Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006706	HP:0006706	Cystic liver disease	0	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0006706	HP:0006706	Cystic liver disease	0	ALG8 CL E G H	79053	23161	OMIM:617874	POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS; PCLD3			46
HP:0006706	HP:0006706	Cystic liver disease	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0006706	HP:0006706	Cystic liver disease	0	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease			93
HP:0006706	HP:0006706	Cystic liver disease	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		28
HP:0006706	HP:0006706	Cystic liver disease	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		34
HP:0006706	HP:0006706	Cystic liver disease	0	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease			5
HP:0006706	HP:0006706	Cystic liver disease	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		247
HP:0006706	HP:0006706	Cystic liver disease	0	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6	HP:0040281 - Very frequent	HP:0003577 - Congenital onset	247
HP:0006706	HP:0006706	Cystic liver disease	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		342
HP:0006706	HP:0006706	Cystic liver disease	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		57
HP:0006706	HP:0006706	Cystic liver disease	0	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0006706	HP:0006706	Cystic liver disease	0	DNAJB11 CL E G H	51726	14889	OMIM:618061	Polycystic kidney disease 6 with or without polycystic liver disease
HP:0006706	HP:0006706	Cystic liver disease	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities			3
HP:0006706	HP:0006706	Cystic liver disease	0	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease			6
HP:0006706	HP:0006706	Cystic liver disease	0	GANAB CL E G H	23193	4138	OMIM:600666	Polycystic kidney disease 3			6
HP:0006706	HP:0006706	Cystic liver disease	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0006706	HP:0006706	Cystic liver disease	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0006706	HP:0006706	Cystic liver disease	0	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease			148
HP:0006706	HP:0006706	Cystic liver disease	0	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE			12
HP:0006706	HP:0006706	Cystic liver disease	0	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease			125
HP:0006706	HP:0006706	Cystic liver disease	0	LRP5 CL E G H	4041	6697	OMIM:617875	Polycystic liver disease 4 with or without kidney cysts			125
HP:0006706	HP:0006706	Cystic liver disease	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		127
HP:0006706	HP:0006706	Cystic liver disease	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2			43
HP:0006706	HP:0006706	Cystic liver disease	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0006706	HP:0006706	Cystic liver disease	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0006706	HP:0006706	Cystic liver disease	0	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease			342
HP:0006706	HP:0006706	Cystic liver disease	0	PKD1 CL E G H	5310	9008	OMIM:173900	Polycystic kidneys			342
HP:0006706	HP:0006706	Cystic liver disease	0	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease			106
HP:0006706	HP:0006706	Cystic liver disease	0	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2			106
HP:0006706	HP:0006706	Cystic liver disease	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease			563
HP:0006706	HP:0006706	Cystic liver disease	0	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease			63
HP:0006706	HP:0006706	Cystic liver disease	0	PRKCSH CL E G H	5589	9411	OMIM:174050	Polycystic liver disease 1 with or without kidney cysts			63
HP:0006706	HP:0006706	Cystic liver disease	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		109
HP:0006706	HP:0006706	Cystic liver disease	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		167
HP:0006706	HP:0006706	Cystic liver disease	0	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease			137
HP:0006706	HP:0006706	Cystic liver disease	0	SEC63 CL E G H	11231	21082	OMIM:617004	Polycystic liver disease 2			137
HP:0006706	HP:0006706	Cystic liver disease	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		45
HP:0006706	HP:0006706	Cystic liver disease	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		76
HP:0006706	HP:0006706	Cystic liver disease	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		31
HP:0006706	HP:0006706	Cystic liver disease	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		4
HP:0006706	HP:0006706	Cystic liver disease	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		45
HP:0006706	HP:0006706	Cystic liver disease	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		33
HP:0006706	HP:0006706	Cystic liver disease	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		82
HP:0006706	HP:0006706	Cystic liver disease	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		166
HP:0006706	HP:0006706	Cystic liver disease	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0006706	HP:0006706	Cystic liver disease	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0006706	HP:0006706	Cystic liver disease	0	TTC21B CL E G H	79809	25660	OMIM:613819	Short-Rib thoracic dysplasia 4 with or without polydactyly			132
