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:0002896	HP:0002896	Neoplasm of the liver	0	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2		146
HP:0002896	HP:0002896	Neoplasm of the liver	0	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040283 - Occasional	111
HP:0002896	HP:0002896	Neoplasm of the liver	0	ABCC8 CL E G H	6833	59	ORPHA:552	MODY		245
HP:0002896	HP:0002896	Neoplasm of the liver	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency		31
HP:0002896	HP:0002896	Neoplasm of the liver	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0002896	HP:0002896	Neoplasm of the liver	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion		3179
HP:0002896	HP:0002896	Neoplasm of the liver	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0002896	HP:0002896	Neoplasm of the liver	0	APC CL E G H	324	583	OMIM:114550	Hepatocellular carcinoma		3179
HP:0002896	HP:0002896	Neoplasm of the liver	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis		3179
HP:0002896	HP:0002896	Neoplasm of the liver	0	APPL1 CL E G H	26060	24035	ORPHA:552	MODY		2
HP:0002896	HP:0002896	Neoplasm of the liver	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0002896	HP:0002896	Neoplasm of the liver	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0002896	HP:0002896	Neoplasm of the liver	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0002896	HP:0002896	Neoplasm of the liver	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0002896	HP:0002896	Neoplasm of the liver	0	AXIN1 CL E G H	8312	903	OMIM:114550	Hepatocellular carcinoma		3
HP:0002896	HP:0002896	Neoplasm of the liver	0	BLK CL E G H	640	1057	ORPHA:552	MODY		75
HP:0002896	HP:0002896	Neoplasm of the liver	0	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1		13
HP:0002896	HP:0002896	Neoplasm of the liver	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0002896	HP:0002896	Neoplasm of the liver	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X		385
HP:0002896	HP:0002896	Neoplasm of the liver	0	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	5769
HP:0002896	HP:0002896	Neoplasm of the liver	0	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	7642
HP:0002896	HP:0002896	Neoplasm of the liver	0	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	7642
HP:0002896	HP:0002896	Neoplasm of the liver	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0002896	HP:0002896	Neoplasm of the liver	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0002896	HP:0002896	Neoplasm of the liver	0	CASP8 CL E G H	841	1509	OMIM:114550	Hepatocellular carcinoma		37
HP:0002896	HP:0002896	Neoplasm of the liver	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	247
HP:0002896	HP:0002896	Neoplasm of the liver	0	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome		1
HP:0002896	HP:0002896	Neoplasm of the liver	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0002896	HP:0002896	Neoplasm of the liver	0	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	289
HP:0002896	HP:0002896	Neoplasm of the liver	0	CEL CL E G H	1056	1848	ORPHA:552	MODY		25
HP:0002896	HP:0002896	Neoplasm of the liver	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria		72
HP:0002896	HP:0002896	Neoplasm of the liver	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0002896	HP:0002896	Neoplasm of the liver	0	CTNNB1 CL E G H	1499	2514	OMIM:114550	Hepatocellular carcinoma		88
HP:0002896	HP:0002896	Neoplasm of the liver	0	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	164
HP:0002896	HP:0002896	Neoplasm of the liver	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0002896	HP:0002896	Neoplasm of the liver	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0002896	HP:0002896	Neoplasm of the liver	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease		4
HP:0002896	HP:0002896	Neoplasm of the liver	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0002896	HP:0002896	Neoplasm of the liver	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome		170
HP:0002896	HP:0002896	Neoplasm of the liver	0	F5 CL E G H	2153	3542	OMIM:600880	Budd-Chiari syndrome		159
HP:0002896	HP:0002896	Neoplasm of the liver	0	FAH CL E G H	2184	3579	ORPHA:882	Tyrosinemia type 1		107
HP:0002896	HP:0002896	Neoplasm of the liver	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0002896	HP:0002896	Neoplasm of the liver	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome		15
HP:0002896	HP:0002896	Neoplasm of the liver	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0002896	HP:0002896	Neoplasm of the liver	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0002896	HP:0002896	Neoplasm of the liver	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0002896	HP:0002896	Neoplasm of the liver	0	GCK CL E G H	2645	4195	ORPHA:552	MODY		237
HP:0002896	HP:0002896	Neoplasm of the liver	0	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0002896	HP:0002896	Neoplasm of the liver	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome		101
HP:0002896	HP:0002896	Neoplasm of the liver	0	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	73
HP:0002896	HP:0002896	Neoplasm of the liver	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0002896	HP:0002896	Neoplasm of the liver	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0002896	HP:0002896	Neoplasm of the liver	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0002896	HP:0002896	Neoplasm of the liver	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002896	HP:0002896	Neoplasm of the liver	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0002896	HP:0002896	Neoplasm of the liver	0	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	4
HP:0002896	HP:0002896	Neoplasm of the liver	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0002896	HP:0002896	Neoplasm of the liver	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0002896	HP:0002896	Neoplasm of the liver	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia		580
HP:0002896	HP:0002896	Neoplasm of the liver	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major		580
HP:0002896	HP:0002896	Neoplasm of the liver	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia		580
HP:0002896	HP:0002896	Neoplasm of the liver	0	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1		38
HP:0002896	HP:0002896	Neoplasm of the liver	0	HFE CL E G H	3077	4886	OMIM:176100	Porphyria cutanea tarda		38
HP:0002896	HP:0002896	Neoplasm of the liver	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1		38
HP:0002896	HP:0002896	Neoplasm of the liver	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria		81
HP:0002896	HP:0002896	Neoplasm of the liver	0	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent		81
HP:0002896	HP:0002896	Neoplasm of the liver	0	HNF1A CL E G H	6927	11621	OMIM:142330	Hepatic adenomas, familial		161
HP:0002896	HP:0002896	Neoplasm of the liver	0	HNF1A CL E G H	6927	11621	ORPHA:552	MODY		161
HP:0002896	HP:0002896	Neoplasm of the liver	0	HNF4A CL E G H	3172	5024	ORPHA:552	MODY		138
HP:0002896	HP:0002896	Neoplasm of the liver	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0002896	HP:0002896	Neoplasm of the liver	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome		9
HP:0002896	HP:0002896	Neoplasm of the liver	0	IGF2R CL E G H	3482	5467	OMIM:114550	Hepatocellular carcinoma		4
HP:0002896	HP:0002896	Neoplasm of the liver	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0002896	HP:0002896	Neoplasm of the liver	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis		46
HP:0002896	HP:0002896	Neoplasm of the liver	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	111
HP:0002896	HP:0002896	Neoplasm of the liver	0	INS CL E G H	3630	6081	ORPHA:552	MODY		62
HP:0002896	HP:0002896	Neoplasm of the liver	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis		4
HP:0002896	HP:0002896	Neoplasm of the liver	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0002896	HP:0002896	Neoplasm of the liver	0	JAK2 CL E G H	3717	6192	OMIM:600880	Budd-Chiari syndrome		57
HP:0002896	HP:0002896	Neoplasm of the liver	0	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY		127
HP:0002896	HP:0002896	Neoplasm of the liver	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0002896	HP:0002896	Neoplasm of the liver	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0002896	HP:0002896	Neoplasm of the liver	0	KLF11 CL E G H	8462	11811	ORPHA:552	MODY		78
HP:0002896	HP:0002896	Neoplasm of the liver	0	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	196
HP:0002896	HP:0002896	Neoplasm of the liver	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome		196
HP:0002896	HP:0002896	Neoplasm of the liver	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0002896	HP:0002896	Neoplasm of the liver	0	MET CL E G H	4233	7029	OMIM:114550	Hepatocellular carcinoma		375
HP:0002896	HP:0002896	Neoplasm of the liver	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome		1819
HP:0002896	HP:0002896	Neoplasm of the liver	0	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome	HP:0040283 - Occasional	1819
HP:0002896	HP:0002896	Neoplasm of the liver	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome		131
HP:0002896	HP:0002896	Neoplasm of the liver	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0002896	HP:0002896	Neoplasm of the liver	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0002896	HP:0002896	Neoplasm of the liver	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome		2162
HP:0002896	HP:0002896	Neoplasm of the liver	0	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome	HP:0040283 - Occasional	2162
HP:0002896	HP:0002896	Neoplasm of the liver	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome		2232
HP:0002896	HP:0002896	Neoplasm of the liver	0	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome	HP:0040283 - Occasional	2232
HP:0002896	HP:0002896	Neoplasm of the liver	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0002896	HP:0002896	Neoplasm of the liver	0	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare
HP:0002896	HP:0002896	Neoplasm of the liver	0	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY		32
HP:0002896	HP:0002896	Neoplasm of the liver	0	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	1349
HP:0002896	HP:0002896	Neoplasm of the liver	0	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	192
HP:0002896	HP:0002896	Neoplasm of the liver	0	PAX4 CL E G H	5078	8618	ORPHA:552	MODY		55
HP:0002896	HP:0002896	Neoplasm of the liver	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0002896	HP:0002896	Neoplasm of the liver	0	PDGFRL CL E G H	5157	8805	OMIM:114550	Hepatocellular carcinoma		2
HP:0002896	HP:0002896	Neoplasm of the liver	0	PDX1 CL E G H	3651	6107	ORPHA:552	MODY		30
HP:0002896	HP:0002896	Neoplasm of the liver	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency		54
HP:0002896	HP:0002896	Neoplasm of the liver	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0002896	HP:0002896	Neoplasm of the liver	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency		48
