Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ABCB4 CL E G H	5244	600803	Cholecystitis	600803	C0008325	OMIM	1	425	45	171060
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ABCB4 CL E G H	5244	600803	Cholecystitis	600803	C0008325	OMIM	1	412	45	171060
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ABCB4 CL E G H	5244	602347	Progressive familial intrahepatic cholestasis 3	602347	C1865643	OMIM	1	425	45	171060
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ABCB4 CL E G H	5244	602347	Progressive familial intrahepatic cholestasis 3	602347	C1865643	OMIM	1	412	45	171060
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ABCD3 CL E G H	5825	616278	Bile acid synthesis defect, congenital, 5	616278	C4225390	OMIM	1	37	67	170995
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ABCD3 CL E G H	5825	616278	Bile acid synthesis defect, congenital, 5	616278	C4225390	OMIM	1	28	67	170995
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ABHD5 CL E G H	51099	98907				ORPHA	1	173	21396	604780
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ABHD5 CL E G H	51099	98907				ORPHA	1	184	21396	604780
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ACAD9 CL E G H	28976	99901				ORPHA	1	427	21497	611103
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ACAD9 CL E G H	28976	99901				ORPHA	1	478	21497	611103
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ACAD9 CL E G H	28976	611126	Acyl-CoA dehydrogenase family, member 9, deficiency of	611126	C1970173	OMIM	1	478	21497	611103
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ACAD9 CL E G H	28976	611126	Acyl-CoA dehydrogenase family, member 9, deficiency of	611126	C1970173	OMIM	1	427	21497	611103
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ACADM CL E G H	34	201450	Medium-chain acyl-coenzyme A dehydrogenase deficiency	201450	C0220710	OMIM	1	491	89	607008
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ACADM CL E G H	34	201450	Medium-chain acyl-coenzyme A dehydrogenase deficiency	201450	C0220710	OMIM	1	559	89	607008
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	435	119	609751
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	388	119	609751
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ADAR CL E G H	103	51				ORPHA	1	654	225	146920
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ADAR CL E G H	103	51				ORPHA	1	471	225	146920
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ADK CL E G H	132	614300	Hypermethioninemia due to adenosine kinase deficiency	614300	C3280381	OMIM	1	79	257	102750
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ADK CL E G H	132	614300	Hypermethioninemia due to adenosine kinase deficiency	614300	C3280381	OMIM	1	73	257	102750
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	1529	321	610860
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	1299	321	610860
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	205	325	603100
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	203	325	603100
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	AGPAT2 CL E G H	10555	608594	Congenital generalized lipodystrophy type 1	608594	C1720862	OMIM	1	203	325	603100
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	AGPAT2 CL E G H	10555	608594	Congenital generalized lipodystrophy type 1	608594	C1720862	OMIM	1	205	325	603100
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	AHCY CL E G H	191	88618				ORPHA	1	113	343	180960
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	AHCY CL E G H	191	88618				ORPHA	1	126	343	180960
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	AKR1D1 CL E G H	6718	79303				ORPHA	1	206	388	604741
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	AKR1D1 CL E G H	6718	79303				ORPHA	1	202	388	604741
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	AKR1D1 CL E G H	6718	235555	Bile acid synthesis defect, congenital, 2	235555	C1856127	OMIM	1	206	388	604741
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	AKR1D1 CL E G H	6718	235555	Bile acid synthesis defect, congenital, 2	235555	C1856127	OMIM	1	202	388	604741
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ALDOB CL E G H	229	229600	Hereditary fructosuria	229600	C0016751	OMIM	1	316	417	612724
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ALDOB CL E G H	229	229600	Hereditary fructosuria	229600	C0016751	OMIM	1	330	417	612724
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	2504	428	606844
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	3342	428	606844
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	AMACR CL E G H	23600	214950	Bile acid synthesis defect, congenital, 4	214950	C1858328	OMIM	1	251	451	604489
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	AMACR CL E G H	23600	214950	Bile acid synthesis defect, congenital, 4	214950	C1858328	OMIM	1	164	451	604489
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ATM CL E G H	472	100				ORPHA	1	11382	795	607585
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ATM CL E G H	472	100				ORPHA	1	10320	795	607585
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ATP6AP1 CL E G H	537	300972	Immunodeficiency 47	300972	C4310819	OMIM	1	291	868	300197
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ATP6AP1 CL E G H	537	300972	Immunodeficiency 47	300972	C4310819	OMIM	1	262	868	300197
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ATP7B CL E G H	540	905				ORPHA	1	1579	870	606882
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ATP7B CL E G H	540	905				ORPHA	1	1389	870	606882
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ATP8B1 CL E G H	5205	147480	Cholestasis of pregnancy	147480	C0268318	OMIM	1	494	3706	602397
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ATP8B1 CL E G H	5205	147480	Cholestasis of pregnancy	147480	C0268318	OMIM	1	496	3706	602397
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	249	1020	603647
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	279	1020	603647
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	373	15832	606158
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	330	15832	606158
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1	373	15832	606158
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1	330	15832	606158
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	C8orf37 CL E G H	157657	617406	Bardet-Biedl syndrome 21	617406	C4319932	OMIM	1		27232	614477
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	85	1527	601047
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	81	1527	601047
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	109	9688	603198
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	110	9688	603198
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	109	9688	603198
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	110	9688	603198
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	881	29253	612013
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1064	29253	612013
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	1	1064	29253	612013
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	1	881	29253	612013
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CD19 CL E G H	930	1572				ORPHA	1	272	1633	107265
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CD19 CL E G H	930	1572				ORPHA	1	223	1633	107265
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CD81 CL E G H	975	1572				ORPHA	1	107	1701	186845
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CD81 CL E G H	975	1572				ORPHA	1	77	1701	186845
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	COG2 CL E G H	22796	617395	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq	617395	C4479353	OMIM	1	159	6546	606974
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	COG2 CL E G H	22796	617395	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq	617395	C4479353	OMIM	1	147	6546	606974
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	COG4 CL E G H	25839	263501				ORPHA	1	247	18620	606976
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	COG4 CL E G H	25839	263501				ORPHA	1	221	18620	606976
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	COG4 CL E G H	25839	613489	Congenital disorder of glycosylation type 2J	613489	C3150736	OMIM	1	247	18620	606976
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	COG4 CL E G H	25839	613489	Congenital disorder of glycosylation type 2J	613489	C3150736	OMIM	1	221	18620	606976
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	254	18622	606978
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	211	18622	606978
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CPT1A CL E G H	1374	156				ORPHA	1	503	2328	600528
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CPT1A CL E G H	1374	156				ORPHA	1	452	2328	600528
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	503	2328	600528
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	452	2328	600528
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CPT2 CL E G H	1376	228308				ORPHA	1	618	2330	600650
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CPT2 CL E G H	1376	228308				ORPHA	1	505	2330	600650
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CPT2 CL E G H	1376	600649	Carnitine palmitoyltransferase II deficiency, infantile	600649	C1833511	OMIM	1	618	2330	600650
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CPT2 CL E G H	1376	600649	Carnitine palmitoyltransferase II deficiency, infantile	600649	C1833511	OMIM	1	505	2330	600650
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	618	2330	600650
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	505	2330	600650
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CR2 CL E G H	1380	1572				ORPHA	1	453	2336	120650
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CR2 CL E G H	1380	1572				ORPHA	1	358	2336	120650
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CYC1 CL E G H	1537	615453	Mitochondrial complex III deficiency, nuclear type 6	615453	C3809553	OMIM	1	94	2579	123980
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CYC1 CL E G H	1537	615453	Mitochondrial complex III deficiency, nuclear type 6	615453	C3809553	OMIM	1	100	2579	123980
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CYP7B1 CL E G H	9420	79302				ORPHA	1	239	2652	603711
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CYP7B1 CL E G H	9420	79302				ORPHA	1	295	2652	603711
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CYP7B1 CL E G H	9420	613812	Bile acid synthesis defect, congenital, 3	613812	C3151147	OMIM	1	239	2652	603711
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CYP7B1 CL E G H	9420	613812	Bile acid synthesis defect, congenital, 3	613812	C3151147	OMIM	1	295	2652	603711
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DCDC2 CL E G H	51473	617394	Sclerosing cholangitis, neonatal	617394	C4479344	OMIM	1	187	18141	605755
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DCDC2 CL E G H	51473	617394	Sclerosing cholangitis, neonatal	617394	C4479344	OMIM	1	172	18141	605755
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DDOST CL E G H	1650	300536				ORPHA	1	179	2728	602202
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DDOST CL E G H	1650	300536				ORPHA	1	154	2728	602202
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	156	2858	601465
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	140	2858	601465
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DHDDS CL E G H	79947	613861	Retinitis pigmentosa 59	613861	C3151227	OMIM	1	256	20603	608172
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DHDDS CL E G H	79947	613861	Retinitis pigmentosa 59	613861	C3151227	OMIM	1	199	20603	608172
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DLD CL E G H	1738	2394	Frontonasal dysplasia Klippel Feil syndrome			ORPHA	1	355	2898	238331
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DLD CL E G H	1738	2394	Frontonasal dysplasia Klippel Feil syndrome			ORPHA	1	329	2898	238331
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DMD CL E G H	1756	98895				ORPHA	1	6395	2928	300377
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DMD CL E G H	1756	98895				ORPHA	1	5601	2928	300377
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DNAJC19 CL E G H	131118	66634				ORPHA	1	95	30528	608977
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DNAJC19 CL E G H	131118	66634				ORPHA	1	78	30528	608977
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DNAJC21 CL E G H	134218	260400	Shwachman syndrome	260400	C0272170	OMIM	1	187	27030	617048
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DNAJC21 CL E G H	134218	260400	Shwachman syndrome	260400	C0272170	OMIM	1	91	27030	617048
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DPM1 CL E G H	8813	608799	Congenital disorder of glycosylation type 1E	608799	C1837396	OMIM	1	156	3005	603503
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DPM1 CL E G H	8813	608799	Congenital disorder of glycosylation type 1E	608799	C1837396	OMIM	1	188	3005	603503
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DPM2 CL E G H	8818	615042	Congenital disorder of glycosylation type 1u	615042	C3554385	OMIM	1	113	3006	603564
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DPM2 CL E G H	8818	615042	Congenital disorder of glycosylation type 1u	615042	C3554385	OMIM	1	123	3006	603564
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DPM3 CL E G H	54344	263494				ORPHA	1	59	3007	605951
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DPM3 CL E G H	54344	263494				ORPHA	1	50	3007	605951
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DPM3 CL E G H	54344	612937	Congenital disorder of glycosylation type 1O	612937	C2752007	OMIM	1	59	3007	605951
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DPM3 CL E G H	54344	612937	Congenital disorder of glycosylation type 1O	612937	C2752007	OMIM	1	50	3007	605951
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	EIF2AK3 CL E G H	9451	1667	Dandy-Walker malformation with facial hemangioma			ORPHA	1	296	3255	604032
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	EIF2AK3 CL E G H	9451	1667	Dandy-Walker malformation with facial hemangioma			ORPHA	1	178	3255	604032
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ERCC4 CL E G H	2072	610965	XFE progeroid syndrome	610965	C1970416	OMIM	1	469	3436	133520
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ERCC4 CL E G H	2072	610965	XFE progeroid syndrome	610965	C1970416	OMIM	1	538	3436	133520
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	F5 CL E G H	2153	131	Myeloid sarcoma			ORPHA	1	453	3542	612309
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	F5 CL E G H	2153	131	Myeloid sarcoma			ORPHA	1	449	3542	612309
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	FAH CL E G H	2184	276700	Tyrosinemia type I	276700	C0268490	OMIM	1	441	3579	613871
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	FAH CL E G H	2184	276700	Tyrosinemia type I	276700	C0268490	OMIM	1	417	3579	613871
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	29	3796	164810
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	G6PC CL E G H	2538	232200	Glycogen storage disease type 1A	232200	C2919796	OMIM	1		4056	613742
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	GLRX5 CL E G H	51218	616860	Sideroblastic anemia 3, pyridoxine-refractory	616860	C4225155	OMIM	1	68	20134	609588
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	GLRX5 CL E G H	51218	616860	Sideroblastic anemia 3, pyridoxine-refractory	616860	C4225155	OMIM	1	60	20134	609588
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	682	23657	603824
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	604	23657	603824
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	GNMT CL E G H	27232	606664	Glycine N-methyltransferase deficiency	606664	C1847720	OMIM	1	60	4415	606628
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	GNMT CL E G H	27232	606664	Glycine N-methyltransferase deficiency	606664	C1847720	OMIM	1	44	4415	606628
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	GPD1 CL E G H	2819	614480	Hypertriglyceridemia, transient infantile	614480	C3280953	OMIM	1	52	4455	138420
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	GPD1 CL E G H	2819	614480	Hypertriglyceridemia, transient infantile	614480	C3280953	OMIM	1	69	4455	138420
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	GPR35 CL E G H	2859	171	Le Marec Bracq Picaud syndrome			ORPHA	1	122	4492	602646
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	GPR35 CL E G H	2859	171	Le Marec Bracq Picaud syndrome			ORPHA	1	115	4492	602646
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HADH CL E G H	3033	71212				ORPHA	1	137	4799	601609
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HADH CL E G H	3033	71212				ORPHA	1	156	4799	601609
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HADHA CL E G H	3030	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	477	4801	600890
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HADHA CL E G H	3030	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	527	4801	600890
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HADHB CL E G H	3032	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	242	4803	143450
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HADHB CL E G H	3032	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	213	4803	143450
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HAMP CL E G H	57817	79230				ORPHA	1	61	15598	606464
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HAMP CL E G H	57817	79230				ORPHA	1	52	15598	606464
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HAMP CL E G H	57817	613313	Hemochromatosis type 2B	613313	C1865616	OMIM	1	61	15598	606464
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HAMP CL E G H	57817	613313	Hemochromatosis type 2B	613313	C1865616	OMIM	1	52	15598	606464
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HFE CL E G H	3077	235200	Hemochromatosis type 1	235200	C3469186	OMIM	1	157	4886	613609
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HFE CL E G H	3077	235200	Hemochromatosis type 1	235200	C3469186	OMIM	1	149	4886	613609
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HJV CL E G H	148738	79230				ORPHA	1	338	4887	608374
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HJV CL E G H	148738	79230				ORPHA	1	369	4887	608374
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HNF1A CL E G H	6927	324575				ORPHA	1	529	11621	142410
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HNF1A CL E G H	6927	324575				ORPHA	1	452	11621	142410
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HNF1B CL E G H	6928	137920	Familial hypoplastic, glomerulocystic kidney	137920	C0431693	OMIM	1	579	11630	189907
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HNF1B CL E G H	6928	137920	Familial hypoplastic, glomerulocystic kidney	137920	C0431693	OMIM	1	545	11630	189907
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HNF4A CL E G H	3172	263455	Hyperinsulinism due to HNF4A deficiency		CN202290	ORPHA	1	403	5024	600281
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HNF4A CL E G H	3172	263455	Hyperinsulinism due to HNF4A deficiency		CN202290	ORPHA	1	363	5024	600281
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HSD17B4 CL E G H	3295	261515	Bifunctional peroxisomal enzyme deficiency	261515	C0342870	OMIM	1	639	5213	601860
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HSD17B4 CL E G H	3295	261515	Bifunctional peroxisomal enzyme deficiency	261515	C0342870	OMIM	1	560	5213	601860
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HSD3B7 CL E G H	80270	79301				ORPHA	1	109	18324	607764
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HSD3B7 CL E G H	80270	79301				ORPHA	1	102	18324	607764
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HSD3B7 CL E G H	80270	607765	Bile acid synthesis defect, congenital, 1	607765	C1843116	OMIM	1	102	18324	607764
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HSD3B7 CL E G H	80270	607765	Bile acid synthesis defect, congenital, 1	607765	C1843116	OMIM	1	109	18324	607764
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ICOS CL E G H	29851	1572				ORPHA	1	154	5351	604558
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ICOS CL E G H	29851	1572				ORPHA	1	137	5351	604558
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	IFIH1 CL E G H	64135	51				ORPHA	1	718	18873	606951
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	IFIH1 CL E G H	64135	51				ORPHA	1	476	18873	606951
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	IFT172 CL E G H	26160	616394	Retinitis pigmentosa 71	616394	C4225342	OMIM	1	805	30391	607386
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	IFT172 CL E G H	26160	616394	Retinitis pigmentosa 71	616394	C4225342	OMIM	1	587	30391	607386
