hepatic steatosis Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description The presence of steatosis in the liver. (Human Phenotype Ontology, HP_0001397)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002628
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Genes

165 gene mutations causing the hepatic steatosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
A2M alpha-2-macroglobulin
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1
ABHD5 abhydrolase domain containing 5
ACADL acyl-CoA dehydrogenase, long chain
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACADVL acyl-CoA dehydrogenase, very long chain
ACOX1 acyl-CoA oxidase 1, palmitoyl
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary)
ADIPOQ adiponectin, C1Q and collagen domain containing
ADK adenosine kinase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGPAT5 1-acylglycerol-3-phosphate O-acyltransferase 5
AHR aryl hydrocarbon receptor
ALMS1 Alstrom syndrome protein 1
APC adenomatous polyposis coli
APOB apolipoprotein B
ATF6 activating transcription factor 6
ATXN2 ataxin 2
BAG3 BCL2-associated athanogene 3
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BCO1 beta-carotene oxygenase 1
BCO2 beta-carotene oxygenase 2
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BHMT betaine--homocysteine S-methyltransferase
BRD2 bromodomain containing 2
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C3 complement component 3
C5AR2 complement component 5a receptor 2
CBS cystathionine-beta-synthase
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CLOCK clock circadian regulator
CPT1C carnitine palmitoyltransferase 1C
CSPG4 chondroitin sulfate proteoglycan 4
CTHRC1 collagen triple helix repeat containing 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1
DDIT3 DNA-damage-inducible transcript 3
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
DLK1 delta-like 1 homolog (Drosophila)
EBF1 early B-cell factor 1
ELOVL5 ELOVL fatty acid elongase 5
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
EPM2AIP1 EPM2A (laforin) interacting protein 1
ERCC1 excision repair cross-complementation group 1
FFAR4 free fatty acid receptor 4
FGF21 fibroblast growth factor 21
FGL1 fibrinogen-like 1
FSTL3 follistatin-like 3 (secreted glycoprotein)
G6PC glucose-6-phosphatase, catalytic subunit
GCK glucokinase (hexokinase 4)
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GOLM1 golgi membrane protein 1
GPRC6A G protein-coupled receptor, class C, group 6, member A
GPX7 glutathione peroxidase 7
GSTZ1 glutathione S-transferase zeta 1
GUCY2C guanylate cyclase 2C
H2AFY H2A histone family, member Y
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HDAC3 histone deacetylase 3
HNF1A HNF1 homeobox A
HNF4A hepatocyte nuclear factor 4, alpha
HPRT1 hypoxanthine phosphoribosyltransferase 1
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
IGF2BP1 insulin-like growth factor 2 mRNA binding protein 1
IGFBP1 insulin-like growth factor binding protein 1
INS insulin
INSR insulin receptor
KDM3A lysine (K)-specific demethylase 3A
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KMT2B lysine (K)-specific methyltransferase 2B
KRT8 keratin 8, type II
LACTB2 lactamase, beta 2
LDLR low density lipoprotein receptor
LEP leptin
LEPR leptin receptor
LIPA lipase A, lysosomal acid, cholesterol esterase
LIPI lipase, member I
LPIN1 lipin 1
LTA lymphotoxin alpha
MAN2C1 mannosidase, alpha, class 2C, member 1
MAT1A methionine adenosyltransferase I, alpha
MC4R melanocortin 4 receptor
MGAT4A mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A
MIR122 microRNA 122
MRAP2 melanocortin 2 receptor accessory protein 2
MTTP microsomal triglyceride transfer protein
MUT methylmalonyl CoA mutase
NCOA5 nuclear receptor coactivator 5
NCOR1 nuclear receptor corepressor 1
NEIL1 nei endonuclease VIII-like 1 (E. coli)
NFE2L2 nuclear factor, erythroid 2-like 2
NMU neuromedin U
NOS3 nitric oxide synthase 3 (endothelial cell)
NPBWR1 neuropeptides B/W receptor 1
NPC1 Niemann-Pick disease, type C1
NPY5R neuropeptide Y receptor Y5
NPY6R neuropeptide Y receptor Y6 (pseudogene)
NR1H3 nuclear receptor subfamily 1, group H, member 3
NR1H4 nuclear receptor subfamily 1, group H, member 4
OCA2 oculocutaneous albinism II
OMA1 OMA1 zinc metallopeptidase
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OSMR oncostatin M receptor
PANK1 pantothenate kinase 1
PCCA propionyl CoA carboxylase, alpha polypeptide
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PEMT phosphatidylethanolamine N-methyltransferase
PEX1 peroxisomal biogenesis factor 1
PEX11A peroxisomal biogenesis factor 11 alpha
PEX13 peroxisomal biogenesis factor 13
PEX2 peroxisomal biogenesis factor 2
PEX7 peroxisomal biogenesis factor 7
PHYH phytanoyl-CoA 2-hydroxylase
PITPNA phosphatidylinositol transfer protein, alpha
PITX3 paired-like homeodomain 3
PLA2G12B phospholipase A2, group XIIB
PLA2G15 phospholipase A2, group XV
PNPLA2 patatin-like phospholipase domain containing 2
POMC proopiomelanocortin
POR P450 (cytochrome) oxidoreductase
POU3F2 POU class 3 homeobox 2
PPARA peroxisome proliferator-activated receptor alpha
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPARGC1B peroxisome proliferator-activated receptor gamma, coactivator 1 beta
PRKCDBP protein kinase C, delta binding protein
PRKCI protein kinase C, iota
PRLH prolactin releasing hormone
PROX1 prospero homeobox 1
PTGER4 prostaglandin E receptor 4 (subtype EP4)
RBL1 retinoblastoma-like 1
RGN regucalcin
RTN4RL1 reticulon 4 receptor-like 1
SAMD4A sterile alpha motif domain containing 4A
SCG5 secretogranin V
SEC61A1 Sec61 alpha 1 subunit (S. cerevisiae)
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SESN2 sestrin 2
SIRPA signal-regulatory protein alpha
SIRT3 sirtuin 3
SIRT7 sirtuin 7
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
SLC5A10 solute carrier family 5 (sodium/sugar cotransporter), member 10
SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase
SOCS1 suppressor of cytokine signaling 1
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
STEAP4 STEAP family member 4
TERF2IP telomeric repeat binding factor 2, interacting protein
THEM5 thioesterase superfamily member 5
TLR2 toll-like receptor 2
TLR5 toll-like receptor 5
TNF tumor necrosis factor
TP53 tumor protein p53
TUB tubby bipartite transcription factor
TXNIP thioredoxin interacting protein
UROS uroporphyrinogen III synthase
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase