Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the liver (HP:0001392)help
Parent Node:
expand
Abnormal liver morphology (HP:0410042)help
..Starting node
..expand
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; 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 H5244600803Cholecystitis600803C0008325OMIM124433445171060
HP:0002910HP:0002910Elevated hepatic transaminase0ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM124433445171060
HP:0002910HP:0002910Elevated hepatic transaminase0ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM172667170995
HP:0002910HP:0002910Elevated hepatic transaminase0ABHD5 CL E G H5109998907ORPHA13915521396604780
HP:0002910HP:0002910Elevated hepatic transaminase0ACAD9 CL E G H2897699901ORPHA16121721497611103
HP:0002910HP:0002910Elevated hepatic transaminase0ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM16121721497611103
HP:0002910HP:0002910Elevated hepatic transaminase0ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM117138989607008
HP:0002910HP:0002910Elevated hepatic transaminase0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM126257119609751
HP:0002910HP:0002910Elevated hepatic transaminase0ADAR CL E G H10351ORPHA1229316225146920
HP:0002910HP:0002910Elevated hepatic transaminase0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM11564257102750
HP:0002910HP:0002910Elevated hepatic transaminase0AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM1248858321610860
HP:0002910HP:0002910Elevated hepatic transaminase0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA143189325603100
HP:0002910HP:0002910Elevated hepatic transaminase0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM143189325603100
HP:0002910HP:0002910Elevated hepatic transaminase0AHCY CL E G H19188618ORPHA11594343180960
HP:0002910HP:0002910Elevated hepatic transaminase0AKR1D1 CL E G H671879303ORPHA115179388604741
HP:0002910HP:0002910Elevated hepatic transaminase0AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM115179388604741
HP:0002910HP:0002910Elevated hepatic transaminase0ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM167210417612724
HP:0002910HP:0002910Elevated hepatic transaminase0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13161745428606844
HP:0002910HP:0002910Elevated hepatic transaminase0AMACR CL E G H23600214950Bile acid synthesis defect, congenital, 4214950C1858328OMIM114147451604489
HP:0002910HP:0002910Elevated hepatic transaminase0ATM CL E G H472100ORPHA113248934795607585
HP:0002910HP:0002910Elevated hepatic transaminase0ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM15233868300197
HP:0002910HP:0002910Elevated hepatic transaminase0ATP7B CL E G H540905ORPHA1938958870606882
HP:0002910HP:0002910Elevated hepatic transaminase0ATP8B1 CL E G H5205147480Cholestasis of pregnancy147480C0268318OMIM11403613706602397
HP:0002910HP:0002910Elevated hepatic transaminase0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM1371741020603647
HP:0002910HP:0002910Elevated hepatic transaminase0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA15026315832606158
HP:0002910HP:0002910Elevated hepatic transaminase0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM15026315832606158
HP:0002910HP:0002910Elevated hepatic transaminase0C8orf37 CL E G H157657617406Bardet-Biedl syndrome 21617406C4319932OMIM11711927232614477
HP:0002910HP:0002910Elevated hepatic transaminase0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA113621527601047
HP:0002910HP:0002910Elevated hepatic transaminase0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA115949688603198
HP:0002910HP:0002910Elevated hepatic transaminase0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM115949688603198
HP:0002910HP:0002910Elevated hepatic transaminase0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM19658429253612013
HP:0002910HP:0002910Elevated hepatic transaminase0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA19658429253612013
HP:0002910HP:0002910Elevated hepatic transaminase0CD19 CL E G H9301572ORPHA1101961633107265
HP:0002910HP:0002910Elevated hepatic transaminase0CD81 CL E G H9751572ORPHA12491701186845
HP:0002910HP:0002910Elevated hepatic transaminase0COG2 CL E G H22796617395CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq617395C4479353OMIM12916546606974
HP:0002910HP:0002910Elevated hepatic transaminase0COG4 CL E G H25839263501ORPHA1614118620606976
HP:0002910HP:0002910Elevated hepatic transaminase0COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM1614118620606976
HP:0002910HP:0002910Elevated hepatic transaminase0COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM1515918622606978
HP:0002910HP:0002910Elevated hepatic transaminase0CPT1A CL E G H1374156ORPHA1532392328600528
HP:0002910HP:0002910Elevated hepatic transaminase0CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM1532392328600528
HP:0002910HP:0002910Elevated hepatic transaminase0CPT2 CL E G H1376228308ORPHA11133662330600650
HP:0002910HP:0002910Elevated hepatic transaminase0CPT2 CL E G H1376600649Carnitine palmitoyltransferase II deficiency, infantile600649C1833511OMIM11133662330600650
HP:0002910HP:0002910Elevated hepatic transaminase0CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM11133662330600650
HP:0002910HP:0002910Elevated hepatic transaminase0CR2 CL E G H13801572ORPHA1192332336120650
HP:0002910HP:0002910Elevated hepatic transaminase0CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM12762579123980
HP:0002910HP:0002910Elevated hepatic transaminase0CYP7B1 CL E G H942079302ORPHA1631992652603711
HP:0002910HP:0002910Elevated hepatic transaminase0CYP7B1 CL E G H9420613812Bile acid synthesis defect, congenital, 3613812C3151147OMIM1631992652603711
HP:0002910HP:0002910Elevated hepatic transaminase0DCDC2 CL E G H51473617394Sclerosing cholangitis, neonatal617394C4479344OMIM11110618141605755
HP:0002910HP:0002910Elevated hepatic transaminase0DDOST CL E G H1650300536ORPHA121062728602202
HP:0002910HP:0002910Elevated hepatic transaminase0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM1641222858601465
HP:0002910HP:0002910Elevated hepatic transaminase0DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM1812220603608172
HP:0002910HP:0002910Elevated hepatic transaminase0DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA1232022898238331
HP:0002910HP:0002910Elevated hepatic transaminase0DMD CL E G H175698895ORPHA1397037602928300377
HP:0002910HP:0002910Elevated hepatic transaminase0DNAJC19 CL E G H13111866634ORPHA165530528608977
HP:0002910HP:0002910Elevated hepatic transaminase0DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM1116027030617048
HP:0002910HP:0002910Elevated hepatic transaminase0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM191203005603503
HP:0002910HP:0002910Elevated hepatic transaminase0DPM2 CL E G H8818615042Congenital disorder of glycosylation type 1u615042C3554385OMIM12933006603564
HP:0002910HP:0002910Elevated hepatic transaminase0DPM3 CL E G H54344263494ORPHA12413007605951