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	INPP5E CL E G H	56623	1454	Common atrioventricular canal		C0221215	ORPHA	1	559	21474	613037
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	INPP5E CL E G H	56623	1454	Common atrioventricular canal		C0221215	ORPHA	1	466	21474	613037
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	JAG1 CL E G H	182	118450	Alagille syndrome 1	118450	C1956125	OMIM	1	1068	6188	601920
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	JAG1 CL E G H	182	118450	Alagille syndrome 1	118450	C1956125	OMIM	1	906	6188	601920
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	JAK2 CL E G H	3717	131	Myeloid sarcoma			ORPHA	1	273	6192	147796
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	JAK2 CL E G H	3717	131	Myeloid sarcoma			ORPHA	1	264	6192	147796
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	LARS CL E G H	51520	615438	Infantile liver failure syndrome 1	615438	C3809522	OMIM	1		6512	151350
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	LBR CL E G H	3930	613471	Reynolds syndrome	613471	C0748397	OMIM	1	225	6518	600024
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	LBR CL E G H	3930	613471	Reynolds syndrome	613471	C0748397	OMIM	1	256	6518	600024
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	LIPT1 CL E G H	51601	616299	Lipoyltransferase 1 deficiency	616299	C4225379	OMIM	1	90	29569	610284
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	LIPT1 CL E G H	51601	616299	Lipoyltransferase 1 deficiency	616299	C4225379	OMIM	1	73	29569	610284
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MARS CL E G H	4141	615486	Interstitial lung and liver disease	615486	C4225400	OMIM	1		6898	156560
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MPV17 CL E G H	4358	256810	Navajo neurohepatopathy	256810	C1850406	OMIM	1	170	7224	137960
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MPV17 CL E G H	4358	256810	Navajo neurohepatopathy	256810	C1850406	OMIM	1	155	7224	137960
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MRPL3 CL E G H	11222	614582	Combined oxidative phosphorylation deficiency 9	614582	C3281234	OMIM	1	74	10379	607118
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MRPL3 CL E G H	11222	614582	Combined oxidative phosphorylation deficiency 9	614582	C3281234	OMIM	1	79	10379	607118
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MRPL44 CL E G H	65080	615395	Combined oxidative phosphorylation deficiency 16	615395	C3809339	OMIM	1	100	16650	611849
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MRPL44 CL E G H	65080	615395	Combined oxidative phosphorylation deficiency 16	615395	C3809339	OMIM	1	80	16650	611849
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MRPS16 CL E G H	51021	610498	Combined oxidative phosphorylation deficiency 2	610498	C1864843	OMIM	1	60	14048	609204
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MRPS16 CL E G H	51021	610498	Combined oxidative phosphorylation deficiency 2	610498	C1864843	OMIM	1	69	14048	609204
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MS4A1 CL E G H	931	1572				ORPHA	1	62	7315	112210
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MS4A1 CL E G H	931	1572				ORPHA	1	28	7315	112210
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MST1 CL E G H	4485	171	Le Marec Bracq Picaud syndrome			ORPHA	1	17	7380	142408
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MST1 CL E G H	4485	171	Le Marec Bracq Picaud syndrome			ORPHA	1	16	7380	142408
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MVK CL E G H	4598	610377	Mevalonic aciduria	610377	C1959626	OMIM	1	401	7530	251170
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MVK CL E G H	4598	610377	Mevalonic aciduria	610377	C1959626	OMIM	1	371	7530	251170
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	NBAS CL E G H	51594	616483	Infantile liver failure syndrome 2	616483	C3809651	OMIM	1	915	15625	608025
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	NBAS CL E G H	51594	616483	Infantile liver failure syndrome 2	616483	C3809651	OMIM	1	367	15625	608025
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	NFKB1 CL E G H	4790	1572				ORPHA	1	266	7794	164011
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	NFKB1 CL E G H	4790	1572				ORPHA	1	171	7794	164011
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	NFKB2 CL E G H	4791	1572				ORPHA	1	317	7795	164012
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	NFKB2 CL E G H	4791	1572				ORPHA	1	248	7795	164012
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	NR1H4 CL E G H	9971	617049	Cholestasis, progressive familial intrahepatic, 5	617049	C4310747	OMIM	1	83	7967	603826
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	NR1H4 CL E G H	9971	617049	Cholestasis, progressive familial intrahepatic, 5	617049	C4310747	OMIM	1	81	7967	603826
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	OCLN CL E G H	100506658	251290	Band-like calcification with simplified gyration and polymicrogyria	251290	C3489725	OMIM	1	96	8104	602876
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	OCLN CL E G H	100506658	251290	Band-like calcification with simplified gyration and polymicrogyria	251290	C3489725	OMIM	1	88	8104	602876
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PEX13 CL E G H	5194	614883	Peroxisome biogenesis disorder 11A	614883	C3554000	OMIM	1	342	8855	601789
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PEX13 CL E G H	5194	614883	Peroxisome biogenesis disorder 11A	614883	C3554000	OMIM	1	234	8855	601789
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	181	9713	600279
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	249	9713	600279
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PGM1 CL E G H	5236	614921	Congenital disorder of glycosylation type 1t	614921	C2752015	OMIM	1	260	8905	171900
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PGM1 CL E G H	5236	614921	Congenital disorder of glycosylation type 1t	614921	C2752015	OMIM	1	232	8905	171900
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	465	8926	300798
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	429	8926	300798
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	148	8931	172471
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	156	8931	172471
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PMM2 CL E G H	5373	212065	Carbohydrate-deficient glycoprotein syndrome type I	212065	C0349653	OMIM	1	491	9115	601785
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PMM2 CL E G H	5373	212065	Carbohydrate-deficient glycoprotein syndrome type I	212065	C0349653	OMIM	1	542	9115	601785
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PNPLA2 CL E G H	57104	98908				ORPHA	1	391	30802	609059
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PNPLA2 CL E G H	57104	98908				ORPHA	1	334	30802	609059
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	391	30802	609059
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	334	30802	609059
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	POLD1 CL E G H	5424	615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	615381	C3715192	OMIM	1	2782	9175	174761
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	POLD1 CL E G H	5424	615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	615381	C3715192	OMIM	1	3124	9175	174761
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1712	9179	174763
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1470	9179	174763
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	POLG CL E G H	5428	203700	Progressive sclerosing poliodystrophy	203700	C0205710	OMIM	1	1712	9179	174763
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	POLG CL E G H	5428	203700	Progressive sclerosing poliodystrophy	203700	C0205710	OMIM	1	1470	9179	174763
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	124	9236	601487
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	108	9236	601487
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PRKCD CL E G H	5580	1572				ORPHA	1	277	9399	176977
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PRKCD CL E G H	5580	1572				ORPHA	1	225	9399	176977
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PSMB4 CL E G H	5692	617591	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3	617591	CN252341	OMIM	1	32	9541	602177
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PSMB4 CL E G H	5692	617591	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3	617591	CN252341	OMIM	1	84	9541	602177
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PSMB8 CL E G H	5696	256040	Nakajo syndrome	256040	C1850568	OMIM	1	136	9545	177046
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PSMB8 CL E G H	5696	256040	Nakajo syndrome	256040	C1850568	OMIM	1	121	9545	177046
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PSMB9 CL E G H	5698	617591	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3	617591	CN252341	OMIM	1	14	9546	177045
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RNASEH2A CL E G H	10535	51				ORPHA	1	259	18518	606034
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RNASEH2A CL E G H	10535	51				ORPHA	1	186	18518	606034
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RNASEH2A CL E G H	10535	610333	Aicardi Goutieres syndrome 4	610333	C1835912	OMIM	1	186	18518	606034
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RNASEH2A CL E G H	10535	610333	Aicardi Goutieres syndrome 4	610333	C1835912	OMIM	1	259	18518	606034
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RNASEH2B CL E G H	79621	51				ORPHA	1	272	25671	610326
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RNASEH2B CL E G H	79621	51				ORPHA	1	197	25671	610326
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RNASEH2C CL E G H	84153	51				ORPHA	1	191	24116	610330
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RNASEH2C CL E G H	84153	51				ORPHA	1	147	24116	610330
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RNASEH2C CL E G H	84153	610329	Aicardi Goutieres syndrome 3	610329	C1835916	OMIM	1	191	24116	610330
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RNASEH2C CL E G H	84153	610329	Aicardi Goutieres syndrome 3	610329	C1835916	OMIM	1	147	24116	610330
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	964	29168	610937
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	794	29168	610937
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RPGRIP1L CL E G H	23322	1454	Common atrioventricular canal		C0221215	ORPHA	1	964	29168	610937
