617166Epileptic encephalopathy, early infantile, 47.3
HP:0000006HP:0000006Autosomal dominant inheritance0FGF14 CL E G H22593671OMIM:193003Nystagmus 4, congenital, autosomal dominant.47
HP:0000006HP:0000006Autosomal dominant inheritance0FGF17 CL E G H88223673OMIM:615270Hypogonadotropic hypogonadism 20 with or without anosmia.3
HP:0000006HP:0000006Autosomal dominant inheritance0FGF23 CL E G H80743680OMIM:193100Hypophosphatemic rickets, autosomal dominant.51
HP:0000006HP:0000006Autosomal dominant inheritance0FGF8 CL E G H22533686OMIM:612702Hypogonadotropic hypogonadism 6 with or without anosmia.17
HP:0000006HP:0000006Autosomal dominant inheritance0FGF9 CL E G H22543687OMIM:612961Multiple synostoses syndrome 375
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR1 CL E G H22603688OMIM:615465Hartsfield syndrome.172
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR1 CL E G H22603688OMIM:147950Hypogonadotropic hypogonadism 2 with or without anosmia.172
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR1 CL E G H22603688OMIM:123150Jackson-Weiss syndrome.172
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia.172
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR1 CL E G H22603688OMIM:101600Pfeiffer syndrome.172
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR1 CL E G H22603688OMIM:190440Trigonocephaly 1.172
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR2 CL E G H22633689OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.175
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR2 CL E G H22633689OMIM:101200Apert syndrome.175
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR2 CL E G H22633689OMIM:614592Bent bone dysplasia syndrome.175
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR2 CL E G H22633689OMIM:123500Crouzon syndrome.175
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR2 CL E G H22633689OMIM:123150Jackson-Weiss syndrome.175
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome.175
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR2 CL E G H22633689OMIM:101600Pfeiffer syndrome.175
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA.145
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans.145
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR3 CL E G H22613690OMIM:109800Bladder cancer.145
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR3 CL E G H22613690OMIM:610474Camptodactyly, tall stature, and hearing loss syndrome.145
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR3 CL E G H22613690OMIM:114500Colorectal cancer.145
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR3 CL E G H22613690OMIM:612247Crouzon syndrome with acanthosis nigricans.145
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR3 CL E G H22613690OMIM:146000HYPOCHONDROPLASIA.145
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome.145
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR3 CL E G H22613690OMIM:602849Muenke syndrome145
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I.145
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR3 CL E G H22613690OMIM:187601Thanatophoric dysplasia, type II.145
HP:0000006HP:0000006Autosomal dominant inheritance0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome.
HP:0000006HP:0000006Autosomal dominant inheritance0FH CL E G H22713700OMIM:150800Hereditary leiomyomatosis and renal cell cancer.301
HP:0000006HP:0000006Autosomal dominant inheritance0FHOD3 CL E G H8020626178OMIM:619402CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0000006HP:0000006Autosomal dominant inheritance0FIG4 CL E G H989616873OMIM:612577Amyotrophic lateral sclerosis 11111
HP:0000006HP:0000006Autosomal dominant inheritance0FLCN CL E G H20116327310OMIM:135150Birt-Hogg-Dube syndrome332
HP:0000006HP:0000006Autosomal dominant inheritance0FLCN CL E G H20116327310OMIM:114500Colorectal cancer.332
HP:0000006HP:0000006Autosomal dominant inheritance0FLCN CL E G H20116327310OMIM:173600Pneumothorax, primary spontaneous.332
HP:0000006HP:0000006Autosomal dominant inheritance0FLG CL E G H23123748OMIM:146700ICHTHYOSIS VULGARIS63
HP:0000006HP:0000006Autosomal dominant inheritance0FLI1 CL E G H23133749OMIM:617443Bleeding disorder, platelet-type, 21.8
HP:0000006HP:0000006Autosomal dominant inheritance0FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I233
HP:0000006HP:0000006Autosomal dominant inheritance0FLNB CL E G H23173755OMIM:108721Atelosteogenesis, type III233
HP:0000006HP:0000006Autosomal dominant inheritance0FLNB CL E G H23173755OMIM:112310Boomerang dysplasia.233
HP:0000006HP:0000006Autosomal dominant inheritance0FLNB CL E G H23173755OMIM:150250Larsen syndrome.233
HP:0000006HP:0000006Autosomal dominant inheritance0FLNC CL E G H23183756OMIM:617047Cardiomyopathy, familial hypertrophic, 26.197
HP:0000006HP:0000006Autosomal dominant inheritance0FLNC CL E G H23183756OMIM:609524Filaminopathy, autosomal dominant.197
HP:0000006HP:0000006Autosomal dominant inheritance0FLNC CL E G H23183756OMIM:614065Myopathy, distal, 4.197
HP:0000006HP:0000006Autosomal dominant inheritance0FLRT3 CL E G H237673762OMIM:615271Hypogonadotropic hypogonadism 21 with or without anosmia.4
HP:0000006HP:0000006Autosomal dominant inheritance0FLT3 CL E G H23223765OMIM:601626Leukemia, acute myeloid.61
HP:0000006HP:0000006Autosomal dominant inheritance0FLT4 CL E G H23243767OMIM:618780CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD790
HP:0000006HP:0000006Autosomal dominant inheritance0FLT4 CL E G H23243767OMIM:602089Hemangioma, capillary infantile.90
HP:0000006HP:0000006Autosomal dominant inheritance0FLT4 CL E G H23243767OMIM:153100Lymphatic malformation 190
HP:0000006HP:0000006Autosomal dominant inheritance0FN1 CL E G H23353778OMIM:601894Glomerulopathy with fibronectin deposits 2.9
HP:0000006HP:0000006Autosomal dominant inheritance0FN1 CL E G H23353778OMIM:184255Spondylometaphyseal dysplasia, corner Fracture type.9
HP:0000006HP:0000006Autosomal dominant inheritance0FOXC1 CL E G H22963800OMIM:601631Anterior segment dysgenesis 3.63
HP:0000006HP:0000006Autosomal dominant inheritance0FOXC1 CL E G H22963800OMIM:602482Axenfeld-rieger syndrome, type 3.63
HP:0000006HP:0000006Autosomal dominant inheritance0FOXC2 CL E G H23033801OMIM:153400Lymphedema-Distichiasis syndrome.20
HP:0000006HP:0000006Autosomal dominant inheritance0FOXD3 CL E G H270223804OMIM:607836Autoimmune disease, susceptibility to, 1.1
HP:0000006HP:0000006Autosomal dominant inheritance0FOXE1 CL E G H23043806OMIM:616534Thyroid cancer, nonmedullary, 4.9
HP:0000006HP:0000006Autosomal dominant inheritance0FOXE3 CL E G H23013808OMIM:617349AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO; AAT1123
HP:0000006HP:0000006Autosomal dominant inheritance0FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0000006HP:0000006Autosomal dominant inheritance0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0000006HP:0000006Autosomal dominant inheritance0FOXJ1 CL E G H23023816OMIM:618699CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0000006HP:0000006Autosomal dominant inheritance0FOXL2 CL E G H6681092OMIM:110100Blepharophimosis, epicanthus inversus, and ptosis92
HP:0000006HP:0000006Autosomal dominant inheritance0FOXL2 CL E G H6681092OMIM:608996Premature ovarian failure 392
HP:0000006HP:0000006Autosomal dominant inheritance0FOXN1 CL E G H845612765OMIM:618806T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND54
HP:0000006HP:0000006Autosomal dominant inheritance0FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0000006HP:0000006Autosomal dominant inheritance0FOXP2 CL E G H9398613875OMIM:602081Speech-language disorder-1.143
HP:0000006HP:0000006Autosomal dominant inheritance0FREM1 CL E G H15832623399OMIM:614485Trigonocephaly 2.198
HP:0000006HP:0000006Autosomal dominant inheritance0FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 1.1
HP:0000006HP:0000006Autosomal dominant inheritance0FRMD5 CL E G H8497828214OMIM:620094
HP:0000006HP:0000006Autosomal dominant inheritance0FSCN2 CL E G H257943960OMIM:607921RETINITIS PIGMENTOSA 30; RP3026
HP:0000006HP:0000006Autosomal dominant inheritance0FSHR CL E G H24923969OMIM:608115Ovarian hyperstimulation syndrome.50
HP:0000006HP:0000006Autosomal dominant inheritance0FTH1 CL E G H24953976OMIM:615517Hemochromatosis, type 5.11
HP:0000006HP:0000006Autosomal dominant inheritance0FTL CL E G H25123999OMIM:600886Hyperferritinemia with or without cataract33
HP:0000006HP:0000006Autosomal dominant inheritance0FTL CL E G H25123999OMIM:615604L-ferritin deficiency, dominant and recessive.33
HP:0000006HP:0000006Autosomal dominant inheritance0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 333
HP:0000006HP:0000006Autosomal dominant inheritance0FUS CL E G H25214010OMIM:608030Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia105
HP:0000006HP:0000006Autosomal dominant inheritance0FUS CL E G H25214010OMIM:614782TREMOR, HEREDITARY ESSENTIAL, 4; ETM4105
HP:0000006HP:0000006Autosomal dominant inheritance0FUZ CL E G H8019926219OMIM:182940Neural tube defects, susceptibility to.3
HP:0000006HP:0000006Autosomal dominant inheritance0FXYD2 CL E G H4864026OMIM:154020Hypomagnesemia 2, renal.17
HP:0000006HP:0000006Autosomal dominant inheritance0FZD2 CL E G H25354040OMIM:164745OMODYSPLASIA.
HP:0000006HP:0000006Autosomal dominant inheritance0FZD4 CL E G H83224042OMIM:133780Exudative vitreoretinopathy 1.109
HP:0000006HP:0000006Autosomal dominant inheritance0GABBR2 CL E G H95684507OMIM:617904Epileptic encephalopathy, early infantile, 59.5
HP:0000006HP:0000006Autosomal dominant inheritance0GABBR2 CL E G H95684507OMIM:617903Neurodevelopmental disorder with poor language and loss of hand skills.5
HP:0000006HP:0000006Autosomal dominant inheritance0GABRA1 CL E G H25544075OMIM:615744Epileptic encephalopathy, early infantile, 19.134
HP:0000006HP:0000006Autosomal dominant inheritance0GABRA2 CL E G H25554076OMIM:618557DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE784
HP:0000006HP:0000006Autosomal dominant inheritance0GABRA5 CL E G H25584079OMIM:618559DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0000006HP:0000006Autosomal dominant inheritance0GABRB1 CL E G H25604081OMIM:617153Epileptic encephalopathy, early infantile, 45.3
HP:0000006HP:0000006Autosomal dominant inheritance0GABRB2 CL E G H25614082OMIM:617829Epileptic encephalopathy, infantile or early childhood, 244
HP:0000006HP:0000006Autosomal dominant inheritance0GABRB3 CL E G H25624083OMIM:612269EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5; ECA557
HP:0000006HP:0000006Autosomal dominant inheritance0GABRB3 CL E G H25624083OMIM:617113Epileptic encephalopathy, early infantile, 43.57
HP:0000006HP:0000006Autosomal dominant inheritance0GABRD CL E G H25634084OMIM:613060Epilepsy, idiopathic generalized, 1010
HP:0000006HP:0000006Autosomal dominant inheritance0GABRG2 CL E G H25664087OMIM:618396Epileptic encephalopathy, early infantile, 74.139
HP:0000006HP:0000006Autosomal dominant inheritance0GABRG2 CL E G H25664087OMIM:607681Febrile seizures, familial, 8.139
HP:0000006HP:0000006Autosomal dominant inheritance0GAL CL E G H510834114OMIM:616461Epilepsy, familial temporal lobe, 81
HP:0000006HP:0000006Autosomal dominant inheritance0GANAB CL E G H231934138OMIM:600666Polycystic kidney disease 3.6
HP:0000006HP:0000006Autosomal dominant inheritance0GARS1 CL E G H26174162OMIM:601472Charcot-Marie-Tooth disease, axonal, type 2D.
HP:0000006HP:0000006Autosomal dominant inheritance0GARS1 CL E G H26174162OMIM:600794Neuronopathy, distal hereditary motor, type VA.
HP:0000006HP:0000006Autosomal dominant inheritance0GARS1 CL E G H26174162OMIM:619042SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0000006HP:0000006Autosomal dominant inheritance0GATA2 CL E G H26244171OMIM:614172Immunodeficiency 21.137
HP:0000006HP:0000006Autosomal dominant inheritance0GATA2 CL E G H26244171OMIM:601626Leukemia, acute myeloid.137
HP:0000006HP:0000006Autosomal dominant inheritance0GATA2 CL E G H26244171OMIM:614038Lymphedema, primary, with myelodysplasia.137
HP:0000006HP:0000006Autosomal dominant inheritance0GATA3 CL E G H26254172OMIM:146255Hypoparathyroidism, sensorineural deafness, and renal dysplasia83
HP:0000006HP:0000006Autosomal dominant inheritance0GATA4 CL E G H26264173OMIM:607941Atrial septal defect 2.87
HP:0000006HP:0000006Autosomal dominant inheritance0GATA4 CL E G H26264173OMIM:614430Atrioventricular septal defect 4.87
HP:0000006HP:0000006Autosomal dominant inheritance0GATA4 CL E G H26264173OMIM:615542Testicular anomalies with or without congenital heart disease.87
HP:0000006HP:0000006Autosomal dominant inheritance0GATA4 CL E G H26264173OMIM:187500Tetralogy of Fallot.87
HP:0000006HP:0000006Autosomal dominant inheritance0GATA4 CL E G H26264173OMIM:614429Ventricular septal defect 1.87
HP:0000006HP:0000006Autosomal dominant inheritance0GATA5 CL E G H14062815802OMIM:617912Congenital heart defects, multiple types, 5.10
HP:0000006HP:0000006Autosomal dominant inheritance0GATA6 CL E G H26274174OMIM:614475Atrial septal defect 9.37
HP:0000006HP:0000006Autosomal dominant inheritance0GATA6 CL E G H26274174OMIM:614474Atrioventricular septal defect 5.37
HP:0000006HP:0000006Autosomal dominant inheritance0GATA6 CL E G H26274174OMIM:600001Pancreatic agenesis and congenital heart defects37
HP:0000006HP:0000006Autosomal dominant inheritance0GATA6 CL E G H26274174OMIM:187500Tetralogy of Fallot.37
HP:0000006HP:0000006Autosomal dominant inheritance0GATAD2B CL E G H5745930778OMIM:615074Mental retardation, autosomal dominant 1833
HP:0000006HP:0000006Autosomal dominant inheritance0GATM CL E G H26284175OMIM:134600Fanconi renotubular syndrome 1.86
HP:0000006HP:0000006Autosomal dominant inheritance0GBA1 CL E G H26294177OMIM:127750Dementia, lewy body.
HP:0000006HP:0000006Autosomal dominant inheritance0GBA1 CL E G H26294177OMIM:168600Parkinson disease, late-onset.
HP:0000006HP:0000006Autosomal dominant inheritance0GBF1 CL E G H87294181OMIM:606483Charcot-Marie-Tooth disease, dominant intermediate A.
HP:0000006HP:0000006Autosomal dominant inheritance0GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0000006HP:0000006Autosomal dominant inheritance0GCK CL E G H26454195OMIM:125853Diabetes mellitus, noninsulin-dependent.237
HP:0000006HP:0000006Autosomal dominant inheritance0GCK CL E G H26454195OMIM:602485Hyperinsulinemic hypoglycemia, familial, 3.237
HP:0000006HP:0000006Autosomal dominant inheritance0GCK CL E G H26454195OMIM:125851Maturity-onset diabetes of the young, type II.237
HP:0000006HP:0000006Autosomal dominant inheritance0GCM2 CL E G H92474198OMIM:617343Hyperparathyroidism 4.51
HP:0000006HP:0000006Autosomal dominant inheritance0GDAP1 CL E G H5433215968OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K.108
HP:0000006HP:0000006Autosomal dominant inheritance0GDF1 CL E G H26574214OMIM:613854Congenital heart defects, multiple types, 628
HP:0000006HP:0000006Autosomal dominant inheritance0GDF11 CL E G H102204216OMIM:619122VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000006HP:0000006Autosomal dominant inheritance0GDF2 CL E G H26584217OMIM:615506TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT58
HP:0000006HP:0000006Autosomal dominant inheritance0GDF3 CL E G H95734218OMIM:613702Klippel-Feil syndrome 3, autosomal dominant7
HP:0000006HP:0000006Autosomal dominant inheritance0GDF3 CL E G H95734218OMIM:613704Microphthalmia, isolated 7.7
HP:0000006HP:0000006Autosomal dominant inheritance0GDF3 CL E G H95734218OMIM:613703MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB67
HP:0000006HP:0000006Autosomal dominant inheritance0GDF5 CL E G H82004220OMIM:615072Brachydactyly, type A1, C.52
HP:0000006HP:0000006Autosomal dominant inheritance0GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A252
HP:0000006HP:0000006Autosomal dominant inheritance0GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C.52
HP:0000006HP:0000006Autosomal dominant inheritance0GDF5 CL E G H82004220OMIM:610017Multiple synostoses syndrome 252
HP:0000006HP:0000006Autosomal dominant inheritance0GDF5 CL E G H82004220OMIM:615298SYMPHALANGISM, PROXIMAL, 1B; SYM1B52
HP:0000006HP:0000006Autosomal dominant inheritance0GDF6 CL E G H3922554221OMIM:118100Klippel-Feil syndrome 1, autosomal dominant64
HP:0000006HP:0000006Autosomal dominant inheritance0GDF6 CL E G H3922554221OMIM:613094MICROPHTHALMIA, ISOLATED 4; MCOP464
HP:0000006HP:0000006Autosomal dominant inheritance0GDF6 CL E G H3922554221OMIM:613703MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB664
HP:0000006HP:0000006Autosomal dominant inheritance0GDF6 CL E G H3922554221OMIM:617898Multiple synostoses syndrome 4.64
HP:0000006HP:0000006Autosomal dominant inheritance0GDNF CL E G H26684232OMIM:613711Hirschsprung disease, susceptibility to, 3.59
HP:0000006HP:0000006Autosomal dominant inheritance0GFAP CL E G H26704235OMIM:203450Alexander disease.188
HP:0000006HP:0000006Autosomal dominant inheritance0GFI1 CL E G H26724237OMIM:607847Neutropenia, nonimmune chronic idiopathic, of adults.56
HP:0000006HP:0000006Autosomal dominant inheritance0GFI1 CL E G H26724237OMIM:613107Neutropenia, severe congenital, 2, autosomal dominant.56
HP:0000006HP:0000006Autosomal dominant inheritance0GFI1B CL E G H83284238OMIM:187900Bleeding disorder, platelet-type, 17.3
HP:0000006HP:0000006Autosomal dominant inheritance0GH1 CL E G H26884261OMIM:173100Isolated growth hormone deficiency, type II.50
HP:0000006HP:0000006Autosomal dominant inheritance0GHR CL E G H26904263OMIM:604271Growth hormone insensitivity, partial.98
HP:0000006HP:0000006Autosomal dominant inheritance0GHR CL E G H26904263OMIM:143890Hypercholesterolemia, familial, 198
HP:0000006HP:0000006Autosomal dominant inheritance0GHRL CL E G H5173818129OMIM:601665OBESITY.4
HP:0000006HP:0000006Autosomal dominant inheritance0GHSR CL E G H26934267OMIM:615925Growth hormone deficiency, isolated partial.37
HP:0000006HP:0000006Autosomal dominant inheritance0GIGYF2 CL E G H2605811960OMIM:607688PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK118
HP:0000006HP:0000006Autosomal dominant inheritance0GIPC1 CL E G H107551226OMIM:618940OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0000006HP:0000006Autosomal dominant inheritance0GJA1 CL E G H26974274OMIM:600309Atrioventricular septal defect 3.68
HP:0000006HP:0000006Autosomal dominant inheritance0GJA1 CL E G H26974274OMIM:617525Erythrokeratodermia variabilis et progressiva 3.68
HP:0000006HP:0000006Autosomal dominant inheritance0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia.68
HP:0000006HP:0000006Autosomal dominant inheritance0GJA1 CL E G H26974274OMIM:104100Palmoplantar keratoderma with congenital alopecia68
HP:0000006HP:0000006Autosomal dominant inheritance0GJA1 CL E G H26974274OMIM:186100Syndactyly, type III.68
HP:0000006HP:0000006Autosomal dominant inheritance0GJA3 CL E G H27004277OMIM:601885Cataract, zonular pulverulent 3.88
HP:0000006HP:0000006Autosomal dominant inheritance0GJA5 CL E G H27024279OMIM:614049Atrial fibrillation, familial, 11.39
HP:0000006HP:0000006Autosomal dominant inheritance0GJA5 CL E G H27024279OMIM:108770Atrial standstill 1.39
HP:0000006HP:0000006Autosomal dominant inheritance0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb.39
HP:0000006HP:0000006Autosomal dominant inheritance0GJA8 CL E G H27034281OMIM:116200Cataract 1, multiple types.34
HP:0000006HP:0000006Autosomal dominant inheritance0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb.34
HP:0000006HP:0000006Autosomal dominant inheritance0GJB2 CL E G H27064284OMIM:601544Deafness, autosomal dominant nonsyndromic sensorineural 3.199
HP:0000006HP:0000006Autosomal dominant inheritance0GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness.199
HP:0000006HP:0000006Autosomal dominant inheritance0GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant.199
HP:0000006HP:0000006Autosomal dominant inheritance0GJB2 CL E G H27064284OMIM:148350Keratoderma, palmoplantar, with deafness.199
HP:0000006HP:0000006Autosomal dominant inheritance0GJB2 CL E G H27064284OMIM:149200Knuckle pads, leukonychia, and sensorineural deafness.199
HP:0000006HP:0000006Autosomal dominant inheritance0GJB2 CL E G H27064284OMIM:124500VOHWINKEL SYNDROME; VOWNKL199
HP:0000006HP:0000006Autosomal dominant inheritance0GJB3 CL E G H27074285OMIM:612644Deafness, autosomal dominant 2B.74
HP:0000006HP:0000006Autosomal dominant inheritance0GJB3 CL E G H27074285OMIM:133200Erythrokeratodermia variabilis et progressiva 174
HP:0000006HP:0000006Autosomal dominant inheritance0GJB4 CL E G H1275344286OMIM:617524Erythrokeratodermia variabilis et progressiva 2.12
HP:0000006HP:0000006Autosomal dominant inheritance0GJB6 CL E G H108044288OMIM:129500Clouston syndrome.56
HP:0000006HP:0000006Autosomal dominant inheritance0GJB6 CL E G H108044288OMIM:612643Deafness, autosomal dominant 3B.56
HP:0000006HP:0000006Autosomal dominant inheritance0GJC2 CL E G H5716517494OMIM:613480Lymphedema, hereditary, IC.37
HP:0000006HP:0000006Autosomal dominant inheritance0GLI2 CL E G H27364318OMIM:615849Culler-Jones syndrome.173
HP:0000006HP:0000006Autosomal dominant inheritance0GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0000006HP:0000006Autosomal dominant inheritance0GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0000006HP:0000006Autosomal dominant inheritance0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0000006HP:0000006Autosomal dominant inheritance0GLI3 CL E G H27374319OMIM:174200Polydactyly, postaxial, type A1.270
HP:0000006HP:0000006Autosomal dominant inheritance0GLI3 CL E G H27374319OMIM:174700Polydactyly, preaxial IV.270
HP:0000006HP:0000006Autosomal dominant inheritance0GLMN CL E G H1114614373OMIM:138000Glomuvenous malformations.37
HP:0000006HP:0000006Autosomal dominant inheritance0GLRA1 CL E G H27414326OMIM:149400Hyperekplexia 1.63
HP:0000006HP:0000006Autosomal dominant inheritance0GLS CL E G H27444331OMIM:618339Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development.
HP:0000006HP:0000006Autosomal dominant inheritance0GLUD1 CL E G H27464335OMIM:606762Hyperinsulinemic hypoglycemia, familial, 6.56
HP:0000006HP:0000006Autosomal dominant inheritance0GLUD2 CL E G H27474336OMIM:168600Parkinson disease, late-onset.1
HP:0000006HP:0000006Autosomal dominant inheritance0GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 6.3
HP:0000006HP:0000006Autosomal dominant inheritance0GNA11 CL E G H27674379OMIM:615361Hypocalcemia, autosomal dominant 2.16
HP:0000006HP:0000006Autosomal dominant inheritance0GNA11 CL E G H27674379OMIM:145981Hypocalciuric hypercalcemia, familial, type II16
HP:0000006HP:0000006Autosomal dominant inheritance0GNAI1 CL E G H27704384OMIM:619854
HP:0000006HP:0000006Autosomal dominant inheritance0GNAI2 CL E G H27714385OMIM:192605Ventricular tachycardia, familial.4
HP:0000006HP:0000006Autosomal dominant inheritance0GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 1.2
HP:0000006HP:0000006Autosomal dominant inheritance0GNAL CL E G H27744388OMIM:615073Dystonia 25.13
HP:0000006HP:0000006Autosomal dominant inheritance0GNAO1 CL E G H27754389OMIM:615473Epileptic encephalopathy, early infantile, 17.36
HP:0000006HP:0000006Autosomal dominant inheritance0GNAO1 CL E G H27754389OMIM:617493Neurodevelopmental disorder with involuntary movements.36
HP:0000006HP:0000006Autosomal dominant inheritance0GNAQ CL E G H27764390OMIM:163000Nevi flammei, familial multiple.7
HP:0000006HP:0000006Autosomal dominant inheritance0GNAS CL E G H27784392OMIM:166350Osseous heteroplasia, progressive.101
HP:0000006HP:0000006Autosomal dominant inheritance0GNAS CL E G H27784392OMIM:103580Pseudohypoparathyroidism, type IA.101
HP:0000006HP:0000006Autosomal dominant inheritance0GNAS CL E G H27784392OMIM:603233Pseudohypoparathyroidism, type IB101
HP:0000006HP:0000006Autosomal dominant inheritance0GNAS CL E G H27784392OMIM:612462Pseudohypoparathyroidism, type IC.101
HP:0000006HP:0000006Autosomal dominant inheritance0GNAS CL E G H27784392OMIM:612463PSEUDOPSEUDOHYPOPARATHYROIDISM.101
HP:0000006HP:0000006Autosomal dominant inheritance0GNAS-AS1 CL E G H14977524872OMIM:603233Pseudohypoparathyroidism, type IB1
HP:0000006HP:0000006Autosomal dominant inheritance0GNAT1 CL E G H27794393OMIM:610444Night blindness, congenital stationary, autosomal dominant 3.39
HP:0000006HP:0000006Autosomal dominant inheritance0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 42.12
HP:0000006HP:0000006Autosomal dominant inheritance0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000006HP:0000006Autosomal dominant inheritance0GNB2 CL E G H27834398OMIM:619464SICK SINUS SYNDROME 4; SSS4
HP:0000006HP:0000006Autosomal dominant inheritance0GNB4 CL E G H5934520731OMIM:615185Charcot-Marie-Tooth disease, dominant intermediate F.12
HP:0000006HP:0000006Autosomal dominant inheritance0GNE CL E G H1002023657OMIM:269921SIALURIA.173
HP:0000006HP:0000006Autosomal dominant inheritance0GP1BA CL E G H28114439OMIM:153670Bernard-Soulier syndrome, type A2, autosomal dominant.23
HP:0000006HP:0000006Autosomal dominant inheritance0GP1BA CL E G H28114439OMIM:177820Pseudo-Von willebrand disease.23
HP:0000006HP:0000006Autosomal dominant inheritance0GPC3 CL E G H27194451OMIM:194070Wilms tumor 1.73
HP:0000006HP:0000006Autosomal dominant inheritance0GPC4 CL E G H22394452OMIM:194070Wilms tumor 1.
HP:0000006HP:0000006Autosomal dominant inheritance0GPD1L CL E G H2317128956OMIM:611777BRUGADA SYNDROME 2; BRGDA297
HP:0000006HP:0000006Autosomal dominant inheritance0GPD2 CL E G H28204456OMIM:125853Diabetes mellitus, noninsulin-dependent.3
HP:0000006HP:0000006Autosomal dominant inheritance0GPHN CL E G H1024315465OMIM:149400Hyperekplexia 1.18
HP:0000006HP:0000006Autosomal dominant inheritance0GPR161 CL E G H2343223694OMIM:155255MEDULLOBLASTOMA.2
HP:0000006HP:0000006Autosomal dominant inheritance0GREB1L CL E G H8000031042OMIM:619274DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000006HP:0000006Autosomal dominant inheritance0GREB1L CL E G H8000031042OMIM:617805Renal hypodysplasia/aplasia 3.
HP:0000006HP:0000006Autosomal dominant inheritance0GREM2 CL E G H6438817655OMIM:617275Tooth agenesis, selective, 9.2
HP:0000006HP:0000006Autosomal dominant inheritance0GRHL2 CL E G H799772799OMIM:618031Corneal dystrophy, posterior polymorphous, 4.33
HP:0000006HP:0000006Autosomal dominant inheritance0GRHL2 CL E G H799772799OMIM:608641Deafness, autosomal dominant nonsyndromic sensorineural 28.33
HP:0000006HP:0000006Autosomal dominant inheritance0GRHL3 CL E G H5782225839OMIM:606713Van der woude syndrome 2.12
HP:0000006HP:0000006Autosomal dominant inheritance0GRIA1 CL E G H28904571OMIM:6199273
HP:0000006HP:0000006Autosomal dominant inheritance0GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0000006HP:0000006Autosomal dominant inheritance0GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities.
HP:0000006HP:0000006Autosomal dominant inheritance0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0000006HP:0000006Autosomal dominant inheritance0GRIN1 CL E G H29024584OMIM:614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant.108
HP:0000006HP:0000006Autosomal dominant inheritance0GRIN2A CL E G H29034585OMIM:245570EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD434
HP:0000006HP:0000006Autosomal dominant inheritance0GRIN2B CL E G H29044586OMIM:616139Epileptic encephalopathy, early infantile, 27.274
HP:0000006HP:0000006Autosomal dominant inheritance0GRIN2B CL E G H29044586OMIM:613970Mental retardation, autosomal dominant 6, with or without seizures.274
HP:0000006HP:0000006Autosomal dominant inheritance0GRIN2D CL E G H29064588OMIM:617162Epileptic encephalopathy, early infantile, 46.2
HP:0000006HP:0000006Autosomal dominant inheritance0GRM1 CL E G H29114593OMIM:617691SPINOCEREBELLAR ATAXIA 44; SCA448
HP:0000006HP:0000006Autosomal dominant inheritance0GRN CL E G H28964601OMIM:607485Frontotemporal lobar degeneration with TDP43 inclusions.126
HP:0000006HP:0000006Autosomal dominant inheritance0GSDME CL E G H16872810OMIM:600994Deafness, autosomal dominant nonsyndromic sensorineural 5.87
HP:0000006HP:0000006Autosomal dominant inheritance0GSN CL E G H29344620OMIM:105120Amyloidosis, Finnish type.53
HP:0000006HP:0000006Autosomal dominant inheritance0GUCA1A CL E G H29784678OMIM:602093Cone dystrophy 3.24
HP:0000006HP:0000006Autosomal dominant inheritance0GUCA1B CL E G H29794679OMIM:613827RETINITIS PIGMENTOSA 48; RP4836
HP:0000006HP:0000006Autosomal dominant inheritance0GUCY2C CL E G H29844688OMIM:614616Diarrhea 6.12
HP:0000006HP:0000006Autosomal dominant inheritance0GUCY2D CL E G H30004689OMIM:215500Choroidal dystrophy, central areolar 1.124
HP:0000006HP:0000006Autosomal dominant inheritance0GUCY2D CL E G H30004689OMIM:601777Cone-Rod dystrophy 6.124
HP:0000006HP:0000006Autosomal dominant inheritance0H1-4 CL E G H30084718OMIM:617537Rahman syndrome.
HP:0000006HP:0000006Autosomal dominant inheritance0H19 CL E G H2831204713OMIM:194070Wilms tumor 1.4
HP:0000006HP:0000006Autosomal dominant inheritance0H19-ICR CL E G H105259599OMIM:130650Beckwith-Wiedemann syndrome.
HP:0000006HP:0000006Autosomal dominant inheritance0H19-ICR CL E G H105259599OMIM:194071Multiple tumor-associated chromosome region 1.
HP:0000006HP:0000006Autosomal dominant inheritance0H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome.
HP:0000006HP:0000006Autosomal dominant inheritance0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000006HP:0000006Autosomal dominant inheritance0H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0000006HP:0000006Autosomal dominant inheritance0H4C11 CL E G H83634785OMIM:619759TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0000006HP:0000006Autosomal dominant inheritance0H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000006HP:0000006Autosomal dominant inheritance0H4C5 CL E G H83674790OMIM:619950
HP:0000006HP:0000006Autosomal dominant inheritance0H4C9 CL E G H82944793OMIM:619951
HP:0000006HP:0000006Autosomal dominant inheritance0HABP2 CL E G H30264798OMIM:188050Thrombophiliavenous thromboembolism, included.58
HP:0000006HP:0000006Autosomal dominant inheritance0HABP2 CL E G H30264798OMIM:616535Thyroid cancer, nonmedullary, 5.58
HP:0000006HP:0000006Autosomal dominant inheritance0HARS1 CL E G H30354816OMIM:616625Charcot-Marie-Tooth disease, axonal, type 2W
HP:0000006HP:0000006Autosomal dominant inheritance0HBA1 CL E G H30394823OMIM:617981ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7200
HP:0000006HP:0000006Autosomal dominant inheritance0HBA1 CL E G H30394823OMIM:140700Heinz body anemias.200
HP:0000006HP:0000006Autosomal dominant inheritance0HBA1 CL E G H30394823OMIM:617973METHEMOGLOBINEMIA, ALPHA TYPE200
HP:0000006HP:0000006Autosomal dominant inheritance0HBA2 CL E G H30404824OMIM:617981ERYTHROCYTOSIS, FAMILIAL, 7; ECYT788
HP:0000006HP:0000006Autosomal dominant inheritance0HBA2 CL E G H30404824OMIM:140700Heinz body anemias.88
HP:0000006HP:0000006Autosomal dominant inheritance0HBB CL E G H30434827OMIM:603902BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE580
HP:0000006HP:0000006Autosomal dominant inheritance0HBB CL E G H30434827OMIM:617980ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6580
HP:0000006HP:0000006Autosomal dominant inheritance0HBB CL E G H30434827OMIM:141749Fetal hemoglobin quantitative trait locus 1.580
HP:0000006HP:0000006Autosomal dominant inheritance0HBB CL E G H30434827OMIM:140700Heinz body anemias.580
HP:0000006HP:0000006Autosomal dominant inheritance0HBB CL E G H30434827OMIM:617971Methemoglobinemia, Beta type.580
HP:0000006HP:0000006Autosomal dominant inheritance0HBG1 CL E G H30474831OMIM:141749Fetal hemoglobin quantitative trait locus 1.35
HP:0000006HP:0000006Autosomal dominant inheritance0HBG2 CL E G H30484832OMIM:613977Cyanosis, transient neonatal.50
HP:0000006HP:0000006Autosomal dominant inheritance0HBG2 CL E G H30484832OMIM:141749Fetal hemoglobin quantitative trait locus 1.50
HP:0000006HP:0000006Autosomal dominant inheritance0HCN1 CL E G H3489804845OMIM:615871Epileptic encephalopathy, early infantile, 24.54
HP:0000006HP:0000006Autosomal dominant inheritance0HCN1 CL E G H3489804845OMIM:618482Generalized epilepsy with febrile seizures plus, type 1054
HP:0000006HP:0000006Autosomal dominant inheritance0HCN2 CL E G H6104846OMIM:602477Febrile seizures, familial, 2.7
HP:0000006HP:0000006Autosomal dominant inheritance0HCN4 CL E G H1002116882OMIM:619521EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18; EIG18185
HP:0000006HP:0000006Autosomal dominant inheritance0HCN4 CL E G H1002116882OMIM:163800Sick sinus syndrome 2.185
HP:0000006HP:0000006Autosomal dominant inheritance0HCRT CL E G H30604847OMIM:161400Narcolepsy 1.1
HP:0000006HP:0000006Autosomal dominant inheritance0HDAC4 CL E G H975914063OMIM:600430Chromosome 2q37 deletion syndrome.33
HP:0000006HP:0000006Autosomal dominant inheritance0HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0000006HP:0000006Autosomal dominant inheritance0HDC CL E G H30674855OMIM:137580Gilles de la tourette syndrome.1
HP:0000006HP:0000006Autosomal dominant inheritance0HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0000006HP:0000006Autosomal dominant inheritance0HEPACAM CL E G H22029626361OMIM:613926Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation.82
HP:0000006HP:0000006Autosomal dominant inheritance0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome.38
HP:0000006HP:0000006Autosomal dominant inheritance0HESX1 CL E G H88204877OMIM:182230Septooptic dysplasia.21
HP:0000006HP:0000006Autosomal dominant inheritance0HFE CL E G H30774886OMIM:104300Alzheimer disease.38
HP:0000006HP:0000006Autosomal dominant inheritance0HFE CL E G H30774886OMIM:176100Porphyria cutanea tarda.38
HP:0000006HP:0000006Autosomal dominant inheritance0HFE CL E G H30774886OMIM:176200Porphyria variegata.38
HP:0000006HP:0000006Autosomal dominant inheritance0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 43.13
HP:0000006HP:0000006Autosomal dominant inheritance0HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0000006HP:0000006Autosomal dominant inheritance0HK1 CL E G H30984922OMIM:617460Retinitis pigmentosa 79.11
HP:0000006HP:0000006Autosomal dominant inheritance0HLA-DQB1 CL E G H31194944OMIM:123400Creutzfeldt-Jakob disease.
HP:0000006HP:0000006Autosomal dominant inheritance0HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 1.2
HP:0000006HP:0000006Autosomal dominant inheritance0HLA-G CL E G H31354964OMIM:600807Asthma, susceptibility to.
HP:0000006HP:0000006Autosomal dominant inheritance0HMBS CL E G H31454982OMIM:176000Porphyria, acute intermittent.81
HP:0000006HP:0000006Autosomal dominant inheritance0HMCN1 CL E G H8387219194OMIM:603075Macular degeneration, age-related, 1262
HP:0000006HP:0000006Autosomal dominant inheritance0HMGA1 CL E G H31595010OMIM:125853Diabetes mellitus, noninsulin-dependent.1
HP:0000006HP:0000006Autosomal dominant inheritance0HMGA2 CL E G H80915009OMIM:618908SILVER-RUSSELL SYNDROME 5; SRS52
HP:0000006HP:0000006Autosomal dominant inheritance0HMMR CL E G H31615012OMIM:114480Breast cancer.
HP:0000006HP:0000006Autosomal dominant inheritance0HNF1A CL E G H692711621OMIM:125853Diabetes mellitus, noninsulin-dependent.161
HP:0000006HP:0000006Autosomal dominant inheritance0HNF1A CL E G H692711621OMIM:142330Hepatic adenomas, familial.161
HP:0000006HP:0000006Autosomal dominant inheritance0HNF1A CL E G H692711621OMIM:600496Maturity-onset diabetes of the young, type III.161
HP:0000006HP:0000006Autosomal dominant inheritance0HNF1B CL E G H692811630OMIM:125853Diabetes mellitus, noninsulin-dependent.90
HP:0000006HP:0000006Autosomal dominant inheritance0HNF1B CL E G H692811630OMIM:137920Renal cysts and diabetes syndrome.90
HP:0000006HP:0000006Autosomal dominant inheritance0HNF4A CL E G H31725024OMIM:125853Diabetes mellitus, noninsulin-dependent.138
HP:0000006HP:0000006Autosomal dominant inheritance0HNF4A CL E G H31725024OMIM:616026Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young.138
HP:0000006HP:0000006Autosomal dominant inheritance0HNF4A CL E G H31725024OMIM:125850Maturity-onset diabetes of the young, type 1.138
HP:0000006HP:0000006Autosomal dominant inheritance0HNMT CL E G H31765028OMIM:600807Asthma, susceptibility to.3
HP:0000006HP:0000006Autosomal dominant inheritance0HNRNPA1 CL E G H31785031OMIM:615426Amyotrophic lateral sclerosis 2031
HP:0000006HP:0000006Autosomal dominant inheritance0HNRNPA1 CL E G H31785031OMIM:615424Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3.31
HP:0000006HP:0000006Autosomal dominant inheritance0HNRNPA2B1 CL E G H31815033OMIM:615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 25
HP:0000006HP:0000006Autosomal dominant inheritance0HNRNPDL CL E G H99875037OMIM:609115Limb-girdle muscular dystrophy, type 1G.5
HP:0000006HP:0000006Autosomal dominant inheritance0HNRNPH1 CL E G H31875041OMIM:620083
HP:0000006HP:0000006Autosomal dominant inheritance0HNRNPK CL E G H31905044OMIM:616580Au-Kline syndrome.8
HP:0000006HP:0000006Autosomal dominant inheritance0HNRNPR CL E G H102365047OMIM:620073
HP:0000006HP:0000006Autosomal dominant inheritance0HNRNPU CL E G H31925048OMIM:617391Epileptic encephalopathy, early infantile, 54.39
HP:0000006HP:0000006Autosomal dominant inheritance0HOMER2 CL E G H945517513OMIM:616707DEAFNESS, AUTOSOMAL DOMINANT 68; DFNA681
HP:0000006HP:0000006Autosomal dominant inheritance0HOXA11 CL E G H32075101OMIM:605432Radioulnar synostosis with amegakaryocytic thrombocytopenia.3
HP:0000006HP:0000006Autosomal dominant inheritance0HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome.11
HP:0000006HP:0000006Autosomal dominant inheritance0HOXA13 CL E G H32095102OMIM:176305Preaxial deficiency, postaxial polydactyly, and hypospadias.11
HP:0000006HP:0000006Autosomal dominant inheritance0HOXA2 CL E G H31995103OMIM:612290MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE21
HP:0000006HP:0000006Autosomal dominant inheritance0HOXD10 CL E G H32365133OMIM:192950Vertical talus, congenital.33
HP:0000006HP:0000006Autosomal dominant inheritance0HOXD13 CL E G H32395136OMIM:113200Brachydactyly, type D.25
HP:0000006HP:0000006Autosomal dominant inheritance0HOXD13 CL E G H32395136OMIM:113300Brachydactyly, type E.25
HP:0000006HP:0000006Autosomal dominant inheritance0HOXD13 CL E G H32395136OMIM:186300Syndactyly, type V.25
HP:0000006HP:0000006Autosomal dominant inheritance0HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 1.25
HP:0000006HP:0000006Autosomal dominant inheritance0HPD CL E G H32425147OMIM:140350HAWKINSINURIA.23
HP:0000006HP:0000006Autosomal dominant inheritance0HRAS CL E G H32655173OMIM:109800Bladder cancer.113
HP:0000006HP:0000006Autosomal dominant inheritance0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0000006HP:0000006Autosomal dominant inheritance0HRAS CL E G H32655173OMIM:188470Thyroid cancer, nonmedullary, 2113
HP:0000006HP:0000006Autosomal dominant inheritance0HRG CL E G H32735181OMIM:613116Thrombophilia due to histidine-rich glycoprotein deficiency.4
HP:0000006HP:0000006Autosomal dominant inheritance0HRURF CL E G H12076613755085OMIM:146550Marie unna hereditary hypotrichosis 1.
HP:0000006HP:0000006Autosomal dominant inheritance0HS3ST6 CL E G H6471114178OMIM:619367ANGIOEDEMA, HEREDITARY, 8; HAE8
HP:0000006HP:0000006Autosomal dominant inheritance0HS6ST1 CL E G H93945201OMIM:614880Hypogonadotropic hypogonadism 15 with or without anosmia.8
HP:0000006HP:0000006Autosomal dominant inheritance0HSD11B1 CL E G H32905208OMIM:614662Cortisone reductase deficiency 2.5
HP:0000006HP:0000006Autosomal dominant inheritance0HSF4 CL E G H32995227OMIM:116800Cataract, lamellar38
HP:0000006HP:0000006Autosomal dominant inheritance0HSPA9 CL E G H33135244OMIM:182170ANEMIA, SIDEROBLASTIC, 4; SIDBA46
HP:0000006HP:0000006Autosomal dominant inheritance0HSPB1 CL E G H33155246OMIM:606595Charcot-Marie-Tooth disease, axonal, type 2F.47
HP:0000006HP:0000006Autosomal dominant inheritance0HSPB1 CL E G H33155246OMIM:608634Neuronopathy, distal hereditary motor, type IIB.47
HP:0000006HP:0000006Autosomal dominant inheritance0HSPB3 CL E G H89885248OMIM:613376Neuronopathy, distal hereditary motor, type IIC.13
HP:0000006HP:0000006Autosomal dominant inheritance0HSPB8 CL E G H2635330171OMIM:608673Charcot-Marie-Tooth disease, axonal, type 2L.38
HP:0000006HP:0000006Autosomal dominant inheritance0HSPB8 CL E G H2635330171OMIM:158590Neuronopathy, distal hereditary motor, type IIA.38
HP:0000006HP:0000006Autosomal dominant inheritance0HSPD1 CL E G H33295261OMIM:605280Spastic paraplegia 13, autosomal dominant.46
HP:0000006HP:0000006Autosomal dominant inheritance0HTR1A CL E G H33505286OMIM:614674Periodic fever, menstrual cycle-dependent.2
HP:0000006HP:0000006Autosomal dominant inheritance0HTR2A CL E G H33565293OMIM:164230Obsessive-Compulsive disorder 1.4
HP:0000006HP:0000006Autosomal dominant inheritance0HTR2A CL E G H33565293OMIM:181500SCHIZOPHRENIA.4
HP:0000006HP:0000006Autosomal dominant inheritance0HTRA1 CL E G H56549476OMIM:616779Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 234
HP:0000006HP:0000006Autosomal dominant inheritance0HTRA2 CL E G H2742914348OMIM:610297PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK1339
HP:0000006HP:0000006Autosomal dominant inheritance0HTT CL E G H30644851OMIM:143100Huntington disease.12
HP:0000006HP:0000006Autosomal dominant inheritance0HYMAI CL E G H570615326OMIM:601410Diabetes mellitus, transient neonatal, 1.
HP:0000006HP:0000006Autosomal dominant inheritance0ICOS CL E G H298515351OMIM:240500Immunodeficiency, common variable, 232
HP:0000006HP:0000006Autosomal dominant inheritance0IDH1 CL E G H34175382OMIM:137800Glioma susceptibility 1.15
HP:0000006HP:0000006Autosomal dominant inheritance0IDH2 CL E G H34185383OMIM:613657D-2-hydroxyglutaric aciduria 229
HP:0000006HP:0000006Autosomal dominant inheritance0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 7.28
HP:0000006HP:0000006Autosomal dominant inheritance0IFIH1 CL E G H6413518873OMIM:182250Singleton-Merten syndrome 1.28
HP:0000006HP:0000006Autosomal dominant inheritance0IFITM5 CL E G H38773316644OMIM:610967Osteogenesis imperfecta, type V8
HP:0000006HP:0000006Autosomal dominant inheritance0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0000006HP:0000006Autosomal dominant inheritance0IFNGR1 CL E G H34595439OMIM:615978Immunodeficiency 27B.60
HP:0000006HP:0000006Autosomal dominant inheritance0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to.268
HP:0000006HP:0000006Autosomal dominant inheritance0IGF2 CL E G H34815466OMIM:130650Beckwith-Wiedemann syndrome.9
HP:0000006HP:0000006Autosomal dominant inheritance0IGF2 CL E G H34815466OMIM:616489Growth restriction, severe, with distinctive facies.9
HP:0000006HP:0000006Autosomal dominant inheritance0IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome.9
HP:0000006HP:0000006Autosomal dominant inheritance0IGF2 CL E G H34815466OMIM:194070Wilms tumor 1.9
HP:0000006HP:0000006Autosomal dominant inheritance0IGF2BP2 CL E G H1064428867OMIM:125853Diabetes mellitus, noninsulin-dependent.1
HP:0000006HP:0000006Autosomal dominant inheritance0IHH CL E G H35495956OMIM:112500Brachydactyly, type A1.44
HP:0000006HP:0000006Autosomal dominant inheritance0IKBKB CL E G H35515960OMIM:618204IMMUNODEFICIENCY 15A; IMD15A4
HP:0000006HP:0000006Autosomal dominant inheritance0IKZF1 CL E G H1032013176OMIM:616873IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID138
HP:0000006HP:0000006Autosomal dominant inheritance0IKZF3 CL E G H2280613178OMIM:619437IMMUNODEFICIENCY 84; IMD84
HP:0000006HP:0000006Autosomal dominant inheritance0IKZF5 CL E G H6437614283OMIM:619130THROMBOCYTOPENIA 7; THC7
HP:0000006HP:0000006Autosomal dominant inheritance0IL13 CL E G H35965973OMIM:600807Asthma, susceptibility to.2
HP:0000006HP:0000006Autosomal dominant inheritance0IL17F CL E G H11274416404OMIM:613956CANDIDIASIS, FAMILIAL, 6; CANDF614
HP:0000006HP:0000006Autosomal dominant inheritance0IL17RD CL E G H5475617616OMIM:615267Hypogonadotropic hypogonadism 18 with or without anosmia.9
HP:0000006HP:0000006Autosomal dominant inheritance0IL31RA CL E G H13339618969OMIM:613955Amyloidosis, primary localized cutaneous, 2.1
HP:0000006HP:0000006Autosomal dominant inheritance0IL4R CL E G H35666015OMIM:147050Ige responsiveness, atopic.3
HP:0000006HP:0000006Autosomal dominant inheritance0IL6 CL E G H35696018OMIM:125853Diabetes mellitus, noninsulin-dependent.2
HP:0000006HP:0000006Autosomal dominant inheritance0IL6 CL E G H35696018OMIM:148000Kaposi sarcoma, susceptibility to.2
HP:0000006HP:0000006Autosomal dominant inheritance0IL6ST CL E G H35726021OMIM:619752HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0000006HP:0000006Autosomal dominant inheritance0IL6ST CL E G H35726021OMIM:619750IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000006HP:0000006Autosomal dominant inheritance0IMPDH1 CL E G H36146052OMIM:613837Leber congenital amaurosis 1152
HP:0000006HP:0000006Autosomal dominant inheritance0IMPDH1 CL E G H36146052OMIM:180105Retinitis pigmentosa 10.52
HP:0000006HP:0000006Autosomal dominant inheritance0IMPG1 CL E G H36176055OMIM:153870Macular dystrophy, concentric annular.4
HP:0000006HP:0000006Autosomal dominant inheritance0IMPG1 CL E G H36176055OMIM:616151Macular dystrophy, vitelliform, 4.4
HP:0000006HP:0000006Autosomal dominant inheritance0IMPG2 CL E G H5093918362OMIM:616152Macular dystrophy, vitelliform, 5.120
HP:0000006HP:0000006Autosomal dominant inheritance0INAVA CL E G H5576525599OMIM:618077INFLAMMATORY BOWEL DISEASE 29; IBD29
HP:0000006HP:0000006Autosomal dominant inheritance0INF2 CL E G H6442323791OMIM:614455Charcot-Marie-Tooth disease, dominant intermediate E.135
HP:0000006HP:0000006Autosomal dominant inheritance0INF2 CL E G H6442323791OMIM:613237FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5135
HP:0000006HP:0000006Autosomal dominant inheritance0INS CL E G H36306081OMIM:125852Diabetes mellitus, insulin-dependent, 2.62
HP:0000006HP:0000006Autosomal dominant inheritance0INS CL E G H36306081OMIM:618858DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM462
HP:0000006HP:0000006Autosomal dominant inheritance0INS CL E G H36306081OMIM:616214Hyperproinsulinemia62
HP:0000006HP:0000006Autosomal dominant inheritance0INS CL E G H36306081OMIM:613370MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY1062
HP:0000006HP:0000006Autosomal dominant inheritance0INSL3 CL E G H36406086OMIM:219050Cryptorchidism, unilateral or bilateral.5
HP:0000006HP:0000006Autosomal dominant inheritance0INSR CL E G H36436091OMIM:609968Hyperinsulinemic hypoglycemia, familial, 5.229
HP:0000006HP:0000006Autosomal dominant inheritance0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome.
HP:0000006HP:0000006Autosomal dominant inheritance0IRF1 CL E G H36596116OMIM:211980Lung cancer, susceptibility to.2
HP:0000006HP:0000006Autosomal dominant inheritance0IRF2BP2 CL E G H35994821729OMIM:617765IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID144
HP:0000006HP:0000006Autosomal dominant inheritance0IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures.
HP:0000006HP:0000006Autosomal dominant inheritance0IRF3 CL E G H36616118OMIM:616532Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7.1
HP:0000006HP:0000006Autosomal dominant inheritance0IRF6 CL E G H36646121OMIM:608864Orofacial cleft 6, susceptibility to.99
HP:0000006HP:0000006Autosomal dominant inheritance0IRF6 CL E G H36646121OMIM:119500Popliteal pterygium syndrome.99
HP:0000006HP:0000006Autosomal dominant inheritance0IRF6 CL E G H36646121OMIM:119300van der Woude syndrome 1.99
HP:0000006HP:0000006Autosomal dominant inheritance0IRF8 CL E G H33945358OMIM:614893IMMUNODEFICIENCY 32A; IMD32A5
HP:0000006HP:0000006Autosomal dominant inheritance0IRS1 CL E G H36676125OMIM:125853Diabetes mellitus, noninsulin-dependent.5
HP:0000006HP:0000006Autosomal dominant inheritance0IRS2 CL E G H86606126OMIM:125853Diabetes mellitus, noninsulin-dependent.3
HP:0000006HP:0000006Autosomal dominant inheritance0ITGA2B CL E G H36746138OMIM:187800Bleeding disorder, platelet-type, 1669
HP:0000006HP:0000006Autosomal dominant inheritance0ITGB3 CL E G H36906156OMIM:619271BLEEDING DISORDER, PLATELET-TYPE, 24; BDPLT2480
HP:0000006HP:0000006Autosomal dominant inheritance0ITM2B CL E G H94456174OMIM:176500Cerebral amyloid angiopathy, itm2b-related, 1.3
HP:0000006HP:0000006Autosomal dominant inheritance0ITM2B CL E G H94456174OMIM:117300Dementia, familial danish.3
HP:0000006HP:0000006Autosomal dominant inheritance0ITM2B CL E G H94456174OMIM:616079Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities.3
HP:0000006HP:0000006Autosomal dominant inheritance0ITPR1 CL E G H37086180OMIM:206700Gillespie syndrome.177
HP:0000006HP:0000006Autosomal dominant inheritance0ITPR1 CL E G H37086180OMIM:606658Spinocerebellar ataxia 15.177
HP:0000006HP:0000006Autosomal dominant inheritance0ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29.177
HP:0000006HP:0000006Autosomal dominant inheritance0IVNS1ABP CL E G H1062516951OMIM:618969IMMUNODEFICIENCY 70; IMD70
HP:0000006HP:0000006Autosomal dominant inheritance0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0000006HP:0000006Autosomal dominant inheritance0JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0000006HP:0000006Autosomal dominant inheritance0JAG1 CL E G H1826188OMIM:617992DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE257
HP:0000006HP:0000006Autosomal dominant inheritance0JAG1 CL E G H1826188OMIM:187500Tetralogy of Fallot.257
HP:0000006HP:0000006Autosomal dominant inheritance0JAK1 CL E G H37166190OMIM:618999AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE12
HP:0000006HP:0000006Autosomal dominant inheritance0JAK2 CL E G H37176192OMIM:133100Erythrocytosis, familial, 1.57
HP:0000006HP:0000006Autosomal dominant inheritance0JAK2 CL E G H37176192OMIM:601626Leukemia, acute myeloid.57
HP:0000006HP:0000006Autosomal dominant inheritance0JAK2 CL E G H37176192OMIM:263300Polycythemia vera.57
HP:0000006HP:0000006Autosomal dominant inheritance0JAK2 CL E G H37176192OMIM:614521Thrombocythemia 3.57
HP:0000006HP:0000006Autosomal dominant inheritance0JPH1 CL E G H5670414201OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K.1
HP:0000006HP:0000006Autosomal dominant inheritance0JPH2 CL E G H5715814202OMIM:613873Cardiomyopathy, familial hypertrophic, 17.111
HP:0000006HP:0000006Autosomal dominant inheritance0JPH3 CL E G H5733814203OMIM:606438Huntington disease-like 2.2
HP:0000006HP:0000006Autosomal dominant inheritance0JUP CL E G H37286207OMIM:611528ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12222
HP:0000006HP:0000006Autosomal dominant inheritance0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0000006HP:0000006Autosomal dominant inheritance0KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0000006HP:0000006Autosomal dominant inheritance0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000006HP:0000006Autosomal dominant inheritance0KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome.141
HP:0000006HP:0000006Autosomal dominant inheritance0KAT6B CL E G H2352217582OMIM:603736Ohdo syndrome, sbbys variant.141
HP:0000006HP:0000006Autosomal dominant inheritance0KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000006HP:0000006Autosomal dominant inheritance0KBTBD13 CL E G H39059437227OMIM:609273Nemaline myopathy 6.80
HP:0000006HP:0000006Autosomal dominant inheritance0KCNA1 CL E G H37366218OMIM:160120Episodic ataxia, type 1.145
HP:0000006HP:0000006Autosomal dominant inheritance0KCNA2 CL E G H37376220OMIM:616366Epileptic encephalopathy, early infantile, 32.13
HP:0000006HP:0000006Autosomal dominant inheritance0KCNA5 CL E G H37416224OMIM:612240Atrial fibrillation, familial, 738
HP:0000006HP:0000006Autosomal dominant inheritance0KCNB1 CL E G H37456231OMIM:616056EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE2665
HP:0000006HP:0000006Autosomal dominant inheritance0KCNC1 CL E G H37466233OMIM:616187Epilepsy, progressive myoclonic 7.6
HP:0000006HP:0000006Autosomal dominant inheritance0KCNC2 CL E G H37476234OMIM:619913
HP:0000006HP:0000006Autosomal dominant inheritance0KCNC3 CL E G H37486235OMIM:605259Spinocerebellar ataxia 13.17
HP:0000006HP:0000006Autosomal dominant inheritance0KCND3 CL E G H37526239OMIM:616399Brugada syndrome 9.35
HP:0000006HP:0000006Autosomal dominant inheritance0KCND3 CL E G H37526239OMIM:607346Spinocerebellar ataxia 19.35
HP:0000006HP:0000006Autosomal dominant inheritance0KCNE1 CL E G H37536240OMIM:613695Long QT syndrome 5.148
HP:0000006HP:0000006Autosomal dominant inheritance0KCNE2 CL E G H99926242OMIM:611493ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB443
HP:0000006HP:0000006Autosomal dominant inheritance0KCNE2 CL E G H99926242OMIM:613693Long QT syndrome 6.43
HP:0000006HP:0000006Autosomal dominant inheritance0KCNE3 CL E G H100086243OMIM:613119BRUGADA SYNDROME 6; BRGDA673
HP:0000006HP:0000006Autosomal dominant inheritance0KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome.13
HP:0000006HP:0000006Autosomal dominant inheritance0KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 1.13
HP:0000006HP:0000006Autosomal dominant inheritance0KCNH2 CL E G H37576251OMIM:613688Long QT syndrome 2.901
HP:0000006HP:0000006Autosomal dominant inheritance0KCNH2 CL E G H37576251OMIM:609620SHORT QT SYNDROME 1; SQT1901
HP:0000006HP:0000006Autosomal dominant inheritance0KCNJ11 CL E G H37676257OMIM:125853Diabetes mellitus, noninsulin-dependent.127
HP:0000006HP:0000006Autosomal dominant inheritance0KCNJ11 CL E G H37676257OMIM:618856DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2127
HP:0000006HP:0000006Autosomal dominant inheritance0KCNJ11 CL E G H37676257OMIM:610582Diabetes mellitus, transient neonatal, 3.127
HP:0000006HP:0000006Autosomal dominant inheritance0KCNJ11 CL E G H37676257OMIM:616329Maturity-onset diabetes of the young, type 13.127
HP:0000006HP:0000006Autosomal dominant inheritance0KCNJ13 CL E G H37696259OMIM:193230Snowflake vitreoretinal degeneration42
HP:0000006HP:0000006Autosomal dominant inheritance0KCNJ18 CL E G H10013444439080OMIM:613239Thyrotoxic periodic paralysis, susceptibility to, 2.10
HP:0000006HP:0000006Autosomal dominant inheritance0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:0000006HP:0000006Autosomal dominant inheritance0KCNJ2 CL E G H37596263OMIM:613980Atrial fibrillation, familial, 9.193
HP:0000006HP:0000006Autosomal dominant inheritance0KCNJ2 CL E G H37596263OMIM:609622SHORT QT SYNDROME 3; SQT3193
HP:0000006HP:0000006Autosomal dominant inheritance0KCNJ5 CL E G H37626266OMIM:613677Hyperaldosteronism, familial, type III.128
HP:0000006HP:0000006Autosomal dominant inheritance0KCNJ5 CL E G H37626266OMIM:613485Long QT syndrome 13.128
HP:0000006HP:0000006Autosomal dominant inheritance0KCNJ6 CL E G H37636267OMIM:614098Keppen-Lubinsky syndrome.3
HP:0000006HP:0000006Autosomal dominant inheritance0KCNK18 CL E G H33856719439OMIM:613656MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; MGR134
HP:0000006HP:0000006Autosomal dominant inheritance0KCNK3 CL E G H37776278OMIM:615344Pulmonary hypertension, primary, 4.7
HP:0000006HP:0000006Autosomal dominant inheritance0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome.
HP:0000006HP:0000006Autosomal dominant inheritance0KCNK9 CL E G H513056283OMIM:612292BIRK-BAREL SYNDROME4
HP:0000006HP:0000006Autosomal dominant inheritance0KCNMA1 CL E G H37786284OMIM:618596EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16; EIG16114
HP:0000006HP:0000006Autosomal dominant inheritance0KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0000006HP:0000006Autosomal dominant inheritance0KCNMA1 CL E G H37786284OMIM:609446Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy.114
HP:0000006HP:0000006Autosomal dominant inheritance0KCNMB1 CL E G H37796285OMIM:608622HYPERTENSION, DIASTOLIC, RESISTANCE TO1
HP:0000006HP:0000006Autosomal dominant inheritance0KCNN2 CL E G H37816291OMIM:619724DYSTONIA 34, MYOCLONIC; DYT34
HP:0000006HP:0000006Autosomal dominant inheritance0KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0000006HP:0000006Autosomal dominant inheritance0KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0000006HP:0000006Autosomal dominant inheritance0KCNN4 CL E G H37836293OMIM:616689Dehydrated hereditary stomatocytosis 2.3
HP:0000006HP:0000006Autosomal dominant inheritance0KCNQ1 CL E G H37846294OMIM:607554Atrial fibrillation, familial, 3.730
HP:0000006HP:0000006Autosomal dominant inheritance0KCNQ1 CL E G H37846294OMIM:130650Beckwith-Wiedemann syndrome.730
HP:0000006HP:0000006Autosomal dominant inheritance0KCNQ1 CL E G H37846294OMIM:192500LONG QT SYNDROME 1; LQT1730
HP:0000006HP:0000006Autosomal dominant inheritance0KCNQ1 CL E G H37846294OMIM:609621Short QT syndrome 2730
HP:0000006HP:0000006Autosomal dominant inheritance0KCNQ1OT1 CL E G H109846295OMIM:130650Beckwith-Wiedemann syndrome.1
HP:0000006HP:0000006Autosomal dominant inheritance0KCNQ2 CL E G H37856296OMIM:613720Epileptic encephalopathy, early infantile, 7.528
HP:0000006HP:0000006Autosomal dominant inheritance0KCNQ2 CL E G H37856296OMIM:121200Seizures, benign familial neonatal, 1.528
HP:0000006HP:0000006Autosomal dominant inheritance0KCNQ3 CL E G H37866297OMIM:121201Epilepsy, benign neonatal, 2.302
HP:0000006HP:0000006Autosomal dominant inheritance0KCNQ4 CL E G H91326298OMIM:600101Deafness, autosomal dominant nonsyndromic sensorineural 2.76
HP:0000006HP:0000006Autosomal dominant inheritance0KCNQ5 CL E G H564796299OMIM:617601Mental retardation, autosomal dominant 46.5
HP:0000006HP:0000006Autosomal dominant inheritance0KCNT1 CL E G H5758218865OMIM:615005Epilepsy, nocturnal frontal lobe, 5.321
HP:0000006HP:0000006Autosomal dominant inheritance0KCNT1 CL E G H5758218865OMIM:614959Epileptic encephalopathy, early infantile, 14.321
HP:0000006HP:0000006Autosomal dominant inheritance0KCNT2 CL E G H34345018866OMIM:617771Epileptic encephalopathy, early infantile, 57.1
HP:0000006HP:0000006Autosomal dominant inheritance0KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndrome.11
HP:0000006HP:0000006Autosomal dominant inheritance0KCTD17 CL E G H7973425705OMIM:616398Dystonia 26, myoclonic.1
HP:0000006HP:0000006Autosomal dominant inheritance0KDF1 CL E G H12669526624OMIM:617337Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type.1
HP:0000006HP:0000006Autosomal dominant inheritance0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0000006HP:0000006Autosomal dominant inheritance0KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0000006HP:0000006Autosomal dominant inheritance0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000006HP:0000006Autosomal dominant inheritance0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 1.53
HP:0000006HP:0000006Autosomal dominant inheritance0KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.9
HP:0000006HP:0000006Autosomal dominant inheritance0KDR CL E G H37916307OMIM:602089Hemangioma, capillary infantile.40
HP:0000006HP:0000006Autosomal dominant inheritance0KIDINS220 CL E G H5749829508OMIM:617296SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO4
HP:0000006HP:0000006Autosomal dominant inheritance0KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation.46
HP:0000006HP:0000006Autosomal dominant inheritance0KIF1A CL E G H547888OMIM:614255Mental retardation, autosomal dominant 9.276
HP:0000006HP:0000006Autosomal dominant inheritance0KIF1A CL E G H547888OMIM:610357Spastic paraplegia 30, autosomal recessive276
HP:0000006HP:0000006Autosomal dominant inheritance0KIF1B CL E G H2309516636OMIM:118210Charcot-Marie-Tooth disease, axonal, type 2A1.202
HP:0000006HP:0000006Autosomal dominant inheritance0KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to.202
HP:0000006HP:0000006Autosomal dominant inheritance0KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA.202
HP:0000006HP:0000006Autosomal dominant inheritance0KIF21A CL E G H5560519349OMIM:135700Fibrosis of extraocular muscles, congenital, 1.93
HP:0000006HP:0000006Autosomal dominant inheritance0KIF22 CL E G H38356391OMIM:603546Spondyloepimetaphyseal dysplasia with joint laxity, type 2.14
HP:0000006HP:0000006Autosomal dominant inheritance0KIF23 CL E G H94936392OMIM:105600Anemia, dyserythropoietic congenital, type III.1
HP:0000006HP:0000006Autosomal dominant inheritance0KIF2A CL E G H37966318OMIM:615411Cortical dysplasia, complex, with other brain malformations 3.15
HP:0000006HP:0000006Autosomal dominant inheritance0KIF3B CL E G H93716320OMIM:618955RETINITIS PIGMENTOSA 89; RP89
HP:0000006HP:0000006Autosomal dominant inheritance0KIF5A CL E G H37986323OMIM:617921Amyotrophic lateral sclerosis, susceptibility to, 25.93
HP:0000006HP:0000006Autosomal dominant inheritance0KIF5A CL E G H37986323OMIM:617235Myoclonus, intractable, neonatal.93
HP:0000006HP:0000006Autosomal dominant inheritance0KIF5A CL E G H37986323OMIM:604187Spastic paraplegia 10, autosomal dominant.93
HP:0000006HP:0000006Autosomal dominant inheritance0KIF5C CL E G H38006325OMIM:615282CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM218
HP:0000006HP:0000006Autosomal dominant inheritance0KISS1R CL E G H846344510OMIM:176400Precocious puberty, central.14
HP:0000006HP:0000006Autosomal dominant inheritance0KIT CL E G H38156342OMIM:606764Gastrointestinal stromal tumor.327
HP:0000006HP:0000006Autosomal dominant inheritance0KIT CL E G H38156342OMIM:601626Leukemia, acute myeloid.327
HP:0000006HP:0000006Autosomal dominant inheritance0KIT CL E G H38156342OMIM:154800Mastocytosis, cutaneous.327
HP:0000006HP:0000006Autosomal dominant inheritance0KIT CL E G H38156342OMIM:172800Piebald trait.327
HP:0000006HP:0000006Autosomal dominant inheritance0KITLG CL E G H42546343OMIM:616697DEAFNESS, AUTOSOMAL DOMINANT 69; DFNA699
HP:0000006HP:0000006Autosomal dominant inheritance0KITLG CL E G H42546343OMIM:145250Hyperpigmentation, familial progressive9
HP:0000006HP:0000006Autosomal dominant inheritance0KLF1 CL E G H106616345OMIM:613673Anemia, dyserythropoietic congenital, type IV.42
HP:0000006HP:0000006Autosomal dominant inheritance0KLF1 CL E G H106616345OMIM:111150BLOOD GROUP--LUTHERAN INHIBITOR; INLU42
HP:0000006HP:0000006Autosomal dominant inheritance0KLF11 CL E G H846211811OMIM:610508MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7; MODY778
HP:0000006HP:0000006Autosomal dominant inheritance0KLF13 CL E G H5162113672OMIM:612001Chromosome 15q13.3 microdeletion syndrome.
HP:0000006HP:0000006Autosomal dominant inheritance0KLF6 CL E G H13162235OMIM:176807Prostate cancer.18
HP:0000006HP:0000006Autosomal dominant inheritance0KLHL10 CL E G H31771918829OMIM:615081SPERMATOGENIC FAILURE 11; SPGF113
HP:0000006HP:0000006Autosomal dominant inheritance0KLHL24 CL E G H5480025947OMIM:617294Epidermolysis bullosa simplex, generalized, with scarring and hair loss5
HP:0000006HP:0000006Autosomal dominant inheritance0KLHL3 CL E G H262496354OMIM:614495Pseudohypoaldosteronism, type IID.118
HP:0000006HP:0000006Autosomal dominant inheritance0KLHL7 CL E G H5597515646OMIM:612943Retinitis pigmentosa 42.42
HP:0000006HP:0000006Autosomal dominant inheritance0KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome.91
HP:0000006HP:0000006Autosomal dominant inheritance0KMT2B CL E G H975715840OMIM:61993411
HP:0000006HP:0000006Autosomal dominant inheritance0KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onset.11
HP:0000006HP:0000006Autosomal dominant inheritance0KMT2C CL E G H5850813726OMIM:617768Kleefstra syndrome 2.99
HP:0000006HP:0000006Autosomal dominant inheritance0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1.660
HP:0000006HP:0000006Autosomal dominant inheritance0KMT2E CL E G H5590418541OMIM:618512O'donnell-Luria-Rodan syndrome1
HP:0000006HP:0000006Autosomal dominant inheritance0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 51.2
HP:0000006HP:0000006Autosomal dominant inheritance0KNG1 CL E G H38276383OMIM:619363ANGIOEDEMA, HEREDITARY, 6; HAE67
HP:0000006HP:0000006Autosomal dominant inheritance0KRAS CL E G H38456407OMIM:109800Bladder cancer.196
HP:0000006HP:0000006Autosomal dominant inheritance0KRAS CL E G H38456407OMIM:114480Breast cancer.196
HP:0000006HP:0000006Autosomal dominant inheritance0KRAS CL E G H38456407OMIM:615278Cardiofaciocutaneous syndrome 2196
HP:0000006HP:0000006Autosomal dominant inheritance0KRAS CL E G H38456407OMIM:601626Leukemia, acute myeloid.196
HP:0000006HP:0000006Autosomal dominant inheritance0KRAS CL E G H38456407OMIM:211980Lung cancer, susceptibility to.196
HP:0000006HP:0000006Autosomal dominant inheritance0KRAS CL E G H38456407OMIM:609942Noonan syndrome 3196
HP:0000006HP:0000006Autosomal dominant inheritance0KRAS CL E G H38456407OMIM:600268Oculoectodermal syndrome.196
HP:0000006HP:0000006Autosomal dominant inheritance0KRAS CL E G H38456407OMIM:260350Pancreatic cancer.196
HP:0000006HP:0000006Autosomal dominant inheritance0KRAS CL E G H38456407OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic.196
HP:0000006HP:0000006Autosomal dominant inheritance0KRIT1 CL E G H8891573OMIM:116860Cerebral cavernous malformations 1.92
HP:0000006HP:0000006Autosomal dominant inheritance0KRT1 CL E G H38486412OMIM:113800Epidermolytic hyperkeratosis.100
HP:0000006HP:0000006Autosomal dominant inheritance0KRT1 CL E G H38486412OMIM:146590Ichthyosis hystrix, Curth-Macklin type.100
HP:0000006HP:0000006Autosomal dominant inheritance0KRT1 CL E G H38486412OMIM:607654KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3100
HP:0000006HP:0000006Autosomal dominant inheritance0KRT1 CL E G H38486412OMIM:144200Palmoplantar keratoderma, epidermolytic100
HP:0000006HP:0000006Autosomal dominant inheritance0KRT1 CL E G H38486412OMIM:600962PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK100
HP:0000006HP:0000006Autosomal dominant inheritance0KRT10 CL E G H38586413OMIM:113800Epidermolytic hyperkeratosis.45
HP:0000006HP:0000006Autosomal dominant inheritance0KRT10 CL E G H38586413OMIM:609165Erythroderma, ichthyosiform, congenital reticular.45
HP:0000006HP:0000006Autosomal dominant inheritance0KRT10 CL E G H38586413OMIM:146600Ichthyosis hystrix gravior.45
HP:0000006HP:0000006Autosomal dominant inheritance0KRT10 CL E G H38586413OMIM:607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis.45
HP:0000006HP:0000006Autosomal dominant inheritance0KRT12 CL E G H38596414OMIM:122100Meesmann corneal dystrophy 122
HP:0000006HP:0000006Autosomal dominant inheritance0KRT13 CL E G H38606415OMIM:615785White sponge nevus 2.46
HP:0000006HP:0000006Autosomal dominant inheritance0KRT14 CL E G H38616416OMIM:125595Dermatopathia pigmentosa reticularis.110
HP:0000006HP:0000006Autosomal dominant inheritance0KRT14 CL E G H38616416OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type.110
HP:0000006HP:0000006Autosomal dominant inheritance0KRT14 CL E G H38616416OMIM:131900Epidermolysis bullosa simplex, Koebner type110
HP:0000006HP:0000006Autosomal dominant inheritance0KRT14 CL E G H38616416OMIM:131800Epidermolysis bullosa simplex, Weber-Cockayne type.110
HP:0000006HP:0000006Autosomal dominant inheritance0KRT14 CL E G H38616416OMIM:161000Naegeli syndrome.110
HP:0000006HP:0000006Autosomal dominant inheritance0KRT16 CL E G H38686423OMIM:167200Pachyonychia congenita, type 1.27
HP:0000006HP:0000006Autosomal dominant inheritance0KRT16 CL E G H38686423OMIM:613000Palmoplantar keratoderma, nonepidermolytic, focal 1.27
HP:0000006HP:0000006Autosomal dominant inheritance0KRT17 CL E G H38726427OMIM:167210Pachyonychia congenita 2.23
HP:0000006HP:0000006Autosomal dominant inheritance0KRT17 CL E G H38726427OMIM:184500Steatocystoma multiplex.23
HP:0000006HP:0000006Autosomal dominant inheritance0KRT2 CL E G H38496439OMIM:146800Ichthyosis, Bullous type.67
HP:0000006HP:0000006Autosomal dominant inheritance0KRT3 CL E G H38506440OMIM:618767CORNEAL DYSTROPHY, MEESMANN, 2; MECD23
HP:0000006HP:0000006Autosomal dominant inheritance0KRT4 CL E G H38516441OMIM:193900White sponge nevus 1.64
HP:0000006HP:0000006Autosomal dominant inheritance0KRT5 CL E G H38526442OMIM:179850Dowling-Degos disease.173
HP:0000006HP:0000006Autosomal dominant inheritance0KRT5 CL E G H38526442OMIM:619555EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE; EBS2A173
HP:0000006HP:0000006Autosomal dominant inheritance0KRT5 CL E G H38526442OMIM:619588EPIDERMOLYSIS BULLOSA SIMPLEX 2B, GENERALIZED INTERMEDIATE; EBS2B173
HP:0000006HP:0000006Autosomal dominant inheritance0KRT5 CL E G H38526442OMIM:619594EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C173
HP:0000006HP:0000006Autosomal dominant inheritance0KRT5 CL E G H38526442OMIM:609352EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA173
HP:0000006HP:0000006Autosomal dominant inheritance0KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation.173
HP:0000006HP:0000006Autosomal dominant inheritance0KRT5 CL E G H38526442OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type.173
HP:0000006HP:0000006Autosomal dominant inheritance0KRT6A CL E G H38536443OMIM:615726Pachyonychia congenita 341
HP:0000006HP:0000006Autosomal dominant inheritance0KRT6B CL E G H38546444OMIM:615728Pachyonychia congenita 4.4
HP:0000006HP:0000006Autosomal dominant inheritance0KRT6C CL E G H28688720406OMIM:615735Palmoplantar keratoderma, nonepidermolytic, focal or diffuse.4
HP:0000006HP:0000006Autosomal dominant inheritance0KRT71 CL E G H11280228927OMIM:615896Hypotrichosis 13.1
HP:0000006HP:0000006Autosomal dominant inheritance0KRT74 CL E G H12139128929OMIM:613981Hypotrichosis 3.5
HP:0000006HP:0000006Autosomal dominant inheritance0KRT74 CL E G H12139128929OMIM:194300Woolly hair, autosomal dominant.5
HP:0000006HP:0000006Autosomal dominant inheritance0KRT81 CL E G H38876458OMIM:158000MONILETHRIX.3
HP:0000006HP:0000006Autosomal dominant inheritance0KRT83 CL E G H38896460OMIM:158000MONILETHRIX.65
HP:0000006HP:0000006Autosomal dominant inheritance0KRT86 CL E G H38926463OMIM:158000MONILETHRIX.10
HP:0000006HP:0000006Autosomal dominant inheritance0KRT9 CL E G H38576447OMIM:144200Palmoplantar keratoderma, epidermolytic66
HP:0000006HP:0000006Autosomal dominant inheritance0LAMA4 CL E G H39106484OMIM:615235Cardiomyopathy, dilated, 1jj.279
HP:0000006HP:0000006Autosomal dominant inheritance0LAMB3 CL E G H39146490OMIM:104530Amelogenesis imperfecta, type IA.167
HP:0000006HP:0000006Autosomal dominant inheritance0LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0000006HP:0000006Autosomal dominant inheritance0LBR CL E G H39306518OMIM:613471Reynolds syndrome.70
HP:0000006HP:0000006Autosomal dominant inheritance0LDB3 CL E G H1115515710OMIM:601493Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction.286
HP:0000006HP:0000006Autosomal dominant inheritance0LDB3 CL E G H1115515710OMIM:609452Myopathy, myofibrillar, 4.286
HP:0000006HP:0000006Autosomal dominant inheritance0LDLR CL E G H39496547OMIM:143890Hypercholesterolemia, familial, 12157
HP:0000006HP:0000006Autosomal dominant inheritance0LEMD2 CL E G H22149621244OMIM:619322MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS1
HP:0000006HP:0000006Autosomal dominant inheritance0LEMD3 CL E G H2359228887OMIM:166700Buschke-Ollendorff syndrome.68
HP:0000006HP:0000006Autosomal dominant inheritance0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome.2
HP:0000006HP:0000006Autosomal dominant inheritance0LGI1 CL E G H92116572OMIM:600512EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL175
HP:0000006HP:0000006Autosomal dominant inheritance0LGR4 CL E G H5536613299OMIM:619613DELAYED PUBERTY, SELF-LIMITED; DPSL1
HP:0000006HP:0000006Autosomal dominant inheritance0LHX4 CL E G H8988421734OMIM:262700Pituitary hormone deficiency, combined, 443
HP:0000006HP:0000006Autosomal dominant inheritance0LIPC CL E G H39906619OMIM:125853Diabetes mellitus, noninsulin-dependent.35
HP:0000006HP:0000006Autosomal dominant inheritance0LITAF CL E G H951616841OMIM:601098Charcot-Marie-Tooth disease, demyelinating, type 1C.74
HP:0000006HP:0000006Autosomal dominant inheritance0LMAN2L CL E G H8156219263OMIM:6178631
HP:0000006HP:0000006Autosomal dominant inheritance0LMBR1 CL E G H6432713243OMIM:135750Laurin-Sandrow syndrome.106
HP:0000006HP:0000006Autosomal dominant inheritance0LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial II106
HP:0000006HP:0000006Autosomal dominant inheritance0LMBR1 CL E G H6432713243OMIM:186200Syndactyly, type IV106
HP:0000006HP:0000006Autosomal dominant inheritance0LMBR1 CL E G H6432713243OMIM:188740Tibia, hypoplasia or aplasia of, with polydactyly.106
HP:0000006HP:0000006Autosomal dominant inheritance0LMBRD2 CL E G H9225525287OMIM:619694DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000006HP:0000006Autosomal dominant inheritance0LMNA CL E G H40006636OMIM:115200Cardiomyopathy, dilated, 1A645
HP:0000006HP:0000006Autosomal dominant inheritance0LMNA CL E G H40006636OMIM:181350Emery-Dreifuss muscular dystrophy 2, autosomal dominant.645
HP:0000006HP:0000006Autosomal dominant inheritance0LMNA CL E G H40006636OMIM:610140Heart-hand syndrome, Slovenian type.645
HP:0000006HP:0000006Autosomal dominant inheritance0LMNA CL E G H40006636OMIM:176670Hutchinson-Gilford progeria syndrome.645
HP:0000006HP:0000006Autosomal dominant inheritance0LMNA CL E G H40006636OMIM:151660Lipodystrophy, familial partial, type 2.645
HP:0000006HP:0000006Autosomal dominant inheritance0LMNA CL E G H40006636OMIM:212112Malouf syndrome.645
HP:0000006HP:0000006Autosomal dominant inheritance0LMNA CL E G H40006636OMIM:613205Muscular dystrophy, congenital, lmna-related.645
HP:0000006HP:0000006Autosomal dominant inheritance0LMNA CL E G H40006636OMIM:619793RESTRICTIVE DERMOPATHY 2; RSDM2645
HP:0000006HP:0000006Autosomal dominant inheritance0LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant.44
HP:0000006HP:0000006Autosomal dominant inheritance0LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0000006HP:0000006Autosomal dominant inheritance0LMNB2 CL E G H848236638OMIM:608709Lipodystrophy, partial, acquired, susceptibility to.11
HP:0000006HP:0000006Autosomal dominant inheritance0LMNB2 CL E G H848236638OMIM:619180MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH2711
HP:0000006HP:0000006Autosomal dominant inheritance0LMX1A CL E G H40096653OMIM:601412Deafness, autosomal dominant nonsyndromic sensorineural 7.
HP:0000006HP:0000006Autosomal dominant inheritance0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome.165
HP:0000006HP:0000006Autosomal dominant inheritance0LOC111365204 CL E G H111365204OMIM:600790Chorioretinal atrophy, progressive bifocal.
HP:0000006HP:0000006Autosomal dominant inheritance0LOC111365204 CL E G H111365204OMIM:136550Macular dystrophy, retinal, 1, north Carolina type.
HP:0000006HP:0000006Autosomal dominant inheritance0LORICRIN CL E G H40146663OMIM:604117Vohwinkel syndrome, variant form.
HP:0000006HP:0000006Autosomal dominant inheritance0LOX CL E G H40156664OMIM:617168Aortic aneurysm, familial thoracic 10.6
HP:0000006HP:0000006Autosomal dominant inheritance0LOXL1 CL E G H40166665OMIM:177650Exfoliation syndrome.3
HP:0000006HP:0000006Autosomal dominant inheritance0LPL CL E G H40236677OMIM:144250Hyperlipidemia, familial combined, 3.106
HP:0000006HP:0000006Autosomal dominant inheritance0LPP CL E G H40266679OMIM:601626Leukemia, acute myeloid.1
HP:0000006HP:0000006Autosomal dominant inheritance0LRAT CL E G H92276685OMIM:268000Retinitis pigmentosa.62
HP:0000006HP:0000006Autosomal dominant inheritance0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0000006HP:0000006Autosomal dominant inheritance0LRP4 CL E G H40386696OMIM:614305Sclerosteosis 2.124
HP:0000006HP:0000006Autosomal dominant inheritance0LRP5 CL E G H40416697OMIM:133780Exudative vitreoretinopathy 1.125
HP:0000006HP:0000006Autosomal dominant inheritance0LRP5 CL E G H40416697OMIM:601813Exudative vitreoretinopathy 4.125
HP:0000006HP:0000006Autosomal dominant inheritance0LRP5 CL E G H40416697OMIM:144750Hyperostosis, endosteal.125
HP:0000006HP:0000006Autosomal dominant inheritance0LRP5 CL E G H40416697OMIM:607634Osteopetrosis, autosomal dominant 1125
HP:0000006HP:0000006Autosomal dominant inheritance0LRP5 CL E G H40416697OMIM:166710OSTEOPOROSIS.125
HP:0000006HP:0000006Autosomal dominant inheritance0LRP5 CL E G H40416697OMIM:617875Polycystic liver disease 4 with or without kidney cysts125
HP:0000006HP:0000006Autosomal dominant inheritance0LRP6 CL E G H40406698OMIM:610947Coronary artery disease, autosomal dominant 2.26
HP:0000006HP:0000006Autosomal dominant inheritance0LRP6 CL E G H40406698OMIM:616724Tooth agenesis, selective, 7.26
HP:0000006HP:0000006Autosomal dominant inheritance0LRRC8A CL E G H5626219027OMIM:613506Agammaglobulinemia 5, autosomal dominant.3
HP:0000006HP:0000006Autosomal dominant inheritance0LRRK2 CL E G H12089218618OMIM:607060Parkinson disease 8, autosomal dominant.221
HP:0000006HP:0000006Autosomal dominant inheritance0LRSAM1 CL E G H9067825135OMIM:614436Charcot-Marie-Tooth disease, axonal, type 2P.102
HP:0000006HP:0000006Autosomal dominant inheritance0LTBP3 CL E G H40546716OMIM:617809Geleophysic dysplasia 3.12
HP:0000006HP:0000006Autosomal dominant inheritance0LYZ CL E G H40696740OMIM:105200Amyloidosis, familial visceral.32
HP:0000006HP:0000006Autosomal dominant inheritance0LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0000006HP:0000006Autosomal dominant inheritance0LZTR1 CL E G H82166742OMIM:615670Schwannomatosis 2.43
HP:0000006HP:0000006Autosomal dominant inheritance0MAB21L2 CL E G H105866758OMIM:615877Microphthalmia/coloboma and skeletal dysplasia syndrome.5
HP:0000006HP:0000006Autosomal dominant inheritance0MACF1 CL E G H2349913664OMIM:618325Lissencephaly 9 with complex brainstem malformation.2
HP:0000006HP:0000006Autosomal dominant inheritance0MAD1L1 CL E G H83796762OMIM:176807Prostate cancer.5
HP:0000006HP:0000006Autosomal dominant inheritance0MAF CL E G H40946776OMIM:601088Ayme-Gripp syndrome21
HP:0000006HP:0000006Autosomal dominant inheritance0MAF CL E G H40946776OMIM:610202Cataract 21, multiple types.21
HP:0000006HP:0000006Autosomal dominant inheritance0MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus.
HP:0000006HP:0000006Autosomal dominant inheritance0MAFB CL E G H99356408OMIM:617041Duane retraction syndrome 3 with or without deafness.63
HP:0000006HP:0000006Autosomal dominant inheritance0MAFB CL E G H99356408OMIM:166300Multicentric carpotarsal osteolysis syndrome.63
HP:0000006HP:0000006Autosomal dominant inheritance0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome.63
HP:0000006HP:0000006Autosomal dominant inheritance0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome.63
HP:0000006HP:0000006Autosomal dominant inheritance0MAP1B CL E G H41316836OMIM:619808DEAFNESS, AUTOSOMAL DOMINANT 83; DFNA83
HP:0000006HP:0000006Autosomal dominant inheritance0MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000006HP:0000006Autosomal dominant inheritance0MAP2K1 CL E G H56046840OMIM:615279Cardiofaciocutaneous syndrome 3134
HP:0000006HP:0000006Autosomal dominant inheritance0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0000006HP:0000006Autosomal dominant inheritance0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0000006HP:0000006Autosomal dominant inheritance0MAP3K1 CL E G H42146848OMIM:61376246,xy sex reversal 6.13
HP:0000006HP:0000006Autosomal dominant inheritance0MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome.11
HP:0000006HP:0000006Autosomal dominant inheritance0MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 2.11
HP:0000006HP:0000006Autosomal dominant inheritance0MAP3K8 CL E G H13266860OMIM:211980Lung cancer, susceptibility to.
HP:0000006HP:0000006Autosomal dominant inheritance0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0000006HP:0000006Autosomal dominant inheritance0MAPK8IP1 CL E G H94796882OMIM:125853Diabetes mellitus, noninsulin-dependent.1
HP:0000006HP:0000006Autosomal dominant inheritance0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities.
HP:0000006HP:0000006Autosomal dominant inheritance0MAPKAPK3 CL E G H78676888OMIM:617111Macular dystrophy, patterned, 3.1
HP:0000006HP:0000006Autosomal dominant inheritance0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 2.4
HP:0000006HP:0000006Autosomal dominant inheritance0MAPT CL E G H41376893OMIM:600274Frontotemporal dementia.140
HP:0000006HP:0000006Autosomal dominant inheritance0MAPT CL E G H41376893OMIM:168600Parkinson disease, late-onset.140
HP:0000006HP:0000006Autosomal dominant inheritance0MAPT CL E G H41376893OMIM:172700Pick disease of brain.140
HP:0000006HP:0000006Autosomal dominant inheritance0MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1.140
HP:0000006HP:0000006Autosomal dominant inheritance0MARCHF6 CL E G H1029930550OMIM:613608Epilepsy, familial adult myoclonic, 3.
HP:0000006HP:0000006Autosomal dominant inheritance0MARS1 CL E G H41416898OMIM:616280Charcot-Marie-Tooth disease, axonal, type 2U.
HP:0000006HP:0000006Autosomal dominant inheritance0MAST1 CL E G H2298319034OMIM:618273Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations.1
HP:0000006HP:0000006Autosomal dominant inheritance0MAT1A CL E G H41436903OMIM:250850METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY.82
HP:0000006HP:0000006Autosomal dominant inheritance0MATN3 CL E G H41486909OMIM:607078Epiphyseal dysplasia, multiple, 532
HP:0000006HP:0000006Autosomal dominant inheritance0MATN3 CL E G H41486909OMIM:140600Osteoarthritis of distal interphalangeal joints.32
HP:0000006HP:0000006Autosomal dominant inheritance0MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 21.80
HP:0000006HP:0000006Autosomal dominant inheritance0MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA.84
HP:0000006HP:0000006Autosomal dominant inheritance0MBD4 CL E G H89306919OMIM:6199751
HP:0000006HP:0000006Autosomal dominant inheritance0MBD4 CL E G H89306919OMIM:606660MELANOMA, UVEAL, SUSCEPTIBILITY TO, 11
HP:0000006HP:0000006Autosomal dominant inheritance0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1.252
HP:0000006HP:0000006Autosomal dominant inheritance0MBL2 CL E G H41536922OMIM:614372Mannose-Binding lectin deficiency.54
HP:0000006HP:0000006Autosomal dominant inheritance0MC4R CL E G H41606932OMIM:618406BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ2054
HP:0000006HP:0000006Autosomal dominant inheritance0MCC CL E G H41636935OMIM:114500Colorectal cancer.6
HP:0000006HP:0000006Autosomal dominant inheritance0MCM2 CL E G H41716944OMIM:616968Deafness, autosomal dominant 701
HP:0000006HP:0000006Autosomal dominant inheritance0MCM6 CL E G H41756949OMIM:223100LACTOSE INTOLERANCE, ADULT TYPE5
HP:0000006HP:0000006Autosomal dominant inheritance0MDM4 CL E G H41946974OMIM:618849BONE MARROW FAILURE SYNDROME 6; BMFS61
HP:0000006HP:0000006Autosomal dominant inheritance0MECOM CL E G H21223498OMIM:616738RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT24
HP:0000006HP:0000006Autosomal dominant inheritance0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000006HP:0000006Autosomal dominant inheritance0MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0000006HP:0000006Autosomal dominant inheritance0MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects74
HP:0000006HP:0000006Autosomal dominant inheritance0MEF2A CL E G H42056993OMIM:608320Coronary artery disease, autosomal dominant, 1.5
HP:0000006HP:0000006Autosomal dominant inheritance0MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20.132
HP:0000006HP:0000006Autosomal dominant inheritance0MEFV CL E G H42106998OMIM:134610FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT281
HP:0000006HP:0000006Autosomal dominant inheritance0MEFV CL E G H42106998OMIM:608068NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE281
HP:0000006HP:0000006Autosomal dominant inheritance0MEIS2 CL E G H42127001OMIM:600987Cleft palate, cardiac defects, and mental retardation.7
HP:0000006HP:0000006Autosomal dominant inheritance0MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1.462
HP:0000006HP:0000006Autosomal dominant inheritance0MET CL E G H42337029OMIM:620019375
HP:0000006HP:0000006Autosomal dominant inheritance0MET CL E G H42337029OMIM:607278Osteofibrous dysplasia, susceptibility to.375
HP:0000006HP:0000006Autosomal dominant inheritance0MET CL E G H42337029OMIM:605074RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1375
HP:0000006HP:0000006Autosomal dominant inheritance0METTL13 CL E G H5160324248OMIM:605429DEAFNESS, AUTOSOMAL RECESSIVE 26, MODIFIER OF; DFNB26M
HP:0000006HP:0000006Autosomal dominant inheritance0MFAP5 CL E G H807629673OMIM:616166AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT911
HP:0000006HP:0000006Autosomal dominant inheritance0MFN2 CL E G H992716877OMIM:609260Charcot-marie-tooth disease, axonal, type 2A2A203
HP:0000006HP:0000006Autosomal dominant inheritance0MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI.203
HP:0000006HP:0000006Autosomal dominant inheritance0MIB1 CL E G H5753421086OMIM:615092Left ventricular noncompaction 7.28
HP:0000006HP:0000006Autosomal dominant inheritance0MICAL1 CL E G H6478020619OMIM:600512EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
HP:0000006HP:0000006Autosomal dominant inheritance0MINPP1 CL E G H95627102OMIM:188470Thyroid cancer, nonmedullary, 23
HP:0000006HP:0000006Autosomal dominant inheritance0MIP CL E G H42847103OMIM:615274Cataract 15, multiple types.40
HP:0000006HP:0000006Autosomal dominant inheritance0MIR140 CL E G H40693231527OMIM:618618SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0000006HP:0000006Autosomal dominant inheritance0MIR184 CL E G H40696031555OMIM:614303Edict syndrome.1
HP:0000006HP:0000006Autosomal dominant inheritance0MIR204 CL E G H40698731582OMIM:616722Retinal dystrophy and iris coloboma with or without congenital cataract.1
HP:0000006HP:0000006Autosomal dominant inheritance0MIR96 CL E G H40705331648OMIM:613074Deafness, autosomal dominant 504
HP:0000006HP:0000006Autosomal dominant inheritance0MITF CL E G H42867105OMIM:614456MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8; CMM891
HP:0000006HP:0000006Autosomal dominant inheritance0MITF CL E G H42867105OMIM:103500Tietz syndrome.91
HP:0000006HP:0000006Autosomal dominant inheritance0MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A.91
HP:0000006HP:0000006Autosomal dominant inheritance0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome.5
HP:0000006HP:0000006Autosomal dominant inheritance0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome.
HP:0000006HP:0000006Autosomal dominant inheritance0MLH1 CL E G H42927127OMIM:609310COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC21819
HP:0000006HP:0000006Autosomal dominant inheritance0MLH1 CL E G H42927127OMIM:158320Muir-Torre syndrome.1819
HP:0000006HP:0000006Autosomal dominant inheritance0MLH3 CL E G H270307128OMIM:114500Colorectal cancer.131
HP:0000006HP:0000006Autosomal dominant inheritance0MLH3 CL E G H270307128OMIM:614385Colorectal cancer, hereditary nonpolyposis, type 7.131
HP:0000006HP:0000006Autosomal dominant inheritance0MLH3 CL E G H270307128OMIM:608089Endometrial carcinoma, somatic.131
HP:0000006HP:0000006Autosomal dominant inheritance0MLLT10 CL E G H802816063OMIM:601626Leukemia, acute myeloid.
HP:0000006HP:0000006Autosomal dominant inheritance0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0000006HP:0000006Autosomal dominant inheritance0MME CL E G H43117154OMIM:617017Charcot-Marie-Tooth disease, axonal, type 2T.18
HP:0000006HP:0000006Autosomal dominant inheritance0MME CL E G H43117154OMIM:617018SPINOCEREBELLAR ATAXIA 43; SCA4318
HP:0000006HP:0000006Autosomal dominant inheritance0MMP13 CL E G H43227159OMIM:602111Spondyloepimetaphyseal dysplasia, Missouri type.52
HP:0000006HP:0000006Autosomal dominant inheritance0MMP19 CL E G H43277165OMIM:611543Cavitary optic disc anomalies.2
HP:0000006HP:0000006Autosomal dominant inheritance0MN1 CL E G H43307180OMIM:618774CEBALID SYNDROME; CEBALID1
HP:0000006HP:0000006Autosomal dominant inheritance0MN1 CL E G H43307180OMIM:607174Meningioma, familial, susceptibility to.1
HP:0000006HP:0000006Autosomal dominant inheritance0MNX1 CL E G H31104979OMIM:176450Currarino syndrome.17
HP:0000006HP:0000006Autosomal dominant inheritance0MOG CL E G H43407197OMIM:614250Narcolepsy 7.1
HP:0000006HP:0000006Autosomal dominant inheritance0MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z.8
HP:0000006HP:0000006Autosomal dominant inheritance0MORC2 CL E G H2288023573OMIM:619090DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN8
HP:0000006HP:0000006Autosomal dominant inheritance0MPEG1 CL E G H21997229619OMIM:619223IMMUNODEFICIENCY 77; IMD77
HP:0000006HP:0000006Autosomal dominant inheritance0MPL CL E G H43527217OMIM:601977THROMBOCYTHEMIA 2; THCYT297
HP:0000006HP:0000006Autosomal dominant inheritance0MPO CL E G H43537218OMIM:104300Alzheimer disease.11
HP:0000006HP:0000006Autosomal dominant inheritance0MPZ CL E G H43597225OMIM:607677Charcot-Marie-Tooth disease, axonal, type 2I.134
HP:0000006HP:0000006Autosomal dominant inheritance0MPZ CL E G H43597225OMIM:118200Charcot-Marie-Tooth disease, demyelinating, type 1B.134
HP:0000006HP:0000006Autosomal dominant inheritance0MPZ CL E G H43597225OMIM:607791Charcot-Marie-Tooth disease, dominant intermediate D.134
HP:0000006HP:0000006Autosomal dominant inheritance0MPZ CL E G H43597225OMIM:607736Charcot-Marie-Tooth disease, type 2J134
HP:0000006HP:0000006Autosomal dominant inheritance0MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas.134
HP:0000006HP:0000006Autosomal dominant inheritance0MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2.134
HP:0000006HP:0000006Autosomal dominant inheritance0MPZ CL E G H43597225OMIM:180800Roussy-Levy hereditary areflexic dystasia.134
HP:0000006HP:0000006Autosomal dominant inheritance0MRAP2 CL E G H11260921232OMIM:615457BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18; BMIQ181
HP:0000006HP:0000006Autosomal dominant inheritance0MRAS CL E G H228087227OMIM:618499NOONAN SYNDROME 11; NS11
HP:0000006HP:0000006Autosomal dominant inheritance0MS4A2 CL E G H22067316OMIM:147050Ige responsiveness, atopic.1
HP:0000006HP:0000006Autosomal dominant inheritance0MSH2 CL E G H44367325OMIM:120435Lynch syndrome I.2162
HP:0000006HP:0000006Autosomal dominant inheritance0MSH2 CL E G H44367325OMIM:158320Muir-Torre syndrome.2162
HP:0000006HP:0000006Autosomal dominant inheritance0MSH3 CL E G H44377326OMIM:608089Endometrial carcinoma, somatic.5
HP:0000006HP:0000006Autosomal dominant inheritance0MSH6 CL E G H29567329OMIM:614350Colorectal cancer, hereditary nonpolyposis, type 5.2232
HP:0000006HP:0000006Autosomal dominant inheritance0MSH6 CL E G H29567329OMIM:608089Endometrial carcinoma, somatic.2232
HP:0000006HP:0000006Autosomal dominant inheritance0MST1R CL E G H44867381OMIM:617075Nasopharyngeal carcinoma, susceptibility to, 3.2
HP:0000006HP:0000006Autosomal dominant inheritance0MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia.
HP:0000006HP:0000006Autosomal dominant inheritance0MSX1 CL E G H44877391OMIM:608874OROFACIAL CLEFT 5; OFC512
HP:0000006HP:0000006Autosomal dominant inheritance0MSX1 CL E G H44877391OMIM:106600Tooth agenesis, selective, 1.12
HP:0000006HP:0000006Autosomal dominant inheritance0MSX1 CL E G H44877391OMIM:189500Witkop syndrome.12
HP:0000006HP:0000006Autosomal dominant inheritance0MSX2 CL E G H44887392OMIM:604757Craniosynostosis 2.45
HP:0000006HP:0000006Autosomal dominant inheritance0MSX2 CL E G H44887392OMIM:168500Parietal foramina.45
HP:0000006HP:0000006Autosomal dominant inheritance0MSX2 CL E G H44887392OMIM:168550Parietal foramina with cleidocranial dysplasia45
HP:0000006HP:0000006Autosomal dominant inheritance0MTAP CL E G H45077413OMIM:112250Diaphyseal medullary stenosis with malignant fibrous histiocytoma.85
HP:0000006HP:0000006Autosomal dominant inheritance0MTHFR CL E G H45247436OMIM:181500SCHIZOPHRENIA.183
HP:0000006HP:0000006Autosomal dominant inheritance0MTHFR CL E G H45247436OMIM:188050Thrombophiliavenous thromboembolism, included.183
HP:0000006HP:0000006Autosomal dominant inheritance0MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0000006HP:0000006Autosomal dominant inheritance0MTNR1B CL E G H45447464OMIM:125853Diabetes mellitus, noninsulin-dependent.4
HP:0000006HP:0000006Autosomal dominant inheritance0MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome.68
HP:0000006HP:0000006Autosomal dominant inheritance0MTSS2 CL E G H9215425094OMIM:620086
HP:0000006HP:0000006Autosomal dominant inheritance0MTTP CL E G H45477467OMIM:605552Abdominal obesity-metabolic syndrome 1.81
HP:0000006HP:0000006Autosomal dominant inheritance0MUC1 CL E G H45827508OMIM:174000Tubulointerstitial kidney disease, autosomal dominant, 21
HP:0000006HP:0000006Autosomal dominant inheritance0MUC5B CL E G H7278977516OMIM:178500Pulmonary fibrosis, idiopathic133
HP:0000006HP:0000006Autosomal dominant inheritance0MUC7 CL E G H45897518OMIM:600807Asthma, susceptibility to.1
HP:0000006HP:0000006Autosomal dominant inheritance0MVD CL E G H45977529OMIM:614714POROKERATOSIS 7, MULTIPLE TYPES; POROK72
HP:0000006HP:0000006Autosomal dominant inheritance0MVK CL E G H45987530OMIM:175900Porokeratosis 3, multiple types.150
HP:0000006HP:0000006Autosomal dominant inheritance0MXI1 CL E G H46017534OMIM:176807Prostate cancer.4
HP:0000006HP:0000006Autosomal dominant inheritance0MYBPC1 CL E G H46047549OMIM:614335Arthrogryposis, distal, type 1B.66
HP:0000006HP:0000006Autosomal dominant inheritance0MYBPC1 CL E G H46047549OMIM:618524MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM66
HP:0000006HP:0000006Autosomal dominant inheritance0MYBPC3 CL E G H46077551OMIM:115197Cardiomyopathy, familial hypertrophic, 4.1143
HP:0000006HP:0000006Autosomal dominant inheritance0MYBPC3 CL E G H46077551OMIM:615396Left ventricular noncompaction 10.1143
HP:0000006HP:0000006Autosomal dominant inheritance0MYCN CL E G H46137559OMIM:164280Feingold syndrome 1.35
HP:0000006HP:0000006Autosomal dominant inheritance0MYH11 CL E G H46297569OMIM:132900Aortic aneurysm, familial thoracic 4418
HP:0000006HP:0000006Autosomal dominant inheritance0MYH11 CL E G H46297569OMIM:619350VISCERAL MYOPATHY 2; VSCM2418
HP:0000006HP:0000006Autosomal dominant inheritance0MYH14 CL E G H7978423212OMIM:600652Deafness, autosomal dominant nonsyndromic sensorineural 4.227
HP:0000006HP:0000006Autosomal dominant inheritance0MYH14 CL E G H7978423212OMIM:614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss.227
HP:0000006HP:0000006Autosomal dominant inheritance0MYH2 CL E G H46207572OMIM:605637Myopathy, proximal, and ophthalmoplegia.105
HP:0000006HP:0000006Autosomal dominant inheritance0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A166
HP:0000006HP:0000006Autosomal dominant inheritance0MYH3 CL E G H46217573OMIM:618436Arthrogryposis, distal, type 2B3.166
HP:0000006HP:0000006Autosomal dominant inheritance0MYH3 CL E G H46217573OMIM:178110Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A166
HP:0000006HP:0000006Autosomal dominant inheritance0MYH6 CL E G H46247576OMIM:614089ATRIAL SEPTAL DEFECT 3; ASD3452
HP:0000006HP:0000006Autosomal dominant inheritance0MYH6 CL E G H46247576OMIM:613252Cardiomyopathy, dilated, 1ee452
HP:0000006HP:0000006Autosomal dominant inheritance0MYH6 CL E G H46247576OMIM:192600Cardiomyopathy, familial hypertrophic 1.452
HP:0000006HP:0000006Autosomal dominant inheritance0MYH6 CL E G H46247576OMIM:613251Cardiomyopathy, familial hypertrophic, 14.452
HP:0000006HP:0000006Autosomal dominant inheritance0MYH7 CL E G H46257577OMIM:613426Cardiomyopathy, dilated, 1S.1269
HP:0000006HP:0000006Autosomal dominant inheritance0MYH7 CL E G H46257577OMIM:192600Cardiomyopathy, familial hypertrophic 1.1269
HP:0000006HP:0000006Autosomal dominant inheritance0MYH7 CL E G H46257577OMIM:255310Myopathy, congenital, with fiber-type disproportion.1269
HP:0000006HP:0000006Autosomal dominant inheritance0MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 1.1269
HP:0000006HP:0000006Autosomal dominant inheritance0MYH7 CL E G H46257577OMIM:608358Myopathy, myosin storage.1269
HP:0000006HP:0000006Autosomal dominant inheritance0MYH7 CL E G H46257577OMIM:181430Scapuloperoneal myopathy, myh7-related.1269
HP:0000006HP:0000006Autosomal dominant inheritance0MYH8 CL E G H46267578OMIM:158300Arthrogryposis, distal, type 7.93
HP:0000006HP:0000006Autosomal dominant inheritance0MYH8 CL E G H46267578OMIM:608837CARNEY COMPLEX VARIANT93
HP:0000006HP:0000006Autosomal dominant inheritance0MYH9 CL E G H46277579OMIM:603622Deafness, autosomal dominant nonsyndromic sensorineural 17.297
HP:0000006HP:0000006Autosomal dominant inheritance0MYH9 CL E G H46277579OMIM:155100Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss.297
HP:0000006HP:0000006Autosomal dominant inheritance0MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0000006HP:0000006Autosomal dominant inheritance0MYL2 CL E G H46337583OMIM:608758Cardiomyopathy, familial hypertrophic, 10131
HP:0000006HP:0000006Autosomal dominant inheritance0MYL3 CL E G H46347584OMIM:608751Cardiomyopathy, familial hypertrophic, 8.95
HP:0000006HP:0000006Autosomal dominant inheritance0MYL4 CL E G H46357585OMIM:617280Atrial fibrillation, familial, 18.2
HP:0000006HP:0000006Autosomal dominant inheritance0MYLK CL E G H46387590OMIM:613780AORTIC ANEURYSM, FAMILIAL THORACIC 7; AAT7326
HP:0000006HP:0000006Autosomal dominant inheritance0MYLK2 CL E G H8536616243OMIM:192600Cardiomyopathy, familial hypertrophic 1.124
HP:0000006HP:0000006Autosomal dominant inheritance0MYO6 CL E G H46467605OMIM:606346Deafness, autosomal dominant 22.179
HP:0000006HP:0000006Autosomal dominant inheritance0MYO7A CL E G H46477606OMIM:601317Deafness, autosomal dominant nonsyndromic sensorineural 11.516
HP:0000006HP:0000006Autosomal dominant inheritance0MYOC CL E G H46537610OMIM:137750Glaucoma 1, open angle, A.47
HP:0000006HP:0000006Autosomal dominant inheritance0MYOCD CL E G H9364916067OMIM:618719MEGABLADDER, CONGENITAL; MGBL3
HP:0000006HP:0000006Autosomal dominant inheritance0MYOF CL E G H265093656OMIM:619366ANGIOEDEMA, HEREDITARY, 7; HAE7
HP:0000006HP:0000006Autosomal dominant inheritance0MYOT CL E G H949912399OMIM:182920Myopathy, spheroid body.75
HP:0000006HP:0000006Autosomal dominant inheritance0MYOT CL E G H949912399OMIM:609200MYOTILINOPATHY.75
HP:0000006HP:0000006Autosomal dominant inheritance0MYOZ2 CL E G H517781330OMIM:613838Cardiomyopathy, familial hypertrophic, 16.81
HP:0000006HP:0000006Autosomal dominant inheritance0MYPN CL E G H8466523246OMIM:615248Cardiomyopathy, dilated, 1kk.217
HP:0000006HP:0000006Autosomal dominant inheritance0MYRF CL E G H7451181OMIM:618280Cardiac-Urogenital syndrome.2
HP:0000006HP:0000006Autosomal dominant inheritance0MYRF CL E G H7451181OMIM:618113Encephalitis/encephalopathy, MILD, with reversible myelin vacuolization.2
HP:0000006HP:0000006Autosomal dominant inheritance0MYT1L CL E G H230407623OMIM:616521Mental retardation, autosomal dominant 39.13
HP:0000006HP:0000006Autosomal dominant inheritance0NAA15 CL E G H8015530782OMIM:617787MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD501
HP:0000006HP:0000006Autosomal dominant inheritance0NACC1 CL E G H11293920967OMIM:617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination.1
HP:0000006HP:0000006Autosomal dominant inheritance0NAGLU CL E G H46697632OMIM:616491Charcot-Marie-Tooth disease, axonal, type 2V.72
HP:0000006HP:0000006Autosomal dominant inheritance0NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay.48
HP:0000006HP:0000006Autosomal dominant inheritance0NANOS1 CL E G H34071923044OMIM:615413SPERMATOGENIC FAILURE 12; SPGF124
HP:0000006HP:0000006Autosomal dominant inheritance0NARS1 CL E G H46777643OMIM:619092NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000006HP:0000006Autosomal dominant inheritance0NBEA CL E G H269607648OMIM:619157NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE3
HP:0000006HP:0000006Autosomal dominant inheritance0NCDN CL E G H2315417597OMIM:619373NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0000006HP:0000006Autosomal dominant inheritance0NCSTN CL E G H2338517091OMIM:142690Acne inversa, familial.5
HP:0000006HP:0000006Autosomal dominant inheritance0NDNF CL E G H7962526256OMIM:618841HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0000006HP:0000006Autosomal dominant inheritance0NEDD4L CL E G H233277728OMIM:617201Periventricular nodular heterotopia 7.30
HP:0000006HP:0000006Autosomal dominant inheritance0NEFH CL E G H47447737OMIM:105400Amyotrophic lateral sclerosis 124
HP:0000006HP:0000006Autosomal dominant inheritance0NEFH CL E G H47447737OMIM:616924Charcot-Marie-Tooth disease, axonal, type 2CC24
HP:0000006HP:0000006Autosomal dominant inheritance0NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E.118
HP:0000006HP:0000006Autosomal dominant inheritance0NEFL CL E G H47477739OMIM:607734Charcot-Marie-Tooth disease, demyelinating, type 1F.118
HP:0000006HP:0000006Autosomal dominant inheritance0NEFL CL E G H47477739OMIM:617882Charcot-Marie-Tooth disease, dominant intermediate G.118
HP:0000006HP:0000006Autosomal dominant inheritance0NEK1 CL E G H47507744OMIM:617892Amyotrophic lateral sclerosis, susceptibility to, 24.101
HP:0000006HP:0000006Autosomal dominant inheritance0NEUROD1 CL E G H47607762OMIM:125853Diabetes mellitus, noninsulin-dependent.32
HP:0000006HP:0000006Autosomal dominant inheritance0NEUROD1 CL E G H47607762OMIM:606394MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; MODY632
HP:0000006HP:0000006Autosomal dominant inheritance0NEUROD2 CL E G H47617763OMIM:618374Epileptic encephalopathy, early infantile, 72.
HP:0000006HP:0000006Autosomal dominant inheritance0NEXN CL E G H9162429557OMIM:613122Cardiomyopathy, dilated, 1cc.167
HP:0000006HP:0000006Autosomal dominant inheritance0NEXN CL E G H9162429557OMIM:613876Cardiomyopathy, familial hypertrophic, 20.167
HP:0000006HP:0000006Autosomal dominant inheritance0NF1 CL E G H47637765OMIM:607785Juvenile myelomonocytic leukemia.1952
HP:0000006HP:0000006Autosomal dominant inheritance0NF1 CL E G H47637765OMIM:162210Neurofibromatosis, familial spinal.1952
HP:0000006HP:0000006Autosomal dominant inheritance0NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0000006HP:0000006Autosomal dominant inheritance0NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0000006HP:0000006Autosomal dominant inheritance0NF1 CL E G H47637765OMIM:193520Watson syndrome.1952
HP:0000006HP:0000006Autosomal dominant inheritance0NF2 CL E G H47717773OMIM:607174Meningioma, familial, susceptibility to.220
HP:0000006HP:0000006Autosomal dominant inheritance0NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II.220
HP:0000006HP:0000006Autosomal dominant inheritance0NF2 CL E G H47717773OMIM:162091SCHWANNOMATOSIS.220
HP:0000006HP:0000006Autosomal dominant inheritance0NFE2L2 CL E G H47807782OMIM:617744Immunodeficiency, developmental delay, and hypohomocysteinemia.20
HP:0000006HP:0000006Autosomal dominant inheritance0NFIA CL E G H47747784OMIM:613735Brain malformations with or without urinary tract defects.12
HP:0000006HP:0000006Autosomal dominant inheritance0NFIB CL E G H47817785OMIM:618286Macrocephaly, acquired, with impaired intellectual development.1
HP:0000006HP:0000006Autosomal dominant inheritance0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0000006HP:0000006Autosomal dominant inheritance0NFIX CL E G H47847788OMIM:614753Sotos syndrome 2.40
HP:0000006HP:0000006Autosomal dominant inheritance0NFKB1 CL E G H47907794OMIM:616576IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID127
HP:0000006HP:0000006Autosomal dominant inheritance0NFKB2 CL E G H47917795OMIM:615577Immunodeficiency, common variable, 1011
HP:0000006HP:0000006Autosomal dominant inheritance0NFKBIA CL E G H47927797OMIM:612132ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT.27
HP:0000006HP:0000006Autosomal dominant inheritance0NHERF1 CL E G H936811075OMIM:612287Nephrolithiasis/osteoporosis, hypophosphatemic, 2.
HP:0000006HP:0000006Autosomal dominant inheritance0NIPA1 CL E G H12360617043OMIM:600363Spastic paraplegia 6, autosomal dominant.117
HP:0000006HP:0000006Autosomal dominant inheritance0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0000006HP:0000006Autosomal dominant inheritance0NKX2-1 CL E G H708011825OMIM:118700Chorea, benign hereditary.51
HP:0000006HP:0000006Autosomal dominant inheritance0NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0000006HP:0000006Autosomal dominant inheritance0NKX2-1 CL E G H708011825OMIM:188550Thyroid cancer, nonmedullary, 1.51
HP:0000006HP:0000006Autosomal dominant inheritance0NKX2-5 CL E G H14822488OMIM:108900Atrial septal defect with atrioventricular conduction defects.90
HP:0000006HP:0000006Autosomal dominant inheritance0NKX2-5 CL E G H14822488OMIM:614435Hypoplastic left heart syndrome 2.90
HP:0000006HP:0000006Autosomal dominant inheritance0NKX2-5 CL E G H14822488OMIM:225250Hypothyroidism, congenital, nongoitrous, 5.90
HP:0000006HP:0000006Autosomal dominant inheritance0NKX2-5 CL E G H14822488OMIM:187500Tetralogy of Fallot.90
HP:0000006HP:0000006Autosomal dominant inheritance0NKX2-5 CL E G H14822488OMIM:614432Ventricular septal defect 3.90
HP:0000006HP:0000006Autosomal dominant inheritance0NLGN1 CL E G H2287114291OMIM:618830Autism, susceptibility to, 20.4
HP:0000006HP:0000006Autosomal dominant inheritance0NLRC4 CL E G H5848416412OMIM:616050AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC30
HP:0000006HP:0000006Autosomal dominant inheritance0NLRC4 CL E G H5848416412OMIM:616115FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS430
HP:0000006HP:0000006Autosomal dominant inheritance0NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0000006HP:0000006Autosomal dominant inheritance0NLRP1 CL E G H2286114374OMIM:615225Palmoplantar carcinoma, multiple self-healing.37
HP:0000006HP:0000006Autosomal dominant inheritance0NLRP12 CL E G H9166222938OMIM:611762Familial cold autoinflammatory syndrome 299
HP:0000006HP:0000006Autosomal dominant inheritance0NLRP3 CL E G H11454816400OMIM:607115CINCA SYNDROME; CINCA217
HP:0000006HP:0000006Autosomal dominant inheritance0NLRP3 CL E G H11454816400OMIM:617772Deafness, autosomal dominant 34, with or without inflammation.217
HP:0000006HP:0000006Autosomal dominant inheritance0NLRP3 CL E G H11454816400OMIM:120100FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1217
HP:0000006HP:0000006Autosomal dominant inheritance0NLRP3 CL E G H11454816400OMIM:148200Keratoendotheliitis fugax hereditaria.217
HP:0000006HP:0000006Autosomal dominant inheritance0NLRP3 CL E G H11454816400OMIM:191900Muckle-Wells syndrome217
HP:0000006HP:0000006Autosomal dominant inheritance0NOBOX CL E G H13593522448OMIM:611548Premature ovarian failure 5.40
HP:0000006HP:0000006Autosomal dominant inheritance0NOD2 CL E G H641275331OMIM:186580Blau syndrome.187
HP:0000006HP:0000006Autosomal dominant inheritance0NODAL CL E G H48387865OMIM:270100Heterotaxy, visceral, 545
HP:0000006HP:0000006Autosomal dominant inheritance0NOG CL E G H92417866OMIM:611377Brachydactyly, type B222
HP:0000006HP:0000006Autosomal dominant inheritance0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 1.22
HP:0000006HP:0000006Autosomal dominant inheritance0NOG CL E G H92417866OMIM:184460Stapes ankylosis with broad thumb and toes22
HP:0000006HP:0000006Autosomal dominant inheritance0NOG CL E G H92417866OMIM:185800Symphalangism, proximal, 1A22
HP:0000006HP:0000006Autosomal dominant inheritance0NOG CL E G H92417866OMIM:186570Tarsal-Carpal coalition syndrome22
HP:0000006HP:0000006Autosomal dominant inheritance0NOL3 CL E G H89967869OMIM:614937Myoclonus, familial cortical.1
HP:0000006HP:0000006Autosomal dominant inheritance0NOP56 CL E G H1052815911OMIM:614153Spinocerebellar ataxia 369
HP:0000006HP:0000006Autosomal dominant inheritance0NOS3 CL E G H48467876OMIM:104300Alzheimer disease.8
HP:0000006HP:0000006Autosomal dominant inheritance0NOS3 CL E G H48467876OMIM:189800Preeclampsia/eclampsia 1.8
HP:0000006HP:0000006Autosomal dominant inheritance0NOTCH1 CL E G H48517881OMIM:616028Adams-Oliver syndrome 5.452
HP:0000006HP:0000006Autosomal dominant inheritance0NOTCH1 CL E G H48517881OMIM:109730Aortic valve disease 1.452
HP:0000006HP:0000006Autosomal dominant inheritance0NOTCH2 CL E G H48537882OMIM:610205Alagille syndrome 2.138
HP:0000006HP:0000006Autosomal dominant inheritance0NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome.138
HP:0000006HP:0000006Autosomal dominant inheritance0NOTCH2NLC CL E G H10099671753924OMIM:603472NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0000006HP:0000006Autosomal dominant inheritance0NOTCH2NLC CL E G H10099671753924OMIM:619473OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000006HP:0000006Autosomal dominant inheritance0NOTCH2NLC CL E G H10099671753924OMIM:618866TREMOR, HEREDITARY ESSENTIAL, 6; ETM6
HP:0000006HP:0000006Autosomal dominant inheritance0NOTCH3 CL E G H48547883OMIM:125310Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy.144
HP:0000006HP:0000006Autosomal dominant inheritance0NOTCH3 CL E G H48547883OMIM:130720Lateral meningocele syndrome.144
HP:0000006HP:0000006Autosomal dominant inheritance0NOTCH3 CL E G H48547883OMIM:615293MYOFIBROMATOSIS, INFANTILE, 2; IMF2144
HP:0000006HP:0000006Autosomal dominant inheritance0NOVA2 CL E G H48587887OMIM:618859Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0000006HP:0000006Autosomal dominant inheritance0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome.1
HP:0000006HP:0000006Autosomal dominant inheritance0NPM1 CL E G H48697910OMIM:601626Leukemia, acute myeloid.12
HP:0000006HP:0000006Autosomal dominant inheritance0NPPA CL E G H48787939OMIM:612201Atrial fibrillation, familial, 6.13
HP:0000006HP:0000006Autosomal dominant inheritance0NPR2 CL E G H48827944OMIM:615923Epiphyseal chondrodysplasia, Miura type.53
HP:0000006HP:0000006Autosomal dominant inheritance0NPR2 CL E G H48827944OMIM:616255Short stature with nonspecific skeletal abnormalities.53
HP:0000006HP:0000006Autosomal dominant inheritance0NPRL2 CL E G H1064124969OMIM:617116Epilepsy, familial focal, with variable foci 2.4
HP:0000006HP:0000006Autosomal dominant inheritance0NPRL3 CL E G H813114124OMIM:617118Epilepsy, familial focal, with variable foci 3.7
HP:0000006HP:0000006Autosomal dominant inheritance0NQO2 CL E G H48357856OMIM:114480Breast cancer.
HP:0000006HP:0000006Autosomal dominant inheritance0NR0B2 CL E G H84317961OMIM:601665OBESITY.4
HP:0000006HP:0000006Autosomal dominant inheritance0NR2E3 CL E G H100027974OMIM:611131Retinitis pigmentosa 37.58
HP:0000006HP:0000006Autosomal dominant inheritance0NR2F1 CL E G H70257975OMIM:615722Bosch-Boonstra-Schaaf optic atrophy syndrome.37
HP:0000006HP:0000006Autosomal dominant inheritance0NR2F2 CL E G H70267976OMIM:61890146,XX SEX REVERSAL 5; SRXX513
HP:0000006HP:0000006Autosomal dominant inheritance0NR2F2 CL E G H70267976OMIM:615779Congenital heart defects, multiple types, 4.13
HP:0000006HP:0000006Autosomal dominant inheritance0NR3C1 CL E G H29087978OMIM:615962Glucocorticoid resistance, generalized.79
HP:0000006HP:0000006Autosomal dominant inheritance0NR3C2 CL E G H43067979OMIM:605115Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy.109
HP:0000006HP:0000006Autosomal dominant inheritance0NR3C2 CL E G H43067979OMIM:177735Pseudohypoaldosteronism, type I, autosomal dominant.109
HP:0000006HP:0000006Autosomal dominant inheritance0NR4A2 CL E G H49297981OMIM:61991127
HP:0000006HP:0000006Autosomal dominant inheritance0NR4A2 CL E G H49297981OMIM:168600Parkinson disease, late-onset.27
HP:0000006HP:0000006Autosomal dominant inheritance0NR5A1 CL E G H25167983OMIM:61748046,xx sex reversal 4.38
HP:0000006HP:0000006Autosomal dominant inheritance0NR5A1 CL E G H25167983OMIM:613957Spermatogenic failure 8.38
HP:0000006HP:0000006Autosomal dominant inheritance0NRAS CL E G H48937989OMIM:114500Colorectal cancer.102
HP:0000006HP:0000006Autosomal dominant inheritance0NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0000006HP:0000006Autosomal dominant inheritance0NRAS CL E G H48937989OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic.102
HP:0000006HP:0000006Autosomal dominant inheritance0NRAS CL E G H48937989OMIM:188470Thyroid cancer, nonmedullary, 2102
HP:0000006HP:0000006Autosomal dominant inheritance0NRIP1 CL E G H82048001OMIM:618270Congenital anomalies of kidney and urinary tract 3.1
HP:0000006HP:0000006Autosomal dominant inheritance0NRL CL E G H49018002OMIM:613750Retinitis pigmentosa 27.30
HP:0000006HP:0000006Autosomal dominant inheritance0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0000006HP:0000006Autosomal dominant inheritance0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0000006HP:0000006Autosomal dominant inheritance0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome.118
HP:0000006HP:0000006Autosomal dominant inheritance0NSF CL E G H49058016OMIM:619340DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0000006HP:0000006Autosomal dominant inheritance0NSMF CL E G H2601229843OMIM:614838Hypogonadotropic hypogonadism 9 with or without anosmia.6
HP:0000006HP:0000006Autosomal dominant inheritance0NTN1 CL E G H94238029OMIM:618264MIRROR MOVEMENTS 4; MRMV4
HP:0000006HP:0000006Autosomal dominant inheritance0NTRK2 CL E G H49158032OMIM:617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE588
HP:0000006HP:0000006Autosomal dominant inheritance0NTRK2 CL E G H49158032OMIM:613886Obesity, hyperphagia, and developmental delay.8
HP:0000006HP:0000006Autosomal dominant inheritance0NUDT15 CL E G H5527023063OMIM:616903THIOPURINES, POOR METABOLISM OF, 2; THPM24
HP:0000006HP:0000006Autosomal dominant inheritance0NUP214 CL E G H80218064OMIM:601626Leukemia, acute myeloid.1
HP:0000006HP:0000006Autosomal dominant inheritance0NUS1 CL E G H11615021042OMIM:617831MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD551
HP:0000006HP:0000006Autosomal dominant inheritance0NUTM2B-AS1 CL E G H10106069151204OMIM:618637OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0000006HP:0000006Autosomal dominant inheritance0OAS1 CL E G H49388086OMIM:618042Pulmonary alveolar proteinosis with hypogammaglobulinemia.2
HP:0000006HP:0000006Autosomal dominant inheritance0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0000006HP:0000006Autosomal dominant inheritance0OPA1 CL E G H49768140OMIM:165500Optic atrophy 1.214
HP:0000006HP:0000006Autosomal dominant inheritance0OPA1 CL E G H49768140OMIM:125250Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy.214
HP:0000006HP:0000006Autosomal dominant inheritance0OPA3 CL E G H802078142OMIM:165300OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3163
HP:0000006HP:0000006Autosomal dominant inheritance0OPCML CL E G H49788143OMIM:167000Ovarian cancer.5
HP:0000006HP:0000006Autosomal dominant inheritance0OPLAH CL E G H268738149OMIM:2600055-@oxoprolinase deficiency.5
HP:0000006HP:0000006Autosomal dominant inheritance0OPN1SW CL E G H6111012OMIM:190900TRITANOPIA.3
HP:0000006HP:0000006Autosomal dominant inheritance0OPTN CL E G H1013317142OMIM:613435Amyotrophic lateral sclerosis 1262
HP:0000006HP:0000006Autosomal dominant inheritance0OPTN CL E G H1013317142OMIM:137760Glaucoma, primary open angle.62
HP:0000006HP:0000006Autosomal dominant inheritance0ORAI1 CL E G H8487625896OMIM:615883Myopathy, tubular aggregate, 2.19
HP:0000006HP:0000006Autosomal dominant inheritance0OSBPL2 CL E G H988515761OMIM:616340DEAFNESS, AUTOSOMAL DOMINANT 67; DFNA672
HP:0000006HP:0000006Autosomal dominant inheritance0OSMR CL E G H91808507OMIM:105250Amyloidosis, primary localized cutaneous, 1.5
HP:0000006HP:0000006Autosomal dominant inheritance0OTULIN CL E G H9026825118OMIM:6199863
HP:0000006HP:0000006Autosomal dominant inheritance0OTX2 CL E G H50158522OMIM:610125Microphthalmia, syndromic 5.41
HP:0000006HP:0000006Autosomal dominant inheritance0OTX2 CL E G H50158522OMIM:613986Pituitary hormone deficiency, combined, 6.41
HP:0000006HP:0000006Autosomal dominant inheritance0OVOL2 CL E G H5849515804OMIM:122000Corneal dystrophy, posterior polymorphous, 14
HP:0000006HP:0000006Autosomal dominant inheritance0P2RX2 CL E G H2295315459OMIM:608224Deafness, autosomal dominant 41.23
HP:0000006HP:0000006Autosomal dominant inheritance0P4HA2 CL E G H89748547OMIM:617238Myopia 25, autosomal dominant.3
HP:0000006HP:0000006Autosomal dominant inheritance0P4HB CL E G H50348548OMIM:112240Cole-Carpenter syndrome 1.2
HP:0000006HP:0000006Autosomal dominant inheritance0PABPN1 CL E G H81068565OMIM:164300Oculopharyngeal muscular dystrophy.10
HP:0000006HP:0000006Autosomal dominant inheritance0PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome24
HP:0000006HP:0000006Autosomal dominant inheritance0PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66.
HP:0000006HP:0000006Autosomal dominant inheritance0PAFAH1B1 CL E G H50488574OMIM:607432Lissencephaly 1.231
HP:0000006HP:0000006Autosomal dominant inheritance0PAK1 CL E G H50588590OMIM:618158Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0000006HP:0000006Autosomal dominant inheritance0PAK2 CL E G H50628591OMIM:618458
HP:0000006HP:0000006Autosomal dominant inheritance0PALB2 CL E G H7972826144OMIM:114480Breast cancer.1349
HP:0000006HP:0000006Autosomal dominant inheritance0PALLD CL E G H2302217068OMIM:606856PANCREATIC CANCER, SUSCEPTIBILITY TO, 1192
HP:0000006HP:0000006Autosomal dominant inheritance0PANK4 CL E G H5522919366OMIM:619593CATARACT 49; CTRCT49
HP:0000006HP:0000006Autosomal dominant inheritance0PANX1 CL E G H241458599OMIM:618550OOCYTE MATURATION DEFECT 7; OOMD71
HP:0000006HP:0000006Autosomal dominant inheritance0PARN CL E G H50738609OMIM:616371PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT426
HP:0000006HP:0000006Autosomal dominant inheritance0PAX2 CL E G H50768616OMIM:616002Focal segmental glomerulosclerosis 7.39
HP:0000006HP:0000006Autosomal dominant inheritance0PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome.39
HP:0000006HP:0000006Autosomal dominant inheritance0PAX3 CL E G H50778617OMIM:122880Craniofacial-Deafness-Hand syndrome.59
HP:0000006HP:0000006Autosomal dominant inheritance0PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 1.59
HP:0000006HP:0000006Autosomal dominant inheritance0PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 359
HP:0000006HP:0000006Autosomal dominant inheritance0PAX4 CL E G H50788618OMIM:612227Diabetes mellitus, ketosis-prone.55
HP:0000006HP:0000006Autosomal dominant inheritance0PAX4 CL E G H50788618OMIM:125853Diabetes mellitus, noninsulin-dependent.55
HP:0000006HP:0000006Autosomal dominant inheritance0PAX4 CL E G H50788618OMIM:612225MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9; MODY955
HP:0000006HP:0000006Autosomal dominant inheritance0PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0000006HP:0000006Autosomal dominant inheritance0PAX6 CL E G H50808620OMIM:604229Anterior segment dysgenesis 5, multiple subtypes194
HP:0000006HP:0000006Autosomal dominant inheritance0PAX6 CL E G H50808620OMIM:120430Coloboma of optic nerveoptic nerve head pits, bilateral congenital, included.194
HP:0000006HP:0000006Autosomal dominant inheritance0PAX6 CL E G H50808620OMIM:120200COLOBOMA, OCULAR, AUTOSOMAL DOMINANT194
HP:0000006HP:0000006Autosomal dominant inheritance0PAX6 CL E G H50808620OMIM:136520Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included.194
HP:0000006HP:0000006Autosomal dominant inheritance0PAX6 CL E G H50808620OMIM:148190Keratitis, hereditary.194
HP:0000006HP:0000006Autosomal dominant inheritance0PAX6 CL E G H50808620OMIM:165550OPTIC NERVE HYPOPLASIA, BILATERAL194
HP:0000006HP:0000006Autosomal dominant inheritance0PAX6 CL E G H50808620OMIM:194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome.194
HP:0000006HP:0000006Autosomal dominant inheritance0PAX8 CL E G H78498622OMIM:218700Hypothyroidism, congenital, nongoitrous, 2.63
HP:0000006HP:0000006Autosomal dominant inheritance0PAX9 CL E G H50838623OMIM:604625Tooth agenesis, selective, 3.58
HP:0000006HP:0000006Autosomal dominant inheritance0PBX1 CL E G H50878632OMIM:617641Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay.3
HP:0000006HP:0000006Autosomal dominant inheritance0PCDHGC4 CL E G H560988717OMIM:619880
HP:0000006HP:0000006Autosomal dominant inheritance0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0000006HP:0000006Autosomal dominant inheritance0PCSK9 CL E G H25573820001OMIM:603776HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3178
HP:0000006HP:0000006Autosomal dominant inheritance0PDCD10 CL E G H112358761OMIM:603285Cerebral cavernous malformations 3.21
HP:0000006HP:0000006Autosomal dominant inheritance0PDE10A CL E G H108468772OMIM:616922Striatal degeneration, autosomal dominant 25
HP:0000006HP:0000006Autosomal dominant inheritance0PDE11A CL E G H509408773OMIM:610475Pigmented nodular adrenocortical disease, primary, 2.13
HP:0000006HP:0000006Autosomal dominant inheritance0PDE1C CL E G H51378776OMIM:618140Deafness, autosomal dominant 74.3
HP:0000006HP:0000006Autosomal dominant inheritance0PDE3A CL E G H51398778OMIM:112410Hypertension and brachydactyly syndrome.9
HP:0000006HP:0000006Autosomal dominant inheritance0PDE4D CL E G H51448783OMIM:614613Acrodysostosis 2 with or without hormone resistance.113
HP:0000006HP:0000006Autosomal dominant inheritance0PDE6B CL E G H51588786OMIM:163500Night blindness, congenital stationary, autosomal dominant 2.126
HP:0000006HP:0000006Autosomal dominant inheritance0PDE6G CL E G H51488789OMIM:268000Retinitis pigmentosa.18
HP:0000006HP:0000006Autosomal dominant inheritance0PDE6H CL E G H51498790OMIM:610024Retinal cone dystrophy 3A.14
HP:0000006HP:0000006Autosomal dominant inheritance0PDE8B CL E G H86228794OMIM:614190Pigmented nodular adrenocortical disease, primary, 3.75
HP:0000006HP:0000006Autosomal dominant inheritance0PDE8B CL E G H86228794OMIM:609161Striatal degeneration, autosomal dominant.75
HP:0000006HP:0000006Autosomal dominant inheritance0PDGFB CL E G H51558800OMIM:213600Basal ganglia calcification, idiopathic, 1.9
HP:0000006HP:0000006Autosomal dominant inheritance0PDGFB CL E G H51558800OMIM:615483Basal ganglia calcification, idiopathic, 5.9
HP:0000006HP:0000006Autosomal dominant inheritance0PDGFB CL E G H51558800OMIM:607174Meningioma, familial, susceptibility to.9
HP:0000006HP:0000006Autosomal dominant inheritance0PDGFRA CL E G H51568803OMIM:175510Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial337
HP:0000006HP:0000006Autosomal dominant inheritance0PDGFRB CL E G H51598804OMIM:213600Basal ganglia calcification, idiopathic, 1.28
HP:0000006HP:0000006Autosomal dominant inheritance0PDGFRB CL E G H51598804OMIM:615007Basal ganglia calcification, idiopathic, 4.28
HP:0000006HP:0000006Autosomal dominant inheritance0PDGFRB CL E G H51598804OMIM:616592Kosaki overgrowth syndrome.28
HP:0000006HP:0000006Autosomal dominant inheritance0PDGFRB CL E G H51598804OMIM:131440Myeloproliferative disorder, chronic, with eosinophilia.28
HP:0000006HP:0000006Autosomal dominant inheritance0PDGFRB CL E G H51598804OMIM:228550Myofibromatosis, infantile, 1.28
HP:0000006HP:0000006Autosomal dominant inheritance0PDGFRB CL E G H51598804OMIM:601812Premature aging syndrome, Penttinen type.28
HP:0000006HP:0000006Autosomal dominant inheritance0PDGFRL CL E G H51578805OMIM:114500Colorectal cancer.2
HP:0000006HP:0000006Autosomal dominant inheritance0PDLIM4 CL E G H857216501OMIM:166710OSTEOPOROSIS.1
HP:0000006HP:0000006Autosomal dominant inheritance0PDX1 CL E G H36516107OMIM:125853Diabetes mellitus, noninsulin-dependent.30
HP:0000006HP:0000006Autosomal dominant inheritance0PDX1 CL E G H36516107OMIM:606392Maturity-onset diabetes of the young, type 4.30
HP:0000006HP:0000006Autosomal dominant inheritance0PDYN CL E G H51738820OMIM:610245Spinocerebellar ataxia 23.52
HP:0000006HP:0000006Autosomal dominant inheritance0PER2 CL E G H88648846OMIM:604348Advanced sleep phase syndrome, familial, 1.2
HP:0000006HP:0000006Autosomal dominant inheritance0PER3 CL E G H88638847OMIM:616882Advanced sleep phase syndrome, familial, 3.3
HP:0000006HP:0000006Autosomal dominant inheritance0PERP CL E G H6406517637OMIM:619208OLMSTED SYNDROME 2; OLMS2
HP:0000006HP:0000006Autosomal dominant inheritance0PEX6 CL E G H51908859OMIM:614863Peroxisome biogenesis disorder 4B.98
HP:0000006HP:0000006Autosomal dominant inheritance0PFN1 CL E G H52168881OMIM:614808AMYOTROPHIC LATERAL SCLEROSIS 18; ALS186
HP:0000006HP:0000006Autosomal dominant inheritance0PHACTR1 CL E G H22169220990OMIM:618298DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE701
HP:0000006HP:0000006Autosomal dominant inheritance0PHB1 CL E G H52458912OMIM:114480Breast cancer.
HP:0000006HP:0000006Autosomal dominant inheritance0PHF21A CL E G H5131724156OMIM:618725INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS2
HP:0000006HP:0000006Autosomal dominant inheritance0PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features.11
HP:0000006HP:0000006Autosomal dominant inheritance0PHOX2B CL E G H89299143OMIM:209880Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease86
HP:0000006HP:0000006Autosomal dominant inheritance0PHOX2B CL E G H89299143OMIM:613013Neuroblastoma, susceptibility to, 2.86
HP:0000006HP:0000006Autosomal dominant inheritance0PICALM CL E G H830115514OMIM:601626Leukemia, acute myeloid.3
HP:0000006HP:0000006Autosomal dominant inheritance0PIEZO1 CL E G H978028993OMIM:194380Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema.36
HP:0000006HP:0000006Autosomal dominant inheritance0PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 3.77
HP:0000006HP:0000006Autosomal dominant inheritance0PIEZO2 CL E G H6389526270OMIM:108145Arthrogryposis, distal, type 5.77
HP:0000006HP:0000006Autosomal dominant inheritance0PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome.77
HP:0000006HP:0000006Autosomal dominant inheritance0PIGT CL E G H5160414938OMIM:615399Paroxysmal nocturnal hemoglobinuria 2.12
HP:0000006HP:0000006Autosomal dominant inheritance0PIK3CA CL E G H52908975OMIM:114480Breast cancer.162
HP:0000006HP:0000006Autosomal dominant inheritance0PIK3CA CL E G H52908975OMIM:619538CEREBRAL CAVERNOUS MALFORMATIONS 4; CCM4162
HP:0000006HP:0000006Autosomal dominant inheritance0PIK3CA CL E G H52908975OMIM:114500Colorectal cancer.162
HP:0000006HP:0000006Autosomal dominant inheritance0PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5162
HP:0000006HP:0000006Autosomal dominant inheritance0PIK3CA CL E G H52908975OMIM:211980Lung cancer, susceptibility to.162
HP:0000006HP:0000006Autosomal dominant inheritance0PIK3CA CL E G H52908975OMIM:167000Ovarian cancer.162
HP:0000006HP:0000006Autosomal dominant inheritance0PIK3CD CL E G H52938977OMIM:615513IMMUNODEFICIENCY 14; IMD149
HP:0000006HP:0000006Autosomal dominant inheritance0PIK3R1 CL E G H52958979OMIM:616005Immunodeficiency 36.43
HP:0000006HP:0000006Autosomal dominant inheritance0PIK3R1 CL E G H52958979OMIM:269880Short syndrome.43
HP:0000006HP:0000006Autosomal dominant inheritance0PIK3R2 CL E G H52968980OMIM:603387Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome.12
HP:0000006HP:0000006Autosomal dominant inheritance0PIKFYVE CL E G H20057623785OMIM:121850Corneal fleck dystrophy.112
HP:0000006HP:0000006Autosomal dominant inheritance0PITPNM3 CL E G H8339421043OMIM:600977Cone-Rod dystrophy 5.135
HP:0000006HP:0000006Autosomal dominant inheritance0PITX1 CL E G H53079004OMIM:119800CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF8
HP:0000006HP:0000006Autosomal dominant inheritance0PITX1 CL E G H53079004OMIM:186550Synostosis, carpal, with dysplastic elbow joints and brachydactyly.8
HP:0000006HP:0000006Autosomal dominant inheritance0PITX2 CL E G H53089005OMIM:137600ANTERIOR SEGMENT DYSGENESIS 4; ASGD451
HP:0000006HP:0000006Autosomal dominant inheritance0PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 1.51
HP:0000006HP:0000006Autosomal dominant inheritance0PITX2 CL E G H53089005OMIM:180550Ring dermoid of cornea.51
HP:0000006HP:0000006Autosomal dominant inheritance0PITX3 CL E G H53099006OMIM:107250Anterior segment dysgenesis 1.6
HP:0000006HP:0000006Autosomal dominant inheritance0PITX3 CL E G H53099006OMIM:610623Cataract 11, multiple types.6
HP:0000006HP:0000006Autosomal dominant inheritance0PKD1 CL E G H53109008OMIM:173900Polycystic kidneys.342
HP:0000006HP:0000006Autosomal dominant inheritance0PKD2 CL E G H53119009OMIM:613095Polycystic kidney disease 2.106
HP:0000006HP:0000006Autosomal dominant inheritance0PKLR CL E G H53139020OMIM:102900Adenosine triphosphate, elevated, of erythrocytes.51
HP:0000006HP:0000006Autosomal dominant inheritance0PKP2 CL E G H53189024OMIM:609040Arrhythmogenic right ventricular dysplasia, familial, 9.406
HP:0000006HP:0000006Autosomal dominant inheritance0PLA2G2A CL E G H53209031OMIM:114500Colorectal cancer.1
HP:0000006HP:0000006Autosomal dominant inheritance0PLA2G7 CL E G H79419040OMIM:600807Asthma, susceptibility to.5
HP:0000006HP:0000006Autosomal dominant inheritance0PLA2G7 CL E G H79419040OMIM:147050Ige responsiveness, atopic.5
HP:0000006HP:0000006Autosomal dominant inheritance0PLAG1 CL E G H53249045OMIM:181030Salivary gland adenoma, pleomorphic.3
HP:0000006HP:0000006Autosomal dominant inheritance0PLAG1 CL E G H53249045OMIM:618907SILVER-RUSSELL SYNDROME 4; SRS43
HP:0000006HP:0000006Autosomal dominant inheritance0PLAU CL E G H53289052OMIM:104300Alzheimer disease.50
HP:0000006HP:0000006Autosomal dominant inheritance0PLAU CL E G H53289052OMIM:601709Quebec platelet disorder.50
HP:0000006HP:0000006Autosomal dominant inheritance0PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 2.82
HP:0000006HP:0000006Autosomal dominant inheritance0PLCD1 CL E G H53339060OMIM:151600Nail disorder, nonsyndromic congenital, 3.5
HP:0000006HP:0000006Autosomal dominant inheritance0PLCG2 CL E G H53369066OMIM:614878Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated.21
HP:0000006HP:0000006Autosomal dominant inheritance0PLCG2 CL E G H53369066OMIM:614468FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS321
HP:0000006HP:0000006Autosomal dominant inheritance0PLD3 CL E G H2364617158OMIM:617770Spinocerebellar ataxia 46.2
HP:0000006HP:0000006Autosomal dominant inheritance0PLEC CL E G H53399069OMIM:131950Epidermolysis bullosa simplex, Ogna type.759
HP:0000006HP:0000006Autosomal dominant inheritance0PLEKHM1 CL E G H984229017OMIM:618107OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA32
HP:0000006HP:0000006Autosomal dominant inheritance0PLG CL E G H53409071OMIM:619360ANGIOEDEMA, HEREDITARY, 4; HAE411
HP:0000006HP:0000006Autosomal dominant inheritance0PLIN1 CL E G H53469076OMIM:613877Lipodystrophy, familial partial, type 4.19
HP:0000006HP:0000006Autosomal dominant inheritance0PLN CL E G H53509080OMIM:609909Cardiomyopathy, dilated, 1P57
HP:0000006HP:0000006Autosomal dominant inheritance0PLN CL E G H53509080OMIM:613874Cardiomyopathy, familial hypertrophic, 18.57
HP:0000006HP:0000006Autosomal dominant inheritance0PLS1 CL E G H53579090OMIM:618787DEAFNESS, AUTOSOMAL DOMINANT 76; DFNA76
HP:0000006HP:0000006Autosomal dominant inheritance0PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G.1
HP:0000006HP:0000006Autosomal dominant inheritance0PMP22 CL E G H53769118OMIM:118300Charcot-Marie-Tooth disease and deafness.79
HP:0000006HP:0000006Autosomal dominant inheritance0PMP22 CL E G H53769118OMIM:118220Charcot-Marie-Tooth disease, demyelinating, type 1A.79
HP:0000006HP:0000006Autosomal dominant inheritance0PMP22 CL E G H53769118OMIM:139393GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS79
HP:0000006HP:0000006Autosomal dominant inheritance0PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas.79
HP:0000006HP:0000006Autosomal dominant inheritance0PMP22 CL E G H53769118OMIM:162500Neuropathy, hereditary, with liability to pressure palsies.79
HP:0000006HP:0000006Autosomal dominant inheritance0PMP22 CL E G H53769118OMIM:180800Roussy-Levy hereditary areflexic dystasia.79
HP:0000006HP:0000006Autosomal dominant inheritance0PMS1 CL E G H53789121OMIM:120435Lynch syndrome I.56
HP:0000006HP:0000006Autosomal dominant inheritance0PMS2 CL E G H53959122OMIM:614337Colorectal cancer, hereditary nonpolyposis, type 4.1121
HP:0000006HP:0000006Autosomal dominant inheritance0PMVK CL E G H106549141OMIM:175800Porokeratosis 1, multiple types.3
HP:0000006HP:0000006Autosomal dominant inheritance0PNKD CL E G H259539153OMIM:118800Paroxysmal nonkinesigenic dyskinesia 1.66
HP:0000006HP:0000006Autosomal dominant inheritance0PNPT1 CL E G H8717823166OMIM:608703Spinocerebellar ataxia 25.60
HP:0000006HP:0000006Autosomal dominant inheritance0POFUT1 CL E G H2350914988OMIM:615327Dowling-Degos disease 22
HP:0000006HP:0000006Autosomal dominant inheritance0POGLUT1 CL E G H5698322954OMIM:615696Dowling-Degos disease 4.6
HP:0000006HP:0000006Autosomal dominant inheritance0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome.35
HP:0000006HP:0000006Autosomal dominant inheritance0POLD1 CL E G H54249175OMIM:612591Colorectal cancer, susceptibility to, 10.731
HP:0000006HP:0000006Autosomal dominant inheritance0POLD1 CL E G H54249175OMIM:615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome.731
HP:0000006HP:0000006Autosomal dominant inheritance0POLE CL E G H54269177OMIM:615083Colorectal cancer, susceptibility to, 12.1129
HP:0000006HP:0000006Autosomal dominant inheritance0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0000006HP:0000006Autosomal dominant inheritance0POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4.45
HP:0000006HP:0000006Autosomal dominant inheritance0POLR1A CL E G H2588517264OMIM:616462Acrofacial dysostosis, Cincinnati type.8
HP:0000006HP:0000006Autosomal dominant inheritance0POLR1B CL E G H8417220454OMIM:618939TREACHER COLLINS SYNDROME 4; TCS4
HP:0000006HP:0000006Autosomal dominant inheritance0POLR1D CL E G H5108220422OMIM:613717Treacher collins syndrome 2.31
HP:0000006HP:0000006Autosomal dominant inheritance0POLR2A CL E G H54309187OMIM:618603NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0000006HP:0000006Autosomal dominant inheritance0POLR3B CL E G H5570330348OMIM:619742CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I67
HP:0000006HP:0000006Autosomal dominant inheritance0POLR3F CL E G H1062115763OMIM:619872
HP:0000006HP:0000006Autosomal dominant inheritance0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0000006HP:0000006Autosomal dominant inheritance0POMC CL E G H54439201OMIM:601665OBESITY.27
HP:0000006HP:0000006Autosomal dominant inheritance0POMP CL E G H5137120330OMIM:618048Proteasome-Associated autoinflammatory syndrome 2.2
HP:0000006HP:0000006Autosomal dominant inheritance0POR CL E G H54479208OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.76
HP:0000006HP:0000006Autosomal dominant inheritance0POT1 CL E G H2591317284OMIM:616568Glioma susceptibility 9.23
HP:0000006HP:0000006Autosomal dominant inheritance0POT1 CL E G H2591317284OMIM:615848Melanoma, cutaneous malignant, susceptibility to, 10.23
HP:0000006HP:0000006Autosomal dominant inheritance0POU1F1 CL E G H54499210OMIM:613038Pituitary hormone deficiency, combined, 1.36
HP:0000006HP:0000006Autosomal dominant inheritance0POU3F3 CL E G H54559216OMIM:618604SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0000006HP:0000006Autosomal dominant inheritance0POU4F1 CL E G H54579218OMIM:619352ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0000006HP:0000006Autosomal dominant inheritance0POU4F3 CL E G H54599220OMIM:602459Deafness, autosomal dominant 15.29
HP:0000006HP:0000006Autosomal dominant inheritance0POU6F2 CL E G H1128121694OMIM:601583Wilms tumor 5.2
HP:0000006HP:0000006Autosomal dominant inheritance0PPARG CL E G H54689236OMIM:125853Diabetes mellitus, noninsulin-dependent.42
HP:0000006HP:0000006Autosomal dominant inheritance0PPARG CL E G H54689236OMIM:604367Lipodystrophy, familial partial, type 3.42
HP:0000006HP:0000006Autosomal dominant inheritance0PPARG CL E G H54689236OMIM:601665OBESITY.42
HP:0000006HP:0000006Autosomal dominant inheritance0PPM1D CL E G H84939277OMIM:114480Breast cancer.22
HP:0000006HP:0000006Autosomal dominant inheritance0PPM1D CL E G H84939277OMIM:617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold.22
HP:0000006HP:0000006Autosomal dominant inheritance0PPOX CL E G H54989280OMIM:176200Porphyria variegata.41
HP:0000006HP:0000006Autosomal dominant inheritance0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0000006HP:0000006Autosomal dominant inheritance0PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000006HP:0000006Autosomal dominant inheritance0PPP1R17 CL E G H1084216973OMIM:143890Hypercholesterolemia, familial, 12
HP:0000006HP:0000006Autosomal dominant inheritance0PPP1R3A CL E G H55069291OMIM:125853Diabetes mellitus, noninsulin-dependent.12
HP:0000006HP:0000006Autosomal dominant inheritance0PPP2CA CL E G H55159299OMIM:618354Neurodevelopmental disorder and language delay with or without structural brain abnormalities.2
HP:0000006HP:0000006Autosomal dominant inheritance0PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 36.13
HP:0000006HP:0000006Autosomal dominant inheritance0PPP2R1B CL E G H55199303OMIM:211980Lung cancer, susceptibility to.1
HP:0000006HP:0000006Autosomal dominant inheritance0PPP2R2B CL E G H55219305OMIM:604326Spinocerebellar ataxia 12.5
HP:0000006HP:0000006Autosomal dominant inheritance0PPP2R3C CL E G H5501217485OMIM:618420Spermatogenic failure 36.
