hypercholesterolemia Gene Set
Genes
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
|
