hepatic steatosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The presence of steatosis in the liver. (Human Phenotype Ontology, HP_0001397)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001397
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Genes

60 genes associated with the hepatic steatosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABHD5 abhydrolase domain containing 5
ACAD9 acyl-CoA dehydrogenase family, member 9
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACADVL acyl-CoA dehydrogenase, very long chain
ACOX1 acyl-CoA oxidase 1, palmitoyl
ADK adenosine kinase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AKT2 v-akt murine thymoma viral oncogene homolog 2
ALDOB aldolase B, fructose-bisphosphate
ALMS1 Alstrom syndrome protein 1
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CIDEC cell death-inducing DFFA-like effector c
COG6 component of oligomeric golgi complex 6
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
CPT1A carnitine palmitoyltransferase 1A (liver)
CPT2 carnitine palmitoyltransferase 2
DGUOK deoxyguanosine kinase
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
FOS FBJ murine osteosarcoma viral oncogene homolog
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GPD1 glycerol-3-phosphate dehydrogenase 1 (soluble)
HADH hydroxyacyl-CoA dehydrogenase
HFE hemochromatosis
HNF1B HNF1 homeobox B
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
LIPE lipase, hormone-sensitive
LMNA lamin A/C
LMNB2 lamin B2
LRPPRC leucine-rich pentatricopeptide repeat containing
LYRM4 LYR motif containing 4
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)
MPV17 MpV17 mitochondrial inner membrane protein
MRPL44 mitochondrial ribosomal protein L44
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PCK2 phosphoenolpyruvate carboxykinase 2 (mitochondrial)
PGM1 phosphoglucomutase 1
PLIN1 perilipin 1
PMM2 phosphomannomutase 2
PNPLA2 patatin-like phospholipase domain containing 2
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POLG polymerase (DNA directed), gamma
PPARG peroxisome proliferator-activated receptor gamma
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PRDM16 PR domain containing 16
PTRF polymerase I and transcript release factor
SKI SKI proto-oncogene
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
TARS2 threonyl-tRNA synthetase 2, mitochondrial (putative)
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
UROD uroporphyrinogen decarboxylase