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:0002040	HP:0002040	Esophageal varix	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	178
HP:0002040	HP:0002040	Esophageal varix	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0002040	HP:0002040	Esophageal varix	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0002040	HP:0002040	Esophageal varix	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	147
HP:0002040	HP:0002040	Esophageal varix	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.	315
HP:0002040	HP:0002040	Esophageal varix	0	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome	HP:0040282 - Frequent	1
HP:0002040	HP:0002040	Esophageal varix	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040283 - Occasional	242
HP:0002040	HP:0002040	Esophageal varix	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0002040	HP:0002040	Esophageal varix	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome		8
HP:0002040	HP:0002040	Esophageal varix	0	DGUOK CL E G H	1716	2858	OMIM:617068	Portal hypertension, noncirrhotic		57
HP:0002040	HP:0002040	Esophageal varix	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	9
HP:0002040	HP:0002040	Esophageal varix	0	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6	HP:0040283 - Occasional	9
HP:0002040	HP:0002040	Esophageal varix	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	18
HP:0002040	HP:0002040	Esophageal varix	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	4
HP:0002040	HP:0002040	Esophageal varix	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	186
HP:0002040	HP:0002040	Esophageal varix	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	4
HP:0002040	HP:0002040	Esophageal varix	0	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome	HP:0040282 - Frequent	159
HP:0002040	HP:0002040	Esophageal varix	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002040	HP:0002040	Esophageal varix	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0002040	HP:0002040	Esophageal varix	0	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV	.	86
HP:0002040	HP:0002040	Esophageal varix	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	8
HP:0002040	HP:0002040	Esophageal varix	0	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0002040	HP:0002040	Esophageal varix	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002040	HP:0002040	Esophageal varix	0	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome	HP:0040282 - Frequent	57
HP:0002040	HP:0002040	Esophageal varix	0	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0002040	HP:0002040	Esophageal varix	0	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0002040	HP:0002040	Esophageal varix	0	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial	.	19
HP:0002040	HP:0002040	Esophageal varix	0	LIPA CL E G H	3988	6617	ORPHA:75234	Cholesteryl ester storage disease	HP:0040283 - Occasional	73
HP:0002040	HP:0002040	Esophageal varix	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0002040	HP:0002040	Esophageal varix	0	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease	HP:0040283 - Occasional	73
HP:0002040	HP:0002040	Esophageal varix	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0002040	HP:0002040	Esophageal varix	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	452
HP:0002040	HP:0002040	Esophageal varix	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	HP:0040283 - Occasional	452
HP:0002040	HP:0002040	Esophageal varix	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare	54
HP:0002040	HP:0002040	Esophageal varix	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare	48
HP:0002040	HP:0002040	Esophageal varix	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	563
HP:0002040	HP:0002040	Esophageal varix	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040283 - Occasional	563
HP:0002040	HP:0002040	Esophageal varix	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	.	563
HP:0002040	HP:0002040	Esophageal varix	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	3
HP:0002040	HP:0002040	Esophageal varix	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040282 - Frequent	42
HP:0002040	HP:0002040	Esophageal varix	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	504
HP:0002040	HP:0002040	Esophageal varix	0	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2	.	2
HP:0002040	HP:0002040	Esophageal varix	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1		166
HP:0002040	HP:0002040	Esophageal varix	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome		166
HP:0002040	HP:0002040	Esophageal varix	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS