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:0012115	HP:0012115	Hepatitis	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional	16
HP:0012115	HP:0012115	Hepatitis	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0012115	HP:0012115	Hepatitis	0	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0012115	HP:0012115	Hepatitis	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0012115	HP:0012115	Hepatitis	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome		404
HP:0012115	HP:0012115	Hepatitis	0	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4		44
HP:0012115	HP:0012115	Hepatitis	0	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4		44
HP:0012115	HP:0012115	Hepatitis	0	APC CL E G H	324	583	OMIM:114550	Hepatocellular carcinoma		3179
HP:0012115	HP:0012115	Hepatitis	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent	192
HP:0012115	HP:0012115	Hepatitis	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent	315
HP:0012115	HP:0012115	Hepatitis	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0012115	HP:0012115	Hepatitis	0	AXIN1 CL E G H	8312	903	OMIM:114550	Hepatocellular carcinoma		3
HP:0012115	HP:0012115	Hepatitis	0	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	4
HP:0012115	HP:0012115	Hepatitis	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0012115	HP:0012115	Hepatitis	0	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0012115	HP:0012115	Hepatitis	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040283 - Occasional	109
HP:0012115	HP:0012115	Hepatitis	0	C1S CL E G H	716	1247	OMIM:613783	Complement component c1s deficiency	.	7
HP:0012115	HP:0012115	Hepatitis	0	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency		1
HP:0012115	HP:0012115	Hepatitis	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0012115	HP:0012115	Hepatitis	0	CASP8 CL E G H	841	1509	OMIM:114550	Hepatocellular carcinoma		37
HP:0012115	HP:0012115	Hepatitis	0	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	8
HP:0012115	HP:0012115	Hepatitis	0	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	18
HP:0012115	HP:0012115	Hepatitis	0	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	24
HP:0012115	HP:0012115	Hepatitis	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0012115	HP:0012115	Hepatitis	0	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	9
HP:0012115	HP:0012115	Hepatitis	0	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	6
HP:0012115	HP:0012115	Hepatitis	0	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II		118
HP:0012115	HP:0012115	Hepatitis	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0012115	HP:0012115	Hepatitis	0	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	3
HP:0012115	HP:0012115	Hepatitis	0	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	HP:0040283 - Occasional	71
HP:0012115	HP:0012115	Hepatitis	0	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh		39
HP:0012115	HP:0012115	Hepatitis	0	CTNNB1 CL E G H	1499	2514	OMIM:114550	Hepatocellular carcinoma		88
HP:0012115	HP:0012115	Hepatitis	0	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040281 - Very frequent	11
HP:0012115	HP:0012115	Hepatitis	0	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3	.	57
HP:0012115	HP:0012115	Hepatitis	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0012115	HP:0012115	Hepatitis	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0012115	HP:0012115	Hepatitis	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional	32
HP:0012115	HP:0012115	Hepatitis	0	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0012115	HP:0012115	Hepatitis	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	.	143
HP:0012115	HP:0012115	Hepatitis	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040284 - Very rare	101
HP:0012115	HP:0012115	Hepatitis	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	2
HP:0012115	HP:0012115	Hepatitis	0	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7	HP:0040282 - Frequent	54
HP:0012115	HP:0012115	Hepatitis	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia		580
HP:0012115	HP:0012115	Hepatitis	0	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1		26
HP:0012115	HP:0012115	Hepatitis	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0012115	HP:0012115	Hepatitis	0	IGF2R CL E G H	3482	5467	OMIM:114550	Hepatocellular carcinoma		4
HP:0012115	HP:0012115	Hepatitis	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0012115	HP:0012115	Hepatitis	0	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	7
HP:0012115	HP:0012115	Hepatitis	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0012115	HP:0012115	Hepatitis	0	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	3
HP:0012115	HP:0012115	Hepatitis	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0012115	HP:0012115	Hepatitis	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional	46
HP:0012115	HP:0012115	Hepatitis	0	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	14
HP:0012115	HP:0012115	Hepatitis	0	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	196
HP:0012115	HP:0012115	Hepatitis	0	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	4
HP:0012115	HP:0012115	Hepatitis	0	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0012115	HP:0012115	Hepatitis	0	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0012115	HP:0012115	Hepatitis	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional	4
HP:0012115	HP:0012115	Hepatitis	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0012115	HP:0012115	Hepatitis	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040282 - Frequent	3
