Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001425	HP:0001425	Heterogeneous	0	ABCA3 CL E G H	21	610921	Surfactant metabolism dysfunction, pulmonary, 3	610921	C1970456	OMIM	1	289	229	33	601615
HP:0001425	HP:0001425	Heterogeneous	0	ABCB4 CL E G H	5244	602347	Progressive familial intrahepatic cholestasis 3	602347	C1865643	OMIM	1	244	303	45	171060
HP:0001425	HP:0001425	Heterogeneous	0	ABCC8 CL E G H	6833	256450	Persistent hyperinsulinemic hypoglycemia of infancy	256450	C2931832	OMIM	1	661	546	59	600509
HP:0001425	HP:0001425	Heterogeneous	0	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	217	228	129	102610
HP:0001425	HP:0001425	Heterogeneous	0	ACTA1 CL E G H	58	161800	Nemaline myopathy 3	161800	C3711389	OMIM	1	217	228	129	102610
HP:0001425	HP:0001425	Heterogeneous	0	ACVRL1 CL E G H	94	600376	Hereditary hemorrhagic telangiectasia type 2	600376	C1838163	OMIM	1	432	385	175	601284
HP:0001425	HP:0001425	Heterogeneous	0	ADAMTS13 CL E G H	11093	274150	Upshaw-Schulman syndrome	274150	C1268935	OMIM	1	198	211	1366	604134
HP:0001425	HP:0001425	Heterogeneous	0	ADGRV1 CL E G H	84059	604352	Febrile seizures, familial, 4	604352	C1858493	OMIM	1	249	1009	17416	602851
HP:0001425	HP:0001425	Heterogeneous	0	AGPAT2 CL E G H	10555	608594	Congenital generalized lipodystrophy type 1	608594	C1720862	OMIM	1	43	156	325	603100
HP:0001425	HP:0001425	Heterogeneous	0	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	96	303	21575	608894
HP:0001425	HP:0001425	Heterogeneous	0	AKT1 CL E G H	207	114480	Familial cancer of breast	114480	C0346153	OMIM	1	12	228	391	164730
HP:0001425	HP:0001425	Heterogeneous	0	ANK2 CL E G H	287	600919	Cardiac arrhythmia, ankyrin B-related	600919	C1970119	OMIM	1	75	1019	493	106410
HP:0001425	HP:0001425	Heterogeneous	0	APC CL E G H	324	114550	Hepatocellular carcinoma	114550	C2239176	OMIM	1	1951	6688	583	611731
HP:0001425	HP:0001425	Heterogeneous	0	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		90	20492	616003
HP:0001425	HP:0001425	Heterogeneous	0	APP CL E G H	351	104300	Alzheimer's disease	104300	C0002395	OMIM	1	107	193	620	104760
HP:0001425	HP:0001425	Heterogeneous	0	AQP2 CL E G H	359	125800	Nephrogenic diabetes insipidus, autosomal	125800	C1563706	OMIM	1	66	129	634	107777
HP:0001425	HP:0001425	Heterogeneous	0	ATL1 CL E G H	51062	182600	Spastic paraplegia 3	182600	C2931355	OMIM	1	85	179	11231	606439
HP:0001425	HP:0001425	Heterogeneous	0	ATP1A2 CL E G H	477	602481	Familial hemiplegic migraine type 2	602481	C1865322	OMIM	1	99	444	800	182340
HP:0001425	HP:0001425	Heterogeneous	0	AVPR2 CL E G H	554	304800	Nephrogenic diabetes insipidus, X-linked	304800	C1563705	OMIM	1	286	329	897	300538
HP:0001425	HP:0001425	Heterogeneous	0	AXIN1 CL E G H	8312	114550	Hepatocellular carcinoma	114550	C2239176	OMIM	1	18	79	903	603816
HP:0001425	HP:0001425	Heterogeneous	0	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	37	164	1020	603647
HP:0001425	HP:0001425	Heterogeneous	0	BRAF CL E G H	673	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	68	434	1097	164757
HP:0001425	HP:0001425	Heterogeneous	0	BRCA1 CL E G H	672	114480	Familial cancer of breast	114480	C0346153	OMIM	1	2824	8142	1100	113705
HP:0001425	HP:0001425	Heterogeneous	0	BRCA2 CL E G H	675	194070	Wilms tumor 1	194070	CN033288	OMIM	1	3025	11674	1101	600185
HP:0001425	HP:0001425	Heterogeneous	0	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1	50	224	15832	606158
HP:0001425	HP:0001425	Heterogeneous	0	BSND CL E G H	7809	602522	Bartter syndrome type 4	602522	C1865270	OMIM	1	24	100	16512	606412
HP:0001425	HP:0001425	Heterogeneous	0	CACNA1A CL E G H	773	141500	Familial hemiplegic migraine type 1	141500	C1832884	OMIM	1	251	1183	1388	601011
HP:0001425	HP:0001425	Heterogeneous	0	CACNA1F CL E G H	778	300071	Congenital stationary night blindness, type 2A	300071	C1848172	OMIM	1	185	281	1393	300110
HP:0001425	HP:0001425	Heterogeneous	0	CASP8 CL E G H	841	114550	Hepatocellular carcinoma	114550	C2239176	OMIM	1	12	94	1509	601763
HP:0001425	HP:0001425	Heterogeneous	0	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	50	252	1529	601253
HP:0001425	HP:0001425	Heterogeneous	0	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	96	480	29253	612013
HP:0001425	HP:0001425	Heterogeneous	0	CCM2 CL E G H	83605	603284	Cerebral cavernous malformations 2	603284	C1864041	OMIM	1	88	142	21708	607929
HP:0001425	HP:0001425	Heterogeneous	0	CENPJ CL E G H	55835	608393	Primary autosomal recessive microcephaly 6	608393	C1842109	OMIM	1	10	250	17272	609279
