Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of digestive system physiology (HP:0025032)

Parent Node:
Abnormality of hepatobiliary system physiology (HP:0025155)

..Starting node
..Decreased liver function (HP:0001410)

Term ID:

1410

Name:

Decreased liver function

Synonym:

Decreased liver function; Hepatopathy; Liver dysfunction; Liver dysfunction, mild

Definition:

Reduced ability of the liver to perform its functions.

Comments:

Reference:

HP:0001410

Genes and Diseases:

Child Nodes:

........

Hepatic failure (HP:0001399)

................... HP:0006554 Acute hepatic failure
................... HP:0006583 Fatal liver failure in infancy
................... HP:0100626 Chronic hepatic failure

Sister Nodes:

Decreased mitochondrial complex III activity in liver tissue (HP:0006558)

Reye syndrome-like episodes (HP:0006582)

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:0001410	HP:0001410	Decreased liver function	0	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0001410	HP:0001410	Decreased liver function	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0001410	HP:0001410	Decreased liver function	0	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency		98
HP:0001410	HP:0001410	Decreased liver function	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	197
HP:0001410	HP:0001410	Decreased liver function	0	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5		23
HP:0001410	HP:0001410	Decreased liver function	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia		178
HP:0001410	HP:0001410	Decreased liver function	0	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2		62
HP:0001410	HP:0001410	Decreased liver function	0	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0001410	HP:0001410	Decreased liver function	0	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance		73
HP:0001410	HP:0001410	Decreased liver function	0	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG	HP:0040283 - Occasional	58
HP:0001410	HP:0001410	Decreased liver function	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040282 - Frequent	37
HP:0001410	HP:0001410	Decreased liver function	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.	46
HP:0001410	HP:0001410	Decreased liver function	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0001410	HP:0001410	Decreased liver function	0	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4		44
HP:0001410	HP:0001410	Decreased liver function	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease		78
HP:0001410	HP:0001410	Decreased liver function	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	145
HP:0001410	HP:0001410	Decreased liver function	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001410	HP:0001410	Decreased liver function	0	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0001410	HP:0001410	Decreased liver function	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease		315
HP:0001410	HP:0001410	Decreased liver function	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0001410	HP:0001410	Decreased liver function	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach		169
HP:0001410	HP:0001410	Decreased liver function	0	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1		63
HP:0001410	HP:0001410	Decreased liver function	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.	72
HP:0001410	HP:0001410	Decreased liver function	0	BLVRA CL E G H	644	1062	OMIM:614156	Hyperbiliverdinemia	.	2
HP:0001410	HP:0001410	Decreased liver function	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0001410	HP:0001410	Decreased liver function	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	1
HP:0001410	HP:0001410	Decreased liver function	0	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia		247
HP:0001410	HP:0001410	Decreased liver function	0	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome		1
HP:0001410	HP:0001410	Decreased liver function	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	317
HP:0001410	HP:0001410	Decreased liver function	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect		247
HP:0001410	HP:0001410	Decreased liver function	0	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO		3
HP:0001410	HP:0001410	Decreased liver function	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0001410	HP:0001410	Decreased liver function	0	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15		34
HP:0001410	HP:0001410	Decreased liver function	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0001410	HP:0001410	Decreased liver function	0	COG2 CL E G H	22796	6546	ORPHA:435934	COG2-CDG	HP:0040281 - Very frequent	2
HP:0001410	HP:0001410	Decreased liver function	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG		67
HP:0001410	HP:0001410	Decreased liver function	0	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj		67
HP:0001410	HP:0001410	Decreased liver function	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.	64
HP:0001410	HP:0001410	Decreased liver function	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1		54
HP:0001410	HP:0001410	Decreased liver function	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0001410	HP:0001410	Decreased liver function	0	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency		99
HP:0001410	HP:0001410	Decreased liver function	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0001410	HP:0001410	Decreased liver function	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0001410	HP:0001410	Decreased liver function	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0001410	HP:0001410	Decreased liver function	0	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0001410	HP:0001410	Decreased liver function	0	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3		57
HP:0001410	HP:0001410	Decreased liver function	0	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3		57
HP:0001410	HP:0001410	Decreased liver function	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0001410	HP:0001410	Decreased liver function	0	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal		8
HP:0001410	HP:0001410	Decreased liver function	0	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR	.	62
HP:0001410	HP:0001410	Decreased liver function	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001410	HP:0001410	Decreased liver function	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		57
HP:0001410	HP:0001410	Decreased liver function	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0001410	HP:0001410	Decreased liver function	0	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency	HP:0040283 - Occasional	89
HP:0001410	HP:0001410	Decreased liver function	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency		89
HP:0001410	HP:0001410	Decreased liver function	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0001410	HP:0001410	Decreased liver function	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia		186
HP:0001410	HP:0001410	Decreased liver function	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease		83
HP:0001410	HP:0001410	Decreased liver function	0	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora		83
HP:0001410	HP:0001410	Decreased liver function	0	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency		60
HP:0001410	HP:0001410	Decreased liver function	0	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency		32
HP:0001410	HP:0001410	Decreased liver function	0	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome		159
HP:0001410	HP:0001410	Decreased liver function	0	FADD CL E G H	8772	3573	ORPHA:306550	FADD-related immunodeficiency	HP:0040280 - Obligate	3
HP:0001410	HP:0001410	Decreased liver function	0	FAH CL E G H	2184	3579	ORPHA:882	Tyrosinemia type 1		107
HP:0001410	HP:0001410	Decreased liver function	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0001410	HP:0001410	Decreased liver function	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0001410	HP:0001410	Decreased liver function	0	FECH CL E G H	2235	3647	ORPHA:79278	Autosomal erythropoietic protoporphyria	HP:0040283 - Occasional	145
HP:0001410	HP:0001410	Decreased liver function	0	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1		145
HP:0001410	HP:0001410	Decreased liver function	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency		301
HP:0001410	HP:0001410	Decreased liver function	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0001410	HP:0001410	Decreased liver function	0	GALM CL E G H	130589	24063	ORPHA:570422	Galactose mutarotase deficiency	HP:0040283 - Occasional
HP:0001410	HP:0001410	Decreased liver function	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia		351
HP:0001410	HP:0001410	Decreased liver function	0	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA	.	351
HP:0001410	HP:0001410	Decreased liver function	0	GANAB CL E G H	23193	4138	OMIM:600666	Polycystic kidney disease 3	HP:0040283 - Occasional	6
HP:0001410	HP:0001410	Decreased liver function	0	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0001410	HP:0001410	Decreased liver function	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0001410	HP:0001410	Decreased liver function	0	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV		86
HP:0001410	HP:0001410	Decreased liver function	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia		8
HP:0001410	HP:0001410	Decreased liver function	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0001410	HP:0001410	Decreased liver function	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0001410	HP:0001410	Decreased liver function	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0001410	HP:0001410	Decreased liver function	0	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency		41
HP:0001410	HP:0001410	Decreased liver function	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency		41
HP:0001410	HP:0001410	Decreased liver function	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency		99
HP:0001410	HP:0001410	Decreased liver function	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency		60
HP:0001410	HP:0001410	Decreased liver function	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040283 - Occasional	580
HP:0001410	HP:0001410	Decreased liver function	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1		38
HP:0001410	HP:0001410	Decreased liver function	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis		4
HP:0001410	HP:0001410	Decreased liver function	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome		4
HP:0001410	HP:0001410	Decreased liver function	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis		2
HP:0001410	HP:0001410	Decreased liver function	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	2
HP:0001410	HP:0001410	Decreased liver function	0	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1		26
HP:0001410	HP:0001410	Decreased liver function	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0001410	HP:0001410	Decreased liver function	0	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy	HP:0040283 - Occasional
HP:0001410	HP:0001410	Decreased liver function	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0001410	HP:0001410	Decreased liver function	0	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly		48
HP:0001410	HP:0001410	Decreased liver function	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome		8
HP:0001410	HP:0001410	Decreased liver function	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0001410	HP:0001410	Decreased liver function	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis		46
HP:0001410	HP:0001410	Decreased liver function	0	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0001410	HP:0001410	Decreased liver function	0	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0001410	HP:0001410	Decreased liver function	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect		111
HP:0001410	HP:0001410	Decreased liver function	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis		4
HP:0001410	HP:0001410	Decreased liver function	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0001410	HP:0001410	Decreased liver function	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0001410	HP:0001410	Decreased liver function	0	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome		57
HP:0001410	HP:0001410	Decreased liver function	0	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial		19
HP:0001410	HP:0001410	Decreased liver function	0	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0001410	HP:0001410	Decreased liver function	0	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia	.	54
HP:0001410	HP:0001410	Decreased liver function	0	LIPA CL E G H	3988	6617	ORPHA:75234	Cholesteryl ester storage disease		73
HP:0001410	HP:0001410	Decreased liver function	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0001410	HP:0001410	Decreased liver function	0	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease		73
HP:0001410	HP:0001410	Decreased liver function	0	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency	.	21
HP:0001410	HP:0001410	Decreased liver function	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040282 - Frequent	191
HP:0001410	HP:0001410	Decreased liver function	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent	239
HP:0001410	HP:0001410	Decreased liver function	0	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease	.
HP:0001410	HP:0001410	Decreased liver function	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0001410	HP:0001410	Decreased liver function	0	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever		281
HP:0001410	HP:0001410	Decreased liver function	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001410	HP:0001410	Decreased liver function	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0001410	HP:0001410	Decreased liver function	0	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib		51
HP:0001410	HP:0001410	Decreased liver function	0	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040282 - Frequent	51
HP:0001410	HP:0001410	Decreased liver function	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0001410	HP:0001410	Decreased liver function	0	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0001410	HP:0001410	Decreased liver function	0	MRPS23 CL E G H	51649	14509	OMIM:618952	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
HP:0001410	HP:0001410	Decreased liver function	0	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34		12
HP:0001410	HP:0001410	Decreased liver function	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0001410	HP:0001410	Decreased liver function	0	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2		25
HP:0001410	HP:0001410	Decreased liver function	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001410	HP:0001410	Decreased liver function	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001410	HP:0001410	Decreased liver function	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001410	HP:0001410	Decreased liver function	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001410	HP:0001410	Decreased liver function	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001410	HP:0001410	Decreased liver function	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001410	HP:0001410	Decreased liver function	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	31
HP:0001410	HP:0001410	Decreased liver function	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional
HP:0001410	HP:0001410	Decreased liver function	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	65
HP:0001410	HP:0001410	Decreased liver function	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0001410	HP:0001410	Decreased liver function	0	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease		77
HP:0001410	HP:0001410	Decreased liver function	0	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora		77
HP:0001410	HP:0001410	Decreased liver function	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0001410	HP:0001410	Decreased liver function	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0001410	HP:0001410	Decreased liver function	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1		258
HP:0001410	HP:0001410	Decreased liver function	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0001410	HP:0001410	Decreased liver function	0	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0001410	HP:0001410	Decreased liver function	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.	23
HP:0001410	HP:0001410	Decreased liver function	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0001410	HP:0001410	Decreased liver function	0	OTC CL E G H	5009	8512	ORPHA:664	Ornithine transcarbamylase deficiency		369
HP:0001410	HP:0001410	Decreased liver function	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis		3
HP:0001410	HP:0001410	Decreased liver function	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0001410	HP:0001410	Decreased liver function	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75	HP:0040284 - Very rare	14
HP:0001410	HP:0001410	Decreased liver function	0	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic		53
HP:0001410	HP:0001410	Decreased liver function	0	PCK2 CL E G H	5106	8725	OMIM:261650	Phosphoenolpyruvate carboxykinase 2, mitochondrial		6
HP:0001410	HP:0001410	Decreased liver function	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome		169
HP:0001410	HP:0001410	Decreased liver function	0	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)	.	75
HP:0001410	HP:0001410	Decreased liver function	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B	.	75
HP:0001410	HP:0001410	Decreased liver function	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome		75
HP:0001410	HP:0001410	Decreased liver function	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome		4
HP:0001410	HP:0001410	Decreased liver function	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome		65
HP:0001410	HP:0001410	Decreased liver function	0	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)	.	66
HP:0001410	HP:0001410	Decreased liver function	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome		66
HP:0001410	HP:0001410	Decreased liver function	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome		46
HP:0001410	HP:0001410	Decreased liver function	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B	.	59
HP:0001410	HP:0001410	Decreased liver function	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome		59
HP:0001410	HP:0001410	Decreased liver function	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)		62
HP:0001410	HP:0001410	Decreased liver function	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome		62
HP:0001410	HP:0001410	Decreased liver function	0	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B	.	82
HP:0001410	HP:0001410	Decreased liver function	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome		82
HP:0001410	HP:0001410	Decreased liver function	0	PEX26 CL E G H	55670	22965	OMIM:614873	Peroxisome biogenesis disorder 7B	.	106
HP:0001410	HP:0001410	Decreased liver function	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome		106
HP:0001410	HP:0001410	Decreased liver function	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome		47
HP:0001410	HP:0001410	Decreased liver function	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome		99
HP:0001410	HP:0001410	Decreased liver function	0	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B	.	98
HP:0001410	HP:0001410	Decreased liver function	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome		98
HP:0001410	HP:0001410	Decreased liver function	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0001410	HP:0001410	Decreased liver function	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)		464
HP:0001410	HP:0001410	Decreased liver function	0	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)		45
HP:0001410	HP:0001410	Decreased liver function	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0001410	HP:0001410	Decreased liver function	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0001410	HP:0001410	Decreased liver function	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	58
HP:0001410	HP:0001410	Decreased liver function	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis		3
HP:0001410	HP:0001410	Decreased liver function	0	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0001410	HP:0001410	Decreased liver function	0	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3		99
HP:0001410	HP:0001410	Decreased liver function	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.	26
HP:0001410	HP:0001410	Decreased liver function	0	RNU12 CL E G H	267010	19380	ORPHA:512260	Congenital cerebellar ataxia due to RNU12 mutation	HP:0040283 - Occasional
HP:0001410	HP:0001410	Decreased liver function	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect		167
HP:0001410	HP:0001410	Decreased liver function	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0001410	HP:0001410	Decreased liver function	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	181
HP:0001410	HP:0001410	Decreased liver function	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional	1200
HP:0001410	HP:0001410	Decreased liver function	0	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia		1200
HP:0001410	HP:0001410	Decreased liver function	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis		80
HP:0001410	HP:0001410	Decreased liver function	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	40
HP:0001410	HP:0001410	Decreased liver function	0	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome		5
HP:0001410	HP:0001410	Decreased liver function	0	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21		5
HP:0001410	HP:0001410	Decreased liver function	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0001410	HP:0001410	Decreased liver function	0	SERPINA1 CL E G H	5265	8941	ORPHA:60	Alpha-1-antitrypsin deficiency		131
HP:0001410	HP:0001410	Decreased liver function	0	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0001410	HP:0001410	Decreased liver function	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0001410	HP:0001410	Decreased liver function	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.	88
HP:0001410	HP:0001410	Decreased liver function	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent	88
HP:0001410	HP:0001410	Decreased liver function	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency		40
HP:0001410	HP:0001410	Decreased liver function	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome		71
HP:0001410	HP:0001410	Decreased liver function	0	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1		42
HP:0001410	HP:0001410	Decreased liver function	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0001410	HP:0001410	Decreased liver function	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia		504
HP:0001410	HP:0001410	Decreased liver function	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040282 - Frequent	164
HP:0001410	HP:0001410	Decreased liver function	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0001410	HP:0001410	Decreased liver function	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0001410	HP:0001410	Decreased liver function	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	1
HP:0001410	HP:0001410	Decreased liver function	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	85
HP:0001410	HP:0001410	Decreased liver function	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	70
HP:0001410	HP:0001410	Decreased liver function	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	73
HP:0001410	HP:0001410	Decreased liver function	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.	73
HP:0001410	HP:0001410	Decreased liver function	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.	34
HP:0001410	HP:0001410	Decreased liver function	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0001410	HP:0001410	Decreased liver function	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0001410	HP:0001410	Decreased liver function	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0001410	HP:0001410	Decreased liver function	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	3
HP:0001410	HP:0001410	Decreased liver function	0	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)		1
HP:0001410	HP:0001410	Decreased liver function	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0001410	HP:0001410	Decreased liver function	0	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4		149
HP:0001410	HP:0001410	Decreased liver function	0	TMEM199 CL E G H	147007	18085	OMIM:616829	Congenital disorder of glycosylation, type IIP	.	4
HP:0001410	HP:0001410	Decreased liver function	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect		166
HP:0001410	HP:0001410	Decreased liver function	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0001410	HP:0001410	Decreased liver function	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis		71
HP:0001410	HP:0001410	Decreased liver function	0	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30	.	3
HP:0001410	HP:0001410	Decreased liver function	0	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0001410	HP:0001410	Decreased liver function	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001410	HP:0001410	Decreased liver function	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001410	HP:0001410	Decreased liver function	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0001410	HP:0001410	Decreased liver function	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0001410	HP:0001410	Decreased liver function	0	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy
HP:0001410	HP:0001410	Decreased liver function	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001410	HP:0001410	Decreased liver function	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001410	HP:0001410	Decreased liver function	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0001410	HP:0001410	Decreased liver function	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0001410	HP:0001410	Decreased liver function	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	116
HP:0001410	HP:0001410	Decreased liver function	0	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5	.	17
HP:0001410	HP:0001410	Decreased liver function	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0001410	HP:0001410	Decreased liver function	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0001410	HP:0001410	Decreased liver function	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0001410	HP:0001410	Decreased liver function	0	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0001410	HP:0001410	Decreased liver function	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001410	HP:0001399	Hepatic failure	1	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0001410	HP:0001399	Hepatic failure	1	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0001410	HP:0001399	Hepatic failure	1	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency	.	98
HP:0001410	HP:0001399	Hepatic failure	1	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5		23
HP:0001410	HP:0001399	Hepatic failure	1	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	178
HP:0001410	HP:0001399	Hepatic failure	1	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2	.	62
HP:0001410	HP:0001399	Hepatic failure	1	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0001410	HP:0001399	Hepatic failure	1	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance		73
HP:0001410	HP:0001399	Hepatic failure	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0001410	HP:0001399	Hepatic failure	1	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4	.	44
HP:0001410	HP:0001399	Hepatic failure	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040284 - Very rare	78
HP:0001410	HP:0001399	Hepatic failure	1	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001410	HP:0001399	Hepatic failure	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.	315
HP:0001410	HP:0001399	Hepatic failure	1	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease		315
HP:0001410	HP:0001399	Hepatic failure	1	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare	169
HP:0001410	HP:0001399	Hepatic failure	1	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1		63
HP:0001410	HP:0001399	Hepatic failure	1	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0001410	HP:0001399	Hepatic failure	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0001410	HP:0001399	Hepatic failure	1	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia		247
HP:0001410	HP:0001399	Hepatic failure	1	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome		1
HP:0001410	HP:0001399	Hepatic failure	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect		247
HP:0001410	HP:0001399	Hepatic failure	1	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO		3
HP:0001410	HP:0001399	Hepatic failure	1	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15	HP:0040283 - Occasional	34
HP:0001410	HP:0001399	Hepatic failure	1	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG		67
HP:0001410	HP:0001399	Hepatic failure	1	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj	HP:0040283 - Occasional	67
HP:0001410	HP:0001399	Hepatic failure	1	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.	54
HP:0001410	HP:0001399	Hepatic failure	1	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0001410	HP:0001399	Hepatic failure	1	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency	HP:0040281 - Very frequent	99
HP:0001410	HP:0001399	Hepatic failure	1	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040282 - Frequent	101
HP:0001410	HP:0001399	Hepatic failure	1	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040283 - Occasional	101
HP:0001410	HP:0001399	Hepatic failure	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	160
HP:0001410	HP:0001399	Hepatic failure	1	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0001410	HP:0001399	Hepatic failure	1	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3	.	57
HP:0001410	HP:0001399	Hepatic failure	1	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3	HP:0040281 - Very frequent	57
HP:0001410	HP:0001399	Hepatic failure	1	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare
HP:0001410	HP:0001399	Hepatic failure	1	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal		8
HP:0001410	HP:0001399	Hepatic failure	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001410	HP:0001399	Hepatic failure	1	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.	57
HP:0001410	HP:0001399	Hepatic failure	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	65
HP:0001410	HP:0001399	Hepatic failure	1	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040283 - Occasional	89
HP:0001410	HP:0001399	Hepatic failure	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0001410	HP:0001399	Hepatic failure	1	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	186
HP:0001410	HP:0001399	Hepatic failure	1	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040283 - Occasional	83
HP:0001410	HP:0001399	Hepatic failure	1	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora	.	83
HP:0001410	HP:0001399	Hepatic failure	1	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency	HP:0040284 - Very rare	60
HP:0001410	HP:0001399	Hepatic failure	1	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency	HP:0040284 - Very rare	32
HP:0001410	HP:0001399	Hepatic failure	1	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome		159
HP:0001410	HP:0001399	Hepatic failure	1	FAH CL E G H	2184	3579	ORPHA:882	Tyrosinemia type 1		107
HP:0001410	HP:0001399	Hepatic failure	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0001410	HP:0001399	Hepatic failure	1	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1	.	145
HP:0001410	HP:0001399	Hepatic failure	1	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.	301
HP:0001410	HP:0001399	Hepatic failure	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0001410	HP:0001399	Hepatic failure	1	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent	351
HP:0001410	HP:0001399	Hepatic failure	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0001410	HP:0001399	Hepatic failure	1	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV	.	86
HP:0001410	HP:0001399	Hepatic failure	1	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	8
HP:0001410	HP:0001399	Hepatic failure	1	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0001410	HP:0001399	Hepatic failure	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0001410	HP:0001399	Hepatic failure	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0001410	HP:0001399	Hepatic failure	1	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency		41
HP:0001410	HP:0001399	Hepatic failure	1	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency		41
HP:0001410	HP:0001399	Hepatic failure	1	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency		99
HP:0001410	HP:0001399	Hepatic failure	1	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency		60
HP:0001410	HP:0001399	Hepatic failure	1	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1		38
HP:0001410	HP:0001399	Hepatic failure	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	4
HP:0001410	HP:0001399	Hepatic failure	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome		4
HP:0001410	HP:0001399	Hepatic failure	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	2
HP:0001410	HP:0001399	Hepatic failure	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0001410	HP:0001399	Hepatic failure	1	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.	26
HP:0001410	HP:0001399	Hepatic failure	1	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040283 - Occasional
HP:0001410	HP:0001399	Hepatic failure	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0001410	HP:0001399	Hepatic failure	1	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	.	48
HP:0001410	HP:0001399	Hepatic failure	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome		8
HP:0001410	HP:0001399	Hepatic failure	1	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0001410	HP:0001399	Hepatic failure	1	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	46
HP:0001410	HP:0001399	Hepatic failure	1	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0001410	HP:0001399	Hepatic failure	1	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0001410	HP:0001399	Hepatic failure	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect		111
HP:0001410	HP:0001399	Hepatic failure	1	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	4
HP:0001410	HP:0001399	Hepatic failure	1	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0001410	HP:0001399	Hepatic failure	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0001410	HP:0001399	Hepatic failure	1	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome		57
HP:0001410	HP:0001399	Hepatic failure	1	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial		19
HP:0001410	HP:0001399	Hepatic failure	1	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0001410	HP:0001399	Hepatic failure	1	LIPA CL E G H	3988	6617	ORPHA:75234	Cholesteryl ester storage disease	HP:0040282 - Frequent	73
HP:0001410	HP:0001399	Hepatic failure	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0001410	HP:0001399	Hepatic failure	1	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease	HP:0040281 - Very frequent	73
HP:0001410	HP:0001399	Hepatic failure	1	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0001410	HP:0001399	Hepatic failure	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0001410	HP:0001399	Hepatic failure	1	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever		281
HP:0001410	HP:0001399	Hepatic failure	1	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0001410	HP:0001399	Hepatic failure	1	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib	.	51
HP:0001410	HP:0001399	Hepatic failure	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0001410	HP:0001399	Hepatic failure	1	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0001410	HP:0001399	Hepatic failure	1	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34	.	12
HP:0001410	HP:0001399	Hepatic failure	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0001410	HP:0001399	Hepatic failure	1	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2		25
HP:0001410	HP:0001399	Hepatic failure	1	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001410	HP:0001399	Hepatic failure	1	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001410	HP:0001399	Hepatic failure	1	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001410	HP:0001399	Hepatic failure	1	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001410	HP:0001399	Hepatic failure	1	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001410	HP:0001399	Hepatic failure	1	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001410	HP:0001399	Hepatic failure	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.	27
HP:0001410	HP:0001399	Hepatic failure	1	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040283 - Occasional	77
HP:0001410	HP:0001399	Hepatic failure	1	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora	.	77
HP:0001410	HP:0001399	Hepatic failure	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	27
HP:0001410	HP:0001399	Hepatic failure	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	17
HP:0001410	HP:0001399	Hepatic failure	1	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1		258
HP:0001410	HP:0001399	Hepatic failure	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	12
HP:0001410	HP:0001399	Hepatic failure	1	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0001410	HP:0001399	Hepatic failure	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.	73
HP:0001410	HP:0001399	Hepatic failure	1	OTC CL E G H	5009	8512	ORPHA:664	Ornithine transcarbamylase deficiency	HP:0040281 - Very frequent	369
HP:0001410	HP:0001399	Hepatic failure	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0001410	HP:0001399	Hepatic failure	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	26
HP:0001410	HP:0001399	Hepatic failure	1	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	.	53
HP:0001410	HP:0001399	Hepatic failure	1	PCK2 CL E G H	5106	8725	OMIM:261650	Phosphoenolpyruvate carboxykinase 2, mitochondrial	.	6
HP:0001410	HP:0001399	Hepatic failure	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	169
HP:0001410	HP:0001399	Hepatic failure	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	75
HP:0001410	HP:0001399	Hepatic failure	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	4
HP:0001410	HP:0001399	Hepatic failure	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	65
HP:0001410	HP:0001399	Hepatic failure	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	66
HP:0001410	HP:0001399	Hepatic failure	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	46
HP:0001410	HP:0001399	Hepatic failure	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	59
HP:0001410	HP:0001399	Hepatic failure	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.	62
HP:0001410	HP:0001399	Hepatic failure	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	62
HP:0001410	HP:0001399	Hepatic failure	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	82
HP:0001410	HP:0001399	Hepatic failure	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	106
HP:0001410	HP:0001399	Hepatic failure	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	47
HP:0001410	HP:0001399	Hepatic failure	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	99
HP:0001410	HP:0001399	Hepatic failure	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	98
HP:0001410	HP:0001399	Hepatic failure	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0001410	HP:0001399	Hepatic failure	1	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.	464
HP:0001410	HP:0001399	Hepatic failure	1	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)	.	45
HP:0001410	HP:0001399	Hepatic failure	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0001410	HP:0001399	Hepatic failure	1	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0001410	HP:0001399	Hepatic failure	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0001410	HP:0001399	Hepatic failure	1	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3		99
HP:0001410	HP:0001399	Hepatic failure	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect		167
HP:0001410	HP:0001399	Hepatic failure	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	77
HP:0001410	HP:0001399	Hepatic failure	1	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040284 - Very rare	1200
HP:0001410	HP:0001399	Hepatic failure	1	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia		1200
HP:0001410	HP:0001399	Hepatic failure	1	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent	80
HP:0001410	HP:0001399	Hepatic failure	1	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome		5
HP:0001410	HP:0001399	Hepatic failure	1	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21	.	5
HP:0001410	HP:0001399	Hepatic failure	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0001410	HP:0001399	Hepatic failure	1	SERPINA1 CL E G H	5265	8941	ORPHA:60	Alpha-1-antitrypsin deficiency	HP:0040281 - Very frequent	131
HP:0001410	HP:0001399	Hepatic failure	1	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0001410	HP:0001399	Hepatic failure	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0001410	HP:0001399	Hepatic failure	1	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040284 - Very rare	88
HP:0001410	HP:0001399	Hepatic failure	1	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040283 - Occasional	40
HP:0001410	HP:0001399	Hepatic failure	1	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040283 - Occasional	71
HP:0001410	HP:0001399	Hepatic failure	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0001410	HP:0001399	Hepatic failure	1	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	504
HP:0001410	HP:0001399	Hepatic failure	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040284 - Very rare	164
HP:0001410	HP:0001399	Hepatic failure	1	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0001410	HP:0001399	Hepatic failure	1	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0001410	HP:0001399	Hepatic failure	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0001410	HP:0001399	Hepatic failure	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	48
HP:0001410	HP:0001399	Hepatic failure	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	238
HP:0001410	HP:0001399	Hepatic failure	1	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	.	1
HP:0001410	HP:0001399	Hepatic failure	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	60
HP:0001410	HP:0001399	Hepatic failure	1	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4		149
HP:0001410	HP:0001399	Hepatic failure	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect		166
HP:0001410	HP:0001399	Hepatic failure	1	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0001410	HP:0001399	Hepatic failure	1	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	71
HP:0001410	HP:0001399	Hepatic failure	1	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0001410	HP:0001399	Hepatic failure	1	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001410	HP:0001399	Hepatic failure	1	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001410	HP:0001399	Hepatic failure	1	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy
HP:0001410	HP:0001399	Hepatic failure	1	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001410	HP:0001399	Hepatic failure	1	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001410	HP:0001399	Hepatic failure	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	1
HP:0001410	HP:0001399	Hepatic failure	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	HP:0040283 - Occasional	25
HP:0001410	HP:0001399	Hepatic failure	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	8
HP:0001410	HP:0001399	Hepatic failure	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	40
HP:0001410	HP:0001399	Hepatic failure	1	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0001410	HP:0001399	Hepatic failure	1	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001410	HP:0006554	Acute hepatic failure	2	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040283 - Occasional	98
HP:0001410	HP:0100626	Chronic hepatic failure	2	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040283 - Occasional	73
HP:0001410	HP:0006554	Acute hepatic failure	2	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0001410	HP:0006554	Acute hepatic failure	2	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent	315
HP:0001410	HP:0100626	Chronic hepatic failure	2	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0001410	HP:0006554	Acute hepatic failure	2	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040283 - Occasional	247
HP:0001410	HP:0006554	Acute hepatic failure	2	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	1
HP:0001410	HP:0100626	Chronic hepatic failure	2	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	247
HP:0001410	HP:0006583	Fatal liver failure in infancy	2	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040283 - Occasional	67
HP:0001410	HP:0006554	Acute hepatic failure	2	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6	.	12
HP:0001410	HP:0006554	Acute hepatic failure	2	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040282 - Frequent	65
HP:0001410	HP:0006554	Acute hepatic failure	2	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	159
HP:0001410	HP:0006554	Acute hepatic failure	2	FAH CL E G H	2184	3579	ORPHA:882	Tyrosinemia type 1	HP:0040283 - Occasional	107
HP:0001410	HP:0006554	Acute hepatic failure	2	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.	107
HP:0001410	HP:0006554	Acute hepatic failure	2	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0001410	HP:0100626	Chronic hepatic failure	2	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	2
HP:0001410	HP:0006554	Acute hepatic failure	2	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040284 - Very rare	2
HP:0001410	HP:0006554	Acute hepatic failure	2	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency		41
HP:0001410	HP:0006554	Acute hepatic failure	2	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare	41
HP:0001410	HP:0100626	Chronic hepatic failure	2	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent	99
HP:0001410	HP:0100626	Chronic hepatic failure	2	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent	60
HP:0001410	HP:0100626	Chronic hepatic failure	2	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional	38
HP:0001410	HP:0006554	Acute hepatic failure	2	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	4
HP:0001410	HP:0006554	Acute hepatic failure	2	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	8
HP:0001410	HP:0006554	Acute hepatic failure	2	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0001410	HP:0100626	Chronic hepatic failure	2	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	111
HP:0001410	HP:0006554	Acute hepatic failure	2	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040283 - Occasional	3
HP:0001410	HP:0006554	Acute hepatic failure	2	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	57
HP:0001410	HP:0006554	Acute hepatic failure	2	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial		19
HP:0001410	HP:0006554	Acute hepatic failure	2	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0001410	HP:0006554	Acute hepatic failure	2	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0001410	HP:0006554	Acute hepatic failure	2	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040283 - Occasional	281
HP:0001410	HP:0006554	Acute hepatic failure	2	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.	56
HP:0001410	HP:0100626	Chronic hepatic failure	2	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	1
HP:0001410	HP:0006554	Acute hepatic failure	2	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040284 - Very rare	1
HP:0001410	HP:0006554	Acute hepatic failure	2	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2		25
HP:0001410	HP:0006583	Fatal liver failure in infancy	2	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1	.	258
HP:0001410	HP:0006554	Acute hepatic failure	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional	20
HP:0001410	HP:0006554	Acute hepatic failure	2	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3		99
HP:0001410	HP:0100626	Chronic hepatic failure	2	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	167
HP:0001410	HP:0006554	Acute hepatic failure	2	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040283 - Occasional	1200
HP:0001410	HP:0006554	Acute hepatic failure	2	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	HP:0040282 - Frequent	5
HP:0001410	HP:0100626	Chronic hepatic failure	2	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0001410	HP:0006554	Acute hepatic failure	2	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040284 - Very rare
HP:0001410	HP:0006554	Acute hepatic failure	2	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0001410	HP:0100626	Chronic hepatic failure	2	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040283 - Occasional	49
HP:0001410	HP:0006554	Acute hepatic failure	2	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040284 - Very rare	241
HP:0001410	HP:0100626	Chronic hepatic failure	2	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	241
HP:0001410	HP:0100626	Chronic hepatic failure	2	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	166
HP:0001410	HP:0006554	Acute hepatic failure	2	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient	.	101
HP:0001410	HP:0006583	Fatal liver failure in infancy	2	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy	HP:0040283 - Occasional
HP:0001410	HP:0006554	Acute hepatic failure	2	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0001410	HP:0006554	Acute hepatic failure	2	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001410	HP:0004448	Fulminant hepatic failure	3	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0001410	HP:0004448	Fulminant hepatic failure	3	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency	.	41
HP:0001410	HP:0004448	Fulminant hepatic failure	3	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0001410	HP:0004448	Fulminant hepatic failure	3	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial		19
HP:0001410	HP:0004448	Fulminant hepatic failure	3	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0001410	HP:0004448	Fulminant hepatic failure	3	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0001410	HP:0004787	Fulminant hepatitis	4	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0001410	HP:0004787	Fulminant hepatitis	4	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial		19
HP:0001410	HP:0004787	Fulminant hepatitis	4	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0001410	HP:0004787	Fulminant hepatitis	4	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81

Genes (212) :ABCD3 ACAD9 ACADM ACTG2 ACVRL1 AKR1D1 ALDOB ALG1 ALG3 ALG8 ALMS1 AMACR ASAH1 ASXL1 ATP6 ATP6AP2 ATP7B ATRX BAAT BCS1L BLVRA BMP6 BTNL2 CACNA1S CALR CBL CC2D2A CCDC115 CCDC47 CEP164 COA8 COG2 COG4 COG7 COQ2 COX16 CPT1A CPT2 CTC1 CYC1 CYP7B1 DAXX DCDC2 DDOST DEF6 DGUOK DKC1 DLD EIF2AK3 ENG EPM2A F13A1 F13B F5 FADD FAH FARSB FECH FH FOCAD GALM GALT GANAB GATC GBA1 GBE1 GDF2 GFM1 GPR35 H4C3 HADH HADHA HADHB HBB HFE HLA-B HLA-DRB1 HSD3B7 IARS1 IFT122 IFT172 IKZF1 IL12A IL12RB1 IL18BP IL21R INPP5E IRF5 ITCH JAG1 JAK2 KRT18 LARS1 LARS2 LIPA LIPT1 LRPPRC LYST MARS1 MED12 MEFV MICOS13 MMEL1 MPI MPV17 MRM2 MRPS23 MRPS7 MST1 NBAS ND1 ND2 ND3 ND4 ND5 ND6 NDUFAF3 NDUFB8 NDUFS2 NDUFS4 NHLRC1 NHP2 NOP10 NPC1 NPM1 NR1H4 OCLN OSTM1 OTC P4HA2 PARN PARS2 PCK1 PCK2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIGA POLG POLG2 PORCN POU2AF1 PRF1 PTPN22 QRSL1 RINT1 RMND1 RNU12 RPGRIP1L RTEL1 RUNX1 RYR1 SC5D SCO2 SCYL1 SEMA4D SERPINA1 SH2D1A SKIC3 SLC25A15 SLC25A20 SLC2A2 SLC30A10 SLC7A7 SMAD4 SMPD1 SP110 SPIB SRSF2 STX11 STXBP2 SURF1 TALDO1 TCF4 TERC TERT TET2 TFAM TINF2 TJP2 TMEM199 TMEM67 TNFSF15 TNPO3 TRMT10C TRMU TRNK TRNL1 TRNN TRNS1 TRNT TRNV TRNW TYMS UBR1 UNC13D UQCRC2 USB1 VPS51 WRAP53 XIAP ZNFX1