HP:0012115	HP:0012115	Hepatitis	0	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial		19
HP:0012115	HP:0012115	Hepatitis	0	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	3
HP:0012115	HP:0012115	Hepatitis	0	MET CL E G H	4233	7029	OMIM:114550	Hepatocellular carcinoma		375
HP:0012115	HP:0012115	Hepatitis	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0012115	HP:0012115	Hepatitis	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	1
HP:0012115	HP:0012115	Hepatitis	0	PDGFRL CL E G H	5157	8805	OMIM:114550	Hepatocellular carcinoma		2
HP:0012115	HP:0012115	Hepatitis	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It	.	58
HP:0012115	HP:0012115	Hepatitis	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare	11
HP:0012115	HP:0012115	Hepatitis	0	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema	HP:0040283 - Occasional	36
HP:0012115	HP:0012115	Hepatitis	0	PIK3CA CL E G H	5290	8975	OMIM:114550	Hepatocellular carcinoma		162
HP:0012115	HP:0012115	Hepatitis	0	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	43
HP:0012115	HP:0012115	Hepatitis	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0012115	HP:0012115	Hepatitis	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0012115	HP:0012115	Hepatitis	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0012115	HP:0012115	Hepatitis	0	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II		38
HP:0012115	HP:0012115	Hepatitis	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0012115	HP:0012115	Hepatitis	0	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II		26
HP:0012115	HP:0012115	Hepatitis	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0012115	HP:0012115	Hepatitis	0	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II		34
HP:0012115	HP:0012115	Hepatitis	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0012115	HP:0012115	Hepatitis	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0012115	HP:0012115	Hepatitis	0	SERPINA1 CL E G H	5265	8941	ORPHA:60	Alpha-1-antitrypsin deficiency	HP:0040282 - Frequent	131
HP:0012115	HP:0012115	Hepatitis	0	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0012115	HP:0012115	Hepatitis	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent	2
HP:0012115	HP:0012115	Hepatitis	0	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2	.
HP:0012115	HP:0012115	Hepatitis	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent	88
HP:0012115	HP:0012115	Hepatitis	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome		88
HP:0012115	HP:0012115	Hepatitis	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0012115	HP:0012115	Hepatitis	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional	89
HP:0012115	HP:0012115	Hepatitis	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0012115	HP:0012115	Hepatitis	0	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency	HP:0040283 - Occasional	57
HP:0012115	HP:0012115	Hepatitis	0	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	2
HP:0012115	HP:0012115	Hepatitis	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	241
HP:0012115	HP:0012115	Hepatitis	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0012115	HP:0012115	Hepatitis	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional	71
HP:0012115	HP:0012115	Hepatitis	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional
HP:0012115	HP:0012115	Hepatitis	0	TP53 CL E G H	7157	11998	OMIM:114550	Hepatocellular carcinoma		911
HP:0012115	HP:0012115	Hepatitis	0	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome	HP:0040281 - Very frequent
HP:0012115	HP:0012115	Hepatitis	0	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	4
HP:0012115	HP:0012115	Hepatitis	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare	26
HP:0012115	HP:0012115	Hepatitis	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0012115	HP:0012115	Hepatitis	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2		27
HP:0012115	HP:0012115	Hepatitis	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1		63
HP:0012115	HP:0012115	Hepatitis	0	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0012115	HP:0012115	Hepatitis	0	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81
HP:0012115	HP:0200123	Chronic hepatitis	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0012115	HP:0200084	Giant cell hepatitis	1	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0012115	HP:0200123	Chronic hepatitis	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome		404
HP:0012115	HP:0200084	Giant cell hepatitis	1	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4	.	44
HP:0012115	HP:0200084	Giant cell hepatitis	1	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4		44
HP:0012115	HP:0006562	Viral hepatitis	1	APC CL E G H	324	583	OMIM:114550	Hepatocellular carcinoma		3179
HP:0012115	HP:0200122	Atypical or prolonged hepatitis	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.	315
HP:0012115	HP:0200119	Acute hepatitis	1	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent	315
HP:0012115	HP:0006562	Viral hepatitis	1	AXIN1 CL E G H	8312	903	OMIM:114550	Hepatocellular carcinoma		3
HP:0012115	HP:0006562	Viral hepatitis	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0012115	HP:0006562	Viral hepatitis	1	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0012115	HP:0200123	Chronic hepatitis	1	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency		1
