Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5		23
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia		178
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome		147
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis		145
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome		1
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis		1
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis		317
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect		247
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome		11
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional	5
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal		8
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome		8
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		57
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	DGUOK CL E G H	1716	2858	OMIM:617068	Portal hypertension, noncirrhotic		57
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome		9
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6		9
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome		18
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease		4
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia		186
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome		4
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome		159
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional	11
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV		86
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia		8
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	GDF2 CL E G H	2658	4217	OMIM:615506	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT5		8
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism		143
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1		38
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis		46
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect		111
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis		4
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome		57
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera		57
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis		57
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	KRIT1 CL E G H	889	1573	OMIM:116860	Cerebral cavernous malformations 1		92
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG		51
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera		97
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis		97
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis		5
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome		452
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency		6
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease		563
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease		563
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease		563
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome		3
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect		167
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis		181
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency		2
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome		42
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia		504
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome		504
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis		1
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2		2
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional	2
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis		3
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera		3
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis		3
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4		149
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1		166
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect		166
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome		166
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis		71
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040282 - Frequent	56
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0006707	HP:0006707	Abnormality of the hepatic vasculature	0	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0006707	HP:0032181	Anomalous hepatic venous drainage into the left atrium	1	CL E G H
HP:0006707	HP:0001409	Portal hypertension	1	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0006707	HP:0001409	Portal hypertension	1	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5		23
HP:0006707	HP:0001409	Portal hypertension	1	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent	178
HP:0006707	HP:0006574	Hepatic arteriovenous malformation	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0006707	HP:0001409	Portal hypertension	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0006707	HP:0001409	Portal hypertension	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0006707	HP:0001409	Portal hypertension	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	147
HP:0006707	HP:0001409	Portal hypertension	1	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	145
HP:0006707	HP:0001409	Portal hypertension	1	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0006707	HP:0001409	Portal hypertension	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0006707	HP:0001409	Portal hypertension	1	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome	HP:0040281 - Very frequent	1
HP:0006707	HP:0001409	Portal hypertension	1	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	1
HP:0006707	HP:0001409	Portal hypertension	1	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	317
HP:0006707	HP:0001409	Portal hypertension	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	247
HP:0006707	HP:0001409	Portal hypertension	1	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome	HP:0040283 - Occasional	11
HP:0006707	HP:0001409	Portal hypertension	1	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal	.	8
HP:0006707	HP:0001409	Portal hypertension	1	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome		8
HP:0006707	HP:0001409	Portal hypertension	1	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.	57
HP:0006707	HP:0001409	Portal hypertension	1	DGUOK CL E G H	1716	2858	OMIM:617068	Portal hypertension, noncirrhotic	.	57
HP:0006707	HP:0001409	Portal hypertension	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	9
HP:0006707	HP:0001409	Portal hypertension	1	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6	HP:0040283 - Occasional	9
HP:0006707	HP:0001409	Portal hypertension	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	18
HP:0006707	HP:0001409	Portal hypertension	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	4
HP:0006707	HP:0001409	Portal hypertension	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0006707	HP:0001409	Portal hypertension	1	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent	186
HP:0006707	HP:0006574	Hepatic arteriovenous malformation	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0006707	HP:0001409	Portal hypertension	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	4
HP:0006707	HP:0001409	Portal hypertension	1	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome	HP:0040281 - Very frequent	159
