hypercholesterolemia Gene Set

Dataset GAD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An increased concentration of cholesterol in the blood. (Human Phenotype Ontology, HP_0003124)
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Genes

46 genes associated with the disease hypercholesterolemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8
ACACA acetyl-CoA carboxylase alpha
ACACB acetyl-CoA carboxylase beta
ACE angiotensin I converting enzyme
APOA1 apolipoprotein A-I
APOA4 apolipoprotein A-IV
APOA5 apolipoprotein A-V
APOB apolipoprotein B
APOC3 apolipoprotein C-III
APOE apolipoprotein E
CETP cholesteryl ester transfer protein, plasma
CRABP2 cellular retinoic acid binding protein 2
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1
FABP2 fatty acid binding protein 2, intestinal
FABP4 fatty acid binding protein 4, adipocyte
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase
ITIH4 inter-alpha-trypsin inhibitor heavy chain family, member 4
LDLR low density lipoprotein receptor
LEPR leptin receptor
LIPC lipase, hepatic
LPL lipoprotein lipase
LRP2 low density lipoprotein receptor-related protein 2
LRP5 low density lipoprotein receptor-related protein 5
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
NPC1L1 NPC1-like 1
NPY neuropeptide Y
PCSK9 proprotein convertase subtilisin/kexin type 9
PON1 paraoxonase 1
PON2 paraoxonase 2
PPARG peroxisome proliferator-activated receptor gamma
PPP1R17 protein phosphatase 1, regulatory subunit 17
SCARB1 scavenger receptor class B, member 1
SLCO1B1 solute carrier organic anion transporter family, member 1B1
SOD2 superoxide dismutase 2, mitochondrial
SREBF1 sterol regulatory element binding transcription factor 1
SREBF2 sterol regulatory element binding transcription factor 2
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1