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:0006706	HP:0006706	Cystic liver disease	0	CC2D2A CL E G H	57545	612284	Meckel syndrome type 6	612284	C2676790	OMIM	1	1525	29253	612013
HP:0006706	HP:0001407	Hepatic cysts	1	CC2D2A CL E G H	57545	612284	Meckel syndrome type 6	612284	C2676790	OMIM	1	1525	29253	612013
HP:0006706	HP:0006557	Polycystic liver disease	1	CC2D2A CL E G H	57545	612284	Meckel syndrome type 6	612284	C2676790	OMIM	1	1525	29253	612013
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006706	HP:0006706	Cystic liver disease	0	B9D1 CL E G H	27077	564				ORPHA	0	310	24123	614144
HP:0006706	HP:0006706	Cystic liver disease	0	B9D2 CL E G H	80776	564				ORPHA	0	73	28636	611951
HP:0006706	HP:0006706	Cystic liver disease	0	CC2D2A CL E G H	57545	564				ORPHA	0	1525	29253	612013
HP:0006706	HP:0006706	Cystic liver disease	0	CEP290 CL E G H	80184	564				ORPHA	0	2944	29021	610142
HP:0006706	HP:0006706	Cystic liver disease	0	CEP55 CL E G H	55165	564				ORPHA	0	89	1161	610000
HP:0006706	HP:0006706	Cystic liver disease	0	CSPP1 CL E G H	79848	564				ORPHA	0	1074	26193	611654
HP:0006706	HP:0006706	Cystic liver disease	0	MKS1 CL E G H	54903	564				ORPHA	0	839	7121	609883
HP:0006706	HP:0006706	Cystic liver disease	0	RPGRIP1 CL E G H	57096	564				ORPHA	0	1010	13436	605446
HP:0006706	HP:0006706	Cystic liver disease	0	RPGRIP1L CL E G H	23322	564				ORPHA	0	1494	29168	610937
HP:0006706	HP:0006706	Cystic liver disease	0	TCTN2 CL E G H	79867	564				ORPHA	0	622	25774	613846
HP:0006706	HP:0006706	Cystic liver disease	0	TMEM107 CL E G H	84314	564				ORPHA	0	299	28128	616183
HP:0006706	HP:0006706	Cystic liver disease	0	TMEM216 CL E G H	51259	564				ORPHA	0	236	25018	613277
HP:0006706	HP:0006706	Cystic liver disease	0	TMEM231 CL E G H	79583	564				ORPHA	0	463	37234	614949
HP:0006706	HP:0006706	Cystic liver disease	0	TMEM67 CL E G H	91147	564				ORPHA	0	928	28396	609884
HP:0006706	HP:0006706	Cystic liver disease	0	WDPCP CL E G H	51057	564				ORPHA	0	587	28027	613580
HP:0006706	HP:0006557	Polycystic liver disease	1	B9D1 CL E G H	27077	564				ORPHA	0	310	24123	614144
HP:0006706	HP:0001407	Hepatic cysts	1	B9D1 CL E G H	27077	564				ORPHA	0	310	24123	614144
HP:0006706	HP:0006557	Polycystic liver disease	1	B9D2 CL E G H	80776	564				ORPHA	0	73	28636	611951
HP:0006706	HP:0001407	Hepatic cysts	1	B9D2 CL E G H	80776	564				ORPHA	0	73	28636	611951
HP:0006706	HP:0006557	Polycystic liver disease	1	CC2D2A CL E G H	57545	564				ORPHA	0	1525	29253	612013
HP:0006706	HP:0001407	Hepatic cysts	1	CC2D2A CL E G H	57545	564				ORPHA	0	1525	29253	612013
HP:0006706	HP:0001407	Hepatic cysts	1	CEP290 CL E G H	80184	564				ORPHA	0	2944	29021	610142
HP:0006706	HP:0006557	Polycystic liver disease	1	CEP290 CL E G H	80184	564				ORPHA	0	2944	29021	610142
HP:0006706	HP:0006557	Polycystic liver disease	1	CEP55 CL E G H	55165	564				ORPHA	0	89	1161	610000
HP:0006706	HP:0001407	Hepatic cysts	1	CEP55 CL E G H	55165	564				ORPHA	0	89	1161	610000
HP:0006706	HP:0006557	Polycystic liver disease	1	CSPP1 CL E G H	79848	564				ORPHA	0	1074	26193	611654
HP:0006706	HP:0001407	Hepatic cysts	1	CSPP1 CL E G H	79848	564				ORPHA	0	1074	26193	611654
HP:0006706	HP:0006557	Polycystic liver disease	1	MKS1 CL E G H	54903	564				ORPHA	0	839	7121	609883
HP:0006706	HP:0001407	Hepatic cysts	1	MKS1 CL E G H	54903	564				ORPHA	0	839	7121	609883
HP:0006706	HP:0001407	Hepatic cysts	1	RPGRIP1 CL E G H	57096	564				ORPHA	0	1010	13436	605446
HP:0006706	HP:0006557	Polycystic liver disease	1	RPGRIP1 CL E G H	57096	564				ORPHA	0	1010	13436	605446
HP:0006706	HP:0006557	Polycystic liver disease	1	RPGRIP1L CL E G H	23322	564				ORPHA	0	1494	29168	610937
HP:0006706	HP:0001407	Hepatic cysts	1	RPGRIP1L CL E G H	23322	564				ORPHA	0	1494	29168	610937
HP:0006706	HP:0006557	Polycystic liver disease	1	TCTN2 CL E G H	79867	564				ORPHA	0	622	25774	613846
HP:0006706	HP:0001407	Hepatic cysts	1	TCTN2 CL E G H	79867	564				ORPHA	0	622	25774	613846
HP:0006706	HP:0006557	Polycystic liver disease	1	TMEM107 CL E G H	84314	564				ORPHA	0	299	28128	616183
HP:0006706	HP:0001407	Hepatic cysts	1	TMEM107 CL E G H	84314	564				ORPHA	0	299	28128	616183
HP:0006706	HP:0001407	Hepatic cysts	1	TMEM216 CL E G H	51259	564				ORPHA	0	236	25018	613277
HP:0006706	HP:0006557	Polycystic liver disease	1	TMEM216 CL E G H	51259	564				ORPHA	0	236	25018	613277
HP:0006706	HP:0006557	Polycystic liver disease	1	TMEM231 CL E G H	79583	564				ORPHA	0	463	37234	614949
HP:0006706	HP:0001407	Hepatic cysts	1	TMEM231 CL E G H	79583	564				ORPHA	0	463	37234	614949
HP:0006706	HP:0006557	Polycystic liver disease	1	TMEM67 CL E G H	91147	564				ORPHA	0	928	28396	609884
HP:0006706	HP:0001407	Hepatic cysts	1	TMEM67 CL E G H	91147	564				ORPHA	0	928	28396	609884
HP:0006706	HP:0006557	Polycystic liver disease	1	WDPCP CL E G H	51057	564				ORPHA	0	587	28027	613580
HP:0006706	HP:0001407	Hepatic cysts	1	WDPCP CL E G H	51057	564				ORPHA	0	587	28027	613580