hypercholesterolemia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An increased concentration of cholesterol in the blood. (Human Phenotype Ontology, HP_0003124)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003124
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17 genes associated with the hypercholesterolemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8
APOB apolipoprotein B
APOE apolipoprotein E
APTX aprataxin
CAV1 caveolin 1, caveolae protein, 22kDa
DYRK1B dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B
JAG1 jagged 1
LDLRAP1 low density lipoprotein receptor adaptor protein 1
LIPA lipase A, lysosomal acid, cholesterol esterase
LPL lipoprotein lipase
OCRL oculocerebrorenal syndrome of Lowe
PCSK9 proprotein convertase subtilisin/kexin type 9
PHKA2 phosphorylase kinase, alpha 2 (liver)
RAI1 retinoic acid induced 1
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13
TTPA tocopherol (alpha) transfer protein