HP:0006706	HP:0006706	Cystic liver disease	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		2
HP:0006706	HP:0006706	Cystic liver disease	0	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13			95
HP:0006706	HP:0006706	Cystic liver disease	0	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8			95
HP:0006706	HP:0001407	Hepatic cysts	1	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent
HP:0006706	HP:0006557	Polycystic liver disease	1	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional
HP:0006706	HP:0001407	Hepatic cysts	1	ALG8 CL E G H	79053	23161	OMIM:617874	POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS; PCLD3			46
HP:0006706	HP:0001407	Hepatic cysts	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0006706	HP:0001407	Hepatic cysts	1	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent		93
HP:0006706	HP:0006557	Polycystic liver disease	1	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		93
HP:0006706	HP:0006557	Polycystic liver disease	1	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		5
HP:0006706	HP:0001407	Hepatic cysts	1	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent		5
HP:0006706	HP:0001407	Hepatic cysts	1	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6			247
HP:0006706	HP:0006557	Polycystic liver disease	1	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional
HP:0006706	HP:0001407	Hepatic cysts	1	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent
HP:0006706	HP:0001407	Hepatic cysts	1	DNAJB11 CL E G H	51726	14889	OMIM:618061	Polycystic kidney disease 6 with or without polycystic liver disease	HP:0040284 - Very rare
HP:0006706	HP:0001407	Hepatic cysts	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	HP:0040283 - Occasional		3
HP:0006706	HP:0001407	Hepatic cysts	1	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent		6
HP:0006706	HP:0006557	Polycystic liver disease	1	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		6
HP:0006706	HP:0001407	Hepatic cysts	1	GANAB CL E G H	23193	4138	OMIM:600666	Polycystic kidney disease 3	.		6
HP:0006706	HP:0001407	Hepatic cysts	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		23
HP:0006706	HP:0001407	Hepatic cysts	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.		93
HP:0006706	HP:0006557	Polycystic liver disease	1	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		148
HP:0006706	HP:0001407	Hepatic cysts	1	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent		148
HP:0006706	HP:0001407	Hepatic cysts	1	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE			12
HP:0006706	HP:0006557	Polycystic liver disease	1	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease	HP:0040281 - Very frequent		125
HP:0006706	HP:0001407	Hepatic cysts	1	LRP5 CL E G H	4041	6697	OMIM:617875	Polycystic liver disease 4 with or without kidney cysts			125
HP:0006706	HP:0001407	Hepatic cysts	1	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2			43
HP:0006706	HP:0001407	Hepatic cysts	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.		157
HP:0006706	HP:0001407	Hepatic cysts	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.		201
HP:0006706	HP:0001407	Hepatic cysts	1	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent		342
HP:0006706	HP:0006557	Polycystic liver disease	1	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		342
HP:0006706	HP:0001407	Hepatic cysts	1	PKD1 CL E G H	5310	9008	OMIM:173900	Polycystic kidneys	.		342
HP:0006706	HP:0006557	Polycystic liver disease	1	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		106
HP:0006706	HP:0001407	Hepatic cysts	1	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent		106
HP:0006706	HP:0001407	Hepatic cysts	1	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2	HP:0040283 - Occasional		106
HP:0006706	HP:0001407	Hepatic cysts	1	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	.		563
HP:0006706	HP:0006557	Polycystic liver disease	1	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease	HP:0040281 - Very frequent		63
HP:0006706	HP:0006557	Polycystic liver disease	1	PRKCSH CL E G H	5589	9411	OMIM:174050	Polycystic liver disease 1 with or without kidney cysts	.		63
HP:0006706	HP:0006557	Polycystic liver disease	1	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease	HP:0040281 - Very frequent		137
HP:0006706	HP:0001407	Hepatic cysts	1	SEC63 CL E G H	11231	21082	OMIM:617004	Polycystic liver disease 2	.		137
HP:0006706	HP:0001407	Hepatic cysts	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		1090
HP:0006706	HP:0001407	Hepatic cysts	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		2738
HP:0006706	HP:0001407	Hepatic cysts	1	TTC21B CL E G H	79809	25660	OMIM:613819	Short-Rib thoracic dysplasia 4 with or without polydactyly	.		132
HP:0006706	HP:0001407	Hepatic cysts	1	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13	HP:0040283 - Occasional		95
HP:0006706	HP:0001407	Hepatic cysts	1	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8	.		95