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RPGRIP1L CL E G H	23322	1454	Common atrioventricular canal		C0221215	ORPHA	1	794	29168	610937
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	272	17296	604712
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	261	17296	604712
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SAMHD1 CL E G H	25939	51				ORPHA	1	454	15925	606754
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SAMHD1 CL E G H	25939	51				ORPHA	1	329	15925	606754
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	82	10535	607690
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	58	10535	607690
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SBDS CL E G H	51119	260400	Shwachman syndrome	260400	C0272170	OMIM	1	89	19440	607444
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SBDS CL E G H	51119	260400	Shwachman syndrome	260400	C0272170	OMIM	1	82	19440	607444
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SERPINA1 CL E G H	5265	613490	Alpha-1-antitrypsin deficiency	613490	C0221757	OMIM	1	325	8941	107400
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SERPINA1 CL E G H	5265	613490	Alpha-1-antitrypsin deficiency	613490	C0221757	OMIM	1	333	8941	107400
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC22A5 CL E G H	6584	158				ORPHA	1	733	10969	603377
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC22A5 CL E G H	6584	158				ORPHA	1	626	10969	603377
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC22A5 CL E G H	6584	212140	Renal carnitine transport defect	212140	C0342788	OMIM	1	626	10969	603377
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC22A5 CL E G H	6584	212140	Renal carnitine transport defect	212140	C0342788	OMIM	1	733	10969	603377
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC25A13 CL E G H	10165	603471	Citrullinemia type II	603471	C1863844	OMIM	1	451	10983	603859
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC25A13 CL E G H	10165	603471	Citrullinemia type II	603471	C1863844	OMIM	1	393	10983	603859
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC25A20 CL E G H	788	159				ORPHA	1	134	1421	613698
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC25A20 CL E G H	788	159				ORPHA	1	118	1421	613698
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC25A20 CL E G H	788	212138	Carnitine acylcarnitine translocase deficiency	212138	C0342791	OMIM	1	134	1421	613698
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC25A20 CL E G H	788	212138	Carnitine acylcarnitine translocase deficiency	212138	C0342791	OMIM	1	118	1421	613698
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC30A10 CL E G H	55532	309854				ORPHA	1	167	25355	611146
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC30A10 CL E G H	55532	309854				ORPHA	1	139	25355	611146
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC30A10 CL E G H	55532	613280	Hypermanganesemia with dystonia 1	613280		OMIM	1	139	25355	611146
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC30A10 CL E G H	55532	613280	Hypermanganesemia with dystonia 1	613280		OMIM	1	167	25355	611146
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC37A4 CL E G H	2542	232220	Glucose-6-phosphate transport defect	232220	C0268146	OMIM	1	768	4061	602671
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC37A4 CL E G H	2542	232220	Glucose-6-phosphate transport defect	232220	C0268146	OMIM	1	720	4061	602671
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SRD5A3 CL E G H	79644	612379	Congenital disorder of glycosylation type 1Q	612379	C3150191	OMIM	1	173	25812	611715
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SRD5A3 CL E G H	79644	612379	Congenital disorder of glycosylation type 1Q	612379	C3150191	OMIM	1	189	25812	611715
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SRP54 CL E G H	6729	260400	Shwachman syndrome	260400	C0272170	OMIM	1	97	11301	604857
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SRP54 CL E G H	6729	260400	Shwachman syndrome	260400	C0272170	OMIM	1	71	11301	604857
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	STEAP3 CL E G H	55240	300298				ORPHA	1	41	24592	609671
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	STEAP3 CL E G H	55240	300298				ORPHA	1	37	24592	609671
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TANGO2 CL E G H	128989	616878	TANGO2-Related Metabolic Encephalopathy and Arrhythmias	616878	C4225171	OMIM	1	550	25439	616830
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TANGO2 CL E G H	128989	616878	TANGO2-Related Metabolic Encephalopathy and Arrhythmias	616878	C4225171	OMIM	1	480	25439	616830
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TCF4 CL E G H	6925	171	Le Marec Bracq Picaud syndrome			ORPHA	1	812	11634	602272
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TCF4 CL E G H	6925	171	Le Marec Bracq Picaud syndrome			ORPHA	1	756	11634	602272
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TFAM CL E G H	7019	617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	617156	C4310690	OMIM	1	54	11741	600438
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TFR2 CL E G H	7036	604250	Hemochromatosis type 3	604250	C1858664	OMIM	1	436	11762	604720
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TFR2 CL E G H	7036	604250	Hemochromatosis type 3	604250	C1858664	OMIM	1	409	11762	604720
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TMEM165 CL E G H	55858	614727	Congenital disorder of glycosylation type 2k	614727	C3553571	OMIM	1	108	30760	614726
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TMEM165 CL E G H	55858	614727	Congenital disorder of glycosylation type 2k	614727	C3553571	OMIM	1	91	30760	614726
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	402	28396	609884
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	569	28396	609884
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TMEM67 CL E G H	91147	1454	Common atrioventricular canal		C0221215	ORPHA	1	569	28396	609884
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TMEM67 CL E G H	91147	1454	Common atrioventricular canal		C0221215	ORPHA	1	402	28396	609884
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TNFRSF13B CL E G H	23495	1572				ORPHA	1	322	18153	604907
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TNFRSF13B CL E G H	23495	1572				ORPHA	1	284	18153	604907
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TNFRSF13C CL E G H	115650	1572				ORPHA	1	125	17755	606269
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TNFRSF13C CL E G H	115650	1572				ORPHA	1	101	17755	606269
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TNFSF12 CL E G H	8742	1572				ORPHA	1	131	11927	602695
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TNFSF12 CL E G H	8742	1572				ORPHA	1	94	11927	602695
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TRAPPC11 CL E G H	60684	369840				ORPHA	1	673	25751	614138
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TRAPPC11 CL E G H	60684	369840				ORPHA	1	573	25751	614138
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TREX1 CL E G H	11277	51				ORPHA	1	289	12269	606609
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TREX1 CL E G H	11277	51				ORPHA	1	198	12269	606609
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TREX1 CL E G H	11277	225750	Aicardi Goutieres syndrome 1	225750	C0796126	OMIM	1	289	12269	606609
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TREX1 CL E G H	11277	225750	Aicardi Goutieres syndrome 1	225750	C0796126	OMIM	1	198	12269	606609
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TREX1 CL E G H	11277	192315	Vasculopathy, retinal, with cerebral leukodystrophy	192315	C1860518	OMIM	1	289	12269	606609
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TREX1 CL E G H	11277	192315	Vasculopathy, retinal, with cerebral leukodystrophy	192315	C1860518	OMIM	1	198	12269	606609
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TRMT10C CL E G H	54931	616974	Combined oxidative phosphorylation deficiency 30	616974	C4310773	OMIM	1	27	26022	615423
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TRMT10C CL E G H	54931	616974	Combined oxidative phosphorylation deficiency 30	616974	C4310773	OMIM	1	21	26022	615423
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TRMU CL E G H	55687	613070	Liver failure acute infantile	613070	C3278664	OMIM	1	448	25481	610230
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TRMU CL E G H	55687	613070	Liver failure acute infantile	613070	C3278664	OMIM	1	431	25481	610230
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	665	3148	131222
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	550	3148	131222
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	UQCRC2 CL E G H	7385	615160	Mitochondrial complex III deficiency, nuclear type 5	615160	C3554608	OMIM	1	179	12586	191329
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	UQCRC2 CL E G H	7385	615160	Mitochondrial complex III deficiency, nuclear type 5	615160	C3554608	OMIM	1	161	12586	191329
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	VIPAS39 CL E G H	63894	613404	Arthrogryposis, renal dysfunction, and cholestasis 2	613404	C3150672	OMIM	1	161	20347	613401
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	VIPAS39 CL E G H	63894	613404	Arthrogryposis, renal dysfunction, and cholestasis 2	613404	C3150672	OMIM	1	160	20347	613401
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	VPS33B CL E G H	26276	208085	Arthrogryposis renal dysfunction cholestasis syndrome	208085	C1859722	OMIM	1	272	12712	608552
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	VPS33B CL E G H	26276	208085	Arthrogryposis renal dysfunction cholestasis syndrome	208085	C1859722	OMIM	1	263	12712	608552
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	WDR35 CL E G H	57539	613610	Cranioectodermal dysplasia 2	613610	C3150874	OMIM	1	401	29250	613602
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	WDR35 CL E G H	57539	613610	Cranioectodermal dysplasia 2	613610	C3150874	OMIM	1	474	29250	613602
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ABCB4 CL E G H	5244	600803	Cholecystitis	600803	C0008325	OMIM	1	425	45	171060
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ABCB4 CL E G H	5244	600803	Cholecystitis	600803	C0008325	OMIM	1	425	45	171060
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ABCB4 CL E G H	5244	600803	Cholecystitis	600803	C0008325	OMIM	1	412	45	171060
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ABCB4 CL E G H	5244	600803	Cholecystitis	600803	C0008325	OMIM	1	412	45	171060
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ABCB4 CL E G H	5244	600803	Cholecystitis	600803	C0008325	OMIM	1	425	45	171060
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ABCB4 CL E G H	5244	600803	Cholecystitis	600803	C0008325	OMIM	1	425	45	171060
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ABCB4 CL E G H	5244	600803	Cholecystitis	600803	C0008325	OMIM	1	412	45	171060
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ABCB4 CL E G H	5244	600803	Cholecystitis	600803	C0008325	OMIM	1	412	45	171060
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ABCB4 CL E G H	5244	602347	Progressive familial intrahepatic cholestasis 3	602347	C1865643	OMIM	1	425	45	171060
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ABCB4 CL E G H	5244	602347	Progressive familial intrahepatic cholestasis 3	602347	C1865643	OMIM	1	425	45	171060
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ABCB4 CL E G H	5244	602347	Progressive familial intrahepatic cholestasis 3	602347	C1865643	OMIM	1	412	45	171060
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ABCB4 CL E G H	5244	602347	Progressive familial intrahepatic cholestasis 3	602347	C1865643	OMIM	1	412	45	171060
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ABCB4 CL E G H	5244	602347	Progressive familial intrahepatic cholestasis 3	602347	C1865643	OMIM	1	425	45	171060
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ABCB4 CL E G H	5244	602347	Progressive familial intrahepatic cholestasis 3	602347	C1865643	OMIM	1	425	45	171060
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ABCB4 CL E G H	5244	602347	Progressive familial intrahepatic cholestasis 3	602347	C1865643	OMIM	1	412	45	171060
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ABCB4 CL E G H	5244	602347	Progressive familial intrahepatic cholestasis 3	602347	C1865643	OMIM	1	412	45	171060
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ABCD3 CL E G H	5825	616278	Bile acid synthesis defect, congenital, 5	616278	C4225390	OMIM	1	37	67	170995
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ABCD3 CL E G H	5825	616278	Bile acid synthesis defect, congenital, 5	616278	C4225390	OMIM	1	37	67	170995
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ABCD3 CL E G H	5825	616278	Bile acid synthesis defect, congenital, 5	616278	C4225390	OMIM	1	28	67	170995
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ABCD3 CL E G H	5825	616278	Bile acid synthesis defect, congenital, 5	616278	C4225390	OMIM	1	28	67	170995
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ABCD3 CL E G H	5825	616278	Bile acid synthesis defect, congenital, 5	616278	C4225390	OMIM	1	37	67	170995
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ABCD3 CL E G H	5825	616278	Bile acid synthesis defect, congenital, 5	616278	C4225390	OMIM	1	37	67	170995
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ABCD3 CL E G H	5825	616278	Bile acid synthesis defect, congenital, 5	616278	C4225390	OMIM	1	28	67	170995
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ABCD3 CL E G H	5825	616278	Bile acid synthesis defect, congenital, 5	616278	C4225390	OMIM	1	28	67	170995
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ABHD5 CL E G H	51099	98907				ORPHA	1	173	21396	604780
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ABHD5 CL E G H	51099	98907				ORPHA	1	173	21396	604780
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ABHD5 CL E G H	51099	98907				ORPHA	1	184	21396	604780
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ABHD5 CL E G H	51099	98907				ORPHA	1	184	21396	604780
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ABHD5 CL E G H	51099	98907				ORPHA	1	173	21396	604780
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ABHD5 CL E G H	51099	98907				ORPHA	1	173	21396	604780
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ABHD5 CL E G H	51099	98907				ORPHA	1	184	21396	604780
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ABHD5 CL E G H	51099	98907				ORPHA	1	184	21396	604780
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ACAD9 CL E G H	28976	99901				ORPHA	1	427	21497	611103
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ACAD9 CL E G H	28976	99901				ORPHA	1	427	21497	611103
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ACAD9 CL E G H	28976	99901				ORPHA	1	478	21497	611103
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ACAD9 CL E G H	28976	99901				ORPHA	1	478	21497	611103
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ACAD9 CL E G H	28976	99901				ORPHA	1	427	21497	611103
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ACAD9 CL E G H	28976	99901				ORPHA	1	427	21497	611103
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ACAD9 CL E G H	28976	99901				ORPHA	1	478	21497	611103
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ACAD9 CL E G H	28976	99901				ORPHA	1	478	21497	611103
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ACAD9 CL E G H	28976	611126	Acyl-CoA dehydrogenase family, member 9, deficiency of	611126	C1970173	OMIM	1	427	21497	611103
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ACAD9 CL E G H	28976	611126	Acyl-CoA dehydrogenase family, member 9, deficiency of	611126	C1970173	OMIM	1	427	21497	611103
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ACAD9 CL E G H	28976	611126	Acyl-CoA dehydrogenase family, member 9, deficiency of	611126	C1970173	OMIM	1	478	21497	611103
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ACAD9 CL E G H	28976	611126	Acyl-CoA dehydrogenase family, member 9, deficiency of	611126	C1970173	OMIM	1	478	21497	611103
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ACAD9 CL E G H	28976	611126	Acyl-CoA dehydrogenase family, member 9, deficiency of	611126	C1970173	OMIM	1	427	21497	611103
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ACAD9 CL E G H	28976	611126	Acyl-CoA dehydrogenase family, member 9, deficiency of	611126	C1970173	OMIM	1	427	21497	611103
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ACAD9 CL E G H	28976	611126	Acyl-CoA dehydrogenase family, member 9, deficiency of	611126	C1970173	OMIM	1	478	21497	611103
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ACAD9 CL E G H	28976	611126	Acyl-CoA dehydrogenase family, member 9, deficiency of	611126	C1970173	OMIM	1	478	21497	611103
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ACADM CL E G H	34	201450	Medium-chain acyl-coenzyme A dehydrogenase deficiency	201450	C0220710	OMIM	1	491	89	607008
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ACADM CL E G H	34	201450	Medium-chain acyl-coenzyme A dehydrogenase deficiency	201450	C0220710	OMIM	1	491	89	607008
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ACADM CL E G H	34	201450	Medium-chain acyl-coenzyme A dehydrogenase deficiency	201450	C0220710	OMIM	1	559	89	607008
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ACADM CL E G H	34	201450	Medium-chain acyl-coenzyme A dehydrogenase deficiency	201450	C0220710	OMIM	1	559	89	607008
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ACADM CL E G H	34	201450	Medium-chain acyl-coenzyme A dehydrogenase deficiency	201450	C0220710	OMIM	1	491	89	607008
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ACADM CL E G H	34	201450	Medium-chain acyl-coenzyme A dehydrogenase deficiency	201450	C0220710	OMIM	1	491	89	607008
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ACADM CL E G H	34	201450	Medium-chain acyl-coenzyme A dehydrogenase deficiency	201450	C0220710	OMIM	1	559	89	607008
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ACADM CL E G H	34	201450	Medium-chain acyl-coenzyme A dehydrogenase deficiency	201450	C0220710	OMIM	1	559	89	607008
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	435	119	609751
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	435	119	609751
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	388	119	609751
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	388	119	609751
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	435	119	609751
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	435	119	609751
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	388	119	609751
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	388	119	609751
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ADAR CL E G H	103	51				ORPHA	1	654	225	146920
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ADAR CL E G H	103	51				ORPHA	1	654	225	146920
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ADAR CL E G H	103	51				ORPHA	1	471	225	146920
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ADAR CL E G H	103	51				ORPHA	1	471	225	146920
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ADAR CL E G H	103	51				ORPHA	1	654	225	146920
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ADAR CL E G H	103	51				ORPHA	1	654	225	146920
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ADAR CL E G H	103	51				ORPHA	1	471	225	146920
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ADAR CL E G H	103	51				ORPHA	1	471	225	146920
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ADK CL E G H	132	614300	Hypermethioninemia due to adenosine kinase deficiency	614300	C3280381	OMIM	1	73	257	102750
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ADK CL E G H	132	614300	Hypermethioninemia due to adenosine kinase deficiency	614300	C3280381	OMIM	1	73	257	102750
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ADK CL E G H	132	614300	Hypermethioninemia due to adenosine kinase deficiency	614300	C3280381	OMIM	1	79	257	102750
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ADK CL E G H	132	614300	Hypermethioninemia due to adenosine kinase deficiency	614300	C3280381	OMIM	1	79	257	102750
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ADK CL E G H	132	614300	Hypermethioninemia due to adenosine kinase deficiency	614300	C3280381	OMIM	1	73	257	102750
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ADK CL E G H	132	614300	Hypermethioninemia due to adenosine kinase deficiency	614300	C3280381	OMIM	1	73	257	102750
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ADK CL E G H	132	614300	Hypermethioninemia due to adenosine kinase deficiency	614300	C3280381	OMIM	1	79	257	102750
