Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	A2ML1 CL E G H	144568	23336	OMIM:166760	Otitis media, susceptibility to	.	120
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	A4GALT CL E G H	53947	18149	OMIM:111400	BLOOD GROUP, P1PK SYSTEM		9
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AAGAB CL E G H	79719	25662	OMIM:148600	Palmoplantar keratoderma, punctate type IA		7
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N	.
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCA1 CL E G H	19	29	OMIM:604091	HYPOALPHALIPOPROTEINEMIA, PRIMARY		191
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCA4 CL E G H	24	34	OMIM:153800	Macular degeneration, age-related, 2	.	826
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCA7 CL E G H	10347	37	OMIM:608907	Alzheimer disease 9, susceptibility to	.	3
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3	.	111
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1	.	111
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCB6 CL E G H	10058	47	OMIM:615402	DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3		20
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCB6 CL E G H	10058	47	OMIM:614497	Microphthalmia, isolated, with coloboma 7	.	20
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCB6 CL E G H	10058	47	OMIM:609153	Pseudohyperkalemia, familial, 2, due to red cell leak	.	20
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC1 CL E G H	4363	51	OMIM:618915	DEAFNESS, AUTOSOMAL DOMINANT 77; DFNA77		22
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste	.	415
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC8 CL E G H	6833	59	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	245
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC8 CL E G H	6833	59	OMIM:618857	DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3		245
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC8 CL E G H	6833	59	OMIM:610374	DIABETES MELLITUS, TRANSIENT NEONATAL, 2		245
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1	.	245
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive	.	245
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC9 CL E G H	10060	60	OMIM:614050	Atrial fibrillation, familial, 12	.	254
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC9 CL E G H	10060	60	OMIM:608569	CARDIOMYOPATHY, DILATED, 1O; CMD1O		254
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.	51
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACAN CL E G H	176	319	OMIM:165800	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	.	34
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACAN CL E G H	176	319	OMIM:608361	Spondyloepiphyseal dysplasia, Kimberley type	.	34
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACD CL E G H	65057	25070	OMIM:616553	Dyskeratosis congenita, autosomal dominant 6	.	11
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH		120
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	96
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTA2 CL E G H	59	130	OMIM:611788	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6		94
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTA2 CL E G H	59	130	OMIM:614042	Moyamoya disease 5		94
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome	.	94
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.	72
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset	.	72
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTC1 CL E G H	70	143	OMIM:612794	Atrial septal defect 5	.	208
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R	.	208
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11	.	208
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2		123
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTG1 CL E G H	71	144	OMIM:604717	Deafness, autosomal dominant 20	.	123
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5		23
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1	.	23
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects	.	2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTN1 CL E G H	87	163	OMIM:615193	BLEEDING DISORDER, PLATELET-TYPE, 15; BDPLT15		9
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction		307
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6		307
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTN4 CL E G H	81	166	OMIM:603278	Focal segmental glomerulosclerosis 1	.	27
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.	49
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal	.	161
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADAM10 CL E G H	102	188	OMIM:615537	Reticulate acropigmentation of kitamura	.	7
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADAR CL E G H	103	225	OMIM:127400	Dyschromatosis symmetrica hereditaria 1	.	116
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADCY10 CL E G H	55811	21285	OMIM:143870	Hypercalciuria, absorptive, susceptibility to		5
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia	.	25
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADGRE2 CL E G H	30817	3337	OMIM:125630	Dermodistortive urticaria	.	2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADGRV1 CL E G H	84059	17416	OMIM:604352	Febrile seizures, familial, 4	.	530
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	.	4
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome	.	47
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADRB2 CL E G H	154	286	OMIM:600807	Asthma, susceptibility to	.	5
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADRB2 CL E G H	154	286	OMIM:601665	OBESITY	.	5
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADRB3 CL E G H	155	288	OMIM:601665	OBESITY	.	1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.	6
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AFG3L2 CL E G H	10939	315	OMIM:618977	OPTIC ATROPHY 12; OPA12		86
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28	.	86
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AGBL1 CL E G H	123624	26504	OMIM:615523	Corneal dystrophy, fuchs endothelial, 8	.	3
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AGRP CL E G H	181	330	OMIM:601665	OBESITY	.	1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome	.	36
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	95
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1	.	95
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4	.	114
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AIPL1 CL E G H	23746	359	OMIM:268000	Retinitis pigmentosa	.	114
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKAP9 CL E G H	10142	379	OMIM:611820	Long QT syndrome 11	.	289
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKT1 CL E G H	207	391	OMIM:114480	Breast cancer	.	54
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKT1 CL E G H	207	391	OMIM:114500	Colorectal cancer	.	54
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6		54
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKT1 CL E G H	207	391	OMIM:167000	Ovarian cancer	.	54
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKT2 CL E G H	208	392	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	12
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKT2 CL E G H	208	392	OMIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy	.	12
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKT3 CL E G H	10000	393	OMIM:615937	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2	.	19
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	.	89
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	.	89
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ALDH2 CL E G H	217	404	OMIM:610251	Alcohol sensitivity, acute	.	1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ALG10B CL E G H	144245	31088	OMIM:613688	Long QT syndrome 2	.	3
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ALG5 CL E G H	29880	20266	OMIM:620056
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ALG8 CL E G H	79053	23161	OMIM:617874	POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS; PCLD3		46
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ALOX5 CL E G H	240	435	OMIM:600807	Asthma, susceptibility to	.	4
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss	.