HP:0001425	HP:0001425	Heterogeneous	0	CFTR CL E G H	1080	277180	Congenital bilateral absence of the vas deferens	277180	C0403814	OMIM	1	1828	2085	1884	602421
HP:0001425	HP:0001425	Heterogeneous	0	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	77	311	1912	118490
HP:0001425	HP:0001425	Heterogeneous	0	CHRNA2 CL E G H	1135	610353	Epilepsy, nocturnal frontal lobe, type 4	610353	C1835905	OMIM	1	13	375	1956	118502
HP:0001425	HP:0001425	Heterogeneous	0	CLCN7 CL E G H	1186	166600	Osteopetrosis autosomal dominant type 2	166600	C3179239	OMIM	1	100	204	2025	602727
HP:0001425	HP:0001425	Heterogeneous	0	CLCNKA CL E G H	1187	613090	Bartter syndrome, type 4b	613090	C2751312	OMIM	1	6	104	2026	602024
HP:0001425	HP:0001425	Heterogeneous	0	CLCNKB CL E G H	1188	613090	Bartter syndrome, type 4b	613090	C2751312	OMIM	1	152	159	2027	602023
HP:0001425	HP:0001425	Heterogeneous	0	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	7	19	25716	615623
HP:0001425	HP:0001425	Heterogeneous	0	COL17A1 CL E G H	1308	226650	Adult junctional epidermolysis bullosa	226650	C0268374	OMIM	1	114	198	2194	113811
HP:0001425	HP:0001425	Heterogeneous	0	COL4A3 CL E G H	1285	203780	Alport syndrome, autosomal recessive	203780	C1567744	OMIM	1	272	500	2204	120070
HP:0001425	HP:0001425	Heterogeneous	0	COL4A4 CL E G H	1286	203780	Alport syndrome, autosomal recessive	203780	C1567744	OMIM	1	233	548	2206	120131
HP:0001425	HP:0001425	Heterogeneous	0	COL4A5 CL E G H	1287	301050	Alport syndrome, X-linked recessive	301050	C1567742	OMIM	1	1000	1281	2207	303630
HP:0001425	HP:0001425	Heterogeneous	0	COL9A2 CL E G H	1298	600204	Multiple epiphyseal dysplasia 2	600204	C1838429	OMIM	1	13	190	2218	120260
HP:0001425	HP:0001425	Heterogeneous	0	COL9A3 CL E G H	1299	600969	Multiple epiphyseal dysplasia 3	600969	C1832998	OMIM	1	17	226	2219	120270
HP:0001425	HP:0001425	Heterogeneous	0	COMP CL E G H	1311	132400	Multiple epiphyseal dysplasia 1	132400	C1838280	OMIM	1	188	151	2227	600310
HP:0001425	HP:0001425	Heterogeneous	0	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	13	182	2260	602125
HP:0001425	HP:0001425	Heterogeneous	0	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	13	182	2260	602125
HP:0001425	HP:0001425	Heterogeneous	0	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	1	14	28216	614478
HP:0001425	HP:0001425	Heterogeneous	0	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	5	145	2263	603646
HP:0001425	HP:0001425	Heterogeneous	0	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	1	126	26970	614698
HP:0001425	HP:0001425	Heterogeneous	0	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	3	31	2280	124089
HP:0001425	HP:0001425	Heterogeneous	0	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	1	12	2294	123870
HP:0001425	HP:0001425	Heterogeneous	0	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	364	674	2348	600140
HP:0001425	HP:0001425	Heterogeneous	0	CRELD1 CL E G H	78987	606217	Atrioventricular septal defect 2	606217	C1853508	OMIM	1	16	86	14630	607170
HP:0001425	HP:0001425	Heterogeneous	0	CTNNB1 CL E G H	1499	114550	Hepatocellular carcinoma	114550	C2239176	OMIM	1	54	163	2514	116806
HP:0001425	HP:0001425	Heterogeneous	0	CTSC CL E G H	1075	170650	Periodontitis, aggressive, 1	170650	C0031106	OMIM	1	96	109	2528	602365
HP:0001425	HP:0001425	Heterogeneous	0	CYP1B1 CL E G H	1545	231300	Glaucoma 3, primary congenital, A	231300	C1856439	OMIM	1	243	153	2597	601771
HP:0001425	HP:0001425	Heterogeneous	0	DHH CL E G H	50846	233420	46,XY sex reversal, type 7	233420	C1856273	OMIM	1	18	43	2865	605423
HP:0001425	HP:0001425	Heterogeneous	0	DISC2 CL E G H	27184	181500	Schizophrenia	181500	C0036341	OMIM	1		33	2889	606271
HP:0001425	HP:0001425	Heterogeneous	0	DNAI1 CL E G H	27019	244400	Kartagener syndrome	244400	C0022521	OMIM	1	38	235	2954	604366
HP:0001425	HP:0001425	Heterogeneous	0	DNM2 CL E G H	1785	606482	Charcot-Marie-Tooth disease, dominant intermediate B	606482	C1847902	OMIM	1	52	408	2974	602378
HP:0001425	HP:0001425	Heterogeneous	0	DSG2 CL E G H	1829	610193	Arrhythmogenic right ventricular cardiomyopathy, type 10	610193	C1857777	OMIM	1	132	604	3049	125671
HP:0001425	HP:0001425	Heterogeneous	0	DSP CL E G H	1832	607450	Arrhythmogenic right ventricular cardiomyopathy, type 8	607450	C1843896	OMIM	1	309	1429	3052	125647
HP:0001425	HP:0001425	Heterogeneous	0	DYSF CL E G H	8291	254130	Miyoshi muscular dystrophy 1	254130	C1850808	OMIM	1	537	1348	3097	603009
