Hypercholesterolemia Gene Set

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

283 genes associated with the Hypercholesterolemia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype 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
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
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
ACAT1 acetyl-CoA acetyltransferase 1
ACAT2 acetyl-CoA acetyltransferase 2
ACE angiotensin I converting enzyme
ACHE acetylcholinesterase (Yt blood group)
ADIPOQ adiponectin, C1Q and collagen domain containing
ADIPOR2 adiponectin receptor 2
ADORA1 adenosine A1 receptor
ADORA3 adenosine A3 receptor
ADRA2A adrenoceptor alpha 2A
ADRB1 adrenoceptor beta 1
ADRB2 adrenoceptor beta 2, surface
ADRB3 adrenoceptor beta 3
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AIRE autoimmune regulator
AKAP10 A kinase (PRKA) anchor protein 10
AKT2 v-akt murine thymoma viral oncogene homolog 2
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
ANGPT1 angiopoietin 1
ANKRD1 ankyrin repeat domain 1 (cardiac muscle)
AOC1 amine oxidase, copper containing 1
APOA1 apolipoprotein A-I
APOA2 apolipoprotein A-II
APOA4 apolipoprotein A-IV
APOA5 apolipoprotein A-V
APOB apolipoprotein B
APOC1 apolipoprotein C-I
APOC3 apolipoprotein C-III
APOC4 apolipoprotein C-IV
APOE apolipoprotein E
APOF apolipoprotein F
APOH apolipoprotein H (beta-2-glycoprotein I)
APOL1 apolipoprotein L, 1
APOL2 apolipoprotein L, 2
APOL3 apolipoprotein L, 3
APOL5 apolipoprotein L, 5
APOM apolipoprotein M
ARMS2 age-related maculopathy susceptibility 2
ATM ATM serine/threonine kinase
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
AVEN apoptosis, caspase activation inhibitor
BDNF brain-derived neurotrophic factor
CALY calcyon neuron-specific vesicular protein
CAPN10 calpain 10
CCK cholecystokinin
CCKAR cholecystokinin A receptor
CCKBR cholecystokinin B receptor
CCL11 chemokine (C-C motif) ligand 11
CCL2 chemokine (C-C motif) ligand 2
CCL5 chemokine (C-C motif) ligand 5
CD36 CD36 molecule (thrombospondin receptor)
CDKN2B-AS1 CDKN2B antisense RNA 1
CELSR2 cadherin, EGF LAG seven-pass G-type receptor 2
CETP cholesteryl ester transfer protein, plasma
CFH complement factor H
CHAT choline O-acetyltransferase
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39)
CHKB choline kinase beta
CHRM1 cholinergic receptor, muscarinic 1
CHRM2 cholinergic receptor, muscarinic 2
CHRM3 cholinergic receptor, muscarinic 3
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CILP2 cartilage intermediate layer protein 2
COMT catechol-O-methyltransferase
CPB2 carboxypeptidase B2 (plasma)
CPT1A carnitine palmitoyltransferase 1A (liver)
CPT2 carnitine palmitoyltransferase 2
CRABP2 cellular retinoic acid binding protein 2
CRH corticotropin releasing hormone
CRHR1 corticotropin releasing hormone receptor 1
CRHR2 corticotropin releasing hormone receptor 2
CRP C-reactive protein, pentraxin-related
CYBA cytochrome b-245, alpha polypeptide
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
CYP2C8 cytochrome P450, family 2, subfamily C, polypeptide 8
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1
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
DAO D-amino-acid oxidase
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase)
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DISC1 disrupted in schizophrenia 1
DRD2 dopamine receptor D2
DRD3 dopamine receptor D3
DRD4 dopamine receptor D4
DTNBP1 dystrobrevin binding protein 1
EDN1 endothelin 1
EDNRA endothelin receptor type A
ESR1 estrogen receptor 1
F12 coagulation factor XII (Hageman factor)
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
F7 coagulation factor VII (serum prothrombin conversion accelerator)
FABP2 fatty acid binding protein 2, intestinal
FABP4 fatty acid binding protein 4, adipocyte
FASLG Fas ligand (TNF superfamily, member 6)
FASN fatty acid synthase
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32)
FGB fibrinogen beta chain
FLT1 fms-related tyrosine kinase 1
FURIN furin (paired basic amino acid cleaving enzyme)
FXR1 fragile X mental retardation, autosomal homolog 1
GABRA2 gamma-aminobutyric acid (GABA) A receptor, alpha 2
GABRA4 gamma-aminobutyric acid (GABA) A receptor, alpha 4
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
GAL galanin/GMAP prepropeptide
GALNT2 polypeptide N-acetylgalactosaminyltransferase 2
GATA2 GATA binding protein 2
GFOD2 glucose-fructose oxidoreductase domain containing 2
GHRH growth hormone releasing hormone
GHRL ghrelin/obestatin prepropeptide
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GSK3B glycogen synthase kinase 3 beta
GYS1 glycogen synthase 1 (muscle)
GYS2 glycogen synthase 2 (liver)
HFE hemochromatosis
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase
HNMT histamine N-methyltransferase
HP haptoglobin
HRH1 histamine receptor H1
HRH2 histamine receptor H2
HRH3 histamine receptor H3
HTR1D 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled
HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
HTR3A 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic
HTR3B 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic
HTR6 5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled
HTR7 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled
HTRA1 HtrA serine peptidase 1
ICAM1 intercellular adhesion molecule 1
IGF1 insulin-like growth factor 1 (somatomedin C)
IL10 interleukin 10
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1R1 interleukin 1 receptor, type I
IL6 interleukin 6
INS insulin
INSIG2 insulin induced gene 2
INSR insulin receptor
IRS1 insulin receptor substrate 1
ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
ITIH4 inter-alpha-trypsin inhibitor heavy chain family, member 4
KDR kinase insert domain receptor
KIF6 kinesin family member 6
LDLR low density lipoprotein receptor
LDLRAP1 low density lipoprotein receptor adaptor protein 1
LEPR leptin receptor
LIPA lipase A, lysosomal acid, cholesterol esterase
LIPC lipase, hepatic
LIPF lipase, gastric
LIPG lipase, endothelial
LPA lipoprotein, Lp(a)
LPL lipoprotein lipase
LRP1 low density lipoprotein receptor-related protein 1
LRP2 low density lipoprotein receptor-related protein 2
LRP5 low density lipoprotein receptor-related protein 5
MC3R melanocortin 3 receptor
MC4R melanocortin 4 receptor
MCPH1 microcephalin 1
MDH1 malate dehydrogenase 1, NAD (soluble)
MIA3 melanoma inhibitory activity family, member 3
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MMP3 matrix metallopeptidase 3
MMP7 matrix metallopeptidase 7
MRAS muscle RAS oncogene homolog
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTTP microsomal triglyceride transfer protein
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH4 notch 4
NPC1L1 NPC1-like 1
NPY neuropeptide Y
NPY5R neuropeptide Y receptor Y5
NR1H3 nuclear receptor subfamily 1, group H, member 3
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
OAT ornithine aminotransferase
OLR1 oxidized low density lipoprotein (lectin-like) receptor 1
OR13G1 olfactory receptor, family 13, subfamily G, member 1
OXT oxytocin/neurophysin I prepropeptide
PAFAH2 platelet-activating factor acetylhydrolase 2, 40kDa
PBX4 pre-B-cell leukemia homeobox 4
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PCSK9 proprotein convertase subtilisin/kexin type 9
PDX1 pancreatic and duodenal homeobox 1
PECAM1 platelet/endothelial cell adhesion molecule 1
PFKL phosphofructokinase, liver
PFKM phosphofructokinase, muscle
PFKP phosphofructokinase, platelet
PIK3C2B phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta
PIK3C2G phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma
PIK3C3 phosphatidylinositol 3-kinase, catalytic subunit type 3
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PKLR pyruvate kinase, liver and RBC
PKM pyruvate kinase, muscle
PLA2G7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
PLIN1 perilipin 1
POMC proopiomelanocortin
PON1 paraoxonase 1
PPARA peroxisome proliferator-activated receptor alpha
PPARD peroxisome proliferator-activated receptor delta
PPARG peroxisome proliferator-activated receptor gamma
PPP1R17 protein phosphatase 1, regulatory subunit 17
PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit
PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit
PRKAG1 protein kinase, AMP-activated, gamma 1 non-catalytic subunit
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PSRC1 proline/serine-rich coiled-coil 1
PYY peptide YY
RARA retinoic acid receptor, alpha
RARB retinoic acid receptor, beta
RARG retinoic acid receptor, gamma
RETN resistin
ROS1 ROS proto-oncogene 1 , receptor tyrosine kinase
RXRA retinoid X receptor, alpha
RXRG retinoid X receptor, gamma
SCARB1 scavenger receptor class B, member 1
SCARB2 scavenger receptor class B, member 2
SELE selectin E
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SERPINA3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SLC12A4 solute carrier family 12 (potassium/chloride transporter), member 4
SLC39A7 solute carrier family 39 (zinc transporter), member 7
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLCO1B1 solute carrier organic anion transporter family, member 1B1
SOAT1 sterol O-acyltransferase 1
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
SORT1 sortilin 1
SREBF1 sterol regulatory element binding transcription factor 1
SREBF2 sterol regulatory element binding transcription factor 2
SST somatostatin
SSTR3 somatostatin receptor 3
TADA2A transcriptional adaptor 2A
TAS2R50 taste receptor, type 2, member 50
TCAP titin-cap
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box)
TEK TEK tyrosine kinase, endothelial
TGFB1 transforming growth factor, beta 1
TH tyrosine hydroxylase
THBD thrombomodulin
TLR4 toll-like receptor 4
TNF tumor necrosis factor
TNFAIP6 tumor necrosis factor, alpha-induced protein 6
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TNFSF4 tumor necrosis factor (ligand) superfamily, member 4
TXNRD2 thioredoxin reductase 2
UCP1 uncoupling protein 1 (mitochondrial, proton carrier)
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UTS2 urotensin 2
VAMP8 vesicle-associated membrane protein 8
VCAM1 vascular cell adhesion molecule 1
VEGFA vascular endothelial growth factor A
VKORC1 vitamin K epoxide reductase complex, subunit 1
ZNF627 zinc finger protein 627