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ALPL CL E G H	249	438	OMIM:146300	Hypophosphatasia, adult	.	126
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ALX4 CL E G H	60529	450	OMIM:615529	Craniosynostosis 5, susceptibility to	.	132
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ALX4 CL E G H	60529	450	OMIM:609597	Parietal foramina 2	.	132
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AMTN CL E G H	401138	33188	OMIM:617607	AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B		1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANG CL E G H	283	483	OMIM:611895	Amyotrophic lateral sclerosis 9		32
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANGPT1 CL E G H	284	484	OMIM:619361	ANGIOEDEMA, HEREDITARY, 5; HAE5		5
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANGPT2 CL E G H	285	485	OMIM:619369	LYMPHATIC MALFORMATION 10; LMPHM10
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANGPTL4 CL E G H	51129	16039	OMIM:615881	PLASMA TRIGLYCERIDE LEVEL QUANTITATIVE TRAIT LOCUS; TGQTL		2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1	.	150
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANK2 CL E G H	287	493	OMIM:600919	Cardiac arrhythmia, ankyrin-b-related	.	539
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANKH CL E G H	56172	15492	OMIM:118600	Chondrocalcinosis 2	.	164
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant	.	164
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.	102
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS		2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANKRD26 CL E G H	22852	29186	OMIM:188000	THROMBOCYTOPENIA 2; THC2		106
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANLN CL E G H	54443	14082	OMIM:616032	Focal segmental glomerulosclerosis 8	.	6
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANO3 CL E G H	63982	14004	OMIM:615034	Dystonia 24	.	17
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANO5 CL E G H	203859	27337	OMIM:166260	Gnathodiaphyseal dysplasia	.	304
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANTXR1 CL E G H	84168	21014	OMIM:602089	Hemangioma, capillary infantile	.	8
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANXA11 CL E G H	311	535	OMIM:617839	Amyotrophic lateral sclerosis 23	.
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANXA5 CL E G H	308	543	OMIM:614391	Pregnancy loss, recurrent, susceptibility to, 3	.	1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AP1S3 CL E G H	130340	18971	OMIM:616106	Psoriasis 15, pustular, susceptibility to		2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AP2M1 CL E G H	1173	564	OMIM:618587	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III	.	6
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AP4E1 CL E G H	23431	573	OMIM:184450	Stuttering, familial persistent, 1	.	48
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APC CL E G H	324	583	OMIM:114500	Colorectal cancer	.	3179
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary	.	3179
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APC CL E G H	324	583	OMIM:619182	GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH; GAPPS		3179
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APCDD1 CL E G H	147495	15718	OMIM:605389	Hypotrichosis 1	.	1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOA1 CL E G H	335	600	OMIM:105200	Amyloidosis, familial visceral	.	40
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOA1 CL E G H	335	600	OMIM:619836	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE		40
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1		9
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V	.	7
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial	.	7
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2		356
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOE CL E G H	348	613	OMIM:104310	Alzheimer disease 2	.	39
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3	.	39
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOE CL E G H	348	613	OMIM:606889	Alzheimer disease 4		39
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1		39
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOL2 CL E G H	23780	619	OMIM:181500	SCHIZOPHRENIA	.
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOL4 CL E G H	80832	14867	OMIM:181500	SCHIZOPHRENIA	.
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APP CL E G H	351	620	OMIM:104300	Alzheimer disease	.	74
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APP CL E G H	351	620	OMIM:605714	Cerebral amyloid angiopathy, APP-related	.	74
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APPL1 CL E G H	26060	24035	OMIM:616511	Maturity-onset diabetes of the young, type 14	.	2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2	.	75
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AQP5 CL E G H	362	638	OMIM:600231	PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB		5
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AR CL E G H	367	644	OMIM:176807	Prostate cancer	.	125
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.	3
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARF1 CL E G H	375	652	OMIM:618185	Periventricular nodular heterotopia 8	.