HP:0001425	HP:0001425	Heterogeneous	0	EDA CL E G H	1896	305100	Hypohidrotic X-linked ectodermal dysplasia	305100	C0162359	OMIM	1	330	329	3157	300451
HP:0001425	HP:0001425	Heterogeneous	0	EDAR CL E G H	10913	129490	Autosomal dominant hypohidrotic ectodermal dysplasia	129490	C1720965	OMIM	1	62	168	2895	604095
HP:0001425	HP:0001425	Heterogeneous	0	EDAR CL E G H	10913	224900	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	224900	C0406702	OMIM	1	62	168	2895	604095
HP:0001425	HP:0001425	Heterogeneous	0	EDARADD CL E G H	128178	129490	Autosomal dominant hypohidrotic ectodermal dysplasia	129490	C1720965	OMIM	1	10	128	14341	606603
HP:0001425	HP:0001425	Heterogeneous	0	EDARADD CL E G H	128178	224900	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	224900	C0406702	OMIM	1	10	128	14341	606603
HP:0001425	HP:0001425	Heterogeneous	0	EDN3 CL E G H	1908	613265	Waardenburg syndrome type 4B	613265	C2750457	OMIM	1	21	96	3178	131242
HP:0001425	HP:0001425	Heterogeneous	0	EDNRB CL E G H	1910	277580	Waardenburg syndrome type 4A	277580	C1848519	OMIM	1	70	152	3180	131244
HP:0001425	HP:0001425	Heterogeneous	0	EGR2 CL E G H	1959	607678	Charcot-Marie-Tooth disease, demyelinating, type 1d	607678	C1843247	OMIM	1	24	147	3239	129010
HP:0001425	HP:0001425	Heterogeneous	0	EGR2 CL E G H	1959	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	24	147	3239	129010
HP:0001425	HP:0001425	Heterogeneous	0	ELN CL E G H	2006	123700	Cutis laxa, autosomal dominant 1	123700	C3276539	OMIM	1	127	458	3327	130160
HP:0001425	HP:0001425	Heterogeneous	0	ENAM CL E G H	10117	204650	Amelogenesis imperfecta, type IC	204650	C2673923	OMIM	1	19	86	3344	606585
HP:0001425	HP:0001425	Heterogeneous	0	ENG CL E G H	2022	187300	Osler hemorrhagic telangiectasia syndrome	187300	C0039445	OMIM	1	497	513	3349	131195
HP:0001425	HP:0001425	Heterogeneous	0	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	107	444	3373	602700
HP:0001425	HP:0001425	Heterogeneous	0	EPM2A CL E G H	7957	254780	Lafora disease	254780	C0751783	OMIM	1	82	174	3413	607566
HP:0001425	HP:0001425	Heterogeneous	0	ERCC6 CL E G H	2074	600630	UV-sensitive syndrome	600630	C1833561	OMIM	1	140	418	3438	609413
HP:0001425	HP:0001425	Heterogeneous	0	ERCC8 CL E G H	1161	216400	Cockayne syndrome type A	216400	C0751039	OMIM	1	70	168	3439	609412
HP:0001425	HP:0001425	Heterogeneous	0	ESR1 CL E G H	2099	114480	Familial cancer of breast	114480	C0346153	OMIM	1	38	105	3467	133430
HP:0001425	HP:0001425	Heterogeneous	0	EYA1 CL E G H	2138	113650	Melnick-Fraser syndrome	113650	C0265234	OMIM	1	221	240	3519	601653
HP:0001425	HP:0001425	Heterogeneous	0	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	3	170	29160	612322
HP:0001425	HP:0001425	Heterogeneous	0	FBLN5 CL E G H	10516	219100	Autosomal recessive cutis laxa type IA	219100	CN033664	OMIM	1	23	122	3602	604580
HP:0001425	HP:0001425	Heterogeneous	0	FGD4 CL E G H	121512	609311	Charcot-Marie-Tooth disease, type 4H	609311	C1836336	OMIM	1	30	314	19125	611104
HP:0001425	HP:0001425	Heterogeneous	0	FGF14 CL E G H	2259	609307	Spinocerebellar ataxia 27	609307	C1836383	OMIM	1	10	142	3671	601515
HP:0001425	HP:0001425	Heterogeneous	0	FGFR1 CL E G H	2260	147950	Kallmann syndrome 2	147950	C1563720	OMIM	1	265	306	3688	136350
HP:0001425	HP:0001425	Heterogeneous	0	FKRP CL E G H	79147	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	141	349	17997	606596
HP:0001425	HP:0001425	Heterogeneous	0	FKTN CL E G H	2218	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	59	370	3622	607440
HP:0001425	HP:0001425	Heterogeneous	0	FOXC1 CL E G H	2296	602482	Axenfeld-Rieger syndrome type 3	602482	C2678503	OMIM	1	139	192	3800	601090
HP:0001425	HP:0001425	Heterogeneous	0	FRMD7 CL E G H	90167	310700	Infantile nystagmus, X-linked	310700	C1839580	OMIM	1	95	221	8079	300628
HP:0001425	HP:0001425	Heterogeneous	0	GAD1 CL E G H	2571	603513	Cerebral palsy, spastic quadriplegic, 1	603513	C2751938	OMIM	1	7	78	4092	605363
HP:0001425	HP:0001425	Heterogeneous	0	GCH1 CL E G H	2643	128230	Dystonia 5, Dopa-responsive type	128230	C1851920	OMIM	1	252	174	4193	600225
HP:0001425	HP:0001425	Heterogeneous	0	GCK CL E G H	2645	602485	Hyperinsulinemic hypoglycemia familial 3	602485	C1865290	OMIM	1	848	424	4195	138079
HP:0001425	HP:0001425	Heterogeneous	0	GDAP1 CL E G H	54332	607831	Charcot-Marie-Tooth disease type 2K	607831	C1842983	OMIM	1	103	275	15968	606598
HP:0001425	HP:0001425	Heterogeneous	0	GDAP1 CL E G H	54332	214400	Charcot-Marie-Tooth disease, type 4A	214400	C1859198	OMIM	1	103	275	15968	606598
HP:0001425	HP:0001425	Heterogeneous	0	GDF6 CL E G H	392255	118100	Klippel-Feil syndrome 1, autosomal dominant	118100	C1861689	OMIM	1	21	107	4221	601147
HP:0001425	HP:0001425	Heterogeneous	0	GLUD1 CL E G H	2746	606762	Hyperinsulinism-hyperammonemia syndrome	606762	C1847555	OMIM	1	38	115	4335	138130
HP:0001425	HP:0001425	Heterogeneous	0	GPC3 CL E G H	2719	194070	Wilms tumor 1	194070	CN033288	OMIM	1	98	418	4451	300037
HP:0001425	HP:0001425	Heterogeneous	0	GPC4 CL E G H	2239	194070	Wilms tumor 1	194070	CN033288	OMIM	1	5	192	4452	300168
HP:0001425	HP:0001425	Heterogeneous	0	H19 CL E G H	283120	194070	Wilms tumor 1	194070	CN033288	OMIM	1	38	45	4713	103280
HP:0001425	HP:0001425	Heterogeneous	0	HADH CL E G H	3033	609975	Hyperinsulinemic hypoglycemia, familial, 4	609975	C1864948	OMIM	1	26	67	4799	601609
HP:0001425	HP:0001425	Heterogeneous	0	HCRT CL E G H	3060	161400	Narcolepsy 1	161400	C1834372	OMIM	1	2	9	4847	602358
HP:0001425	HP:0001425	Heterogeneous	0	HPS1 CL E G H	3257	203300	Hermansky-Pudlak syndrome 1	203300	C2931875	OMIM	1	55	204	5163	604982
HP:0001425	HP:0001425	Heterogeneous	0	HSPB1 CL E G H	3315	606595	Charcot-Marie-Tooth disease type 2F	606595	C1847823	OMIM	1	48	169	5246	602195
HP:0001425	HP:0001425	Heterogeneous	0	HSPB8 CL E G H	26353	608673	Charcot-Marie-Tooth disease, type 2L	608673	C1837552	OMIM	1	10	93	30171	608014
HP:0001425	HP:0001425	Heterogeneous	0	IGF2 CL E G H	3481	194070	Wilms tumor 1	194070	CN033288	OMIM	1	11	56	5466	147470
HP:0001425	HP:0001425	Heterogeneous	0	IGF2R CL E G H	3482	114550	Hepatocellular carcinoma	114550	C2239176	OMIM	1	6	45	5467	147280
HP:0001425	HP:0001425	Heterogeneous	0	IHH CL E G H	3549	112500	Type A1 brachydactyly	112500	C1862151	OMIM	1	33	79	5956	600726
HP:0001425	HP:0001425	Heterogeneous	0	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	54	228	21474	613037
HP:0001425	HP:0001425	Heterogeneous	0	INSR CL E G H	3643	609968	Hyperinsulinemic hypoglycemia familial 5	609968	C1864952	OMIM	1	196	334	6091	147670
HP:0001425	HP:0001425	Heterogeneous	0	IQCB1 CL E G H	9657	609254	Senior-Loken syndrome 5	609254	C1836517	OMIM	1	43	109	28949	609237
HP:0001425	HP:0001425	Heterogeneous	0	ITGB4 CL E G H	3691	226650	Adult junctional epidermolysis bullosa	226650	C0268374	OMIM	1	99	222	6158	147557
HP:0001425	HP:0001425	Heterogeneous	0	JPH1 CL E G H	56704	607831	Charcot-Marie-Tooth disease type 2K	607831	C1842983	OMIM	1	1	34	14201	605266
HP:0001425	HP:0001425	Heterogeneous	0	JUP CL E G H	3728	611528	Arrhythmogenic right ventricular cardiomyopathy, type 12	611528	C1969081	OMIM	1	48	395	6207	173325
HP:0001425	HP:0001425	Heterogeneous	0	KCNE1 CL E G H	3753	612347	Jervell and Lange-Nielsen syndrome 2	612347	C2676723	OMIM	1	49	259	6240	176261
HP:0001425	HP:0001425	Heterogeneous	0	KCNE1 CL E G H	3753	613695	Long QT syndrome 5	613695	C1867904	OMIM	1	49	259	6240	176261
HP:0001425	HP:0001425	Heterogeneous	0	KCNE2 CL E G H	9992	613693	Long QT syndrome 6	613693	C3150953	OMIM	1	25	133	6242	603796
HP:0001425	HP:0001425	Heterogeneous	0	KCNH2 CL E G H	3757	613688	Long QT syndrome 2	613688	C3150943	OMIM	1	947	1395	6251	152427
HP:0001425	HP:0001425	Heterogeneous	0	KCNJ1 CL E G H	3758	241200	Bartter syndrome, type 2, antenatal	241200	C1855849	OMIM	1	70	149	6255	600359
HP:0001425	HP:0001425	Heterogeneous	0	KCNJ11 CL E G H	3767	601820	Islet cell hyperplasia	601820	C0027773	OMIM	1	187	210	6257	600937
HP:0001425	HP:0001425	Heterogeneous	0	KCNQ1 CL E G H	3784	607554	Atrial fibrillation, familial, 3	607554	C1837014	OMIM	1	643	1016	6294	607542
HP:0001425	HP:0001425	Heterogeneous	0	KCNQ1 CL E G H	3784	220400	Jervell and Lange-Nielsen syndrome 1	220400	CN034131	OMIM	1	643	1016	6294	607542
HP:0001425	HP:0001425	Heterogeneous	0	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	643	1016	6294	607542
HP:0001425	HP:0001425	Heterogeneous	0	KCNQ2 CL E G H	3785	121200	Benign familial neonatal seizures 1	121200	C1852587	OMIM	1	314	908	6296	602235
HP:0001425	HP:0001425	Heterogeneous	0	KIF1B CL E G H	23095	118210	Charcot-Marie-Tooth disease, type 2A1	118210	C1861678	OMIM	1	13	356	16636	605995
HP:0001425	HP:0001425	Heterogeneous	0	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	45	319	30497	611254
HP:0001425	HP:0001425	Heterogeneous	0	KRAS CL E G H	3845	114480	Familial cancer of breast	114480	C0346153	OMIM	1	45	265	6407	190070
HP:0001425	HP:0001425	Heterogeneous	0	KRIT1 CL E G H	889	116860	Cerebral cavernous malformation	116860	C2919945	OMIM	1	274	281	1573	604214
HP:0001425	HP:0001425	Heterogeneous	0	KRT16 CL E G H	3868	167200	Pachyonychia congenita 1	167200	C1706595	OMIM	1	31	59	6423	148067
HP:0001425	HP:0001425	Heterogeneous	0	KRT17 CL E G H	3872	167210	Pachyonychia congenita 2	167210	C1721007	OMIM	1	29	50	6427	148069
HP:0001425	HP:0001425	Heterogeneous	0	KRT81 CL E G H	3887	158000	Beaded hair	158000	C0546966	OMIM	1	5	14	6458	602153
HP:0001425	HP:0001425	Heterogeneous	0	KRT83 CL E G H	3889	158000	Beaded hair	158000	C0546966	OMIM	1	4	79	6460	602765
HP:0001425	HP:0001425	Heterogeneous	0	KRT86 CL E G H	3892	158000	Beaded hair	158000	C0546966	OMIM	1	12	29	6463	601928
HP:0001425	HP:0001425	Heterogeneous	0	LAMA3 CL E G H	3909	226650	Adult junctional epidermolysis bullosa	226650	C0268374	OMIM	1	55	404	6483	600805
HP:0001425	HP:0001425	Heterogeneous	0	LAMB3 CL E G H	3914	226650	Adult junctional epidermolysis bullosa	226650	C0268374	OMIM	1	121	324	6490	150310
HP:0001425	HP:0001425	Heterogeneous	0	LAMC2 CL E G H	3918	226650	Adult junctional epidermolysis bullosa	226650	C0268374	OMIM	1	41	260	6493	150292
HP:0001425	HP:0001425	Heterogeneous	0	LARGE1 CL E G H	9215	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	28	346	6511	603590
HP:0001425	HP:0001425	Heterogeneous	0	LITAF CL E G H	9516	601098	Charcot-Marie-Tooth disease, type 1C	601098	C0270913	OMIM	1	19	167	16841	603795
HP:0001425	HP:0001425	Heterogeneous	0	LMNA CL E G H	4000	605588	Charcot-Marie-Tooth disease type 2B1	605588	C1854154	OMIM	1	574	963	6636	150330
HP:0001425	HP:0001425	Heterogeneous	0	LMNA CL E G H	4000	275210	Lethal tight skin contracture syndrome	275210	C0406585	OMIM	1	574	963	6636	150330
HP:0001425	HP:0001425	Heterogeneous	0	LMNA CL E G H	4000	248370	Mandibuloacral dysostosis	248370	C0432291	OMIM	1	574	963	6636	150330
HP:0001425	HP:0001425	Heterogeneous	0	LRP5 CL E G H	4041	607634	Osteopetrosis autosomal dominant type 1	607634	C1843330	OMIM	1	221	274	6697	603506
HP:0001425	HP:0001425	Heterogeneous	0	MAP2K1 CL E G H	5604	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	23	214	6840	176872
HP:0001425	HP:0001425	Heterogeneous	0	MAPT CL E G H	4137	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	120	330	6893	157140
HP:0001425	HP:0001425	Heterogeneous	0	MAPT CL E G H	4137	601104	Progressive supranuclear ophthalmoplegia	601104	C0038868	OMIM	1	120	330	6893	157140
HP:0001425	HP:0001425	Heterogeneous	0	MATN3 CL E G H	4148	607078	Multiple epiphyseal dysplasia 5	607078	C1846843	OMIM	1	28	71	6909	602109
HP:0001425	HP:0001425	Heterogeneous	0	MBTPS2 CL E G H	51360	308800	Keratosis pilaris decalvans	308800	C0343057	OMIM	1	26	204	15455	300294
HP:0001425	HP:0001425	Heterogeneous	0	MCCC1 CL E G H	56922	210200	3 Methylcrotonyl-CoA carboxylase 1 deficiency	210200	CN028786	OMIM	1	108	230	6936	609010
HP:0001425	HP:0001425	Heterogeneous	0	MCCC2 CL E G H	64087	210210	3-methylcrotonyl CoA carboxylase 2 deficiency	210210	C1859499	OMIM	1	117	173	6937	609014
HP:0001425	HP:0001425	Heterogeneous	0	MET CL E G H	4233	114550	Hepatocellular carcinoma	114550	C2239176	OMIM	1	39	1036	7029	164860
HP:0001425	HP:0001425	Heterogeneous	0	MID1 CL E G H	4281	300000	Opitz-Frias syndrome	300000	C0175696	OMIM	1	98	280	7095	300552
HP:0001425	HP:0001425	Heterogeneous	0	MITF CL E G H	4286	193510	Waardenburg syndrome type 2A	193510	C1860339	OMIM	1	61	185	7105	156845
HP:0001425	HP:0001425	Heterogeneous	0	MLPH CL E G H	79083	609227	Griscelli syndrome type 3	609227	C1836573	OMIM	1	9	107	29643	606526
HP:0001425	HP:0001425	Heterogeneous	0	MPZ CL E G H	4359	118200	Charcot-Marie-Tooth disease, demyelinating, type 1b	118200	C0270912	OMIM	1	246	378	7225	159440
HP:0001425	HP:0001425	Heterogeneous	0	MPZ CL E G H	4359	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	246	378	7225	159440
HP:0001425	HP:0001425	Heterogeneous	0	MRPS16 CL E G H	51021	610498	Combined oxidative phosphorylation deficiency 2	610498	C1864843	OMIM	1	1	82	14048	609204
HP:0001425	HP:0001425	Heterogeneous	0	MSX2 CL E G H	4488	168500	Parietal foramina 1	168500	C1868599	OMIM	1	26	76	7392	123101
HP:0001425	HP:0001425	Heterogeneous	0	MT-ATP6 CL E G H	4508	535000	Leber's optic atrophy	535000	C0917796	OMIM	1			7414	516060
HP:0001425	HP:0001425	Heterogeneous	0	MT-CO3 CL E G H	4514	535000	Leber's optic atrophy	535000	C0917796	OMIM	1			7422	516050
HP:0001425	HP:0001425	Heterogeneous	0	MT-CYB CL E G H	4519	535000	Leber's optic atrophy	535000	C0917796	OMIM	1			7427	516020