HP:0000006HP:0000006Autosomal dominant inheritance0PPP2R5D CL E G H55289312OMIM:616355Mental retardation, autosomal dominant 35.10
HP:0000006HP:0000006Autosomal dominant inheritance0PPP3CA CL E G H55309314OMIM:618265Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development.2
HP:0000006HP:0000006Autosomal dominant inheritance0PPP3CA CL E G H55309314OMIM:617711Epileptic encephalopathy, infantile or early childhood, 1.2
HP:0000006HP:0000006Autosomal dominant inheritance0PRCC CL E G H55469343OMIM:605074RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1
HP:0000006HP:0000006Autosomal dominant inheritance0PRDM16 CL E G H6397614000OMIM:615373Left ventricular noncompaction 8.148
HP:0000006HP:0000006Autosomal dominant inheritance0PRDM6 CL E G H931669350OMIM:617039Patent ductus arteriosus 3.3
HP:0000006HP:0000006Autosomal dominant inheritance0PRDX3 CL E G H109359354OMIM:619871
HP:0000006HP:0000006Autosomal dominant inheritance0PRIMPOL CL E G H20197326575OMIM:615420Myopia 22, autosomal dominant.1
HP:0000006HP:0000006Autosomal dominant inheritance0PRKACA CL E G H55669380OMIM:619142CARDIOACROFACIAL DYSPLASIA 1; CAFD12
HP:0000006HP:0000006Autosomal dominant inheritance0PRKACA CL E G H55669380OMIM:615830Pigmented nodular adrenocortical disease, primary, 4.2
HP:0000006HP:0000006Autosomal dominant inheritance0PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0000006HP:0000006Autosomal dominant inheritance0PRKAG2 CL E G H514229386OMIM:600858Cardiomyopathy, familial hypertrophic, 6.235
HP:0000006HP:0000006Autosomal dominant inheritance0PRKAG2 CL E G H514229386OMIM:261740Glycogen storage disease of heart, lethal congenital.235
HP:0000006HP:0000006Autosomal dominant inheritance0PRKAG2 CL E G H514229386OMIM:194200WOLFF-PARKINSON-WHITE SYNDROME235
HP:0000006HP:0000006Autosomal dominant inheritance0PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance134
HP:0000006HP:0000006Autosomal dominant inheritance0PRKAR1A CL E G H55739388OMIM:160980Carney complex, type 1134
HP:0000006HP:0000006Autosomal dominant inheritance0PRKAR1A CL E G H55739388OMIM:255960Myxoma, intracardiac.134
HP:0000006HP:0000006Autosomal dominant inheritance0PRKAR1A CL E G H55739388OMIM:610489Pigmented nodular adrenocortical disease, primary, 1.134
HP:0000006HP:0000006Autosomal dominant inheritance0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0000006HP:0000006Autosomal dominant inheritance0PRKCG CL E G H55829402OMIM:605361Spinocerebellar ataxia 14.83
HP:0000006HP:0000006Autosomal dominant inheritance0PRKCSH CL E G H55899411OMIM:174050Polycystic liver disease 1 with or without kidney cysts.63
HP:0000006HP:0000006Autosomal dominant inheritance0PRKD1 CL E G H55879407OMIM:617364Congenital heart defects and ectodermal dysplasia.7
HP:0000006HP:0000006Autosomal dominant inheritance0PRKG1 CL E G H55929414OMIM:615436AORTIC ANEURYSM, FAMILIAL THORACIC 8; AAT841
HP:0000006HP:0000006Autosomal dominant inheritance0PRKN CL E G H50718607OMIM:211980Lung cancer, susceptibility to.138
HP:0000006HP:0000006Autosomal dominant inheritance0PRKN CL E G H50718607OMIM:167000Ovarian cancer.138
HP:0000006HP:0000006Autosomal dominant inheritance0PRLR CL E G H56189446OMIM:615555HYPERPROLACTINEMIA.2
HP:0000006HP:0000006Autosomal dominant inheritance0PRLR CL E G H56189446OMIM:615554MULTIPLE FIBROADENOMAS OF THE BREAST; MFAB2
HP:0000006HP:0000006Autosomal dominant inheritance0PRNP CL E G H56219449OMIM:123400Creutzfeldt-Jakob disease.69
HP:0000006HP:0000006Autosomal dominant inheritance0PRNP CL E G H56219449OMIM:600072Fatal familial insomnia.69
HP:0000006HP:0000006Autosomal dominant inheritance0PRNP CL E G H56219449OMIM:137440Gerstmann-Straussler disease.69
HP:0000006HP:0000006Autosomal dominant inheritance0PRNP CL E G H56219449OMIM:603218Huntington disease-like 1.69
HP:0000006HP:0000006Autosomal dominant inheritance0PRNP CL E G H56219449OMIM:606688Spongiform encephalopathy with neuropsychiatric features.69
HP:0000006HP:0000006Autosomal dominant inheritance0PROC CL E G H56249451OMIM:176860Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant.65
HP:0000006HP:0000006Autosomal dominant inheritance0PRODH CL E G H56259453OMIM:600850Schizophrenia 4.13
HP:0000006HP:0000006Autosomal dominant inheritance0PROK2 CL E G H6067518455OMIM:610628Hypogonadotropic hypogonadism 4 with or without anosmia.9
HP:0000006HP:0000006Autosomal dominant inheritance0PROKR2 CL E G H12867415836OMIM:244200Hypogonadotropic hypogonadism 3 with or without anosmia.34
HP:0000006HP:0000006Autosomal dominant inheritance0PROM1 CL E G H88429454OMIM:612657CONE-ROD DYSTROPHY 12; CORD12110
HP:0000006HP:0000006Autosomal dominant inheritance0PROM1 CL E G H88429454OMIM:608051Macular dystrophy, retinal, 2.110
HP:0000006HP:0000006Autosomal dominant inheritance0PROM1 CL E G H88429454OMIM:603786Stargardt disease 4.110
HP:0000006HP:0000006Autosomal dominant inheritance0PROS1 CL E G H56279456OMIM:612336Thrombophilia, hereditary, due to protein S deficiency, autosomal.75
HP:0000006HP:0000006Autosomal dominant inheritance0PRPF3 CL E G H912917348OMIM:601414Retinitis pigmentosa 18.28
HP:0000006HP:0000006Autosomal dominant inheritance0PRPF31 CL E G H2612115446OMIM:600138Retinitis pigmentosa 1170
HP:0000006HP:0000006Autosomal dominant inheritance0PRPF4 CL E G H912817349OMIM:615922Retinitis pigmentosa 70.2
HP:0000006HP:0000006Autosomal dominant inheritance0PRPF6 CL E G H2414815860OMIM:613983Retinitis pigmentosa 60.51
HP:0000006HP:0000006Autosomal dominant inheritance0PRPF8 CL E G H1059417340OMIM:600059Retinitis pigmentosa 13.94
HP:0000006HP:0000006Autosomal dominant inheritance0PRPH CL E G H56309461OMIM:105400Amyotrophic lateral sclerosis 125
HP:0000006HP:0000006Autosomal dominant inheritance0PRPH2 CL E G H59619942OMIM:613105Choroidal dystrophy, central areolar 2.159
HP:0000006HP:0000006Autosomal dominant inheritance0PRPH2 CL E G H59619942OMIM:136880Fundus albipunctatus.159
HP:0000006HP:0000006Autosomal dominant inheritance0PRPH2 CL E G H59619942OMIM:169150Macular dystrophy, patterned, 1.159
HP:0000006HP:0000006Autosomal dominant inheritance0PRPH2 CL E G H59619942OMIM:608161Macular dystrophy, vitelliform, 3.159
HP:0000006HP:0000006Autosomal dominant inheritance0PRPH2 CL E G H59619942OMIM:608133Retinitis pigmentosa 7159
HP:0000006HP:0000006Autosomal dominant inheritance0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000006HP:0000006Autosomal dominant inheritance0PRRT2 CL E G H11247630500OMIM:602066Convulsions, familial infantile, with paroxysmal choreoathetosis.94
HP:0000006HP:0000006Autosomal dominant inheritance0PRRT2 CL E G H11247630500OMIM:128200Episodic kinesigenic dyskinesia 1.94
HP:0000006HP:0000006Autosomal dominant inheritance0PRRT2 CL E G H11247630500OMIM:605751Seizures, benign familial infantile, 2.94
HP:0000006HP:0000006Autosomal dominant inheritance0PRRX1 CL E G H53969142OMIM:202650Agnathia-Otocephaly complex.4
HP:0000006HP:0000006Autosomal dominant inheritance0PRSS1 CL E G H56449475OMIM:167800Pancreatitis, hereditary.51
HP:0000006HP:0000006Autosomal dominant inheritance0PRSS2 CL E G H56459483OMIM:167800Pancreatitis, hereditary.1
HP:0000006HP:0000006Autosomal dominant inheritance0PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas.170
HP:0000006HP:0000006Autosomal dominant inheritance0PSAP CL E G H56609498OMIM:619491PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK2481
HP:0000006HP:0000006Autosomal dominant inheritance0PSEN1 CL E G H56639508OMIM:613737Acne inversa, familial, 3241
HP:0000006HP:0000006Autosomal dominant inheritance0PSEN1 CL E G H56639508OMIM:607822Alzheimer disease 3.241
HP:0000006HP:0000006Autosomal dominant inheritance0PSEN1 CL E G H56639508OMIM:613694Cardiomyopathy, dilated, 1U.241
HP:0000006HP:0000006Autosomal dominant inheritance0PSEN1 CL E G H56639508OMIM:600274Frontotemporal dementia.241
HP:0000006HP:0000006Autosomal dominant inheritance0PSEN1 CL E G H56639508OMIM:172700Pick disease of brain.241
HP:0000006HP:0000006Autosomal dominant inheritance0PSEN2 CL E G H56649509OMIM:606889Alzheimer disease 459
HP:0000006HP:0000006Autosomal dominant inheritance0PSEN2 CL E G H56649509OMIM:613697Cardiomyopathy, dilated, 1V.59
HP:0000006HP:0000006Autosomal dominant inheritance0PSENEN CL E G H5585130100OMIM:613736Acne inversa, familial, 2, with or without dowling-degos disease.2
HP:0000006HP:0000006Autosomal dominant inheritance0PSMD12 CL E G H57189557OMIM:617516Stankiewicz-Isidor syndrome4
HP:0000006HP:0000006Autosomal dominant inheritance0PSTPIP1 CL E G H90519580OMIM:604416Pyogenic sterile arthritis, pyoderma gangrenosum, and acne96
HP:0000006HP:0000006Autosomal dominant inheritance0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome.665
HP:0000006HP:0000006Autosomal dominant inheritance0PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0000006HP:0000006Autosomal dominant inheritance0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome.40
HP:0000006HP:0000006Autosomal dominant inheritance0PTCH2 CL E G H86439586OMIM:155255MEDULLOBLASTOMA.40
HP:0000006HP:0000006Autosomal dominant inheritance0PTDSS1 CL E G H97919587OMIM:151050Lenz-Majewski hyperostotic dwarfism.6
HP:0000006HP:0000006Autosomal dominant inheritance0PTEN CL E G H57289588OMIM:158350Cowden syndrome 1.948
HP:0000006HP:0000006Autosomal dominant inheritance0PTEN CL E G H57289588OMIM:605309Macrocephaly/autism syndrome.948
HP:0000006HP:0000006Autosomal dominant inheritance0PTEN CL E G H57289588OMIM:607174Meningioma, familial, susceptibility to.948
HP:0000006HP:0000006Autosomal dominant inheritance0PTEN CL E G H57289588OMIM:176807Prostate cancer.948
HP:0000006HP:0000006Autosomal dominant inheritance0PTH CL E G H57419606OMIM:146200Hypoparathyroidism, familial isolated.16
HP:0000006HP:0000006Autosomal dominant inheritance0PTH1R CL E G H57459608OMIM:125350Dental noneruption.58
HP:0000006HP:0000006Autosomal dominant inheritance0PTH1R CL E G H57459608OMIM:156400Metaphyseal chondrodysplasia, Jansen type.58
HP:0000006HP:0000006Autosomal dominant inheritance0PTHLH CL E G H57449607OMIM:613382Brachydactyly, type E2.6
HP:0000006HP:0000006Autosomal dominant inheritance0PTPN1 CL E G H57709642OMIM:125853Diabetes mellitus, noninsulin-dependent.1
HP:0000006HP:0000006Autosomal dominant inheritance0PTPN11 CL E G H57819644OMIM:607785Juvenile myelomonocytic leukemia.291
HP:0000006HP:0000006Autosomal dominant inheritance0PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1.291
HP:0000006HP:0000006Autosomal dominant inheritance0PTPN11 CL E G H57819644OMIM:156250METACHONDROMATOSIS.291
HP:0000006HP:0000006Autosomal dominant inheritance0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0000006HP:0000006Autosomal dominant inheritance0PTPN12 CL E G H57829645OMIM:114500Colorectal cancer.1
HP:0000006HP:0000006Autosomal dominant inheritance0PTPN22 CL E G H261919652OMIM:152700Systemic lupus erythematosus.3
HP:0000006HP:0000006Autosomal dominant inheritance0PTPRJ CL E G H57959673OMIM:114500Colorectal cancer.3
HP:0000006HP:0000006Autosomal dominant inheritance0PTPRQ CL E G H3744629679OMIM:617663Deafness, autosomal dominant 73.7
HP:0000006HP:0000006Autosomal dominant inheritance0PUF60 CL E G H2282717042OMIM:615583Verheij syndrome.19
HP:0000006HP:0000006Autosomal dominant inheritance0PUM1 CL E G H969814957OMIM:617931Spinocerebellar ataxia 471
HP:0000006HP:0000006Autosomal dominant inheritance0PURA CL E G H58139701OMIM:616158Mental retardation, autosomal dominant 31.53
HP:0000006HP:0000006Autosomal dominant inheritance0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome.
HP:0000006HP:0000006Autosomal dominant inheritance0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome.
HP:0000006HP:0000006Autosomal dominant inheritance0QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0000006HP:0000006Autosomal dominant inheritance0RAB11B CL E G H92309761OMIM:617807Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter.
HP:0000006HP:0000006Autosomal dominant inheritance0RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B.50
HP:0000006HP:0000006Autosomal dominant inheritance0RABL3 CL E G H28528218072OMIM:618680PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5
HP:0000006HP:0000006Autosomal dominant inheritance0RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483
HP:0000006HP:0000006Autosomal dominant inheritance0RAC2 CL E G H58809802OMIM:618986IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B9
HP:0000006HP:0000006Autosomal dominant inheritance0RAC2 CL E G H58809802OMIM:608203NEUTROPHIL IMMUNODEFICIENCY SYNDROME9
HP:0000006HP:0000006Autosomal dominant inheritance0RAC3 CL E G H58819803OMIM:618577NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF1
HP:0000006HP:0000006Autosomal dominant inheritance0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 4.25
HP:0000006HP:0000006Autosomal dominant inheritance0RAD51 CL E G H58889817OMIM:114480Breast cancer.9
HP:0000006HP:0000006Autosomal dominant inheritance0RAD51 CL E G H58889817OMIM:617244Fanconi anemia, complementation group R.9
HP:0000006HP:0000006Autosomal dominant inheritance0RAD51 CL E G H58889817OMIM:614508Mirror movements 2.9
HP:0000006HP:0000006Autosomal dominant inheritance0RAD54B CL E G H2578817228OMIM:114500Colorectal cancer.2
HP:0000006HP:0000006Autosomal dominant inheritance0RAD54L CL E G H84389826OMIM:114480Breast cancer.5
HP:0000006HP:0000006Autosomal dominant inheritance0RAF1 CL E G H58949829OMIM:615916Cardiomyopathy, dilated, 1nn.212
HP:0000006HP:0000006Autosomal dominant inheritance0RAF1 CL E G H58949829OMIM:611554LEOPARD SYNDROME 2; LPRD2212
HP:0000006HP:0000006Autosomal dominant inheritance0RAF1 CL E G H58949829OMIM:611553Noonan syndrome 5212
HP:0000006HP:0000006Autosomal dominant inheritance0RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0000006HP:0000006Autosomal dominant inheritance0RALA CL E G H58989839OMIM:619311HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000006HP:0000006Autosomal dominant inheritance0RANBP2 CL E G H59039848OMIM:608033Encephalopathy, acute, infection-induced, susceptibility to, 3.57
HP:0000006HP:0000006Autosomal dominant inheritance0RAPGEF2 CL E G H969316854OMIM:618075EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7; FAME7
HP:0000006HP:0000006Autosomal dominant inheritance0RARB CL E G H59159865OMIM:615524Microphthalmia, syndromic 12.9
HP:0000006HP:0000006Autosomal dominant inheritance0RASA1 CL E G H59219871OMIM:608354CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1; CMAVM188
HP:0000006HP:0000006Autosomal dominant inheritance0RAX2 CL E G H8483918286OMIM:610381Cone-Rod dystrophy 1152
HP:0000006HP:0000006Autosomal dominant inheritance0RB1 CL E G H59259884OMIM:109800Bladder cancer.365
HP:0000006HP:0000006Autosomal dominant inheritance0RB1 CL E G H59259884OMIM:180200RETINOBLASTOMA.365
HP:0000006HP:0000006Autosomal dominant inheritance0RB1 CL E G H59259884OMIM:182280Small cell cancer of the lung.365
HP:0000006HP:0000006Autosomal dominant inheritance0RB1CC1 CL E G H982115574OMIM:114480Breast cancer.2
HP:0000006HP:0000006Autosomal dominant inheritance0RBM12 CL E G H101379898OMIM:617629Schizophrenia 19.2
HP:0000006HP:0000006Autosomal dominant inheritance0RBM20 CL E G H28299627424OMIM:613172Cardiomyopathy, dilated, 1dd.363
HP:0000006HP:0000006Autosomal dominant inheritance0RBP3 CL E G H59499921OMIM:268000Retinitis pigmentosa.108
HP:0000006HP:0000006Autosomal dominant inheritance0RBP4 CL E G H59509922OMIM:616428Microphthalmia, isolated, with coloboma 10.8
HP:0000006HP:0000006Autosomal dominant inheritance0RBPJ CL E G H35165724OMIM:614814Adams-Oliver syndrome 3.3
HP:0000006HP:0000006Autosomal dominant inheritance0RDH12 CL E G H14522619977OMIM:612712Leber congenital amaurosis 13.45
HP:0000006HP:0000006Autosomal dominant inheritance0RDH5 CL E G H59599940OMIM:136880Fundus albipunctatus.32
HP:0000006HP:0000006Autosomal dominant inheritance0REEP1 CL E G H6505525786OMIM:614751Neuronopathy, distal hereditary motor, type VB.87
HP:0000006HP:0000006Autosomal dominant inheritance0REEP1 CL E G H6505525786OMIM:610250Spastic paraplegia 31, autosomal dominant.87
HP:0000006HP:0000006Autosomal dominant inheritance0REEP2 CL E G H5130817975OMIM:615625Spastic paraplegia 72, autosomal recessive.3
HP:0000006HP:0000006Autosomal dominant inheritance0RELA CL E G H59709955OMIM:618287MUCOCUTANEOUS ULCERATION, CHRONIC; CMCU1
HP:0000006HP:0000006Autosomal dominant inheritance0RELN CL E G H56499957OMIM:600512EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1334
HP:0000006HP:0000006Autosomal dominant inheritance0RELN CL E G H56499957OMIM:616436EPILEPSY, FAMILIAL TEMPORAL LOBE, 7; ETL7334
HP:0000006HP:0000006Autosomal dominant inheritance0REN CL E G H59729958OMIM:613092Hyperuricemic nephropathy, familial juvenile, 2.25
HP:0000006HP:0000006Autosomal dominant inheritance0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0000006HP:0000006Autosomal dominant inheritance0REST CL E G H59789966OMIM:612431DEAFNESS, AUTOSOMAL DOMINANT 27; DFNA277
HP:0000006HP:0000006Autosomal dominant inheritance0REST CL E G H59789966OMIM:617626Fibromatosis, gingival, 5.7
HP:0000006HP:0000006Autosomal dominant inheritance0REST CL E G H59789966OMIM:616806WILMS TUMOR 6; WT67
HP:0000006HP:0000006Autosomal dominant inheritance0RET CL E G H59799967OMIM:142623Hirschsprung disease, susceptibility to, 1.572
HP:0000006HP:0000006Autosomal dominant inheritance0RET CL E G H59799967OMIM:171400Multiple endocrine neoplasia, type IIA.572
HP:0000006HP:0000006Autosomal dominant inheritance0RET CL E G H59799967OMIM:162300Multiple endocrine neoplasia, type IIB.572
HP:0000006HP:0000006Autosomal dominant inheritance0RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA.572
HP:0000006HP:0000006Autosomal dominant inheritance0RET CL E G H59799967OMIM:155240Thyroid carcinoma, familial medullary.572
HP:0000006HP:0000006Autosomal dominant inheritance0RETN CL E G H5672920389OMIM:125853Diabetes mellitus, noninsulin-dependent.1
HP:0000006HP:0000006Autosomal dominant inheritance0RGR CL E G H59959990OMIM:613769RETINITIS PIGMENTOSA 44; RP4428
HP:0000006HP:0000006Autosomal dominant inheritance0RHAG CL E G H600510006OMIM:268150Anemia, hemolytic, Rh-null, Regulator type.13
HP:0000006HP:0000006Autosomal dominant inheritance0RHAG CL E G H600510006OMIM:185000Overhydrated hereditary stomatocytosis.13
HP:0000006HP:0000006Autosomal dominant inheritance0RHBDF2 CL E G H7965120788OMIM:148500Tylosis with esophageal cancer.80
HP:0000006HP:0000006Autosomal dominant inheritance0RHO CL E G H601010012OMIM:136880Fundus albipunctatus.107
HP:0000006HP:0000006Autosomal dominant inheritance0RHO CL E G H601010012OMIM:610445Night blindness, congenital stationary, autosomal dominant 1107
HP:0000006HP:0000006Autosomal dominant inheritance0RHO CL E G H601010012OMIM:613731Retinitis pigmentosa 4.107
HP:0000006HP:0000006Autosomal dominant inheritance0RHOBTB2 CL E G H2322118756OMIM:618004Epileptic encephalopathy, early infantile, 64.1
HP:0000006HP:0000006Autosomal dominant inheritance0RIGI CL E G H2358619102OMIM:616298Singleton-Merten syndrome 2.
HP:0000006HP:0000006Autosomal dominant inheritance0RILPL1 CL E G H35311626814OMIM:619790OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0000006HP:0000006Autosomal dominant inheritance0RIMS1 CL E G H2299917282OMIM:603649CONE-ROD DYSTROPHY 7; CORD7102
HP:0000006HP:0000006Autosomal dominant inheritance0RIPK1 CL E G H873710019OMIM:618852AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0000006HP:0000006Autosomal dominant inheritance0RIPOR2 CL E G H975013872OMIM:607017Deafness, autosomal dominant 21.1
HP:0000006HP:0000006Autosomal dominant inheritance0RIT1 CL E G H601610023OMIM:615355NOONAN SYNDROME 8; NS839
HP:0000006HP:0000006Autosomal dominant inheritance0RLBP1 CL E G H601710024OMIM:136880Fundus albipunctatus.47
HP:0000006HP:0000006Autosomal dominant inheritance0RNASEL CL E G H604110050OMIM:601518Prostate cancer, hereditary, 1.3
HP:0000006HP:0000006Autosomal dominant inheritance0RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome.5
HP:0000006HP:0000006Autosomal dominant inheritance0RNF13 CL E G H1134210057OMIM:618379DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0000006HP:0000006Autosomal dominant inheritance0RNF170 CL E G H8179025358OMIM:608984Ataxia, sensory, autosomal dominant.3
HP:0000006HP:0000006Autosomal dominant inheritance0RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000006HP:0000006Autosomal dominant inheritance0RNF213 CL E G H5767414539OMIM:607151MOYAMOYA DISEASE 2; MYMY214
HP:0000006HP:0000006Autosomal dominant inheritance0RNF43 CL E G H5489418505OMIM:617108Sessile serrated polyposis cancer syndrome.5
HP:0000006HP:0000006Autosomal dominant inheritance0ROBO2 CL E G H609210250OMIM:610878VESICOURETERAL REFLUX 2; VUR2120
HP:0000006HP:0000006Autosomal dominant inheritance0ROBO4 CL E G H5453817985OMIM:618496Aortic valve disease 3.
HP:0000006HP:0000006Autosomal dominant inheritance0ROM1 CL E G H609410254OMIM:268000Retinitis pigmentosa.38
HP:0000006HP:0000006Autosomal dominant inheritance0ROM1 CL E G H609410254OMIM:608133Retinitis pigmentosa 738
HP:0000006HP:0000006Autosomal dominant inheritance0ROR2 CL E G H492010257OMIM:113000Brachydactyly, type B1120
HP:0000006HP:0000006Autosomal dominant inheritance0RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0000006HP:0000006Autosomal dominant inheritance0RORB CL E G H609610259OMIM:618357Epilepsy, idiopathic generalized, susceptibility to, 15.3
HP:0000006HP:0000006Autosomal dominant inheritance0RP1 CL E G H610110263OMIM:180100Retinitis pigmentosa 1.111
HP:0000006HP:0000006Autosomal dominant inheritance0RP1L1 CL E G H9413715946OMIM:613587OCCULT MACULAR DYSTROPHY; OCMD284
HP:0000006HP:0000006Autosomal dominant inheritance0RP9 CL E G H610010288OMIM:180104Retinitis pigmentosa 9.14
HP:0000006HP:0000006Autosomal dominant inheritance0RPA1 CL E G H611710289OMIM:619767PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0000006HP:0000006Autosomal dominant inheritance0RPE65 CL E G H612110294OMIM:618697RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87129
HP:0000006HP:0000006Autosomal dominant inheritance0RPL11 CL E G H613510301OMIM:612562Diamond-Blackfan anemia 722
HP:0000006HP:0000006Autosomal dominant inheritance0RPL13 CL E G H613710303OMIM:618728SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0000006HP:0000006Autosomal dominant inheritance0RPL15 CL E G H613810306OMIM:615550Diamond-Blackfan anemia 12.3
HP:0000006HP:0000006Autosomal dominant inheritance0RPL18 CL E G H614110310OMIM:618310DIAMOND-BLACKFAN ANEMIA 18; DBA18
HP:0000006HP:0000006Autosomal dominant inheritance0RPL21 CL E G H614410313OMIM:615885Hypotrichosis 12.1
HP:0000006HP:0000006Autosomal dominant inheritance0RPL26 CL E G H615410327OMIM:614900Diamond-Blackfan anemia 11.3
HP:0000006HP:0000006Autosomal dominant inheritance0RPL27 CL E G H615510328OMIM:617408Diamond-Blackfan anemia 16.1
HP:0000006HP:0000006Autosomal dominant inheritance0RPL35 CL E G H1122410344OMIM:618312DIAMOND-BLACKFAN ANEMIA 19; DBA19
HP:0000006HP:0000006Autosomal dominant inheritance0RPL35A CL E G H616510345OMIM:612528Diamond-Blackfan anemia 5.11
HP:0000006HP:0000006Autosomal dominant inheritance0RPL5 CL E G H612510360OMIM:612561Diamond-Blackfan anemia 640
HP:0000006HP:0000006Autosomal dominant inheritance0RPS10 CL E G H620410383OMIM:613308Diamond-Blackfan anemia 9.26
HP:0000006HP:0000006Autosomal dominant inheritance0RPS15A CL E G H621010389OMIM:618313DIAMOND-BLACKFAN ANEMIA 20; DBA20
HP:0000006HP:0000006Autosomal dominant inheritance0RPS17 CL E G H621810397OMIM:612527Diamond-Blackfan anemia 45
HP:0000006HP:0000006Autosomal dominant inheritance0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 1.42
HP:0000006HP:0000006Autosomal dominant inheritance0RPS23 CL E G H622810410OMIM:617412BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD2
HP:0000006HP:0000006Autosomal dominant inheritance0RPS24 CL E G H622910411OMIM:610629Diamond-Blackfan anemia 322
HP:0000006HP:0000006Autosomal dominant inheritance0RPS26 CL E G H623110414OMIM:613309Diamond-blackfan anemia 10.20
HP:0000006HP:0000006Autosomal dominant inheritance0RPS27 CL E G H623210416OMIM:617409DIAMOND-BLACKFAN ANEMIA 17; DBA171
HP:0000006HP:0000006Autosomal dominant inheritance0RPS28 CL E G H623410418OMIM:606164Diamond-Blackfan anemia 15 with mandibulofacial dysostosis.1
HP:0000006HP:0000006Autosomal dominant inheritance0RPS29 CL E G H623510419OMIM:615909Diamond-Blackfan anemia 13.3
HP:0000006HP:0000006Autosomal dominant inheritance0RPS7 CL E G H620110440OMIM:612563Diamond-Blackfan anemia 820
HP:0000006HP:0000006Autosomal dominant inheritance0RPSA CL E G H39216502OMIM:271400Asplenia, isolated congenital.9
HP:0000006HP:0000006Autosomal dominant inheritance0RRAS2 CL E G H2280017271OMIM:618624NOONAN SYNDROME 12; NS121
HP:0000006HP:0000006Autosomal dominant inheritance0RRM2B CL E G H5048417296OMIM:613077Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5.125
HP:0000006HP:0000006Autosomal dominant inheritance0RTEL1 CL E G H5175015888OMIM:615190Dyskeratosis congenita, autosomal recessive 5.77
HP:0000006HP:0000006Autosomal dominant inheritance0RTEL1 CL E G H5175015888OMIM:616373PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT377
HP:0000006HP:0000006Autosomal dominant inheritance0RTN2 CL E G H625310468OMIM:604805Spastic paraplegia 12, autosomal dominant.25
HP:0000006HP:0000006Autosomal dominant inheritance0RTN4R CL E G H6507818601OMIM:181500SCHIZOPHRENIA.2
HP:0000006HP:0000006Autosomal dominant inheritance0RUNX1 CL E G H86110471OMIM:601626Leukemia, acute myeloid.181
HP:0000006HP:0000006Autosomal dominant inheritance0RUNX1 CL E G H86110471OMIM:601399Platelet disorder, familial, with associated myeloid malignancy181
HP:0000006HP:0000006Autosomal dominant inheritance0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0000006HP:0000006Autosomal dominant inheritance0RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly.90
HP:0000006HP:0000006Autosomal dominant inheritance0RYR1 CL E G H626110483OMIM:117000Central core disease.1200
HP:0000006HP:0000006Autosomal dominant inheritance0RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0000006HP:0000006Autosomal dominant inheritance0RYR1 CL E G H626110483OMIM:145600Malignant hyperthermia, susceptibility to, 11200
HP:0000006HP:0000006Autosomal dominant inheritance0RYR1 CL E G H626110483OMIM:255310Myopathy, congenital, with fiber-type disproportion.1200
HP:0000006HP:0000006Autosomal dominant inheritance0RYR2 CL E G H626210484OMIM:600996Arrhythmogenic right ventricular dysplasia, familial, 2.1103
HP:0000006HP:0000006Autosomal dominant inheritance0RYR2 CL E G H626210484OMIM:115000CARDIAC ARRHYTHMIA1103
HP:0000006HP:0000006Autosomal dominant inheritance0RYR2 CL E G H626210484OMIM:604772VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT11103
HP:0000006HP:0000006Autosomal dominant inheritance0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1.124
HP:0000006HP:0000006Autosomal dominant inheritance0SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome86
HP:0000006HP:0000006Autosomal dominant inheritance0SALL4 CL E G H5716715924OMIM:147750Ivic syndrome86
HP:0000006HP:0000006Autosomal dominant inheritance0SAMD12 CL E G H40147431750OMIM:601068Epilepsy, familial adult myoclonic, 12
HP:0000006HP:0000006Autosomal dominant inheritance0SAMD9 CL E G H548091348OMIM:617053Mirage syndrome.8
HP:0000006HP:0000006Autosomal dominant inheritance0SAMD9 CL E G H548091348OMIM:619041MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS28
HP:0000006HP:0000006Autosomal dominant inheritance0SAMD9L CL E G H2192851349OMIM:159550Ataxia-Pancytopenia syndrome4
HP:0000006HP:0000006Autosomal dominant inheritance0SAMD9L CL E G H2192851349OMIM:619806SPINOCEREBELLAR ATAXIA 49; SCA494
HP:0000006HP:0000006Autosomal dominant inheritance0SAMHD1 CL E G H2593915925OMIM:614415Chilblain lupus 2.55
HP:0000006HP:0000006Autosomal dominant inheritance0SASH1 CL E G H2332819182OMIM:127500Dyschromatosis universalis hereditaria.1
HP:0000006HP:0000006Autosomal dominant inheritance0SATB1 CL E G H630410541OMIM:619228DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA
HP:0000006HP:0000006Autosomal dominant inheritance0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000006HP:0000006Autosomal dominant inheritance0SATB2 CL E G H2331421637OMIM:612313Glass syndrome.34
HP:0000006HP:0000006Autosomal dominant inheritance0SCD5 CL E G H7996621088OMIM:619086DEAFNESS, AUTOSOMAL DOMINANT 79; DFNA79
HP:0000006HP:0000006Autosomal dominant inheritance0SCGB3A2 CL E G H11715618391OMIM:600807Asthma, susceptibility to.1
HP:0000006HP:0000006Autosomal dominant inheritance0SCN10A CL E G H633610582OMIM:615551EPISODIC PAIN SYNDROME, FAMILIAL, 2; FEPS2146
HP:0000006HP:0000006Autosomal dominant inheritance0SCN11A CL E G H1128010583OMIM:615552Episodic pain syndrome, familial, 3.19
HP:0000006HP:0000006Autosomal dominant inheritance0SCN11A CL E G H1128010583OMIM:615548Neuropathy, hereditary sensory and autonomic, type VII.19
HP:0000006HP:0000006Autosomal dominant inheritance0SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0000006HP:0000006Autosomal dominant inheritance0SCN1A CL E G H632310585OMIM:607208Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)1053
HP:0000006HP:0000006Autosomal dominant inheritance0SCN1A CL E G H632310585OMIM:604403Generalized epilepsy with febrile seizures plus, type 2.1053
HP:0000006HP:0000006Autosomal dominant inheritance0SCN1A CL E G H632310585OMIM:609634Migraine, familial hemiplegic, 3.1053
HP:0000006HP:0000006Autosomal dominant inheritance0SCN1B CL E G H632410586OMIM:615377Atrial fibrillation, familial, 13.126
HP:0000006HP:0000006Autosomal dominant inheritance0SCN1B CL E G H632410586OMIM:612838BRUGADA SYNDROME 5; BRGDA5126
HP:0000006HP:0000006Autosomal dominant inheritance0SCN1B CL E G H632410586OMIM:604233Generalized epilepsy with febrile seizures plus, type 1.126
HP:0000006HP:0000006Autosomal dominant inheritance0SCN2A CL E G H632610588OMIM:613721Epileptic encephalopathy, early infantile, 11.427
HP:0000006HP:0000006Autosomal dominant inheritance0SCN2A CL E G H632610588OMIM:618924EPISODIC ATAXIA, TYPE 9; EA9427
HP:0000006HP:0000006Autosomal dominant inheritance0SCN2A CL E G H632610588OMIM:607745Seizures, benign familial infantile, 3.427
HP:0000006HP:0000006Autosomal dominant inheritance0SCN2B CL E G H632710589OMIM:615378Atrial fibrillation, familial, 1421
HP:0000006HP:0000006Autosomal dominant inheritance0SCN3A CL E G H632810590OMIM:617935Epilepsy, familial focal, with variable foci 4.70
HP:0000006HP:0000006Autosomal dominant inheritance0SCN3A CL E G H632810590OMIM:617938EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE6270
HP:0000006HP:0000006Autosomal dominant inheritance0SCN3B CL E G H5580020665OMIM:613120Brugada syndrome 7.122
HP:0000006HP:0000006Autosomal dominant inheritance0SCN4A CL E G H632910591OMIM:170500Hyperkalemic periodic paralysis.263
HP:0000006HP:0000006Autosomal dominant inheritance0SCN4A CL E G H632910591OMIM:170400Hypokalemic periodic paralysis, type 1.263
HP:0000006HP:0000006Autosomal dominant inheritance0SCN4A CL E G H632910591OMIM:613345Hypokalemic periodic paralysis, type 2.263
HP:0000006HP:0000006Autosomal dominant inheritance0SCN4A CL E G H632910591OMIM:608390Myotonia, potassium-aggravated.263
HP:0000006HP:0000006Autosomal dominant inheritance0SCN4A CL E G H632910591OMIM:168300Paramyotonia congenita of von eulenburg.263
HP:0000006HP:0000006Autosomal dominant inheritance0SCN4B CL E G H633010592OMIM:611819Long QT syndrome 10110
HP:0000006HP:0000006Autosomal dominant inheritance0SCN5A CL E G H633110593OMIM:614022Atrial fibrillation, familial, 10.1134
HP:0000006HP:0000006Autosomal dominant inheritance0SCN5A CL E G H633110593OMIM:601144BRUGADA SYNDROME 1; BRGDA11134
HP:0000006HP:0000006Autosomal dominant inheritance0SCN5A CL E G H633110593OMIM:601154Cardiomyopathy, dilated, 1E.1134
HP:0000006HP:0000006Autosomal dominant inheritance0SCN5A CL E G H633110593OMIM:603830Long QT syndrome 3.1134
HP:0000006HP:0000006Autosomal dominant inheritance0SCN5A CL E G H633110593OMIM:113900Progressive familial heart block, type IA.1134
HP:0000006HP:0000006Autosomal dominant inheritance0SCN8A CL E G H633410596OMIM:614306Cognitive impairment with or without cerebellar ataxia.357
HP:0000006HP:0000006Autosomal dominant inheritance0SCN8A CL E G H633410596OMIM:614558Epileptic encephalopathy, early infantile, 13.357
HP:0000006HP:0000006Autosomal dominant inheritance0SCN8A CL E G H633410596OMIM:618364MYOCLONUS, FAMILIAL, 2; MYOCL2357
HP:0000006HP:0000006Autosomal dominant inheritance0SCN8A CL E G H633410596OMIM:617080Seizures, benign familial infantile, 5.357
HP:0000006HP:0000006Autosomal dominant inheritance0SCN9A CL E G H633510597OMIM:133020Erythermalgia, primary.318
HP:0000006HP:0000006Autosomal dominant inheritance0SCN9A CL E G H633510597OMIM:167400Paroxysmal extreme pain disorder.318
HP:0000006HP:0000006Autosomal dominant inheritance0SCNN1A CL E G H633710599OMIM:613021Bronchiectasis with or without elevated sweat chloride 2.67
HP:0000006HP:0000006Autosomal dominant inheritance0SCNN1A CL E G H633710599OMIM:618126Liddle syndrome 3.67
HP:0000006HP:0000006Autosomal dominant inheritance0SCNN1B CL E G H633810600OMIM:211400Bronchiectasis with or without elevated sweat chloride 1.61
HP:0000006HP:0000006Autosomal dominant inheritance0SCNN1B CL E G H633810600OMIM:177200Liddle syndrome 1.61
HP:0000006HP:0000006Autosomal dominant inheritance0SCNN1G CL E G H634010602OMIM:613071Bronchiectasis with or without elevated sweat chloride 3.57
HP:0000006HP:0000006Autosomal dominant inheritance0SCNN1G CL E G H634010602OMIM:618114Liddle syndrome 2.57
HP:0000006HP:0000006Autosomal dominant inheritance0SCO2 CL E G H999710604OMIM:608908Myopia 6.40
HP:0000006HP:0000006Autosomal dominant inheritance0SDC3 CL E G H967210660OMIM:601665OBESITY.2
HP:0000006HP:0000006Autosomal dominant inheritance0SDHA CL E G H638910680OMIM:619259NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA304
HP:0000006HP:0000006Autosomal dominant inheritance0SDHA CL E G H638910680OMIM:614165PARAGANGLIOMAS 5; PGL5304
HP:0000006HP:0000006Autosomal dominant inheritance0SDHAF2 CL E G H5494926034OMIM:601650Paragangliomas 2.55
HP:0000006HP:0000006Autosomal dominant inheritance0SDHB CL E G H639010681OMIM:606764Gastrointestinal stromal tumor.237
HP:0000006HP:0000006Autosomal dominant inheritance0SDHB CL E G H639010681OMIM:115310Paragangliomas 4.237
HP:0000006HP:0000006Autosomal dominant inheritance0SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA.237
HP:0000006HP:0000006Autosomal dominant inheritance0SDHC CL E G H639110682OMIM:606764Gastrointestinal stromal tumor.147
HP:0000006HP:0000006Autosomal dominant inheritance0SDHC CL E G H639110682OMIM:605373Paragangliomas 3.147
HP:0000006HP:0000006Autosomal dominant inheritance0SDHD CL E G H639210683OMIM:168000Paragangliomas 1.129
HP:0000006HP:0000006Autosomal dominant inheritance0SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA.129
HP:0000006HP:0000006Autosomal dominant inheritance0SEC23B CL E G H1048310702OMIM:616858Cowden syndrome 760
HP:0000006HP:0000006Autosomal dominant inheritance0SEC61A1 CL E G H2992718276OMIM:617056Tubulointerstitial kidney disease, autosomal dominant, 5.2
HP:0000006HP:0000006Autosomal dominant inheritance0SEC63 CL E G H1123121082OMIM:617004Polycystic liver disease 2.137
HP:0000006HP:0000006Autosomal dominant inheritance0SELENON CL E G H5719015999OMIM:255310Myopathy, congenital, with fiber-type disproportion.144
HP:0000006HP:0000006Autosomal dominant inheritance0SEMA3A CL E G H1037110723OMIM:614897Hypogonadotropic hypogonadism 16 with or without anosmia.14
HP:0000006HP:0000006Autosomal dominant inheritance0SEMA4A CL E G H6421810729OMIM:610282Retinitis pigmentosa 35.48
HP:0000006HP:0000006Autosomal dominant inheritance0SEMA6B CL E G H1050110739OMIM:618876EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0000006HP:0000006Autosomal dominant inheritance0SEPTIN12 CL E G H12440426348OMIM:614822Spermatogenic failure 10.
HP:0000006HP:0000006Autosomal dominant inheritance0SEPTIN9 CL E G H108017323OMIM:162100Amyotrophy, hereditary neuralgic
HP:0000006HP:0000006Autosomal dominant inheritance0SERPINA6 CL E G H8661540OMIM:611489Corticosteroid-binding globulin deficiency.4
HP:0000006HP:0000006Autosomal dominant inheritance0SERPINC1 CL E G H462775OMIM:613118Antithrombin III deficiency.88
HP:0000006HP:0000006Autosomal dominant inheritance0SERPIND1 CL E G H30534838OMIM:612356Heparin cofactor II deficiency.5
HP:0000006HP:0000006Autosomal dominant inheritance0SERPINE1 CL E G H50548583OMIM:613329Plasminogen activator inhibitor-1 deficiency.39
HP:0000006HP:0000006Autosomal dominant inheritance0SERPING1 CL E G H7101228OMIM:106100Angioedema, hereditary, 1.64
HP:0000006HP:0000006Autosomal dominant inheritance0SERPING1 CL E G H7101228OMIM:120790Complement component 4, partial deficiency of.64
HP:0000006HP:0000006Autosomal dominant inheritance0SERPINI1 CL E G H52748943OMIM:604218Encephalopathy, familial, with neuroserpin inclusion bodies.28
HP:0000006HP:0000006Autosomal dominant inheritance0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 58.1
HP:0000006HP:0000006Autosomal dominant inheritance0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29.143
HP:0000006HP:0000006Autosomal dominant inheritance0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0000006HP:0000006Autosomal dominant inheritance0SETD1A CL E G H973929010OMIM:618832EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD6
HP:0000006HP:0000006Autosomal dominant inheritance0SETD1A CL E G H973929010OMIM:619056NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID6
HP:0000006HP:0000006Autosomal dominant inheritance0SETD1B CL E G H2306729187OMIM:619000INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0000006HP:0000006Autosomal dominant inheritance0SETD2 CL E G H2907218420OMIM:616831Luscan-Lumish syndrome60
HP:0000006HP:0000006Autosomal dominant inheritance0SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0000006HP:0000006Autosomal dominant inheritance0SETX CL E G H23064445OMIM:602433Amyotrophic lateral sclerosis 4, juvenile.162
HP:0000006HP:0000006Autosomal dominant inheritance0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia.2
HP:0000006HP:0000006Autosomal dominant inheritance0SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type.49
HP:0000006HP:0000006Autosomal dominant inheritance0SFTPA1 CL E G H65350910798OMIM:619611INTERSTITIAL LUNG DISEASE 1; ILD119
HP:0000006HP:0000006Autosomal dominant inheritance0SFTPA2 CL E G H72923810799OMIM:178500Pulmonary fibrosis, idiopathic10
HP:0000006HP:0000006Autosomal dominant inheritance0SFTPC CL E G H644010802OMIM:178500Pulmonary fibrosis, idiopathic33
HP:0000006HP:0000006Autosomal dominant inheritance0SFTPC CL E G H644010802OMIM:610913Surfactant metabolism dysfunction, pulmonary, 233
HP:0000006HP:0000006Autosomal dominant inheritance0SGCD CL E G H644410807OMIM:606685CARDIOMYOPATHY, DILATED, 1L; CMD1L223
HP:0000006HP:0000006Autosomal dominant inheritance0SGCE CL E G H891010808OMIM:159900Dystonia 11, myoclonic.49
HP:0000006HP:0000006Autosomal dominant inheritance0SGMS2 CL E G H16692928395OMIM:126550Calvarial doughnut lesions with bone fragility
HP:0000006HP:0000006Autosomal dominant inheritance0SH2B3 CL E G H1001929605OMIM:133100Erythrocytosis, familial, 1.4
HP:0000006HP:0000006Autosomal dominant inheritance0SH2B3 CL E G H1001929605OMIM:187950THROMBOCYTHEMIA 1; THCYT14
HP:0000006HP:0000006Autosomal dominant inheritance0SH3BP2 CL E G H645210825OMIM:118400Cherubism177
HP:0000006HP:0000006Autosomal dominant inheritance0SH3GL1 CL E G H645510830OMIM:601626Leukemia, acute myeloid.