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARFGEF1 CL E G H	10565	15772	OMIM:619964
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARHGAP26 CL E G H	23092	17073	OMIM:607785	Juvenile myelomonocytic leukemia	.	12
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARHGEF10 CL E G H	9639	14103	OMIM:608236	Slowed nerve conduction velocity, autosomal dominant	.	12
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2	.	88
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARL2 CL E G H	402	693	OMIM:619082	MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1; MRCS1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83		1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARL6 CL E G H	84100	13210	OMIM:268000	Retinitis pigmentosa	.	29
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2		7
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ASB10 CL E G H	136371	17185	OMIM:603383	GLAUCOMA 1, OPEN ANGLE, F; GLC1F		54
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52	.	1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ASPN CL E G H	54829	14872	OMIM:607850	Hand osteoarthritis	.	2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ASPRV1 CL E G H	151516	26321	OMIM:146750	Ichthyosis, lamellar, autosomal dominant	.	1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.	7
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.	5
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATL1 CL E G H	51062	11231	OMIM:613708	Neuropathy, hereditary sensory, type ID	.	71
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.	71
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATL3 CL E G H	25923	24526	OMIM:615632	Neuropathy, hereditary sensory, type IF	.	5
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATM CL E G H	472	795	OMIM:114480	Breast cancer	.	3267
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.	16
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATN1 CL E G H	1822	3033	OMIM:125370	Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia	.	16
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP11A CL E G H	23250	13552	OMIM:619810	DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP1A1 CL E G H	476	799	OMIM:618036	Charcot-Marie-Tooth disease, axonal, type 2DD	.	4
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP1A1 CL E G H	476	799	OMIM:618314	Hypomagnesemia, seizures, and mental retardation 2	.	4
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP1A2 CL E G H	477	800	OMIM:104290	Alternating hemiplegia of childhood 1	.	239
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98		239
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2	.	239
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP1A3 CL E G H	478	801	OMIM:614820	Alternating hemiplegia of childhood 2	.	150
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	.	150
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12	.	150
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP2A2 CL E G H	488	812	OMIM:101900	Acrokeratosis verruciformis	.	86
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease	.	86
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP2B2 CL E G H	491	815	OMIM:619804	DEAFNESS, AUTOSOMAL DOMINANT 82; DFNA82		5
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP2C1 CL E G H	27032	13211	OMIM:169600	Benign chronic pemphigus	.	56
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP6V0A1 CL E G H	535	865	OMIM:619970			1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3	.	3
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant	.	5
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2	.	5
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1	.	144
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial	.	168
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10	.	9
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	.	11
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.	11
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.	14
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar 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:0000006	HP:0000006	Autosomal dominant inheritance	0	ATXN8 CL E G H	724066	32925	OMIM:608768	Spinocerebellar ataxia 8	.	1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATXN8OS CL E G H	6315	10561	OMIM:608768	Spinocerebellar ataxia 8	.	1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AURKA CL E G H	6790	11393	OMIM:114500	Colorectal cancer	.	1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.	61
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AVP CL E G H	551	894	OMIM:125700	Diabetes insipidus, Neurohypophyseal type	.	22
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AXIN2 CL E G H	8313	904	OMIM:114500	Colorectal cancer	.	435
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS		435
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	B2M CL E G H	567	914	OMIM:105200	Amyloidosis, familial visceral	.	8
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BAG3 CL E G H	9531	939	OMIM:613881	Cardiomyopathy, dilated, 1hh	.	204
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.	204
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BAP1 CL E G H	8314	950	OMIM:606661	MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2		184
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BAP1 CL E G H	8314	950	OMIM:614327	Tumor predisposition syndrome	.	184
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BARD1 CL E G H	580	952	OMIM:114480	Breast cancer	.	790
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BAX CL E G H	581	959	OMIM:114500	Colorectal cancer	.	4
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin	.	11
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	.	3
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BCO1 CL E G H	53630	13815	OMIM:115300	Carotenemia, familial	.	2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31	.	1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BEST1 CL E G H	7439	12703	OMIM:153700	Macular dystrophy, vitelliform, 2	.	182
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BEST1 CL E G H	7439	12703	OMIM:613194	Retinitis pigmentosa-50		182
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY	.	182
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BFSP1 CL E G H	631	1040	OMIM:611391	Cataract 33, multiple types	.	15
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BFSP2 CL E G H	8419	1041	OMIM:611597	Cataract, autosomal dominant, multiple types 1	.	27
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BICC1 CL E G H	80114	19351	OMIM:601331	Renal dysplasia, cystic, susceptibility to	.	5
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant	.	46
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.	46
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BLK CL E G H	640	1057	OMIM:613375	Maturity-onset diabetes of the young, type 11	.	75
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BLVRA CL E G H	644	1062	OMIM:614156	Hyperbiliverdinemia	.	2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2		13
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.	13
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome	.	385
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMPR1A CL E G H	657	1076	OMIM:610069	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2		385
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2		90
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1	.	525
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMS1 CL E G H	9790	23505	OMIM:107600	APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC		1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BNC1 CL E G H	646	1081	OMIM:618723	PREMATURE OVARIAN FAILURE 16; POF16
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL		2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRAF CL E G H	673	1097	OMIM:114500	Colorectal cancer	.	276
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRAF CL E G H	673	1097	OMIM:211980	Lung cancer, susceptibility to	.	276
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRAF CL E G H	673	1097	OMIM:155600	Melanoma, cutaneous malignant	.	276
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRCA1 CL E G H	672	1100	OMIM:114480	Breast cancer	.	5769
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRCA1 CL E G H	672	1100	OMIM:604370	Breast-Ovarian cancer, familial, susceptibility to, 1		5769
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRCA2 CL E G H	675	1101	OMIM:114480	Breast cancer	.	7642
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRCA2 CL E G H	675	1101	OMIM:612555	Breast-Ovarian cancer, familial, susceptibility to, 2	.	7642
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRCA2 CL E G H	675	1101	OMIM:155255	MEDULLOBLASTOMA	.	7642
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRCA2 CL E G H	675	1101	OMIM:176807	Prostate cancer	.	7642
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRCA2 CL E G H	675	1101	OMIM:194070	Wilms tumor 1	.	7642
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRIP1 CL E G H	83990	20473	OMIM:114480	Breast cancer	.	1086
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.	10
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C		105
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17	.	105
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2	.	1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BUB1 CL E G H	699	1148	OMIM:114500	Colorectal cancer	.	5
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BUB1B CL E G H	701	1149	OMIM:114500	Colorectal cancer	.	76
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.	114
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	C1QTNF5 CL E G H	114902	14344	OMIM:605670	Late-Onset retinal degeneration	.	20
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.	15
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2	.	7
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5	.	92
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	C9 CL E G H	735	1358	OMIM:615591	MACULAR DEGENERATION, AGE-RELATED, 15; ARMD15		10
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.	56
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42	.	449
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2	.	449
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1	.	449
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6	.	449
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1C CL E G H	775	1390	OMIM:611875	BRUGADA SYNDROME 3; BRGDA3		572
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1C CL E G H	775	1390	OMIM:618447	LONG QT SYNDROME 8; LQT8		572
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	.	572
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	.	51
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69		11
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42		32
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	.	32
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1H CL E G H	8912	1395	OMIM:617027	Hyperaldosteronism, familial, type IV	.	75
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1S CL E G H	779	1397	OMIM:170400	Hypokalemic periodic paralysis, type 1	.	247
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1S CL E G H	779	1397	OMIM:601887	Malignant hyperthermia, susceptibility to, 5	.	247
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1S CL E G H	779	1397	OMIM:188580	Thyrotoxic periodic paralysis, susceptibility to, 1	.	247
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNB2 CL E G H	783	1402	OMIM:611876	BRUGADA SYNDROME 4; BRGDA4		206
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9	.	146
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5	.	146
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNG2 CL E G H	10369	1406	OMIM:614256	Mental retardation, autosomal dominant 10	.	5
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CALCR CL E G H	799	1440	OMIM:166710	OSTEOPOROSIS	.	1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CALM1 CL E G H	801	1442	OMIM:616247	Long QT syndrome 14		18
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CALM1 CL E G H	801	1442	OMIM:614916	Ventricular tachycardia, catecholaminergic polymorphic, 4	.	18
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15	.	13
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CALM3 CL E G H	808	1449	OMIM:618782	LONG QT SYNDROME 16; LQT16		16
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CALR CL E G H	811	1455	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1		1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53	.	1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54	.
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59	.	1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.	34
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4	.	323
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory	.	6
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis	.	45
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CARD14 CL E G H	79092	16446	OMIM:173200	Pityriasis rubra pilaris		33
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CARD14 CL E G H	79092	16446	OMIM:602723	PSORIASIS 2; PSORS2		33
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CARD8 CL E G H	22900	17057	OMIM:619079	INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30		1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CARTPT CL E G H	9607	24323	OMIM:601665	OBESITY	.	1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CASP8 CL E G H	841	1509	OMIM:114480	Breast cancer	.	37
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CASP8 CL E G H	841	1509	OMIM:211980	Lung cancer, susceptibility to	.	37
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CASQ1 CL E G H	844	1512	OMIM:616231	Myopathy, vacuolar, with CASQ1 aggregates	.	5
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CASQ2 CL E G H	845	1513	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		129
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe	.	272
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1		272
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CASR CL E G H	846	1514	OMIM:145980	Hypocalciuric hypercalcemia, familial, type I	.	272
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.	11
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3	.	11
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAV3 CL E G H	859	1529	OMIM:192600	Cardiomyopathy, familial hypertrophic 1	.	148
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAV3 CL E G H	859	1529	OMIM:123320	Creatine phosphokinase, elevated serum	.	148
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAV3 CL E G H	859	1529	OMIM:611818	Long QT syndrome 9		148
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type	.	148
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAV3 CL E G H	859	1529	OMIM:606072	Rippling muscle disease		148
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CBL CL E G H	867	1541	OMIM:607785	Juvenile myelomonocytic leukemia	.	317
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.	317
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CCDC50 CL E G H	152137	18111	OMIM:607453	DEAFNESS, AUTOSOMAL DOMINANT 44; DFNA44		35
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CCDC78 CL E G H	124093	14153	OMIM:614807	Myopathy, centronuclear, 4	.	25
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40	.	54
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CCL11 CL E G H	6356	10610	OMIM:600807	Asthma, susceptibility to	.	2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to	.	3
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CCM2 CL E G H	83605	21708	OMIM:603284	Cerebral cavernous malformations-2		37
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CCND1 CL E G H	595	1582	OMIM:114500	Colorectal cancer	.	1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.	1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CCND2 CL E G H	894	1583	OMIM:615938	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3	.	11
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies	.	3
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CD164 CL E G H	8763	1632	OMIM:616969	DEAFNESS, AUTOSOMAL DOMINANT 66; DFNA66		1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2	.	39
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.	83
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.	6
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDC73 CL E G H	79577	16783	OMIM:145000	Hyperparathyroidism 1	.	169
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2	.	169
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDC73 CL E G H	79577	16783	OMIM:608266	Parathyroid carcinoma		169
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1	.	1003
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDH1 CL E G H	999	1748	OMIM:114480	Breast cancer	.	1003
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDH1 CL E G H	999	1748	OMIM:608089	Endometrial carcinoma, somatic	.	1003
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDH1 CL E G H	999	1748	OMIM:137215	Gastric cancer, hereditary diffuse	.	1003
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDH1 CL E G H	999	1748	OMIM:167000	Ovarian cancer	.	1003
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDH1 CL E G H	999	1748	OMIM:176807	Prostate cancer	.	1003
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDH15 CL E G H	1013	1754	OMIM:612580	MENTAL RETARDATION, AUTOSOMAL DOMINANT 3; MRD3		53
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDH2 CL E G H	1000	1759	OMIM:618920	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDH23 CL E G H	64072	13733	OMIM:617540	Pituitary adenoma 5, multiple types	.	636
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.	8
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDK4 CL E G H	1019	1773	OMIM:609048	Melanoma, cutaneous malignant, susceptibility to, 3	.	145
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV	.	102
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies	.	114
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDKN2A CL E G H	1029	1787	OMIM:155601	Melanoma, cutaneous malignant, susceptibility to, 2	.	289
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDKN2A CL E G H	1029	1787	OMIM:155755	Melanoma-Astrocytoma syndrome	.	289
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDKN2A CL E G H	1029	1787	OMIM:606719	Melanoma-Pancreatic cancer syndrome	.	289
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11		200
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDSN CL E G H	1041	1802	OMIM:146520	Hypotrichosis 2	.	7
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CEACAM16 CL E G H	388551	31948	OMIM:614614	Deafness, autosomal dominant 4B	.	30
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CEBPA CL E G H	1050	1833	OMIM:601626	Leukemia, acute myeloid	.	65
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CEL CL E G H	1056	1848	OMIM:609812	Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction	.	25
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CELSR1 CL E G H	9620	1850	OMIM:619319	LYMPHATIC MALFORMATION 9; LMPHM9		13
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10		1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CES1 CL E G H	1066	1863	OMIM:618057	DRUG METABOLISM, ALTERED, CES1-RELATED		3
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CFAP418 CL E G H	157657	27232	OMIM:268000	Retinitis pigmentosa	.