HP:0001425	HP:0001425	Heterogeneous	0	MT-ND1 CL E G H	4535	535000	Leber's optic atrophy	535000	C0917796	OMIM	1			7455	516000
HP:0001425	HP:0001425	Heterogeneous	0	MT-ND2 CL E G H	4536	535000	Leber's optic atrophy	535000	C0917796	OMIM	1			7456	516001
HP:0001425	HP:0001425	Heterogeneous	0	MT-ND4 CL E G H	4538	535000	Leber's optic atrophy	535000	C0917796	OMIM	1			7459	516003
HP:0001425	HP:0001425	Heterogeneous	0	MT-ND4L CL E G H	4539	535000	Leber's optic atrophy	535000	C0917796	OMIM	1			7460	516004
HP:0001425	HP:0001425	Heterogeneous	0	MT-ND5 CL E G H	4540	535000	Leber's optic atrophy	535000	C0917796	OMIM	1			7461	516005
HP:0001425	HP:0001425	Heterogeneous	0	MT-ND6 CL E G H	4541	535000	Leber's optic atrophy	535000	C0917796	OMIM	1			7462	516006
HP:0001425	HP:0001425	Heterogeneous	0	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1			7493	590010
HP:0001425	HP:0001425	Heterogeneous	0	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1			7497	590080
HP:0001425	HP:0001425	Heterogeneous	0	MTMR2 CL E G H	8898	601382	Charcot-Marie-Tooth disease, type 4B1	601382	C1832399	OMIM	1	24	230	7450	603557
HP:0001425	HP:0001425	Heterogeneous	0	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	1002	1932	7577	160760
HP:0001425	HP:0001425	Heterogeneous	0	MYO7A CL E G H	4647	276900	Usher syndrome, type 1	276900	C1568247	OMIM	1	527	998	7606	276903
HP:0001425	HP:0001425	Heterogeneous	0	NEB CL E G H	4703	256030	Nemaline myopathy 2	256030	C1850569	OMIM	1	321	2499	7720	161650
HP:0001425	HP:0001425	Heterogeneous	0	NEFL CL E G H	4747	607734	Charcot-Marie-Tooth disease, demyelinating, type 1f	607734	C1843164	OMIM	1	44	297	7739	162280
HP:0001425	HP:0001425	Heterogeneous	0	NHLRC1 CL E G H	378884	254780	Lafora disease	254780	C0751783	OMIM	1	71	149	21576	608072
HP:0001425	HP:0001425	Heterogeneous	0	NLGN4X CL E G H	57502	300495	Autism, susceptibility to, X-linked 2	300495	C1845539	OMIM	1	36	316	14287	300427
HP:0001425	HP:0001425	Heterogeneous	0	NME1 CL E G H	4830	256700	Neuroblastoma	256700	C0027819	OMIM	1	1	13	7849	156490
HP:0001425	HP:0001425	Heterogeneous	0	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	1	478	630	7897	607623
HP:0001425	HP:0001425	Heterogeneous	0	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	27	71	14537	601015
HP:0001425	HP:0001425	Heterogeneous	0	NPHP1 CL E G H	4867	609583	Joubert syndrome 4	609583	C1846790	OMIM	1	79	340	7905	607100
HP:0001425	HP:0001425	Heterogeneous	0	NPHP1 CL E G H	4867	266900	Senior-Loken syndrome 1	266900	C0403553	OMIM	1	79	340	7905	607100
HP:0001425	HP:0001425	Heterogeneous	0	NPHP4 CL E G H	261734	606996	Senior-Loken syndrome 4	606996	C1846979	OMIM	1	118	539	19104	607215
HP:0001425	HP:0001425	Heterogeneous	0	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	1	31	249	13398	300275
HP:0001425	HP:0001425	Heterogeneous	0	ORC1 CL E G H	4998	224690	Meier-Gorlin syndrome 1	224690	CN030358	OMIM	1	12	83	8487	601902
HP:0001425	HP:0001425	Heterogeneous	0	PDGFRL CL E G H	5157	114550	Hepatocellular carcinoma	114550	C2239176	OMIM	1	1	80	8805	604584
HP:0001425	HP:0001425	Heterogeneous	0	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	2	27	40038	614770
HP:0001425	HP:0001425	Heterogeneous	0	PEX1 CL E G H	5189	214100	Zellweger syndrome	214100	C0043459	OMIM	1	140	402	8850	602136
HP:0001425	HP:0001425	Heterogeneous	0	PIK3CA CL E G H	5290	114480	Familial cancer of breast	114480	C0346153	OMIM	1	57	338	8975	171834
HP:0001425	HP:0001425	Heterogeneous	0	PIK3CA CL E G H	5290	114550	Hepatocellular carcinoma	114550	C2239176	OMIM	1	57	338	8975	171834
HP:0001425	HP:0001425	Heterogeneous	0	PITX2 CL E G H	5308	180500	Axenfeld-Rieger syndrome type 1	180500	C3714873	OMIM	1	104	83	9005	601542
HP:0001425	HP:0001425	Heterogeneous	0	PMP22 CL E G H	5376	118220	Charcot-Marie-Tooth disease, type IA	118220	C0270911	OMIM	1	165	293	9118	601097
HP:0001425	HP:0001425	Heterogeneous	0	PMP22 CL E G H	5376	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	165	293	9118	601097
HP:0001425	HP:0001425	Heterogeneous	0	POLG CL E G H	5428	157640	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1	157640	C1834846	OMIM	1	300	1084	9179	174763
HP:0001425	HP:0001425	Heterogeneous	0	POMGNT1 CL E G H	55624	253280	Muscle eye brain disease	253280	C0457133	OMIM	1	89	400	19139	606822
HP:0001425	HP:0001425	Heterogeneous	0	POMT1 CL E G H	10585	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	96	444	9202	607423
HP:0001425	HP:0001425	Heterogeneous	0	POMT2 CL E G H	29954	613150	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2	613150	C3150411	OMIM	1	75	425	19743	607439