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ADK CL E G H	132	614300	Hypermethioninemia due to adenosine kinase deficiency	614300	C3280381	OMIM	1	79	257	102750
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	1529	321	610860
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	1529	321	610860
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	1299	321	610860
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	1299	321	610860
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	1529	321	610860
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	1529	321	610860
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	1299	321	610860
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	1299	321	610860
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	205	325	603100
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	205	325	603100
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	203	325	603100
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	203	325	603100
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	205	325	603100
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	205	325	603100
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	203	325	603100
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	203	325	603100
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	AGPAT2 CL E G H	10555	608594	Congenital generalized lipodystrophy type 1	608594	C1720862	OMIM	1	203	325	603100
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	AGPAT2 CL E G H	10555	608594	Congenital generalized lipodystrophy type 1	608594	C1720862	OMIM	1	203	325	603100
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	AGPAT2 CL E G H	10555	608594	Congenital generalized lipodystrophy type 1	608594	C1720862	OMIM	1	205	325	603100
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	AGPAT2 CL E G H	10555	608594	Congenital generalized lipodystrophy type 1	608594	C1720862	OMIM	1	205	325	603100
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	AGPAT2 CL E G H	10555	608594	Congenital generalized lipodystrophy type 1	608594	C1720862	OMIM	1	203	325	603100
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	AGPAT2 CL E G H	10555	608594	Congenital generalized lipodystrophy type 1	608594	C1720862	OMIM	1	203	325	603100
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	AGPAT2 CL E G H	10555	608594	Congenital generalized lipodystrophy type 1	608594	C1720862	OMIM	1	205	325	603100
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	AGPAT2 CL E G H	10555	608594	Congenital generalized lipodystrophy type 1	608594	C1720862	OMIM	1	205	325	603100
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	AHCY CL E G H	191	88618				ORPHA	1	113	343	180960
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	AHCY CL E G H	191	88618				ORPHA	1	113	343	180960
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	AHCY CL E G H	191	88618				ORPHA	1	126	343	180960
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	AHCY CL E G H	191	88618				ORPHA	1	126	343	180960
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	AHCY CL E G H	191	88618				ORPHA	1	113	343	180960
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	AHCY CL E G H	191	88618				ORPHA	1	113	343	180960
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	AHCY CL E G H	191	88618				ORPHA	1	126	343	180960
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	AHCY CL E G H	191	88618				ORPHA	1	126	343	180960
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	AKR1D1 CL E G H	6718	79303				ORPHA	1	202	388	604741
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	AKR1D1 CL E G H	6718	79303				ORPHA	1	202	388	604741
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	AKR1D1 CL E G H	6718	79303				ORPHA	1	206	388	604741
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	AKR1D1 CL E G H	6718	79303				ORPHA	1	206	388	604741
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	AKR1D1 CL E G H	6718	79303				ORPHA	1	202	388	604741
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	AKR1D1 CL E G H	6718	79303				ORPHA	1	202	388	604741
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	AKR1D1 CL E G H	6718	79303				ORPHA	1	206	388	604741
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	AKR1D1 CL E G H	6718	79303				ORPHA	1	206	388	604741
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	AKR1D1 CL E G H	6718	235555	Bile acid synthesis defect, congenital, 2	235555	C1856127	OMIM	1	206	388	604741
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	AKR1D1 CL E G H	6718	235555	Bile acid synthesis defect, congenital, 2	235555	C1856127	OMIM	1	206	388	604741
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	AKR1D1 CL E G H	6718	235555	Bile acid synthesis defect, congenital, 2	235555	C1856127	OMIM	1	202	388	604741
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	AKR1D1 CL E G H	6718	235555	Bile acid synthesis defect, congenital, 2	235555	C1856127	OMIM	1	202	388	604741
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	AKR1D1 CL E G H	6718	235555	Bile acid synthesis defect, congenital, 2	235555	C1856127	OMIM	1	206	388	604741
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	AKR1D1 CL E G H	6718	235555	Bile acid synthesis defect, congenital, 2	235555	C1856127	OMIM	1	206	388	604741
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	AKR1D1 CL E G H	6718	235555	Bile acid synthesis defect, congenital, 2	235555	C1856127	OMIM	1	202	388	604741
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	AKR1D1 CL E G H	6718	235555	Bile acid synthesis defect, congenital, 2	235555	C1856127	OMIM	1	202	388	604741
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ALDOB CL E G H	229	229600	Hereditary fructosuria	229600	C0016751	OMIM	1	316	417	612724
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ALDOB CL E G H	229	229600	Hereditary fructosuria	229600	C0016751	OMIM	1	316	417	612724
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ALDOB CL E G H	229	229600	Hereditary fructosuria	229600	C0016751	OMIM	1	330	417	612724
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ALDOB CL E G H	229	229600	Hereditary fructosuria	229600	C0016751	OMIM	1	330	417	612724
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ALDOB CL E G H	229	229600	Hereditary fructosuria	229600	C0016751	OMIM	1	316	417	612724
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ALDOB CL E G H	229	229600	Hereditary fructosuria	229600	C0016751	OMIM	1	316	417	612724
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ALDOB CL E G H	229	229600	Hereditary fructosuria	229600	C0016751	OMIM	1	330	417	612724
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ALDOB CL E G H	229	229600	Hereditary fructosuria	229600	C0016751	OMIM	1	330	417	612724
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	2504	428	606844
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	2504	428	606844
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	3342	428	606844
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	3342	428	606844
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	2504	428	606844
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	2504	428	606844
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	3342	428	606844
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	3342	428	606844
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	AMACR CL E G H	23600	214950	Bile acid synthesis defect, congenital, 4	214950	C1858328	OMIM	1	164	451	604489
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	AMACR CL E G H	23600	214950	Bile acid synthesis defect, congenital, 4	214950	C1858328	OMIM	1	164	451	604489
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	AMACR CL E G H	23600	214950	Bile acid synthesis defect, congenital, 4	214950	C1858328	OMIM	1	251	451	604489
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	AMACR CL E G H	23600	214950	Bile acid synthesis defect, congenital, 4	214950	C1858328	OMIM	1	251	451	604489
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	AMACR CL E G H	23600	214950	Bile acid synthesis defect, congenital, 4	214950	C1858328	OMIM	1	164	451	604489
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	AMACR CL E G H	23600	214950	Bile acid synthesis defect, congenital, 4	214950	C1858328	OMIM	1	164	451	604489
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	AMACR CL E G H	23600	214950	Bile acid synthesis defect, congenital, 4	214950	C1858328	OMIM	1	251	451	604489
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	AMACR CL E G H	23600	214950	Bile acid synthesis defect, congenital, 4	214950	C1858328	OMIM	1	251	451	604489
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ATM CL E G H	472	100				ORPHA	1	11382	795	607585
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ATM CL E G H	472	100				ORPHA	1	11382	795	607585
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ATM CL E G H	472	100				ORPHA	1	10320	795	607585
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ATM CL E G H	472	100				ORPHA	1	10320	795	607585
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ATM CL E G H	472	100				ORPHA	1	11382	795	607585
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ATM CL E G H	472	100				ORPHA	1	11382	795	607585
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ATM CL E G H	472	100				ORPHA	1	10320	795	607585
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ATM CL E G H	472	100				ORPHA	1	10320	795	607585
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ATP6AP1 CL E G H	537	300972	Immunodeficiency 47	300972	C4310819	OMIM	1	291	868	300197
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ATP6AP1 CL E G H	537	300972	Immunodeficiency 47	300972	C4310819	OMIM	1	291	868	300197
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ATP6AP1 CL E G H	537	300972	Immunodeficiency 47	300972	C4310819	OMIM	1	262	868	300197
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ATP6AP1 CL E G H	537	300972	Immunodeficiency 47	300972	C4310819	OMIM	1	262	868	300197
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ATP6AP1 CL E G H	537	300972	Immunodeficiency 47	300972	C4310819	OMIM	1	291	868	300197
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ATP6AP1 CL E G H	537	300972	Immunodeficiency 47	300972	C4310819	OMIM	1	291	868	300197
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ATP6AP1 CL E G H	537	300972	Immunodeficiency 47	300972	C4310819	OMIM	1	262	868	300197
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ATP6AP1 CL E G H	537	300972	Immunodeficiency 47	300972	C4310819	OMIM	1	262	868	300197
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ATP7B CL E G H	540	905				ORPHA	1	1579	870	606882
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ATP7B CL E G H	540	905				ORPHA	1	1579	870	606882
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ATP7B CL E G H	540	905				ORPHA	1	1389	870	606882
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ATP7B CL E G H	540	905				ORPHA	1	1389	870	606882
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ATP7B CL E G H	540	905				ORPHA	1	1579	870	606882
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ATP7B CL E G H	540	905				ORPHA	1	1579	870	606882
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ATP7B CL E G H	540	905				ORPHA	1	1389	870	606882
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ATP7B CL E G H	540	905				ORPHA	1	1389	870	606882
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ATP8B1 CL E G H	5205	147480	Cholestasis of pregnancy	147480	C0268318	OMIM	1	494	3706	602397
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ATP8B1 CL E G H	5205	147480	Cholestasis of pregnancy	147480	C0268318	OMIM	1	494	3706	602397
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ATP8B1 CL E G H	5205	147480	Cholestasis of pregnancy	147480	C0268318	OMIM	1	496	3706	602397
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ATP8B1 CL E G H	5205	147480	Cholestasis of pregnancy	147480	C0268318	OMIM	1	496	3706	602397
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	ATP8B1 CL E G H	5205	147480	Cholestasis of pregnancy	147480	C0268318	OMIM	1	494	3706	602397
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	ATP8B1 CL E G H	5205	147480	Cholestasis of pregnancy	147480	C0268318	OMIM	1	494	3706	602397
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	ATP8B1 CL E G H	5205	147480	Cholestasis of pregnancy	147480	C0268318	OMIM	1	496	3706	602397
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	ATP8B1 CL E G H	5205	147480	Cholestasis of pregnancy	147480	C0268318	OMIM	1	496	3706	602397
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	249	1020	603647
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	249	1020	603647
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	279	1020	603647
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	279	1020	603647
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	249	1020	603647
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	249	1020	603647
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	279	1020	603647
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	279	1020	603647
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	373	15832	606158
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	373	15832	606158
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	330	15832	606158
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	330	15832	606158
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	373	15832	606158
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	373	15832	606158
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	330	15832	606158
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	330	15832	606158
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1	373	15832	606158
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1	373	15832	606158
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1	330	15832	606158
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1	330	15832	606158
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1	373	15832	606158
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1	373	15832	606158
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1	330	15832	606158
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1	330	15832	606158
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	C8orf37 CL E G H	157657	617406	Bardet-Biedl syndrome 21	617406	C4319932	OMIM	1		27232	614477
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	C8orf37 CL E G H	157657	617406	Bardet-Biedl syndrome 21	617406	C4319932	OMIM	1		27232	614477
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	C8orf37 CL E G H	157657	617406	Bardet-Biedl syndrome 21	617406	C4319932	OMIM	1		27232	614477
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	C8orf37 CL E G H	157657	617406	Bardet-Biedl syndrome 21	617406	C4319932	OMIM	1		27232	614477
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	81	1527	601047
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	85	1527	601047
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	85	1527	601047
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	81	1527	601047
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	81	1527	601047
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	85	1527	601047
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	85	1527	601047
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	81	1527	601047
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	109	9688	603198
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	109	9688	603198
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	110	9688	603198
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	110	9688	603198
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	109	9688	603198
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	109	9688	603198
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	110	9688	603198
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	110	9688	603198
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	109	9688	603198
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	109	9688	603198
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	110	9688	603198
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	110	9688	603198
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	109	9688	603198
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	109	9688	603198
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	110	9688	603198
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	110	9688	603198
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	881	29253	612013
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	881	29253	612013
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1064	29253	612013
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1064	29253	612013
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	881	29253	612013
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	881	29253	612013
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1064	29253	612013
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1064	29253	612013
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	1	1064	29253	612013
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	1	1064	29253	612013
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	1	881	29253	612013
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	1	881	29253	612013
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	1	1064	29253	612013
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	1	1064	29253	612013
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	1	881	29253	612013
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	1	881	29253	612013
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CD19 CL E G H	930	1572				ORPHA	1	272	1633	107265
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CD19 CL E G H	930	1572				ORPHA	1	272	1633	107265
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CD19 CL E G H	930	1572				ORPHA	1	223	1633	107265
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CD19 CL E G H	930	1572				ORPHA	1	223	1633	107265
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CD19 CL E G H	930	1572				ORPHA	1	272	1633	107265
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CD19 CL E G H	930	1572				ORPHA	1	272	1633	107265
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CD19 CL E G H	930	1572				ORPHA	1	223	1633	107265
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CD19 CL E G H	930	1572				ORPHA	1	223	1633	107265
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CD81 CL E G H	975	1572				ORPHA	1	107	1701	186845
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CD81 CL E G H	975	1572				ORPHA	1	107	1701	186845
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CD81 CL E G H	975	1572				ORPHA	1	77	1701	186845
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CD81 CL E G H	975	1572				ORPHA	1	77	1701	186845
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CD81 CL E G H	975	1572				ORPHA	1	107	1701	186845
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CD81 CL E G H	975	1572				ORPHA	1	107	1701	186845
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CD81 CL E G H	975	1572				ORPHA	1	77	1701	186845
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CD81 CL E G H	975	1572				ORPHA	1	77	1701	186845
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	COG2 CL E G H	22796	617395	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq	617395	C4479353	OMIM	1	159	6546	606974
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	COG2 CL E G H	22796	617395	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq	617395	C4479353	OMIM	1	159	6546	606974
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	COG2 CL E G H	22796	617395	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq	617395	C4479353	OMIM	1	147	6546	606974
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	COG2 CL E G H	22796	617395	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq	617395	C4479353	OMIM	1	147	6546	606974
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	COG2 CL E G H	22796	617395	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq	617395	C4479353	OMIM	1	159	6546	606974
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	COG2 CL E G H	22796	617395	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq	617395	C4479353	OMIM	1	159	6546	606974
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	COG2 CL E G H	22796	617395	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq	617395	C4479353	OMIM	1	147	6546	606974
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	COG2 CL E G H	22796	617395	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq	617395	C4479353	OMIM	1	147	6546	606974
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	COG4 CL E G H	25839	263501				ORPHA	1	247	18620	606976