HP:0000006HP:0000006Autosomal dominant inheritance0SH3TC2 CL E G H7962829427OMIM:613353Mononeuropathy of the median nerve, mild.493
HP:0000006HP:0000006Autosomal dominant inheritance0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0000006HP:0000006Autosomal dominant inheritance0SHANK3 CL E G H8535814294OMIM:613950Schizophrenia 15.53
HP:0000006HP:0000006Autosomal dominant inheritance0SHH CL E G H646910848OMIM:142945Holoprosencephaly 3.67
HP:0000006HP:0000006Autosomal dominant inheritance0SHH CL E G H646910848OMIM:611638Microphthalmia, isolated, with coloboma 567
HP:0000006HP:0000006Autosomal dominant inheritance0SHH CL E G H646910848OMIM:147250Solitary median maxillary central incisor.67
HP:0000006HP:0000006Autosomal dominant inheritance0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0000006HP:0000006Autosomal dominant inheritance0SHOX CL E G H647310853OMIM:127300Leri-Weill dyschondrosteosis.66
HP:0000006HP:0000006Autosomal dominant inheritance0SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0000006HP:0000006Autosomal dominant inheritance0SIK1 CL E G H15009411142OMIM:616341Deafness, autosomal dominant 67.11
HP:0000006HP:0000006Autosomal dominant inheritance0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome.9
HP:0000006HP:0000006Autosomal dominant inheritance0SIX1 CL E G H649510887OMIM:608389Branchiootic syndrome 350
HP:0000006HP:0000006Autosomal dominant inheritance0SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 1.50
HP:0000006HP:0000006Autosomal dominant inheritance0SIX1 CL E G H649510887OMIM:605192Deafness, autosomal dominant 2350
HP:0000006HP:0000006Autosomal dominant inheritance0SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 2.32
HP:0000006HP:0000006Autosomal dominant inheritance0SIX5 CL E G H14791210891OMIM:610896Branchiootorenal syndrome 2.10
HP:0000006HP:0000006Autosomal dominant inheritance0SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 3.20
HP:0000006HP:0000006Autosomal dominant inheritance0SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome.150
HP:0000006HP:0000006Autosomal dominant inheritance0SLC12A2 CL E G H655810911OMIM:619081DEAFNESS, AUTOSOMAL DOMINANT 78; DFNA782
HP:0000006HP:0000006Autosomal dominant inheritance0SLC12A2 CL E G H655810911OMIM:619083DELPIRE-MCNEILL SYNDROME; DELMNES2
HP:0000006HP:0000006Autosomal dominant inheritance0SLC12A5 CL E G H5746813818OMIM:616685Epilepsy, idiopathic generalized, susceptibility to, 14.8
HP:0000006HP:0000006Autosomal dominant inheritance0SLC12A6 CL E G H999010914OMIM:620068163
HP:0000006HP:0000006Autosomal dominant inheritance0SLC16A1 CL E G H656610922OMIM:245340Erythrocyte lactate transporter defect.74
HP:0000006HP:0000006Autosomal dominant inheritance0SLC16A1 CL E G H656610922OMIM:610021HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF774
HP:0000006HP:0000006Autosomal dominant inheritance0SLC16A1 CL E G H656610922OMIM:616095Monocarboxylate transporter 1 deficiency.74
HP:0000006HP:0000006Autosomal dominant inheritance0SLC16A12 CL E G H38770023094OMIM:612018CATARACT 47; CTRCT475
HP:0000006HP:0000006Autosomal dominant inheritance0SLC17A8 CL E G H24621320151OMIM:605583DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA2564
HP:0000006HP:0000006Autosomal dominant inheritance0SLC17A9 CL E G H6391016192OMIM:616063Porokeratosis 8, disseminated superficial Actinic type.3
HP:0000006HP:0000006Autosomal dominant inheritance0SLC1A2 CL E G H650610940OMIM:617105Epileptic encephalopathy, early infantile, 41.3
HP:0000006HP:0000006Autosomal dominant inheritance0SLC1A3 CL E G H650710941OMIM:612656Episodic ataxia, type 6.63
HP:0000006HP:0000006Autosomal dominant inheritance0SLC20A2 CL E G H657510947OMIM:213600Basal ganglia calcification, idiopathic, 1.70
HP:0000006HP:0000006Autosomal dominant inheritance0SLC22A18 CL E G H500210964OMIM:114480Breast cancer.3
HP:0000006HP:0000006Autosomal dominant inheritance0SLC22A18 CL E G H500210964OMIM:211980Lung cancer, susceptibility to.3
HP:0000006HP:0000006Autosomal dominant inheritance0SLC25A11 CL E G H840210981OMIM:618464PARAGANGLIOMAS 6; PGL6
HP:0000006HP:0000006Autosomal dominant inheritance0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0000006HP:0000006Autosomal dominant inheritance0SLC25A4 CL E G H29110990OMIM:617184Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant.68
HP:0000006HP:0000006Autosomal dominant inheritance0SLC25A4 CL E G H29110990OMIM:609283Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2.68
HP:0000006HP:0000006Autosomal dominant inheritance0SLC26A8 CL E G H11636914468OMIM:606766Spermatogenic failure 3.3
HP:0000006HP:0000006Autosomal dominant inheritance0SLC2A1 CL E G H651311005OMIM:601042Dystonia 9.255
HP:0000006HP:0000006Autosomal dominant inheritance0SLC2A1 CL E G H651311005OMIM:614847Epilepsy, idiopathic generalized, susceptibility to, 12.255
HP:0000006HP:0000006Autosomal dominant inheritance0SLC2A1 CL E G H651311005OMIM:606777Glut1 deficiency syndrome 1.255
HP:0000006HP:0000006Autosomal dominant inheritance0SLC2A1 CL E G H651311005OMIM:612126Glut1 deficiency syndrome 2.255
HP:0000006HP:0000006Autosomal dominant inheritance0SLC2A1 CL E G H651311005OMIM:608885Stomatin-Deficient cryohydrocytosis with neurologic defects.255
HP:0000006HP:0000006Autosomal dominant inheritance0SLC2A2 CL E G H651411006OMIM:125853Diabetes mellitus, noninsulin-dependent.71
HP:0000006HP:0000006Autosomal dominant inheritance0SLC2A9 CL E G H5660613446OMIM:612076Hypouricemia, renal, 257
HP:0000006HP:0000006Autosomal dominant inheritance0SLC30A2 CL E G H778011013OMIM:608118Zinc deficiency, transient neonatal3
HP:0000006HP:0000006Autosomal dominant inheritance0SLC30A8 CL E G H16902620303OMIM:125853Diabetes mellitus, noninsulin-dependent.3
HP:0000006HP:0000006Autosomal dominant inheritance0SLC33A1 CL E G H919795OMIM:612539Spastic paraplegia 42, autosomal dominant.48
HP:0000006HP:0000006Autosomal dominant inheritance0SLC34A1 CL E G H656911019OMIM:612286Nephrolithiasis/osteoporosis, hypophosphatemic, 1.47
HP:0000006HP:0000006Autosomal dominant inheritance0SLC36A2 CL E G H15320118762OMIM:138500Glycinuria with or without oxalate urolithiasis.2
HP:0000006HP:0000006Autosomal dominant inheritance0SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0000006HP:0000006Autosomal dominant inheritance0SLC39A14 CL E G H2351620858OMIM:144755Hyperostosis cranialis interna.5
HP:0000006HP:0000006Autosomal dominant inheritance0SLC39A5 CL E G H28337520502OMIM:615946Myopia 24, autosomal dominant.2
HP:0000006HP:0000006Autosomal dominant inheritance0SLC3A1 CL E G H651911025OMIM:220100CYSTINURIA.55
HP:0000006HP:0000006Autosomal dominant inheritance0SLC40A1 CL E G H3006110909OMIM:606069Hemochromatosis, type 456
HP:0000006HP:0000006Autosomal dominant inheritance0SLC44A4 CL E G H8073613941OMIM:617606Deafness, autosomal dominant 72.1
HP:0000006HP:0000006Autosomal dominant inheritance0SLC4A1 CL E G H652111027OMIM:185020CRYOHYDROCYTOSIS.109
HP:0000006HP:0000006Autosomal dominant inheritance0SLC4A1 CL E G H652111027OMIM:166900Ovalocytosis, hereditary hemolytic.109
HP:0000006HP:0000006Autosomal dominant inheritance0SLC4A1 CL E G H652111027OMIM:179800Renal tubular acidosis, distal, autosomal dominant.109
HP:0000006HP:0000006Autosomal dominant inheritance0SLC4A1 CL E G H652111027OMIM:612653Spherocytosis, type 4.109
HP:0000006HP:0000006Autosomal dominant inheritance0SLC4A11 CL E G H8395916438OMIM:613268CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD466
HP:0000006HP:0000006Autosomal dominant inheritance0SLC52A1 CL E G H5506530225OMIM:615026Riboflavin deficiency.3
HP:0000006HP:0000006Autosomal dominant inheritance0SLC5A2 CL E G H652411037OMIM:233100Renal glucosuria.41
HP:0000006HP:0000006Autosomal dominant inheritance0SLC5A7 CL E G H6048214025OMIM:158580Neuronopathy, distal hereditary motor, type VIIA.9
HP:0000006HP:0000006Autosomal dominant inheritance0SLC6A1 CL E G H652911042OMIM:616421Myoclonic-Atonic epilepsy.29
HP:0000006HP:0000006Autosomal dominant inheritance0SLC6A19 CL E G H34002427960OMIM:138500Glycinuria with or without oxalate urolithiasis.12
HP:0000006HP:0000006Autosomal dominant inheritance0SLC6A2 CL E G H653011048OMIM:604715ORTHOSTATIC INTOLERANCE60
HP:0000006HP:0000006Autosomal dominant inheritance0SLC6A20 CL E G H5471630927OMIM:138500Glycinuria with or without oxalate urolithiasis.96
HP:0000006HP:0000006Autosomal dominant inheritance0SLC6A4 CL E G H653211050OMIM:164230Obsessive-Compulsive disorder 1.52
HP:0000006HP:0000006Autosomal dominant inheritance0SLC6A5 CL E G H915211051OMIM:614618Hyperekplexia 3.81
HP:0000006HP:0000006Autosomal dominant inheritance0SLC6A6 CL E G H653311052OMIM:145350Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0000006HP:0000006Autosomal dominant inheritance0SLC7A9 CL E G H1113611067OMIM:220100CYSTINURIA.58
HP:0000006HP:0000006Autosomal dominant inheritance0SLCO2A1 CL E G H657810955OMIM:167100Hypertrophic osteoarthropathy, primary, autosomal dominant.13
HP:0000006HP:0000006Autosomal dominant inheritance0SLFN14 CL E G H34261832689OMIM:616913Bleeding disorder, platelet-type, 20.6
HP:0000006HP:0000006Autosomal dominant inheritance0SLITRK1 CL E G H11479820297OMIM:137580Gilles de la tourette syndrome.58
HP:0000006HP:0000006Autosomal dominant inheritance0SLITRK1 CL E G H11479820297OMIM:613229TRICHOTILLOMANIA.58
HP:0000006HP:0000006Autosomal dominant inheritance0SMAD2 CL E G H40876768OMIM:619656LOEYS-DIETZ SYNDROME 6; LDS67
HP:0000006HP:0000006Autosomal dominant inheritance0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0000006HP:0000006Autosomal dominant inheritance0SMAD4 CL E G H40896770OMIM:174900Juvenile polyposis syndrome.504
HP:0000006HP:0000006Autosomal dominant inheritance0SMAD4 CL E G H40896770OMIM:175050Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome.504
HP:0000006HP:0000006Autosomal dominant inheritance0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome504
HP:0000006HP:0000006Autosomal dominant inheritance0SMAD4 CL E G H40896770OMIM:260350Pancreatic cancer.504
HP:0000006HP:0000006Autosomal dominant inheritance0SMAD6 CL E G H40916772OMIM:614823Aortic valve disease 2.33
HP:0000006HP:0000006Autosomal dominant inheritance0SMAD6 CL E G H40916772OMIM:617439Craniosynostosis 7.33
HP:0000006HP:0000006Autosomal dominant inheritance0SMAD9 CL E G H40936774OMIM:615342Pulmonary hypertension, primary, 2.132
HP:0000006HP:0000006Autosomal dominant inheritance0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0000006HP:0000006Autosomal dominant inheritance0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome.146
HP:0000006HP:0000006Autosomal dominant inheritance0SMARCA4 CL E G H659711100OMIM:614609Coffin-Siris syndrome 4.617
HP:0000006HP:0000006Autosomal dominant inheritance0SMARCA4 CL E G H659711100OMIM:613325Rhabdoid tumor predisposition syndrome 2.617
HP:0000006HP:0000006Autosomal dominant inheritance0SMARCAD1 CL E G H5691618398OMIM:129200Basan syndrome6
HP:0000006HP:0000006Autosomal dominant inheritance0SMARCAD1 CL E G H5691618398OMIM:136000Fingerprints, absence of.6
HP:0000006HP:0000006Autosomal dominant inheritance0SMARCAD1 CL E G H5691618398OMIM:181600Huriez syndrome6
HP:0000006HP:0000006Autosomal dominant inheritance0SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 3.87
HP:0000006HP:0000006Autosomal dominant inheritance0SMARCB1 CL E G H659811103OMIM:609322Rhabdoid tumor predisposition syndrome 1.87
HP:0000006HP:0000006Autosomal dominant inheritance0SMARCB1 CL E G H659811103OMIM:162091SCHWANNOMATOSIS.87
HP:0000006HP:0000006Autosomal dominant inheritance0SMARCC2 CL E G H660111105OMIM:618362Coffin-Siris syndrome 8.1
HP:0000006HP:0000006Autosomal dominant inheritance0SMARCD1 CL E G H660211106OMIM:618779COFFIN-SIRIS SYNDROME 11; CSS11
HP:0000006HP:0000006Autosomal dominant inheritance0SMARCE1 CL E G H660511109OMIM:616938Coffin-Siris syndrome 547
HP:0000006HP:0000006Autosomal dominant inheritance0SMARCE1 CL E G H660511109OMIM:607174Meningioma, familial, susceptibility to.47
HP:0000006HP:0000006Autosomal dominant inheritance0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0000006HP:0000006Autosomal dominant inheritance0SMCHD1 CL E G H2334729090OMIM:603457Bosma arhinia microphthalmia syndrome174
HP:0000006HP:0000006Autosomal dominant inheritance0SNAI2 CL E G H659111094OMIM:172800Piebald trait.19
HP:0000006HP:0000006Autosomal dominant inheritance0SNAP25 CL E G H661611132OMIM:616330Myasthenic syndrome, congenital, 18.2
HP:0000006HP:0000006Autosomal dominant inheritance0SNCA CL E G H662211138OMIM:127750Dementia, lewy body.65
HP:0000006HP:0000006Autosomal dominant inheritance0SNCA CL E G H662211138OMIM:168601Parkinson disease 1, autosomal dominant.65
HP:0000006HP:0000006Autosomal dominant inheritance0SNCA CL E G H662211138OMIM:605543Parkinson disease 465
HP:0000006HP:0000006Autosomal dominant inheritance0SNCAIP CL E G H962711139OMIM:168600Parkinson disease, late-onset.35
HP:0000006HP:0000006Autosomal dominant inheritance0SNCB CL E G H662011140OMIM:127750Dementia, lewy body.2
HP:0000006HP:0000006Autosomal dominant inheritance0SNORA31 CL E G H67781432621OMIM:619396ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 10; IIAE10
HP:0000006HP:0000006Autosomal dominant inheritance0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome.
HP:0000006HP:0000006Autosomal dominant inheritance0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome.
HP:0000006HP:0000006Autosomal dominant inheritance0SNRNP200 CL E G H2302030859OMIM:610359Retinitis pigmentosa 3383
HP:0000006HP:0000006Autosomal dominant inheritance0SNRPB CL E G H662811153OMIM:117650Cerebrocostomandibular syndrome.6
HP:0000006HP:0000006Autosomal dominant inheritance0SNRPE CL E G H663511161OMIM:615059Hypotrichosis 11.2
HP:0000006HP:0000006Autosomal dominant inheritance0SNRPN CL E G H663811164OMIM:105830Angelman syndrome.37
HP:0000006HP:0000006Autosomal dominant inheritance0SNTA1 CL E G H664011167OMIM:612955Long QT syndrome 12118
HP:0000006HP:0000006Autosomal dominant inheritance0SOCS1 CL E G H865119383OMIM:619375AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD6
HP:0000006HP:0000006Autosomal dominant inheritance0SOD1 CL E G H664711179OMIM:105400Amyotrophic lateral sclerosis 153
HP:0000006HP:0000006Autosomal dominant inheritance0SOHLH1 CL E G H40238127845OMIM:618115Spermatogenic failure 32.3
HP:0000006HP:0000006Autosomal dominant inheritance0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0000006HP:0000006Autosomal dominant inheritance0SOS1 CL E G H665411187OMIM:135300Fibromatosis, gingival, 1.315
HP:0000006HP:0000006Autosomal dominant inheritance0SOS1 CL E G H665411187OMIM:610733Noonan syndrome 4315
HP:0000006HP:0000006Autosomal dominant inheritance0SOS2 CL E G H665511188OMIM:616559NOONAN SYNDROME 9; NS930
HP:0000006HP:0000006Autosomal dominant inheritance0SOST CL E G H5096413771OMIM:122860Craniodiaphyseal dysplasia, autosomal dominant.26
HP:0000006HP:0000006Autosomal dominant inheritance0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease.61
HP:0000006HP:0000006Autosomal dominant inheritance0SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E.61
HP:0000006HP:0000006Autosomal dominant inheritance0SOX10 CL E G H666311190OMIM:613266Waardenburg syndrome, type 4C.61
HP:0000006HP:0000006Autosomal dominant inheritance0SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 27.14
HP:0000006HP:0000006Autosomal dominant inheritance0SOX17 CL E G H6432118122OMIM:613674Vesicoureteral reflux 3.3
HP:0000006HP:0000006Autosomal dominant inheritance0SOX18 CL E G H5434511194OMIM:137940Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome.7
HP:0000006HP:0000006Autosomal dominant inheritance0SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 3.33
HP:0000006HP:0000006Autosomal dominant inheritance0SOX4 CL E G H665911200OMIM:618506Coffin-Siris syndrome 10.
HP:0000006HP:0000006Autosomal dominant inheritance0SOX5 CL E G H666011201OMIM:616803Lamb-Shaffer syndrome11
HP:0000006HP:0000006Autosomal dominant inheritance0SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0000006HP:0000006Autosomal dominant inheritance0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia.109
HP:0000006HP:0000006Autosomal dominant inheritance0SP6 CL E G H8032014530OMIM:620104
HP:0000006HP:0000006Autosomal dominant inheritance0SPAST CL E G H668311233OMIM:182601Spastic paraplegia 4, autosomal dominant.208
HP:0000006HP:0000006Autosomal dominant inheritance0SPECC1L CL E G H2338429022OMIM:600251Facial clefting, oblique, 1.6
HP:0000006HP:0000006Autosomal dominant inheritance0SPECC1L CL E G H2338429022OMIM:145420Hypertelorism, Teebi type.6
HP:0000006HP:0000006Autosomal dominant inheritance0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000006HP:0000006Autosomal dominant inheritance0SPG7 CL E G H668711237OMIM:607259Spastic paraplegia 7, autosomal recessive.171
HP:0000006HP:0000006Autosomal dominant inheritance0SPI1 CL E G H668811241OMIM:619707AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0000006HP:0000006Autosomal dominant inheritance0SPINK1 CL E G H669011244OMIM:167800Pancreatitis, hereditary.34
HP:0000006HP:0000006Autosomal dominant inheritance0SPINK1 CL E G H669011244OMIM:608189Tropical calcific pancreatitis.34
HP:0000006HP:0000006Autosomal dominant inheritance0SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0000006HP:0000006Autosomal dominant inheritance0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0000006HP:0000006Autosomal dominant inheritance0SPR CL E G H669711257OMIM:612716Dystonia, dopa-responsive, due to sepiapterin reductase deficiency28
HP:0000006HP:0000006Autosomal dominant inheritance0SPRED1 CL E G H16174220249OMIM:611431Legius syndrome.136
HP:0000006HP:0000006Autosomal dominant inheritance0SPRY2 CL E G H1025311270OMIM:616818Iga nephropathy, susceptibility to, 31
HP:0000006HP:0000006Autosomal dominant inheritance0SPRY4 CL E G H8184815533OMIM:615266Hypogonadotropic hypogonadism 17 with or without anosmia.5
HP:0000006HP:0000006Autosomal dominant inheritance0SPTA1 CL E G H670811272OMIM:130600Elliptocytosis 2228
HP:0000006HP:0000006Autosomal dominant inheritance0SPTAN1 CL E G H670911273OMIM:613477Epileptic encephalopathy, early infantile, 5.416
HP:0000006HP:0000006Autosomal dominant inheritance0SPTB CL E G H671011274OMIM:617948ELLIPTOCYTOSIS 3; EL3156
HP:0000006HP:0000006Autosomal dominant inheritance0SPTB CL E G H671011274OMIM:616649SPHEROCYTOSIS, TYPE 2; SPH2156
HP:0000006HP:0000006Autosomal dominant inheritance0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000006HP:0000006Autosomal dominant inheritance0SPTBN2 CL E G H671211276OMIM:600224Spinocerebellar ataxia 5.126
HP:0000006HP:0000006Autosomal dominant inheritance0SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA.54
HP:0000006HP:0000006Autosomal dominant inheritance0SPTLC2 CL E G H951711278OMIM:613640Neuropathy, hereditary sensory and autonomic, type IC.149
HP:0000006HP:0000006Autosomal dominant inheritance0SQSTM1 CL E G H887811280OMIM:616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3.62
HP:0000006HP:0000006Autosomal dominant inheritance0SQSTM1 CL E G H887811280OMIM:617158MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV62
HP:0000006HP:0000006Autosomal dominant inheritance0SQSTM1 CL E G H887811280OMIM:167250Paget disease of bone 3.62
HP:0000006HP:0000006Autosomal dominant inheritance0SRC CL E G H671411283OMIM:114500Colorectal cancer.15
HP:0000006HP:0000006Autosomal dominant inheritance0SRC CL E G H671411283OMIM:616937Thrombocytopenia 615
HP:0000006HP:0000006Autosomal dominant inheritance0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome.138
HP:0000006HP:0000006Autosomal dominant inheritance0SREBF1 CL E G H672011289OMIM:619016IFAP SYNDROME 2; IFAP21
HP:0000006HP:0000006Autosomal dominant inheritance0SREBF1 CL E G H672011289OMIM:158310Mucoepithelial dysplasia, hereditary.1
HP:0000006HP:0000006Autosomal dominant inheritance0SRGAP1 CL E G H5752217382OMIM:188470Thyroid cancer, nonmedullary, 23
HP:0000006HP:0000006Autosomal dominant inheritance0SRP54 CL E G H672911301OMIM:618752NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0000006HP:0000006Autosomal dominant inheritance0SRP72 CL E G H673111303OMIM:614675Bone marrow failure syndrome 1.68
HP:0000006HP:0000006Autosomal dominant inheritance0SRPX2 CL E G H2728630668OMIM:300643Rolandic epilepsy, mental retardation, and speech dyspraxia50
HP:0000006HP:0000006Autosomal dominant inheritance0SSBP1 CL E G H674211317OMIM:165510Optic atrophy with negative electroretinograms.
HP:0000006HP:0000006Autosomal dominant inheritance0STAG1 CL E G H1027411354OMIM:617635Mental retardation, autosomal dominant 47.9
HP:0000006HP:0000006Autosomal dominant inheritance0STARD7 CL E G H5691018063OMIM:607876Epilepsy, familial adult myoclonic, 2
HP:0000006HP:0000006Autosomal dominant inheritance0STAT1 CL E G H677211362OMIM:614892Immunodeficiency 31A.89
HP:0000006HP:0000006Autosomal dominant inheritance0STAT1 CL E G H677211362OMIM:614162Immunodeficiency 31C.89
HP:0000006HP:0000006Autosomal dominant inheritance0STAT3 CL E G H677411364OMIM:615952AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1110
HP:0000006HP:0000006Autosomal dominant inheritance0STAT3 CL E G H677411364OMIM:147060Hyper-IgE recurrent infection syndrome110
HP:0000006HP:0000006Autosomal dominant inheritance0STAT5B CL E G H677711367OMIM:618985GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID212
HP:0000006HP:0000006Autosomal dominant inheritance0STEAP3 CL E G H5524024592OMIM:615234Anemia, hypochromic microcytic, with iron overload 2.1
HP:0000006HP:0000006Autosomal dominant inheritance0STIM1 CL E G H678611386OMIM:160565Myopathy, tubular aggregate, 1.31
HP:0000006HP:0000006Autosomal dominant inheritance0STIM1 CL E G H678611386OMIM:185070Stormorken syndrome.31
HP:0000006HP:0000006Autosomal dominant inheritance0STING1 CL E G H34006127962OMIM:615934STING-associated vasculopathy, infantile-onset
HP:0000006HP:0000006Autosomal dominant inheritance0STK11 CL E G H679411389OMIM:155600Melanoma, cutaneous malignant.740
HP:0000006HP:0000006Autosomal dominant inheritance0STK11 CL E G H679411389OMIM:260350Pancreatic cancer.740
HP:0000006HP:0000006Autosomal dominant inheritance0STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome740
HP:0000006HP:0000006Autosomal dominant inheritance0STT3A CL E G H37036172OMIM:619714CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD21
HP:0000006HP:0000006Autosomal dominant inheritance0STUB1 CL E G H1027311427OMIM:618093SPINOCEREBELLAR ATAXIA 48; SCA4814
HP:0000006HP:0000006Autosomal dominant inheritance0STX16 CL E G H867511431OMIM:603233Pseudohypoparathyroidism, type IB86
HP:0000006HP:0000006Autosomal dominant inheritance0STX1B CL E G H11275518539OMIM:616172Generalized epilepsy with febrile seizures plus, type 9.9
HP:0000006HP:0000006Autosomal dominant inheritance0STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4.237
HP:0000006HP:0000006Autosomal dominant inheritance0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome.124
HP:0000006HP:0000006Autosomal dominant inheritance0SUFU CL E G H5168416466OMIM:155255MEDULLOBLASTOMA.124
HP:0000006HP:0000006Autosomal dominant inheritance0SUFU CL E G H5168416466OMIM:607174Meningioma, familial, susceptibility to.124
HP:0000006HP:0000006Autosomal dominant inheritance0SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000006HP:0000006Autosomal dominant inheritance0SUZ12 CL E G H2351217101OMIM:618786IMAGAWA-MATSUMOTO SYNDROME; IMMAS1
HP:0000006HP:0000006Autosomal dominant inheritance0SYCP3 CL E G H5051118130OMIM:270960Spermatogenic failure 4.12
HP:0000006HP:0000006Autosomal dominant inheritance0SYK CL E G H685011491OMIM:619381IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD821
HP:0000006HP:0000006Autosomal dominant inheritance0SYN2 CL E G H685411495OMIM:181500SCHIZOPHRENIA.3
HP:0000006HP:0000006Autosomal dominant inheritance0SYNE1 CL E G H2334517089OMIM:612998Emery-Dreifuss muscular dystrophy 4, autosomal dominant.1129
HP:0000006HP:0000006Autosomal dominant inheritance0SYNE2 CL E G H2322417084OMIM:612999Emery-Dreifuss muscular dystrophy 5, autosomal dominant.508
HP:0000006HP:0000006Autosomal dominant inheritance0SYNGAP1 CL E G H883111497OMIM:612621Mental retardation, autosomal dominant 5.108
HP:0000006HP:0000006Autosomal dominant inheritance0SYT1 CL E G H685711509OMIM:618218Baker-Gordon syndrome.1
HP:0000006HP:0000006Autosomal dominant inheritance0SYT2 CL E G H12783311510OMIM:616040Myasthenic syndrome, congenital, 7, presynaptic.4
HP:0000006HP:0000006Autosomal dominant inheritance0TAB2 CL E G H2311817075OMIM:614980Congenital heart defects, multiple types, 2.11
HP:0000006HP:0000006Autosomal dominant inheritance0TANC2 CL E G H2611530212OMIM:618906INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0000006HP:0000006Autosomal dominant inheritance0TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000006HP:0000006Autosomal dominant inheritance0TARDBP CL E G H2343511571OMIM:612069Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia.65
HP:0000006HP:0000006Autosomal dominant inheritance0TBC1D24 CL E G H5746529203OMIM:616044Deafness, autosomal dominant 65.271
HP:0000006HP:0000006Autosomal dominant inheritance0TBK1 CL E G H2911011584OMIM:617900Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8.20
HP:0000006HP:0000006Autosomal dominant inheritance0TBK1 CL E G H2911011584OMIM:616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4.20
HP:0000006HP:0000006Autosomal dominant inheritance0TBL1XR1 CL E G H7971829529OMIM:616944Mental retardation, autosomal dominant 4122
HP:0000006HP:0000006Autosomal dominant inheritance0TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome22
HP:0000006HP:0000006Autosomal dominant inheritance0TBP CL E G H690811588OMIM:168600Parkinson disease, late-onset.7
HP:0000006HP:0000006Autosomal dominant inheritance0TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 177
HP:0000006HP:0000006Autosomal dominant inheritance0TBR1 CL E G H1071611590OMIM:606053Intellectual developmental disorder with autism and speech delay1
HP:0000006HP:0000006Autosomal dominant inheritance0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome.32
HP:0000006HP:0000006Autosomal dominant inheritance0TBX1 CL E G H689911592OMIM:187500Tetralogy of Fallot.32
HP:0000006HP:0000006Autosomal dominant inheritance0TBX1 CL E G H689911592OMIM:192430Velocardiofacial syndrome.32
HP:0000006HP:0000006Autosomal dominant inheritance0TBX18 CL E G H909611595OMIM:143400Congenital anomalies of kidney and urinary tract 2.5
HP:0000006HP:0000006Autosomal dominant inheritance0TBX2 CL E G H690911597OMIM:618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION.
HP:0000006HP:0000006Autosomal dominant inheritance0TBX20 CL E G H5705711598OMIM:611363ATRIAL SEPTAL DEFECT 4; ASD420
HP:0000006HP:0000006Autosomal dominant inheritance0TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome.100
HP:0000006HP:0000006Autosomal dominant inheritance0TBX4 CL E G H949611603OMIM:147891Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension.55
HP:0000006HP:0000006Autosomal dominant inheritance0TBX5 CL E G H691011604OMIM:142900Holt-Oram syndrome123
HP:0000006HP:0000006Autosomal dominant inheritance0TBX6 CL E G H691111605OMIM:122600Spondylocostal dysostosis 519
HP:0000006HP:0000006Autosomal dominant inheritance0TBXA2R CL E G H691511608OMIM:614009BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT1310
HP:0000006HP:0000006Autosomal dominant inheritance0TBXT CL E G H686211515OMIM:182940Neural tube defects, susceptibility to.
HP:0000006HP:0000006Autosomal dominant inheritance0TCAP CL E G H855711610OMIM:607487Cardiomyopathy, familial hypertrophic, 25.78
HP:0000006HP:0000006Autosomal dominant inheritance0TCF12 CL E G H693811623OMIM:615314Craniosynostosis 3.28
HP:0000006HP:0000006Autosomal dominant inheritance0TCF12 CL E G H693811623OMIM:619718HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH2628
HP:0000006HP:0000006Autosomal dominant inheritance0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities.1
HP:0000006HP:0000006Autosomal dominant inheritance0TCF3 CL E G H692911633OMIM:616941Agammaglobulinemia 8, autosomal dominant2
HP:0000006HP:0000006Autosomal dominant inheritance0TCF4 CL E G H692511634OMIM:613267Corneal dystrophy, fuchs endothelial, 3.241
HP:0000006HP:0000006Autosomal dominant inheritance0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome.241
HP:0000006HP:0000006Autosomal dominant inheritance0TCF7L2 CL E G H693411641OMIM:125853Diabetes mellitus, noninsulin-dependent.4
HP:0000006HP:0000006Autosomal dominant inheritance0TCOF1 CL E G H694911654OMIM:154500Treacher collins-franceschetti syndrome140
HP:0000006HP:0000006Autosomal dominant inheritance0TEAD1 CL E G H700311714OMIM:108985Sveinsson chorioretinal atrophy.1
HP:0000006HP:0000006Autosomal dominant inheritance0TECTA CL E G H700711720OMIM:601543Deafness, autosomal dominant nonsyndromic sensorineural 12.222
HP:0000006HP:0000006Autosomal dominant inheritance0TEK CL E G H701011724OMIM:617272Glaucoma 3, primary congenital, E.78
HP:0000006HP:0000006Autosomal dominant inheritance0TEK CL E G H701011724OMIM:600195Venous malformations, multiple cutaneous and mucosal.78
HP:0000006HP:0000006Autosomal dominant inheritance0TENM4 CL E G H2601129945OMIM:616736Tremor, hereditary essential, 55
HP:0000006HP:0000006Autosomal dominant inheritance0TERC CL E G H701211727OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.48
HP:0000006HP:0000006Autosomal dominant inheritance0TERC CL E G H701211727OMIM:614743Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2.48
HP:0000006HP:0000006Autosomal dominant inheritance0TERT CL E G H701511730OMIM:613989Dyskeratosis congenita, autosomal dominant 2.238
HP:0000006HP:0000006Autosomal dominant inheritance0TERT CL E G H701511730OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.238
HP:0000006HP:0000006Autosomal dominant inheritance0TERT CL E G H701511730OMIM:601626Leukemia, acute myeloid.238
HP:0000006HP:0000006Autosomal dominant inheritance0TERT CL E G H701511730OMIM:615134MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9; CMM9238
HP:0000006HP:0000006Autosomal dominant inheritance0TERT CL E G H701511730OMIM:614742PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1238
HP:0000006HP:0000006Autosomal dominant inheritance0TERT CL E G H701511730OMIM:178500Pulmonary fibrosis, idiopathic238
HP:0000006HP:0000006Autosomal dominant inheritance0TET3 CL E G H20042428313OMIM:618798BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000006HP:0000006Autosomal dominant inheritance0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0000006HP:0000006Autosomal dominant inheritance0TFAP2B CL E G H702111743OMIM:169100Char syndrome.104
HP:0000006HP:0000006Autosomal dominant inheritance0TFAP2B CL E G H702111743OMIM:617035Patent ductus arteriosus 2.104
HP:0000006HP:0000006Autosomal dominant inheritance0TFG CL E G H1034211758OMIM:604484Neuropathy, hereditary motor and sensory, Okinawa type.18
HP:0000006HP:0000006Autosomal dominant inheritance0TGFB1 CL E G H704011766OMIM:131300Camurati-Engelmann disease13
HP:0000006HP:0000006Autosomal dominant inheritance0TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0000006HP:0000006Autosomal dominant inheritance0TGFB3 CL E G H704311769OMIM:107970Arrhythmogenic right ventricular dysplasia, familial, 1.85
HP:0000006HP:0000006Autosomal dominant inheritance0TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0000006HP:0000006Autosomal dominant inheritance0TGFBI CL E G H704511771OMIM:602082Corneal dystrophy of bowman layer, type II.58
HP:0000006HP:0000006Autosomal dominant inheritance0TGFBI CL E G H704511771OMIM:607541Corneal dystrophy, Avellino type.58
HP:0000006HP:0000006Autosomal dominant inheritance0TGFBI CL E G H704511771OMIM:121820Corneal dystrophy, epithelial basement membrane.58
HP:0000006HP:0000006Autosomal dominant inheritance0TGFBI CL E G H704511771OMIM:122200Corneal dystrophy, lattice type I.58
HP:0000006HP:0000006Autosomal dominant inheritance0TGFBI CL E G H704511771OMIM:608471Corneal dystrophy, lattice type IIIA.58
HP:0000006HP:0000006Autosomal dominant inheritance0TGFBI CL E G H704511771OMIM:608470Corneal dystrophy, Reis-Bucklers type58
HP:0000006HP:0000006Autosomal dominant inheritance0TGFBI CL E G H704511771OMIM:121900Groenouw type I corneal dystrophy.58
HP:0000006HP:0000006Autosomal dominant inheritance0TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0000006HP:0000006Autosomal dominant inheritance0TGFBR1 CL E G H704611772OMIM:132800Multiple self-healing squamous epithelioma.239
HP:0000006HP:0000006Autosomal dominant inheritance0TGFBR2 CL E G H704811773OMIM:614331COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6; HNPCC6253
HP:0000006HP:0000006Autosomal dominant inheritance0TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0000006HP:0000006Autosomal dominant inheritance0TGIF1 CL E G H705011776OMIM:142946Holoprosencephaly 4.32
HP:0000006HP:0000006Autosomal dominant inheritance0TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 35.58
HP:0000006HP:0000006Autosomal dominant inheritance0THAP1 CL E G H5514520856OMIM:602629Dystonia 6, torsion.42
HP:0000006HP:0000006Autosomal dominant inheritance0THBD CL E G H705611784OMIM:612926Hemolytic uremic syndrome, atypical, susceptibility to, 6.60
HP:0000006HP:0000006Autosomal dominant inheritance0THBD CL E G H705611784OMIM:614486Thrombophilia due to thrombomodulin defect60
HP:0000006HP:0000006Autosomal dominant inheritance0THPO CL E G H706611795OMIM:187950THROMBOCYTHEMIA 1; THCYT123
HP:0000006HP:0000006Autosomal dominant inheritance0THRA CL E G H706711796OMIM:614450Hypothyroidism, congenital, nongoitrous, 6.9
HP:0000006HP:0000006Autosomal dominant inheritance0THRB CL E G H706811799OMIM:188570Thyroid hormone resistance, generalized, autosomal dominant.161
HP:0000006HP:0000006Autosomal dominant inheritance0THRB CL E G H706811799OMIM:145650Thyroid hormone resistance, selective pituitary.161
HP:0000006HP:0000006Autosomal dominant inheritance0THSD1 CL E G H5590117754OMIM:618734ANEURYSM, INTRACRANIAL BERRY, 12; ANIB122
HP:0000006HP:0000006Autosomal dominant inheritance0THSD4 CL E G H7987525835OMIM:619825AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT122
HP:0000006HP:0000006Autosomal dominant inheritance0TIA1 CL E G H707211802OMIM:619133AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS265
HP:0000006HP:0000006Autosomal dominant inheritance0TIA1 CL E G H707211802OMIM:604454Welander distal myopathy.5
HP:0000006HP:0000006Autosomal dominant inheritance0TICAM1 CL E G H14802218348OMIM:614850Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6.6
HP:0000006HP:0000006Autosomal dominant inheritance0TIE1 CL E G H707511809OMIM:619401LYMPHATIC MALFORMATION 11; LMPHM11
HP:0000006HP:0000006Autosomal dominant inheritance0TIMELESS CL E G H891411813OMIM:620015
HP:0000006HP:0000006Autosomal dominant inheritance0TIMP3 CL E G H707811822OMIM:136900Sorsby fundus dystrophy.95
HP:0000006HP:0000006Autosomal dominant inheritance0TINF2 CL E G H2627711824OMIM:613990Dyskeratosis congenita, autosomal dominant 3.60
HP:0000006HP:0000006Autosomal dominant inheritance0TINF2 CL E G H2627711824OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.60
HP:0000006HP:0000006Autosomal dominant inheritance0TINF2 CL E G H2627711824OMIM:268130Revesz syndrome.60
HP:0000006HP:0000006Autosomal dominant inheritance0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 57.1
HP:0000006HP:0000006Autosomal dominant inheritance0TLL1 CL E G H709211843OMIM:613087Atrial septal defect 6.6
HP:0000006HP:0000006Autosomal dominant inheritance0TLR2 CL E G H709711848OMIM:114500Colorectal cancer.5
HP:0000006HP:0000006Autosomal dominant inheritance0TLR2 CL E G H709711848OMIM:246300Leprosy, susceptibility to.5
HP:0000006HP:0000006Autosomal dominant inheritance0TLR3 CL E G H709811849OMIM:613002Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2.3
HP:0000006HP:0000006Autosomal dominant inheritance0TM4SF20 CL E G H7985326230OMIM:615432SPECIFIC LANGUAGE IMPAIRMENT 5; SLI53
HP:0000006HP:0000006Autosomal dominant inheritance0TMC1 CL E G H11753116513OMIM:606705Deafness, autosomal dominant 36.109
HP:0000006HP:0000006Autosomal dominant inheritance0TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16.