HP:0001425	HP:0001425	Heterogeneous	0	POMT2 CL E G H	29954	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	75	425	19743	607439
HP:0001425	HP:0001425	Heterogeneous	0	PPM1D CL E G H	8493	114480	Familial cancer of breast	114480	C0346153	OMIM	1	63	74	9277	605100
HP:0001425	HP:0001425	Heterogeneous	0	PRKAG2 CL E G H	51422	600858	Familial hypertrophic cardiomyopathy 6	600858	C1833236	OMIM	1	61	474	9386	602743
HP:0001425	HP:0001425	Heterogeneous	0	PRKAR1A CL E G H	5573	160980	Carney complex, type 1	160980	C2607929	OMIM	1	188	365	9388	188830
HP:0001425	HP:0001425	Heterogeneous	0	PRX CL E G H	57716	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	62	512	13797	605725
HP:0001425	HP:0001425	Heterogeneous	0	PSEN1 CL E G H	5663	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	320	305	9508	104311
HP:0001425	HP:0001425	Heterogeneous	0	PTCH1 CL E G H	5727	109400	Gorlin syndrome	109400	C0004779	OMIM	1	529	1688	9585	601309
HP:0001425	HP:0001425	Heterogeneous	0	PTCH2 CL E G H	8643	109400	Gorlin syndrome	109400	C0004779	OMIM	1	11	206	9586	603673
HP:0001425	HP:0001425	Heterogeneous	0	PTPN11 CL E G H	5781	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	143	403	9644	176876
HP:0001425	HP:0001425	Heterogeneous	0	RB1CC1 CL E G H	9821	114480	Familial cancer of breast	114480	C0346153	OMIM	1	4	82	15574	606837
HP:0001425	HP:0001425	Heterogeneous	0	RP1 CL E G H	6101	180100	Retinitis pigmentosa 1	180100	C0220701	OMIM	1	190	236	10263	603937
HP:0001425	HP:0001425	Heterogeneous	0	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	51	303	29168	610937
HP:0001425	HP:0001425	Heterogeneous	0	RPGRIP1L CL E G H	23322	611560	Joubert syndrome 7	611560	C1969053	OMIM	1	51	303	29168	610937
HP:0001425	HP:0001425	Heterogeneous	0	RPGRIP1L CL E G H	23322	611561	Meckel syndrome type 5	611561	C1969052	OMIM	1	51	303	29168	610937
HP:0001425	HP:0001425	Heterogeneous	0	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	688	2694	10483	180901
HP:0001425	HP:0001425	Heterogeneous	0	SAMD12 CL E G H	401474	601068	Epilepsy, familial adult myoclonic, 1	601068	C1832841	OMIM	1	1	48	31750	618073
HP:0001425	HP:0001425	Heterogeneous	0	SBF2 CL E G H	81846	604563	Charcot-Marie-Tooth disease, type 4B2	604563	C1858278	OMIM	1	29	530	2135	607697
HP:0001425	HP:0001425	Heterogeneous	0	SCN5A CL E G H	6331	603830	Long QT syndrome 3	603830	C1859062	OMIM	1	914	1704	10593	600163
HP:0001425	HP:0001425	Heterogeneous	0	SCN5A CL E G H	6331	113900	Progressive familial heart block type 1A	113900	C1879286	OMIM	1	914	1704	10593	600163
HP:0001425	HP:0001425	Heterogeneous	0	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	5	83	10603	603644
HP:0001425	HP:0001425	Heterogeneous	0	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	91	1072	10680	600857
HP:0001425	HP:0001425	Heterogeneous	0	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	63	266	15999	606210
HP:0001425	HP:0001425	Heterogeneous	0	SFTPB CL E G H	6439	265120	Surfactant metabolism dysfunction, pulmonary, 1	265120	C1968602	OMIM	1	31	78	10801	178640
HP:0001425	HP:0001425	Heterogeneous	0	SFTPC CL E G H	6440	610913	Surfactant metabolism dysfunction, pulmonary, 2	610913	C1970470	OMIM	1	87	125	10802	178620
HP:0001425	HP:0001425	Heterogeneous	0	SH3TC2 CL E G H	79628	601596	Charcot-Marie-Tooth disease, type 4C	601596	C1866636	OMIM	1	102	785	29427	608206
HP:0001425	HP:0001425	Heterogeneous	0	SIX1 CL E G H	6495	113650	Melnick-Fraser syndrome	113650	C0265234	OMIM	1	20	85	10887	601205
HP:0001425	HP:0001425	Heterogeneous	0	SIX3 CL E G H	6496	157170	Holoprosencephaly 2	157170	C1834877	OMIM	1	91	88	10889	603714
HP:0001425	HP:0001425	Heterogeneous	0	SLC12A1 CL E G H	6557	601678	Bartter syndrome, type 1, antenatal	601678	C1866495	OMIM	1	90	137	10910	600839
HP:0001425	HP:0001425	Heterogeneous	0	SLC16A1 CL E G H	6566	610021	Exercise-induced hyperinsulinemic hypoglycemia	610021	C1864902	OMIM	1	14	107	10922	600682
HP:0001425	HP:0001425	Heterogeneous	0	SLC22A18 CL E G H	5002	114480	Familial cancer of breast	114480	C0346153	OMIM	1	1	35	10964	602631
HP:0001425	HP:0001425	Heterogeneous	0	SLC25A38 CL E G H	54977	205950	Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive	205950	C2673914	OMIM	1	29	68	26054	610819
HP:0001425	HP:0001425	Heterogeneous	0	SLC25A4 CL E G H	291	609283	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2	609283	C1836460	OMIM	1	17	205	10990	103220
