Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the liver (HP:0001392)help
Parent Node:
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Abnormal liver morphology (HP:0410042)help
..Starting node
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Elevated hepatic transaminase (HP:0002910)help
Term ID: 2910
Name: Elevated hepatic transaminase
Synonym: Abnormal liver enzymes; Abnormal liver function; Abnormal liver function tests; Elevated liver enzymes; Elevated liver function tests; Elevated serum transaminases; Elevated transaminases; High liver enzymes; Increased liver enzymes; Increased liver function tests; Increased transaminases; Raised liver enzymes; Subclinical abnormal liver function tests
Definition: Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Comments:
Reference: HP:0002910
Genes and Diseases:
 
       Child Nodes:
........expandElevated serum transaminases during infections (HP:0008150) help
........expandAbnormal liver function tests during pregnancy (HP:0200148) help

 Sister Nodes: 
..expandAbnormal hepatic glycogen storage (HP:0500030) help
..expandAbnormal hepatic iron concentration (HP:0040134) help
..expandAbnormal liver parenchyma morphology (HP:0030146) help
..expandAbnormality of the hepatic vasculature (HP:0006707) help
..expandCirrhosis (HP:0001394) help
..expandCystic liver disease (HP:0006706) help
..expandDecreased carnitine level in liver (HP:0045061) help
..expandDegenerative liver disease (HP:0005237) help
..expandDepletion of mitochondrial DNA in liver (HP:0006581) help
..expandEctopic liver (HP:0030722) help
..expandHepatic agenesis (HP:0100839) help
..expandHepatic amyloidosis (HP:0012280) help
..expandHepatic calcification (HP:0006559) help
..expandHepatic fibrosis (HP:0001395) help
..expandHepatic granulomatosis (HP:0011955) help
..expandHepatic necrosis (HP:0002605) help
..expandHepatitis (HP:0012115) help
..expandHepatomegaly (HP:0002240) help
..expandHepatosplenomegaly (HP:0001433) help
..expandLiver abscess (HP:0100523) help
..expandNodular regenerative hyperplasia of liver (HP:0011954) help
..expandStorage in hepatocytes (HP:0031137) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002910HP:0002910Elevated hepatic transaminase0ABCB4 CL E G H5244600803Cholecystitis600803C0008325OMIM142545171060
HP:0002910HP:0002910Elevated hepatic transaminase0ABCB4 CL E G H5244600803Cholecystitis600803C0008325OMIM141245171060
HP:0002910HP:0002910Elevated hepatic transaminase0ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM142545171060
HP:0002910HP:0002910Elevated hepatic transaminase0ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM141245171060
HP:0002910HP:0002910Elevated hepatic transaminase0ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM13767170995
HP:0002910HP:0002910Elevated hepatic transaminase0ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM12867170995
HP:0002910HP:0002910Elevated hepatic transaminase0ABHD5 CL E G H5109998907ORPHA118421396604780
HP:0002910HP:0002910Elevated hepatic transaminase0ABHD5 CL E G H5109998907ORPHA117321396604780
HP:0002910HP:0002910Elevated hepatic transaminase0ACAD9 CL E G H2897699901ORPHA147821497611103
HP:0002910HP:0002910Elevated hepatic transaminase0ACAD9 CL E G H2897699901ORPHA142721497611103
HP:0002910HP:0002910Elevated hepatic transaminase0ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM142721497611103
HP:0002910HP:0002910Elevated hepatic transaminase0ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM147821497611103
HP:0002910HP:0002910Elevated hepatic transaminase0ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM155989607008
HP:0002910HP:0002910Elevated hepatic transaminase0ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM149189607008
HP:0002910HP:0002910Elevated hepatic transaminase0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1435119609751
HP:0002910HP:0002910Elevated hepatic transaminase0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1388119609751
HP:0002910HP:0002910Elevated hepatic transaminase0ADAR CL E G H10351ORPHA1654225146920
HP:0002910HP:0002910Elevated hepatic transaminase0ADAR CL E G H10351ORPHA1471225146920
HP:0002910HP:0002910Elevated hepatic transaminase0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM173257102750
HP:0002910HP:0002910Elevated hepatic transaminase0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM179257102750
HP:0002910HP:0002910Elevated hepatic transaminase0AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11529321610860
HP:0002910HP:0002910Elevated hepatic transaminase0AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11299321610860
HP:0002910HP:0002910Elevated hepatic transaminase0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0002910HP:0002910Elevated hepatic transaminase0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0002910HP:0002910Elevated hepatic transaminase0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1205325603100
HP:0002910HP:0002910Elevated hepatic transaminase0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1203325603100
HP:0002910HP:0002910Elevated hepatic transaminase0AHCY CL E G H19188618ORPHA1126343180960
HP:0002910HP:0002910Elevated hepatic transaminase0AHCY CL E G H19188618ORPHA1113343180960
HP:0002910HP:0002910Elevated hepatic transaminase0AKR1D1 CL E G H671879303ORPHA1202388604741
HP:0002910HP:0002910Elevated hepatic transaminase0AKR1D1 CL E G H671879303ORPHA1206388604741
HP:0002910HP:0002910Elevated hepatic transaminase0AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM1206388604741
HP:0002910HP:0002910Elevated hepatic transaminase0AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM1202388604741
HP:0002910HP:0002910Elevated hepatic transaminase0ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1330417612724
HP:0002910HP:0002910Elevated hepatic transaminase0ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1316417612724
HP:0002910HP:0002910Elevated hepatic transaminase0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13342428606844
HP:0002910HP:0002910Elevated hepatic transaminase0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM12504428606844
HP:0002910HP:0002910Elevated hepatic transaminase0AMACR CL E G H23600214950Bile acid synthesis defect, congenital, 4214950C1858328OMIM1164451604489
HP:0002910HP:0002910Elevated hepatic transaminase0AMACR CL E G H23600214950Bile acid synthesis defect, congenital, 4214950C1858328OMIM1251451604489
HP:0002910HP:0002910Elevated hepatic transaminase0ATM CL E G H472100ORPHA111382795607585
HP:0002910HP:0002910Elevated hepatic transaminase0ATM CL E G H472100ORPHA110320795607585
HP:0002910HP:0002910Elevated hepatic transaminase0ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1291868300197
HP:0002910HP:0002910Elevated hepatic transaminase0ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1262868300197
HP:0002910HP:0002910Elevated hepatic transaminase0ATP7B CL E G H540905ORPHA11579870606882
HP:0002910HP:0002910Elevated hepatic transaminase0ATP7B CL E G H540905ORPHA11389870606882
HP:0002910HP:0002910Elevated hepatic transaminase0ATP8B1 CL E G H5205147480Cholestasis of pregnancy147480C0268318OMIM14963706602397
HP:0002910HP:0002910Elevated hepatic transaminase0ATP8B1 CL E G H5205147480Cholestasis of pregnancy147480C0268318OMIM14943706602397
HP:0002910HP:0002910Elevated hepatic transaminase0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12791020603647
HP:0002910HP:0002910Elevated hepatic transaminase0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12491020603647
HP:0002910HP:0002910Elevated hepatic transaminase0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0002910HP:0002910Elevated hepatic transaminase0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0002910HP:0002910Elevated hepatic transaminase0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM137315832606158
HP:0002910HP:0002910Elevated hepatic transaminase0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM133015832606158
HP:0002910HP:0002910Elevated hepatic transaminase0C8orf37 CL E G H157657617406Bardet-Biedl syndrome 21617406C4319932OMIM127232614477
HP:0002910HP:0002910Elevated hepatic transaminase0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1811527601047
HP:0002910HP:0002910Elevated hepatic transaminase0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1851527601047
HP:0002910HP:0002910Elevated hepatic transaminase0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11109688603198
HP:0002910HP:0002910Elevated hepatic transaminase0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11099688603198
HP:0002910HP:0002910Elevated hepatic transaminase0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0002910HP:0002910Elevated hepatic transaminase0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0002910HP:0002910Elevated hepatic transaminase0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1106429253612013
HP:0002910HP:0002910Elevated hepatic transaminase0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM188129253612013
HP:0002910HP:0002910Elevated hepatic transaminase0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1106429253612013
HP:0002910HP:0002910Elevated hepatic transaminase0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA188129253612013
HP:0002910HP:0002910Elevated hepatic transaminase0CD19 CL E G H9301572ORPHA12721633107265
HP:0002910HP:0002910Elevated hepatic transaminase0CD19 CL E G H9301572ORPHA12231633107265
HP:0002910HP:0002910Elevated hepatic transaminase0CD81 CL E G H9751572ORPHA11071701186845
HP:0002910HP:0002910Elevated hepatic transaminase0CD81 CL E G H9751572ORPHA1771701186845
HP:0002910HP:0002910Elevated hepatic transaminase0COG2 CL E G H22796617395CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq617395C4479353OMIM11596546606974
HP:0002910HP:0002910Elevated hepatic transaminase0COG2 CL E G H22796617395CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq617395C4479353OMIM11476546606974
HP:0002910HP:0002910Elevated hepatic transaminase0COG4 CL E G H25839263501ORPHA124718620606976
HP:0002910HP:0002910Elevated hepatic transaminase0COG4 CL E G H25839263501ORPHA122118620606976
HP:0002910HP:0002910Elevated hepatic transaminase0COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM122118620606976
HP:0002910HP:0002910Elevated hepatic transaminase0COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM124718620606976
HP:0002910HP:0002910Elevated hepatic transaminase0COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM121118622606978
HP:0002910HP:0002910Elevated hepatic transaminase0COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM125418622606978
HP:0002910HP:0002910Elevated hepatic transaminase0CPT1A CL E G H1374156ORPHA15032328600528
HP:0002910HP:0002910Elevated hepatic transaminase0CPT1A CL E G H1374156ORPHA14522328600528
HP:0002910HP:0002910Elevated hepatic transaminase0CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM15032328600528
HP:0002910HP:0002910Elevated hepatic transaminase0CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM14522328600528
HP:0002910HP:0002910Elevated hepatic transaminase0CPT2 CL E G H1376228308ORPHA16182330600650
HP:0002910HP:0002910Elevated hepatic transaminase0CPT2 CL E G H1376228308ORPHA15052330600650
HP:0002910HP:0002910Elevated hepatic transaminase0CPT2 CL E G H1376600649Carnitine palmitoyltransferase II deficiency, infantile600649C1833511OMIM16182330600650
HP:0002910HP:0002910Elevated hepatic transaminase0CPT2 CL E G H1376600649Carnitine palmitoyltransferase II deficiency, infantile600649C1833511OMIM15052330600650
HP:0002910HP:0002910Elevated hepatic transaminase0CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM15052330600650
HP:0002910HP:0002910Elevated hepatic transaminase0CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM16182330600650
HP:0002910HP:0002910Elevated hepatic transaminase0CR2 CL E G H13801572ORPHA14532336120650
HP:0002910HP:0002910Elevated hepatic transaminase0CR2 CL E G H13801572ORPHA13582336120650
HP:0002910HP:0002910Elevated hepatic transaminase0CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM11002579123980
HP:0002910HP:0002910Elevated hepatic transaminase0CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM1942579123980
HP:0002910HP:0002910Elevated hepatic transaminase0CYP7B1 CL E G H942079302ORPHA12952652603711
HP:0002910HP:0002910Elevated hepatic transaminase0CYP7B1 CL E G H942079302ORPHA12392652603711
HP:0002910HP:0002910Elevated hepatic transaminase0CYP7B1 CL E G H9420613812Bile acid synthesis defect, congenital, 3613812C3151147OMIM12952652603711
HP:0002910HP:0002910Elevated hepatic transaminase0CYP7B1 CL E G H9420613812Bile acid synthesis defect, congenital, 3613812C3151147OMIM12392652603711
HP:0002910HP:0002910Elevated hepatic transaminase0DCDC2 CL E G H51473617394Sclerosing cholangitis, neonatal617394C4479344OMIM118718141605755
HP:0002910HP:0002910Elevated hepatic transaminase0DCDC2 CL E G H51473617394Sclerosing cholangitis, neonatal617394C4479344OMIM117218141605755
HP:0002910HP:0002910Elevated hepatic transaminase0DDOST CL E G H1650300536ORPHA11792728602202
HP:0002910HP:0002910Elevated hepatic transaminase0DDOST CL E G H1650300536ORPHA11542728602202
HP:0002910HP:0002910Elevated hepatic transaminase0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11562858601465
HP:0002910HP:0002910Elevated hepatic transaminase0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11402858601465
HP:0002910HP:0002910Elevated hepatic transaminase0DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM119920603608172
HP:0002910HP:0002910Elevated hepatic transaminase0DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM125620603608172
HP:0002910HP:0002910Elevated hepatic transaminase0DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA13552898238331
HP:0002910HP:0002910Elevated hepatic transaminase0DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA13292898238331
HP:0002910HP:0002910Elevated hepatic transaminase0DMD CL E G H175698895ORPHA156012928300377
HP:0002910HP:0002910Elevated hepatic transaminase0DMD CL E G H175698895ORPHA163952928300377
HP:0002910HP:0002910Elevated hepatic transaminase0DNAJC19 CL E G H13111866634ORPHA17830528608977
HP:0002910HP:0002910Elevated hepatic transaminase0DNAJC19 CL E G H13111866634ORPHA19530528608977
HP:0002910HP:0002910Elevated hepatic transaminase0DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM118727030617048
HP:0002910HP:0002910Elevated hepatic transaminase0DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM19127030617048
HP:0002910HP:0002910Elevated hepatic transaminase0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM11883005603503
HP:0002910HP:0002910Elevated hepatic transaminase0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM11563005603503
HP:0002910HP:0002910Elevated hepatic transaminase0DPM2 CL E G H8818615042Congenital disorder of glycosylation type 1u615042C3554385OMIM11233006603564
HP:0002910HP:0002910Elevated hepatic transaminase0DPM2 CL E G H8818615042Congenital disorder of glycosylation type 1u615042C3554385OMIM11133006603564
HP:0002910HP:0002910Elevated hepatic transaminase0DPM3 CL E G H54344263494ORPHA1593007605951
HP:0002910HP:0002910Elevated hepatic transaminase0DPM3 CL E G H54344263494ORPHA1503007605951
HP:0002910HP:0002910Elevated hepatic transaminase0DPM3 CL E G H54344612937Congenital disorder of glycosylation type 1O612937C2752007OMIM1503007605951
HP:0002910HP:0002910Elevated hepatic transaminase0DPM3 CL E G H54344612937Congenital disorder of glycosylation type 1O612937C2752007OMIM1593007605951
HP:0002910HP:0002910Elevated hepatic transaminase0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA12963255604032
HP:0002910HP:0002910Elevated hepatic transaminase0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA11783255604032
HP:0002910HP:0002910Elevated hepatic transaminase0ERCC4 CL E G H2072610965XFE progeroid syndrome610965C1970416OMIM15383436133520
HP:0002910HP:0002910Elevated hepatic transaminase0ERCC4 CL E G H2072610965XFE progeroid syndrome610965C1970416OMIM14693436133520
HP:0002910HP:0002910Elevated hepatic transaminase0F5 CL E G H2153131Myeloid sarcomaORPHA14533542612309
HP:0002910HP:0002910Elevated hepatic transaminase0F5 CL E G H2153131Myeloid sarcomaORPHA14493542612309
HP:0002910HP:0002910Elevated hepatic transaminase0FAH CL E G H2184276700Tyrosinemia type I276700C0268490OMIM14413579613871
HP:0002910HP:0002910Elevated hepatic transaminase0FAH CL E G H2184276700Tyrosinemia type I276700C0268490OMIM14173579613871
HP:0002910HP:0002910Elevated hepatic transaminase0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1293796164810
HP:0002910HP:0002910Elevated hepatic transaminase0G6PC CL E G H2538232200Glycogen storage disease type 1A232200C2919796OMIM14056613742
HP:0002910HP:0002910Elevated hepatic transaminase0GLRX5 CL E G H51218616860Sideroblastic anemia 3, pyridoxine-refractory616860C4225155OMIM16820134609588
HP:0002910HP:0002910Elevated hepatic transaminase0GLRX5 CL E G H51218616860Sideroblastic anemia 3, pyridoxine-refractory616860C4225155OMIM16020134609588
HP:0002910HP:0002910Elevated hepatic transaminase0GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0002910HP:0002910Elevated hepatic transaminase0GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0002910HP:0002910Elevated hepatic transaminase0GNMT CL E G H27232606664Glycine N-methyltransferase deficiency606664C1847720OMIM1604415606628
HP:0002910HP:0002910Elevated hepatic transaminase0GNMT CL E G H27232606664Glycine N-methyltransferase deficiency606664C1847720OMIM1444415606628
HP:0002910HP:0002910Elevated hepatic transaminase0GPD1 CL E G H2819614480Hypertriglyceridemia, transient infantile614480C3280953OMIM1694455138420
HP:0002910HP:0002910Elevated hepatic transaminase0GPD1 CL E G H2819614480Hypertriglyceridemia, transient infantile614480C3280953OMIM1524455138420
HP:0002910HP:0002910Elevated hepatic transaminase0GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA11224492602646
HP:0002910HP:0002910Elevated hepatic transaminase0GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA11154492602646
HP:0002910HP:0002910Elevated hepatic transaminase0HADH CL E G H303371212ORPHA11564799601609
HP:0002910HP:0002910Elevated hepatic transaminase0HADH CL E G H303371212ORPHA11374799601609
HP:0002910HP:0002910Elevated hepatic transaminase0HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM15274801600890
HP:0002910HP:0002910Elevated hepatic transaminase0HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM14774801600890
HP:0002910HP:0002910Elevated hepatic transaminase0HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM12134803143450
HP:0002910HP:0002910Elevated hepatic transaminase0HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM12424803143450
HP:0002910HP:0002910Elevated hepatic transaminase0HAMP CL E G H5781779230ORPHA15215598606464
HP:0002910HP:0002910Elevated hepatic transaminase0HAMP CL E G H5781779230ORPHA16115598606464
HP:0002910HP:0002910Elevated hepatic transaminase0HAMP CL E G H57817613313Hemochromatosis type 2B613313C1865616OMIM15215598606464
HP:0002910HP:0002910Elevated hepatic transaminase0HAMP CL E G H57817613313Hemochromatosis type 2B613313C1865616OMIM16115598606464
HP:0002910HP:0002910Elevated hepatic transaminase0HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM11574886613609
HP:0002910HP:0002910Elevated hepatic transaminase0HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM11494886613609
HP:0002910HP:0002910Elevated hepatic transaminase0HJV CL E G H14873879230ORPHA13694887608374
HP:0002910HP:0002910Elevated hepatic transaminase0HJV CL E G H14873879230ORPHA13384887608374
HP:0002910HP:0002910Elevated hepatic transaminase0HNF1A CL E G H6927324575ORPHA152911621142410
HP:0002910HP:0002910Elevated hepatic transaminase0HNF1A CL E G H6927324575ORPHA145211621142410
HP:0002910HP:0002910Elevated hepatic transaminase0HNF1B CL E G H6928137920Familial hypoplastic, glomerulocystic kidney137920C0431693OMIM154511630189907
HP:0002910HP:0002910Elevated hepatic transaminase0HNF1B CL E G H6928137920Familial hypoplastic, glomerulocystic kidney137920C0431693OMIM157911630189907
HP:0002910HP:0002910Elevated hepatic transaminase0HNF4A CL E G H3172263455Hyperinsulinism due to HNF4A deficiencyCN202290ORPHA14035024600281
HP:0002910HP:0002910Elevated hepatic transaminase0HNF4A CL E G H3172263455Hyperinsulinism due to HNF4A deficiencyCN202290ORPHA13635024600281
HP:0002910HP:0002910Elevated hepatic transaminase0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM16395213601860
HP:0002910HP:0002910Elevated hepatic transaminase0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM15605213601860
HP:0002910HP:0002910Elevated hepatic transaminase0HSD3B7 CL E G H8027079301ORPHA110218324607764
HP:0002910HP:0002910Elevated hepatic transaminase0HSD3B7 CL E G H8027079301ORPHA110918324607764
HP:0002910HP:0002910Elevated hepatic transaminase0HSD3B7 CL E G H80270607765Bile acid synthesis defect, congenital, 1607765C1843116OMIM110918324607764
HP:0002910HP:0002910Elevated hepatic transaminase0HSD3B7 CL E G H80270607765Bile acid synthesis defect, congenital, 1607765C1843116OMIM110218324607764
HP:0002910HP:0002910Elevated hepatic transaminase0ICOS CL E G H298511572ORPHA11545351604558
HP:0002910HP:0002910Elevated hepatic transaminase0ICOS CL E G H298511572ORPHA11375351604558
HP:0002910HP:0002910Elevated hepatic transaminase0IFIH1 CL E G H6413551ORPHA171818873606951
HP:0002910HP:0002910Elevated hepatic transaminase0IFIH1 CL E G H6413551ORPHA147618873606951
HP:0002910HP:0002910Elevated hepatic transaminase0IFT172 CL E G H26160616394Retinitis pigmentosa 71616394C4225342OMIM180530391607386
HP:0002910HP:0002910Elevated hepatic transaminase0IFT172 CL E G H26160616394Retinitis pigmentosa 71616394C4225342OMIM158730391607386
HP:0002910HP:0002910Elevated hepatic transaminase0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA155921474613037
HP:0002910HP:0002910Elevated hepatic transaminase0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA146621474613037
HP:0002910HP:0002910Elevated hepatic transaminase0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM19066188601920
HP:0002910HP:0002910Elevated hepatic transaminase0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM110686188601920
HP:0002910HP:0002910Elevated hepatic transaminase0JAK2 CL E G H3717131Myeloid sarcomaORPHA12736192147796
HP:0002910HP:0002910Elevated hepatic transaminase0JAK2 CL E G H3717131Myeloid sarcomaORPHA12646192147796
HP:0002910HP:0002910Elevated hepatic transaminase0LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM16512151350
HP:0002910HP:0002910Elevated hepatic transaminase0LBR CL E G H3930613471Reynolds syndrome613471C0748397OMIM12566518600024
HP:0002910HP:0002910Elevated hepatic transaminase0LBR CL E G H3930613471Reynolds syndrome613471C0748397OMIM12256518600024
HP:0002910HP:0002910Elevated hepatic transaminase0LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM19029569610284
HP:0002910HP:0002910Elevated hepatic transaminase0LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM17329569610284
HP:0002910HP:0002910Elevated hepatic transaminase0MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM16898156560
HP:0002910HP:0002910Elevated hepatic transaminase0MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM11707224137960
HP:0002910HP:0002910Elevated hepatic transaminase0MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM11557224137960
HP:0002910HP:0002910Elevated hepatic transaminase0MRPL3 CL E G H11222614582Combined oxidative phosphorylation deficiency 9614582C3281234OMIM17910379607118
HP:0002910HP:0002910Elevated hepatic transaminase0MRPL3 CL E G H11222614582Combined oxidative phosphorylation deficiency 9614582C3281234OMIM17410379607118
HP:0002910HP:0002910Elevated hepatic transaminase0MRPL44 CL E G H65080615395Combined oxidative phosphorylation deficiency 16615395C3809339OMIM110016650611849
HP:0002910HP:0002910Elevated hepatic transaminase0MRPL44 CL E G H65080615395Combined oxidative phosphorylation deficiency 16615395C3809339OMIM18016650611849
HP:0002910HP:0002910Elevated hepatic transaminase0MRPS16 CL E G H51021610498Combined oxidative phosphorylation deficiency 2610498C1864843OMIM16914048609204
HP:0002910HP:0002910Elevated hepatic transaminase0MRPS16 CL E G H51021610498Combined oxidative phosphorylation deficiency 2610498C1864843OMIM16014048609204
HP:0002910HP:0002910Elevated hepatic transaminase0MS4A1 CL E G H9311572ORPHA1627315112210
HP:0002910HP:0002910Elevated hepatic transaminase0MS4A1 CL E G H9311572ORPHA1287315112210
HP:0002910HP:0002910Elevated hepatic transaminase0MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA1177380142408
HP:0002910HP:0002910Elevated hepatic transaminase0MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA1167380142408
HP:0002910HP:0002910Elevated hepatic transaminase0MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM13717530251170
HP:0002910HP:0002910Elevated hepatic transaminase0MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM14017530251170
HP:0002910HP:0002910Elevated hepatic transaminase0NBAS CL E G H51594616483Infantile liver failure syndrome 2616483C3809651OMIM191515625608025
HP:0002910HP:0002910Elevated hepatic transaminase0NBAS CL E G H51594616483Infantile liver failure syndrome 2616483C3809651OMIM136715625608025
HP:0002910HP:0002910Elevated hepatic transaminase0NFKB1 CL E G H47901572ORPHA12667794164011
HP:0002910HP:0002910Elevated hepatic transaminase0NFKB1 CL E G H47901572ORPHA11717794164011
HP:0002910HP:0002910Elevated hepatic transaminase0NFKB2 CL E G H47911572ORPHA13177795164012
HP:0002910HP:0002910Elevated hepatic transaminase0NFKB2 CL E G H47911572ORPHA12487795164012
HP:0002910HP:0002910Elevated hepatic transaminase0NR1H4 CL E G H9971617049Cholestasis, progressive familial intrahepatic, 5617049C4310747OMIM1837967603826
HP:0002910HP:0002910Elevated hepatic transaminase0NR1H4 CL E G H9971617049Cholestasis, progressive familial intrahepatic, 5617049C4310747OMIM1817967603826
HP:0002910HP:0002910Elevated hepatic transaminase0OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM1968104602876
HP:0002910HP:0002910Elevated hepatic transaminase0OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM1888104602876
HP:0002910HP:0002910Elevated hepatic transaminase0PEX13 CL E G H5194614883Peroxisome biogenesis disorder 11A614883C3554000OMIM12348855601789
HP:0002910HP:0002910Elevated hepatic transaminase0PEX13 CL E G H5194614883Peroxisome biogenesis disorder 11A614883C3554000OMIM13428855601789
HP:0002910HP:0002910Elevated hepatic transaminase0PEX19 CL E G H5824614886Peroxisome biogenesis disorder 12A614886C3554002OMIM12499713600279
HP:0002910HP:0002910Elevated hepatic transaminase0PEX19 CL E G H5824614886Peroxisome biogenesis disorder 12A614886C3554002OMIM11819713600279
HP:0002910HP:0002910Elevated hepatic transaminase0PGM1 CL E G H5236614921Congenital disorder of glycosylation type 1t614921C2752015OMIM12328905171900
HP:0002910HP:0002910Elevated hepatic transaminase0PGM1 CL E G H5236614921Congenital disorder of glycosylation type 1t614921C2752015OMIM12608905171900
HP:0002910HP:0002910Elevated hepatic transaminase0PHKA2 CL E G H5256306000Glycogen storage disease type IXa1306000C0017927OMIM14658926300798
HP:0002910HP:0002910Elevated hepatic transaminase0PHKA2 CL E G H5256306000Glycogen storage disease type IXa1306000C0017927OMIM14298926300798
HP:0002910HP:0002910Elevated hepatic transaminase0PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM11568931172471
HP:0002910HP:0002910Elevated hepatic transaminase0PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM11488931172471
HP:0002910HP:0002910Elevated hepatic transaminase0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM15429115601785
HP:0002910HP:0002910Elevated hepatic transaminase0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM14919115601785
HP:0002910HP:0002910Elevated hepatic transaminase0PNPLA2 CL E G H5710498908ORPHA133430802609059
HP:0002910HP:0002910Elevated hepatic transaminase0PNPLA2 CL E G H5710498908ORPHA139130802609059
HP:0002910HP:0002910Elevated hepatic transaminase0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM133430802609059
HP:0002910HP:0002910Elevated hepatic transaminase0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM139130802609059
HP:0002910HP:0002910Elevated hepatic transaminase0POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM131249175174761
HP:0002910HP:0002910Elevated hepatic transaminase0POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM127829175174761
HP:0002910HP:0002910Elevated hepatic transaminase0POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0002910HP:0002910Elevated hepatic transaminase0POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0002910HP:0002910Elevated hepatic transaminase0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM114709179174763
HP:0002910HP:0002910Elevated hepatic transaminase0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM117129179174763
HP:0002910HP:0002910Elevated hepatic transaminase0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11249236601487
HP:0002910HP:0002910Elevated hepatic transaminase0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11089236601487
HP:0002910HP:0002910Elevated hepatic transaminase0PRKCD CL E G H55801572ORPHA12779399176977
HP:0002910HP:0002910Elevated hepatic transaminase0PRKCD CL E G H55801572ORPHA12259399176977
HP:0002910HP:0002910Elevated hepatic transaminase0PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1849541602177
HP:0002910HP:0002910Elevated hepatic transaminase0PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1329541602177
HP:0002910HP:0002910Elevated hepatic transaminase0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11369545177046
HP:0002910HP:0002910Elevated hepatic transaminase0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11219545177046
HP:0002910HP:0002910Elevated hepatic transaminase0PSMB9 CL E G H5698617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1149546177045
HP:0002910HP:0002910Elevated hepatic transaminase0RNASEH2A CL E G H1053551ORPHA125918518606034
HP:0002910HP:0002910Elevated hepatic transaminase0RNASEH2A CL E G H1053551ORPHA118618518606034
HP:0002910HP:0002910Elevated hepatic transaminase0RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM125918518606034
HP:0002910HP:0002910Elevated hepatic transaminase0RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM118618518606034
HP:0002910HP:0002910Elevated hepatic transaminase0RNASEH2B CL E G H7962151ORPHA127225671610326
HP:0002910HP:0002910Elevated hepatic transaminase0RNASEH2B CL E G H7962151ORPHA119725671610326
HP:0002910HP:0002910Elevated hepatic transaminase0RNASEH2C CL E G H8415351ORPHA119124116610330
HP:0002910HP:0002910Elevated hepatic transaminase0RNASEH2C CL E G H8415351ORPHA114724116610330
HP:0002910HP:0002910Elevated hepatic transaminase0RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM114724116610330
HP:0002910HP:0002910Elevated hepatic transaminase0RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM119124116610330
HP:0002910HP:0002910Elevated hepatic transaminase0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM179429168610937
HP:0002910HP:0002910Elevated hepatic transaminase0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM196429168610937
HP:0002910HP:0002910Elevated hepatic transaminase0RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA196429168610937
HP:0002910HP:0002910Elevated hepatic transaminase0RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA179429168610937
HP:0002910HP:0002910Elevated hepatic transaminase0RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA127217296604712
HP:0002910HP:0002910Elevated hepatic transaminase0RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA126117296604712
HP:0002910HP:0002910Elevated hepatic transaminase0SAMHD1 CL E G H2593951ORPHA145415925606754
HP:0002910HP:0002910Elevated hepatic transaminase0SAMHD1 CL E G H2593951ORPHA132915925606754
HP:0002910HP:0002910Elevated hepatic transaminase0SAR1B CL E G H5112871Human granulocytic ehrlichiosisORPHA18210535607690
HP:0002910HP:0002910Elevated hepatic transaminase0SAR1B CL E G H5112871Human granulocytic ehrlichiosisORPHA15810535607690
HP:0002910HP:0002910Elevated hepatic transaminase0SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM18919440607444
HP:0002910HP:0002910Elevated hepatic transaminase0SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM18219440607444
HP:0002910HP:0002910Elevated hepatic transaminase0SERPINA1 CL E G H5265613490Alpha-1-antitrypsin deficiency613490C0221757OMIM13338941107400
HP:0002910HP:0002910Elevated hepatic transaminase0SERPINA1 CL E G H5265613490Alpha-1-antitrypsin deficiency613490C0221757OMIM13258941107400
HP:0002910HP:0002910Elevated hepatic transaminase0SLC22A5 CL E G H6584158ORPHA173310969603377
HP:0002910HP:0002910Elevated hepatic transaminase0SLC22A5 CL E G H6584158ORPHA162610969603377
HP:0002910HP:0002910Elevated hepatic transaminase0SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM173310969603377
HP:0002910HP:0002910Elevated hepatic transaminase0SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM162610969603377
HP:0002910HP:0002910Elevated hepatic transaminase0SLC25A13 CL E G H10165603471Citrullinemia type II603471C1863844OMIM145110983603859
HP:0002910HP:0002910Elevated hepatic transaminase0SLC25A13 CL E G H10165603471Citrullinemia type II603471C1863844OMIM139310983603859
HP:0002910HP:0002910Elevated hepatic transaminase0SLC25A20 CL E G H788159ORPHA11341421613698
HP:0002910HP:0002910Elevated hepatic transaminase0SLC25A20 CL E G H788159ORPHA11181421613698
HP:0002910HP:0002910Elevated hepatic transaminase0SLC25A20 CL E G H788212138Carnitine acylcarnitine translocase deficiency212138C0342791OMIM11181421613698
HP:0002910HP:0002910Elevated hepatic transaminase0SLC25A20 CL E G H788212138Carnitine acylcarnitine translocase deficiency212138C0342791OMIM11341421613698
HP:0002910HP:0002910Elevated hepatic transaminase0SLC30A10 CL E G H55532309854ORPHA116725355611146
HP:0002910HP:0002910Elevated hepatic transaminase0SLC30A10 CL E G H55532309854ORPHA113925355611146
HP:0002910HP:0002910Elevated hepatic transaminase0SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM116725355611146
HP:0002910HP:0002910Elevated hepatic transaminase0SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM113925355611146
HP:0002910HP:0002910Elevated hepatic transaminase0SLC37A4 CL E G H2542232220Glucose-6-phosphate transport defect232220C0268146OMIM17684061602671
HP:0002910HP:0002910Elevated hepatic transaminase0SLC37A4 CL E G H2542232220Glucose-6-phosphate transport defect232220C0268146OMIM17204061602671
HP:0002910HP:0002910Elevated hepatic transaminase0SRD5A3 CL E G H79644612379Congenital disorder of glycosylation type 1Q612379C3150191OMIM118925812611715
HP:0002910HP:0002910Elevated hepatic transaminase0SRD5A3 CL E G H79644612379Congenital disorder of glycosylation type 1Q612379C3150191OMIM117325812611715
HP:0002910HP:0002910Elevated hepatic transaminase0SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM19711301604857
HP:0002910HP:0002910Elevated hepatic transaminase0SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM17111301604857
HP:0002910HP:0002910Elevated hepatic transaminase0STEAP3 CL E G H55240300298ORPHA14124592609671
HP:0002910HP:0002910Elevated hepatic transaminase0STEAP3 CL E G H55240300298ORPHA13724592609671
HP:0002910HP:0002910Elevated hepatic transaminase0TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM155025439616830
HP:0002910HP:0002910Elevated hepatic transaminase0TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM148025439616830
HP:0002910HP:0002910Elevated hepatic transaminase0TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA181211634602272
HP:0002910HP:0002910Elevated hepatic transaminase0TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA175611634602272
HP:0002910HP:0002910Elevated hepatic transaminase0TFAM CL E G H7019617156Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)617156C4310690OMIM15411741600438
HP:0002910HP:0002910Elevated hepatic transaminase0TFR2 CL E G H7036604250Hemochromatosis type 3604250C1858664OMIM143611762604720
HP:0002910HP:0002910Elevated hepatic transaminase0TFR2 CL E G H7036604250Hemochromatosis type 3604250C1858664OMIM140911762604720
HP:0002910HP:0002910Elevated hepatic transaminase0TMEM165 CL E G H55858614727Congenital disorder of glycosylation type 2k614727C3553571OMIM19130760614726
HP:0002910HP:0002910Elevated hepatic transaminase0TMEM165 CL E G H55858614727Congenital disorder of glycosylation type 2k614727C3553571OMIM110830760614726
HP:0002910HP:0002910Elevated hepatic transaminase0TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM156928396609884
HP:0002910HP:0002910Elevated hepatic transaminase0TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM140228396609884
HP:0002910HP:0002910Elevated hepatic transaminase0TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA156928396609884
HP:0002910HP:0002910Elevated hepatic transaminase0TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA140228396609884
HP:0002910HP:0002910Elevated hepatic transaminase0TNFRSF13B CL E G H234951572ORPHA132218153604907
HP:0002910HP:0002910Elevated hepatic transaminase0TNFRSF13B CL E G H234951572ORPHA128418153604907
HP:0002910HP:0002910Elevated hepatic transaminase0TNFRSF13C CL E G H1156501572ORPHA112517755606269
HP:0002910HP:0002910Elevated hepatic transaminase0TNFRSF13C CL E G H1156501572ORPHA110117755606269
HP:0002910HP:0002910Elevated hepatic transaminase0TNFSF12 CL E G H87421572ORPHA113111927602695
HP:0002910HP:0002910Elevated hepatic transaminase0TNFSF12 CL E G H87421572ORPHA19411927602695
HP:0002910HP:0002910Elevated hepatic transaminase0TRAPPC11 CL E G H60684369840ORPHA167325751614138
HP:0002910HP:0002910Elevated hepatic transaminase0TRAPPC11 CL E G H60684369840ORPHA157325751614138
HP:0002910HP:0002910Elevated hepatic transaminase0TREX1 CL E G H1127751ORPHA128912269606609
HP:0002910HP:0002910Elevated hepatic transaminase0TREX1 CL E G H1127751ORPHA119812269606609
HP:0002910HP:0002910Elevated hepatic transaminase0TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM119812269606609
HP:0002910HP:0002910Elevated hepatic transaminase0TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM128912269606609
HP:0002910HP:0002910Elevated hepatic transaminase0TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM119812269606609
HP:0002910HP:0002910Elevated hepatic transaminase0TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM128912269606609
HP:0002910HP:0002910Elevated hepatic transaminase0TRMT10C CL E G H54931616974Combined oxidative phosphorylation deficiency 30616974C4310773OMIM12726022615423
HP:0002910HP:0002910Elevated hepatic transaminase0TRMT10C CL E G H54931616974Combined oxidative phosphorylation deficiency 30616974C4310773OMIM12126022615423
HP:0002910HP:0002910Elevated hepatic transaminase0TRMU CL E G H55687613070Liver failure acute infantile613070C3278664OMIM143125481610230
HP:0002910HP:0002910Elevated hepatic transaminase0TRMU CL E G H55687613070Liver failure acute infantile613070C3278664OMIM144825481610230
HP:0002910HP:0002910Elevated hepatic transaminase0TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA16653148131222
HP:0002910HP:0002910Elevated hepatic transaminase0TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA15503148131222
HP:0002910HP:0002910Elevated hepatic transaminase0UQCRC2 CL E G H7385615160Mitochondrial complex III deficiency, nuclear type 5615160C3554608OMIM116112586191329
HP:0002910HP:0002910Elevated hepatic transaminase0UQCRC2 CL E G H7385615160Mitochondrial complex III deficiency, nuclear type 5615160C3554608OMIM117912586191329
HP:0002910HP:0002910Elevated hepatic transaminase0VIPAS39 CL E G H63894613404Arthrogryposis, renal dysfunction, and cholestasis 2613404C3150672OMIM116020347613401
HP:0002910HP:0002910Elevated hepatic transaminase0VIPAS39 CL E G H63894613404Arthrogryposis, renal dysfunction, and cholestasis 2613404C3150672OMIM116120347613401
HP:0002910HP:0002910Elevated hepatic transaminase0VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM126312712608552
HP:0002910HP:0002910Elevated hepatic transaminase0VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM127212712608552
HP:0002910HP:0002910Elevated hepatic transaminase0WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM147429250613602
HP:0002910HP:0002910Elevated hepatic transaminase0WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM140129250613602
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ABCB4 CL E G H5244600803Cholecystitis600803C0008325OMIM142545171060
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ABCB4 CL E G H5244600803Cholecystitis600803C0008325OMIM142545171060
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ABCB4 CL E G H5244600803Cholecystitis600803C0008325OMIM141245171060
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ABCB4 CL E G H5244600803Cholecystitis600803C0008325OMIM141245171060
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ABCB4 CL E G H5244600803Cholecystitis600803C0008325OMIM142545171060
HP:0002910HP:0008150Elevated serum transaminases during infections1ABCB4 CL E G H5244600803Cholecystitis600803C0008325OMIM142545171060
HP:0002910HP:0008150Elevated serum transaminases during infections1ABCB4 CL E G H5244600803Cholecystitis600803C0008325OMIM141245171060
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ABCB4 CL E G H5244600803Cholecystitis600803C0008325OMIM141245171060
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM142545171060
HP:0002910HP:0008150Elevated serum transaminases during infections1ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM142545171060
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM141245171060
HP:0002910HP:0008150Elevated serum transaminases during infections1ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM141245171060
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM142545171060
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM142545171060
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM141245171060
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM141245171060
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM13767170995
HP:0002910HP:0008150Elevated serum transaminases during infections1ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM13767170995
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM12867170995
HP:0002910HP:0008150Elevated serum transaminases during infections1ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM12867170995
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM13767170995
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM13767170995
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM12867170995
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM12867170995
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ABHD5 CL E G H5109998907ORPHA117321396604780
HP:0002910HP:0008150Elevated serum transaminases during infections1ABHD5 CL E G H5109998907ORPHA117321396604780
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ABHD5 CL E G H5109998907ORPHA118421396604780
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ABHD5 CL E G H5109998907ORPHA118421396604780
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ABHD5 CL E G H5109998907ORPHA117321396604780
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ABHD5 CL E G H5109998907ORPHA117321396604780
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ABHD5 CL E G H5109998907ORPHA118421396604780
HP:0002910HP:0008150Elevated serum transaminases during infections1ABHD5 CL E G H5109998907ORPHA118421396604780
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ACAD9 CL E G H2897699901ORPHA142721497611103
HP:0002910HP:0008150Elevated serum transaminases during infections1ACAD9 CL E G H2897699901ORPHA142721497611103
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ACAD9 CL E G H2897699901ORPHA147821497611103
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ACAD9 CL E G H2897699901ORPHA147821497611103
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ACAD9 CL E G H2897699901ORPHA142721497611103
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ACAD9 CL E G H2897699901ORPHA142721497611103
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ACAD9 CL E G H2897699901ORPHA147821497611103
HP:0002910HP:0008150Elevated serum transaminases during infections1ACAD9 CL E G H2897699901ORPHA147821497611103
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM142721497611103
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM142721497611103
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM147821497611103
HP:0002910HP:0008150Elevated serum transaminases during infections1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM147821497611103
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM142721497611103
HP:0002910HP:0008150Elevated serum transaminases during infections1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM142721497611103
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM147821497611103
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM147821497611103
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM149189607008
HP:0002910HP:0008150Elevated serum transaminases during infections1ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM149189607008
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM155989607008
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM155989607008
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM149189607008
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM149189607008
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM155989607008
HP:0002910HP:0008150Elevated serum transaminases during infections1ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM155989607008
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1435119609751
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1435119609751
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1388119609751
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1388119609751
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1435119609751
HP:0002910HP:0008150Elevated serum transaminases during infections1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1435119609751
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1388119609751
HP:0002910HP:0008150Elevated serum transaminases during infections1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1388119609751
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ADAR CL E G H10351ORPHA1654225146920
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ADAR CL E G H10351ORPHA1654225146920
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ADAR CL E G H10351ORPHA1471225146920
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ADAR CL E G H10351ORPHA1471225146920
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ADAR CL E G H10351ORPHA1654225146920
HP:0002910HP:0008150Elevated serum transaminases during infections1ADAR CL E G H10351ORPHA1654225146920
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ADAR CL E G H10351ORPHA1471225146920
HP:0002910HP:0008150Elevated serum transaminases during infections1ADAR CL E G H10351ORPHA1471225146920
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM173257102750
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM173257102750
HP:0002910HP:0008150Elevated serum transaminases during infections1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM179257102750
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM179257102750
HP:0002910HP:0008150Elevated serum transaminases during infections1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM173257102750
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM173257102750
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM179257102750
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM179257102750
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11529321610860
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11529321610860
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11299321610860
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11299321610860
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11529321610860
HP:0002910HP:0008150Elevated serum transaminases during infections1AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11529321610860
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11299321610860
HP:0002910HP:0008150Elevated serum transaminases during infections1AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11299321610860
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0002910HP:0008150Elevated serum transaminases during infections1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0002910HP:0008150Elevated serum transaminases during infections1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1203325603100
HP:0002910HP:0008150Elevated serum transaminases during infections1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1203325603100
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1205325603100
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1205325603100
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1203325603100
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1203325603100
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1205325603100
HP:0002910HP:0008150Elevated serum transaminases during infections1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1205325603100
HP:0002910HP:0008150Elevated serum transaminases during infections1AHCY CL E G H19188618ORPHA1113343180960
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1AHCY CL E G H19188618ORPHA1113343180960
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1AHCY CL E G H19188618ORPHA1126343180960
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1AHCY CL E G H19188618ORPHA1126343180960
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1AHCY CL E G H19188618ORPHA1113343180960
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1AHCY CL E G H19188618ORPHA1113343180960
HP:0002910HP:0008150Elevated serum transaminases during infections1AHCY CL E G H19188618ORPHA1126343180960
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1AHCY CL E G H19188618ORPHA1126343180960
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1AKR1D1 CL E G H671879303ORPHA1202388604741
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1AKR1D1 CL E G H671879303ORPHA1202388604741
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1AKR1D1 CL E G H671879303ORPHA1206388604741
HP:0002910HP:0008150Elevated serum transaminases during infections1AKR1D1 CL E G H671879303ORPHA1206388604741
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1AKR1D1 CL E G H671879303ORPHA1202388604741
HP:0002910HP:0008150Elevated serum transaminases during infections1AKR1D1 CL E G H671879303ORPHA1202388604741
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1AKR1D1 CL E G H671879303ORPHA1206388604741
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1AKR1D1 CL E G H671879303ORPHA1206388604741
HP:0002910HP:0008150Elevated serum transaminases during infections1AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM1206388604741
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM1206388604741
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM1202388604741
HP:0002910HP:0008150Elevated serum transaminases during infections1AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM1202388604741
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM1206388604741
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM1206388604741
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM1202388604741
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM1202388604741
HP:0002910HP:0008150Elevated serum transaminases during infections1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1316417612724
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1316417612724
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1330417612724
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1330417612724
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1316417612724
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1316417612724
HP:0002910HP:0008150Elevated serum transaminases during infections1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1330417612724
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1330417612724
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM12504428606844
HP:0002910HP:0008150Elevated serum transaminases during infections1ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM12504428606844
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13342428606844
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13342428606844
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM12504428606844
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM12504428606844
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13342428606844
HP:0002910HP:0008150Elevated serum transaminases during infections1ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13342428606844
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1AMACR CL E G H23600214950Bile acid synthesis defect, congenital, 4214950C1858328OMIM1164451604489
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1AMACR CL E G H23600214950Bile acid synthesis defect, congenital, 4214950C1858328OMIM1164451604489
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1AMACR CL E G H23600214950Bile acid synthesis defect, congenital, 4214950C1858328OMIM1251451604489
HP:0002910HP:0008150Elevated serum transaminases during infections1AMACR CL E G H23600214950Bile acid synthesis defect, congenital, 4214950C1858328OMIM1251451604489
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1AMACR CL E G H23600214950Bile acid synthesis defect, congenital, 4214950C1858328OMIM1164451604489
HP:0002910HP:0008150Elevated serum transaminases during infections1AMACR CL E G H23600214950Bile acid synthesis defect, congenital, 4214950C1858328OMIM1164451604489
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1AMACR CL E G H23600214950Bile acid synthesis defect, congenital, 4214950C1858328OMIM1251451604489
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1AMACR CL E G H23600214950Bile acid synthesis defect, congenital, 4214950C1858328OMIM1251451604489
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ATM CL E G H472100ORPHA111382795607585
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ATM CL E G H472100ORPHA111382795607585
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ATM CL E G H472100ORPHA110320795607585
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ATM CL E G H472100ORPHA110320795607585
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ATM CL E G H472100ORPHA111382795607585
HP:0002910HP:0008150Elevated serum transaminases during infections1ATM CL E G H472100ORPHA111382795607585
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ATM CL E G H472100ORPHA110320795607585
HP:0002910HP:0008150Elevated serum transaminases during infections1ATM CL E G H472100ORPHA110320795607585
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1291868300197
HP:0002910HP:0008150Elevated serum transaminases during infections1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1291868300197
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1262868300197
HP:0002910HP:0008150Elevated serum transaminases during infections1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1262868300197
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1291868300197
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1291868300197
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1262868300197
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1262868300197
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ATP7B CL E G H540905ORPHA11579870606882
HP:0002910HP:0008150Elevated serum transaminases during infections1ATP7B CL E G H540905ORPHA11579870606882
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ATP7B CL E G H540905ORPHA11389870606882
HP:0002910HP:0008150Elevated serum transaminases during infections1ATP7B CL E G H540905ORPHA11389870606882
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ATP7B CL E G H540905ORPHA11579870606882
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ATP7B CL E G H540905ORPHA11579870606882
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ATP7B CL E G H540905ORPHA11389870606882
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ATP7B CL E G H540905ORPHA11389870606882
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ATP8B1 CL E G H5205147480Cholestasis of pregnancy147480C0268318OMIM14943706602397
HP:0002910HP:0008150Elevated serum transaminases during infections1ATP8B1 CL E G H5205147480Cholestasis of pregnancy147480C0268318OMIM14943706602397
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ATP8B1 CL E G H5205147480Cholestasis of pregnancy147480C0268318OMIM14963706602397
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ATP8B1 CL E G H5205147480Cholestasis of pregnancy147480C0268318OMIM14963706602397
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1ATP8B1 CL E G H5205147480Cholestasis of pregnancy147480C0268318OMIM14943706602397
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1ATP8B1 CL E G H5205147480Cholestasis of pregnancy147480C0268318OMIM14943706602397
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1ATP8B1 CL E G H5205147480Cholestasis of pregnancy147480C0268318OMIM14963706602397
HP:0002910HP:0008150Elevated serum transaminases during infections1ATP8B1 CL E G H5205147480Cholestasis of pregnancy147480C0268318OMIM14963706602397
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12491020603647
HP:0002910HP:0008150Elevated serum transaminases during infections1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12491020603647
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12791020603647
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12791020603647
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12491020603647
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12491020603647
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12791020603647
HP:0002910HP:0008150Elevated serum transaminases during infections1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12791020603647
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0002910HP:0008150Elevated serum transaminases during infections1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0002910HP:0008150Elevated serum transaminases during infections1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM137315832606158
HP:0002910HP:0008150Elevated serum transaminases during infections1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM137315832606158
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM133015832606158
HP:0002910HP:0008150Elevated serum transaminases during infections1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM133015832606158
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM137315832606158
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM137315832606158
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM133015832606158
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM133015832606158
HP:0002910HP:0008150Elevated serum transaminases during infections1C8orf37 CL E G H157657617406Bardet-Biedl syndrome 21617406C4319932OMIM127232614477
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1C8orf37 CL E G H157657617406Bardet-Biedl syndrome 21617406C4319932OMIM127232614477
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1C8orf37 CL E G H157657617406Bardet-Biedl syndrome 21617406C4319932OMIM127232614477
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1C8orf37 CL E G H157657617406Bardet-Biedl syndrome 21617406C4319932OMIM127232614477
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1811527601047
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1851527601047
HP:0002910HP:0008150Elevated serum transaminases during infections1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1851527601047
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1811527601047
HP:0002910HP:0008150Elevated serum transaminases during infections1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1811527601047
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1851527601047
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1851527601047
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1811527601047
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11099688603198
HP:0002910HP:0008150Elevated serum transaminases during infections1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11099688603198
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11109688603198
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11109688603198
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11099688603198
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11099688603198
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11109688603198
HP:0002910HP:0008150Elevated serum transaminases during infections1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11109688603198
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0002910HP:0008150Elevated serum transaminases during infections1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0002910HP:0008150Elevated serum transaminases during infections1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM188129253612013
HP:0002910HP:0008150Elevated serum transaminases during infections1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM188129253612013
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1106429253612013
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1106429253612013
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM188129253612013
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM188129253612013
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1106429253612013
HP:0002910HP:0008150Elevated serum transaminases during infections1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1106429253612013
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1106429253612013
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1106429253612013
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA188129253612013
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA188129253612013
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1106429253612013
HP:0002910HP:0008150Elevated serum transaminases during infections1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1106429253612013
HP:0002910HP:0008150Elevated serum transaminases during infections1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA188129253612013
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA188129253612013
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CD19 CL E G H9301572ORPHA12721633107265
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CD19 CL E G H9301572ORPHA12721633107265
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CD19 CL E G H9301572ORPHA12231633107265
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CD19 CL E G H9301572ORPHA12231633107265
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CD19 CL E G H9301572ORPHA12721633107265
HP:0002910HP:0008150Elevated serum transaminases during infections1CD19 CL E G H9301572ORPHA12721633107265
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CD19 CL E G H9301572ORPHA12231633107265
HP:0002910HP:0008150Elevated serum transaminases during infections1CD19 CL E G H9301572ORPHA12231633107265
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CD81 CL E G H9751572ORPHA11071701186845
HP:0002910HP:0008150Elevated serum transaminases during infections1CD81 CL E G H9751572ORPHA11071701186845
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CD81 CL E G H9751572ORPHA1771701186845
HP:0002910HP:0008150Elevated serum transaminases during infections1CD81 CL E G H9751572ORPHA1771701186845
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CD81 CL E G H9751572ORPHA11071701186845
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CD81 CL E G H9751572ORPHA11071701186845
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CD81 CL E G H9751572ORPHA1771701186845
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CD81 CL E G H9751572ORPHA1771701186845
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1COG2 CL E G H22796617395CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq617395C4479353OMIM11596546606974
HP:0002910HP:0008150Elevated serum transaminases during infections1COG2 CL E G H22796617395CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq617395C4479353OMIM11596546606974
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1COG2 CL E G H22796617395CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq617395C4479353OMIM11476546606974
HP:0002910HP:0008150Elevated serum transaminases during infections1COG2 CL E G H22796617395CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq617395C4479353OMIM11476546606974
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1COG2 CL E G H22796617395CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq617395C4479353OMIM11596546606974
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1COG2 CL E G H22796617395CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq617395C4479353OMIM11596546606974
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1COG2 CL E G H22796617395CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq617395C4479353OMIM11476546606974
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1COG2 CL E G H22796617395CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq617395C4479353OMIM11476546606974
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1COG4 CL E G H25839263501ORPHA124718620606976
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1COG4 CL E G H25839263501ORPHA124718620606976
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1COG4 CL E G H25839263501ORPHA122118620606976
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1COG4 CL E G H25839263501ORPHA122118620606976
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1COG4 CL E G H25839263501ORPHA124718620606976
HP:0002910HP:0008150Elevated serum transaminases during infections1COG4 CL E G H25839263501ORPHA124718620606976
HP:0002910HP:0008150Elevated serum transaminases during infections1COG4 CL E G H25839263501ORPHA122118620606976
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1COG4 CL E G H25839263501ORPHA122118620606976
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM122118620606976
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM122118620606976
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM124718620606976
HP:0002910HP:0008150Elevated serum transaminases during infections1COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM124718620606976
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM122118620606976
HP:0002910HP:0008150Elevated serum transaminases during infections1COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM122118620606976
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM124718620606976
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM124718620606976
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM121118622606978
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM121118622606978
HP:0002910HP:0008150Elevated serum transaminases during infections1COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM125418622606978
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM125418622606978
HP:0002910HP:0008150Elevated serum transaminases during infections1COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM121118622606978
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM121118622606978
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM125418622606978
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM125418622606978
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CPT1A CL E G H1374156ORPHA15032328600528
HP:0002910HP:0008150Elevated serum transaminases during infections1CPT1A CL E G H1374156ORPHA15032328600528
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CPT1A CL E G H1374156ORPHA14522328600528
HP:0002910HP:0008150Elevated serum transaminases during infections1CPT1A CL E G H1374156ORPHA14522328600528
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CPT1A CL E G H1374156ORPHA15032328600528
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CPT1A CL E G H1374156ORPHA15032328600528
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CPT1A CL E G H1374156ORPHA14522328600528
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CPT1A CL E G H1374156ORPHA14522328600528
HP:0002910HP:0008150Elevated serum transaminases during infections1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM15032328600528
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM15032328600528
HP:0002910HP:0008150Elevated serum transaminases during infections1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM14522328600528
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM14522328600528
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM15032328600528
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM15032328600528
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM14522328600528
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM14522328600528
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CPT2 CL E G H1376228308ORPHA16182330600650
HP:0002910HP:0008150Elevated serum transaminases during infections1CPT2 CL E G H1376228308ORPHA16182330600650
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CPT2 CL E G H1376228308ORPHA15052330600650
HP:0002910HP:0008150Elevated serum transaminases during infections1CPT2 CL E G H1376228308ORPHA15052330600650
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CPT2 CL E G H1376228308ORPHA16182330600650
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CPT2 CL E G H1376228308ORPHA16182330600650
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CPT2 CL E G H1376228308ORPHA15052330600650
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CPT2 CL E G H1376228308ORPHA15052330600650
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CPT2 CL E G H1376600649Carnitine palmitoyltransferase II deficiency, infantile600649C1833511OMIM16182330600650
HP:0002910HP:0008150Elevated serum transaminases during infections1CPT2 CL E G H1376600649Carnitine palmitoyltransferase II deficiency, infantile600649C1833511OMIM16182330600650
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CPT2 CL E G H1376600649Carnitine palmitoyltransferase II deficiency, infantile600649C1833511OMIM15052330600650
HP:0002910HP:0008150Elevated serum transaminases during infections1CPT2 CL E G H1376600649Carnitine palmitoyltransferase II deficiency, infantile600649C1833511OMIM15052330600650
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CPT2 CL E G H1376600649Carnitine palmitoyltransferase II deficiency, infantile600649C1833511OMIM16182330600650
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CPT2 CL E G H1376600649Carnitine palmitoyltransferase II deficiency, infantile600649C1833511OMIM16182330600650
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CPT2 CL E G H1376600649Carnitine palmitoyltransferase II deficiency, infantile600649C1833511OMIM15052330600650
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CPT2 CL E G H1376600649Carnitine palmitoyltransferase II deficiency, infantile600649C1833511OMIM15052330600650
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM15052330600650
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM15052330600650
HP:0002910HP:0008150Elevated serum transaminases during infections1CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM16182330600650
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM16182330600650
HP:0002910HP:0008150Elevated serum transaminases during infections1CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM15052330600650
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM15052330600650
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM16182330600650
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM16182330600650
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CR2 CL E G H13801572ORPHA14532336120650
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CR2 CL E G H13801572ORPHA14532336120650
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CR2 CL E G H13801572ORPHA13582336120650
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CR2 CL E G H13801572ORPHA13582336120650
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CR2 CL E G H13801572ORPHA14532336120650
HP:0002910HP:0008150Elevated serum transaminases during infections1CR2 CL E G H13801572ORPHA14532336120650
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CR2 CL E G H13801572ORPHA13582336120650
HP:0002910HP:0008150Elevated serum transaminases during infections1CR2 CL E G H13801572ORPHA13582336120650
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM1942579123980
HP:0002910HP:0008150Elevated serum transaminases during infections1CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM1942579123980
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM11002579123980
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM11002579123980
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM1942579123980
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM1942579123980
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM11002579123980
HP:0002910HP:0008150Elevated serum transaminases during infections1CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM11002579123980
HP:0002910HP:0008150Elevated serum transaminases during infections1CYP7B1 CL E G H942079302ORPHA12392652603711
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CYP7B1 CL E G H942079302ORPHA12392652603711
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CYP7B1 CL E G H942079302ORPHA12952652603711
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CYP7B1 CL E G H942079302ORPHA12952652603711
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CYP7B1 CL E G H942079302ORPHA12392652603711
HP:0002910HP:0031956Elevated circulating aspartate aminotransferase concentration1CYP7B1 CL E G H942079302ORPHA12392652603711
HP:0002910HP:0008150Elevated serum transaminases during infections1CYP7B1 CL E G H942079302ORPHA12952652603711
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CYP7B1 CL E G H942079302ORPHA12952652603711
HP:0002910HP:0031964Elevated circulating alanine aminotransferase concentration1CYP7B1 CL E G H9420613812Bile acid synthesis defect, congenital, 3613812C3151147OMIM12392652603711
HP:0002910HP:0008150Elevated serum transaminases during infections1CYP7B1 CL E G H9420613812Bile acid synthesis defect, congenital, 3613812C3151147OMIM12392652603711
HP:0002910HP:0200148Abnormal liver function tests during pregnancy1CYP7B1 CL E G H9420