Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CL E G H	105259599	130650	Beckwith-Wiedemann syndrome	130650	C0004903	OMIM	1	28	0
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	A2M CL E G H	2	614036	Alpha-2-macroglobulin deficiency	614036	C3279661	OMIM	1	56	7	103950
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	A4GALT CL E G H	53947	111400	p phenotype	111400	C0599990	OMIM	1	77	18149	607922
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AAGAB CL E G H	79719	148600	Keratosis palmoplantaris papulosa	148600	C1835662	OMIM	1	91	25662	614888
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AARS CL E G H	16	613287	Charcot-Marie-Tooth disease, type 2N	613287	C2750090	OMIM	1		20	601065
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCA1 CL E G H	19	604091	Familial hypoalphalipoproteinemia	604091	C1704429	OMIM	1	993	29	600046
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCA4 CL E G H	24	604116	Cone-rod dystrophy 3	604116	C1858806	OMIM	1	2760	34	601691
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCA5 CL E G H	23461	135400	Gingival fibromatosis with hypertrichosis	135400	C1851120	OMIM	1	51	35	612503
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCB4 CL E G H	5244	600803	Cholecystitis	600803	C0008325	OMIM	1	453	45	171060
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCB4 CL E G H	5244	614972	Cholestasis, intrahepatic, of pregnancy 3	614972	C3554241	OMIM	1	453	45	171060
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCB6 CL E G H	10058	615402	Dyschromatosis universalis hereditaria 3	615402	C3809394	OMIM	1	101	47	605452
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCB6 CL E G H	10058	614497	Microphthalmia, isolated, with coloboma 7	614497	C3281027	OMIM	1	101	47	605452
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCB6 CL E G H	10058	609153	Pseudohyperkalemia, familial, 2, due to red cell leak	609153	C1836705	OMIM	1	101	47	605452
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC6 CL E G H	368	177850	Pseudoxanthoma elasticum, forme fruste	177850	C1867450	OMIM	1	1307	57	603234
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC8 CL E G H	6833	125853	Diabetes mellitus type 2	125853	C0011860	OMIM	1	1569	59	600509
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC8 CL E G H	6833	240800	Leucine-induced hypoglycemia	240800	C0271714	OMIM	1	1569	59	600509
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC8 CL E G H	6833	256450	Persistent hyperinsulinemic hypoglycemia of infancy	256450	C2931832	OMIM	1	1569	59	600509
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC8 CL E G H	6833	610374	Transient neonatal diabetes mellitus 2	610374	C1835887	OMIM	1	1569	59	600509
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC9 CL E G H	10060	614050	Atrial fibrillation, familial, 12	614050	C3279695	OMIM	1	1266	60	601439
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC9 CL E G H	10060	608569	Dilated cardiomyopathy 1O	608569	C1837839	OMIM	1	1266	60	601439
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC9 CL E G H	10060	239850	Hypertrichotic osteochondrodysplasia	239850	C0795905	OMIM	1	1266	60	601439
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	542	319	155760
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACAN CL E G H	176	608361	Spondyloepiphyseal dysplasia, kimberley type	608361	C1842149	OMIM	1	542	319	155760
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACD CL E G H	65057	616553	Dyskeratosis congenita, autosomal dominant 6	616553	C4225284	OMIM	1	834	25070	609377
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	392	129	102610
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTA1 CL E G H	58	616852	Myopathy, scapulohumeroperoneal	616852	C4225181	OMIM	1	392	129	102610
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTA1 CL E G H	58	161800	Nemaline myopathy 3	161800	C3711389	OMIM	1	392	129	102610
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTA2 CL E G H	59	611788	Aortic aneurysm, familial thoracic 6	611788	C2673186	OMIM	1	428	130	102620
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTA2 CL E G H	59	614042	Moyamoya disease 5	614042	C3279690	OMIM	1	428	130	102620
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTA2 CL E G H	59	613834	Multisystemic smooth muscle dysfunction syndrome	613834	C3151201	OMIM	1	428	130	102620
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1	406	132	102630
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTB CL E G H	60	607371	Juvenile-onset dystonia	607371	C1846331	OMIM	1	406	132	102630
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTC1 CL E G H	70	612794	Atrial septal defect 5	612794	C2748552	OMIM	1	607	143	102540
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTC1 CL E G H	70	613424	Dilated cardiomyopathy 1R	613424	C3150681	OMIM	1	607	143	102540
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTC1 CL E G H	70	612098	Familial hypertrophic cardiomyopathy 11	612098	C2677506	OMIM	1	607	143	102540
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTG1 CL E G H	71	604717	Deafness, autosomal dominant 20	604717	C1858172	OMIM	1	412	144	102560
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTG2 CL E G H	72	155310	Visceral myopathy	155310	C1835084	OMIM	1	75	145	102545
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTN1 CL E G H	87	615193	Platelet-type bleeding disorder 15	615193	C3554663	OMIM	1	157	163	102575
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTN2 CL E G H	88	612158	Dilated cardiomyopathy 1AA	612158	C2677338	OMIM	1	1157	164	102573
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTN4 CL E G H	81	603278	Focal segmental glomerulosclerosis 1	603278	C0333497	OMIM	1	235	166	604638
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACVR1 CL E G H	90	135100	Progressive myositis ossificans	135100	C0016037	OMIM	1	169	171	102576
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACVR2B CL E G H	93	613751	Heterotaxy, visceral, 4, autosomal	613751	C3151057	OMIM	1	323	174	602730
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACVRL1 CL E G H	94	600376	Hereditary hemorrhagic telangiectasia type 2	600376	C1838163	OMIM	1	818	175	601284
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADA2 CL E G H	51816	182410	Idiopathic livedo reticularis with systemic involvement	182410	C0282492	OMIM	1	434	1839	607575
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADAM10 CL E G H	102	615537	Reticulate acropigmentation of Kitamura	615537	C0406811	OMIM	1	61	188	602192
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADAR CL E G H	103	127400	Symmetrical dyschromatosis of extremities	127400	C0406775	OMIM	1	818	225	146920
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADCY5 CL E G H	111	606703	Dyskinesia, familial, with facial myokymia	606703	C1847627	OMIM	1	480	236	600293
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADGRE2 CL E G H	30817	125630	Vibratory urticaria	125630	C1852146	OMIM	1	84	3337	606100
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADGRV1 CL E G H	84059	604352	Febrile seizures, familial, 4	604352	C1858493	OMIM	1	3566	17416	602851
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADNP CL E G H	23394	615873	Helsmoortel-van der aa syndrome	615873	C4014538	OMIM	1	356	15766	611386
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADRA2B CL E G H	151	607876	Epilepsy, familial adult myoclonic 2	607876	C1842852	OMIM	1	80	282	104260
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AFF4 CL E G H	27125	616368	Chops syndrome	616368	C4085597	OMIM	1	215	17869	604417
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AGBL1 CL E G H	123624	615523	Corneal dystrophy, Fuchs endothelial, 8	615523	C3809798	OMIM	1	51	26504	615496
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AHDC1 CL E G H	27245	615829	Xia-Gibbs syndrome	615829	C4014419	OMIM	1	455	25230	615790
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	741	358	605555
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AIP CL E G H	9049	102200	Somatotroph adenoma	102200	C0346302	OMIM	1	741	358	605555
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AIRE CL E G H	326	240300	Polyglandular autoimmune syndrome, type 1	240300	C0085859	OMIM	1	822	360	607358
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKAP9 CL E G H	10142	611820	Long QT syndrome 11	611820	C2678483	OMIM	1	1949	379	604001
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKT1 CL E G H	207	114500	Carcinoma of colon	114500	C0699790	OMIM	1	634	391	164730
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	634	391	164730
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKT1 CL E G H	207	114480	Familial cancer of breast	114480	C0346153	OMIM	1	634	391	164730
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKT1 CL E G H	207	167000	Neoplasm of ovary	167000	C0919267	OMIM	1	634	391	164730
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKT2 CL E G H	208	125853	Diabetes mellitus type 2	125853	C0011860	OMIM	1	115	392	164731
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKT2 CL E G H	208	240900	Hypoglycemia, neonatal, simulating foetopathia diabetica	240900	C1855860	OMIM	1	115	392	164731
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKT3 CL E G H	10000	615937	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	615937	C4014738	OMIM	1	282	393	611223
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ALDH18A1 CL E G H	5832	616603	Cutis laxa, autosomal dominant 3	616603	C4225268	OMIM	1	437	9722	138250
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ALDH18A1 CL E G H	5832	601162	Spastic paraplegia 9	601162	C1832669	OMIM	1	437	9722	138250
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ALDH2 CL E G H	217	610251	Acute alcohol sensitivity	610251	C2674838	OMIM	1	39	404	100650
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ALPL CL E G H	249	146300	Adult hypophosphatasia	146300	C0268413	OMIM	1	787	438	171760
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ALX4 CL E G H	60529	609597	Parietal foramina 2	609597	C1865044	OMIM	1	251	450	605420
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANG CL E G H	283	611895	Amyotrophic lateral sclerosis type 9	611895	C2678468	OMIM	1	97	483	105850
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANGPTL3 CL E G H	27329	605019	Hypobetalipoproteinemia, familial, 2	605019	C1857970	OMIM	1	70	491	604774
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANGPTL4 CL E G H	51129	615881	Plasma triglyceride level quantitative trait locus	615881	C4014553	OMIM	1	17	16039	605910
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANK1 CL E G H	286	182900	Spherocytosis type 1	182900	C2674218	OMIM	1	642	492	612641
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANK2 CL E G H	287	600919	Cardiac arrhythmia, ankyrin B-related	600919	C1970119	OMIM	1	2407	493	106410
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANKH CL E G H	56172	118600	Chondrocalcinosis 2	118600	C0856830	OMIM	1	457	15492	605145
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANKH CL E G H	56172	123000	Craniometaphyseal dysplasia, autosomal dominant	123000	C1852502	OMIM	1	457	15492	605145
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANKRD11 CL E G H	29123	148050	KBG syndrome	148050	C0220687	OMIM	1	1515	21316	611192
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANKRD26 CL E G H	22852	188000	Thrombocytopenia 2	188000	C1861185	OMIM	1	438	29186	610855
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANLN CL E G H	54443	616032	Focal segmental glomerulosclerosis 8	616032	C4014993	OMIM	1	269	14082	616027
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANO3 CL E G H	63982	615034	Dystonia 24	615034	C3554374	OMIM	1	352	14004	610110
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANO5 CL E G H	203859	166260	Gnathodiaphyseal dysplasia	166260	C1833736	OMIM	1	972	27337	608662
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AP2S1 CL E G H	1175	600740	Hypocalciuric hypercalcemia, familial, type III	600740	C1833372	OMIM	1	84	565	602242
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AP4E1 CL E G H	23431	184450	Stuttering, familial persistent 1	184450	C3489627	OMIM	1	377	573	607244
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APC CL E G H	324	114500	Carcinoma of colon	114500	C0699790	OMIM	1	11490	583	611731
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APC CL E G H	324	135290	Desmoid disease, hereditary	135290	C1851124	OMIM	1	11490	583	611731
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APC CL E G H	324	175100	Familial adenomatous polyposis 1	175100	C2713442	OMIM	1	11490	583	611731
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APC CL E G H	324	114550	Hepatocellular carcinoma	114550	C2239176	OMIM	1	11490	583	611731
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APCDD1 CL E G H	147495	605389	Hypotrichosis simplex	605389	C1854310	OMIM	1	124	15718	607479
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOA1 CL E G H	335	604091	Familial hypoalphalipoproteinemia	604091	C1704429	OMIM	1	192	600	107680
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOA1 CL E G H	335	105200	Familial visceral amyloidosis, Ostertag type	105200	C0268389	OMIM	1	192	600	107680
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOA5 CL E G H	116519	144650	Familial type 5 hyperlipoproteinemia	144650	C0020481	OMIM	1	142	17288	606368
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOB CL E G H	338	144010	Hypercholesterolemia, autosomal dominant, type B	144010	C1704417	OMIM	1	3071	603	107730
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOE CL E G H	348	104310	Alzheimer disease 2	104310	C1863051	OMIM	1	136	613	107741
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOE CL E G H	348	606889	Alzheimer disease, type 4	606889	C1847200	OMIM	1	136	613	107741
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APP CL E G H	351	104300	Alzheimer's disease	104300	C0002395	OMIM	1	404	620	104760
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APP CL E G H	351	605714	Cerebral amyloid angiopathy, APP-related	605714	C2751536	OMIM	1	404	620	104760
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AQP2 CL E G H	359	125800	Nephrogenic diabetes insipidus, autosomal	125800	C1563706	OMIM	1	285	634	107777
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AQP5 CL E G H	362	600231	Diffuse palmoplantar keratoderma, Bothnian type	600231	C1838359	OMIM	1	53	638	600442
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARCN1 CL E G H	372	617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	617164	C4310686	OMIM	1	123	649	600820
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARHGAP26 CL E G H	23092	607785	Juvenile myelomonocytic leukemia	607785	C0349639	OMIM	1	40	17073	605370
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARHGAP31 CL E G H	57514	100300	Adams-Oliver syndrome 1	100300	CN028867	OMIM	1	243	29216	610911
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARHGEF10 CL E G H	9639	608236	Slowed nerve conduction velocity, autosomal dominant	608236	C1842357	OMIM	1	511	14103	608136
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARID1A CL E G H	8289	614607	Mental retardation, autosomal dominant 14	614607	C3553247	OMIM	1	545	11110	603024
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	1206	18040	614556
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARMC5 CL E G H	79798	615954	Acth-independent macronodular adrenal hyperplasia 2	615954	C4014803	OMIM	1	100	25781	615549
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ASAH1 CL E G H	427	159950	Jankovic Rivera syndrome	159950	C1834569	OMIM	1	712	735	613468
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ASB10 CL E G H	136371	603383	Glaucoma 1, open angle, F	603383	C1863926	OMIM	1	166	17185	615054
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ASCL1 CL E G H	429	209880	Congenital central hypoventilation	209880	C1275808	OMIM	1	32	738	100790
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ASH1L CL E G H	55870	617796	MENTAL RETARDATION, AUTOSOMAL DOMINANT 52	617796	C4540478	OMIM	1	242	19088	607999
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	503	18318	612990
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	232	23805	612991
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	292	25567	612316
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATL1 CL E G H	51062	613708	Hereditary sensory neuropathy type 1D	613708	C3150972	OMIM	1	408	11231	606439
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATL1 CL E G H	51062	182600	Spastic paraplegia 3	182600	C2931355	OMIM	1	408	11231	606439
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATL3 CL E G H	25923	615632	Hereditary sensory neuropathy type IF	615632	C3810194	OMIM	1	340	24526	609369
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATN1 CL E G H	1822	125370	Dentatorubral pallidoluysian atrophy	125370	C0751781	OMIM	1	113	3033	607462
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP1A2 CL E G H	477	104290	Alternating hemiplegia of childhood 1	104290	C3549447	OMIM	1	918	800	182340
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP1A2 CL E G H	477	602481	Familial hemiplegic migraine type 2	602481	C1865322	OMIM	1	918	800	182340
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP1A3 CL E G H	478	614820	Alternating hemiplegia of childhood 2	614820	C3553788	OMIM	1	790	801	182350
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP1A3 CL E G H	478	601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss	601338	C1832466	OMIM	1	790	801	182350
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP1A3 CL E G H	478	128235	Dystonia 12	128235	C1868681	OMIM	1	790	801	182350
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP2A2 CL E G H	488	101900	Acrokeratosis verruciformis of Hopf	101900	C0265971	OMIM	1	189	812	108740
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP2A2 CL E G H	488	124200	Keratosis follicularis	124200	C0022595	OMIM	1	189	812	108740
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP2C1 CL E G H	27032	169600	Familial benign pemphigus	169600	C0085106	OMIM	1	172	13211	604384
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP6V1B2 CL E G H	526	124480	Deafness, congenital, with onychodystrophy, autosomal dominant	124480	C2675730	OMIM	1	129	854	606939
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP6V1B2 CL E G H	526	616455	Zimmermann-Laband syndrome 2	616455	C4225321	OMIM	1	129	854	606939
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP8B1 CL E G H	5205	147480	Cholestasis of pregnancy	147480	C0268318	OMIM	1	509	3706	602397
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATR CL E G H	545	614564	Cutaneous telangiectasia and cancer syndrome, familial	614564	C3281203	OMIM	1	2273	882	601215
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	86	10548	601556
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATXN10 CL E G H	25814	603516	Spinocerebellar ataxia 10	603516	C1963674	OMIM	1	108	10549	611150
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	53	10555	601517
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	46	7106	607047
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATXN7 CL E G H	6314	164500	Spinocerebellar ataxia 7	164500	C0752125	OMIM	1	42	10560	607640
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATXN8 CL E G H	724066	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	2	32925	613289
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATXN8OS CL E G H	6315	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	79	10561	603680
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	511	14262	607270
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AVP CL E G H	551	125700	Neurohypophyseal diabetes insipidus	125700	C0687720	OMIM	1	78	894	192340
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AXIN1 CL E G H	8312	114550	Hepatocellular carcinoma	114550	C2239176	OMIM	1	91	903	603816
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AXIN2 CL E G H	8313	114500	Carcinoma of colon	114500	C0699790	OMIM	1	2777	904	604025
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AXIN2 CL E G H	8313	608615	Oligodontia-colorectal cancer syndrome	608615	C1837750	OMIM	1	2777	904	604025
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AXL CL E G H	558	146110	Hypogonadotropic hypogonadism 7 with or without anosmia	146110	C0342384	OMIM	1	105	905	109135
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	B2M CL E G H	567	105200	Familial visceral amyloidosis, Ostertag type	105200	C0268389	OMIM	1	45	914	109700
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BAG3 CL E G H	9531	613881	Dilated cardiomyopathy 1HH	613881	C3151293	OMIM	1	856	939	603883
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	856	939	603883
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BAP1 CL E G H	8314	614327	Tumor susceptibility linked to germline BAP1 mutations	614327	C3280492	OMIM	1	2132	950	603089
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BCL11A CL E G H	53335	617101	Intellectual developmental disorder with persistence of fetal hemoglobin	617101	C4310833	OMIM	1	154	13221	606557
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BCL11B CL E G H	64919	617237	Immunodeficiency 49	617237	C4310656	OMIM	1	330	13222	606558
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BCO1 CL E G H	53630	115300	Hypercarotenemia and vitamin a deficiency, autosomal dominant	115300	C2676023	OMIM	1	106	13815	605748
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BEAN1 CL E G H	146227	117210	Spinocerebellar ataxia 31	117210	C1861736	OMIM	1	35	24160	612051
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BEST1 CL E G H	7439	613194	Retinitis pigmentosa 50	613194	C2750788	OMIM	1	668	12703	607854
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BEST1 CL E G H	7439	153700	Vitelliform macular dystrophy type 2	153700	C0339510	OMIM	1	668	12703	607854
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BEST1 CL E G H	7439	193220	Vitreoretinochoroidopathy	193220	C1860406	OMIM	1	668	12703	607854
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BFSP1 CL E G H	631	611391	Cataract 33, multiple types	611391	C3808107	OMIM	1	129	1040	603307
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BFSP2 CL E G H	8419	611597	Cataract 12, multiple types	611597	C3808115	OMIM	1	111	1041	603212
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BICD2 CL E G H	23299	615290	Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant	615290	C3809049	OMIM	1	590	17208	609797
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BLK CL E G H	640	613375	Maturity-onset diabetes of the young, type 11	613375	C3150618	OMIM	1	365	1057	191305
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BLVRA CL E G H	644	614156	Hyperbiliverdinemia	614156	C3279964	OMIM	1	30	1062	109750
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMP15 CL E G H	9210	300510	Ovarian dysgenesis 2	300510	C1845294	OMIM	1	195	1068	300247
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMP2 CL E G H	650	112600	Type A2 brachydactyly	112600	C1832702	OMIM	1	128	1069	112261
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMP4 CL E G H	652	607932	Microphthalmia syndromic 6	607932	C1864689	OMIM	1	143	1071	112262
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMPR1A CL E G H	657	610069	Hereditary mixed polyposis syndrome 2	610069	C1864730	OMIM	1	1912	1076	601299
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMPR1A CL E G H	657	174900	Juvenile polyposis syndrome	174900	C0345893	OMIM	1	1912	1076	601299
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMPR1B CL E G H	658	616849	Brachydactyly, type a1, d	616849	C4225183	OMIM	1	295	1077	603248
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMPR1B CL E G H	658	112600	Type A2 brachydactyly	112600	C1832702	OMIM	1	295	1077	603248
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMPR2 CL E G H	659	178600	Primary pulmonary hypertension	178600	C0152171	OMIM	1	947	1078	600799
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMPR2 CL E G H	659	265450	Pulmonary veno-occlusive disease	265450	C0034091	OMIM	1	947	1078	600799
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMS1 CL E G H	9790	107600	Aplasia cutis congenita	107600	C0282160	OMIM	1	57	23505	611448
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	948	1097	164757
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRAF CL E G H	673	613707	LEOPARD syndrome 3	613707	C3150971	OMIM	1	948	1097	164757
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRAF CL E G H	673	211980	Lung cancer	211980	C0684249	OMIM	1	948	1097	164757
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRAF CL E G H	673	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	948	1097	164757
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRAF CL E G H	673	613706	Noonan syndrome 7	613706	C3150970	OMIM	1	948	1097	164757
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRCA1 CL E G H	672	114480	Familial cancer of breast	114480	C0346153	OMIM	1	13451	1100	113705
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRCA2 CL E G H	675	194070	Wilms tumor 1	194070	CN033288	OMIM	1	16438	1101	600185
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRPF1 CL E G H	7862	617333	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	C4310617	OMIM	1	209	14255	602410
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BSCL2 CL E G H	26580	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1	435	15832	606158
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BSCL2 CL E G H	26580	270685	Spastic paraplegia 17	270685	CN074197	OMIM	1	435	15832	606158
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BUB1B CL E G H	701	114500	Carcinoma of colon	114500	C0699790	OMIM	1	1250	1149	602860
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	C1QTNF5 CL E G H	114902	605670	Late-onset retinal degeneration	605670	C1854065	OMIM	1	605	14344	608752
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	C1R CL E G H	715	130080	Ehlers-Danlos syndrome, type 8	130080	C0268347	OMIM	1	115	1246	613785
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	C1S CL E G H	716	617174	Ehlers-Danlos syndrome, periodontal type, 2	617174	C4310681	OMIM	1	254	1247	120580
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	C9orf72 CL E G H	203228	105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	105550	C1862937	OMIM	1	173	28337	614260
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CA12 CL E G H	771	143860	Hyperchlorhidrosis, isolated	143860	C1840437	OMIM	1	57	1371	603263
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CA4 CL E G H	762	600852	Retinitis pigmentosa 17	600852	C1833245	OMIM	1	225	1375	114760
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1A CL E G H	773	617106	Epileptic encephalopathy, early infantile, 42	617106	C4310716	OMIM	1	2689	1388	601011
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1A CL E G H	773	108500	Episodic ataxia type 2	108500	C1720416	OMIM	1	2689	1388	601011
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1A CL E G H	773	141500	Familial hemiplegic migraine type 1	141500	C1832884	OMIM	1	2689	1388	601011
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1A CL E G H	773	183086	Spinocerebellar ataxia 6	183086	C0752124	OMIM	1	2689	1388	601011
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1B CL E G H	774	614860	Dystonia 23	614860	C3538999	OMIM	1	469	1389	601012
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1C CL E G H	775	611875	Brugada syndrome 3	611875	C2678478	OMIM	1	2235	1390	114205
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1C CL E G H	775	601005	Timothy syndrome	601005	C1832916	OMIM	1	2235	1390	114205
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1D CL E G H	776	615474	Primary aldosteronism, seizures, and neurologic abnormalities	615474	C3809609	OMIM	1	1031	1391	114206
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1G CL E G H	8913	616795	Spinocerebellar ataxia 42	616795	C4225205	OMIM	1	445	1394	604065
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1H CL E G H	8912	617027	Hyperaldosteronism, familial, type IV	617027	C4310756	OMIM	1	2526	1395	607904
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1S CL E G H	779	170400	Hypokalemic periodic paralysis 1	170400	C3714580	OMIM	1	1504	1397	114208
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNB2 CL E G H	783	611876	Brugada syndrome 4	611876	C2678477	OMIM	1	714	1402	600003
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNB4 CL E G H	785	613855	Episodic ataxia, type 5	613855	C1866039	OMIM	1	312	1404	601949
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNG2 CL E G H	10369	614256	Mental retardation, autosomal dominant 10	614256	C3280284	OMIM	1	48	1406	602911
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CALM1 CL E G H	801	616247	Long QT syndrome 14	616247	C4015671	OMIM	1	121	1442	114180
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CALM1 CL E G H	801	614916	Ventricular tachycardia, catecholaminergic polymorphic, 4	614916	C3554047	OMIM	1	121	1442	114180
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CALM2 CL E G H	805	616249	Long QT syndrome 15	616249	C4015695	OMIM	1	134	1445	114182
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CALR CL E G H	811	187950	Essential thrombocythemia	187950	C0040028	OMIM	1	44	1455	109091
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CALR CL E G H	811	254450	Myelofibrosis	254450	C0001815	OMIM	1	44	1455	109091
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAMK2A CL E G H	815	617798	MENTAL RETARDATION, AUTOSOMAL DOMINANT 53	617798	C4540481	OMIM	1	77	1460	114078
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAMK2B CL E G H	816	617799	MENTAL RETARDATION, AUTOSOMAL DOMINANT 54	617799	C4540484	OMIM	1	371	1461	607707
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAMTA1 CL E G H	23261	614756	Cerebellar ataxia, nonprogressive, with mental retardation	614756	C3553661	OMIM	1	334	18806	611501
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAPN5 CL E G H	726	193235	Vitreoretinopathy, neovascular inflammatory	193235	C0242852	OMIM	1	406	1482	602537
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CARD11 CL E G H	84433	616452	B-cell expansion with NFKB and T-cell anergy	616452	CN231446	OMIM	1	660	16393	607210
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CARD14 CL E G H	79092	173200	Pityriasis rubra pilaris	173200	C0032027	OMIM	1	796	16446	607211
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CARD14 CL E G H	79092	602723	Psoriasis susceptibility 2	602723	C1864497	OMIM	1	796	16446	607211
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CASP10 CL E G H	843	603909	Autoimmune lymphoproliferative syndrome, type 2A	603909	C1858968	OMIM	1	385	1500	601762
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CASP8 CL E G H	841	114550	Hepatocellular carcinoma	114550	C2239176	OMIM	1	257	1509	601763
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CASQ1 CL E G H	844	616231	Myopathy, vacuolar, with casq1 aggregates	616231	C4015624	OMIM	1	166	1512	114250
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CASQ2 CL E G H	845	604772	Catecholaminergic polymorphic ventricular tachycardia type 1	604772	C4053736	OMIM	1	516	1513	114251
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CASR CL E G H	846	601198	Hypocalcemia, autosomal dominant 1	601198	C0342345	OMIM	1	2039	1514	601199
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CASR CL E G H	846	145980	Hypocalciuric hypercalcemia, familial, type 1	145980	C0342637	OMIM	1	2039	1514	601199
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CASR CL E G H	846	239200	Neonatal severe hyperparathyroidism	239200	C1832615	OMIM	1	2039	1514	601199
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAV1 CL E G H	857	606721	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	606721	C1847582	OMIM	1	115	1527	601047
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAV1 CL E G H	857	615343	Primary pulmonary hypertension 3	615343	C3809192	OMIM	1	115	1527	601047
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAV3 CL E G H	859	614321	Distal myopathy, Tateyama type	614321	C3280443	OMIM	1	390	1529	601253
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	390	1529	601253
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAV3 CL E G H	859	192600	Familial hypertrophic cardiomyopathy 1	192600	C3495498	OMIM	1	390	1529	601253
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAV3 CL E G H	859	611818	Long QT syndrome 9	611818	C2678485	OMIM	1	390	1529	601253
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	390	1529	601253
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CBFB CL E G H	865	601626	Acute myeloid leukemia	601626	C0023467	OMIM	1	47	1539	121360
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CBL CL E G H	867	607785	Juvenile myelomonocytic leukemia	607785	C0349639	OMIM	1	1056	1541	165360
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CBL CL E G H	867	613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	613563	C3150803	OMIM	1	1056	1541	165360
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CBX2 CL E G H	84733	613080	46,XY sex reversal, type 5	613080	C2751317	OMIM	1	62	1552	602770
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CCDC141 CL E G H	285025	146110	Hypogonadotropic hypogonadism 7 with or without anosmia	146110	C0342384	OMIM	1	179	26821	616031
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CCDC50 CL E G H	152137	607453	Deafness, autosomal dominant 44	607453	C1843895	OMIM	1	213	18111	611051
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CCDC78 CL E G H	124093	614807	Myopathy, centronuclear, 4	614807	C3553709	OMIM	1	458	14153	614666
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CCDC88C CL E G H	440193	616053	Spinocerebellar ataxia 40	616053	CN252333	OMIM	1	279	19967	611204
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CCM2 CL E G H	83605	603284	Cerebral cavernous malformations 2	603284	C1864041	OMIM	1	249	21708	607929
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CCND2 CL E G H	894	615938	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	615938	C4014742	OMIM	1	120	1583	123833
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CD164 CL E G H	8763	616969	Deafness, autosomal dominant 66	616969	C4283893	OMIM	1	85	1632	603356
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CD19 CL E G H	930	240500	Common variable immunodeficiency 2	240500	C3150354	OMIM	1	325	1633	107265
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	202	1663	173510
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDC73 CL E G H	79577	145000	Hyperparathyroidism 1	145000	C1840402	OMIM	1	1148	16783	607393
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDC73 CL E G H	79577	145001	Hyperparathyroidism 2	145001	C1704981	OMIM	1	1148	16783	607393
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDC73 CL E G H	79577	608266	Parathyroid carcinoma	608266	C0687150	OMIM	1	1148	16783	607393
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDH1 CL E G H	999	119580	Ectropion inferior cleft lip and or palate	119580	C1861536	OMIM	1	3555	1748	192090
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDH1 CL E G H	999	137215	Hereditary diffuse gastric cancer	137215	C1708349	OMIM	1	3555	1748	192090
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDH1 CL E G H	999	167000	Neoplasm of ovary	167000	C0919267	OMIM	1	3555	1748	192090
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDH15 CL E G H	1013	612580	Mental retardation, autosomal dominant 3	612580	C2675488	OMIM	1	210	1754	114019
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDK13 CL E G H	8621	617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	617360	C4479246	OMIM	1	252	1733	603309
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDKN1B CL E G H	1027	610755	Multiple endocrine neoplasia, type 4	610755	C1970712	OMIM	1	749	1785	600778
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDKN1C CL E G H	1028	130650	Beckwith-Wiedemann syndrome	130650	C0004903	OMIM	1	912	1786	600856
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDKN1C CL E G H	1028	614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies	614732	C1846009	OMIM	1	912	1786	600856
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDKN2A CL E G H	1029	155755	Melanoma astrocytoma syndrome	155755	C1835042	OMIM	1	1217	1787	600160
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDKN2A CL E G H	1029	606719	Melanoma-pancreatic cancer syndrome	606719	C1838547	OMIM	1	1217	1787	600160
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDON CL E G H	50937	614226	Holoprosencephaly 11	614226	C3280215	OMIM	1	545	17104	608707
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDSN CL E G H	1041	146520	Hypotrichosis 2	146520	C1840299	OMIM	1	86	1802	602593
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CEACAM16 CL E G H	388551	614614	Deafness, autosomal dominant 4b	614614	C3281297	OMIM	1	165	31948	614591
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CEBPA CL E G H	1050	601626	Acute myeloid leukemia	601626	C0023467	OMIM	1	742	1833	116897
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CEL CL E G H	1056	609812	Maturity-onset diabetes of the young, type 8	609812	C1853297	OMIM	1	175	1848	114840
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CFC1 CL E G H	55997	605376	Heterotaxy, visceral, 2, autosomal	605376	C1415817	OMIM	1	37	18292	605194
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CFH CL E G H	3075	126700	Basal laminar drusen	126700	C0730295	OMIM	1	487	4883	134370
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CFH CL E G H	3075	609814	Factor H deficiency	609814	C0398777	OMIM	1	487	4883	134370
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CFHR5 CL E G H	81494	614809	CFHR5 deficiency	614809	C3553720	OMIM	1	168	24668	608593
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHAMP1 CL E G H	283489	616579	Mental retardation, autosomal dominant 40	616579	C4225275	OMIM	1	216	20311	616327
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHCHD10 CL E G H	400916	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	615911	C4014648	OMIM	1	248	15559	615903
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHCHD10 CL E G H	400916	616209	Myopathy, isolated mitochondrial, autosomal dominant	616209	C4015513	OMIM	1	248	15559	615903
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHCHD10 CL E G H	400916	615048	Spinal muscular atrophy, jokela type	615048	C3554398	OMIM	1	248	15559	615903
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHCHD2 CL E G H	51142	616710	Parkinson disease 22, autosomal dominant	616710	C4225238	OMIM	1	72	21645	616244
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHD2 CL E G H	1106	615369	Epileptic encephalopathy, childhood-onset	615369	C3809278	OMIM	1	1526	1917	602119
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHD4 CL E G H	1108	617159	Sifrim-Hitz-Weiss syndrome	617159	C4310688	OMIM	1	296	1919	603277
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	2318	20626	608892
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHD7 CL E G H	55636	612370	Kallmann syndrome 5	612370	C2675302	OMIM	1	2318	20626	608892
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHEK2 CL E G H	11200	609265	Li-Fraumeni syndrome 2	609265	C1836482	OMIM	1	3267	16627	604373
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHMP2B CL E G H	25978	614696	Amyotrophic lateral sclerosis 17	614696	C1836076	OMIM	1	141	24537	609512
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHMP2B CL E G H	25978	600795	Frontotemporal Dementia, Chromosome 3-Linked	600795	C1833296	OMIM	1	141	24537	609512
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHMP4B CL E G H	128866	605387	Cataract, posterior polar, 3	605387	C1854311	OMIM	1	40	16171	610897
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHN1 CL E G H	1123	604356	Duane syndrome type 2	604356	C0751083	OMIM	1	121	1943	118423
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	398	1955	100690
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	398	1955	100690
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNA2 CL E G H	1135	610353	Epilepsy, nocturnal frontal lobe, type 4	610353	C1835905	OMIM	1	639	1956	118502
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNA4 CL E G H	1137	600513	Epilepsy, nocturnal frontal lobe, type 1	600513	C1838049	OMIM	1	905	1958	118504
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNA7 CL E G H	1139	612001	15q13.3 microdeletion syndrome	612001	C2677613	OMIM	1	347	1960	118511
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	357	1961	100710
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNB2 CL E G H	1141	605375	Epilepsy, nocturnal frontal lobe, type 3	605375	C1854335	OMIM	1	433	1962	118507
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	408	1965	100720
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	795	1966	100725
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHST3 CL E G H	9469	143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	143095	C1840471	OMIM	1	352	1971	603799
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CIC CL E G H	23152	617600	MENTAL RETARDATION, AUTOSOMAL DOMINANT 45	617600	C4539848	OMIM	1	258	14214	612082
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CIITA CL E G H	4261	209920	Bare lymphocyte syndrome 2	209920	C2931418	OMIM	1	1058	7067	600005
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CITED2 CL E G H	10370	614433	Atrial septal defect 8	614433	C3280790	OMIM	1	45	1987	602937
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CITED2 CL E G H	10370	614431	Ventricular septal defect 2	614431	C3280783	OMIM	1	45	1987	602937
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CLCN1 CL E G H	1180	160800	Congenital myotonia, autosomal dominant form	160800	C2936781	OMIM	1	870	2019	118425
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CLCN7 CL E G H	1186	166600	Osteopetrosis autosomal dominant type 2	166600	C3179239	OMIM	1	729	2025	602727
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CLPX CL E G H	10845	618015	PROTOPORPHYRIA, ERYTHROPOIETIC, 2	618015	CN248523	OMIM	1	45	2088	615611
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CNBP CL E G H	7555	602668	Myotonic dystrophy type 2	602668	C2931689	OMIM	1	18	13164	116955
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CNNM2 CL E G H	54805	613882	Hypomagnesemia 6, renal	613882	C3151295	OMIM	1	218	103	607803
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CNNM2 CL E G H	54805	616418	Hypomagnesemia, seizures, and mental retardation	616418	C4225333	OMIM	1	218	103	607803
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COCH CL E G H	1690	601369	Deafness, autosomal dominant 9	601369	C1832425	OMIM	1	203	2180	603196
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL10A1 CL E G H	1300	156500	Metaphyseal chondrodysplasia, Schmid type	156500	C0265289	OMIM	1	295	2185	120110
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL11A1 CL E G H	1301	154780	Marshall syndrome	154780	C0265235	OMIM	1	1671	2186	120280
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL11A1 CL E G H	1301	604841	Stickler syndrome, type 2	604841	C1858084	OMIM	1	1671	2186	120280
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL11A2 CL E G H	1302	601868	Deafness, autosomal dominant 13	601868	C1866095	OMIM	1	1240	2187	120290
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL11A2 CL E G H	1302	614524	Fibrochondrogenesis 2	614524	C3281128	OMIM	1	1240	2187	120290
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL11A2 CL E G H	1302	184840	Stickler syndrome, type 3	184840	C1861481	OMIM	1	1240	2187	120290
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL17A1 CL E G H	1308	122400	Epithelial recurrent erosion dystrophy	122400	C1852551	OMIM	1	419	2194	113811
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A1 CL E G H	1277	130060	Ehlers-Danlos syndrome, procollagen proteinase deficient	130060	C0268345	OMIM	1	2016	2197	120150
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A1 CL E G H	1277	114000	Infantile cortical hyperostosis	114000	C0020497	OMIM	1	2016	2197	120150
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	2016	2197	120150
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A1 CL E G H	1277	259420	Osteogenesis imperfecta type III	259420	C0268362	OMIM	1	2016	2197	120150
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A1 CL E G H	1277	166220	Osteogenesis imperfecta with normal sclerae, dominant form	166220	C0268363	OMIM	1	2016	2197	120150
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A1 CL E G H	1277	166210	Osteogenesis imperfecta, recessive perinatal lethal	166210	C0268360	OMIM	1	2016	2197	120150
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A2 CL E G H	1278	259420	Osteogenesis imperfecta type III	259420	C0268362	OMIM	1	1458	2198	120160
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A2 CL E G H	1278	166220	Osteogenesis imperfecta with normal sclerae, dominant form	166220	C0268363	OMIM	1	1458	2198	120160
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A2 CL E G H	1278	166210	Osteogenesis imperfecta, recessive perinatal lethal	166210	C0268360	OMIM	1	1458	2198	120160
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	200610	Achondrogenesis, type II	200610	C0220685	OMIM	1	1820	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	608805	Avascular necrosis of the head of femur	608805	C0410480	OMIM	1	1820	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	150600	Coxa plana	150600	C0023234	OMIM	1	1820	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1820	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	132450	C1851536	OMIM	1	1820	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	156550	Kniest dysplasia	156550	C0265279	OMIM	1	1820	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	604864	Osteoarthritis with mild chondrodysplasia	604864	C1858079	OMIM	1	1820	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	151210	Platyspondylic lethal skeletal dysplasia Torrance type	151210	C1835437	OMIM	1	1820	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	183900	Spondyloepiphyseal dysplasia	183900	C0038015	OMIM	1	1820	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	616583	Spondyloepiphyseal dysplasia, stanescu type	616583	C4225273	OMIM	1	1820	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	184250	Spondylometaphyseal dysplasia	184250	C0700635	OMIM	1	1820	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	271700	Spondyloperipheral dysplasia	271700	C0796173	OMIM	1	1820	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	108300	Stickler syndrome type 1	108300	C2020284	OMIM	1	1820	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	609508	Stickler syndrome, type I, nonsyndromic ocular	609508	C1836080	OMIM	1	1820	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL3A1 CL E G H	1281	130050	Ehlers-Danlos syndrome, type 4	130050	C0268338	OMIM	1	2274	2201	120180
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A1 CL E G H	1282	611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	611773	C2673195	OMIM	1	1258	2202	120130
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A1 CL E G H	1282	607595	Brain small vessel disease with hemorrhage	607595	C1843512	OMIM	1	1258	2202	120130
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	1258	2202	120130
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A1 CL E G H	1282	180000	Retinal arteries, tortuosity of	180000	C1867327	OMIM	1	1258	2202	120130
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A2 CL E G H	1284	614483	Porencephaly 2	614483	C3280970	OMIM	1	992	2203	120090
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A3 CL E G H	1285	104200	Alport syndrome, autosomal dominant	104200	C1567743	OMIM	1	1667	2204	120070
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A3 CL E G H	1285	141200	Benign familial hematuria	141200	C0241908	OMIM	1	1667	2204	120070
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A3BP CL E G H	10087	616351	Mental retardation, autosomal dominant 34	616351	C4225156	OMIM	1		2205	604677
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A4 CL E G H	1286	141200	Benign familial hematuria	141200	C0241908	OMIM	1	1863	2206	120131
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL5A1 CL E G H	1289	130000	Ehlers-Danlos syndrome, classic type	130000	C0268335	OMIM	1	2531	2209	120215
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL6A1 CL E G H	1291	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1470	2211	120220
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL6A1 CL E G H	1291	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1470	2211	120220
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL6A2 CL E G H	1292	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1644	2212	120240
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL6A2 CL E G H	1292	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1644	2212	120240
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL6A3 CL E G H	1293	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	2414	2213	120250
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL6A3 CL E G H	1293	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	2414	2213	120250
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL7A1 CL E G H	1294	132000	Dominant dystrophic epidermolysis bullosa with absence of skin	132000	C0268371	OMIM	1	2616	2214	120120
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL7A1 CL E G H	1294	604129	Epidermolysis bullosa pruriginosa	604129	C1275114	OMIM	1	2616	2214	120120
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL7A1 CL E G H	1294	131750	Generalized dominant dystrophic epidermolysis bullosa	131750	C0432322	OMIM	1	2616	2214	120120
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL7A1 CL E G H	1294	607523	Nail disorder, nonsyndromic congenital, 8	607523	C1843761	OMIM	1	2616	2214	120120
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL7A1 CL E G H	1294	131850	Pretibial epidermolysis bullosa	131850	C0432321	OMIM	1	2616	2214	120120
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL7A1 CL E G H	1294	131705	Transient bullous dermolysis of the newborn	131705	C1851573	OMIM	1	2616	2214	120120
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL8A2 CL E G H	1296	136800	Corneal dystrophy, Fuchs endothelial 1	136800	C1850959	OMIM	1	51	2216	120252
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL8A2 CL E G H	1296	609140	Corneal dystrophy, posterior polymorphous, 2	609140	C1852795	OMIM	1	51	2216	120252
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL9A1 CL E G H	1297	614135	Multiple epiphyseal dysplasia 6	614135	C2675767	OMIM	1	892	2217	120210
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL9A2 CL E G H	1298	600204	Multiple epiphyseal dysplasia 2	600204	C1838429	OMIM	1	604	2218	120260
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL9A3 CL E G H	1299	600969	Multiple epiphyseal dysplasia 3	600969	C1832998	OMIM	1	907	2219	120270