HP:0001425	HP:0001425	Heterogeneous	0	SNAI2 CL E G H	6591	608890	Waardenburg syndrome type 2D	608890	C1837203	OMIM	1	4	54	11094	602150
HP:0001425	HP:0001425	Heterogeneous	0	SNRPN CL E G H	6638	209850	Autistic disorder of childhood onset	209850	C0004352	OMIM	1	25	380	11164	182279
HP:0001425	HP:0001425	Heterogeneous	0	SOD1 CL E G H	6647	105400	Amyotrophic lateral sclerosis type 1	105400	C1862939	OMIM	1	217	137	11179	147450
HP:0001425	HP:0001425	Heterogeneous	0	SOX10 CL E G H	6663	611584	Waardenburg syndrome type 2E	611584	C2700405	OMIM	1	151	165	11190	602229
HP:0001425	HP:0001425	Heterogeneous	0	SOX10 CL E G H	6663	613266	Waardenburg syndrome type 4C	613266	C2750452	OMIM	1	151	165	11190	602229
HP:0001425	HP:0001425	Heterogeneous	0	SPTA1 CL E G H	6708	130600	Elliptocytosis 2	130600	C1851741	OMIM	1	59	288	11272	182860
HP:0001425	HP:0001425	Heterogeneous	0	SUFU CL E G H	51684	109400	Gorlin syndrome	109400	C0004779	OMIM	1	47	426	16466	607035
HP:0001425	HP:0001425	Heterogeneous	0	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	128	163	11474	185620
HP:0001425	HP:0001425	Heterogeneous	0	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	3	49	24316	612958
HP:0001425	HP:0001425	Heterogeneous	0	TCIRG1 CL E G H	10312	259700	Osteopetrosis autosomal recessive 1	259700	C1850127	OMIM	1	137	252	11647	604592
HP:0001425	HP:0001425	Heterogeneous	0	TGFB3 CL E G H	7043	107970	Arrhythmogenic right ventricular dysplasia, familial 1	107970	C1862511	OMIM	1	34	246	11769	190230
HP:0001425	HP:0001425	Heterogeneous	0	TGFBR1 CL E G H	7046	609192	Loeys-Dietz syndrome 1	609192	C2697933	OMIM	1	79	412	11772	190181
HP:0001425	HP:0001425	Heterogeneous	0	TGFBR2 CL E G H	7048	610168	Loeys-Dietz syndrome 2	610168	C2674876	OMIM	1	148	404	11773	190182
HP:0001425	HP:0001425	Heterogeneous	0	TMEM216 CL E G H	51259	608091	Joubert syndrome 2	608091	C1842577	OMIM	1	8	89	25018	613277
HP:0001425	HP:0001425	Heterogeneous	0	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	174	279	28396	609884
HP:0001425	HP:0001425	Heterogeneous	0	TMEM67 CL E G H	91147	610688	Joubert syndrome 6	610688	C1853153	OMIM	1	174	279	28396	609884
HP:0001425	HP:0001425	Heterogeneous	0	TNNI3 CL E G H	7137	613690	Familial hypertrophic cardiomyopathy 7	613690	C1860752	OMIM	1	131	323	11947	191044
HP:0001425	HP:0001425	Heterogeneous	0	TP53 CL E G H	7157	114480	Familial cancer of breast	114480	C0346153	OMIM	1	541	1790	11998	191170
HP:0001425	HP:0001425	Heterogeneous	0	TP53 CL E G H	7157	114550	Hepatocellular carcinoma	114550	C2239176	OMIM	1	541	1790	11998	191170
HP:0001425	HP:0001425	Heterogeneous	0	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	40	180	12011	190990
HP:0001425	HP:0001425	Heterogeneous	0	TPM2 CL E G H	7169	108120	Distal arthrogryposis type 1A	108120	C0220662	OMIM	1	40	180	12011	190990
HP:0001425	HP:0001425	Heterogeneous	0	TPM2 CL E G H	7169	609285	Nemaline myopathy 4	609285	C1836447	OMIM	1	40	180	12011	190990
HP:0001425	HP:0001425	Heterogeneous	0	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	28	149	12012	191030
HP:0001425	HP:0001425	Heterogeneous	0	TPM3 CL E G H	7170	609284	Nemaline myopathy 1	609284	C1836448	OMIM	1	28	149	12012	191030
HP:0001425	HP:0001425	Heterogeneous	0	TSC1 CL E G H	7248	191100	Tuberous sclerosis 1	191100	C1854465	OMIM	1	404	1999	12362	605284
HP:0001425	HP:0001425	Heterogeneous	0	TSC2 CL E G H	7249	613254	Tuberous sclerosis 2	613254	C1860707	OMIM	1	1269	4885	12363	191092
HP:0001425	HP:0001425	Heterogeneous	0	USH1C CL E G H	10083	276900	Usher syndrome, type 1	276900	C1568247	OMIM	1	51	418	12597	605242
HP:0001425	HP:0001425	Heterogeneous	0	VSX1 CL E G H	30813	148300	Keratoconus 1	148300	C1835677	OMIM	1	24	79	12723	605020
HP:0001425	HP:0001425	Heterogeneous	0	WNT3 CL E G H	7473	273395	Tetraamelia, autosomal recessive	273395	C4012268	OMIM	1	2	29	12782	165330
HP:0001425	HP:0001425	Heterogeneous	0	WT1 CL E G H	7490	194070	Wilms tumor 1	194070	CN033288	OMIM	1	184	490	12796	607102
HP:0001425	HP:0001425	Heterogeneous	0	YARS CL E G H	8565	608323	Charcot-Marie-Tooth disease, dominant intermediate C	608323	C1842237	OMIM	1	14		12840	603623
HP:0001425	HP:0001425	Heterogeneous	0	ZMPSTE24 CL E G H	10269	275210	Lethal tight skin contracture syndrome	275210	C0406585	OMIM	1	34	118	12877	606480
HP:0001425	HP:0001425	Heterogeneous	0	ZMPSTE24 CL E G H	10269	608612	Mandibuloacral dysplasia with type B lipodystrophy	608612	C1837756	OMIM	1	34	118	12877	606480
HPO disease - gene - phenotype less frequent non-typical associations: