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