increased liver cholesterol level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description greater than normal 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_0010027)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010027
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Genes

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

Symbol Name
APOF apolipoprotein F
DBI diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
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
NR1H3 nuclear receptor subfamily 1, group H, member 3
NR1H4 nuclear receptor subfamily 1, group H, member 4
OSMR oncostatin M receptor
RGN regucalcin
SIK3 SIK family kinase 3
SIRT3 sirtuin 3
SREBF1 sterol regulatory element binding transcription factor 1
STARD3 StAR-related lipid transfer (START) domain containing 3