Diseases (165) :OMIM:616278 ORPHA:99901 OMIM:611126 ORPHA:42 OMIM:619431 ORPHA:774 OMIM:235555 ORPHA:79303 ORPHA:469 ORPHA:79327 ORPHA:79321 OMIM:608104 ORPHA:64 OMIM:214950 ORPHA:333 ORPHA:98850 ORPHA:255210 OMIM:301045 ORPHA:905 OMIM:277900 ORPHA:100075 OMIM:619232 OMIM:124000 OMIM:614156 ORPHA:465508 ORPHA:797 ORPHA:423 ORPHA:131 ORPHA:1454 OMIM:616828 OMIM:618268 OMIM:614845 ORPHA:436271 ORPHA:435934 ORPHA:263501 OMIM:613489 OMIM:608779 OMIM:607426 OMIM:619355 ORPHA:156 ORPHA:228308 ORPHA:228305 ORPHA:1775 OMIM:615453 OMIM:613812 ORPHA:79302 OMIM:617394 OMIM:614507 OMIM:619573 OMIM:251880 OMIM:246900 ORPHA:2394 ORPHA:1667 ORPHA:501 OMIM:254780 ORPHA:331 ORPHA:306550 ORPHA:882 OMIM:276700 OMIM:613658 ORPHA:79278 OMIM:177000 OMIM:606812 OMIM:619991 ORPHA:570422 ORPHA:79239 OMIM:230400 OMIM:600666 OMIM:618839 OMIM:608013 OMIM:232500 OMIM:609060 ORPHA:171 OMIM:619758 OMIM:231530 ORPHA:71212 ORPHA:746 ORPHA:231222 ORPHA:397 ORPHA:36426 OMIM:607765 ORPHA:541423 OMIM:617093 OMIM:218330 OMIM:615630 ORPHA:186 OMIM:618549 OMIM:615207 ORPHA:228426 OMIM:118450 OMIM:215600 OMIM:615438 OMIM:617021 ORPHA:75234 OMIM:278000 ORPHA:75233 OMIM:616299 ORPHA:70472 ORPHA:167 OMIM:615486 OMIM:301068 ORPHA:342 OMIM:618329 OMIM:602579 ORPHA:79319 OMIM:256810 OMIM:618567 OMIM:618952 OMIM:617872 OMIM:616483 ORPHA:70474 OMIM:252010 OMIM:257220 OMIM:617049 OMIM:251290 OMIM:259720 ORPHA:664 OMIM:618437 OMIM:261680 OMIM:261650 ORPHA:912 OMIM:614870 OMIM:614871 OMIM:614883 OMIM:614877 OMIM:614886 OMIM:614867 OMIM:614873 OMIM:614863 OMIM:301072 OMIM:203700 OMIM:618528 ORPHA:2092 ORPHA:540 OMIM:618835 OMIM:618641 OMIM:614922 ORPHA:512260 ORPHA:466650 ORPHA:46059 ORPHA:466794 OMIM:616719 ORPHA:60 OMIM:308240 OMIM:222470 OMIM:238970 ORPHA:415 ORPHA:159 ORPHA:2088 OMIM:613280 ORPHA:470 ORPHA:77293 ORPHA:79124 OMIM:220110 OMIM:606003 OMIM:617156 OMIM:615878 OMIM:616829 OMIM:616974 OMIM:613070 ORPHA:254857 OMIM:243800 OMIM:615160 OMIM:618606 OMIM:619644

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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