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:0002910	HP:0002910	Elevated hepatic transaminase	0	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040282 - Frequent	146
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3		111
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3	.	111
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1	.	111
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040282 - Frequent	111
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040282 - Frequent	111
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent	90
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent	98
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency	.	98
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of	.	197
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	197
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	200
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.	120
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia	HP:0040283 - Occasional	68
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	116
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	.	26
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III	.	216
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.	85
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040281 - Very frequent	31
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2	.	62
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2	HP:0040281 - Very frequent	62
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ALAS2 CL E G H	212	397	OMIM:300752	Protoporphyria, erythropoietic, X-linked	HP:0040283 - Occasional	72
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ALAS2 CL E G H	212	397	ORPHA:75563	X-linked sideroblastic anemia	HP:0040283 - Occasional	72
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.	73
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040283 - Occasional	41
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic		66
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040282 - Frequent	46
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent	404
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4	.	44
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4		44
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1		356
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease		39
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040284 - Very rare	78
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria		81
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040281 - Very frequent	3267
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent	315
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1	.	144
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040282 - Frequent	144
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040283 - Occasional	169
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1		63
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	BCAT2 CL E G H	587	977	OMIM:618850	HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.	72
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.	13
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	5769
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	7642
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	HP:0040284 - Very rare
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome	HP:0040282 - Frequent	1
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.	48
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040283 - Occasional	242
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2		247
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	247
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO		3
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	38
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040280 - Obligate	39
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	1
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	289
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040280 - Obligate	86
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040280 - Obligate	57
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040283 - Occasional	38
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	COG2 CL E G H	22796	6546	OMIM:617395	Congenital disorder of glycosylation, type IIq	.	2
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent	67
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj	.	67
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional	79
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG		64
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.	64
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG	HP:0040283 - Occasional	39
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh		39
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional	5
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency	HP:0040281 - Very frequent	99
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency	.	99
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040283 - Occasional	101
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile		101
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	10
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6	.	12
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3	.	57
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3	HP:0040281 - Very frequent	57
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040283 - Occasional
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome		8
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG	HP:0040281 - Very frequent	62
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.	57
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DGUOK CL E G H	1716	2858	OMIM:617068	Portal hypertension, noncirrhotic	.	57
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59	.	47
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency	HP:0040283 - Occasional	89
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040282 - Frequent	89
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DMD CL E G H	1756	2928	ORPHA:98895	Becker muscular dystrophy	HP:0040282 - Frequent	1496
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040282 - Frequent	25
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare	5
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.	5
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG	HP:0040283 - Occasional	55
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	HP:0040283 - Occasional	38
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040282 - Frequent	38
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE		27
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040282 - Frequent	27
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu		26
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040283 - Occasional	26
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG	HP:0040282 - Frequent	9
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15		9
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare	1
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040282 - Frequent	65
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent	158
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.	158
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent	199
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	199
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent	55
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	55
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome	HP:0040282 - Frequent	159
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS		3
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.	107
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	FAN1 CL E G H	22909	29170	OMIM:614817	Interstitial nephritis, karyomegalic	HP:0040283 - Occasional	15
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional	64
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	HP:0040283 - Occasional	384
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional	11
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional	32
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset		407
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent	351
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA		351
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	GDF2 CL E G H	2658	4217	OMIM:615506	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT5		8
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory		17
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent	173
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	GNMT CL E G H	27232	4415	OMIM:606664	GLYCINE N-METHYLTRANSFERASE DEFICIENCY	.	3
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile	.	3
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	2
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency	HP:0040283 - Occasional	100
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent	41
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency	.	99
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency	.	60
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2	HP:0040282 - Frequent	15
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B	.	15
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040280 - Obligate
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.	38
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2	HP:0040282 - Frequent
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	4
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040282 - Frequent	35
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D		3
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional	90
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional	90
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young		138
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent	138
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.	26
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1	HP:0040281 - Very frequent	26
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040281 - Very frequent
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy	HP:0040283 - Occasional
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	32
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	HP:0040283 - Occasional	6
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	28
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	8
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	111
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	4
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome	HP:0040282 - Frequent	57
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040283 - Occasional	1
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	196
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1	.
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome	.	70
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	HP:0040283 - Occasional	35
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	1
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency	.	21
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional	239
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease	.
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MLIP CL E G H	90523	21355	OMIM:620138
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB		37
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE	.	56
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.	56
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16	.	13
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2	.	60
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	1
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	1
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional	81
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease	HP:0040282 - Frequent	297
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2		25
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	7
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	11
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent	32
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	NOS3 CL E G H	4846	7876	OMIM:189800	Preeclampsia/eclampsia 1	.	8
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040282 - Frequent	14
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10		2
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.	23
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2		88
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional	201
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	1349
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	192
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic		53
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)	.	66
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)		59
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.	62
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040281 - Very frequent	54
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa	.	54
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040281 - Very frequent	48
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc		48
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease		563
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	.	65
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040282 - Frequent	65
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.	731
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	464
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.	464
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	464
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	45
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)	.	45
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	HP:0040283 - Occasional	45
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040283 - Occasional	41
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	58
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	10
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040282 - Frequent	71
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI		71
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040283 - Occasional
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional	127
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional	50
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency	HP:0040283 - Occasional	10
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3		99
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	33
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4		33
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	34
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	60
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3		60
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23		1
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	167
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	125
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	125
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	55
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease	HP:0040281 - Very frequent	8
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare	26
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.	26
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome	HP:0040283 - Occasional	129
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SEMA7A CL E G H	8482	10741	OMIM:619874			5
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency	.	131
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.	207
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC22A5 CL E G H	6584	10969	ORPHA:158	Systemic primary carnitine deficiency	HP:0040281 - Very frequent	207
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent	82
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset	.	82
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040282 - Frequent	82
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent	88
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency	.	40
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040281 - Very frequent	40
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	68
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome		71
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040282 - Frequent	42
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1		42
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040282 - Frequent	27
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.	110
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	504
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A		164
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040283 - Occasional	49
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ	.	80
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG	HP:0040283 - Occasional	80
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts	HP:0040282 - Frequent	1
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional	2
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	85
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	70
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040282 - Frequent	60
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040282 - Frequent	12
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	241
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	.	1
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3		67
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	.	24
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TMEM199 CL E G H	147007	18085	OMIM:616829	Congenital disorder of glycosylation, type IIP		4
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1		166
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	166
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome		166
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	32
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	12
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	1
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	911
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	HP:0040283 - Occasional	27
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18	HP:0040282 - Frequent	27
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	56
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.	56
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30	.	3
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient	.	101
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	113
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	HP:0040283 - Occasional	113
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	138
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	116
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5	.	17
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2	HP:0040283 - Occasional	2
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.	27
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	VPS33B CL E G H	26276	12712	OMIM:620010			63
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.	63
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome		310
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome		8
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	HP:0040283 - Occasional	45
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3	.	111
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency		26
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic	.	66
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1		356
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1		356
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease		39
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease		39
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.	81
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1	.	144
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1		63
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1		63
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	BCAT2 CL E G H	587	977	OMIM:618850	HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh	.	39
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh		39
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3		57
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3		57
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3		57
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3		57
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS		3
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040281 - Very frequent	407
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA		351
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA		351
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency		99
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency		60
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D		3
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D		3
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB		37
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16		13
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16		13
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10	.	2
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10	.	2
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2		88
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2		88
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic		53
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)	.	59
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040283 - Occasional	563
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	SEMA7A CL E G H	8482	10741	OMIM:619874			5
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	SEMA7A CL E G H	8482	10741	OMIM:619874			5
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset		82
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040283 - Occasional	71
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040283 - Occasional	71
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A		164
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A		164
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK		24
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK		24
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040284 - Very rare	130
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040284 - Very rare	130
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	VPS33B CL E G H	26276	12712	OMIM:620010			63
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	VPS33B CL E G H	26276	12712	OMIM:620010			63
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome		310
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome		310
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome		8
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome		8