HP:0012115	HP:0006562	Viral hepatitis	1	CASP8 CL E G H	841	1509	OMIM:114550	Hepatocellular carcinoma		37
HP:0012115	HP:0200123	Chronic hepatitis	1	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM	.	33
HP:0012115	HP:0006562	Viral hepatitis	1	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II	.	118
HP:0012115	HP:0200123	Chronic hepatitis	1	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0012115	HP:0032220	Interface hepatitis	1	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh		39
HP:0012115	HP:0006562	Viral hepatitis	1	CTNNB1 CL E G H	1499	2514	OMIM:114550	Hepatocellular carcinoma		88
HP:0012115	HP:0200123	Chronic hepatitis	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional	580
HP:0012115	HP:0200084	Giant cell hepatitis	1	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.	26
HP:0012115	HP:0006562	Viral hepatitis	1	IGF2R CL E G H	3482	5467	OMIM:114550	Hepatocellular carcinoma		4
HP:0012115	HP:0006562	Viral hepatitis	1	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0012115	HP:0006562	Viral hepatitis	1	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0012115	HP:0004787	Fulminant hepatitis	1	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0012115	HP:0200123	Chronic hepatitis	1	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0012115	HP:0004787	Fulminant hepatitis	1	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial		19
HP:0012115	HP:0006562	Viral hepatitis	1	MET CL E G H	4233	7029	OMIM:114550	Hepatocellular carcinoma		375
HP:0012115	HP:0006562	Viral hepatitis	1	PDGFRL CL E G H	5157	8805	OMIM:114550	Hepatocellular carcinoma		2
HP:0012115	HP:0200123	Chronic hepatitis	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0012115	HP:0006562	Viral hepatitis	1	PIK3CA CL E G H	5290	8975	OMIM:114550	Hepatocellular carcinoma		162
HP:0012115	HP:0006562	Viral hepatitis	1	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II	.	38
HP:0012115	HP:0200123	Chronic hepatitis	1	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0012115	HP:0006562	Viral hepatitis	1	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II	.	26
HP:0012115	HP:0200123	Chronic hepatitis	1	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0012115	HP:0006562	Viral hepatitis	1	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II	.	34
HP:0012115	HP:0200123	Chronic hepatitis	1	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0012115	HP:0004787	Fulminant hepatitis	1	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0012115	HP:0200123	Chronic hepatitis	1	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0012115	HP:0200119	Acute hepatitis	1	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.	88
HP:0012115	HP:0006562	Viral hepatitis	1	TP53 CL E G H	7157	11998	OMIM:114550	Hepatocellular carcinoma		911
HP:0012115	HP:0032220	Interface hepatitis	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome	HP:0040283 - Occasional	26
HP:0012115	HP:0200084	Giant cell hepatitis	1	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.	27
HP:0012115	HP:0200084	Giant cell hepatitis	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.	63
HP:0012115	HP:0004787	Fulminant hepatitis	1	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0012115	HP:0200120	Chronic active hepatitis	2	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0012115	HP:0200120	Chronic active hepatitis	2	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0012115	HP:0006572	Subacute progressive viral hepatitis	2	APC CL E G H	324	583	OMIM:114550	Hepatocellular carcinoma	.	3179
HP:0012115	HP:0006572	Subacute progressive viral hepatitis	2	AXIN1 CL E G H	8312	903	OMIM:114550	Hepatocellular carcinoma	.	3
HP:0012115	HP:0001412	Enteroviral hepatitis	2	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked	.	109
HP:0012115	HP:0001412	Enteroviral hepatitis	2	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia	.	109
HP:0012115	HP:0200120	Chronic active hepatitis	2	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency	.	1
HP:0012115	HP:0006572	Subacute progressive viral hepatitis	2	CASP8 CL E G H	841	1509	OMIM:114550	Hepatocellular carcinoma	.	37
HP:0012115	HP:0200124	Chronic hepatitis due to cryptosporidium infection	2	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	118
HP:0012115	HP:0006572	Subacute progressive viral hepatitis	2	CTNNB1 CL E G H	1499	2514	OMIM:114550	Hepatocellular carcinoma	.	88
HP:0012115	HP:0006572	Subacute progressive viral hepatitis	2	IGF2R CL E G H	3482	5467	OMIM:114550	Hepatocellular carcinoma	.	4
HP:0012115	HP:0200124	Chronic hepatitis due to cryptosporidium infection	2	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0012115	HP:0006572	Subacute progressive viral hepatitis	2	MET CL E G H	4233	7029	OMIM:114550	Hepatocellular carcinoma	.	375
HP:0012115	HP:0006572	Subacute progressive viral hepatitis	2	PDGFRL CL E G H	5157	8805	OMIM:114550	Hepatocellular carcinoma	.	2
HP:0012115	HP:0006572	Subacute progressive viral hepatitis	2	PIK3CA CL E G H	5290	8975	OMIM:114550	Hepatocellular carcinoma	.	162
HP:0012115	HP:0200124	Chronic hepatitis due to cryptosporidium infection	2	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	38
HP:0012115	HP:0200124	Chronic hepatitis due to cryptosporidium infection	2	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	26
HP:0012115	HP:0200124	Chronic hepatitis due to cryptosporidium infection	2	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	34
HP:0012115	HP:0006572	Subacute progressive viral hepatitis	2	TP53 CL E G H	7157	11998	OMIM:114550	Hepatocellular carcinoma	.	911