HP:0000006HP:0000006Autosomal dominant inheritance0TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA.131
HP:0000006HP:0000006Autosomal dominant inheritance0TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0000006HP:0000006Autosomal dominant inheritance0TMEM43 CL E G H7918828472OMIM:604400Arrhythmogenic right ventricular dysplasia, familial, 5171
HP:0000006HP:0000006Autosomal dominant inheritance0TMEM43 CL E G H7918828472OMIM:619832AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3; AUNA3171
HP:0000006HP:0000006Autosomal dominant inheritance0TMEM43 CL E G H7918828472OMIM:614302Emery-Dreifuss muscular dystrophy 7, autosomal dominant.171
HP:0000006HP:0000006Autosomal dominant inheritance0TMEM63A CL E G H972529118OMIM:618688LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0000006HP:0000006Autosomal dominant inheritance0TMEM98 CL E G H2602224529OMIM:615972Nanophthalmos 4.3
HP:0000006HP:0000006Autosomal dominant inheritance0TNC CL E G H33715318OMIM:615629Deafness, autosomal dominant 56.9
HP:0000006HP:0000006Autosomal dominant inheritance0TNF CL E G H712411892OMIM:600807Asthma, susceptibility to.7
HP:0000006HP:0000006Autosomal dominant inheritance0TNF CL E G H712411892OMIM:157300Migraine with or without aura, susceptibility to, 1.7
HP:0000006HP:0000006Autosomal dominant inheritance0TNFAIP3 CL E G H712811896OMIM:616744AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL26
HP:0000006HP:0000006Autosomal dominant inheritance0TNFRSF11A CL E G H879211908OMIM:174810Familial expansile osteolysis.72
HP:0000006HP:0000006Autosomal dominant inheritance0TNFRSF11A CL E G H879211908OMIM:602080Paget disease of bone 2, early-onset.72
HP:0000006HP:0000006Autosomal dominant inheritance0TNFRSF13B CL E G H2349518153OMIM:240500Immunodeficiency, common variable, 232
HP:0000006HP:0000006Autosomal dominant inheritance0TNFRSF13C CL E G H11565017755OMIM:240500Immunodeficiency, common variable, 212
HP:0000006HP:0000006Autosomal dominant inheritance0TNFRSF1A CL E G H713211916OMIM:142680Periodic fever, familial, autosomal dominant131
HP:0000006HP:0000006Autosomal dominant inheritance0TNNC1 CL E G H713411943OMIM:611879CARDIOMYOPATHY, DILATED, 1Z; CMD1Z73
HP:0000006HP:0000006Autosomal dominant inheritance0TNNC1 CL E G H713411943OMIM:613243Cardiomyopathy, familial hypertrophic, 13.73
HP:0000006HP:0000006Autosomal dominant inheritance0TNNI2 CL E G H713611946OMIM:601680Arthrogryposis, distal, type 2B.37
HP:0000006HP:0000006Autosomal dominant inheritance0TNNI3 CL E G H713711947OMIM:613286Cardiomyopathy, dilated, 1ff180
HP:0000006HP:0000006Autosomal dominant inheritance0TNNI3 CL E G H713711947OMIM:613690Cardiomyopathy, familial hypertrophic, 7.180
HP:0000006HP:0000006Autosomal dominant inheritance0TNNI3 CL E G H713711947OMIM:115210CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1180
HP:0000006HP:0000006Autosomal dominant inheritance0TNNI3K CL E G H5108619661OMIM:616117Cardiac conduction disease with or without dilated cardiomyopathy1
HP:0000006HP:0000006Autosomal dominant inheritance0TNNT2 CL E G H713911949OMIM:601494Cardiomyopathy, dilated, 1D.248
HP:0000006HP:0000006Autosomal dominant inheritance0TNNT2 CL E G H713911949OMIM:115195Cardiomyopathy, familial hypertrophic, 2.248
HP:0000006HP:0000006Autosomal dominant inheritance0TNNT2 CL E G H713911949OMIM:612422Cardiomyopathy, familial restrictive, 3.248
HP:0000006HP:0000006Autosomal dominant inheritance0TNNT3 CL E G H714011950OMIM:618435Arthrogryposis, distal, type 2B2.43
HP:0000006HP:0000006Autosomal dominant inheritance0TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000006HP:0000006Autosomal dominant inheritance0TNPO3 CL E G H2353417103OMIM:608423Muscular dystrophy, limb-girdle, autosomal dominant 2.71
HP:0000006HP:0000006Autosomal dominant inheritance0TNRC6A CL E G H2732711969OMIM:618074EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6
HP:0000006HP:0000006Autosomal dominant inheritance0TNRC6B CL E G H2311229190OMIM:619243GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000006HP:0000006Autosomal dominant inheritance0TNXB CL E G H714811976OMIM:615963Vesicoureteral reflux 8.134
HP:0000006HP:0000006Autosomal dominant inheritance0TOM1 CL E G H1004311982OMIM:619510IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0000006HP:0000006Autosomal dominant inheritance0TOPORS CL E G H1021021653OMIM:609923Retinitis pigmentosa 3161
HP:0000006HP:0000006Autosomal dominant inheritance0TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant.47
HP:0000006HP:0000006Autosomal dominant inheritance0TP53 CL E G H715711998OMIM:202300Adrenocortical carcinoma, pediatric.911
HP:0000006HP:0000006Autosomal dominant inheritance0TP53 CL E G H715711998OMIM:614740BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7; BCC7911
HP:0000006HP:0000006Autosomal dominant inheritance0TP53 CL E G H715711998OMIM:618165Bone marrow failure syndrome 5.911
HP:0000006HP:0000006Autosomal dominant inheritance0TP53 CL E G H715711998OMIM:114480Breast cancer.911
HP:0000006HP:0000006Autosomal dominant inheritance0TP53 CL E G H715711998OMIM:114500Colorectal cancer.911
HP:0000006HP:0000006Autosomal dominant inheritance0TP53 CL E G H715711998OMIM:137800Glioma susceptibility 1.911
HP:0000006HP:0000006Autosomal dominant inheritance0TP53 CL E G H715711998OMIM:151623Li-Fraumeni syndrome.911
HP:0000006HP:0000006Autosomal dominant inheritance0TP53 CL E G H715711998OMIM:260350Pancreatic cancer.911
HP:0000006HP:0000006Autosomal dominant inheritance0TP53 CL E G H715711998OMIM:260500Papilloma of choroid plexus.911
HP:0000006HP:0000006Autosomal dominant inheritance0TP63 CL E G H862615979OMIM:103285Adult syndrome.140
HP:0000006HP:0000006Autosomal dominant inheritance0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate.140
HP:0000006HP:0000006Autosomal dominant inheritance0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0000006HP:0000006Autosomal dominant inheritance0TP63 CL E G H862615979OMIM:603543Limb-Mammary syndrome.140
HP:0000006HP:0000006Autosomal dominant inheritance0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome.140
HP:0000006HP:0000006Autosomal dominant inheritance0TP63 CL E G H862615979OMIM:605289Split-Hand/foot malformation 4140
HP:0000006HP:0000006Autosomal dominant inheritance0TPH2 CL E G H12127820692OMIM:613003ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 731
HP:0000006HP:0000006Autosomal dominant inheritance0TPM1 CL E G H716812010OMIM:611878Cardiomyopathy, dilated, 1Y.230
HP:0000006HP:0000006Autosomal dominant inheritance0TPM1 CL E G H716812010OMIM:115196Cardiomyopathy, familial hypertrophic, 3.230
HP:0000006HP:0000006Autosomal dominant inheritance0TPM2 CL E G H716912011OMIM:108120Arthrogryposis, distal, type 1A.54
HP:0000006HP:0000006Autosomal dominant inheritance0TPM2 CL E G H716912011OMIM:255310Myopathy, congenital, with fiber-type disproportion.54
HP:0000006HP:0000006Autosomal dominant inheritance0TPM2 CL E G H716912011OMIM:609285Nemaline myopathy 4.54
HP:0000006HP:0000006Autosomal dominant inheritance0TPM3 CL E G H717012012OMIM:255310Myopathy, congenital, with fiber-type disproportion.108
HP:0000006HP:0000006Autosomal dominant inheritance0TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1.108
HP:0000006HP:0000006Autosomal dominant inheritance0TRAF7 CL E G H8423120456OMIM:618164Cardiac, facial, and digital anomalies with developmental delay.
HP:0000006HP:0000006Autosomal dominant inheritance0TRDN CL E G H1034512261OMIM:604772VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1145
HP:0000006HP:0000006Autosomal dominant inheritance0TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 1.56
HP:0000006HP:0000006Autosomal dominant inheritance0TREX1 CL E G H1127712269OMIM:610448Chilblain lupus 1.56
HP:0000006HP:0000006Autosomal dominant inheritance0TREX1 CL E G H1127712269OMIM:152700Systemic lupus erythematosus.56
HP:0000006HP:0000006Autosomal dominant inheritance0TREX1 CL E G H1127712269OMIM:192315Vasculopathy, retinal, with cerebral leukodystrophy.56
HP:0000006HP:0000006Autosomal dominant inheritance0TRIM44 CL E G H5476519016OMIM:617142Aniridia 3.1
HP:0000006HP:0000006Autosomal dominant inheritance0TRIM71 CL E G H13140532669OMIM:618667HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1; HYDCC1
HP:0000006HP:0000006Autosomal dominant inheritance0TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0000006HP:0000006Autosomal dominant inheritance0TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0000006HP:0000006Autosomal dominant inheritance0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 44.8
HP:0000006HP:0000006Autosomal dominant inheritance0TRIP12 CL E G H932012306OMIM:617752Mental retardation, autosomal dominant 49.2
HP:0000006HP:0000006Autosomal dominant inheritance0TRNT CL E G H45767499OMIM:168600Parkinson disease, late-onset.
HP:0000006HP:0000006Autosomal dominant inheritance0TRPA1 CL E G H8989497OMIM:615040Episodic pain syndrome, familial, 1.1
HP:0000006HP:0000006Autosomal dominant inheritance0TRPC3 CL E G H722212335OMIM:616410Spinocerebellar ataxia 41.1
HP:0000006HP:0000006Autosomal dominant inheritance0TRPC6 CL E G H722512338OMIM:603965Focal segmental glomerulosclerosis 2.107
HP:0000006HP:0000006Autosomal dominant inheritance0TRPM4 CL E G H5479517993OMIM:618531ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6; EKVP6124
HP:0000006HP:0000006Autosomal dominant inheritance0TRPM4 CL E G H5479517993OMIM:604559Progressive familial heart block, type IB.124
HP:0000006HP:0000006Autosomal dominant inheritance0TRPM7 CL E G H5482217994OMIM:105500Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1.2
HP:0000006HP:0000006Autosomal dominant inheritance0TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I.171
HP:0000006HP:0000006Autosomal dominant inheritance0TRPS1 CL E G H722712340OMIM:190351Trichorhinophalangeal syndrome, type III.171
HP:0000006HP:0000006Autosomal dominant inheritance0TRPV3 CL E G H16251418084OMIM:614594Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques.151
HP:0000006HP:0000006Autosomal dominant inheritance0TRPV3 CL E G H16251418084OMIM:616400Palmoplantar keratoderma, nonepidermolytic, focal 2.151
HP:0000006HP:0000006Autosomal dominant inheritance0TRPV4 CL E G H5934118083OMIM:617383AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2; ANFH2214
HP:0000006HP:0000006Autosomal dominant inheritance0TRPV4 CL E G H5934118083OMIM:113500Brachyolmia type 3.214
HP:0000006HP:0000006Autosomal dominant inheritance0TRPV4 CL E G H5934118083OMIM:606835Digital arthropathy-brachydactyly, familial.214
HP:0000006HP:0000006Autosomal dominant inheritance0TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC.214
HP:0000006HP:0000006Autosomal dominant inheritance0TRPV4 CL E G H5934118083OMIM:156530Metatropic dysplasia.214
HP:0000006HP:0000006Autosomal dominant inheritance0TRPV4 CL E G H5934118083OMIM:168400Parastremmatic dwarfism.214
HP:0000006HP:0000006Autosomal dominant inheritance0TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy.214
HP:0000006HP:0000006Autosomal dominant inheritance0TRPV4 CL E G H5934118083OMIM:600175Spinal muscular atrophy, distal, congenital nonprogressive.214
HP:0000006HP:0000006Autosomal dominant inheritance0TRPV4 CL E G H5934118083OMIM:184095Spondyloepiphyseal dysplasia, Maroteaux type.214
HP:0000006HP:0000006Autosomal dominant inheritance0TRPV4 CL E G H5934118083OMIM:184252Spondylometaphyseal dysplasia, Kozlowski type.214
HP:0000006HP:0000006Autosomal dominant inheritance0TRRAP CL E G H829512347OMIM:618778DEAFNESS, AUTOSOMAL DOMINANT 75; DFNA752
HP:0000006HP:0000006Autosomal dominant inheritance0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism.2
HP:0000006HP:0000006Autosomal dominant inheritance0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0000006HP:0000006Autosomal dominant inheritance0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0000006HP:0000006Autosomal dominant inheritance0TSHR CL E G H725312373OMIM:603373HYPERTHYROIDISM, FAMILIAL GESTATIONAL97
HP:0000006HP:0000006Autosomal dominant inheritance0TSHR CL E G H725312373OMIM:609152Hyperthyroidism, nonautoimmune.97
HP:0000006HP:0000006Autosomal dominant inheritance0TSHZ1 CL E G H1019410669OMIM:607842Aural atresia, congenital111
HP:0000006HP:0000006Autosomal dominant inheritance0TSPAN12 CL E G H2355421641OMIM:613310Exudative vitreoretinopathy 5.39
HP:0000006HP:0000006Autosomal dominant inheritance0TTBK2 CL E G H14605719141OMIM:604432Spinocerebellar ataxia 11.57
HP:0000006HP:0000006Autosomal dominant inheritance0TTC21B CL E G H7980925660OMIM:613820Nephronophthisis 12.132
HP:0000006HP:0000006Autosomal dominant inheritance0TTN CL E G H727312403OMIM:604145CARDIOMYOPATHY, DILATED, 1G; CMD1G7128
HP:0000006HP:0000006Autosomal dominant inheritance0TTN CL E G H727312403OMIM:613765CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9; CMH97128
HP:0000006HP:0000006Autosomal dominant inheritance0TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0000006HP:0000006Autosomal dominant inheritance0TTN CL E G H727312403OMIM:600334Tibial muscular dystrophy, tardive.7128
HP:0000006HP:0000006Autosomal dominant inheritance0TTR CL E G H727612405OMIM:105210Amyloidosis, hereditary, transthyretin-related.107
HP:0000006HP:0000006Autosomal dominant inheritance0TTR CL E G H727612405OMIM:115430Carpal tunnel syndrome.107
HP:0000006HP:0000006Autosomal dominant inheritance0TUBA1A CL E G H784620766OMIM:611603Lissencephaly 3.106
HP:0000006HP:0000006Autosomal dominant inheritance0TUBA3D CL E G H11345724071OMIM:617928Keratoconus 9.
HP:0000006HP:0000006Autosomal dominant inheritance0TUBA4A CL E G H727712407OMIM:616208Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia.6
HP:0000006HP:0000006Autosomal dominant inheritance0TUBA8 CL E G H5180712410OMIM:61984021
HP:0000006HP:0000006Autosomal dominant inheritance0TUBB CL E G H20306820778OMIM:615771Cortical dysplasia, complex, with other brain malformations 6.14
HP:0000006HP:0000006Autosomal dominant inheritance0TUBB CL E G H20306820778OMIM:156610Skin creases, congenital symmetric circumferential, 1.14
HP:0000006HP:0000006Autosomal dominant inheritance0TUBB1 CL E G H8102716257OMIM:613112Macrothrombocytopenia, autosomal dominant, tubb1-related.3
HP:0000006HP:0000006Autosomal dominant inheritance0TUBB2A CL E G H728012412OMIM:615763Cortical dysplasia, complex, with other brain malformations 5.23
HP:0000006HP:0000006Autosomal dominant inheritance0TUBB2B CL E G H34773330829OMIM:610031Cortical dysplasia, complex, with other brain malformations 7.39
HP:0000006HP:0000006Autosomal dominant inheritance0TUBB3 CL E G H1038120772OMIM:614039Cortical dysplasia, complex, with other brain malformations 1.64
HP:0000006HP:0000006Autosomal dominant inheritance0TUBB3 CL E G H1038120772OMIM:600638Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement.64
HP:0000006HP:0000006Autosomal dominant inheritance0TUBB4A CL E G H1038220774OMIM:128101Dystonia 4, torsion, autosomal dominant.66
HP:0000006HP:0000006Autosomal dominant inheritance0TUBB4A CL E G H1038220774OMIM:612438Leukodystrophy, hypomyelinating, 6.66
HP:0000006HP:0000006Autosomal dominant inheritance0TUBB4B CL E G H1038320771OMIM:617879Leber congenital amaurosis with early-onset deafness.
HP:0000006HP:0000006Autosomal dominant inheritance0TUBB6 CL E G H8461720776OMIM:617732Facial palsy, congenital, with ptosis and velopharyngeal dysfunction.
HP:0000006HP:0000006Autosomal dominant inheritance0TUBB8 CL E G H34768820773OMIM:616780Oocyte maturation defect 2.10
HP:0000006HP:0000006Autosomal dominant inheritance0TUBG1 CL E G H728312417OMIM:615412Cortical dysplasia, complex, with other brain malformations 4.14
HP:0000006HP:0000006Autosomal dominant inheritance0TWIST1 CL E G H729112428OMIM:123100Craniosynostosis 1.18
HP:0000006HP:0000006Autosomal dominant inheritance0TWIST1 CL E G H729112428OMIM:180750Robinow-Sorauf syndrome.18
HP:0000006HP:0000006Autosomal dominant inheritance0TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18
HP:0000006HP:0000006Autosomal dominant inheritance0TWIST1 CL E G H729112428OMIM:617746Sweeney-Cox syndrome.18
HP:0000006HP:0000006Autosomal dominant inheritance0TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome.7
HP:0000006HP:0000006Autosomal dominant inheritance0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome.7
HP:0000006HP:0000006Autosomal dominant inheritance0TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3.113
HP:0000006HP:0000006Autosomal dominant inheritance0UBA2 CL E G H1005430661OMIM:619959
HP:0000006HP:0000006Autosomal dominant inheritance0UBAP1 CL E G H5127112461OMIM:618418Spastic paraplegia 80, autosomal dominant.
HP:0000006HP:0000006Autosomal dominant inheritance0UBE3A CL E G H733712496OMIM:105830Angelman syndrome.278
HP:0000006HP:0000006Autosomal dominant inheritance0UBIAD1 CL E G H2991430791OMIM:121800Corneal dystrophy, crystalline, of schnyder.69
HP:0000006HP:0000006Autosomal dominant inheritance0UBTF CL E G H734312511OMIM:617672Neurodegeneration, childhood-onset, with brain atrophy.1
HP:0000006HP:0000006Autosomal dominant inheritance0UCHL1 CL E G H734512513OMIM:613643PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK521
HP:0000006HP:0000006Autosomal dominant inheritance0UCP3 CL E G H735212519OMIM:601665OBESITY.6
HP:0000006HP:0000006Autosomal dominant inheritance0UFSP2 CL E G H5532525640OMIM:142669Hip dysplasia, Beukes type.2
HP:0000006HP:0000006Autosomal dominant inheritance0UFSP2 CL E G H5532525640OMIM:617974Spondyloepimetaphyseal dysplasia, DI Rocco type.2
HP:0000006HP:0000006Autosomal dominant inheritance0UMOD CL E G H736912559OMIM:162000Hyperuricemic nephropathy, familial juvenile, 1.66
HP:0000006HP:0000006Autosomal dominant inheritance0UNC119 CL E G H909412565OMIM:615518IMMUNODEFICIENCY 13; IMD1330
HP:0000006HP:0000006Autosomal dominant inheritance0UNC45B CL E G H14686214304OMIM:616279Cataract 43.1
HP:0000006HP:0000006Autosomal dominant inheritance0UNC45B CL E G H14686214304OMIM:619178MYOFIBRILLAR MYOPATHY 11; MFM111
HP:0000006HP:0000006Autosomal dominant inheritance0UQCRC1 CL E G H738412585OMIM:619279PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0000006HP:0000006Autosomal dominant inheritance0UROD CL E G H738912591OMIM:176100Porphyria cutanea tarda.31
HP:0000006HP:0000006Autosomal dominant inheritance0USP7 CL E G H787412630OMIM:616863Chromosome 16p13.2 deletion syndrome2
HP:0000006HP:0000006Autosomal dominant inheritance0USP8 CL E G H910112631OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.7
HP:0000006HP:0000006Autosomal dominant inheritance0VAMP1 CL E G H684312642OMIM:108600Spastic ataxia 1, autosomal dominant.2
HP:0000006HP:0000006Autosomal dominant inheritance0VAMP2 CL E G H684412643OMIM:618760NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0000006HP:0000006Autosomal dominant inheritance0VANGL1 CL E G H8183915512OMIM:182940Neural tube defects, susceptibility to.111
HP:0000006HP:0000006Autosomal dominant inheritance0VANGL1 CL E G H8183915512OMIM:600145Sacral defect with anterior meningocele.111
HP:0000006HP:0000006Autosomal dominant inheritance0VANGL2 CL E G H5721615511OMIM:182940Neural tube defects, susceptibility to.2
HP:0000006HP:0000006Autosomal dominant inheritance0VAPB CL E G H921712649OMIM:608627Amyotrophic lateral sclerosis 8116
HP:0000006HP:0000006Autosomal dominant inheritance0VAPB CL E G H921712649OMIM:182980Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included.116
HP:0000006HP:0000006Autosomal dominant inheritance0VCAN CL E G H14622464OMIM:143200Wagner vitreoretinopathy.180
HP:0000006HP:0000006Autosomal dominant inheritance0VCL CL E G H741412665OMIM:611407CARDIOMYOPATHY, DILATED, 1W; CMD1W248
HP:0000006HP:0000006Autosomal dominant inheritance0VCL CL E G H741412665OMIM:613255Cardiomyopathy, familial hypertrophic, 15.248
HP:0000006HP:0000006Autosomal dominant inheritance0VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0000006HP:0000006Autosomal dominant inheritance0VCP CL E G H741512666OMIM:616687Charcot-Marie-Tooth disease, axonal, type 2Y.63
HP:0000006HP:0000006Autosomal dominant inheritance0VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1.63
HP:0000006HP:0000006Autosomal dominant inheritance0VEGFC CL E G H742412682OMIM:615907Lymphedema, hereditary, ID.4
HP:0000006HP:0000006Autosomal dominant inheritance0VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA.490
HP:0000006HP:0000006Autosomal dominant inheritance0VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome.490
HP:0000006HP:0000006Autosomal dominant inheritance0VIM CL E G H743112692OMIM:116300Cataract 30, multiple types.3
HP:0000006HP:0000006Autosomal dominant inheritance0VKORC1 CL E G H7900123663OMIM:122700Coumarin resistance.25
HP:0000006HP:0000006Autosomal dominant inheritance0VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0000006HP:0000006Autosomal dominant inheritance0VPS35 CL E G H5573713487OMIM:614203Parkinson disease 17.37
HP:0000006HP:0000006Autosomal dominant inheritance0VPS4A CL E G H2718313488OMIM:619273CIMDAG SYNDROME; CIMDAG1
HP:0000006HP:0000006Autosomal dominant inheritance0VSX1 CL E G H3081312723OMIM:614195Craniofacial anomalies and anterior segment dysgenesis syndrome.47
HP:0000006HP:0000006Autosomal dominant inheritance0VSX1 CL E G H3081312723OMIM:148300Keratoconus 1.47
HP:0000006HP:0000006Autosomal dominant inheritance0VWF CL E G H745012726OMIM:193400Von willebrand disease, type 1.533
HP:0000006HP:0000006Autosomal dominant inheritance0VWF CL E G H745012726OMIM:613554Von willebrand disease, type 2.533
HP:0000006HP:0000006Autosomal dominant inheritance0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome20
HP:0000006HP:0000006Autosomal dominant inheritance0WARS1 CL E G H745312729OMIM:617721Neuronopathy, distal hereditary motor, type IX.
HP:0000006HP:0000006Autosomal dominant inheritance0WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0000006HP:0000006Autosomal dominant inheritance0WASHC5 CL E G H989728984OMIM:603563Spastic paraplegia 8, autosomal dominant.83
HP:0000006HP:0000006Autosomal dominant inheritance0WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000006HP:0000006Autosomal dominant inheritance0WDFY3 CL E G H2300120751OMIM:617520Microcephaly 18, primary, autosomal dominant.6
HP:0000006HP:0000006Autosomal dominant inheritance0WDR11 CL E G H5571713831OMIM:614858Hypogonadotropic hypogonadism 14 with or without anosmia.10
HP:0000006HP:0000006Autosomal dominant inheritance0WDR26 CL E G H8023221208OMIM:617616Skraban-Deardorff syndrome.8
HP:0000006HP:0000006Autosomal dominant inheritance0WDR37 CL E G H2288431406OMIM:618652NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000006HP:0000006Autosomal dominant inheritance0WFS1 CL E G H746612762OMIM:116400Cataract, nuclear total.389
HP:0000006HP:0000006Autosomal dominant inheritance0WFS1 CL E G H746612762OMIM:600965Deafness, autosomal dominant 6.389
HP:0000006HP:0000006Autosomal dominant inheritance0WFS1 CL E G H746612762OMIM:125853Diabetes mellitus, noninsulin-dependent.389
HP:0000006HP:0000006Autosomal dominant inheritance0WFS1 CL E G H746612762OMIM:614296Wolfram-Like syndrome, autosomal dominant.389
HP:0000006HP:0000006Autosomal dominant inheritance0WNK1 CL E G H6512514540OMIM:614492Pseudohypoaldosteronism, type IIC.199
HP:0000006HP:0000006Autosomal dominant inheritance0WNK4 CL E G H6526614544OMIM:614491Pseudohypoaldosteronism, type IIB.71
HP:0000006HP:0000006Autosomal dominant inheritance0WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 4.71
HP:0000006HP:0000006Autosomal dominant inheritance0WNT10B CL E G H748012775OMIM:617073Tooth agenesis, selective, 8.4
HP:0000006HP:0000006Autosomal dominant inheritance0WNT4 CL E G H5436112783OMIM:158330Mullerian aplasia and hyperandrogenism.4
HP:0000006HP:0000006Autosomal dominant inheritance0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 1.98
HP:0000006HP:0000006Autosomal dominant inheritance0WT1 CL E G H749012796OMIM:106210Aniridia177
HP:0000006HP:0000006Autosomal dominant inheritance0WT1 CL E G H749012796OMIM:194080Denys-Drash syndrome.177
HP:0000006HP:0000006Autosomal dominant inheritance0WT1 CL E G H749012796OMIM:136680Frasier syndrome177
HP:0000006HP:0000006Autosomal dominant inheritance0WT1 CL E G H749012796OMIM:608978MEACHAM SYNDROME177
HP:0000006HP:0000006Autosomal dominant inheritance0WT1 CL E G H749012796OMIM:256370Nephrotic syndrome, type 4.177
HP:0000006HP:0000006Autosomal dominant inheritance0WT1 CL E G H749012796OMIM:194070Wilms tumor 1.177
HP:0000006HP:0000006Autosomal dominant inheritance0WT1 CL E G H749012796OMIM:194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome.177
HP:0000006HP:0000006Autosomal dominant inheritance0XPR1 CL E G H921312827OMIM:616413Basal ganglia calcification, idiopathic, 64
HP:0000006HP:0000006Autosomal dominant inheritance0XRCC3 CL E G H751712830OMIM:114480Breast cancer.2
HP:0000006HP:0000006Autosomal dominant inheritance0YAP1 CL E G H1041316262OMIM:120433Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation.2
HP:0000006HP:0000006Autosomal dominant inheritance0YARS1 CL E G H856512840OMIM:608323Charcot-Marie-Tooth disease, dominant intermediate C.
HP:0000006HP:0000006Autosomal dominant inheritance0YEATS2 CL E G H5568925489OMIM:615127Epilepsy, familial adult myoclonic, 4.1
HP:0000006HP:0000006Autosomal dominant inheritance0YWHAG CL E G H753212852OMIM:617665Epileptic encephalopathy, early infantile, 56.
HP:0000006HP:0000006Autosomal dominant inheritance0YY1 CL E G H752812856OMIM:617557Gabriele-De vries syndrome.7
HP:0000006HP:0000006Autosomal dominant inheritance0ZBTB18 CL E G H1047213030OMIM:612337Mental retardation, autosomal dominant 22.16
HP:0000006HP:0000006Autosomal dominant inheritance0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0000006HP:0000006Autosomal dominant inheritance0ZBTB7A CL E G H5134118078OMIM:619769MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0000006HP:0000006Autosomal dominant inheritance0ZCCHC8 CL E G H5559625265OMIM:618674PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5; PFBMFT51
HP:0000006HP:0000006Autosomal dominant inheritance0ZEB1 CL E G H693511642OMIM:609141Corneal dystrophy, posterior polymorphous, 38
HP:0000006HP:0000006Autosomal dominant inheritance0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome362
HP:0000006HP:0000006Autosomal dominant inheritance0ZFHX2 CL E G H8544620152OMIM:147430Marsili syndrome.
HP:0000006HP:0000006Autosomal dominant inheritance0ZFHX3 CL E G H463777OMIM:176807Prostate cancer.6
HP:0000006HP:0000006Autosomal dominant inheritance0ZFHX4 CL E G H7977630939OMIM:178300Ptosis, hereditary congenital 1.
HP:0000006HP:0000006Autosomal dominant inheritance0ZFP57 CL E G H34617118791OMIM:601410Diabetes mellitus, transient neonatal, 1.30
HP:0000006HP:0000006Autosomal dominant inheritance0ZFPM2 CL E G H2341416700OMIM:61606746,xy sex reversal 9.31
HP:0000006HP:0000006Autosomal dominant inheritance0ZFPM2 CL E G H2341416700OMIM:187500Tetralogy of Fallot.31
HP:0000006HP:0000006Autosomal dominant inheritance0ZFYVE27 CL E G H11881326559OMIM:610244Spastic paraplegia 33, autosomal dominant.52
HP:0000006HP:0000006Autosomal dominant inheritance0ZIC1 CL E G H754512872OMIM:616602Craniosynostosis 6.5
HP:0000006HP:0000006Autosomal dominant inheritance0ZIC1 CL E G H754512872OMIM:618736STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS5
HP:0000006HP:0000006Autosomal dominant inheritance0ZIC2 CL E G H754612873OMIM:609637Holoprosencephaly 5.34
HP:0000006HP:0000006Autosomal dominant inheritance0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000006HP:0000006Autosomal dominant inheritance0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000006HP:0000006Autosomal dominant inheritance0ZMYND11 CL E G H1077116966OMIM:616083Mental retardation, autosomal dominant 30.24
HP:0000006HP:0000006Autosomal dominant inheritance0ZNF148 CL E G H770712933OMIM:617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies.4
HP:0000006HP:0000006Autosomal dominant inheritance0ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0000006HP:0000006Autosomal dominant inheritance0ZNF408 CL E G H7979720041OMIM:616468Exudative vitreoretinopathy 6.14
HP:0000006HP:0000006Autosomal dominant inheritance0ZNF423 CL E G H2309016762OMIM:614844Nephronophthisis 14.49
HP:0000006HP:0000006Autosomal dominant inheritance0ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0000006HP:0000006Autosomal dominant inheritance0ZNF644 CL E G H8414629222OMIM:614167Myopia 21, autosomal dominant.5
HP:0000006HP:0000006Autosomal dominant inheritance0ZNF687 CL E G H5759229277OMIM:616833Paget disease of bone 62
HP:0000006HP:0000006Autosomal dominant inheritance0ZNF750 CL E G H7975525843OMIM:610227Seborrhea-Like dermatitis with psoriasiform elements.2
HP:0000006HP:0000006Autosomal dominant inheritance0ZP3 CL E G H778413189OMIM:617712Oocyte maturation defect 3.