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COMP CL E G H	1311	132400	Multiple epiphyseal dysplasia 1	132400	C1838280	OMIM	1	426	2227	600310
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COMP CL E G H	1311	177170	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	177170	C0410538	OMIM	1	426	2227	600310
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CORIN CL E G H	10699	614595	Preeclampsia/eclampsia 5	614595	C3281288	OMIM	1	49	19012	605236
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CPA6 CL E G H	57094	614417	Epilepsy, familial temporal lobe, 5	614417	C3280730	OMIM	1	219	17245	609562
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	167	2309	605032
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CPOX CL E G H	1371	121300	Hereditary coproporphyria	121300	C0162531	OMIM	1	207	2321	612732
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CPT1C CL E G H	126129	616282	Spastic paraplegia 73, autosomal dominant	616282	C4225387	OMIM	1	133	18540	608846
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CPT2 CL E G H	1376	255110	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced	255110	C1833508	OMIM	1	720	2330	600650
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CR2 CL E G H	1380	240500	Common variable immunodeficiency 2	240500	C3150354	OMIM	1	516	2336	120650
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRB1 CL E G H	23418	172870	Pigmented paravenous chorioretinal atrophy	172870	C1868310	OMIM	1	1274	2343	604210
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1255	2348	600140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRELD1 CL E G H	78987	606217	Atrioventricular septal defect 2	606217	C1853508	OMIM	1	158	14630	607170
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRX CL E G H	1406	120970	Cone-rod dystrophy 2	120970	CN074280	OMIM	1	442	2383	602225
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYAA CL E G H	1409	604219	Cataract, autosomal dominant	604219	C1858679	OMIM	1	152	2388	123580
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYAB CL E G H	1410	608810	Alpha-B crystallinopathy	608810	C1837317	OMIM	1	230	2389	123590
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYAB CL E G H	1410	613763	Cataract 16, multiple types	613763	C3151065	OMIM	1	230	2389	123590
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYAB CL E G H	1410	615184	Dilated cardiomyopathy 1II	615184	C3554649	OMIM	1	230	2389	123590
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYBA1 CL E G H	1411	600881	Cataract, congenital zonular, with sutural opacities	600881	C1833229	OMIM	1	67	2394	123610
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYBA2 CL E G H	1412	115900	Cataract, floriform	115900	C1861830	OMIM	1	34	2395	600836
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYBA4 CL E G H	1413	610425	Cataract 23, multiple types	610425	C3808012	OMIM	1	153	2396	123631
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYBB1 CL E G H	1414	611544	Cataract, congenital nuclear, autosomal recessive 3	611544	C1969062	OMIM	1	92	2397	600929
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYBB2 CL E G H	1415	601547	Cataract 3, multiple types	601547	C1832175	OMIM	1	108	2398	123620
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYBB3 CL E G H	1417	609741	Cataract, congenital nuclear, autosomal recessive 2	609741	C1857853	OMIM	1	100	2400	123630
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYGB CL E G H	1419	615188	Cataract 39, multiple types	615188	C3808800	OMIM	1	58	2409	123670
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYGC CL E G H	1420	604307	Cataract, coppock-like	604307	C1852438	OMIM	1	84	2410	123680
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYGD CL E G H	1421	115700	Aculeiform cataract	115700	C1861832	OMIM	1	98	2411	123690
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYGS CL E G H	1427	116100	Membranous cataract	116100	C0524524	OMIM	1	73	2417	123730
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CRYM CL E G H	1428	616357	Deafness, autosomal dominant 40	616357	C4084708	OMIM	1	101	2418	123740
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CSF1R CL E G H	1436	221820	Hereditary diffuse leukoencephalopathy with spheroids	221820	C3711381	OMIM	1	518	2433	164770
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CSNK1D CL E G H	1453	615224	Advanced sleep phase syndrome, familial, 2	615224	C3808874	OMIM	1	29	2452	600864
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CSNK2A1 CL E G H	1457	617062	Okur-chung neurodevelopmental syndrome	617062	C4310739	OMIM	1	196	2457	115440
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CSRP3 CL E G H	8048	607482	Dilated cardiomyopathy 1M	607482	C1843808	OMIM	1	364	2472	600824
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CSRP3 CL E G H	8048	612124	Familial hypertrophic cardiomyopathy 12	612124	C2677491	OMIM	1	364	2472	600824
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CST3 CL E G H	1471	105150	Hereditary cerebral amyloid angiopathy, Icelandic type	105150	C1527338	OMIM	1	42	2475	604312
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	217	2494	602618
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CTCF CL E G H	10664	615502	Mental retardation, autosomal dominant 21	615502	C3809686	OMIM	1	235	13723	604167
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CTLA4 CL E G H	1493	616100	Autoimmune lymphoproliferatiVe syndrome, type V	616100	C4015214	OMIM	1	190	2505	123890
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CTNNA1 CL E G H	1495	608970	Macular dystrophy, patterned, 2	608970	C1837029	OMIM	1	2087	2509	116805
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CTNNA3 CL E G H	29119	615616	Arrhythmogenic right ventricular dysplasia, familial, 13	615616	C3810138	OMIM	1	739	2511	607667
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CTNNB1 CL E G H	1499	114500	Carcinoma of colon	114500	C0699790	OMIM	1	468	2514	116806
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CTNNB1 CL E G H	1499	114550	Hepatocellular carcinoma	114550	C2239176	OMIM	1	468	2514	116806
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CTNNB1 CL E G H	1499	155255	Medulloblastoma	155255	C0025149	OMIM	1	468	2514	116806
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CTNNB1 CL E G H	1499	615075	Mental retardation, autosomal dominant 19	615075	C3554449	OMIM	1	468	2514	116806
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CTNNB1 CL E G H	1499	167000	Neoplasm of ovary	167000	C0919267	OMIM	1	468	2514	116806
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CTNNB1 CL E G H	1499	132600	Pilomatrixoma	132600	C0206711	OMIM	1	468	2514	116806
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CTSB CL E G H	1508	148370	Keratolytic winter erythema	148370	C0406756	OMIM	1	219	2527	116810
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CUL3 CL E G H	8452	614496	Pseudohypoaldosteronism type 2E	614496	C3469606	OMIM	1	268	2553	603136
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CXCR4 CL E G H	7852	193670	Warts, hypogammaglobulinemia, infections, and myelokathexis	193670	C0472817	OMIM	1	119	2561	162643
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CYCS CL E G H	54205	612004	Thrombocytopenia 4	612004	C2677608	OMIM	1	61	19986	123970
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CYLD CL E G H	1540	132700	Cylindromatosis, familial	132700	C1851526	OMIM	1	252	2584	605018
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CYLD CL E G H	1540	601606	Familial multiple trichoepitheliomata	601606	C1275122	OMIM	1	252	2584	605018
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CYLD CL E G H	1540	605041	Spiegler-Brooke syndrome	605041	C1857941	OMIM	1	252	2584	605018
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CYP11B1 CL E G H	1584	103900	Hyperaldosteronism, familial, type I	103900	C1260386	OMIM	1	582	2591	610613
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CYP19A1 CL E G H	1588	139300	Familial gynecomastia, due to increased aromatase activity	139300	C1970109	OMIM	1	341	2594	107910
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CYP24A1 CL E G H	1591	143880	Idiopathic hypercalcemia of infancy	143880	C0268080	OMIM	1	234	2602	126065
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CYP2A6 CL E G H	1548	122700	Warfarin response	122700	CN078029	OMIM	1	31	2610	122720
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CYP2C9 CL E G H	1559	122700	Warfarin response	122700	CN078029	OMIM	1	40	2623	601130
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DAB1 CL E G H	1600	615945	Spinocerebellar ataxia 37	615945	C3889636	OMIM	1	82	2661	603448
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DACT1 CL E G H	51339	617466	Townes-Brocks syndrome 2	617466	C4479534	OMIM	1	60	17748	607861
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DCAF8 CL E G H	50717	610100	Giant axonal neuropathy 2, autosomal dominant	610100	C1864695	OMIM	1	34	24891	615820
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DCC CL E G H	1630	114500	Carcinoma of colon	114500	C0699790	OMIM	1	175	2701	120470
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DCC CL E G H	1630	133239	Malignant tumor of esophagus	133239	C0546837	OMIM	1	175	2701	120470
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DCC CL E G H	1630	157600	Mirror movements 1	157600	C1834870	OMIM	1	175	2701	120470
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DCHS1 CL E G H	8642	607829	Mitral valve prolapse 2	607829	C1843003	OMIM	1	636	13681	603057
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DCN CL E G H	1634	610048	Congenital Stromal Corneal Dystrophy	610048	C1864738	OMIM	1	63	2705	125255
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DCTN1 CL E G H	1639	607641	Distal hereditary motor neuronopathy type 7B	607641	C1843315	OMIM	1	858	2711	601143
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DCTN1 CL E G H	1639	168605	Perry syndrome	168605	C1868594	OMIM	1	858	2711	601143
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DDX58 CL E G H	23586	616298	Singleton-Merten syndrome 2	616298	C4225380	OMIM	1		19102	609631
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DEAF1 CL E G H	10522	615828	Mental retardation, autosomal dominant 24	615828	C4014414	OMIM	1	452	14677	602635
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DEPDC5 CL E G H	9681	604364	Epilepsy, familial focal, with variable foci 1	604364	C1858477	OMIM	1	1614	18423	614191
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DES CL E G H	1674	604765	Dilated cardiomyopathy 1I	604765	C1858154	OMIM	1	818	2770	125660
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DES CL E G H	1674	601419	Myofibrillar myopathy 1	601419	C1832370	OMIM	1	818	2770	125660
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DES CL E G H	1674	181400	Scapuloperoneal syndrome, neurogenic, Kaeser type	181400	C1867005	OMIM	1	818	2770	125660
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DHDDS CL E G H	79947	617836	DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES	617836	CN769090	OMIM	1	318	20603	608172
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DHTKD1 CL E G H	55526	615025	Charcot-Marie-Tooth disease, axonal, type 2Q	615025	C3554366	OMIM	1	428	23537	614984
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DIABLO CL E G H	56616	614152	Deafness, autosomal dominant 64	614152	C3279948	OMIM	1	100	21528	605219
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DIAPH1 CL E G H	1729	124900	Deafness, autosomal dominant 1	124900	C1852282	OMIM	1	939	2876	602121
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DIAPH3 CL E G H	81624	609129	Auditory neuropathy, autosomal dominant, 1	609129	C1836743	OMIM	1	327	15480	614567
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DICER1 CL E G H	23405	601200	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	601200	CN072455	OMIM	1	4950	17098	606241
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DICER1 CL E G H	23405	138800	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors	138800	C0018022	OMIM	1	4950	17098	606241
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DIP2B CL E G H	57609	136630	Mental retardation, fra12a type	136630	C1969893	OMIM	1	47	29284	611379
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DISC2 CL E G H	27184	181500	Schizophrenia	181500	C0036341	OMIM	1	43	2889	606271
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DLC1 CL E G H	10395	114500	Carcinoma of colon	114500	C0699790	OMIM	1	213	2897	604258
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DLL4 CL E G H	54567	616589	Adams-Oliver syndrome 6	616589	C4225271	OMIM	1	137	2910	605185
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DLX3 CL E G H	1747	104510	Amelogenesis imperfecta, type IV	104510	C1863012	OMIM	1	118	2916	600525