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1		6
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4	.	30
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal	.	13
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CFH CL E G H	3075	4883	OMIM:126700	Basal laminar drusen	.	86
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CFH CL E G H	3075	4883	OMIM:609814	Complement factor H deficiency	.	86
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.	86
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CFH CL E G H	3075	4883	OMIM:610698	Macular degeneration, age-related, 4		86
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CFHR5 CL E G H	81494	24668	OMIM:614809	Cfhr5 deficiency	.	47
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3	.	57
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13	.	57
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CFTR CL E G H	1080	1884	OMIM:211400	Bronchiectasis with or without elevated sweat chloride 1	.	1371
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary	.	1371
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	.	16
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	.	11
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant	.	11
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type	.	11
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHCHD2 CL E G H	51142	21645	OMIM:616710	Parkinson disease 22, autosomal dominant	.	3
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHD1 CL E G H	1105	1915	OMIM:617682	Pilarowski-Bjornsson syndrome	.	2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHD2 CL E G H	1106	1917	OMIM:615369	EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC		227
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.	2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.	14
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHD7 CL E G H	55636	20626	OMIM:612370	Hypogonadotropic hypogonadism 5 with or without anosmia		515
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18		72
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHEK2 CL E G H	11200	16627	OMIM:114480	Breast cancer	.	833
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHEK2 CL E G H	11200	16627	OMIM:114500	Colorectal cancer	.	833
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHEK2 CL E G H	11200	16627	OMIM:609265	LI-FRAUMENI SYNDROME 2; LFS2		833
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHEK2 CL E G H	11200	16627	OMIM:176807	Prostate cancer	.	833
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHI3L1 CL E G H	1116	1932	OMIM:181500	SCHIZOPHRENIA	.	1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHIC2 CL E G H	26511	1935	OMIM:601626	Leukemia, acute myeloid	.
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7		42
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHMP4B CL E G H	128866	16171	OMIM:605387	Cataract 31, multiple types		4
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHN1 CL E G H	1123	1943	OMIM:604356	DUANE RETRACTION SYNDROME 2; DURS2		35
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel	.	74
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.	74
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNA2 CL E G H	1135	1956	OMIM:610353	Epilepsy, nocturnal frontal lobe, 4	.	188
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNA4 CL E G H	1137	1958	OMIM:600513	Epilepsy, nocturnal frontal lobe, type 1		225
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome	.	52
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel	.	53
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNB2 CL E G H	1141	1962	OMIM:605375	EPILEPSY, NOCTURNAL FRONTAL LOBE, 3; ENFL3		88
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel	.	88
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.	139
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45	.	39
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CILK1 CL E G H	22858	21219	OMIM:617924	Epilepsy, juvenile myoclonic, susceptibility to, 10	.
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CITED2 CL E G H	10370	1987	OMIM:614433	ATRIAL SEPTAL DEFECT 8; ASD8		5
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CITED2 CL E G H	10370	1987	OMIM:614431	Ventricular septal defect 2	.	5
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant	.	133
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CLCN2 CL E G H	1181	2020	OMIM:607628	Epilepsy with grand mal seizures on awakening	.	44
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CLCN2 CL E G H	1181	2020	OMIM:605635	Hyperaldosteronism, familial, type II	.	44
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development	.	102
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2	.	102
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CLPB CL E G H	81570	30664	OMIM:619813	NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN9		38
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CLPX CL E G H	10845	2088	OMIM:618015	Protoporphyria, erythropoietic, 2	.