HP:0000006HP:0000006Autosomal dominant inheritance0ZSWIM6 CL E G H5768829316OMIM:603671Acromelic frontonasal dysostosis.5
HP:0000006HP:0000006Autosomal dominant inheritance0ZSWIM6 CL E G H5768829316OMIM:617865Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features.5


Genes (1919) :A2ML1 A4GALT AAGAB AARS1 ABCA1 ABCA4 ABCA7 ABCB4 ABCB6 ABCC1 ABCC6 ABCC8 ABCC9 ABL1 ACAN ACD ACOX1 ACTA1 ACTA2 ACTB ACTC1 ACTG1 ACTG2 ACTL6B ACTN1 ACTN2 ACTN4 ACVR1 ACVR2B ACVRL1 ADAM10 ADAR ADCY10 ADCY5 ADGRE2 ADGRL1 ADGRV1 ADH1C ADNP ADRB2 ADRB3 AFF3 AFF4 AFG3L2 AGBL1 AGO2 AGRP AHDC1 AIP AIPL1 AIRE AKAP9 AKT1 AKT2 AKT3 ALDH18A1 ALDH2 ALG10B ALG5 ALG8 ALOX5 ALPK1 ALPL ALX4 AMTN ANG ANGPT1 ANGPT2 ANGPTL4 ANK1 ANK2 ANKH ANKRD11 ANKRD17 ANKRD26 ANLN ANO3 ANO5 ANTXR1 ANXA11 ANXA5 AP1G1 AP1S3 AP2M1 AP2S1 AP4E1 APC APCDD1 APOA1 APOA2 APOA5 APOB APOE APOL2 APOL4 APP APPL1 AQP2 AQP5 AR ARCN1 ARF1 ARFGEF1 ARHGAP26 ARHGAP31 ARHGEF10 ARID1A ARID1B ARID2 ARL2 ARL3 ARL6 ARMC5 ARPC4 ASB10 ASH1L ASPN ASPRV1 ASXL1 ASXL2 ASXL3 ATAD3A ATL1 ATL3 ATM ATN1 ATP11A ATP1A1 ATP1A2 ATP1A3 ATP2A2 ATP2B1 ATP2B2 ATP2C1 ATP5MC3 ATP6V0A1 ATP6V1A ATP6V1B2 ATP8B1 ATR ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8 ATXN8OS AURKA AUTS2 AVP AXIN2 B2M BACH2 BAG3 BAP1 BARD1 BAX BCL11A BCL11B BCO1 BEAN1 BEST1 BFSP1 BFSP2 BICC1 BICD2 BICRA BLK BLVRA BMP2 BMP4 BMPR1A BMPR1B BMPR2 BMS1 BNC1 BNC2 BPTF BRAF BRCA1 BRCA2 BRIP1 BRPF1 BSCL2 BTNL2 BUB1 BUB1B C19ORF12 C1QTNF5 C1R C1S C3 C9 C9ORF72 CACNA1A CACNA1C CACNA1D CACNA1E CACNA1G CACNA1H CACNA1S CACNB2 CACNB4 CACNG2 CADM3 CALCR CALM1 CALM2 CALM3 CALR CAMK2A CAMK2B CAMK2G CAMTA1 CAPN3 CAPN5 CARD11 CARD14 CARD8 CARTPT CASP10 CASP8 CASQ1 CASQ2 CASR CAV1 CAV3 CBL CCDC50 CCDC78 CCDC88C CCL11 CCL2 CCM2 CCND1 CCND2 CCNF CCNK CD164 CD19 CD46 CD96 CDC42 CDC42BPB CDC73 CDH1 CDH11 CDH15 CDH2 CDH23 CDK13 CDK19 CDK4 CDK8 CDKN1B CDKN1C CDKN2A CDON CDSN CEACAM16 CEBPA CEL CELA2A CELF2 CELSR1 CEP85L CERT1 CES1 CFAP418 CFAP43 CFB CFC1 CFH CFHR1 CFHR3 CFHR5 CFI CFTR CHAMP1 CHCHD10 CHCHD2 CHD1 CHD2 CHD3 CHD4 CHD5 CHD7 CHD8 CHEK2 CHI3L1 CHIC2 CHMP2B CHMP4B CHN1 CHRNA1 CHRNA2 CHRNA4 CHRNA7 CHRNB1 CHRNB2 CHRND CHRNE CIC CILK1 CITED2 CLCN1 CLCN2 CLCN3 CLCN6 CLCN7 CLDN11 CLEC3B CLPB CLPX CLRN1 CLTC CNBP CNGA1 CNNM2 CNOT1 CNOT2 CNOT3 COCH COG4 COL10A1 COL11A1 COL11A2 COL12A1 COL17A1 COL18A1 COL1A1 COL1A2 COL2A1 COL3A1 COL4A1 COL4A2 COL4A3 COL4A4 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL7A1 COL8A2 COL9A1 COL9A2 COL9A3 COMP COMT COPA COPB2 COQ2 CORIN CPA6 CPLX1 CPOX CPSF1 CPT1C CPT2 CR2 CRB1 CREB3L3 CREBBP CRELD1 CRX CRY1 CRYAA CRYAB CRYBA1 CRYBA2 CRYBA4 CRYBB1 CRYBB2 CRYBB3 CRYGB CRYGC CRYGD CRYGS CRYM CSF1R CSF3R CSNK1D CSNK2A1 CSNK2B CSRP3 CST3 CTBP1 CTCF CTLA4 CTNNA1 CTNNA3 CTNNB1 CTNND1 CTRC CTSB CUL3 CUX1 CUX2 CXCR4 CYCS CYFIP2 CYLD CYP11B1 CYP19A1 CYP2A6 CYP2C9 CYP3A4 DAB1 DACT1 DAOA DCAF8 DCC DCHS1 DCN DCTN1 DDB1 DDR2 DDX41 DDX6 DEAF1 DEPDC5 DES DGCR2 DGCR6 DGCR8 DHDDS DHTKD1 DHX16 DHX30 DHX37 DIABLO DIAPH1 DIAPH3 DICER1 DIO1 DIP2B DISC2 DLC1 DLG4 DLL1 DLL4 DLST DLX3 DLX4 DLX5 DMPK DMXL2 DNA2 DNAAF4 DNAJB11 DNAJB6 DNAJC5 DNASE1 DNM1 DNM1L DNM2 DNMT1 DNMT3A DPF2 DPH5 DPP6 DPYSL5 DRD3 DRD4 DRD5 DSC2 DSG1 DSG2 DSP DSPP DSTYK DTNA DUSP6 DVL1 DVL3 DYNC1H1 DYRK1A DYRK1B DZIP1 EBF3 ECE1 EDAR EDARADD EDN1 EDN3 EDNRA EDNRB EED EEF1A2 EEF2 EFEMP1 EFHC1 EFTUD2 EGFR EGLN1 EGR2 EHHADH EHMT1 EIF2AK1 EIF2AK2 EIF4G1 EIF5A ELANE ELMOD3 ELN ELOVL1 ELOVL4 ELOVL5 ELP1 ELP4 EMILIN1 ENAM ENG ENPP1 EP300 EPAS1 EPB41 EPB41L1 EPCAM EPHA2 EPHB4 EPHX2 EPO EPS8L3 ERBB2 ERBB3 ERBB4 ERCC6 ERF ERMARD ESR1 ESR2 ESS2 ETV6 EVC EVC2 EXT1 EXT2 EYA1 EYA4 EZH2 F11 F12 F13A1 F2 F5 FAM111A FAM111B FAM83H FAR1 FAS FASLG FAT2 FBLN1 FBLN5 FBN1 FBN2 FBP2 FBXO11 FBXO28 FBXO38 FBXW11 FBXW7 FCGR2A FCGR2B FDPS FGA FGF10 FGF12 FGF14 FGF17 FGF23 FGF8 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FH FHOD3 FIG4 FLCN FLG FLI1 FLNB FLNC FLRT3 FLT3 FLT4 FN1 FOXC1 FOXC2 FOXD3 FOXE1 FOXE3 FOXF1 FOXG1 FOXJ1 FOXL2 FOXN1 FOXP1 FOXP2 FREM1 FRG1 FRMD5 FSCN2 FSHR FTH1 FTL FUS FUZ FXYD2 FZD2 FZD4 GABBR2 GABRA1 GABRA2 GABRA5 GABRB1 GABRB2 GABRB3 GABRD GABRG2 GAL GANAB GARS1 GATA2 GATA3 GATA4 GATA5 GATA6 GATAD2B GATM GBA1 GBF1 GCH1 GCK GCM2 GDAP1 GDF1 GDF11 GDF2 GDF3 GDF5 GDF6 GDNF GFAP GFI1 GFI1B GH1 GHR GHRL GHSR GIGYF2 GIPC1 GJA1 GJA3 GJA5 GJA8 GJB2 GJB3 GJB4 GJB6 GJC2 GLI2 GLI3 GLMN GLRA1 GLS GLUD1 GLUD2 GMNN GNA11 GNAI1 GNAI2 GNAI3 GNAL GNAO1 GNAQ GNAS GNAS-AS1 GNAT1 GNB1 GNB2 GNB4 GNE GP1BA GPC3 GPC4 GPD1L GPD2 GPHN GPR161 GREB1L GREM2 GRHL2 GRHL3 GRIA1 GRIA2 GRIA4 GRIK2 GRIN1 GRIN2A GRIN2B GRIN2D GRM1 GRN GSDME GSN GUCA1A GUCA1B GUCY2C GUCY2D H1-4 H19 H19-ICR H3-3A H3-3B H4C11 H4C3 H4C5 H4C9 HABP2 HARS1 HBA1 HBA2 HBB HBG1 HBG2 HCN1 HCN2 HCN4 HCRT HDAC4 HDC HECW2 HEPACAM HERC2 HESX1 HFE HIVEP2 HK1 HLA-DQB1 HLA-DRB1 HLA-G HMBS HMCN1 HMGA1 HMGA2 HMMR HNF1A HNF1B HNF4A HNMT HNRNPA1 HNRNPA2B1 HNRNPDL HNRNPH1 HNRNPK HNRNPR HNRNPU HOMER2 HOXA11 HOXA13 HOXA2 HOXD10 HOXD13 HPD HRAS HRG HRURF HS3ST6 HS6ST1 HSD11B1 HSF4 HSPA9 HSPB1 HSPB3 HSPB8 HSPD1 HTR1A HTR2A HTRA1 HTRA2 HTT HYMAI ICOS IDH1 IDH2 IFIH1 IFITM5 IFNG IFNGR1 IGF1R IGF2 IGF2BP2 IHH IKBKB IKZF1 IKZF3 IKZF5 IL13 IL17F IL17RD IL31RA IL4R IL6 IL6ST IMPDH1 IMPG1 IMPG2 INAVA INF2 INS INSL3 INSR IPW IRF1 IRF2BP2 IRF2BPL IRF3 IRF6 IRF8 IRS1 IRS2 ITGA2B ITGB3 ITM2B ITPR1 IVNS1ABP JAG1 JAK1 JAK2 JPH1 JPH2 JPH3 JUP KANSL1 KAT5 KAT6A KAT6B KAT8 KBTBD13 KCNA1 KCNA2 KCNA5 KCNB1 KCNC1 KCNC2 KCNC3 KCND3 KCNE1 KCNE2 KCNE3 KCNH1 KCNH2 KCNJ11 KCNJ13 KCNJ18 KCNJ2 KCNJ5 KCNJ6 KCNK18 KCNK3 KCNK4 KCNK9 KCNMA1 KCNMB1 KCNN2 KCNN3 KCNN4 KCNQ1 KCNQ1OT1 KCNQ2 KCNQ3 KCNQ4 KCNQ5 KCNT1 KCNT2 KCTD1 KCTD17 KDF1 KDM1A KDM3B KDM4B KDM6A KDM6B KDR KIDINS220 KIF11 KIF1A KIF1B KIF21A KIF22 KIF23 KIF2A KIF3B KIF5A KIF5C KISS1R KIT KITLG KLF1 KLF11 KLF13 KLF6 KLHL10 KLHL24 KLHL3 KLHL7 KMT2A KMT2B KMT2C KMT2D KMT2E KMT5B KNG1 KRAS KRIT1 KRT1 KRT10 KRT12 KRT13 KRT14 KRT16 KRT17 KRT2 KRT3 KRT4 KRT5 KRT6A KRT6B KRT6C KRT71 KRT74 KRT81 KRT83 KRT86 KRT9 LAMA4 LAMB3 LBR LDB3 LDLR LEMD2 LEMD3 LETM1 LGI1 LGR4 LHX4 LIPC LITAF LMAN2L LMBR1 LMBRD2 LMNA LMNB1 LMNB2 LMX1A LMX1B LOC111365204 LORICRIN LOX LOXL1 LPL LPP LRAT LRP12 LRP4 LRP5 LRP6 LRRC8A LRRK2 LRSAM1 LTBP3 LYZ LZTR1 MAB21L2 MACF1 MAD1L1 MAF MAFA MAFB MAGEL2 MAP1B MAP2K1 MAP2K2 MAP3K1 MAP3K7 MAP3K8 MAPK1 MAPK8IP1 MAPK8IP3 MAPKAPK3 MAPRE2 MAPT MARCHF6 MARS1 MAST1 MAT1A MATN3 MATR3 MAX MBD4 MBD5 MBL2 MC4R MCC MCM2 MCM6 MDM4 MECOM MED12L MED13 MED13L MEF2A MEF2C MEFV MEIS2 MEN1 MET METTL13 MFAP5 MFN2 MIB1 MICAL1 MINPP1 MIP MIR140 MIR184 MIR204 MIR96 MITF MKRN3 MKRN3-AS1 MLH1 MLH3 MLLT10 MLXIPL MME MMP13 MMP19 MN1 MNX1 MOG MORC2 MPEG1 MPL MPO MPZ MRAP2 MRAS MS4A2 MSH2 MSH3 MSH6 MST1R MSTO1 MSX1 MSX2 MTAP MTHFR MTMR14 MTNR1B MTOR MTSS2 MTTP MUC1 MUC5B MUC7 MVD MVK MXI1 MYBPC1 MYBPC3 MYCN MYH11 MYH14 MYH2 MYH3 MYH6 MYH7 MYH8 MYH9 MYL11 MYL2 MYL3 MYL4 MYLK MYLK2 MYO6 MYO7A MYOC MYOCD MYOF MYOT MYOZ2 MYPN MYRF MYT1L NAA15 NACC1 NAGLU NALCN NANOS1 NARS1 NBEA NCDN NCSTN NDNF NEDD4L NEFH NEFL NEK1 NEUROD1 NEUROD2 NEXN NF1 NF2 NFE2L2 NFIA NFIB NFIX NFKB1 NFKB2 NFKBIA NHERF1 NIPA1 NIPBL NKX2-1 NKX2-5 NLGN1 NLRC4 NLRP1 NLRP12 NLRP3 NOBOX NOD2 NODAL NOG NOL3 NOP56 NOS3 NOTCH1 NOTCH2 NOTCH2NLC NOTCH3 NOVA2 NPAP1 NPM1 NPPA NPR2 NPRL2 NPRL3 NQO2 NR0B2 NR2E3 NR2F1 NR2F2 NR3C1 NR3C2 NR4A2 NR5A1 NRAS NRIP1 NRL NSD1 NSD2 NSF NSMF NTN1 NTRK2 NUDT15 NUP214 NUS1 NUTM2B-AS1 OAS1 ODC1 OPA1 OPA3 OPCML OPLAH OPN1SW OPTN ORAI1 OSBPL2 OSMR OTULIN OTX2 OVOL2 P2RX2 P4HA2 P4HB PABPN1 PACS1 PACS2 PAFAH1B1 PAK1 PAK2 PALB2 PALLD PANK4 PANX1 PARN PAX2 PAX3 PAX4 PAX6 PAX8 PAX9 PBX1 PCDHGC4 PCGF2 PCSK9 PDCD10 PDE10A PDE11A PDE1C PDE3A PDE4D PDE6B PDE6G PDE6H PDE8B PDGFB PDGFRA PDGFRB PDGFRL PDLIM4 PDX1 PDYN PER2 PER3 PERP PEX6 PFN1 PHACTR1 PHB1 PHF21A PHIP PHOX2B PICALM PIEZO1 PIEZO2 PIGT PIK3CA PIK3CD PIK3R1 PIK3R2 PIKFYVE PITPNM3 PITX1 PITX2 PITX3 PKD1 PKD2 PKLR PKP2 PLA2G2A PLA2G7 PLAG1 PLAU PLCB4 PLCD1 PLCG2 PLD3 PLEC PLEKHM1 PLG PLIN1 PLN PLS1 PMP2 PMP22 PMS1 PMS2 PMVK PNKD PNPT1 POFUT1 POGLUT1 POGZ POLD1 POLE POLG POLG2 POLR1A POLR1B POLR1D POLR2A POLR3B POLR3F POLRMT POMC POMP POR POT1 POU1F1 POU3F3 POU4F1 POU4F3 POU6F2 PPARG PPM1D PPOX PPP1CB PPP1R12A PPP1R17 PPP1R3A PPP2CA PPP2R1A PPP2R1B PPP2R2B PPP2R3C PPP2R5D PPP3CA PRCC PRDM16 PRDM6 PRDX3 PRIMPOL PRKACA PRKACB PRKAG2 PRKAR1A PRKAR1B PRKCG PRKCSH PRKD1 PRKG1 PRKN PRLR PRNP PROC PRODH PROK2 PROKR2 PROM1 PROS1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH PRPH2 PRR12 PRRT2 PRRX1 PRSS1 PRSS2 PRX PSAP PSEN1 PSEN2 PSENEN PSMD12 PSTPIP1 PTCH1 PTCH2 PTDSS1 PTEN PTH PTH1R PTHLH PTPN1 PTPN11 PTPN12 PTPN22 PTPRJ PTPRQ PUF60 PUM1 PURA PWAR1 PWRN1 QRICH1 RAB11B RAB7A RABL3 RAC1 RAC2 RAC3 RAD21 RAD51 RAD54B RAD54L RAF1 RAI1 RALA RANBP2 RAPGEF2 RARB RASA1 RAX2 RB1 RB1CC1 RBM12 RBM20 RBP3 RBP4 RBPJ RDH12 RDH5 REEP1 REEP2 RELA RELN REN RERE REST RET RETN RGR RHAG RHBDF2 RHO RHOBTB2 RIGI RILPL1 RIMS1 RIPK1 RIPOR2 RIT1 RLBP1 RNASEL RNF125 RNF13 RNF170 RNF2 RNF213 RNF43 ROBO2 ROBO4 ROM1 ROR2 RORA RORB RP1 RP1L1 RP9 RPA1 RPE65 RPL11 RPL13 RPL15 RPL18 RPL21 RPL26 RPL27 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RPSA RRAS2 RRM2B RTEL1 RTN2 RTN4R RUNX1 RUNX2 RYR1 RYR2 SALL1 SALL4 SAMD12 SAMD9 SAMD9L SAMHD1 SASH1 SATB1 SATB2 SCD5 SCGB3A2 SCN10A SCN11A SCN1A SCN1B SCN2A SCN2B SCN3A SCN3B SCN4A SCN4B SCN5A SCN8A SCN9A SCNN1A SCNN1B SCNN1G SCO2 SDC3 SDHA SDHAF2 SDHB SDHC SDHD SEC23B SEC61A1 SEC63 SELENON SEMA3A SEMA4A SEMA6B SEPTIN12 SEPTIN9 SERPINA6 SERPINC1 SERPIND1 SERPINE1 SERPING1 SERPINI1 SET SETBP1 SETD1A SETD1B SETD2 SETD5 SETX SF3B2 SF3B4 SFTPA1 SFTPA2 SFTPC SGCD SGCE SGMS2 SH2B3 SH3BP2 SH3GL1 SH3TC2 SHANK3 SHH SHOC2 SHOX SIAH1 SIK1 SIN3A SIX1 SIX3 SIX5 SIX6 SKI SLC12A2 SLC12A5 SLC12A6 SLC16A1 SLC16A12 SLC17A8 SLC17A9 SLC1A2 SLC1A3 SLC20A2 SLC22A18 SLC25A11 SLC25A24 SLC25A4 SLC26A8 SLC2A1 SLC2A2 SLC2A9 SLC30A2 SLC30A8 SLC33A1 SLC34A1 SLC36A2 SLC37A4 SLC39A14 SLC39A5 SLC3A1 SLC40A1 SLC44A4 SLC4A1 SLC4A11 SLC52A1 SLC5A2 SLC5A7 SLC6A1 SLC6A19 SLC6A2 SLC6A20 SLC6A4 SLC6A5 SLC6A6 SLC7A9 SLCO2A1 SLFN14 SLITRK1 SMAD2 SMAD3 SMAD4 SMAD6 SMAD9 SMARCA2 SMARCA4 SMARCAD1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC3 SMCHD1 SNAI2 SNAP25 SNCA SNCAIP SNCB SNORA31 SNORD115-1 SNORD116-1 SNRNP200 SNRPB SNRPE SNRPN SNTA1 SOCS1 SOD1 SOHLH1 SON SOS1 SOS2 SOST SOX10 SOX11 SOX17 SOX18 SOX2 SOX4 SOX5 SOX6 SOX9 SP6 SPAST SPECC1L SPEN SPG7 SPI1 SPINK1 SPOP SPR SPRED1 SPRY2 SPRY4 SPTA1 SPTAN1 SPTB SPTBN1 SPTBN2 SPTLC1 SPTLC2 SQSTM1 SRC SRCAP SREBF1 SRGAP1 SRP54 SRP72 SRPX2 SSBP1 STAG1 STARD7 STAT1 STAT3 STAT5B STEAP3 STIM1 STING1 STK11 STT3A STUB1 STX16 STX1B STXBP1 SUFU SUPT16H SUZ12 SYCP3 SYK SYN2 SYNE1 SYNE2 SYNGAP1 SYT1 SYT2 TAB2 TANC2 TAOK1 TARDBP TBC1D24 TBK1 TBL1XR1 TBP TBR1 TBX1 TBX18 TBX2 TBX20 TBX3 TBX4 TBX5 TBX6 TBXA2R TBXT TCAP TCF12 TCF20 TCF3 TCF4 TCF7L2 TCOF1 TEAD1 TECTA TEK TENM4 TERC TERT TET3 TFAP2A TFAP2B TFG TGFB1 TGFB2 TGFB3 TGFBI TGFBR1 TGFBR2 TGIF1 TGM6 THAP1 THBD THPO THRA THRB THSD1 THSD4 TIA1 TICAM1 TIE1 TIMELESS TIMP3 TINF2 TLK2 TLL1 TLR2 TLR3 TM4SF20 TMC1 TMEM106B TMEM127 TMEM240 TMEM43 TMEM63A TMEM98 TNC TNF TNFAIP3 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF1A TNNC1 TNNI2 TNNI3 TNNI3K TNNT2 TNNT3 TNPO2 TNPO3 TNRC6A TNRC6B TNXB TOM1 TOPORS TOR1A TP53 TP63 TPH2 TPM1 TPM2 TPM3 TRAF7 TRDN TREX1 TRIM44 TRIM71 TRIM8 TRIO TRIP12 TRNT TRPA1 TRPC3 TRPC6 TRPM4 TRPM7 TRPS1 TRPV3 TRPV4 TRRAP TSC1 TSC2 TSHR TSHZ1 TSPAN12 TTBK2 TTC21B TTN TTR TUBA1A TUBA3D TUBA4A TUBA8 TUBB TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB8 TUBG1 TWIST1 TWIST2 TWNK UBA2 UBAP1 UBE3A UBIAD1 UBTF UCHL1 UCP3 UFSP2 UMOD UNC119 UNC45B UQCRC1 UROD USP7 USP8 VAMP1 VAMP2 VANGL1 VANGL2 VAPB VCAN VCL VCP VEGFC VHL VIM VKORC1 VPS16 VPS35 VPS4A VSX1 VWF WAC WARS1 WASF1 WASHC5 WBP11 WDFY3 WDR11 WDR26 WDR37 WFS1 WNK1 WNK4 WNT10A WNT10B WNT4 WNT5A WT1 XPR1 XRCC3 YAP1 YARS1 YEATS2 YWHAG YY1 ZBTB18 ZBTB20 ZBTB7A ZCCHC8 ZEB1 ZEB2 ZFHX2 ZFHX3 ZFHX4 ZFP57 ZFPM2 ZFYVE27 ZIC1 ZIC2 ZMIZ1 ZMYM2 ZMYND11 ZNF148 ZNF292 ZNF408 ZNF423 ZNF462 ZNF644 ZNF687 ZNF750 ZP3 ZSWIM6

Diseases (2427) :OMIM:166760 OMIM:111400 OMIM:148600 OMIM:613287 OMIM:619661 OMIM:604091 OMIM:153800 OMIM:608907 OMIM:614972 OMIM:600803 OMIM:615402 OMIM:614497 OMIM:609153 OMIM:618915 OMIM:177850 OMIM:125853 OMIM:618857 OMIM:610374 OMIM:256450 OMIM:240800 OMIM:614050 OMIM:608569 OMIM:239850 OMIM:617602 OMIM:165800 OMIM:608361 OMIM:616553 OMIM:618960 OMIM:255310 OMIM:616852 OMIM:161800 OMIM:611788 OMIM:614042 OMIM:613834 OMIM:243310 OMIM:607371 OMIM:612794 OMIM:613424 OMIM:612098 OMIM:614583 OMIM:604717 OMIM:619431 OMIM:155310 OMIM:618470 OMIM:615193 OMIM:612158 OMIM:618654 OMIM:618655 OMIM:603278 OMIM:135100 OMIM:613751 OMIM:600376 OMIM:615537 OMIM:127400 OMIM:143870 OMIM:606703 OMIM:125630 OMIM:620065 OMIM:604352 OMIM:168600 OMIM:615873 OMIM:600807 OMIM:601665 OMIM:619297 OMIM:616368 OMIM:618977 OMIM:610246 OMIM:615523 OMIM:619149 OMIM:615829 OMIM:219090 OMIM:102200 OMIM:604393 OMIM:268000 OMIM:240300 OMIM:611820 OMIM:114480 OMIM:114500 OMIM:615109 OMIM:167000 OMIM:240900 OMIM:615937 OMIM:616603 OMIM:601162 OMIM:610251 OMIM:613688 OMIM:620056 OMIM:617874 OMIM:614979 OMIM:146300 OMIM:615529 OMIM:609597 OMIM:617607 OMIM:611895 OMIM:619361 OMIM:619369 OMIM:615881 OMIM:182900 OMIM:600919 OMIM:118600 OMIM:123000 OMIM:148050 OMIM:619504 OMIM:188000 OMIM:616032 OMIM:615034 OMIM:166260 OMIM:602089 OMIM:617839 OMIM:619733 OMIM:614391 OMIM:619467 OMIM:616106 OMIM:618587 OMIM:600740 OMIM:184450 OMIM:175100 OMIM:135290 OMIM:619182 OMIM:605389 OMIM:105200 OMIM:619836 OMIM:143890 OMIM:144650 OMIM:145750 OMIM:144010 OMIM:104310 OMIM:607822 OMIM:606889 OMIM:603075 OMIM:181500 OMIM:104300 OMIM:605714 OMIM:616511 OMIM:125800 OMIM:600231 OMIM:176807 OMIM:617164 OMIM:618185 OMIM:619964 OMIM:607785 OMIM:100300 OMIM:608236 OMIM:614607 OMIM:135900 OMIM:617808 OMIM:619082 OMIM:618173 OMIM:615954 OMIM:620141 OMIM:603383 OMIM:617796 OMIM:607850 OMIM:146750 OMIM:605039 OMIM:617190 OMIM:615485 OMIM:617183 OMIM:613708 OMIM:182600 OMIM:615632 OMIM:618494 OMIM:125370 OMIM:619810 OMIM:618036 OMIM:618314 OMIM:104290 OMIM:619605 OMIM:602481 OMIM:614820 OMIM:601338 OMIM:619606 OMIM:128235 OMIM:101900 OMIM:124200 OMIM:619910 OMIM:619804 OMIM:169600 OMIM:619681 OMIM:619970 OMIM:618012 OMIM:124480 OMIM:616455 OMIM:147480 OMIM:614564 OMIM:164400 OMIM:603516 OMIM:183090 OMIM:109150 OMIM:164500 OMIM:608768 OMIM:615834 OMIM:125700 OMIM:608615 OMIM:618394 OMIM:613881 OMIM:612954 OMIM:619762 OMIM:606661 OMIM:614327 OMIM:617101 OMIM:617237 OMIM:618092 OMIM:115300 OMIM:117210 OMIM:153700 OMIM:613194 OMIM:193220 OMIM:611391 OMIM:611597 OMIM:601331 OMIM:615290 OMIM:618291 OMIM:619325 OMIM:613375 OMIM:614156 OMIM:112600 OMIM:617877 OMIM:607932 OMIM:174900 OMIM:610069 OMIM:616849 OMIM:178600 OMIM:265450 OMIM:107600 OMIM:618723 OMIM:618612 OMIM:617755 OMIM:115150 OMIM:613707 OMIM:211980 OMIM:155600 OMIM:163950 OMIM:613706 OMIM:604370 OMIM:612555 OMIM:155255 OMIM:194070 OMIM:617333 OMIM:619112 OMIM:270685 OMIM:612387 OMIM:614298 OMIM:605670 OMIM:130080 OMIM:617174 OMIM:612925 OMIM:615591 OMIM:105550 OMIM:617106 OMIM:108500 OMIM:141500 OMIM:183086 OMIM:620029 OMIM:611875 OMIM:618447 OMIM:601005 OMIM:615474 OMIM:618285 OMIM:616795 OMIM:618087 OMIM:617027 OMIM:170400 OMIM:601887 OMIM:188580 OMIM:611876 OMIM:607682 OMIM:613855 OMIM:614256 OMIM:619519 OMIM:166710 OMIM:616247 OMIM:614916 OMIM:616249 OMIM:618782 OMIM:187950 OMIM:617798 OMIM:617799 OMIM:618522 OMIM:614756 OMIM:618129 OMIM:193235 OMIM:616452 OMIM:617638 OMIM:173200 OMIM:602723 OMIM:619079 OMIM:603909 OMIM:616231 OMIM:604772 OMIM:239200 OMIM:601198 OMIM:145980 OMIM:606721 OMIM:615343 OMIM:192600 OMIM:123320 OMIM:611818 OMIM:614321 OMIM:606072 OMIM:613563 OMIM:607453 OMIM:614807 OMIM:616053 OMIM:182940 OMIM:603284 OMIM:193300 OMIM:615938 OMIM:619141 OMIM:618147 OMIM:616969 OMIM:240500 OMIM:612922 OMIM:211750 OMIM:616737 OMIM:619841 OMIM:145000 OMIM:145001 OMIM:608266 OMIM:119580 OMIM:608089 OMIM:137215 OMIM:619736 OMIM:612580 OMIM:618929 OMIM:618920 OMIM:617540 OMIM:617360 OMIM:618916 OMIM:609048 OMIM:618748 OMIM:610755 OMIM:130650 OMIM:614732 OMIM:155601 OMIM:155755 OMIM:606719 OMIM:614226 OMIM:146520 OMIM:614614 OMIM:601626 OMIM:609812 OMIM:618620 OMIM:619561 OMIM:619319 OMIM:618873 OMIM:616351 OMIM:618057 OMIM:236690 OMIM:612924 OMIM:605376 OMIM:126700 OMIM:609814 OMIM:235400 OMIM:610698 OMIM:614809 OMIM:612923 OMIM:615439 OMIM:211400 OMIM:167800 OMIM:616579 OMIM:615911 OMIM:616209 OMIM:615048 OMIM:616710 OMIM:617682 OMIM:615369 OMIM:618205 OMIM:617159 OMIM:619873 OMIM:214800 OMIM:612370 OMIM:615032 OMIM:609265 OMIM:600795 OMIM:605387 OMIM:604356 OMIM:601462 OMIM:608930 OMIM:610353 OMIM:600513 OMIM:612001 OMIM:616313 OMIM:605375 OMIM:616321 OMIM:605809 OMIM:617600 OMIM:617924 OMIM:614433 OMIM:614431 OMIM:160800 OMIM:607628 OMIM:605635 OMIM:619512 OMIM:619173 OMIM:618541 OMIM:166600 OMIM:619328 OMIM:619977 OMIM:619835 OMIM:619813 OMIM:618015 OMIM:617854 OMIM:602668 OMIM:613882 OMIM:616418 OMIM:618500 OMIM:619033 OMIM:618608 OMIM:618672 OMIM:601369 OMIM:618150 OMIM:156500 OMIM:618533 OMIM:154780 OMIM:604841 OMIM:601868 OMIM:614524 OMIM:184840 OMIM:616471 OMIM:616470 OMIM:122400 OMIM:618880 OMIM:114000 OMIM:619115 OMIM:130060 OMIM:166200 OMIM:166210 OMIM:259420 OMIM:166220 OMIM:619120 OMIM:617821 OMIM:200610 OMIM:608805 OMIM:609162 OMIM:132450 OMIM:156550 OMIM:150600 OMIM:604864 OMIM:151210 OMIM:184250 OMIM:183900 OMIM:616583 OMIM:184255 OMIM:271700 OMIM:108300 OMIM:609508 OMIM:619248 OMIM:130050 OMIM:611773 OMIM:175780 OMIM:618564 OMIM:180000 OMIM:614483 OMIM:104200 OMIM:141200 OMIM:130000 OMIM:619329 OMIM:130010 OMIM:158810 OMIM:254090 OMIM:131750 OMIM:131850 OMIM:604129 OMIM:132000 OMIM:607523 OMIM:131705 OMIM:136800 OMIM:609140 OMIM:614135 OMIM:600204 OMIM:600969 OMIM:619161 OMIM:132400 OMIM:177170 OMIM:167870 OMIM:616414 OMIM:619884 OMIM:146500 OMIM:614595 OMIM:614417 OMIM:194190 OMIM:121300 OMIM:618827 OMIM:616282 OMIM:255110 OMIM:614212 OMIM:172870 OMIM:619324 OMIM:618332 OMIM:180849 OMIM:606217 OMIM:120970 OMIM:614163 OMIM:604219 OMIM:615184 OMIM:613763 OMIM:608810 OMIM:600881 OMIM:115900 OMIM:610425 OMIM:611544 OMIM:601547 OMIM:609741 OMIM:615188 OMIM:604307 OMIM:115700 OMIM:116100 OMIM:616357 OMIM:221820 OMIM:162830 OMIM:615224 OMIM:617062 OMIM:618732 OMIM:607482 OMIM:612124 OMIM:105150 OMIM:617915 OMIM:615502 OMIM:616100 OMIM:140300 OMIM:152700 OMIM:608970 OMIM:615616 OMIM:617572 OMIM:615075 OMIM:617681 OMIM:148370 OMIM:619239 OMIM:614496 OMIM:618330 OMIM:618141 OMIM:193670 OMIM:612004 OMIM:618008 OMIM:605041 OMIM:132700 OMIM:619132 OMIM:601606 OMIM:103900 OMIM:139300 OMIM:122700 OMIM:619073 OMIM:615945 OMIM:617466 OMIM:610100 OMIM:157600 OMIM:607829 OMIM:610048 OMIM:105400 OMIM:607641 OMIM:168605 OMIM:619426 OMIM:618175 OMIM:616871 OMIM:618653 OMIM:615828 OMIM:604364 OMIM:604765 OMIM:601419 OMIM:181400 OMIM:192430 OMIM:617836 OMIM:615025 OMIM:618733 OMIM:617804 OMIM:273250 OMIM:614152 OMIM:124900 OMIM:609129 OMIM:138800 OMIM:601200 OMIM:619855 OMIM:136630 OMIM:618793 OMIM:618709 OMIM:616589 OMIM:618475 OMIM:104510 OMIM:190320 OMIM:616788 OMIM:183600 OMIM:160900 OMIM:617605 OMIM:615156 OMIM:127700 OMIM:618061 OMIM:603511 OMIM:162350 OMIM:616346 OMIM:614388 OMIM:610708 OMIM:606482 OMIM:160150 OMIM:604121 OMIM:614116 OMIM:618724 OMIM:615879 OMIM:618027 OMIM:620070 OMIM:616311 OMIM:612956 OMIM:619435 OMIM:190300 OMIM:143465 OMIM:606798 OMIM:610476 OMIM:148700 OMIM:610193 OMIM:607450 OMIM:615821 OMIM:612908 OMIM:605594 OMIM:125420 OMIM:125490 OMIM:125500 OMIM:610805 OMIM:604169 OMIM:615269 OMIM:180700 OMIM:616331 OMIM:616894 OMIM:614228 OMIM:614563 OMIM:158600 OMIM:614104 OMIM:615812 OMIM:610840 OMIM:617330 OMIM:613870 OMIM:129490 OMIM:614940 OMIM:612798 OMIM:613712 OMIM:613265 OMIM:616367 OMIM:157300 OMIM:600155 OMIM:277580 OMIM:617561 OMIM:616409 OMIM:616393 OMIM:609306 OMIM:126600 OMIM:607631 OMIM:254770 OMIM:610536 OMIM:609820 OMIM:607678 OMIM:145900 OMIM:605253 OMIM:615605 OMIM:610253 OMIM:618878 OMIM:619687 OMIM:618877 OMIM:614251 OMIM:619376 OMIM:162800 OMIM:202700 OMIM:619500 OMIM:123700 OMIM:185500 OMIM:194050 OMIM:618527 OMIM:133190 OMIM:600110 OMIM:615957 OMIM:617141 OMIM:620080 OMIM:104500 OMIM:187300 OMIM:615522 OMIM:618333 OMIM:613684 OMIM:611783 OMIM:611804 OMIM:614257 OMIM:613244 OMIM:116600 OMIM:618196 OMIM:617300 OMIM:617907 OMIM:612841 OMIM:137800 OMIM:133180 OMIM:615515 OMIM:616946 OMIM:617180 OMIM:600775 OMIM:615544 OMIM:618187 OMIM:616216 OMIM:193530 OMIM:133700 OMIM:133701 OMIM:602588 OMIM:113650 OMIM:166780 OMIM:605362 OMIM:601316 OMIM:277590 OMIM:612416 OMIM:610618 OMIM:188050 OMIM:614390 OMIM:614389 OMIM:188055 OMIM:602361 OMIM:127000 OMIM:615704 OMIM:130900 OMIM:619338 OMIM:601859 OMIM:617769 OMIM:608180 OMIM:619764 OMIM:614434 OMIM:608895 OMIM:102370 OMIM:129600 OMIM:614185 OMIM:616914 OMIM:154700 OMIM:604308 OMIM:184900 OMIM:608328 OMIM:121050 OMIM:616118 OMIM:619864 OMIM:618089 OMIM:619777 OMIM:615575 OMIM:618914 OMIM:620012 OMIM:616631 OMIM:180920 OMIM:149730 OMIM:617166 OMIM:193003 OMIM:615270 OMIM:193100 OMIM:612702 OMIM:612961 OMIM:615465 OMIM:147950 OMIM:123150 OMIM:166250 OMIM:101600 OMIM:190440 OMIM:207410 OMIM:101200 OMIM:123790 OMIM:614592 OMIM:123500 OMIM:101400 OMIM:100800 OMIM:616482 OMIM:109800 OMIM:610474 OMIM:612247 OMIM:146000 OMIM:602849 OMIM:187600 OMIM:187601 OMIM:150800 OMIM:619402 OMIM:612577 OMIM:135150 OMIM:173600 OMIM:146700 OMIM:617443 OMIM:108720 OMIM:108721 OMIM:112310 OMIM:150250 OMIM:617047 OMIM:609524 OMIM:614065 OMIM:615271 OMIM:618780 OMIM:153100 OMIM:601894 OMIM:601631 OMIM:602482 OMIM:153400 OMIM:607836 OMIM:616534 OMIM:617349 OMIM:265380 OMIM:613454 OMIM:618699 OMIM:110100 OMIM:608996 OMIM:618806 OMIM:613670 OMIM:602081 OMIM:614485 OMIM:158900 OMIM:620094 OMIM:607921 OMIM:608115 OMIM:615517 OMIM:600886 OMIM:615604 OMIM:606159 OMIM:608030 OMIM:614782 OMIM:154020 OMIM:164745 OMIM:133780 OMIM:617904 OMIM:617903 OMIM:615744 OMIM:618557 OMIM:618559 OMIM:617153 OMIM:617829 OMIM:612269 OMIM:617113 OMIM:613060 OMIM:618396 OMIM:607681 OMIM:616461 OMIM:600666 OMIM:601472 OMIM:600794 OMIM:619042 OMIM:614172 OMIM:614038 OMIM:146255 OMIM:607941 OMIM:614430 OMIM:615542 OMIM:187500 OMIM:614429 OMIM:617912 OMIM:614475 OMIM:614474 OMIM:600001 OMIM:615074 OMIM:134600 OMIM:127750 OMIM:606483 OMIM:128230 OMIM:602485 OMIM:125851 OMIM:617343 OMIM:607831 OMIM:613854 OMIM:619122 OMIM:615506 OMIM:613702 OMIM:613704 OMIM:613703 OMIM:615072 OMIM:113100 OMIM:610017 OMIM:615298 OMIM:118100 OMIM:613094 OMIM:617898 OMIM:613711 OMIM:203450 OMIM:607847 OMIM:613107 OMIM:187900 OMIM:173100 OMIM:604271 OMIM:615925 OMIM:607688 OMIM:618940 OMIM:600309 OMIM:617525 OMIM:164200 OMIM:104100 OMIM:186100 OMIM:601885 OMIM:614049 OMIM:108770 OMIM:612474 OMIM:116200 OMIM:601544 OMIM:602540 OMIM:148210 OMIM:148350 OMIM:149200 OMIM:124500 OMIM:612644 OMIM:133200 OMIM:617524 OMIM:129500 OMIM:612643 OMIM:613480 OMIM:615849 OMIM:610829 OMIM:175700 OMIM:146510 OMIM:174200 OMIM:174700 OMIM:138000 OMIM:149400 OMIM:618339 OMIM:606762 OMIM:616835 OMIM:615361 OMIM:145981 OMIM:619854 OMIM:192605 OMIM:602483 OMIM:615073 OMIM:615473 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OMIM:609136 OMIM:611584 OMIM:613266 OMIM:615866 OMIM:613674 OMIM:137940 OMIM:618506 OMIM:616803 OMIM:618971 OMIM:114290 OMIM:620104 OMIM:182601 OMIM:600251 OMIM:145420 OMIM:619312 OMIM:607259 OMIM:619707 OMIM:608189 OMIM:618828 OMIM:618829 OMIM:612716 OMIM:611431 OMIM:616818 OMIM:615266 OMIM:130600 OMIM:613477 OMIM:617948 OMIM:616649 OMIM:619475 OMIM:600224 OMIM:162400 OMIM:613640 OMIM:616437 OMIM:617158 OMIM:167250 OMIM:616937 OMIM:136140 OMIM:619016 OMIM:158310 OMIM:618752 OMIM:614675 OMIM:300643 OMIM:165510 OMIM:617635 OMIM:607876 OMIM:614892 OMIM:614162 OMIM:615952 OMIM:147060 OMIM:618985 OMIM:615234 OMIM:160565 OMIM:185070 OMIM:615934 OMIM:175200 OMIM:619714 OMIM:618093 OMIM:616172 OMIM:612164 OMIM:619480 OMIM:618786 OMIM:270960 OMIM:619381 OMIM:612998 OMIM:612999 OMIM:612621 OMIM:618218 OMIM:616040 OMIM:614980 OMIM:618906 OMIM:619575 OMIM:612069 OMIM:616044 OMIM:617900 OMIM:616439 OMIM:616944 OMIM:602342 OMIM:607136 OMIM:606053 OMIM:188400 OMIM:143400 OMIM:618223 OMIM:611363 OMIM:181450 OMIM:147891 OMIM:142900 OMIM:122600 OMIM:614009 OMIM:607487 OMIM:615314 OMIM:619718 OMIM:618430 OMIM:616941 OMIM:613267 OMIM:610954 OMIM:154500 OMIM:108985 OMIM:601543 OMIM:617272 OMIM:600195 OMIM:616736 OMIM:127550 OMIM:614743 OMIM:613989 OMIM:615134 OMIM:614742 OMIM:618798 OMIM:113620 OMIM:169100 OMIM:617035 OMIM:604484 OMIM:131300 OMIM:614816 OMIM:107970 OMIM:615582 OMIM:602082 OMIM:607541 OMIM:121820 OMIM:122200 OMIM:608471 OMIM:608470 OMIM:121900 OMIM:609192 OMIM:132800 OMIM:614331 OMIM:610168 OMIM:142946 OMIM:613908 OMIM:602629 OMIM:612926 OMIM:614486 OMIM:614450 OMIM:188570 OMIM:145650 OMIM:618734 OMIM:619825 OMIM:619133 OMIM:604454 OMIM:614850 OMIM:619401 OMIM:620015 OMIM:136900 OMIM:613990 OMIM:268130 OMIM:618050 OMIM:613087 OMIM:246300 OMIM:613002 OMIM:615432 OMIM:606705 OMIM:617964 OMIM:607454 OMIM:604400 OMIM:619832 OMIM:614302 OMIM:618688 OMIM:615972 OMIM:615629 OMIM:616744 OMIM:174810 OMIM:602080 OMIM:142680 OMIM:611879 OMIM:613243 OMIM:601680 OMIM:613286 OMIM:613690 OMIM:115210 OMIM:616117 OMIM:601494 OMIM:115195 OMIM:612422 OMIM:618435 OMIM:619556 OMIM:608423 OMIM:618074 OMIM:619243 OMIM:615963 OMIM:619510 OMIM:609923 OMIM:128100 OMIM:202300 OMIM:614740 OMIM:618165 OMIM:151623 OMIM:260500 OMIM:103285 OMIM:106260 OMIM:604292 OMIM:603543 OMIM:129400 OMIM:605289 OMIM:613003 OMIM:611878 OMIM:115196 OMIM:108120 OMIM:609285 OMIM:609284 OMIM:618164 OMIM:225750 OMIM:610448 OMIM:192315 OMIM:617142 OMIM:618667 OMIM:619428 OMIM:618825 OMIM:617061 OMIM:617752 OMIM:615040 OMIM:616410 OMIM:603965 OMIM:618531 OMIM:604559 OMIM:105500 OMIM:190350 OMIM:190351 OMIM:614594 OMIM:616400 OMIM:617383 OMIM:113500 OMIM:606835 OMIM:606071 OMIM:156530 OMIM:168400 OMIM:181405 OMIM:600175 OMIM:184095 OMIM:184252 OMIM:618778 OMIM:618454 OMIM:191100 OMIM:603373 OMIM:609152 OMIM:607842 OMIM:613310 OMIM:604432 OMIM:613820 OMIM:604145 OMIM:613765 OMIM:603689 OMIM:600334 OMIM:105210 OMIM:115430 OMIM:611603 OMIM:617928 OMIM:616208 OMIM:619840 OMIM:615771 OMIM:156610 OMIM:613112 OMIM:615763 OMIM:610031 OMIM:614039 OMIM:600638 OMIM:128101 OMIM:612438 OMIM:617879 OMIM:617732 OMIM:616780 OMIM:615412 OMIM:123100 OMIM:180750 OMIM:617746 OMIM:200110 OMIM:209885 OMIM:609286 OMIM:619959 OMIM:618418 OMIM:121800 OMIM:617672 OMIM:613643 OMIM:142669 OMIM:617974 OMIM:162000 OMIM:615518 OMIM:616279 OMIM:619178 OMIM:619279 OMIM:616863 OMIM:108600 OMIM:618760 OMIM:600145 OMIM:608627 OMIM:182980 OMIM:143200 OMIM:611407 OMIM:613255 OMIM:613954 OMIM:616687 OMIM:167320 OMIM:615907 OMIM:116300 OMIM:619291 OMIM:614203 OMIM:619273 OMIM:614195 OMIM:148300 OMIM:193400 OMIM:613554 OMIM:616708 OMIM:617721 OMIM:618707 OMIM:603563 OMIM:619227 OMIM:617520 OMIM:614858 OMIM:617616 OMIM:618652 OMIM:116400 OMIM:600965 OMIM:614296 OMIM:614492 OMIM:614491 OMIM:150400 OMIM:617073 OMIM:158330 OMIM:194080 OMIM:136680 OMIM:608978 OMIM:256370 OMIM:616413 OMIM:120433 OMIM:608323 OMIM:615127 OMIM:617665 OMIM:617557 OMIM:612337 OMIM:259050 OMIM:619769 OMIM:618674 OMIM:609141 OMIM:235730 OMIM:147430 OMIM:178300 OMIM:616067 OMIM:610244 OMIM:616602 OMIM:618736 OMIM:609637 OMIM:618659 OMIM:619522 OMIM:616083 OMIM:617260 OMIM:619188 OMIM:616468 OMIM:614844 OMIM:618619 OMIM:614167 OMIM:616833 OMIM:610227 OMIM:617712 OMIM:603671 OMIM:617865
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.