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DLX3 CL E G H	1747	190320	Tricho-dento-osseous syndrome	190320	C0265333	OMIM	1	118	2916	600525
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DLX4 CL E G H	1748	616788	Orofacial cleft 15	616788	C4225209	OMIM	1	23	2917	601911
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DMPK CL E G H	1760	160900	Steinert myotonic dystrophy syndrome	160900	C3250443	OMIM	1	235	2933	605377
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DMXL2 CL E G H	23312	617605	DEAFNESS, AUTOSOMAL DOMINANT 71	617605	C4539881	OMIM	1	439	2938	612186
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DNA2 CL E G H	1763	615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	615156	C3554599	OMIM	1	331	2939	601810
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DNAJB11 CL E G H	51726	618061	POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE	618061	CN252647	OMIM	1	111	14889	611341
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DNAJB6 CL E G H	10049	603511	Limb-girdle muscular dystrophy, type 1E	603511	C3148763	OMIM	1	411	14888	611332
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DNAJC5 CL E G H	80331	162350	Ceroid lipofuscinosis neuronal 4B autosomal dominant	162350	C1834207	OMIM	1	393	16235	611203
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DNM1 CL E G H	1759	616346	Epileptic encephalopathy, early infantile, 31	616346	C4225357	OMIM	1	622	2972	602377
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DNM1L CL E G H	10059	614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	614388	C3280660	OMIM	1	445	2973	603850
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DNM1L CL E G H	10059	610708	Optic atrophy 5	610708	C1853139	OMIM	1	445	2973	603850
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DNM2 CL E G H	1785	606482	Charcot-Marie-Tooth disease, dominant intermediate B	606482	C1847902	OMIM	1	885	2974	602378
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	1	885	2974	602378
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DNMT1 CL E G H	1786	604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	604121	C1858804	OMIM	1	995	2976	126375
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DNMT1 CL E G H	1786	614116	Hereditary sensory neuropathy type IE	614116	C3279885	OMIM	1	995	2976	126375
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DNMT3A CL E G H	1788	601626	Acute myeloid leukemia	601626	C0023467	OMIM	1	359	2978	602769
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DNMT3A CL E G H	1788	615879	Tatton-Brown-rahman syndrome	615879	C4014545	OMIM	1	359	2978	602769
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DPAGT1 CL E G H	1798	614750	Congenital myasthenic syndrome 13	614750	C3553645	OMIM	1	258	2995	191350
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DPP6 CL E G H	1804	616311	Mental retardation, autosomal dominant 33	616311	C4225375	OMIM	1	225	3010	126141
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DSC2 CL E G H	1824	610476	Arrhythmogenic right ventricular cardiomyopathy, type 11	610476	C1864850	OMIM	1	1242	3036	125645
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DSG1 CL E G H	1828	148700	Keratosis palmoplantaris striata 1	148700	C2931122	OMIM	1	408	3048	125670
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DSG2 CL E G H	1829	610193	Arrhythmogenic right ventricular cardiomyopathy, type 10	610193	C1857777	OMIM	1	1379	3049	125671
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DSP CL E G H	1832	607450	Arrhythmogenic right ventricular cardiomyopathy, type 8	607450	C1843896	OMIM	1	3384	3052	125647
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DSP CL E G H	1832	615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	615821	C4014393	OMIM	1	3384	3052	125647
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DSP CL E G H	1832	605676	Dilated cardiomyopathy with woolly hair and keratoderma	605676	C1854063	OMIM	1	3384	3052	125647
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DSP CL E G H	1832	612908	Keratosis palmoplantaris striata II	612908	C1852127	OMIM	1	3384	3052	125647
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DSPP CL E G H	1834	605594	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1	605594	C1854146	OMIM	1	279	3054	125485
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DSPP CL E G H	1834	125420	Denticles	125420	C1527284	OMIM	1	279	3054	125485
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DSPP CL E G H	1834	125490	Dentinogenesis imperfecta - Shield's type II	125490	C0205730	OMIM	1	279	3054	125485
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DSPP CL E G H	1834	125500	Dentinogenesis imperfecta - Shield's type III	125500	C0399378	OMIM	1	279	3054	125485
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DSTYK CL E G H	25778	610805	Congenital anomalies of kidney and urinary tract 1, susceptibility to	610805	C1835826	OMIM	1	102	29043	612666
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DTNA CL E G H	1837	604169	Left ventricular noncompaction 1	604169	C1858725	OMIM	1	475	3057	601239
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DUSP6 CL E G H	1848	615269	Hypogonadotropic hypogonadism 19 with or without anosmia	615269	C3808981	OMIM	1	51	3072	602748
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DUSP6 CL E G H	1848	146110	Hypogonadotropic hypogonadism 7 with or without anosmia	146110	C0342384	OMIM	1	51	3072	602748
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DVL1 CL E G H	1855	180700	Robinow syndrome	180700	C0265205	OMIM	1	492	3084	601365
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DVL1 CL E G H	1855	616331	Robinow syndrome, autosomal dominant 2	616331	C4225363	OMIM	1	492	3084	601365
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DVL3 CL E G H	1857	180700	Robinow syndrome	180700	C0265205	OMIM	1	189	3087	601368
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DVL3 CL E G H	1857	616894	Robinow syndrome, autosomal dominant 3	616894	C4225164	OMIM	1	189	3087	601368
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DYNC1H1 CL E G H	1778	614228	Charcot-Marie-Tooth disease, axonal, type 2O	614228	C3280220	OMIM	1	2974	2961	600112
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DYNC1H1 CL E G H	1778	614563	Mental retardation, autosomal dominant 13	614563	C3281202	OMIM	1	2974	2961	600112
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DYNC1H1 CL E G H	1778	158600	Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant	158600	C1834690	OMIM	1	2974	2961	600112
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DYRK1A CL E G H	1859	614104	Mental retardation, autosomal dominant 7	614104	C3279839	OMIM	1	768	3091	600855
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	DYRK1B CL E G H	9149	615812	Abdominal obesity-metabolic syndrome 3	615812	C4014361	OMIM	1	49	3092	604556
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EBF3 CL E G H	253738	617330	Hypotonia, ataxia, and delayed development syndrome	617330	C4310618	OMIM	1	229	19087	607407
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ECE1 CL E G H	1889	613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	613870	C3151237	OMIM	1	49	3146	600423
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EDAR CL E G H	10913	129490	Autosomal dominant hypohidrotic ectodermal dysplasia	129490	C1720965	OMIM	1	299	2895	604095
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EDARADD CL E G H	128178	129490	Autosomal dominant hypohidrotic ectodermal dysplasia	129490	C1720965	OMIM	1	202	14341	606603
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EDARADD CL E G H	128178	614940	Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant	614940	C3541517	OMIM	1	202	14341	606603
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EDN1 CL E G H	1906	612798	Question mark ears, isolated	612798	C2748545	OMIM	1	52	3176	131240
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EDN3 CL E G H	1908	209880	Congenital central hypoventilation	209880	C1275808	OMIM	1	155	3178	131242
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EDN3 CL E G H	1908	613265	Waardenburg syndrome type 4B	613265	C2750457	OMIM	1	155	3178	131242
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EDNRA CL E G H	1909	616367	Mandibulofacial dysostosis with alopecia	616367	C4225349	OMIM	1	79	3179	131243
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EDNRB CL E G H	1910	277580	Waardenburg syndrome type 4A	277580	C1848519	OMIM	1	274	3180	131244
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EEF1A2 CL E G H	1917	616409	Epileptic encephalopathy, early infantile, 33	616409	C4225337	OMIM	1	493	3192	602959
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EEF1A2 CL E G H	1917	616393	Mental retardation, autosomal dominant 38	616393	C4225343	OMIM	1	493	3192	602959
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EEF2 CL E G H	1938	609306	Spinocerebellar ataxia 26	609306	C1836395	OMIM	1	204	3214	130610
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EFEMP1 CL E G H	2202	126600	Doyne honeycomb retinal dystrophy	126600	C1832174	OMIM	1	260	3218	601548
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EFTUD2 CL E G H	9343	610536	Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate	610536	C1864652	OMIM	1	363	30858	603892
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EGLN1 CL E G H	54583	609820	Erythrocytosis, familial, 3	609820	C1853286	OMIM	1	745	1232	606425
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EGR2 CL E G H	1959	607678	Charcot-Marie-Tooth disease, demyelinating, type 1d	607678	C1843247	OMIM	1	318	3239	129010
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EGR2 CL E G H	1959	605253	Congenital hypomyelinating neuropathy	605253	C0393818	OMIM	1	318	3239	129010
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EGR2 CL E G H	1959	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	318	3239	129010
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EHHADH CL E G H	1962	615605	Fanconi renotubular syndrome 3	615605	C3810100	OMIM	1	179	3247	607037
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EHMT1 CL E G H	79813	610253	Chromosome 9q deletion syndrome	610253	C0795833	OMIM	1	1570	24650	607001
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ELANE CL E G H	1991	162800	Cyclical neutropenia	162800	C0221023	OMIM	1	432	3309	130130
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	432	3309	130130
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ELN CL E G H	2006	123700	Cutis laxa, autosomal dominant 1	123700	C3276539	OMIM	1	763	3327	130160
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ELN CL E G H	2006	185500	Supravalvar aortic stenosis	185500	C0003499	OMIM	1	763	3327	130160
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	1	763	3327	130160
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ELOVL4 CL E G H	6785	133190	Erythrokeratodermia with ataxia	133190	C1851481	OMIM	1	242	14415	605512
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ELOVL4 CL E G H	6785	600110	Stargardt Disease 3	600110	C1838644	OMIM	1	242	14415	605512
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ELOVL5 CL E G H	60481	615957	Spinocerebellar ataxia 38	615957	C4014812	OMIM	1	63	21308	611805
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ELP4 CL E G H	26610	617141	Aniridia 2	617141	C0344543	OMIM	1	233	1171	606985
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ENAM CL E G H	10117	104500	Amelogenesis imperfecta - hypoplastic autosomal dominant - local	104500	C0399368	OMIM	1	152	3344	606585
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ENG CL E G H	2022	187300	Osler hemorrhagic telangiectasia syndrome	187300	C0039445	OMIM	1	1240	3349	131195
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ENPP1 CL E G H	5167	615522	Cole disease	615522	C3809781	OMIM	1	438	3356	173335
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EP300 CL E G H	2033	114500	Carcinoma of colon	114500	C0699790	OMIM	1	835	3373	602700
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	835	3373	602700
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EP300 CL E G H	2033	613684	Rubinstein-Taybi syndrome 2	613684	C3150941	OMIM	1	835	3373	602700
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EPAS1 CL E G H	2034	611783	Erythrocytosis, familial, 4	611783	C2673187	OMIM	1	1039	3374	603349
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EPB41 CL E G H	2035	611804	Elliptocytosis 1	611804	C2678497	OMIM	1	72	3377	130500
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EPB41L1 CL E G H	2036	614257	Mental retardation, autosomal dominant 11	614257	C3280285	OMIM	1	75	3378	602879
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EPHA2 CL E G H	1969	116600	Cataract 6, multiple types	116600	C1861825	OMIM	1	243	3386	176946
