Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	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	244	334	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	244	334	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	7	26	67	170995
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ABHD5 CL E G H	51099	98907				ORPHA	1	39	155	21396	604780
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ACAD9 CL E G H	28976	99901				ORPHA	1	61	217	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	61	217	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	171	389	89	607008
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	26	257	119	609751
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ADAR CL E G H	103	51				ORPHA	1	229	316	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	15	64	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	248	858	321	610860
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	43	189	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	43	189	325	603100
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	AHCY CL E G H	191	88618				ORPHA	1	15	94	343	180960
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	AKR1D1 CL E G H	6718	79303				ORPHA	1	15	179	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	15	179	388	604741
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ALDOB CL E G H	229	229600	Hereditary fructosuria	229600	C0016751	OMIM	1	67	210	417	612724
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	316	1745	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	14	147	451	604489
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ATM CL E G H	472	100				ORPHA	1	1324	8934	795	607585
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ATP6AP1 CL E G H	537	300972	Immunodeficiency 47	300972	C4310819	OMIM	1	5	233	868	300197
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ATP7B CL E G H	540	905				ORPHA	1	938	958	870	606882
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ATP8B1 CL E G H	5205	147480	Cholestasis of pregnancy	147480	C0268318	OMIM	1	140	361	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	37	174	1020	603647
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	50	263	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	50	263	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	17	119	27232	614477
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	13	62	1527	601047
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	15	94	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	15	94	9688	603198
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	96	584	29253	612013
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	1	96	584	29253	612013
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CD19 CL E G H	930	1572				ORPHA	1	10	196	1633	107265
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CD81 CL E G H	975	1572				ORPHA	1	2	49	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	2	91	6546	606974
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	COG4 CL E G H	25839	263501				ORPHA	1	6	141	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	6	141	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	5	159	18622	606978
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CPT1A CL E G H	1374	156				ORPHA	1	53	239	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	53	239	2328	600528
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CPT2 CL E G H	1376	228308				ORPHA	1	113	366	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	113	366	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	113	366	2330	600650
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CR2 CL E G H	1380	1572				ORPHA	1	19	233	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	2	76	2579	123980
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CYP7B1 CL E G H	9420	79302				ORPHA	1	63	199	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	63	199	2652	603711
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DCDC2 CL E G H	51473	617394	Sclerosing cholangitis, neonatal	617394	C4479344	OMIM	1	11	106	18141	605755
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DDOST CL E G H	1650	300536				ORPHA	1	2	106	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	64	122	2858	601465
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DHDDS CL E G H	79947	613861	Retinitis pigmentosa 59	613861	C3151227	OMIM	1	8	122	20603	608172
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DLD CL E G H	1738	2394	Frontonasal dysplasia Klippel Feil syndrome			ORPHA	1	23	202	2898	238331
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DMD CL E G H	1756	98895				ORPHA	1	3970	3760	2928	300377
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DNAJC19 CL E G H	131118	66634				ORPHA	1	6	55	30528	608977
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DNAJC21 CL E G H	134218	260400	Shwachman syndrome	260400	C0272170	OMIM	1	11	60	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	9	120	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	2	93	3006	603564
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DPM3 CL E G H	54344	263494				ORPHA	1	2	41	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	2	41	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	81	125	3255	604032
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ERCC4 CL E G H	2072	610965	XFE progeroid syndrome	610965	C1970416	OMIM	1	72	348	3436	133520
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	F5 CL E G H	2153	131	Myeloid sarcoma			ORPHA	1	169	329	3542	612309
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	FAH CL E G H	2184	276700	Tyrosinemia type I	276700	C0268490	OMIM	1	102	263	3579	613871
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	2	28	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	118		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	6	47	20134	609588
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	222	475	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	6	24	4415	606628
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	GPD1 CL E G H	2819	614480	Hypertriglyceridemia, transient infantile	614480	C3280953	OMIM	1	10	28	4455	138420
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	GPR35 CL E G H	2859	171	Le Marec Bracq Picaud syndrome			ORPHA	1	2	112	4492	602646
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HADH CL E G H	3033	71212				ORPHA	1	26	94	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	71	302	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	67	148	4803	143450
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HAMP CL E G H	57817	79230				ORPHA	1	16	42	15598	606464
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HAMP CL E G H	57817	613313	Hemochromatosis type 2B	613313	C1865616	OMIM	1	16	42	15598	606464
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HFE CL E G H	3077	235200	Hemochromatosis type 1	235200	C3469186	OMIM	1	61	103	4886	613609
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HJV CL E G H	148738	79230				ORPHA	1	58	257	4887	608374
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HNF1A CL E G H	6927	324575				ORPHA	1	539	343	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	240	488	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	157	283	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	101	305	5213	601860
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HSD3B7 CL E G H	80270	79301				ORPHA	1	26	96	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	26	96	18324	607764
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ICOS CL E G H	29851	1572				ORPHA	1	6	108	5351	604558
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	IFIH1 CL E G H	64135	51				ORPHA	1	28	286	18873	606951
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	IFT172 CL E G H	26160	616394	Retinitis pigmentosa 71	616394	C4225342	OMIM	1	27	269	30391	607386
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	INPP5E CL E G H	56623	1454	Common atrioventricular canal		C0221215	ORPHA	1	54	325	21474	613037
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	JAG1 CL E G H	182	118450	Alagille syndrome 1	118450	C1956125	OMIM	1	620	645	6188	601920
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	JAK2 CL E G H	3717	131	Myeloid sarcoma			ORPHA	1	26	228	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	7		6512	151350
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	LBR CL E G H	3930	613471	Reynolds syndrome	613471	C0748397	OMIM	1	28	172	6518	600024
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	LIPT1 CL E G H	51601	616299	Lipoyltransferase 1 deficiency	616299	C4225379	OMIM	1	9	54	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	17		6898	156560
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MPV17 CL E G H	4358	256810	Navajo neurohepatopathy	256810	C1850406	OMIM	1	50	124	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	4	44	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	2	62	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	1	51	14048	609204
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MS4A1 CL E G H	931	1572				ORPHA	1	2	14	7315	112210
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MST1 CL E G H	4485	171	Le Marec Bracq Picaud syndrome			ORPHA	1	1	15	7380	142408
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	MVK CL E G H	4598	610377	Mevalonic aciduria	610377	C1959626	OMIM	1	183	277	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	44	156	15625	608025
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	NFKB1 CL E G H	4790	1572				ORPHA	1	36	97	7794	164011
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	NFKB2 CL E G H	4791	1572				ORPHA	1	11	165	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	8	64	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	20	61	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	10	196	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	4	133	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	35	162	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	114	358	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	33	120	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	129	363	9115	601785
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PNPLA2 CL E G H	57104	98908				ORPHA	1	49	277	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	49	277	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	32	2249	9175	174761
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	300	1196	9179	174763
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	POLG CL E G H	5428	203700	Progressive sclerosing poliodystrophy	203700	C0205710	OMIM	1	300	1196	9179	174763
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	54	90	9236	601487
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PRKCD CL E G H	5580	1572				ORPHA	1	6	144	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	5	17	9541	602177
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PSMB8 CL E G H	5696	256040	Nakajo syndrome	256040	C1850568	OMIM	1	11	86	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	5	11	9546	177045
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RNASEH2A CL E G H	10535	51				ORPHA	1	21	133	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	21	133	18518	606034
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RNASEH2B CL E G H	79621	51				ORPHA	1	42	149	25671	610326
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RNASEH2C CL E G H	84153	51				ORPHA	1	15	112	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	15	112	24116	610330
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	51	432	29168	610937
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RPGRIP1L CL E G H	23322	1454	Common atrioventricular canal		C0221215	ORPHA	1	51	432	29168	610937
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	43	216	17296	604712
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SAMHD1 CL E G H	25939	51				ORPHA	1	57	200	15925	606754
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	16	37	10535	607690
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SBDS CL E G H	51119	260400	Shwachman syndrome	260400	C0272170	OMIM	1	90	60	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	108	286	8941	107400
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC22A5 CL E G H	6584	158				ORPHA	1	161	492	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	161	492	10969	603377
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC25A13 CL E G H	10165	603471	Citrullinemia type II	603471	C1863844	OMIM	1	115	229	10983	603859
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC25A20 CL E G H	788	159				ORPHA	1	42	102	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	42	102	1421	613698
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC30A10 CL E G H	55532	309854				ORPHA	1	22	92	25355	611146
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC30A10 CL E G H	55532	613280	Hypermanganesemia with dystonia 1	613280		OMIM	1	22	92	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	116	598	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	16	139	25812	611715
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SRP54 CL E G H	6729	260400	Shwachman syndrome	260400	C0272170	OMIM	1	3	31	11301	604857
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	STEAP3 CL E G H	55240	300298				ORPHA	1	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	9	413	25439	616830
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TCF4 CL E G H	6925	171	Le Marec Bracq Picaud syndrome			ORPHA	1	148	624	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	4	34	11741	600438
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TFR2 CL E G H	7036	604250	Hemochromatosis type 3	604250	C1858664	OMIM	1	54	229	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	6	68	30760	614726
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	174	316	28396	609884
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TMEM67 CL E G H	91147	1454	Common atrioventricular canal		C0221215	ORPHA	1	174	316	28396	609884
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TNFRSF13B CL E G H	23495	1572				ORPHA	1	50	228	18153	604907
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TNFRSF13C CL E G H	115650	1572				ORPHA	1	3	82	17755	606269
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TNFSF12 CL E G H	8742	1572				ORPHA	1	1	67	11927	602695
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TRAPPC11 CL E G H	60684	369840				ORPHA	1	17	351	25751	614138
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TREX1 CL E G H	11277	51				ORPHA	1	71	153	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	71	153	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	71	153	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	2	19	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	23	296	25481	610230
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	95	381	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	4	132	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	13	102	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	58	179	12712	608552
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	WDR35 CL E G H	57539	613610	Cranioectodermal dysplasia 2	613610	C3150874	OMIM	1	31	292	29250	613602
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	ABCB4 CL E G H	5244	600803	Cholecystitis	600803	C0008325	OMIM	1	244	334	45	171060
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	ABCB4 CL E G H	5244	602347	Progressive familial intrahepatic cholestasis 3	602347	C1865643	OMIM	1	244	334	45	171060
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	ABCD3 CL E G H	5825	616278	Bile acid synthesis defect, congenital, 5	616278	C4225390	OMIM	1	7	26	67	170995
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	ABHD5 CL E G H	51099	98907				ORPHA	1	39	155	21396	604780
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	ACAD9 CL E G H	28976	99901				ORPHA	1	61	217	21497	611103
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	ACAD9 CL E G H	28976	611126	Acyl-CoA dehydrogenase family, member 9, deficiency of	611126	C1970173	OMIM	1	61	217	21497	611103
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	ACADM CL E G H	34	201450	Medium-chain acyl-coenzyme A dehydrogenase deficiency	201450	C0220710	OMIM	1	171	389	89	607008
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	26	257	119	609751
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	ADAR CL E G H	103	51				ORPHA	1	229	316	225	146920
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	ADK CL E G H	132	614300	Hypermethioninemia due to adenosine kinase deficiency	614300	C3280381	OMIM	1	15	64	257	102750
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	248	858	321	610860
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	43	189	325	603100
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	AGPAT2 CL E G H	10555	608594	Congenital generalized lipodystrophy type 1	608594	C1720862	OMIM	1	43	189	325	603100
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	AHCY CL E G H	191	88618				ORPHA	1	15	94	343	180960
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	AKR1D1 CL E G H	6718	79303				ORPHA	1	15	179	388	604741
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	AKR1D1 CL E G H	6718	235555	Bile acid synthesis defect, congenital, 2	235555	C1856127	OMIM	1	15	179	388	604741
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	ALDOB CL E G H	229	229600	Hereditary fructosuria	229600	C0016751	OMIM	1	67	210	417	612724
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	316	1745	428	606844
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	AMACR CL E G H	23600	214950	Bile acid synthesis defect, congenital, 4	214950	C1858328	OMIM	1	14	147	451	604489
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	ATM CL E G H	472	100				ORPHA	1	1324	8934	795	607585
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	ATP6AP1 CL E G H	537	300972	Immunodeficiency 47	300972	C4310819	OMIM	1	5	233	868	300197
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	ATP7B CL E G H	540	905				ORPHA	1	938	958	870	606882
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	ATP8B1 CL E G H	5205	147480	Cholestasis of pregnancy	147480	C0268318	OMIM	1	140	361	3706	602397
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	37	174	1020	603647
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	50	263	15832	606158
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1	50	263	15832	606158
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	C8orf37 CL E G H	157657	617406	Bardet-Biedl syndrome 21	617406	C4319932	OMIM	1	17	119	27232	614477
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	13	62	1527	601047
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	15	94	9688	603198
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	15	94	9688	603198
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	96	584	29253	612013
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	1	96	584	29253	612013
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	CD19 CL E G H	930	1572				ORPHA	1	10	196	1633	107265
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	CD81 CL E G H	975	1572				ORPHA	1	2	49	1701	186845
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	COG2 CL E G H	22796	617395	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq	617395	C4479353	OMIM	1	2	91	6546	606974
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	COG4 CL E G H	25839	263501				ORPHA	1	6	141	18620	606976
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	COG4 CL E G H	25839	613489	Congenital disorder of glycosylation type 2J	613489	C3150736	OMIM	1	6	141	18620	606976
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	5	159	18622	606978
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	CPT1A CL E G H	1374	156				ORPHA	1	53	239	2328	600528
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	53	239	2328	600528
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	CPT2 CL E G H	1376	228308				ORPHA	1	113	366	2330	600650
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	CPT2 CL E G H	1376	600649	Carnitine palmitoyltransferase II deficiency, infantile	600649	C1833511	OMIM	1	113	366	2330	600650
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	113	366	2330	600650
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	CR2 CL E G H	1380	1572				ORPHA	1	19	233	2336	120650
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	CYC1 CL E G H	1537	615453	Mitochondrial complex III deficiency, nuclear type 6	615453	C3809553	OMIM	1	2	76	2579	123980
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	CYP7B1 CL E G H	9420	79302				ORPHA	1	63	199	2652	603711
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	CYP7B1 CL E G H	9420	613812	Bile acid synthesis defect, congenital, 3	613812	C3151147	OMIM	1	63	199	2652	603711
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	DCDC2 CL E G H	51473	617394	Sclerosing cholangitis, neonatal	617394	C4479344	OMIM	1	11	106	18141	605755
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	DDOST CL E G H	1650	300536				ORPHA	1	2	106	2728	602202
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	64	122	2858	601465
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	DHDDS CL E G H	79947	613861	Retinitis pigmentosa 59	613861	C3151227	OMIM	1	8	122	20603	608172
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	DLD CL E G H	1738	2394	Frontonasal dysplasia Klippel Feil syndrome			ORPHA	1	23	202	2898	238331
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	DMD CL E G H	1756	98895				ORPHA	1	3970	3760	2928	300377
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	DNAJC19 CL E G H	131118	66634				ORPHA	1	6	55	30528	608977
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	DNAJC21 CL E G H	134218	260400	Shwachman syndrome	260400	C0272170	OMIM	1	11	60	27030	617048
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	DPM1 CL E G H	8813	608799	Congenital disorder of glycosylation type 1E	608799	C1837396	OMIM	1	9	120	3005	603503
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	DPM2 CL E G H	8818	615042	Congenital disorder of glycosylation type 1u	615042	C3554385	OMIM	1	2	93	3006	603564
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	DPM3 CL E G H	54344	263494				ORPHA	1	2	41	3007	605951
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	DPM3 CL E G H	54344	612937	Congenital disorder of glycosylation type 1O	612937	C2752007	OMIM	1	2	41	3007	605951
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	EIF2AK3 CL E G H	9451	1667	Dandy-Walker malformation with facial hemangioma			ORPHA	1	81	125	3255	604032
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	ERCC4 CL E G H	2072	610965	XFE progeroid syndrome	610965	C1970416	OMIM	1	72	348	3436	133520
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	F5 CL E G H	2153	131	Myeloid sarcoma			ORPHA	1	169	329	3542	612309
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	FAH CL E G H	2184	276700	Tyrosinemia type I	276700	C0268490	OMIM	1	102	263	3579	613871
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	2	28	3796	164810
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	G6PC CL E G H	2538	232200	Glycogen storage disease type 1A	232200	C2919796	OMIM	1	118		4056	613742
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	GLRX5 CL E G H	51218	616860	Sideroblastic anemia 3, pyridoxine-refractory	616860	C4225155	OMIM	1	6	47	20134	609588
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	222	475	23657	603824
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	GNMT CL E G H	27232	606664	Glycine N-methyltransferase deficiency	606664	C1847720	OMIM	1	6	24	4415	606628
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	GPD1 CL E G H	2819	614480	Hypertriglyceridemia, transient infantile	614480	C3280953	OMIM	1	10	28	4455	138420
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	GPR35 CL E G H	2859	171	Le Marec Bracq Picaud syndrome			ORPHA	1	2	112	4492	602646
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	HADH CL E G H	3033	71212				ORPHA	1	26	94	4799	601609
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	HADHA CL E G H	3030	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	71	302	4801	600890
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	HADHB CL E G H	3032	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	67	148	4803	143450
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	HAMP CL E G H	57817	79230				ORPHA	1	16	42	15598	606464
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	HAMP CL E G H	57817	613313	Hemochromatosis type 2B	613313	C1865616	OMIM	1	16	42	15598	606464
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	HFE CL E G H	3077	235200	Hemochromatosis type 1	235200	C3469186	OMIM	1	61	103	4886	613609
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	HJV CL E G H	148738	79230				ORPHA	1	58	257	4887	608374
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	HNF1A CL E G H	6927	324575				ORPHA	1	539	343	11621	142410
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	HNF1B CL E G H	6928	137920	Familial hypoplastic, glomerulocystic kidney	137920	C0431693	OMIM	1	240	488	11630	189907
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	HNF4A CL E G H	3172	263455	Hyperinsulinism due to HNF4A deficiency		CN202290	ORPHA	1	157	283	5024	600281
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	HSD17B4 CL E G H	3295	261515	Bifunctional peroxisomal enzyme deficiency	261515	C0342870	OMIM	1	101	305	5213	601860
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	HSD3B7 CL E G H	80270	79301				ORPHA	1	26	96	18324	607764
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	HSD3B7 CL E G H	80270	607765	Bile acid synthesis defect, congenital, 1	607765	C1843116	OMIM	1	26	96	18324	607764
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	ICOS CL E G H	29851	1572				ORPHA	1	6	108	5351	604558
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	IFIH1 CL E G H	64135	51				ORPHA	1	28	286	18873	606951
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	IFT172 CL E G H	26160	616394	Retinitis pigmentosa 71	616394	C4225342	OMIM	1	27	269	30391	607386
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	INPP5E CL E G H	56623	1454	Common atrioventricular canal		C0221215	ORPHA	1	54	325	21474	613037
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	JAG1 CL E G H	182	118450	Alagille syndrome 1	118450	C1956125	OMIM	1	620	645	6188	601920
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	JAK2 CL E G H	3717	131	Myeloid sarcoma			ORPHA	1	26	228	6192	147796
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	LARS CL E G H	51520	615438	Infantile liver failure syndrome 1	615438	C3809522	OMIM	1	7		6512	151350
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	LBR CL E G H	3930	613471	Reynolds syndrome	613471	C0748397	OMIM	1	28	172	6518	600024
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	LIPT1 CL E G H	51601	616299	Lipoyltransferase 1 deficiency	616299	C4225379	OMIM	1	9	54	29569	610284
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	MARS CL E G H	4141	615486	Interstitial lung and liver disease	615486	C4225400	OMIM	1	17		6898	156560
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	MPV17 CL E G H	4358	256810	Navajo neurohepatopathy	256810	C1850406	OMIM	1	50	124	7224	137960
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	MRPL3 CL E G H	11222	614582	Combined oxidative phosphorylation deficiency 9	614582	C3281234	OMIM	1	4	44	10379	607118
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	MRPL44 CL E G H	65080	615395	Combined oxidative phosphorylation deficiency 16	615395	C3809339	OMIM	1	2	62	16650	611849
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	MRPS16 CL E G H	51021	610498	Combined oxidative phosphorylation deficiency 2	610498	C1864843	OMIM	1	1	51	14048	609204
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	MS4A1 CL E G H	931	1572				ORPHA	1	2	14	7315	112210
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	MST1 CL E G H	4485	171	Le Marec Bracq Picaud syndrome			ORPHA	1	1	15	7380	142408
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	MVK CL E G H	4598	610377	Mevalonic aciduria	610377	C1959626	OMIM	1	183	277	7530	251170
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	NBAS CL E G H	51594	616483	Infantile liver failure syndrome 2	616483	C3809651	OMIM	1	44	156	15625	608025
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	NFKB1 CL E G H	4790	1572				ORPHA	1	36	97	7794	164011
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	NFKB2 CL E G H	4791	1572				ORPHA	1	11	165	7795	164012
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	NR1H4 CL E G H	9971	617049	Cholestasis, progressive familial intrahepatic, 5	617049	C4310747	OMIM	1	8	64	7967	603826
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	OCLN CL E G H	100506658	251290	Band-like calcification with simplified gyration and polymicrogyria	251290	C3489725	OMIM	1	20	61	8104	602876
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	PEX13 CL E G H	5194	614883	Peroxisome biogenesis disorder 11A	614883	C3554000	OMIM	1	10	196	8855	601789
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	4	133	9713	600279
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	PGM1 CL E G H	5236	614921	Congenital disorder of glycosylation type 1t	614921	C2752015	OMIM	1	35	162	8905	171900
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	114	358	8926	300798
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	33	120	8931	172471
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	PMM2 CL E G H	5373	212065	Carbohydrate-deficient glycoprotein syndrome type I	212065	C0349653	OMIM	1	129	363	9115	601785
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	PNPLA2 CL E G H	57104	98908				ORPHA	1	49	277	30802	609059
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	49	277	30802	609059
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	POLD1 CL E G H	5424	615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	615381	C3715192	OMIM	1	32	2249	9175	174761
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	300	1196	9179	174763
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	POLG CL E G H	5428	203700	Progressive sclerosing poliodystrophy	203700	C0205710	OMIM	1	300	1196	9179	174763
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	54	90	9236	601487
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	PRKCD CL E G H	5580	1572				ORPHA	1	6	144	9399	176977
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	PSMB4 CL E G H	5692	617591	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3	617591	CN252341	OMIM	1	5	17	9541	602177
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	PSMB8 CL E G H	5696	256040	Nakajo syndrome	256040	C1850568	OMIM	1	11	86	9545	177046
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	PSMB9 CL E G H	5698	617591	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3	617591	CN252341	OMIM	1	5	11	9546	177045
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	RNASEH2A CL E G H	10535	51				ORPHA	1	21	133	18518	606034
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	RNASEH2A CL E G H	10535	610333	Aicardi Goutieres syndrome 4	610333	C1835912	OMIM	1	21	133	18518	606034
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	RNASEH2B CL E G H	79621	51				ORPHA	1	42	149	25671	610326
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	RNASEH2C CL E G H	84153	51				ORPHA	1	15	112	24116	610330
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	RNASEH2C CL E G H	84153	610329	Aicardi Goutieres syndrome 3	610329	C1835916	OMIM	1	15	112	24116	610330
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	51	432	29168	610937
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	RPGRIP1L CL E G H	23322	1454	Common atrioventricular canal		C0221215	ORPHA	1	51	432	29168	610937
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	43	216	17296	604712
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	SAMHD1 CL E G H	25939	51				ORPHA	1	57	200	15925	606754
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	16	37	10535	607690
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	SBDS CL E G H	51119	260400	Shwachman syndrome	260400	C0272170	OMIM	1	90	60	19440	607444
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	SERPINA1 CL E G H	5265	613490	Alpha-1-antitrypsin deficiency	613490	C0221757	OMIM	1	108	286	8941	107400
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	SLC22A5 CL E G H	6584	158				ORPHA	1	161	492	10969	603377
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	SLC22A5 CL E G H	6584	212140	Renal carnitine transport defect	212140	C0342788	OMIM	1	161	492	10969	603377
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	SLC25A13 CL E G H	10165	603471	Citrullinemia type II	603471	C1863844	OMIM	1	115	229	10983	603859
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	SLC25A20 CL E G H	788	159				ORPHA	1	42	102	1421	613698
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	SLC25A20 CL E G H	788	212138	Carnitine acylcarnitine translocase deficiency	212138	C0342791	OMIM	1	42	102	1421	613698
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	SLC30A10 CL E G H	55532	309854				ORPHA	1	22	92	25355	611146
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	SLC30A10 CL E G H	55532	613280	Hypermanganesemia with dystonia 1	613280		OMIM	1	22	92	25355	611146
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	SLC37A4 CL E G H	2542	232220	Glucose-6-phosphate transport defect	232220	C0268146	OMIM	1	116	598	4061	602671
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	SRD5A3 CL E G H	79644	612379	Congenital disorder of glycosylation type 1Q	612379	C3150191	OMIM	1	16	139	25812	611715
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	SRP54 CL E G H	6729	260400	Shwachman syndrome	260400	C0272170	OMIM	1	3	31	11301	604857
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	STEAP3 CL E G H	55240	300298				ORPHA	1	1	37	24592	609671
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	TANGO2 CL E G H	128989	616878	TANGO2-Related Metabolic Encephalopathy and Arrhythmias	616878	C4225171	OMIM	1	9	413	25439	616830
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	TCF4 CL E G H	6925	171	Le Marec Bracq Picaud syndrome			ORPHA	1	148	624	11634	602272
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	TFAM CL E G H	7019	617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	617156	C4310690	OMIM	1	4	34	11741	600438
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	TFR2 CL E G H	7036	604250	Hemochromatosis type 3	604250	C1858664	OMIM	1	54	229	11762	604720
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	TMEM165 CL E G H	55858	614727	Congenital disorder of glycosylation type 2k	614727	C3553571	OMIM	1	6	68	30760	614726
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	174	316	28396	609884
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	TMEM67 CL E G H	91147	1454	Common atrioventricular canal		C0221215	ORPHA	1	174	316	28396	609884
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	TNFRSF13B CL E G H	23495	1572				ORPHA	1	50	228	18153	604907
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	TNFRSF13C CL E G H	115650	1572				ORPHA	1	3	82	17755	606269
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	TNFSF12 CL E G H	8742	1572				ORPHA	1	1	67	11927	602695
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	TRAPPC11 CL E G H	60684	369840				ORPHA	1	17	351	25751	614138
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	TREX1 CL E G H	11277	51				ORPHA	1	71	153	12269	606609
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	TREX1 CL E G H	11277	225750	Aicardi Goutieres syndrome 1	225750	C0796126	OMIM	1	71	153	12269	606609
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	TREX1 CL E G H	11277	192315	Vasculopathy, retinal, with cerebral leukodystrophy	192315	C1860518	OMIM	1	71	153	12269	606609
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	TRMT10C CL E G H	54931	616974	Combined oxidative phosphorylation deficiency 30	616974	C4310773	OMIM	1	2	19	26022	615423
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	TRMU CL E G H	55687	613070	Liver failure acute infantile	613070	C3278664	OMIM	1	23	296	25481	610230
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	95	381	3148	131222
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	UQCRC2 CL E G H	7385	615160	Mitochondrial complex III deficiency, nuclear type 5	615160	C3554608	OMIM	1	4	132	12586	191329
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	VIPAS39 CL E G H	63894	613404	Arthrogryposis, renal dysfunction, and cholestasis 2	613404	C3150672	OMIM	1	13	102	20347	613401
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	VPS33B CL E G H	26276	208085	Arthrogryposis renal dysfunction cholestasis syndrome	208085	C1859722	OMIM	1	58	179	12712	608552
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	WDR35 CL E G H	57539	613610	Cranioectodermal dysplasia 2	613610	C3150874	OMIM	1	31	292	29250	613602
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	0	55	216	1839	607575
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ALAS2 CL E G H	212	75563				ORPHA	0	103	227	397	301300
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ALAS2 CL E G H	212	300752	Protoporphyria, erythropoietic, X-linked	300752	C2677889	OMIM	0	103	227	397	301300
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	ATRX CL E G H	546	100075				ORPHA	0	170	663	886	300032
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	BRCA1 CL E G H	672	1333	Chromosome 19, ring		CN036553	ORPHA	0	2824	11498	1100	113705
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	BRCA2 CL E G H	675	1333	Chromosome 19, ring		CN036553	ORPHA	0	3025	12706	1101	600185
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	0	7	32	1243	601269
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CBS CL E G H	875	394				ORPHA	0	214	611	1550	613381
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CCDC115 CL E G H	84317	616828	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo	616828	C4225191	OMIM	0	5	48	28178	613734
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CDKN2A CL E G H	1029	1333	Chromosome 19, ring		CN036553	ORPHA	0	243	833	1787	600160
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	COG6 CL E G H	57511	614576	Congenital disorder of glycosylation type 2L	614576	C3553230	OMIM	0	10	189	18621	606977
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	CSPP1 CL E G H	79848	397715				ORPHA	0	27	257	26193	611654
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DAXX CL E G H	1616	100075				ORPHA	0		18	2681	603186
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DLD CL E G H	1738	246900	Maple syrup urine disease, type 3	246900	CN043137	OMIM	0	23	202	2898	238331
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DOLK CL E G H	22845	91131				ORPHA	0	11	215	23406	610746
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	DPAGT1 CL E G H	1798	608093	Congenital disorder of glycosylation type 1J	608093	C2931004	OMIM	0	42	157	2995	191350
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	FAN1 CL E G H	22909	614817	Interstitial nephritis, karyomegalic	614817	C3553774	OMIM	0	21	273	29170	613534
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	FARSB CL E G H	10056	613658	Rajab syndrome	613658	C3150910	OMIM	0	4	38	17800	609690
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	0	48	434	13601	605654
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	GDF2 CL E G H	2658	615506	Telangiectasia, hereditary hemorrhagic, type 5	615506	C3809710	OMIM	0	17	168	4217	605120
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	GNAS CL E G H	2778	562				ORPHA	0	279	216	4392	139320
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	GYS2 CL E G H	2998	2089				ORPHA	0	23	195	4707	138571
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HBB CL E G H	3043	231214				ORPHA	0	871	1009	4827	141900
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HLA-B CL E G H	3106	36426				ORPHA	0	53	17	4932	142830
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HNF1B CL E G H	6928	93111				ORPHA	0	240	488	11630	189907
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HNF1B CL E G H	6928	261265				ORPHA	0	240	488	11630	189907
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	HNF4A CL E G H	3172	93111				ORPHA	0	157	283	5024	600281
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	IARS CL E G H	3376	617093	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	617093	C4310720	OMIM	0	15		5330	600709
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	IER3IP1 CL E G H	51124	614231	Microcephaly, epilepsy, and diabetes syndrome	614231	C3280240	OMIM	0	4	83	18550	609382
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	IKZF1 CL E G H	10320	36426				ORPHA	0	38	42	13176	603023
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	KIAA0586 CL E G H	9786	397715				ORPHA	0	31	155	19960	610178
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	KIF23 CL E G H	9493	98870				ORPHA	0	3	32	6392	605064
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	KRAS CL E G H	3845	1333	Chromosome 19, ring		CN036553	ORPHA	0	45	274	6407	190070
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	LHX1 CL E G H	3975	261265				ORPHA	0	7	115	6593	601999
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	0	23	234	17646	610661
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	OFD1 CL E G H	8481	2750				ORPHA	0	162	510	2567	300170
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PALB2 CL E G H	79728	1333	Chromosome 19, ring		CN036553	ORPHA	0	417	3503	26144	610355
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PALLD CL E G H	23022	1333	Chromosome 19, ring		CN036553	ORPHA	0	4	395	17068	608092
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	POLG CL E G H	5428	254892				ORPHA	0	300	1196	9179	174763
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	POLG2 CL E G H	11232	254892				ORPHA	0	14	101	9180	604983
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	POLG2 CL E G H	11232	610131	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	610131	C1864668	OMIM	0	14	101	9180	604983
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	PYGL CL E G H	5836	232700	Glycogen storage disease, type VI	232700	C0017925	OMIM	0	47	163	9725	613741
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	0	14	178	15864	610924
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	RRM2B CL E G H	50484	254892				ORPHA	0	43	216	17296	604712
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	6	182	10547	602286
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SDHD CL E G H	6392	100093				ORPHA	0	174	361	10683	602690
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SLC25A4 CL E G H	291	254892				ORPHA	0	17	234	10990	103220
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SMAD4 CL E G H	4089	1333	Chromosome 19, ring		CN036553	ORPHA	0	147	1257	6770	600993
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	SP110 CL E G H	3431	79124				ORPHA	0	12	187	5401	604457
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TMEM199 CL E G H	147007	616829	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp	616829	C4225190	OMIM	0	5	26	18085	616815
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TP53 CL E G H	7157	1333	Chromosome 19, ring		CN036553	ORPHA	0	541	2035	11998	191170
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	0	17	351	25751	614138
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TWNK CL E G H	56652	254892				ORPHA	0	83	194	1160	606075
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	TWNK CL E G H	56652	271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	271245	C1849096	OMIM	0	83	194	1160	606075
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	USP18 CL E G H	11274	617397	Pseudo-torch syndrome 2	617397	C4479376	OMIM	0	1	147	12616	607057
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	VPS13A CL E G H	23230	2388				ORPHA	0	116	506	1908	605978
HP:0002910	HP:0002910	Elevated hepatic transaminase	0	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	0	13	203	24249	610957
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	0	55	216	1839	607575
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	ALAS2 CL E G H	212	75563				ORPHA	0	103	227	397	301300
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	ALAS2 CL E G H	212	300752	Protoporphyria, erythropoietic, X-linked	300752	C2677889	OMIM	0	103	227	397	301300
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	ATRX CL E G H	546	100075				ORPHA	0	170	663	886	300032
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	BRCA1 CL E G H	672	1333	Chromosome 19, ring		CN036553	ORPHA	0	2824	11498	1100	113705
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	BRCA2 CL E G H	675	1333	Chromosome 19, ring		CN036553	ORPHA	0	3025	12706	1101	600185
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	0	7	32	1243	601269
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	CBS CL E G H	875	394				ORPHA	0	214	611	1550	613381
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	CCDC115 CL E G H	84317	616828	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo	616828	C4225191	OMIM	0	5	48	28178	613734
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	CDKN2A CL E G H	1029	1333	Chromosome 19, ring		CN036553	ORPHA	0	243	833	1787	600160
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	COG6 CL E G H	57511	614576	Congenital disorder of glycosylation type 2L	614576	C3553230	OMIM	0	10	189	18621	606977
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	CSPP1 CL E G H	79848	397715				ORPHA	0	27	257	26193	611654
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	DAXX CL E G H	1616	100075				ORPHA	0		18	2681	603186
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	DLD CL E G H	1738	246900	Maple syrup urine disease, type 3	246900	CN043137	OMIM	0	23	202	2898	238331
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	DOLK CL E G H	22845	91131				ORPHA	0	11	215	23406	610746
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	DPAGT1 CL E G H	1798	608093	Congenital disorder of glycosylation type 1J	608093	C2931004	OMIM	0	42	157	2995	191350
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	FAN1 CL E G H	22909	614817	Interstitial nephritis, karyomegalic	614817	C3553774	OMIM	0	21	273	29170	613534
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	FARSB CL E G H	10056	613658	Rajab syndrome	613658	C3150910	OMIM	0	4	38	17800	609690
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	0	48	434	13601	605654
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	GDF2 CL E G H	2658	615506	Telangiectasia, hereditary hemorrhagic, type 5	615506	C3809710	OMIM	0	17	168	4217	605120
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	GNAS CL E G H	2778	562				ORPHA	0	279	216	4392	139320
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	GYS2 CL E G H	2998	2089				ORPHA	0	23	195	4707	138571
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	HBB CL E G H	3043	231214				ORPHA	0	871	1009	4827	141900
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	HLA-B CL E G H	3106	36426				ORPHA	0	53	17	4932	142830
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	HNF1B CL E G H	6928	261265				ORPHA	0	240	488	11630	189907
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	HNF1B CL E G H	6928	93111				ORPHA	0	240	488	11630	189907
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	HNF4A CL E G H	3172	93111				ORPHA	0	157	283	5024	600281
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	IARS CL E G H	3376	617093	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	617093	C4310720	OMIM	0	15		5330	600709
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	IER3IP1 CL E G H	51124	614231	Microcephaly, epilepsy, and diabetes syndrome	614231	C3280240	OMIM	0	4	83	18550	609382
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	IKZF1 CL E G H	10320	36426				ORPHA	0	38	42	13176	603023
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	KIAA0586 CL E G H	9786	397715				ORPHA	0	31	155	19960	610178
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	KIF23 CL E G H	9493	98870				ORPHA	0	3	32	6392	605064
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	KRAS CL E G H	3845	1333	Chromosome 19, ring		CN036553	ORPHA	0	45	274	6407	190070
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	LHX1 CL E G H	3975	261265				ORPHA	0	7	115	6593	601999
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	0	23	234	17646	610661
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	OFD1 CL E G H	8481	2750				ORPHA	0	162	510	2567	300170
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	PALB2 CL E G H	79728	1333	Chromosome 19, ring		CN036553	ORPHA	0	417	3503	26144	610355
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	PALLD CL E G H	23022	1333	Chromosome 19, ring		CN036553	ORPHA	0	4	395	17068	608092
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	POLG CL E G H	5428	254892				ORPHA	0	300	1196	9179	174763
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	POLG2 CL E G H	11232	254892				ORPHA	0	14	101	9180	604983
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	POLG2 CL E G H	11232	610131	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	610131	C1864668	OMIM	0	14	101	9180	604983
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	PYGL CL E G H	5836	232700	Glycogen storage disease, type VI	232700	C0017925	OMIM	0	47	163	9725	613741
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	0	14	178	15864	610924
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	RRM2B CL E G H	50484	254892				ORPHA	0	43	216	17296	604712
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	6	182	10547	602286
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	SDHD CL E G H	6392	100093				ORPHA	0	174	361	10683	602690
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	SLC25A4 CL E G H	291	254892				ORPHA	0	17	234	10990	103220
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	SMAD4 CL E G H	4089	1333	Chromosome 19, ring		CN036553	ORPHA	0	147	1257	6770	600993
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	SP110 CL E G H	3431	79124				ORPHA	0	12	187	5401	604457
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	TMEM199 CL E G H	147007	616829	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp	616829	C4225190	OMIM	0	5	26	18085	616815
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	TP53 CL E G H	7157	1333	Chromosome 19, ring		CN036553	ORPHA	0	541	2035	11998	191170
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	0	17	351	25751	614138
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	TWNK CL E G H	56652	254892				ORPHA	0	83	194	1160	606075
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	TWNK CL E G H	56652	271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	271245	C1849096	OMIM	0	83	194	1160	606075
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	USP18 CL E G H	11274	617397	Pseudo-torch syndrome 2	617397	C4479376	OMIM	0	1	147	12616	607057
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	VPS13A CL E G H	23230	2388				ORPHA	0	116	506	1908	605978
HP:0002910	HP:0002910	Elevated hepatic transaminase	1	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	0	13	203	24249	610957