HP:0002896	HP:0002896	Neoplasm of the liver	0	PIK3CA CL E G H	5290	8975	OMIM:114550	Hepatocellular carcinoma		162
HP:0002896	HP:0002896	Neoplasm of the liver	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome		162
HP:0002896	HP:0002896	Neoplasm of the liver	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease		563
HP:0002896	HP:0002896	Neoplasm of the liver	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome		56
HP:0002896	HP:0002896	Neoplasm of the liver	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome		1121
HP:0002896	HP:0002896	Neoplasm of the liver	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0002896	HP:0002896	Neoplasm of the liver	0	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	2
HP:0002896	HP:0002896	Neoplasm of the liver	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata		41
HP:0002896	HP:0002896	Neoplasm of the liver	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0002896	HP:0002896	Neoplasm of the liver	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0002896	HP:0002896	Neoplasm of the liver	0	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency		71
HP:0002896	HP:0002896	Neoplasm of the liver	0	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional
HP:0002896	HP:0002896	Neoplasm of the liver	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0002896	HP:0002896	Neoplasm of the liver	0	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma	HP:0040284 - Very rare	1
HP:0002896	HP:0002896	Neoplasm of the liver	0	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	7
HP:0002896	HP:0002896	Neoplasm of the liver	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	167
HP:0002896	HP:0002896	Neoplasm of the liver	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X		1
HP:0002896	HP:0002896	Neoplasm of the liver	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0002896	HP:0002896	Neoplasm of the liver	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X		48
HP:0002896	HP:0002896	Neoplasm of the liver	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0002896	HP:0002896	Neoplasm of the liver	0	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency		131
HP:0002896	HP:0002896	Neoplasm of the liver	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0002896	HP:0002896	Neoplasm of the liver	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0002896	HP:0002896	Neoplasm of the liver	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0002896	HP:0002896	Neoplasm of the liver	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0002896	HP:0002896	Neoplasm of the liver	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II		82
HP:0002896	HP:0002896	Neoplasm of the liver	0	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset		82
HP:0002896	HP:0002896	Neoplasm of the liver	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome		71
HP:0002896	HP:0002896	Neoplasm of the liver	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0002896	HP:0002896	Neoplasm of the liver	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib		110
HP:0002896	HP:0002896	Neoplasm of the liver	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0002896	HP:0002896	Neoplasm of the liver	0	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	504
HP:0002896	HP:0002896	Neoplasm of the liver	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0002896	HP:0002896	Neoplasm of the liver	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0002896	HP:0002896	Neoplasm of the liver	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0002896	HP:0002896	Neoplasm of the liver	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0002896	HP:0002896	Neoplasm of the liver	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0002896	HP:0002896	Neoplasm of the liver	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040284 - Very rare	164
HP:0002896	HP:0002896	Neoplasm of the liver	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0002896	HP:0002896	Neoplasm of the liver	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0002896	HP:0002896	Neoplasm of the liver	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0002896	HP:0002896	Neoplasm of the liver	0	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome		3
HP:0002896	HP:0002896	Neoplasm of the liver	0	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare	1
HP:0002896	HP:0002896	Neoplasm of the liver	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0002896	HP:0002896	Neoplasm of the liver	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome		253
HP:0002896	HP:0002896	Neoplasm of the liver	0	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4		149
HP:0002896	HP:0002896	Neoplasm of the liver	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	166
HP:0002896	HP:0002896	Neoplasm of the liver	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0002896	HP:0002896	Neoplasm of the liver	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis		71
HP:0002896	HP:0002896	Neoplasm of the liver	0	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	911
HP:0002896	HP:0002896	Neoplasm of the liver	0	TP53 CL E G H	7157	11998	OMIM:114550	Hepatocellular carcinoma		911
HP:0002896	HP:0002896	Neoplasm of the liver	0	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	2
HP:0002896	HP:0002896	Neoplasm of the liver	0	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	2
HP:0002896	HP:0002896	Neoplasm of the liver	0	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0002896	HP:0002896	Neoplasm of the liver	0	UROD CL E G H	7389	12591	OMIM:176100	Porphyria cutanea tarda		31
HP:0002896	HP:0002896	Neoplasm of the liver	0	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome		490
HP:0002896	HP:0002896	Neoplasm of the liver	0	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	177
HP:0002896	HP:0002896	Neoplasm of the liver	0	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma	HP:0040284 - Very rare
HP:0002896	HP:0034498	Hepatic focal nodular hyperplasia	1	CL E G H
HP:0002896	HP:0034514	Liver hamartoma	1	CL E G H
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2	.	146
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040283 - Occasional	111
HP:0002896	HP:0012028	Hepatocellular adenoma	1	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040284 - Very rare	245
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040283 - Occasional	31
HP:0002896	HP:0002884	Hepatoblastoma	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0002896	HP:0002884	Hepatoblastoma	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040284 - Very rare	3179
HP:0002896	HP:0002884	Hepatoblastoma	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040284 - Very rare	3179
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	APC CL E G H	324	583	OMIM:114550	Hepatocellular carcinoma	.	3179
HP:0002896	HP:0002884	Hepatoblastoma	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare	3179
HP:0002896	HP:0012028	Hepatocellular adenoma	1	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040284 - Very rare	2
HP:0002896	HP:0002884	Hepatoblastoma	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	88
HP:0002896	HP:0002884	Hepatoblastoma	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	219
HP:0002896	HP:0002884	Hepatoblastoma	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	25
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	HP:0040283 - Occasional	315
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	AXIN1 CL E G H	8312	903	OMIM:114550	Hepatocellular carcinoma	.	3
HP:0002896	HP:0012028	Hepatocellular adenoma	1	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040284 - Very rare	75
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.	13
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	385
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	87
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	CASP8 CL E G H	841	1509	OMIM:114550	Hepatocellular carcinoma	.	37
HP:0002896	HP:0031207	Hepatic hemangioma	1	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome		1
HP:0002896	HP:0002884	Hepatoblastoma	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0002896	HP:0012028	Hepatocellular adenoma	1	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040284 - Very rare	25
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040283 - Occasional	72
HP:0002896	HP:0031207	Hepatic hemangioma	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	CTNNB1 CL E G H	1499	2514	OMIM:114550	Hepatocellular carcinoma	.	88
HP:0002896	HP:0002884	Hepatoblastoma	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0002896	HP:0002884	Hepatoblastoma	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare
HP:0002896	HP:0002884	Hepatoblastoma	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	4
HP:0002896	HP:0031207	Hepatic hemangioma	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	170
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	F5 CL E G H	2153	3542	OMIM:600880	Budd-Chiari syndrome	.	159
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	FAH CL E G H	2184	3579	ORPHA:882	Tyrosinemia type 1	HP:0040283 - Occasional	107
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.	107
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	15
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	59
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	37
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0002896	HP:0012028	Hepatocellular adenoma	1	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040284 - Very rare	237
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0002896	HP:0012028	Hepatocellular adenoma	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040283 - Occasional	101
HP:0002896	HP:0002884	Hepatoblastoma	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional	73
HP:0002896	HP:0002884	Hepatoblastoma	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0002896	HP:0002884	Hepatoblastoma	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0002896	HP:0002884	Hepatoblastoma	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	2
HP:0002896	HP:0002884	Hepatoblastoma	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040284 - Very rare	580
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040284 - Very rare	580
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040284 - Very rare	580
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.	38
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	HFE CL E G H	3077	4886	OMIM:176100	Porphyria cutanea tarda	.	38
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional	38
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional	81
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent	.	81
HP:0002896	HP:0012028	Hepatocellular adenoma	1	HNF1A CL E G H	6927	11621	OMIM:142330	Hepatic adenomas, familial	.	161
HP:0002896	HP:0012028	Hepatocellular adenoma	1	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040284 - Very rare	161
HP:0002896	HP:0012028	Hepatocellular adenoma	1	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040284 - Very rare	138
HP:0002896	HP:0002884	Hepatoblastoma	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	IGF2R CL E G H	3482	5467	OMIM:114550	Hepatocellular carcinoma	.	4
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	46
HP:0002896	HP:0012028	Hepatocellular adenoma	1	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040284 - Very rare	62
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	4
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	JAK2 CL E G H	3717	6192	OMIM:600880	Budd-Chiari syndrome	.	57
HP:0002896	HP:0012028	Hepatocellular adenoma	1	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040284 - Very rare	127
HP:0002896	HP:0002884	Hepatoblastoma	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0002896	HP:0002884	Hepatoblastoma	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0002896	HP:0012028	Hepatocellular adenoma	1	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040284 - Very rare	78
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	196
HP:0002896	HP:0002884	Hepatoblastoma	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	MET CL E G H	4233	7029	OMIM:114550	Hepatocellular carcinoma	.	375
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	1819
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	131
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	2162
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	2232
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	1
HP:0002896	HP:0012028	Hepatocellular adenoma	1	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040284 - Very rare	32
HP:0002896	HP:0012028	Hepatocellular adenoma	1	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040284 - Very rare	55
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	PDGFRL CL E G H	5157	8805	OMIM:114550	Hepatocellular carcinoma	.	2
HP:0002896	HP:0012028	Hepatocellular adenoma	1	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040284 - Very rare	30
HP:0002896	HP:0012028	Hepatocellular adenoma	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare	54
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0002896	HP:0012028	Hepatocellular adenoma	1	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0002896	HP:0012028	Hepatocellular adenoma	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare	48
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	PIK3CA CL E G H	5290	8975	OMIM:114550	Hepatocellular carcinoma	.	162
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	162
HP:0002896	HP:0002884	Hepatoblastoma	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	563
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	56
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	1121
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040284 - Very rare	41
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	10
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040284 - Very rare	71
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	1
HP:0002896	HP:0002884	Hepatoblastoma	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	48
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency	.	131
HP:0002896	HP:0002884	Hepatoblastoma	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0002896	HP:0002884	Hepatoblastoma	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0002896	HP:0002884	Hepatoblastoma	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0002896	HP:0002884	Hepatoblastoma	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040283 - Occasional	82
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset	.	82
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040284 - Very rare	71
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040284 - Very rare	110
HP:0002896	HP:0012028	Hepatocellular adenoma	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional	110
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.	110
HP:0002896	HP:0002884	Hepatoblastoma	1	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.	110
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.	110
HP:0002896	HP:0002884	Hepatoblastoma	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	617
HP:0002896	HP:0002884	Hepatoblastoma	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	87
HP:0002896	HP:0002884	Hepatoblastoma	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	1
HP:0002896	HP:0002884	Hepatoblastoma	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare
HP:0002896	HP:0002884	Hepatoblastoma	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	47
HP:0002896	HP:0002884	Hepatoblastoma	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	14
HP:0002896	HP:0002884	Hepatoblastoma	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome	.	3
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	241
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	253
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4		149
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	71
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	TP53 CL E G H	7157	11998	OMIM:114550	Hepatocellular carcinoma	.	911
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0002896	HP:0001402	Hepatocellular carcinoma	1	UROD CL E G H	7389	12591	OMIM:176100	Porphyria cutanea tarda	.	31
HP:0002896	HP:0031207	Hepatic hemangioma	1	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome		490