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CLRN1 CL E G H	7401	12605	OMIM:268000	Retinitis pigmentosa	.	60
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56	.	1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2	.	1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CNGA1 CL E G H	1259	2148	OMIM:268000	Retinitis pigmentosa	.	44
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CNNM2 CL E G H	54805	103	OMIM:613882	Hypomagnesemia 6, renal	.	47
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CNNM2 CL E G H	54805	103	OMIM:616418	Hypomagnesemia, seizures, and mental retardation	.	47
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis	.	2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS		2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS		2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9	.	46
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.	67
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type	.	79
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL11A1 CL E G H	1301	2186	OMIM:618533	DEAFNESS, AUTOSOMAL DOMINANT 37; DFNA37		215
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL11A1 CL E G H	1301	2186	OMIM:604841	Stickler syndrome, type II		215
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL11A2 CL E G H	1302	2187	OMIM:601868	Deafness, autosomal dominant nonsyndromic sensorineural 13	.	222
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2	.	222
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL11A2 CL E G H	1302	2187	OMIM:184840	Stickler syndrome, type III	.	222
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2		65
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2		65
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL17A1 CL E G H	1308	2194	OMIM:122400	Epithelial recurrent erosion dystrophy	.	129
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL18A1 CL E G H	80781	2195	OMIM:618880	GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC		177
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease	.	373
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.	373
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I	.	373
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA	.	373
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.	373
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV	.	373
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A1 CL E G H	1277	2197	OMIM:166710	OSTEOPOROSIS	.	373
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A2 CL E G H	1278	2198	OMIM:619120	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2		243
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2	.	243
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA	.	243
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.	243
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV	.	243
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A2 CL E G H	1278	2198	OMIM:166710	OSTEOPOROSIS	.	243
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II	.	284
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1	.	284
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type	.	284
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	.	284
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.	284
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	2200	OMIM:150600	Legg-Calve-Perthes disease	.	284
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	2200	OMIM:604864	Osteoarthritis with mild chondrodysplasia	.	284
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type	.	284
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.	284
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.	284
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type	.	284
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	2200	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type	.	284
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I		284
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	2200	OMIM:609508	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR		284
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	2200	OMIM:619248	VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA; VPED		284
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A1 CL E G H	1282	2202	OMIM:611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	.	193
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	.	193
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A1 CL E G H	1282	2202	OMIM:618564	MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT; PADMAL		193
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A1 CL E G H	1282	2202	OMIM:180000	Retinal arteries, tortuosity of	.	193
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2		147
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant	.	161
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A3 CL E G H	1285	2204	OMIM:141200	Hematuria, benign familial	.	161
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A4 CL E G H	1286	2206	OMIM:141200	Hematuria, benign familial	.	174
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.	442
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.	478
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.	702
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL7A1 CL E G H	1294	2214	OMIM:131750	Epidermolysis bullosa dystrophica, autosomal dominant	.	263
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL7A1 CL E G H	1294	2214	OMIM:131850	Epidermolysis bullosa dystrophica, pretibial	.	263
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL7A1 CL E G H	1294	2214	OMIM:604129	Epidermolysis bullosa pruriginosa	.	263
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL7A1 CL E G H	1294	2214	OMIM:132000	Epidermolysis bullosa with congenital localized absence of skin anddeformity of nails	.	263
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL7A1 CL E G H	1294	2214	OMIM:607523	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8		263
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL7A1 CL E G H	1294	2214	OMIM:131705	Transient bullous dermolysis of the newborn	.	263
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL8A2 CL E G H	1296	2216	OMIM:136800	Corneal dystrophy, fuchs endothelial, 1	.	3
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL8A2 CL E G H	1296	2216	OMIM:609140	Corneal dystrophy, posterior polymorphous, 2	.	3
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6		110
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2		110
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy		137
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COMP CL E G H	1311	2227	OMIM:619161	CARPAL TUNNEL SYNDROME 2; CTS2		89
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1	.	89
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia	.	89
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COMT CL E G H	1312	2228	OMIM:167870	Panic disorder 1	.	6
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COMT CL E G H	1312	2228	OMIM:181500	SCHIZOPHRENIA	.	6
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK		5
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CORIN CL E G H	10699	19012	OMIM:614595	Preeclampsia/eclampsia 5	.	5
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CPA6 CL E G H	57094	17245	OMIM:614417	Epilepsy, familial temporal lobe, 5	.	49
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.	1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria		72
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CPSF1 CL E G H	29894	2324	OMIM:618827	MYOPIA 27, AUTOSOMAL DOMINANT; MYP27
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CPT1C CL E G H	126129	18540	OMIM:616282	Spastic paraplegia 73, autosomal dominant	.	1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CPT2 CL E G H	1376	2330	OMIM:255110	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced	.	101
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CPT2 CL E G H	1376	2330	OMIM:614212	Encephalopathy, acute, infection-induced, susceptibility to, 4	.	101
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRB1 CL E G H	23418	2343	OMIM:172870	Pigmented paravenous chorioretinal atrophy	.	156
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CREB3L3 CL E G H	84699	18855	OMIM:619324	HYPERTRIGLYCERIDEMIA 2; HYTG2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRELD1 CL E G H	78987	14630	OMIM:606217	Atrioventricular septal defect, susceptibility to, 2	.	19
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2		158
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRX CL E G H	1406	2383	OMIM:268000	Retinitis pigmentosa	.	158
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRY1 CL E G H	1407	2384	OMIM:614163	Delayed sleep phase disorder, susceptibility to	.	1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYAA CL E G H	1409	2388	OMIM:604219	Cataract 9, multiple types	.	33
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYAB CL E G H	1410	2389	OMIM:615184	Cardiomyopathy, dilated, 1ii	.	46
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYAB CL E G H	1410	2389	OMIM:613763	Cataract, posterior polar, 2	.	46
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2	.	46
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYBA1 CL E G H	1411	2394	OMIM:600881	Cataract, congenital zonular, with sutural opacities	.	9
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYBA2 CL E G H	1412	2395	OMIM:115900	Cataract 42	.
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYBA4 CL E G H	1413	2396	OMIM:610425	CATARACT 23, MULTIPLE TYPES; CTRCT23		10
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYBB1 CL E G H	1414	2397	OMIM:611544	Cataract 17, multiple types	.	18
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYBB2 CL E G H	1415	2398	OMIM:601547	Cataract 3, multiple types		13
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYBB3 CL E G H	1417	2400	OMIM:609741	Cataract 22, multiple types	.	22
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYGB CL E G H	1419	2409	OMIM:615188	Cataract, multiple types	.	2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYGC CL E G H	1420	2410	OMIM:604307	Cataract 2, multiple types	.	11
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYGD CL E G H	1421	2411	OMIM:115700	Cataract, crystalline aculeiform	.	29
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYGS CL E G H	1427	2417	OMIM:116100	Cataract, membranous	.	2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYM CL E G H	1428	2418	OMIM:616357	DEAFNESS, AUTOSOMAL DOMINANT 40; DFNA40		15
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids	.	149
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary	.	34
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CSNK1D CL E G H	1453	2452	OMIM:615224	Advanced sleep phase syndrome, familial, 2	.	2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.	12
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CSNK2B CL E G H	1460	2460	OMIM:618732	POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS		2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CSRP3 CL E G H	8048	2472	OMIM:607482	CARDIOMYOPATHY, DILATED, 1M; CMD1M		104
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CSRP3 CL E G H	8048	2472	OMIM:612124	Cardiomyopathy, familial hypertrophic, 12	.	104
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CST3 CL E G H	1471	2475	OMIM:105150	Amyloidosis VI	.	3
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CTBP1 CL E G H	1487	2494	OMIM:617915	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	.	2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CTLA4 CL E G H	1493	2505	OMIM:140300	Hashimoto thyroiditis	.	10
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CTLA4 CL E G H	1493	2505	OMIM:152700	Systemic lupus erythematosus	.	10
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CTNNA1 CL E G H	1495	2509	OMIM:608970	Macular dystrophy, patterned, 2	.	141
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CTNNA3 CL E G H	29119	2511	OMIM:615616	Arrhythmogenic right ventricular dysplasia, familial, 13	.	98
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CTNNB1 CL E G H	1499	2514	OMIM:114500	Colorectal cancer	.	88
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CTNNB1 CL E G H	1499	2514	OMIM:617572	Exudative vitreoretinopathy 7	.	88
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CTNNB1 CL E G H	1499	2514	OMIM:155255	MEDULLOBLASTOMA	.	88
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects	.	88
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CTNNB1 CL E G H	1499	2514	OMIM:167000	Ovarian cancer	.	88
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CTNND1 CL E G H	1500	2515	OMIM:617681	Blepharocheilodontic syndrome 2	.
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary	.	39
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CTSB CL E G H	1508	2527	OMIM:148370	Keratolytic winter erythema	.	1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS		92
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CUL3 CL E G H	8452	2553	OMIM:614496	Pseudohypoaldosteronism, type IIE	.	92
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CUX1 CL E G H	1523	2557	OMIM:618330	Global developmental delay with or without impaired intellectual development	.	1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CUX2 CL E G H	23316	19347	OMIM:618141	Epileptic encephalopathy, early infantile, 67	.
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome	.	9
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CYCS CL E G H	54205	19986	OMIM:612004	Thrombocytopenia 4	.	82
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65		1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CYLD CL E G H	1540	2584	OMIM:605041	Brooke-Spiegler syndrome	.	126
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CYLD CL E G H	1540	2584	OMIM:132700	Cylindromatosis, familial	.	126
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8		126
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CYLD CL E G H	1540	2584	OMIM:601606	Trichoepithelioma, multiple familial, 1	.	126
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CYP11B1 CL E G H	1584	2591	OMIM:103900	Glucocorticoid-Remediable aldosteronism	.	112
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CYP19A1 CL E G H	1588	2594	OMIM:139300	Aromatase excess syndrome	.	60
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CYP2A6 CL E G H	1548	2610	OMIM:122700	Coumarin resistance	.	6
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CYP2A6 CL E G H	1548	2610	OMIM:211980	Lung cancer, susceptibility to	.	6
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CYP2C9 CL E G H	1559	2623	OMIM:122700	Coumarin resistance	.	10
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3		2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DAB1 CL E G H	1600	2661	OMIM:615945	Spinocerebellar ataxia 37	.	4
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2	.	2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DAOA CL E G H	267012	21191	OMIM:181500	SCHIZOPHRENIA	.
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant	.	2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DCC CL E G H	1630	2701	OMIM:114500	Colorectal cancer	.	36
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DCC CL E G H	1630	2701	OMIM:157600	Mirror movements 1	.	36
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DCHS1 CL E G H	8642	13681	OMIM:607829	Mitral valve prolapse, myxomatous 2	.	27
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DCN CL E G H	1634	2705	OMIM:610048	Corneal dystrophy, congenital stromal		31
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1		86
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB	.	86
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome		86
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24	.	33
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DEPDC5 CL E G H	9681	18423	OMIM:604364	Epilepsy, familial focal, with variable foci	.	172
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DES CL E G H	1674	2770	OMIM:604765	CARDIOMYOPATHY, DILATED, 1I; CMD1I		263
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1		263
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DES CL E G H	1674	2770	OMIM:181400	Scapuloperoneal syndrome, neurogenic, Kaeser type	.	263
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome	.
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome	.
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome	.
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities		47
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DHTKD1 CL E G H	55526	23537	OMIM:615025	Charcot-Marie-Tooth disease, axonal, type 2Q	.	12
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language	.	4
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11		2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DIABLO CL E G H	56616	21528	OMIM:614152	Deafness, autosomal dominant 64	.	11
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DIAPH1 CL E G H	1729	2876	OMIM:124900	Deafness, autosomal dominant 1	.	118
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1	.	8
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DICER1 CL E G H	23405	17098	OMIM:138800	Goiter, multinodular 1	.	670
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DICER1 CL E G H	23405	17098	OMIM:601200	PLEUROPULMONARY BLASTOMA; PPB		670
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DIO1 CL E G H	1733	2883	OMIM:619855
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DIP2B CL E G H	57609	29284	OMIM:136630	Mental retardation, Fra12a type	.	4
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DISC2 CL E G H	27184	2889	OMIM:181500	SCHIZOPHRENIA	.
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DLC1 CL E G H	10395	2897	OMIM:114500	Colorectal cancer	.	11
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62		2
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DLL1 CL E G H	28514	2908	OMIM:618709	NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS		3
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6	.	9
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DLST CL E G H	1743	2911	OMIM:618475	Paragangliomas 7	.
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DLX3 CL E G H	1747	2916	OMIM:104510	AMELOGENESIS IMPERFECTA, TYPE IV; AI4		48
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DLX3 CL E G H	1747	2916	OMIM:190320	Trichodentoosseous syndrome	.	48
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15		1
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1		3
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.	152
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DMXL2 CL E G H	23312	2938	OMIM:617605	DEAFNESS, AUTOSOMAL DOMINANT 71; DFNA71		3
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6	.	41
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DNAAF4 CL E G H	161582	21493	OMIM:127700	Dyslexia, susceptibility to, 1	.	27
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DNAJB11 CL E G H	51726	14889	OMIM:618061	Polycystic kidney disease 6 with or without polycystic liver disease	.
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E	.	103
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant	.	155
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DNASE1 CL E G H	1773	2956	OMIM:152700	Systemic lupus erythematosus	.	3
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DNM1 CL E G H	1759	2972	OMIM:616346	Epileptic encephalopathy, early infantile, 31	.	72
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	.	94
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5	.	94
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B	.	167
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	.	145
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE	.	145
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS		44
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DNMT3A CL E G H	1788	2978	OMIM:601626	Leukemia, acute myeloid	.	44
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome	.	44
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33		18
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DPP6 CL E G H	1804	3010	OMIM:612956	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2; VF2		18
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DRD3 CL E G H	1814	3024	OMIM:181500	SCHIZOPHRENIA	.	21
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DRD3 CL E G H	1814	3024	OMIM:190300	Tremor, hereditary essential, 1	.	21
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DRD4 CL E G H	1815	3025	OMIM:143465	Attention deficit-hyperactivity disorder	.	4
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DRD5 CL E G H	1816	3026	OMIM:143465	Attention deficit-hyperactivity disorder	.	3
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DRD5 CL E G H	1816	3026	OMIM:606798	Blepharospasm, benign essential, susceptibility to	.	3
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11	.	268
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DSG1 CL E G H	1828	3048	OMIM:148700	Keratosis palmoplantaris striata I		16
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10	.	358
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DSP CL E G H	1832	3052	OMIM:607450	Arrhythmogenic right ventricular dysplasia, familial, 8	.	747
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	.	747
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DSP CL E G H	1832	3052	OMIM:612908	Keratosis palmoplantaris striata II	.	747
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DSPP CL E G H	1834	3054	OMIM:605594	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1	.	38
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DSPP CL E G H	1834	3054	OMIM:125420	Dentin dysplasia, type II	.	38
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DSPP CL E G H	1834	3054	OMIM:125490	Dentinogenesis imperfecta 1	.	38
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DSPP CL E G H	1834	3054	OMIM:125500	Dentinogenesis imperfecta, shields type III	.	38
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DSTYK CL E G H	25778	29043	OMIM:610805	Congenital anomalies of kidney and urinary tract, susceptibility to	.	13
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1		163
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DUSP6 CL E G H	1848	3072	OMIM:615269	Hypogonadotropic hypogonadism 19 with or without anosmia	.	4
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DYNC1H1 CL E G H	1778	2961	OMIM:614228	Charcot-marie-tooth disease, axonal, type 2O	.	427
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13	.	427
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	.	427
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DYRK1B CL E G H	9149	3092	OMIM:615812	Abdominal obesity-metabolic syndrome 3	.	7
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DZIP1 CL E G H	22873	20908	OMIM:610840	MITRAL VALVE PROLAPSE 3; MVP3
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	.	13
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.	86
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.	56
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EDARADD CL E G H	128178	14341	OMIM:614940	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	.	56
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EDN1 CL E G H	1906	3176	OMIM:612798	Question mark ears, isolated	.	6
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EDN3 CL E G H	1908	3178	OMIM:613712	Hirschsprung disease, susceptibility to, 4	.	67
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B	.	67
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	.	3
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EDNRA CL E G H	1909	3179	OMIM:157300	Migraine with or without aura, susceptibility to, 1	.	3
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EDNRB CL E G H	1910	3180	OMIM:600155	Hirschsprung disease, susceptibility to, 2	.	55
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome	.	55
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33	.	60
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38	.	60
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EEF2 CL E G H	1938	3214	OMIM:609306	Spinocerebellar ataxia 26	.	4
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EFEMP1 CL E G H	2202	3218	OMIM:126600	Doyne honeycomb retinal dystrophy	.	54
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EFHC1 CL E G H	114327	16406	OMIM:607631	Epilepsy, juvenile absence	.	153
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EFHC1 CL E G H	114327	16406	OMIM:254770	Myoclonic epilepsy, juvenile, susceptibility to, 1	.	153
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.	48
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EGFR CL E G H	1956	3236	OMIM:211980	Lung cancer, susceptibility to	.	257
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EGLN1 CL E G H	54583	1232