abnormal liver cholesterol level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description aberrant amount in the liver of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues (Mammalian Phenotype Ontology, MP_0012776)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0012776
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Genes

32 gene mutations causing the abnormal liver cholesterol level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACOT13 acyl-CoA thioesterase 13
APOF apolipoprotein F
DBI diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)
DGAT1 diacylglycerol O-acyltransferase 1
DHCR7 7-dehydrocholesterol reductase
DNAJC15 DnaJ (Hsp40) homolog, subfamily C, member 15
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
FABP6 fatty acid binding protein 6, ileal
FOXO1 forkhead box O1
LDLR low density lipoprotein receptor
LEP leptin
LIPA lipase A, lysosomal acid, cholesterol esterase
MIR122 microRNA 122
MTTP microsomal triglyceride transfer protein
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NR1D1 nuclear receptor subfamily 1, group D, member 1
NR1H3 nuclear receptor subfamily 1, group H, member 3
NR1H4 nuclear receptor subfamily 1, group H, member 4
OSMR oncostatin M receptor
P2RY13 purinergic receptor P2Y, G-protein coupled, 13
PEX2 peroxisomal biogenesis factor 2
PPARD peroxisome proliferator-activated receptor delta
RGN regucalcin
SCP2 sterol carrier protein 2
SIK3 SIK family kinase 3
SIRT3 sirtuin 3
SLC27A5 solute carrier family 27 (fatty acid transporter), member 5
SREBF1 sterol regulatory element binding transcription factor 1
SREBF2 sterol regulatory element binding transcription factor 2
STARD10 StAR-related lipid transfer (START) domain containing 10
STARD3 StAR-related lipid transfer (START) domain containing 3