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EPHB4 CL E G H	2050	617300	Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to	617300	C4310629	OMIM	1	465	3395	600011
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ERBB2 CL E G H	2064	137800	Glioma susceptibility 1	137800	C2750850	OMIM	1	418	3430	164870
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ERBB2 CL E G H	2064	211980	Lung cancer	211980	C0684249	OMIM	1	418	3430	164870
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ERBB4 CL E G H	2066	615515	Amyotrophic lateral sclerosis 19	615515	C3715155	OMIM	1	321	3432	600543
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ERCC6 CL E G H	2074	616946	Premature ovarian failure 11	616946	C4310783	OMIM	1	1170	3438	609413
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ERF CL E G H	2077	617180	Chitayat syndrome	617180	C4310679	OMIM	1	131	3444	611888
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ERF CL E G H	2077	600775	Lambdoidal craniosynostosis	600775	C1833340	OMIM	1	131	3444	611888
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ERMARD CL E G H	55780	615544	Periventricular nodular heterotopia 6	615544	C3809872	OMIM	1	238	21056	615532
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ESR1 CL E G H	2099	114480	Familial cancer of breast	114480	C0346153	OMIM	1	191	3467	133430
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ETV6 CL E G H	2120	601626	Acute myeloid leukemia	601626	C0023467	OMIM	1	185	3495	600618
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ETV6 CL E G H	2120	616216	Thrombocytopenia 5	616216	C4015537	OMIM	1	185	3495	600618
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EVC CL E G H	2121	193530	Curry-Hall syndrome	193530	C0457013	OMIM	1	1306	3497	604831
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EVC2 CL E G H	132884	193530	Curry-Hall syndrome	193530	C0457013	OMIM	1	1283	19747	607261
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EXT1 CL E G H	2131	133700	Multiple congenital exostosis	133700	C0015306	OMIM	1	701	3512	608177
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EXT2 CL E G H	2132	133701	Multiple exostoses type 2	133701	C1851413	OMIM	1	532	3513	608210
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EYA1 CL E G H	2138	602588	Branchiootic syndrome	602588	C1865143	OMIM	1	434	3519	601653
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EYA1 CL E G H	2138	113650	Melnick-Fraser syndrome	113650	C0265234	OMIM	1	434	3519	601653
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EYA1 CL E G H	2138	166780	Otofaciocervical syndrome 1	166780	C3714941	OMIM	1	434	3519	601653
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EYA4 CL E G H	2070	601316	Deafness, autosomal dominant 10	601316	C1832476	OMIM	1	682	3522	603550
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EYA4 CL E G H	2070	605362	Dilated cardiomyopathy 1J	605362	C1854368	OMIM	1	682	3522	603550
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	EZH2 CL E G H	2146	277590	Weaver syndrome	277590	C0265210	OMIM	1	416	3527	601573
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	F11 CL E G H	2160	612416	Hereditary factor XI deficiency disease	612416	C0015523	OMIM	1	599	3529	264900
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	F12 CL E G H	2161	610618	Hereditary angioneurotic edema with normal C1 esterase inhibitor activity	610618	C1857728	OMIM	1	146	3530	610619
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	F2 CL E G H	2147	188050	Venous thrombosis	188050	C0042487	OMIM	1	138	3535	176930
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	F5 CL E G H	2153	188055	Thrombophilia due to activated protein C resistance	188055	C1861171	OMIM	1	513	3542	612309
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FAM111A CL E G H	63901	602361	Gracile bone dysplasia	602361	C1865639	OMIM	1	92	24725	615292
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FAM111A CL E G H	63901	127000	Kenny-Caffey syndrome type 2	127000	C4316787	OMIM	1	92	24725	615292
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FAM111B CL E G H	374393	615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis	615704	C3810325	OMIM	1	31	24200	615584
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FAM83H CL E G H	286077	130900	Amelogenesis imperfecta, hypocalcification type	130900	C0399376	OMIM	1	143	24797	611927
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FAS CL E G H	355	601859	Autoimmune lymphoproliferative syndrome	601859	C1328840	OMIM	1	313	11920	134637
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FASLG CL E G H	356	601859	Autoimmune lymphoproliferative syndrome	601859	C1328840	OMIM	1	158	11936	134638
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FAT2 CL E G H	2196	617769	SPINOCEREBELLAR ATAXIA 45	617769	C4540400	OMIM	1	188	3596	604269
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FBLN1 CL E G H	2192	608180	Synpolydactyly 2	608180	C1842422	OMIM	1	197	3600	135820
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FBLN5 CL E G H	10516	608895	Age-related macular degeneration 3	608895	C1837187	OMIM	1	315	3602	604580
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FBLN5 CL E G H	10516	614434	Cutis laxa, autosomal dominant 2	614434	C3280794	OMIM	1	315	3602	604580
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FBN1 CL E G H	2200	102370	Acromicric dysplasia	102370	C0265287	OMIM	1	5970	3603	134797
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FBN1 CL E G H	2200	129600	Ectopia lentis, isolated, autosomal dominant	129600	C1851286	OMIM	1	5970	3603	134797
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FBN1 CL E G H	2200	614185	Geleophysic dysplasia 2	614185	C3280054	OMIM	1	5970	3603	134797
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FBN1 CL E G H	2200	616914	Marfan lipodystrophy syndrome	616914	C4310796	OMIM	1	5970	3603	134797
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FBN1 CL E G H	2200	154700	Marfan syndrome	154700	C0024796	OMIM	1	5970	3603	134797
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FBN1 CL E G H	2200	604308	MASS syndrome	604308	C1858556	OMIM	1	5970	3603	134797
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FBN1 CL E G H	2200	184900	Stiff skin syndrome	184900	C1861456	OMIM	1	5970	3603	134797
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FBN1 CL E G H	2200	608328	Weill-Marchesani syndrome 2	608328	C1869115	OMIM	1	5970	3603	134797
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FBN2 CL E G H	2201	121050	Congenital contractural arachnodactyly	121050	C0220668	OMIM	1	2309	3604	612570
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FBN2 CL E G H	2201	616118	Macular degeneration, early-onset	616118	C4015286	OMIM	1	2309	3604	612570
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FBXO38 CL E G H	81545	615575	Distal hereditary motor neuronopathy 2D	615575	C3711384	OMIM	1	461	28844	608533
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FCGR2C CL E G H	9103	188030	Autoimmune thrombocytopenia	188030	C0398650	OMIM	1	28	15626	612169
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FDX2 CL E G H	112812	251900	Mitochondrial myopathy	251900	C0162670	OMIM	1	73	30546	614585
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FECH CL E G H	2235	177000	Erythropoietic protoporphyria	177000	C0162568	OMIM	1	308	3647	612386
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FEZF1 CL E G H	389549	146110	Hypogonadotropic hypogonadism 7 with or without anosmia	146110	C0342384	OMIM	1	77	22788	613301
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGA CL E G H	2243	105200	Familial visceral amyloidosis, Ostertag type	105200	C0268389	OMIM	1	168	3661	134820
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGF10 CL E G H	2255	180920	Congenital absence of salivary gland	180920	C0158667	OMIM	1	74	3666	602115
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGF10 CL E G H	2255	149730	Levy-Hollister syndrome	149730	C0265269	OMIM	1	74	3666	602115
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGF12 CL E G H	2257	617166	Epileptic encephalopathy, early infantile, 47	617166	C4310685	OMIM	1	210	3668	601513
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGF14 CL E G H	2259	609307	Spinocerebellar ataxia 27	609307	C1836383	OMIM	1	208	3671	601515
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGF17 CL E G H	8822	615270	Hypogonadotropic hypogonadism 20 with or without anosmia	615270	C3808983	OMIM	1	100	3673	603725
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGF17 CL E G H	8822	146110	Hypogonadotropic hypogonadism 7 with or without anosmia	146110	C0342384	OMIM	1	100	3673	603725
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGF23 CL E G H	8074	193100	Autosomal dominant hypophosphatemic rickets	193100	C0342642	OMIM	1	185	3680	605380
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGF5 CL E G H	2250	190330	Trichomegaly	190330	C0854699	OMIM	1	34	3683	165190
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGF8 CL E G H	2253	612702	Kallmann syndrome 6	612702	C2675188	OMIM	1	77	3686	600483
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGF9 CL E G H	2254	612961	Multiple synostoses syndrome 3	612961	C2751826	OMIM	1	174	3687	600921
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGFR1 CL E G H	2260	615465	Hartsfield syndrome	615465	C1845146	OMIM	1	688	3688	136350
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGFR1 CL E G H	2260	123150	Jackson-Weiss syndrome	123150	C0795998	OMIM	1	688	3688	136350
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGFR1 CL E G H	2260	147950	Kallmann syndrome 2	147950	C1563720	OMIM	1	688	3688	136350
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGFR1 CL E G H	2260	166250	Osteoglophonic dysplasia	166250	C0432283	OMIM	1	688	3688	136350
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGFR1 CL E G H	2260	101600	Pfeiffer syndrome	101600	C1863356	OMIM	1	688	3688	136350
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGFR1 CL E G H	2260	190440	Trigonocephaly 1	190440	C0432122	OMIM	1	688	3688	136350
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	567	3689	176943
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGFR2 CL E G H	2263	614592	Bent bone dysplasia syndrome	614592	C3281247	OMIM	1	567	3689	176943
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGFR2 CL E G H	2263	123500	Crouzon syndrome	123500	C0010273	OMIM	1	567	3689	176943
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGFR2 CL E G H	2263	123790	Cutis Gyrata syndrome of Beare and Stevenson	123790	C1852406	OMIM	1	567	3689	176943
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGFR2 CL E G H	2263	123150	Jackson-Weiss syndrome	123150	C0795998	OMIM	1	567	3689	176943
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGFR2 CL E G H	2263	149730	Levy-Hollister syndrome	149730	C0265269	OMIM	1	567	3689	176943
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGFR2 CL E G H	2263	101600	Pfeiffer syndrome	101600	C1863356	OMIM	1	567	3689	176943
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGFR2 CL E G H	2263	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	567	3689	176943
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGFR3 CL E G H	2261	100800	Achondroplasia	100800	C0001080	OMIM	1	746	3690	134934
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGFR3 CL E G H	2261	109800	Bladder cancer, somatic	109800	C0005684	OMIM	1	746	3690	134934
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGFR3 CL E G H	2261	610474	Camptodactyly, tall stature, and hearing loss syndrome	610474	C1864852	OMIM	1	746	3690	134934
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGFR3 CL E G H	2261	114500	Carcinoma of colon	114500	C0699790	OMIM	1	746	3690	134934
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGFR3 CL E G H	2261	612247	Crouzon syndrome with acanthosis nigricans	612247	C2677099	OMIM	1	746	3690	134934
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGFR3 CL E G H	2261	162900	Epidermal nevus	162900	C0334082	OMIM	1	746	3690	134934
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGFR3 CL E G H	2261	146000	Hypochondroplasia	146000	C0410529	OMIM	1	746	3690	134934
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGFR3 CL E G H	2261	149730	Levy-Hollister syndrome	149730	C0265269	OMIM	1	746	3690	134934
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGFR3 CL E G H	2261	602849	Muenke syndrome	602849	C1864436	OMIM	1	746	3690	134934
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGFR3 CL E G H	2261	616482	Severe achondroplasia with developmental delay and acanthosis nigricans	616482	C2674173	OMIM	1	746	3690	134934
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGFR3 CL E G H	2261	187600	Thanatophoric dysplasia type 1	187600	C1868678	OMIM	1	746	3690	134934
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGFR3 CL E G H	2261	187601	Thanatophoric dysplasia, type 2	187601	C1300257	OMIM	1	746	3690	134934
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	288	3693	605830
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FH CL E G H	2271	150800	Multiple cutaneous leiomyomas	150800	C1708350	OMIM	1	1594	3700	136850
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FIG4 CL E G H	9896	612577	Amyotrophic lateral sclerosis type 11	612577	C2675491	OMIM	1	749	16873	609390
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FKBP10 CL E G H	60681	610968	Osteogenesis imperfecta, type XI	610968	C3151218	OMIM	1	292	18169	607063
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FLCN CL E G H	201163	114500	Carcinoma of colon	114500	C0699790	OMIM	1	1833	27310	607273
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FLCN CL E G H	201163	135150	Multiple fibrofolliculomas	135150	C0346010	OMIM	1	1833	27310	607273
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FLCN CL E G H	201163	173600	Pneumothorax, primary spontaneous	173600	C1868193	OMIM	1	1833	27310	607273
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FLG CL E G H	2312	146700	Ichthyosis vulgaris	146700	C0079584	OMIM	1	420	3748	135940
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FLI1 CL E G H	2313	617443	Bleeding disorder, platelet-type, 21	617443	C4479515	OMIM	1	178	3749	193067
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FLNB CL E G H	2317	108720	Atelosteogenesis type 1	108720	C0265283	OMIM	1	1155	3755	603381
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FLNB CL E G H	2317	108721	Atelosteogenesis type 3	108721	C3668942	OMIM	1	1155	3755	603381
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FLNB CL E G H	2317	112310	Boomerang dysplasia	112310	C0432201	OMIM	1	1155	3755	603381
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FLNB CL E G H	2317	150250	Larsen syndrome, dominant type	150250	C1835564	OMIM	1	1155	3755	603381
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FLNC CL E G H	2318	617047	Cardiomyopathy, familial hypertrophic, 26	617047	C4310749	OMIM	1	3455	3756	102565
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FLNC CL E G H	2318	609524	Myofibrillar myopathy, filamin C-related	609524	C1836050	OMIM	1	3455	3756	102565
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FLNC CL E G H	2318	614065	Myopathy, distal, 4	614065	C3279722	OMIM	1	3455	3756	102565
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FLRT3 CL E G H	23767	615271	Hypogonadotropic hypogonadism 21 with or without anosmia	615271	C3808986	OMIM	1	54	3762	604808
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FLRT3 CL E G H	23767	146110	Hypogonadotropic hypogonadism 7 with or without anosmia	146110	C0342384	OMIM	1	54	3762	604808
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FLT3 CL E G H	2322	601626	Acute myeloid leukemia	601626	C0023467	OMIM	1	208	3765	136351
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FLT4 CL E G H	2324	602089	Hemangioma, capillary infantile	602089	C1865871	OMIM	1	283	3767	136352
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FLT4 CL E G H	2324	153100	Hereditary lymphedema type I	153100	C1704423	OMIM	1	283	3767	136352
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FN1 CL E G H	2335	601894	Glomerulopathy with fibronectin deposits 2	601894	C1866075	OMIM	1	759	3778	135600
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FN1 CL E G H	2335	614101	Plasma fibronectin deficiency	614101	C2675436	OMIM	1	759	3778	135600
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FN1 CL E G H	2335	184255	Spondylometaphyseal dysplasia - Sutcliffe type	184255	C0432221	OMIM	1	759	3778	135600
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FOXC1 CL E G H	2296	601631	Anterior segment dysgenesis 3	601631	C1866560	OMIM	1	396	3800	601090
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FOXC1 CL E G H	2296	602482	Axenfeld-Rieger syndrome type 3	602482	C2678503	OMIM	1	396	3800	601090
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FOXC2 CL E G H	2303	153400	Distichiasis-lymphedema syndrome	153400	C0265345	OMIM	1	125	3801	602402
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FOXF1 CL E G H	2294	265380	Persistent fetal circulation	265380	C0031190	OMIM	1	152	3809	601089
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FOXG1 CL E G H	2290	613454	Rett syndrome, congenital variant	613454	C3150705	OMIM	1	614	3811	164874
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FOXL2 CL E G H	668	110100	Blepharophimosis, ptosis, and epicanthus inversus	110100	C0220663	OMIM	1	186	1092	605597
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FOXL2 CL E G H	668	608996	Premature ovarian failure 3	608996	C1837008	OMIM	1	186	1092	605597
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FOXP1 CL E G H	27086	613670	Mental retardation with language impairment and with or without autistic features	613670	C3150923	OMIM	1	449	3823	605515
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FOXP2 CL E G H	93986	602081	Speech-language disorder 1	602081	C0750927	OMIM	1	330	13875	605317
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FREM1 CL E G H	158326	614485	Trigonocephaly 2	614485	C3280974	OMIM	1	600	23399	608944
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FRG1 CL E G H	2483	158900	Facioscapulohumeral muscular dystrophy	158900	C0238288	OMIM	1	126	3954	601278
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FSCN2 CL E G H	25794	607921	Retinitis pigmentosa 30	607921	C1842816	OMIM	1	453	3960	607643
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FSHR CL E G H	2492	608115	Ovarian hyperstimulation syndrome	608115	C0085083	OMIM	1	176	3969	136435
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FTH1 CL E G H	2495	615517	Hemochromatosis type 5	615517	CN181217	OMIM	1	58	3976	134770
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FTL CL E G H	2512	600886	Hyperferritinemia cataract syndrome	600886	C1833213	OMIM	1	151	3999	134790
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FTL CL E G H	2512	615604	L-ferritin deficiency	615604	C3810090	OMIM	1	151	3999	134790
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FTL CL E G H	2512	606159	Neuroferritinopathy	606159	C1853578	OMIM	1	151	3999	134790
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FUS CL E G H	2521	608030	Amyotrophic lateral sclerosis type 6	608030	C1842675	OMIM	1	409	4010	137070
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FUS CL E G H	2521	614782	Tremor, hereditary essential, 4	614782	C3539195	OMIM	1	409	4010	137070
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FXYD2 CL E G H	486	154020	Renal magnesium wasting	154020	C1835171	OMIM	1	77	4026	601814
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FZD2 CL E G H	2535	164745	Omodysplasia 2	164745	C2750355	OMIM	1	80	4040	600667
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	FZD4 CL E G H	8322	133780	Exudative vitreoretinopathy 1	133780	C1851402	OMIM	1	360	4042	604579
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GABRA1 CL E G H	2554	615744	Epileptic encephalopathy, early infantile, 19	615744	C3810400	OMIM	1	519	4075	137160
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GABRB1 CL E G H	2560	617153	Epileptic encephalopathy, early infantile, 45	617153	C4310691	OMIM	1	173	4081	137190
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GABRB3 CL E G H	2562	617113	Epileptic encephalopathy, early infantile, 43	617113	C4310712	OMIM	1	732	4083	137192
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GABRG2 CL E G H	2566	611277	Familial febrile seizures 8	611277	C1969810	OMIM	1	528	4087	137164
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GAL CL E G H	51083	616461	Epilepsy, familial temporal lobe, 8	616461	C4225318	OMIM	1	69	4114	137035
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GANAB CL E G H	23193	600666	Polycystic kidney disease 3	600666	C1418603	OMIM	1	162	4138	104160
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GARS CL E G H	2617	601472	Charcot-Marie-Tooth disease type 2D	601472	C1832274	OMIM	1		4162	600287
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GARS CL E G H	2617	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1		4162	600287
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GATA2 CL E G H	2624	614172	Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency	614172	C3280030	OMIM	1	1118	4171	137295
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GATA2 CL E G H	2624	614038	Lymphedema, primary, with myelodysplasia	614038	C3279664	OMIM	1	1118	4171	137295
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GATA3 CL E G H	2625	146255	Barakat syndrome	146255	C1840333	OMIM	1	276	4172	131320
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GATA4 CL E G H	2626	607941	Atrial septal defect 2	607941	C1842778	OMIM	1	630	4173	600576
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GATA4 CL E G H	2626	614430	Atrioventricular septal defect 4	614430	C3280781	OMIM	1	630	4173	600576
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GATA4 CL E G H	2626	615542	Testicular anomalies with or without congenital heart disease	615542	C3809858	OMIM	1	630	4173	600576
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GATA4 CL E G H	2626	187500	Tetralogy of Fallot	187500	C0039685	OMIM	1	630	4173	600576
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GATA4 CL E G H	2626	614429	Ventricular septal defect 1	614429	C3280777	OMIM	1	630	4173	600576
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GATA5 CL E G H	140628	617912	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5	617912	CN873437	OMIM	1	270	15802	611496
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GATA6 CL E G H	2627	614475	Atrial septal defect 9	614475	C3280943	OMIM	1	378	4174	601656
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GATA6 CL E G H	2627	614474	Atrioventricular septal defect 5	614474	C3280939	OMIM	1	378	4174	601656
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GATA6 CL E G H	2627	600001	Pancreatic agenesis and congenital heart disease	600001	C1838780	OMIM	1	378	4174	601656
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GATA6 CL E G H	2627	187500	Tetralogy of Fallot	187500	C0039685	OMIM	1	378	4174	601656
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GATAD2B CL E G H	57459	615074	Mental retardation, autosomal dominant 18	615074	C3554448	OMIM	1	291	30778	614998
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GCH1 CL E G H	2643	128230	Dystonia 5, Dopa-responsive type	128230	C1851920	OMIM	1	364	4193	600225
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GCK CL E G H	2645	125853	Diabetes mellitus type 2	125853	C0011860	OMIM	1	762	4195	138079
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GCK CL E G H	2645	602485	Hyperinsulinemic hypoglycemia familial 3	602485	C1865290	OMIM	1	762	4195	138079
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GCK CL E G H	2645	125851	Maturity-onset diabetes of the young, type 2	125851	C1841962	OMIM	1	762	4195	138079
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GCM2 CL E G H	9247	617343	Hyperparathyroidism 4	617343	C4479229	OMIM	1	151	4198	603716
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GCM2 CL E G H	9247	146200	Hypoparathyroidism familial isolated	146200	C1832648	OMIM	1	151	4198	603716
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GCNT2 CL E G H	2651	116700	Cataract 13 with adult i phenotype	116700	C3805373	OMIM	1	217	4204	600429
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GCNT2 CL E G H	2651	110800	I blood group system	110800	C1862229	OMIM	1	217	4204	600429
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GDAP1 CL E G H	54332	607831	Charcot-Marie-Tooth disease type 2K	607831	C1842983	OMIM	1	477	15968	606598
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GDF1 CL E G H	2657	613854	Transposition of the great arteries, dextro-looped 3	613854	C3151221	OMIM	1	326	4214	602880
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GDF2 CL E G H	2658	615506	Telangiectasia, hereditary hemorrhagic, type 5	615506	C3809710	OMIM	1	292	4217	605120
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GDF3 CL E G H	9573	613702	Klippel-Feil syndrome 3, autosomal dominant	613702	C3150967	OMIM	1	80	4218	606522
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GDF3 CL E G H	9573	613703	Microphthalmia, isolated, with coloboma 6	613703	C3150968	OMIM	1	80	4218	606522
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GDF5 CL E G H	8200	615072	Brachydactyly, type a1, c	615072	C3554446	OMIM	1	175	4220	601146
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	GDF5 CL