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	COG4 CL E G H	25839	263501				ORPHA	1	247	18620	606976
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	COG4 CL E G H	25839	263501				ORPHA	1	221	18620	606976
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	COG4 CL E G H	25839	263501				ORPHA	1	221	18620	606976
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	COG4 CL E G H	25839	263501				ORPHA	1	247	18620	606976
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	COG4 CL E G H	25839	263501				ORPHA	1	247	18620	606976
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	COG4 CL E G H	25839	263501				ORPHA	1	221	18620	606976
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	COG4 CL E G H	25839	263501				ORPHA	1	221	18620	606976
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	COG4 CL E G H	25839	613489	Congenital disorder of glycosylation type 2J	613489	C3150736	OMIM	1	221	18620	606976
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	COG4 CL E G H	25839	613489	Congenital disorder of glycosylation type 2J	613489	C3150736	OMIM	1	221	18620	606976
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	COG4 CL E G H	25839	613489	Congenital disorder of glycosylation type 2J	613489	C3150736	OMIM	1	247	18620	606976
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	COG4 CL E G H	25839	613489	Congenital disorder of glycosylation type 2J	613489	C3150736	OMIM	1	247	18620	606976
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	COG4 CL E G H	25839	613489	Congenital disorder of glycosylation type 2J	613489	C3150736	OMIM	1	221	18620	606976
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	COG4 CL E G H	25839	613489	Congenital disorder of glycosylation type 2J	613489	C3150736	OMIM	1	221	18620	606976
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	COG4 CL E G H	25839	613489	Congenital disorder of glycosylation type 2J	613489	C3150736	OMIM	1	247	18620	606976
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	COG4 CL E G H	25839	613489	Congenital disorder of glycosylation type 2J	613489	C3150736	OMIM	1	247	18620	606976
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	211	18622	606978
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	211	18622	606978
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	254	18622	606978
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	254	18622	606978
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	211	18622	606978
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	211	18622	606978
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	254	18622	606978
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	254	18622	606978
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CPT1A CL E G H	1374	156				ORPHA	1	503	2328	600528
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CPT1A CL E G H	1374	156				ORPHA	1	503	2328	600528
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CPT1A CL E G H	1374	156				ORPHA	1	452	2328	600528
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CPT1A CL E G H	1374	156				ORPHA	1	452	2328	600528
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CPT1A CL E G H	1374	156				ORPHA	1	503	2328	600528
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CPT1A CL E G H	1374	156				ORPHA	1	503	2328	600528
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CPT1A CL E G H	1374	156				ORPHA	1	452	2328	600528
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CPT1A CL E G H	1374	156				ORPHA	1	452	2328	600528
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	503	2328	600528
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	503	2328	600528
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	452	2328	600528
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	452	2328	600528
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	503	2328	600528
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	503	2328	600528
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	452	2328	600528
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	452	2328	600528
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CPT2 CL E G H	1376	228308				ORPHA	1	618	2330	600650
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CPT2 CL E G H	1376	228308				ORPHA	1	618	2330	600650
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CPT2 CL E G H	1376	228308				ORPHA	1	505	2330	600650
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CPT2 CL E G H	1376	228308				ORPHA	1	505	2330	600650
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CPT2 CL E G H	1376	228308				ORPHA	1	618	2330	600650
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CPT2 CL E G H	1376	228308				ORPHA	1	618	2330	600650
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CPT2 CL E G H	1376	228308				ORPHA	1	505	2330	600650
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CPT2 CL E G H	1376	228308				ORPHA	1	505	2330	600650
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CPT2 CL E G H	1376	600649	Carnitine palmitoyltransferase II deficiency, infantile	600649	C1833511	OMIM	1	618	2330	600650
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CPT2 CL E G H	1376	600649	Carnitine palmitoyltransferase II deficiency, infantile	600649	C1833511	OMIM	1	618	2330	600650
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CPT2 CL E G H	1376	600649	Carnitine palmitoyltransferase II deficiency, infantile	600649	C1833511	OMIM	1	505	2330	600650
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CPT2 CL E G H	1376	600649	Carnitine palmitoyltransferase II deficiency, infantile	600649	C1833511	OMIM	1	505	2330	600650
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CPT2 CL E G H	1376	600649	Carnitine palmitoyltransferase II deficiency, infantile	600649	C1833511	OMIM	1	618	2330	600650
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CPT2 CL E G H	1376	600649	Carnitine palmitoyltransferase II deficiency, infantile	600649	C1833511	OMIM	1	618	2330	600650
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CPT2 CL E G H	1376	600649	Carnitine palmitoyltransferase II deficiency, infantile	600649	C1833511	OMIM	1	505	2330	600650
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CPT2 CL E G H	1376	600649	Carnitine palmitoyltransferase II deficiency, infantile	600649	C1833511	OMIM	1	505	2330	600650
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	505	2330	600650
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	505	2330	600650
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	618	2330	600650
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	618	2330	600650
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	505	2330	600650
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	505	2330	600650
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	618	2330	600650
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	618	2330	600650
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CR2 CL E G H	1380	1572				ORPHA	1	453	2336	120650
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CR2 CL E G H	1380	1572				ORPHA	1	453	2336	120650
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CR2 CL E G H	1380	1572				ORPHA	1	358	2336	120650
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CR2 CL E G H	1380	1572				ORPHA	1	358	2336	120650
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CR2 CL E G H	1380	1572				ORPHA	1	453	2336	120650
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CR2 CL E G H	1380	1572				ORPHA	1	453	2336	120650
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CR2 CL E G H	1380	1572				ORPHA	1	358	2336	120650
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CR2 CL E G H	1380	1572				ORPHA	1	358	2336	120650
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CYC1 CL E G H	1537	615453	Mitochondrial complex III deficiency, nuclear type 6	615453	C3809553	OMIM	1	94	2579	123980
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CYC1 CL E G H	1537	615453	Mitochondrial complex III deficiency, nuclear type 6	615453	C3809553	OMIM	1	94	2579	123980
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CYC1 CL E G H	1537	615453	Mitochondrial complex III deficiency, nuclear type 6	615453	C3809553	OMIM	1	100	2579	123980
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CYC1 CL E G H	1537	615453	Mitochondrial complex III deficiency, nuclear type 6	615453	C3809553	OMIM	1	100	2579	123980
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CYC1 CL E G H	1537	615453	Mitochondrial complex III deficiency, nuclear type 6	615453	C3809553	OMIM	1	94	2579	123980
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CYC1 CL E G H	1537	615453	Mitochondrial complex III deficiency, nuclear type 6	615453	C3809553	OMIM	1	94	2579	123980
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CYC1 CL E G H	1537	615453	Mitochondrial complex III deficiency, nuclear type 6	615453	C3809553	OMIM	1	100	2579	123980
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CYC1 CL E G H	1537	615453	Mitochondrial complex III deficiency, nuclear type 6	615453	C3809553	OMIM	1	100	2579	123980
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CYP7B1 CL E G H	9420	79302				ORPHA	1	239	2652	603711
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CYP7B1 CL E G H	9420	79302				ORPHA	1	239	2652	603711
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CYP7B1 CL E G H	9420	79302				ORPHA	1	295	2652	603711
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CYP7B1 CL E G H	9420	79302				ORPHA	1	295	2652	603711
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CYP7B1 CL E G H	9420	79302				ORPHA	1	239	2652	603711
HP:0002910	HP:0008150	Elevated serum transaminases during infections	1	CYP7B1 CL E G H	9420	79302				ORPHA	1	239	2652	603711
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CYP7B1 CL E G H	9420	79302				ORPHA	1	295	2652	603711
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CYP7B1 CL E G H	9420	79302				ORPHA	1	295	2652	603711
HP:0002910	HP:0031956	Elevated circulating aspartate aminotransferase concentration	1	CYP7B1 CL E G H	9420	613812	Bile acid synthesis defect, congenital, 3	613812	C3151147	OMIM	1	239	2652	603711
HP:0002910	HP:0200148	Abnormal liver function tests during pregnancy	1	CYP7B1 CL E G H	9420	613812	Bile acid synthesis defect, congenital, 3	613812	C3151147	OMIM	1	239	2652	603711
HP:0002910	HP:0031964	Elevated circulating alanine aminotransferase concentration	1	CYP7B1 CL E G H	9420