HP:0002910HP:0002910Elevated hepatic transaminase0DPM3 CL E G H54344612937Congenital disorder of glycosylation type 1O612937C2752007OMIM12413007605951
HP:0002910HP:0002910Elevated hepatic transaminase0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA1811253255604032
HP:0002910HP:0002910Elevated hepatic transaminase0ERCC4 CL E G H2072610965XFE progeroid syndrome610965C1970416OMIM1723483436133520
HP:0002910HP:0002910Elevated hepatic transaminase0F5 CL E G H2153131Myeloid sarcomaORPHA11693293542612309
HP:0002910HP:0002910Elevated hepatic transaminase0FAH CL E G H2184276700Tyrosinemia type I276700C0268490OMIM11022633579613871
HP:0002910HP:0002910Elevated hepatic transaminase0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA12283796164810
HP:0002910HP:0002910Elevated hepatic transaminase0G6PC CL E G H2538232200Glycogen storage disease type 1A232200C2919796OMIM11184056613742
HP:0002910HP:0002910Elevated hepatic transaminase0GLRX5 CL E G H51218616860Sideroblastic anemia 3, pyridoxine-refractory616860C4225155OMIM164720134609588
HP:0002910HP:0002910Elevated hepatic transaminase0GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA122247523657603824
HP:0002910HP:0002910Elevated hepatic transaminase0GNMT CL E G H27232606664Glycine N-methyltransferase deficiency606664C1847720OMIM16244415606628
HP:0002910HP:0002910Elevated hepatic transaminase0GPD1 CL E G H2819614480Hypertriglyceridemia, transient infantile614480C3280953OMIM110284455138420
HP:0002910HP:0002910Elevated hepatic transaminase0GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA121124492602646
HP:0002910HP:0002910Elevated hepatic transaminase0HADH CL E G H303371212ORPHA126944799601609
HP:0002910HP:0002910Elevated hepatic transaminase0HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM1713024801600890
HP:0002910HP:0002910Elevated hepatic transaminase0HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM1671484803143450
HP:0002910HP:0002910Elevated hepatic transaminase0HAMP CL E G H5781779230ORPHA1164215598606464
HP:0002910HP:0002910Elevated hepatic transaminase0HAMP CL E G H57817613313Hemochromatosis type 2B613313C1865616OMIM1164215598606464
HP:0002910HP:0002910Elevated hepatic transaminase0HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM1611034886613609
HP:0002910HP:0002910Elevated hepatic transaminase0HJV CL E G H14873879230ORPHA1582574887608374
HP:0002910HP:0002910Elevated hepatic transaminase0HNF1A CL E G H6927324575ORPHA153934311621142410
HP:0002910HP:0002910Elevated hepatic transaminase0HNF1B CL E G H6928137920Familial hypoplastic, glomerulocystic kidney137920C0431693OMIM124048811630189907
HP:0002910HP:0002910Elevated hepatic transaminase0HNF4A CL E G H3172263455Hyperinsulinism due to HNF4A deficiencyCN202290ORPHA11572835024600281
HP:0002910HP:0002910Elevated hepatic transaminase0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11013055213601860
HP:0002910HP:0002910Elevated hepatic transaminase0HSD3B7 CL E G H8027079301ORPHA1269618324607764
HP:0002910HP:0002910Elevated hepatic transaminase0HSD3B7 CL E G H80270607765Bile acid synthesis defect, congenital, 1607765C1843116OMIM1269618324607764
HP:0002910HP:0002910Elevated hepatic transaminase0ICOS CL E G H298511572ORPHA161085351604558
HP:0002910HP:0002910Elevated hepatic transaminase0IFIH1 CL E G H6413551ORPHA12828618873606951
HP:0002910HP:0002910Elevated hepatic transaminase0IFT172 CL E G H26160616394Retinitis pigmentosa 71616394C4225342OMIM12726930391607386
HP:0002910HP:0002910Elevated hepatic transaminase0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA15432521474613037
HP:0002910HP:0002910Elevated hepatic transaminase0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM16206456188601920
HP:0002910HP:0002910Elevated hepatic transaminase0JAK2 CL E G H3717131Myeloid sarcomaORPHA1262286192147796
HP:0002910HP:0002910Elevated hepatic transaminase0LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM176512151350
HP:0002910HP:0002910Elevated hepatic transaminase0LBR CL E G H3930613471Reynolds syndrome613471C0748397OMIM1281726518600024
HP:0002910HP:0002910Elevated hepatic transaminase0LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM195429569610284
HP:0002910HP:0002910Elevated hepatic transaminase0MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM1176898156560
HP:0002910HP:0002910Elevated hepatic transaminase0MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM1501247224137960
HP:0002910HP:0002910Elevated hepatic transaminase0MRPL3 CL E G H11222614582Combined oxidative phosphorylation deficiency 9614582C3281234OMIM144410379607118
HP:0002910HP:0002910Elevated hepatic transaminase0MRPL44 CL E G H65080615395Combined oxidative phosphorylation deficiency 16615395C3809339OMIM126216650611849
HP:0002910HP:0002910Elevated hepatic transaminase0MRPS16 CL E G H51021610498Combined oxidative phosphorylation deficiency 2610498C1864843OMIM115114048609204
HP:0002910HP:0002910Elevated hepatic transaminase0MS4A1 CL E G H9311572ORPHA12147315112210
HP:0002910HP:0002910Elevated hepatic transaminase0MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA11157380142408
HP:0002910HP:0002910Elevated hepatic transaminase0MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM11832777530251170
HP:0002910HP:0002910Elevated hepatic transaminase0NBAS CL E G H51594616483Infantile liver failure syndrome 2616483C3809651OMIM14415615625608025
HP:0002910HP:0002910Elevated hepatic transaminase0NFKB1 CL E G H47901572ORPHA136977794164011
HP:0002910HP:0002910Elevated hepatic transaminase0NFKB2 CL E G H47911572ORPHA1111657795164012
HP:0002910HP:0002910Elevated hepatic transaminase0NR1H4 CL E G H9971617049Cholestasis, progressive familial intrahepatic, 5617049C4310747OMIM18647967603826
HP:0002910HP:0002910Elevated hepatic transaminase0OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM120618104602876
HP:0002910HP:0002910Elevated hepatic transaminase0PEX13 CL E G H5194614883Peroxisome biogenesis disorder 11A614883C3554000OMIM1101968855601789
HP:0002910HP:0002910Elevated hepatic transaminase0PEX19 CL E G H5824614886Peroxisome biogenesis disorder 12A614886C3554002OMIM141339713600279
HP:0002910HP:0002910Elevated hepatic transaminase0PGM1 CL E G H5236614921Congenital disorder of glycosylation type 1t614921C2752015OMIM1351628905171900
HP:0002910HP:0002910Elevated hepatic transaminase0PHKA2 CL E G H5256306000Glycogen storage disease type IXa1306000C0017927OMIM11143588926300798
HP:0002910HP:0002910Elevated hepatic transaminase0PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM1331208931172471
HP:0002910HP:0002910Elevated hepatic transaminase0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM11293639115601785
HP:0002910HP:0002910Elevated hepatic transaminase0PNPLA2 CL E G H5710498908ORPHA14927730802609059
HP:0002910HP:0002910Elevated hepatic transaminase0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM14927730802609059
HP:0002910HP:0002910Elevated hepatic transaminase0POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM13222499175174761
HP:0002910HP:0002910Elevated hepatic transaminase0POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA130011969179174763
HP:0002910HP:0002910Elevated hepatic transaminase0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM130011969179174763
HP:0002910HP:0002910Elevated hepatic transaminase0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA154909236601487
HP:0002910HP:0002910Elevated hepatic transaminase0PRKCD CL E G H55801572ORPHA161449399176977
HP:0002910HP:0002910Elevated hepatic transaminase0PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM15179541602177
HP:0002910HP:0002910Elevated hepatic transaminase0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM111869545177046
HP:0002910HP:0002910Elevated hepatic transaminase0PSMB9 CL E G H5698617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM15119546177045
HP:0002910HP:0002910Elevated hepatic transaminase0RNASEH2A CL E G H1053551ORPHA12113318518606034
HP:0002910HP:0002910Elevated hepatic transaminase0RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM12113318518606034
HP:0002910HP:0002910Elevated hepatic transaminase0RNASEH2B CL E G H7962151ORPHA14214925671610326
HP:0002910HP:0002910Elevated hepatic transaminase0RNASEH2C CL E G H8415351ORPHA11511224116610330
HP:0002910HP:0002910Elevated hepatic transaminase0RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM11511224116610330
HP:0002910HP:0002910Elevated hepatic transaminase0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM15143229168610937
HP:0002910HP:0002910Elevated hepatic transaminase0RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA15143229168610937
HP:0002910HP:0002910Elevated hepatic transaminase0RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA14321617296604712
HP:0002910HP:0002910Elevated hepatic transaminase0SAMHD1 CL E G H2593951ORPHA15720015925606754
HP:0002910HP:0002910Elevated hepatic transaminase0SAR1B CL E G H5112871Human granulocytic ehrlichiosisORPHA1163710535607690
HP:0002910HP:0002910Elevated hepatic transaminase0SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM1906019440607444
HP:0002910HP:0002910Elevated hepatic transaminase0SERPINA1 CL E G H5265613490Alpha-1-antitrypsin deficiency613490C0221757OMIM11082868941107400
HP:0002910HP:0002910Elevated hepatic transaminase0SLC22A5 CL E G H6584158ORPHA116149210969603377
HP:0002910HP:0002910Elevated hepatic transaminase0SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM116149210969603377
HP:0002910HP:0002910Elevated hepatic transaminase0SLC25A13 CL E G H10165603471Citrullinemia type II603471C1863844OMIM111522910983603859
HP:0002910HP:0002910Elevated hepatic transaminase0SLC25A20 CL E G H788159ORPHA1421021421613698
HP:0002910HP:0002910Elevated hepatic transaminase0SLC25A20 CL E G H788212138Carnitine acylcarnitine translocase deficiency212138C0342791OMIM1421021421613698
HP:0002910HP:0002910Elevated hepatic transaminase0SLC30A10 CL E G H55532309854ORPHA1229225355611146
HP:0002910HP:0002910Elevated hepatic transaminase0SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM1229225355611146
HP:0002910HP:0002910Elevated hepatic transaminase0SLC37A4 CL E G H2542232220Glucose-6-phosphate transport defect232220C0268146OMIM11165984061602671
HP:0002910HP:0002910Elevated hepatic transaminase0SRD5A3 CL E G H79644612379Congenital disorder of glycosylation type 1Q612379C3150191OMIM11613925812611715
HP:0002910HP:0002910Elevated hepatic transaminase0SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM133111301604857
HP:0002910HP:0002910Elevated hepatic transaminase0STEAP3 CL E G H55240300298ORPHA113724592609671
HP:0002910HP:0002910Elevated hepatic transaminase0TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM1941325439616830
HP:0002910HP:0002910Elevated hepatic transaminase0TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA114862411634602272
HP:0002910HP:0002910Elevated hepatic transaminase0TFAM CL E G H7019617156Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)617156C4310690OMIM143411741600438
HP:0002910HP:0002910Elevated hepatic transaminase0TFR2 CL E G H7036604250Hemochromatosis type 3604250C1858664OMIM15422911762604720
HP:0002910HP:0002910Elevated hepatic transaminase0TMEM165 CL E G H55858614727Congenital disorder of glycosylation type 2k614727C3553571OMIM166830760614726
HP:0002910HP:0002910Elevated hepatic transaminase0TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM117431628396609884
HP:0002910HP:0002910Elevated hepatic transaminase0TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA117431628396609884
HP:0002910HP:0002910Elevated hepatic transaminase0TNFRSF13B CL E G H234951572ORPHA15022818153604907
HP:0002910HP:0002910Elevated hepatic transaminase0TNFRSF13C CL E G H1156501572ORPHA138217755606269
HP:0002910HP:0002910Elevated hepatic transaminase0TNFSF12 CL E G H87421572ORPHA116711927602695
HP:0002910HP:0002910Elevated hepatic transaminase0TRAPPC11 CL E G H60684369840ORPHA11735125751614138
HP:0002910HP:0002910Elevated hepatic transaminase0TREX1 CL E G H1127751ORPHA17115312269606609
HP:0002910HP:0002910Elevated hepatic transaminase0TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM17115312269606609
HP:0002910HP:0002910Elevated hepatic transaminase0TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM17115312269606609
HP:0002910HP:0002910Elevated hepatic transaminase0TRMT10C CL E G H54931616974Combined oxidative phosphorylation deficiency 30616974C4310773OMIM121926022615423
HP:0002910HP:0002910Elevated hepatic transaminase0TRMU CL E G H55687613070Liver failure acute infantile613070C3278664OMIM12329625481610230
HP:0002910HP:0002910Elevated hepatic transaminase0TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA1953813148131222
HP:0002910HP:0002910Elevated hepatic transaminase0UQCRC2 CL E G H7385615160Mitochondrial complex III deficiency, nuclear type 5615160C3554608OMIM1413212586191329
HP:0002910HP:0002910Elevated hepatic transaminase0VIPAS39 CL E G H63894613404Arthrogryposis, renal dysfunction, and cholestasis 2613404C3150672OMIM11310220347613401
HP:0002910HP:0002910Elevated hepatic transaminase0VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM15817912712608552
HP:0002910HP:0002910Elevated hepatic transaminase0WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM13129229250613602
HP:0002910HP:0002910Elevated hepatic transaminase1ABCB4 CL E G H5244600803Cholecystitis600803C0008325OMIM124433445171060
HP:0002910HP:0002910Elevated hepatic transaminase1ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM124433445171060
HP:0002910HP:0002910Elevated hepatic transaminase1ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM172667170995
HP:0002910HP:0002910Elevated hepatic transaminase1ABHD5 CL E G H5109998907ORPHA13915521396604780
HP:0002910HP:0002910Elevated hepatic transaminase1ACAD9 CL E G H2897699901ORPHA16121721497611103
HP:0002910HP:0002910Elevated hepatic transaminase1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM16121721497611103
HP:0002910HP:0002910Elevated hepatic transaminase1ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM117138989607008
HP:0002910HP:0002910Elevated hepatic transaminase1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM126257119609751
HP:0002910HP:0002910Elevated hepatic transaminase1ADAR CL E G H10351ORPHA1229316225146920
HP:0002910HP:0002910Elevated hepatic transaminase1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM11564257102750
HP:0002910HP:0002910Elevated hepatic transaminase1AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM1248858321610860
HP:0002910HP:0002910Elevated hepatic transaminase1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA143189325603100
HP:0002910HP:0002910Elevated hepatic transaminase1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM143189325603100
HP:0002910HP:0002910Elevated hepatic transaminase1AHCY CL E G H19188618ORPHA11594343180960
HP:0002910HP:0002910Elevated hepatic transaminase1AKR1D1 CL E G H671879303ORPHA115179388604741
HP:0002910HP:0002910Elevated hepatic transaminase1AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM115179388604741
HP:0002910HP:0002910Elevated hepatic transaminase1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM167210417612724
HP:0002910HP:0002910Elevated hepatic transaminase1ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13161745428606844
HP:0002910HP:0002910Elevated hepatic transaminase1AMACR CL E G H23600214950Bile acid synthesis defect, congenital, 4214950C1858328OMIM114147451604489
HP:0002910HP:0002910Elevated hepatic transaminase1ATM CL E G H472100ORPHA113248934795607585
HP:0002910HP:0002910Elevated hepatic transaminase1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM15233868300197
HP:0002910HP:0002910Elevated hepatic transaminase1ATP7B CL E G H540905ORPHA1938958870606882
HP:0002910HP:0002910Elevated hepatic transaminase1ATP8B1 CL E G H5205147480Cholestasis of pregnancy147480C0268318OMIM11403613706602397
HP:0002910HP:0002910Elevated hepatic transaminase1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM1371741020603647
HP:0002910HP:0002910Elevated hepatic transaminase1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA15026315832606158
HP:0002910HP:0002910Elevated hepatic transaminase1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM15026315832606158
HP:0002910HP:0002910Elevated hepatic transaminase1C8orf37 CL E G H157657617406Bardet-Biedl syndrome 21617406C4319932OMIM11711927232614477
HP:0002910HP:0002910Elevated hepatic transaminase1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA113621527601047
HP:0002910HP:0002910Elevated hepatic transaminase1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA115949688603198
HP:0002910HP:0002910Elevated hepatic transaminase1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM115949688603198
HP:0002910HP:0002910Elevated hepatic transaminase1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM19658429253612013
HP:0002910HP:0002910Elevated hepatic transaminase1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA19658429253612013
HP:0002910HP:0002910Elevated hepatic transaminase1CD19 CL E G H9301572ORPHA1101961633107265
HP:0002910HP:0002910Elevated hepatic transaminase1CD81 CL E G H9751572ORPHA12491701186845
HP:0002910HP:0002910Elevated hepatic transaminase1COG2 CL E G H22796617395CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq617395C4479353OMIM12916546606974
HP:0002910HP:0002910Elevated hepatic transaminase1COG4 CL E G H25839263501ORPHA1614118620606976
HP:0002910HP:0002910Elevated hepatic transaminase1COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM1614118620606976
HP:0002910HP:0002910Elevated hepatic transaminase1COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM1515918622606978
HP:0002910HP:0002910Elevated hepatic transaminase1CPT1A CL E G H1374156ORPHA1532392328600528
HP:0002910HP:0002910Elevated hepatic transaminase1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM1532392328600528
HP:0002910HP:0002910Elevated hepatic transaminase1CPT2 CL E G H1376228308ORPHA11133662330600650
HP:0002910HP:0002910Elevated hepatic transaminase1CPT2 CL E G H1376600649Carnitine palmitoyltransferase II deficiency, infantile600649C1833511OMIM11133662330600650
HP:0002910HP:0002910Elevated hepatic transaminase1CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM11133662330600650
HP:0002910HP:0002910Elevated hepatic transaminase1CR2 CL E G H13801572ORPHA1192332336120650
HP:0002910HP:0002910Elevated hepatic transaminase1CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM12762579123980
HP:0002910HP:0002910Elevated hepatic transaminase1CYP7B1 CL E G H942079302ORPHA1631992652603711
HP:0002910HP:0002910Elevated hepatic transaminase1CYP7B1 CL E G H9420613812Bile acid synthesis defect, congenital, 3613812C3151147OMIM1631992652603711
HP:0002910HP:0002910Elevated hepatic transaminase1DCDC2 CL E G H51473617394Sclerosing cholangitis, neonatal617394C4479344OMIM11110618141605755
HP:0002910HP:0002910Elevated hepatic transaminase1DDOST CL E G H1650300536ORPHA121062728602202
HP:0002910HP:0002910Elevated hepatic transaminase1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM1641222858601465
HP:0002910HP:0002910Elevated hepatic transaminase1DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM1812220603608172
HP:0002910HP:0002910Elevated hepatic transaminase1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA1232022898238331
HP:0002910HP:0002910Elevated hepatic transaminase1DMD CL E G H175698895ORPHA1397037602928300377
HP:0002910HP:0002910Elevated hepatic transaminase1DNAJC19 CL E G H13111866634ORPHA165530528608977
HP:0002910HP:0002910Elevated hepatic transaminase1DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM1116027030617048
HP:0002910HP:0002910Elevated hepatic transaminase1DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM191203005603503
HP:0002910HP:0002910Elevated hepatic transaminase1DPM2 CL E G H8818615042Congenital disorder of glycosylation type 1u615042C3554385OMIM12933006603564
HP:0002910HP:0002910Elevated hepatic transaminase1DPM3 CL E G H54344263494ORPHA12413007605951
HP:0002910HP:0002910Elevated hepatic transaminase1DPM3 CL E G H54344612937Congenital disorder of glycosylation type 1O612937C2752007OMIM12413007605951
HP:0002910HP:0002910Elevated hepatic transaminase1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA1811253255604032
HP:0002910HP:0002910Elevated hepatic transaminase1ERCC4 CL E G H2072610965XFE progeroid syndrome610965C1970416OMIM1723483436133520
HP:0002910HP:0002910Elevated hepatic transaminase1F5 CL E G H2153131Myeloid sarcomaORPHA11693293542612309
HP:0002910HP:0002910Elevated hepatic transaminase1FAH CL E G H2184276700Tyrosinemia type I276700C0268490OMIM11022633579613871
HP:0002910HP:0002910Elevated hepatic transaminase1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA12283796164810
HP:0002910HP:0002910Elevated hepatic transaminase1G6PC CL E G H2538232200Glycogen storage disease type 1A232200C2919796OMIM11184056613742
HP:0002910HP:0002910Elevated hepatic transaminase1GLRX5 CL E G H51218616860Sideroblastic anemia 3, pyridoxine-refractory616860C4225155OMIM164720134609588
HP:0002910HP:0002910Elevated hepatic transaminase1GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA122247523657603824
HP:0002910HP:0002910Elevated hepatic transaminase1GNMT CL E G H27232606664Glycine N-methyltransferase deficiency606664C1847720OMIM16244415606628
HP:0002910HP:0002910Elevated hepatic transaminase1GPD1 CL E G H2819614480Hypertriglyceridemia, transient infantile614480C3280953OMIM110284455138420
HP:0002910HP:0002910Elevated hepatic transaminase1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA121124492602646
HP:0002910HP:0002910Elevated hepatic transaminase1HADH CL E G H303371212ORPHA126944799601609
HP:0002910HP:0002910Elevated hepatic transaminase1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM1713024801600890
HP:0002910HP:0002910Elevated hepatic transaminase1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM1671484803143450
HP:0002910HP:0002910Elevated hepatic transaminase1HAMP CL E G H5781779230ORPHA1164215598606464
HP:0002910HP:0002910Elevated hepatic transaminase1HAMP CL E G H57817613313Hemochromatosis type 2B613313C1865616OMIM1164215598606464
HP:0002910HP:0002910Elevated hepatic transaminase1HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM1611034886613609
HP:0002910HP:0002910Elevated hepatic transaminase1HJV CL E G H14873879230ORPHA1582574887608374
HP:0002910HP:0002910Elevated hepatic transaminase1HNF1A CL E G H6927324575ORPHA153934311621142410
HP:0002910HP:0002910Elevated hepatic transaminase1HNF1B CL E G H6928137920Familial hypoplastic, glomerulocystic kidney137920C0431693OMIM124048811630189907
HP:0002910HP:0002910Elevated hepatic transaminase1HNF4A CL E G H3172263455Hyperinsulinism due to HNF4A deficiencyCN202290ORPHA11572835024600281
HP:0002910HP:0002910Elevated hepatic transaminase1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11013055213601860
HP:0002910HP:0002910Elevated hepatic transaminase1HSD3B7 CL E G H8027079301ORPHA1269618324607764
HP:0002910HP:0002910Elevated hepatic transaminase1HSD3B7 CL E G H80270607765Bile acid synthesis defect, congenital, 1607765C1843116OMIM1269618324607764
HP:0002910HP:0002910Elevated hepatic transaminase1ICOS CL E G H298511572ORPHA161085351604558
HP:0002910HP:0002910Elevated hepatic transaminase1IFIH1 CL E G H6413551ORPHA12828618873606951
HP:0002910HP:0002910Elevated hepatic transaminase1IFT172 CL E G H26160616394Retinitis pigmentosa 71616394C4225342OMIM12726930391607386
HP:0002910HP:0002910Elevated hepatic transaminase1INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA15432521474613037
HP:0002910HP:0002910Elevated hepatic transaminase1JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM16206456188601920
HP:0002910HP:0002910Elevated hepatic transaminase1JAK2 CL E G H3717131Myeloid sarcomaORPHA1262286192147796
HP:0002910HP:0002910Elevated hepatic transaminase1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM176512151350
HP:0002910HP:0002910Elevated hepatic transaminase1LBR CL E G H3930613471Reynolds syndrome613471C0748397OMIM1281726518600024
HP:0002910HP:0002910Elevated hepatic transaminase1LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM195429569610284
HP:0002910HP:0002910Elevated hepatic transaminase1MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM1176898156560
HP:0002910HP:0002910Elevated hepatic transaminase1MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM1501247224137960
HP:0002910HP:0002910Elevated hepatic transaminase1MRPL3 CL E G H11222614582Combined oxidative phosphorylation deficiency 9614582C3281234OMIM144410379607118
HP:0002910HP:0002910Elevated hepatic transaminase1MRPL44 CL E G H65080615395Combined oxidative phosphorylation deficiency 16615395C3809339OMIM126216650611849
HP:0002910HP:0002910Elevated hepatic transaminase1MRPS16 CL E G H51021610498Combined oxidative phosphorylation deficiency 2610498C1864843OMIM115114048609204
HP:0002910HP:0002910Elevated hepatic transaminase1MS4A1 CL E G H9311572ORPHA12147315112210
HP:0002910HP:0002910Elevated hepatic transaminase1MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA11157380142408
HP:0002910HP:0002910Elevated hepatic transaminase1MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM11832777530251170
HP:0002910HP:0002910Elevated hepatic transaminase1NBAS CL E G H51594616483Infantile liver failure syndrome 2616483C3809651OMIM14415615625608025
HP:0002910HP:0002910Elevated hepatic transaminase1NFKB1 CL E G H47901572ORPHA136977794164011
HP:0002910HP:0002910Elevated hepatic transaminase1NFKB2 CL E G H47911572ORPHA1111657795164012
HP:0002910HP:0002910Elevated hepatic transaminase1NR1H4 CL E G H9971617049Cholestasis, progressive familial intrahepatic, 5617049C4310747OMIM18647967603826
HP:0002910HP:0002910Elevated hepatic transaminase1OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM120618104602876
HP:0002910HP:0002910Elevated hepatic transaminase1PEX13 CL E G H5194614883Peroxisome biogenesis disorder 11A614883C3554000OMIM1101968855601789
HP:0002910HP:0002910Elevated hepatic transaminase1PEX19 CL E G H5824614886Peroxisome biogenesis disorder 12A614886C3554002OMIM141339713600279
HP:0002910HP:0002910Elevated hepatic transaminase1PGM1 CL E G H5236614921Congenital disorder of glycosylation type 1t614921C2752015OMIM1351628905171900
HP:0002910HP:0002910Elevated hepatic transaminase1PHKA2 CL E G H5256306000Glycogen storage disease type IXa1306000C0017927OMIM11143588926300798
HP:0002910HP:0002910Elevated hepatic transaminase1PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM1331208931172471
HP:0002910HP:0002910Elevated hepatic transaminase1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM11293639115601785
HP:0002910HP:0002910Elevated hepatic transaminase1PNPLA2 CL E G H5710498908ORPHA14927730802609059
HP:0002910HP:0002910Elevated hepatic transaminase1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM14927730802609059
HP:0002910HP:0002910Elevated hepatic transaminase1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM13222499175174761
HP:0002910HP:0002910Elevated hepatic transaminase1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA130011969179174763
HP:0002910HP:0002910Elevated hepatic transaminase1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM130011969179174763
HP:0002910HP:0002910Elevated hepatic transaminase1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA154909236601487
HP:0002910HP:0002910Elevated hepatic transaminase1PRKCD CL E G H55801572ORPHA161449399176977
HP:0002910HP:0002910Elevated hepatic transaminase1PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM15179541602177
HP:0002910HP:0002910Elevated hepatic transaminase1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM111869545177046
HP:0002910HP:0002910Elevated hepatic transaminase1PSMB9 CL E G H5698617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM15119546177045
HP:0002910HP:0002910Elevated hepatic transaminase1RNASEH2A CL E G H1053551ORPHA12113318518606034
HP:0002910HP:0002910Elevated hepatic transaminase1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM12113318518606034
HP:0002910HP:0002910Elevated hepatic transaminase1RNASEH2B CL E G H7962151ORPHA14214925671610326
HP:0002910HP:0002910Elevated hepatic transaminase1RNASEH2C CL E G H8415351ORPHA11511224116610330
HP:0002910HP:0002910Elevated hepatic transaminase1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM11511224116610330
HP:0002910HP:0002910Elevated hepatic transaminase1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM15143229168610937
HP:0002910HP:0002910Elevated hepatic transaminase1RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA15143229168610937
HP:0002910HP:0002910Elevated hepatic transaminase1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA14321617296604712
HP:0002910HP:0002910Elevated hepatic transaminase1SAMHD1 CL E G H2593951ORPHA15720015925606754
HP:0002910HP:0002910Elevated hepatic transaminase1SAR1B CL E G H5112871Human granulocytic ehrlichiosisORPHA1163710535607690
HP:0002910HP:0002910Elevated hepatic transaminase1SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM1906019440607444
HP:0002910HP:0002910Elevated hepatic transaminase1SERPINA1 CL E G H5265613490Alpha-1-antitrypsin deficiency613490C0221757OMIM11082868941107400
HP:0002910HP:0002910Elevated hepatic transaminase1SLC22A5 CL E G H6584158ORPHA116149210969603377
HP:0002910HP:0002910Elevated hepatic transaminase1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM116149210969603377
HP:0002910HP:0002910Elevated hepatic transaminase1SLC25A13 CL E G H10165603471Citrullinemia type II603471C1863844OMIM111522910983603859
HP:0002910HP:0002910Elevated hepatic transaminase1SLC25A20 CL E G H788159ORPHA1421021421613698
HP:0002910HP:0002910Elevated hepatic transaminase1SLC25A20 CL E G H788212138Carnitine acylcarnitine translocase deficiency212138C0342791OMIM1421021421613698
HP:0002910HP:0002910Elevated hepatic transaminase1SLC30A10 CL E G H55532309854ORPHA1229225355611146
HP:0002910HP:0002910Elevated hepatic transaminase1SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM1229225355611146
HP:0002910HP:0002910Elevated hepatic transaminase1SLC37A4 CL E G H2542232220Glucose-6-phosphate transport defect232220C0268146OMIM11165984061602671
HP:0002910HP:0002910Elevated hepatic transaminase1SRD5A3 CL E G H79644612379Congenital disorder of glycosylation type 1Q612379C3150191OMIM11613925812611715
HP:0002910HP:0002910Elevated hepatic transaminase1SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM133111301604857
HP:0002910HP:0002910Elevated hepatic transaminase1STEAP3 CL E G H55240300298ORPHA113724592609671
HP:0002910HP:0002910Elevated hepatic transaminase1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM1941325439616830
HP:0002910HP:0002910Elevated hepatic transaminase1TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA114862411634602272
HP:0002910HP:0002910Elevated hepatic transaminase1TFAM CL E G H7019617156Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)617156C4310690OMIM143411741600438
HP:0002910HP:0002910Elevated hepatic transaminase1TFR2 CL E G H7036604250Hemochromatosis type 3604250C1858664OMIM15422911762604720
HP:0002910HP:0002910Elevated hepatic transaminase1TMEM165 CL E G H55858614727Congenital disorder of glycosylation type 2k614727C3553571OMIM166830760614726
HP:0002910HP:0002910Elevated hepatic transaminase1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM117431628396609884
HP:0002910HP:0002910Elevated hepatic transaminase1TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA117431628396609884
HP:0002910HP:0002910Elevated hepatic transaminase1TNFRSF13B CL E G H234951572ORPHA15022818153604907
HP:0002910HP:0002910Elevated hepatic transaminase1TNFRSF13C CL E G H1156501572ORPHA138217755606269
HP:0002910HP:0002910Elevated hepatic transaminase1TNFSF12 CL E G H87421572ORPHA116711927602695
HP:0002910HP:0002910Elevated hepatic transaminase1TRAPPC11 CL E G H60684369840ORPHA11735125751614138
HP:0002910HP:0002910Elevated hepatic transaminase1TREX1 CL E G H1127751ORPHA17115312269606609
HP:0002910HP:0002910Elevated hepatic transaminase1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM17115312269606609
HP:0002910HP:0002910Elevated hepatic transaminase1TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM17115312269606609
HP:0002910HP:0002910Elevated hepatic transaminase1TRMT10C CL E G H54931616974Combined oxidative phosphorylation deficiency 30616974C4310773OMIM121926022615423
HP:0002910HP:0002910Elevated hepatic transaminase1TRMU CL E G H55687613070Liver failure acute infantile613070C3278664OMIM12329625481610230
HP:0002910HP:0002910Elevated hepatic transaminase1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA1953813148131222
HP:0002910HP:0002910Elevated hepatic transaminase1UQCRC2 CL E G H7385615160Mitochondrial complex III deficiency, nuclear type 5615160C3554608OMIM1413212586191329
HP:0002910HP:0002910Elevated hepatic transaminase1VIPAS39 CL E G H63894613404Arthrogryposis, renal dysfunction, and cholestasis 2613404C3150672OMIM11310220347613401
HP:0002910HP:0002910Elevated hepatic transaminase1VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM15817912712608552
HP:0002910HP:0002910Elevated hepatic transaminase1WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM13129229250613602
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002910HP:0002910Elevated hepatic transaminase0ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM0552161839607575
HP:0002910HP:0002910Elevated hepatic transaminase0ALAS2 CL E G H21275563ORPHA0103227397301300
HP:0002910HP:0002910Elevated hepatic transaminase0ALAS2 CL E G H212300752Protoporphyria, erythropoietic, X-linked300752C2677889OMIM0103227397301300
HP:0002910HP:0002910Elevated hepatic transaminase0ATRX CL E G H546100075ORPHA0170663886300032
HP:0002910HP:0002910Elevated hepatic transaminase0BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA02824114981100113705
HP:0002910HP:0002910Elevated hepatic transaminase0BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA03025127061101600185
HP:0002910HP:0002910Elevated hepatic transaminase0C1QBP CL E G H708617713COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33617713C4540209OMIM07321243601269
HP:0002910HP:0002910Elevated hepatic transaminase0CBS CL E G H875394ORPHA02146111550613381
HP:0002910HP:0002910Elevated hepatic transaminase0CCDC115 CL E G H84317616828CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo616828C4225191OMIM054828178613734
HP:0002910HP:0002910Elevated hepatic transaminase0CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA02438331787600160
HP:0002910HP:0002910Elevated hepatic transaminase0COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM01018918621606977
HP:0002910HP:0002910Elevated hepatic transaminase0CSPP1 CL E G H79848397715ORPHA02725726193611654
HP:0002910HP:0002910Elevated hepatic transaminase0DAXX CL E G H1616100075ORPHA0182681603186
HP:0002910HP:0002910Elevated hepatic transaminase0DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM0232022898238331
HP:0002910HP:0002910Elevated hepatic transaminase0DOLK CL E G H2284591131ORPHA01121523406610746
HP:0002910HP:0002910Elevated hepatic transaminase0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM0421572995191350
HP:0002910HP:0002910Elevated hepatic transaminase0FAN1 CL E G H22909614817Interstitial nephritis, karyomegalic614817C3553774OMIM02127329170613534
HP:0002910HP:0002910Elevated hepatic transaminase0FARSB CL E G H10056613658Rajab syndrome613658C3150910OMIM043817800609690
HP:0002910HP:0002910Elevated hepatic transaminase0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM04843413601605654
HP:0002910HP:0002910Elevated hepatic transaminase0GDF2 CL E G H2658615506Telangiectasia, hereditary hemorrhagic, type 5615506C3809710OMIM0171684217605120
HP:0002910HP:0002910Elevated hepatic transaminase0GNAS CL E G H2778562ORPHA02792164392139320
HP:0002910HP:0002910Elevated hepatic transaminase0GYS2 CL E G H29982089ORPHA0231954707138571
HP:0002910HP:0002910Elevated hepatic transaminase0HBB CL E G H3043231214ORPHA087110094827141900
HP:0002910HP:0002910Elevated hepatic transaminase0HLA-B CL E G H310636426ORPHA053174932142830
HP:0002910HP:0002910Elevated hepatic transaminase0HNF1B CL E G H692893111ORPHA024048811630189907
HP:0002910HP:0002910Elevated hepatic transaminase0HNF1B CL E G H6928261265ORPHA024048811630189907
HP:0002910HP:0002910Elevated hepatic transaminase0HNF4A CL E G H317293111ORPHA01572835024600281
HP:0002910HP:0002910Elevated hepatic transaminase0IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM0155330600709
HP:0002910HP:0002910Elevated hepatic transaminase0IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM048318550609382
HP:0002910HP:0002910Elevated hepatic transaminase0IKZF1 CL E G H1032036426ORPHA0384213176603023
HP:0002910HP:0002910Elevated hepatic transaminase0KIAA0586 CL E G H9786397715ORPHA03115519960610178
HP:0002910HP:0002910Elevated hepatic transaminase0KIF23 CL E G H949398870ORPHA03326392605064
HP:0002910HP:0002910Elevated hepatic transaminase0KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA0452746407190070
HP:0002910HP:0002910Elevated hepatic transaminase0LHX1 CL E G H3975261265ORPHA071156593601999
HP:0002910HP:0002910Elevated hepatic transaminase0NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM02323417646610661
HP:0002910HP:0002910Elevated hepatic transaminase0OFD1 CL E G H84812750ORPHA01625102567300170
HP:0002910HP:0002910Elevated hepatic transaminase0PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA0417350326144610355
HP:0002910HP:0002910Elevated hepatic transaminase0PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA0439517068608092
HP:0002910HP:0002910Elevated hepatic transaminase0POLG CL E G H5428254892ORPHA030011969179174763
HP:0002910HP:0002910Elevated hepatic transaminase0POLG2 CL E G H11232254892ORPHA0141019180604983
HP:0002910HP:0002910Elevated hepatic transaminase0POLG2 CL E G H11232610131Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4610131C1864668OMIM0141019180604983
HP:0002910HP:0002910Elevated hepatic transaminase0PYGL CL E G H5836232700Glycogen storage disease, type VI232700C0017925OMIM0471639725613741
HP:0002910HP:0002910Elevated hepatic transaminase0RBCK1 CL E G H10616615895Polyglucosan body myopathy 1 with or without immunodeficiency615895C4014605OMIM01417815864610924
HP:0002910HP:0002910Elevated hepatic transaminase0RRM2B CL E G H50484254892ORPHA04321617296604712
HP:0002910HP:0002910Elevated hepatic transaminase0SC5D CL E G H6309607330Lathosterolosis607330C1846421OMIM0618210547602286
HP:0002910HP:0002910Elevated hepatic transaminase0SDHD CL E G H6392100093ORPHA017436110683602690
HP:0002910HP:0002910Elevated hepatic transaminase0SLC25A4 CL E G H291254892ORPHA01723410990103220
HP:0002910HP:0002910Elevated hepatic transaminase0SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA014712576770600993
HP:0002910HP:0002910Elevated hepatic transaminase0SP110 CL E G H343179124ORPHA0121875401604457
HP:0002910HP:0002910Elevated hepatic transaminase0TMEM199 CL E G H147007616829CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp616829C4225190OMIM052618085616815
HP:0002910HP:0002910Elevated hepatic transaminase0TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA0541203511998191170
HP:0002910HP:0002910Elevated hepatic transaminase0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM01735125751614138
HP:0002910HP:0002910Elevated hepatic transaminase0TWNK CL E G H56652254892ORPHA0831941160606075
HP:0002910HP:0002910Elevated hepatic transaminase0TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM0831941160606075
HP:0002910HP:0002910Elevated hepatic transaminase0USP18 CL E G H11274617397Pseudo-torch syndrome 2617397C4479376OMIM0114712616607057
HP:0002910HP:0002910Elevated hepatic transaminase0VPS13A CL E G H232302388ORPHA01165061908605978
HP:0002910HP:0002910Elevated hepatic transaminase0YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM01320324249610957
HP:0002910HP:0002910Elevated hepatic transaminase1ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM0552161839607575
HP:0002910HP:0002910Elevated hepatic transaminase1ALAS2 CL E G H21275563ORPHA0103227397301300
HP:0002910HP:0002910Elevated hepatic transaminase1ALAS2 CL E G H212300752Protoporphyria, erythropoietic, X-linked300752C2677889OMIM0103227397301300
HP:0002910HP:0002910Elevated hepatic transaminase1ATRX CL E G H546100075ORPHA0170663886300032
HP:0002910HP:0002910Elevated hepatic transaminase1BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA02824114981100113705
HP:0002910HP:0002910Elevated hepatic transaminase1BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA03025127061101600185
HP:0002910HP:0002910Elevated hepatic transaminase1C1QBP CL E G H708617713COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33617713C4540209OMIM07321243601269
HP:0002910HP:0002910Elevated hepatic transaminase1CBS CL E G H875394ORPHA02146111550613381
HP:0002910HP:0002910Elevated hepatic transaminase1CCDC115 CL E G H84317616828CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo616828C4225191OMIM054828178613734
HP:0002910HP:0002910Elevated hepatic transaminase1CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA02438331787600160
HP:0002910HP:0002910Elevated hepatic transaminase1COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM01018918621606977
HP:0002910HP:0002910Elevated hepatic transaminase1CSPP1 CL E G H79848397715ORPHA02725726193611654
HP:0002910HP:0002910Elevated hepatic transaminase1DAXX CL E G H1616100075ORPHA0182681603186
HP:0002910HP:0002910Elevated hepatic transaminase1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM0232022898238331
HP:0002910HP:0002910Elevated hepatic transaminase1DOLK CL E G H2284591131ORPHA01121523406610746
HP:0002910HP:0002910Elevated hepatic transaminase1DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM0421572995191350
HP:0002910HP:0002910Elevated hepatic transaminase1FAN1 CL E G H22909614817Interstitial nephritis, karyomegalic614817C3553774OMIM02127329170613534
HP:0002910HP:0002910Elevated hepatic transaminase1FARSB CL E G H10056613658Rajab syndrome613658C3150910OMIM043817800609690
HP:0002910HP:0002910Elevated hepatic transaminase1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM04843413601605654
HP:0002910HP:0002910Elevated hepatic transaminase1GDF2 CL E G H2658615506Telangiectasia, hereditary hemorrhagic, type 5615506C3809710OMIM0171684217605120
HP:0002910HP:0002910Elevated hepatic transaminase1GNAS CL E G H2778562ORPHA02792164392139320
HP:0002910HP:0002910Elevated hepatic transaminase1GYS2 CL E G H29982089ORPHA0231954707138571
HP:0002910HP:0002910Elevated hepatic transaminase1HBB CL E G H3043231214ORPHA087110094827141900
HP:0002910HP:0002910Elevated hepatic transaminase1HLA-B CL E G H310636426ORPHA053174932142830
HP:0002910HP:0002910Elevated hepatic transaminase1HNF1B CL E G H6928261265ORPHA024048811630189907
HP:0002910HP:0002910Elevated hepatic transaminase1HNF1B CL E G H692893111ORPHA024048811630189907
HP:0002910HP:0002910Elevated hepatic transaminase1HNF4A CL E G H317293111ORPHA01572835024600281
HP:0002910HP:0002910Elevated hepatic transaminase1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM0155330600709
HP:0002910HP:0002910Elevated hepatic transaminase1IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM048318550609382
HP:0002910HP:0002910Elevated hepatic transaminase1IKZF1 CL E G H1032036426ORPHA0384213176603023
HP:0002910HP:0002910Elevated hepatic transaminase1KIAA0586 CL E G H9786397715ORPHA03115519960610178
HP:0002910HP:0002910Elevated hepatic transaminase1KIF23 CL E G H949398870ORPHA03326392605064
HP:0002910HP:0002910Elevated hepatic transaminase1KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA0452746407190070
HP:0002910HP:0002910Elevated hepatic transaminase1LHX1 CL E G H3975261265ORPHA071156593601999
HP:0002910HP:0002910Elevated hepatic transaminase1NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM02323417646610661
HP:0002910HP:0002910Elevated hepatic transaminase1OFD1 CL E G H84812750ORPHA01625102567300170
HP:0002910HP:0002910Elevated hepatic transaminase1PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA0417350326144610355
HP:0002910HP:0002910Elevated hepatic transaminase1PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA0439517068608092
HP:0002910HP:0002910Elevated hepatic transaminase1POLG CL E G H5428254892ORPHA030011969179174763
HP:0002910HP:0002910Elevated hepatic transaminase1POLG2 CL E G H11232254892ORPHA0141019180604983
HP:0002910HP:0002910Elevated hepatic transaminase1POLG2 CL E G H11232610131Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4610131C1864668OMIM0141019180604983
HP:0002910HP:0002910Elevated hepatic transaminase1PYGL CL E G H5836232700Glycogen storage disease, type VI232700C0017925OMIM0471639725613741
HP:0002910HP:0002910Elevated hepatic transaminase1RBCK1 CL E G H10616615895Polyglucosan body myopathy 1 with or without immunodeficiency615895C4014605OMIM01417815864610924
HP:0002910HP:0002910Elevated hepatic transaminase1RRM2B CL E G H50484254892ORPHA04321617296604712
HP:0002910HP:0002910Elevated hepatic transaminase1SC5D CL E G H6309607330Lathosterolosis607330C1846421OMIM0618210547602286
HP:0002910HP:0002910Elevated hepatic transaminase1SDHD CL E G H6392100093ORPHA017436110683602690
HP:0002910HP:0002910Elevated hepatic transaminase1SLC25A4 CL E G H291254892ORPHA01723410990103220
HP:0002910HP:0002910Elevated hepatic transaminase1SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA014712576770600993
HP:0002910HP:0002910Elevated hepatic transaminase1SP110 CL E G H343179124ORPHA0121875401604457
HP:0002910HP:0002910Elevated hepatic transaminase1TMEM199 CL E G H147007616829CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp616829C4225190OMIM052618085616815
HP:0002910HP:0002910Elevated hepatic transaminase1TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA0541203511998191170
HP:0002910HP:0002910Elevated hepatic transaminase1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM01735125751614138
HP:0002910HP:0002910Elevated hepatic transaminase1TWNK CL E G H56652254892ORPHA0831941160606075
HP:0002910HP:0002910Elevated hepatic transaminase1TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM0831941160606075
HP:0002910HP:0002910Elevated hepatic transaminase1USP18 CL E G H11274617397Pseudo-torch syndrome 2617397C4479376OMIM0114712616607057
HP:0002910HP:0002910Elevated hepatic transaminase1VPS13A CL E G H232302388ORPHA01165061908605978
HP:0002910HP:0002910Elevated hepatic transaminase1YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM01320324249610957


Genes (192) :ABCB4 ABCD3 ABHD5 ACAD9 ACADM ACOX1 ADA2 ADAR ADK AGL AGPAT2 AHCY AKR1D1 ALAS2 ALDOB ALG6 ALMS1 AMACR ASL ATM ATP6AP1 ATP7B ATP8B1 ATRX BCS1L BRCA1 BRCA2 BSCL2 C1QBP C8ORF37 C8orf37 CAV1 CAVIN1 CBS CC2D2A CCDC115 CD19 CD81 CDKN2A COG2 COG4 COG6 COG7 COG8 CPT1A CPT2 CR2 CSPP1 CYC1 CYP7B1 DAXX DCDC2 DDOST DGUOK DHDDS DLD DMD DNAJC19 DNAJC21 DOLK DPAGT1 DPM1 DPM2 DPM3 EIF2AK3 ERCC4 F5 FAH FAN1 FARSB FBXL4 FOS G6PC GDF2 GLRX5 GNAS GNE GNMT GPD1 GPR35 GYS2 HADH HADHA HADHB HAMP HBB HFE HJV HLA-B HNF1A HNF1B HNF4A HSD17B4 HSD3B7 IARS ICOS IER3IP1 IFIH1 IFT172 IKZF1 INPP5E JAG1 JAK2 KIAA0586 KIF23 KRAS LARS LBR LHX1 LIPT1 MARS MPV17 MRPL3 MRPL44 MRPS16 MS4A1 MST1 MVK NBAS NFKB1 NFKB2 NGLY1 NR1H4 NSMCE2 OCLN OFD1 PALB2 PALLD PEX13 PEX16 PEX19 PGM1 PHKA2 PHKG2 PMM2 PNPLA2 POLD1 POLG POLG2 PPARG PRKCD PSMB4 PSMB8 PSMB9 PYGL RBCK1 RNASEH2A RNASEH2B RNASEH2C RPGRIP1L RRM2B SAMHD1 SAR1B SBDS SC5D SDHD SERPINA1 SLC22A5 SLC25A13 SLC25A20 SLC25A4 SLC30A10 SLC37A4 SMAD4 SP110 SRD5A3 SRP54 STEAP3 TANGO2 TCF4 TFAM TFR2 TMEM165 TMEM199 TMEM67 TNFRSF13B TNFRSF13C TNFSF12 TP53 TRAPPC11 TREX1 TRMT10C TRMU TWNK TYMP UQCRC2 USP18 VIPAS39 VPS13A VPS33B WDR35 YARS2

Diseases (176) :600803 602347 616278 98907 99901 611126 201450 264470 615688 51 614300 232400 528 608594 88618 79303 235555 75563 300752 229600 203800 214950 100 300972 905 147480 100075 124000 1333 269700 617713 617406 613327 394 216360 1454 616828 1572 617395 263501 613489 614576 608779 156 255120 228308 600649 608836 397715 615453 79302 613812 617394 300536 251880 613861 2394 246900 98895 66634 260400 91131 608093 608799 615042 263494 612937 1667 610965 131 276700 614817 613658 615471 232200 615506 616860 562 3166 606664 614480 171 2089 71212 609015 79230 613313 231214 235200 36426 324575 261265 93111 137920 263455 261515 79301 607765 617093 614231 616394 118450 98870 615438 613471 616299 615486 256810 614582 615395 610498 610377 616483 615273 617049 251290 2750 614883 614886 614921 306000 613027 212065 98908 610717 615381 254892 298 203700 610131 617591 256040 232700 615895 610333 610329 71 607330 100093 613490 158 212140 603471 159 212138 309854 613280 232220 79124 612379 300298 616878 617156 604250 614727 616829 369840 615356 225750 192315 616974 613070 271245 615160 617397 613404 2388 208085 613610 613561 614972 603147 207900 611182 617253 614876
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.