HP:0006707	HP:0001409	Portal hypertension	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0006707	HP:0001409	Portal hypertension	1	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV	.	86
HP:0006707	HP:0001409	Portal hypertension	1	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent	8
HP:0006707	HP:0001409	Portal hypertension	1	GDF2 CL E G H	2658	4217	OMIM:615506	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT5		8
HP:0006707	HP:0001409	Portal hypertension	1	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0006707	HP:0001409	Portal hypertension	1	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism		143
HP:0006707	HP:0001409	Portal hypertension	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0006707	HP:0001409	Portal hypertension	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	2
HP:0006707	HP:0001409	Portal hypertension	1	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional	38
HP:0006707	HP:0001409	Portal hypertension	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0006707	HP:0001409	Portal hypertension	1	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0006707	HP:0001409	Portal hypertension	1	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	46
HP:0006707	HP:0001409	Portal hypertension	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	111
HP:0006707	HP:0001409	Portal hypertension	1	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	4
HP:0006707	HP:0001409	Portal hypertension	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0006707	HP:0001409	Portal hypertension	1	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040283 - Occasional	3
HP:0006707	HP:0001409	Portal hypertension	1	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome	HP:0040281 - Very frequent	57
HP:0006707	HP:0001409	Portal hypertension	1	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	57
HP:0006707	HP:0001409	Portal hypertension	1	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	57
HP:0006707	HP:0001409	Portal hypertension	1	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0006707	HP:0006576	Hepatic vascular malformations	1	KRIT1 CL E G H	889	1573	OMIM:116860	Cerebral cavernous malformations 1	.	92
HP:0006707	HP:0001409	Portal hypertension	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0006707	HP:0001409	Portal hypertension	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0006707	HP:0001409	Portal hypertension	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0006707	HP:0001409	Portal hypertension	1	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0006707	HP:0001409	Portal hypertension	1	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040282 - Frequent	51
HP:0006707	HP:0001409	Portal hypertension	1	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	97
HP:0006707	HP:0001409	Portal hypertension	1	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	97
HP:0006707	HP:0001409	Portal hypertension	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	1
HP:0006707	HP:0001409	Portal hypertension	1	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis	HP:0040282 - Frequent	5
HP:0006707	HP:0001409	Portal hypertension	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	452
HP:0006707	HP:0001409	Portal hypertension	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0006707	HP:0001409	Portal hypertension	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0006707	HP:0001409	Portal hypertension	1	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency	.	6
HP:0006707	HP:0001409	Portal hypertension	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	563
HP:0006707	HP:0001409	Portal hypertension	1	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040284 - Very rare	563
HP:0006707	HP:0001409	Portal hypertension	1	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	.	563
HP:0006707	HP:0001409	Portal hypertension	1	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0006707	HP:0001409	Portal hypertension	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0006707	HP:0001409	Portal hypertension	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	3
HP:0006707	HP:0031941	Abnormal portal venous system morphology	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0006707	HP:0001409	Portal hypertension	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0006707	HP:0001409	Portal hypertension	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	167
HP:0006707	HP:0001409	Portal hypertension	1	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	181
HP:0006707	HP:0001409	Portal hypertension	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent
HP:0006707	HP:0001409	Portal hypertension	1	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent	2
HP:0006707	HP:0001409	Portal hypertension	1	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040282 - Frequent	42
HP:0006707	HP:0001409	Portal hypertension	1	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent	504
HP:0006707	HP:0006574	Hepatic arteriovenous malformation	1	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome		504
HP:0006707	HP:0001409	Portal hypertension	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0006707	HP:0001409	Portal hypertension	1	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040283 - Occasional	49
HP:0006707	HP:0001409	Portal hypertension	1	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0006707	HP:0001409	Portal hypertension	1	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	1
HP:0006707	HP:0001409	Portal hypertension	1	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2	.	2
HP:0006707	HP:0001409	Portal hypertension	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	241
HP:0006707	HP:0001409	Portal hypertension	1	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	3
HP:0006707	HP:0001409	Portal hypertension	1	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	3
HP:0006707	HP:0001409	Portal hypertension	1	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	3
HP:0006707	HP:0001409	Portal hypertension	1	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4		149
HP:0006707	HP:0001409	Portal hypertension	1	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1	.	166
HP:0006707	HP:0001409	Portal hypertension	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	166
HP:0006707	HP:0001409	Portal hypertension	1	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome		166
HP:0006707	HP:0001409	Portal hypertension	1	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0006707	HP:0001409	Portal hypertension	1	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	71
HP:0006707	HP:0001409	Portal hypertension	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0006707	HP:0001409	Portal hypertension	1	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0006707	HP:0001409	Portal hypertension	1	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0006707	HP:0031942	Congenital absence of portal vein	2	CL E G H
HP:0006707	HP:0031015	Intrahepatic portal vein sclerosis	2	CL E G H
HP:0006707	HP:0004941	Extrahepatic portal hypertension	2	CL E G H
HP:0006707	HP:0005201	Anomalous splenoportal venous system	2	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445