cholesterol Gene Set

Dataset GAD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description disease cluster belonging to disease group metabolic (Genetic Association Database)
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274 genes associated with the disease cholesterol 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
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8
ACVRL1 activin A receptor type II-like 1
ADAM23 ADAM metallopeptidase domain 23
ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif, 12
ADIPOR2 adiponectin receptor 2
AFF3 AF4/FMR2 family, member 3
AFTPH aftiphilin
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
ANO3 anoctamin 3
APC adenomatous polyposis coli
APOA5 apolipoprotein A-V
APOB apolipoprotein B
APOC1 apolipoprotein C-I
APOC3 apolipoprotein C-III
APOE apolipoprotein E
ARHGAP10 Rho GTPase activating protein 10
ASPA aspartoacylase
ASTN2 astrotactin 2
ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
AUTS2 autism susceptibility candidate 2
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BBS9 Bardet-Biedl syndrome 9
C1ORF87 chromosome 1 open reading frame 87
C3 complement component 3
C7ORF31 chromosome 7 open reading frame 31
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4
CADPS Ca++-dependent secretion activator
CCBE1 collagen and calcium binding EGF domains 1
CCDC174 coiled-coil domain containing 174
CCDC7 coiled-coil domain containing 7
CDHR1 cadherin-related family member 1
CELSR2 cadherin, EGF LAG seven-pass G-type receptor 2
CENPC centromere protein C
CETP cholesteryl ester transfer protein, plasma
CHODL chondrolectin
CLCNKA chloride channel, voltage-sensitive Ka
CLMN calmin (calponin-like, transmembrane)
CNTNAP2 contactin associated protein-like 2
COG3 component of oligomeric golgi complex 3
COL25A1 collagen, type XXV, alpha 1
CPO carboxypeptidase O
CTNNA3 catenin (cadherin-associated protein), alpha 3
CYBA cytochrome b-245, alpha polypeptide
CYP2U1 cytochrome P450, family 2, subfamily U, polypeptide 1
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
CYP46A1 cytochrome P450, family 46, subfamily A, polypeptide 1
DAXX death-domain associated protein
DGKH diacylglycerol kinase, eta
DLGAP1 discs, large (Drosophila) homolog-associated protein 1
DMXL2 Dmx-like 2
DNAH11 dynein, axonemal, heavy chain 11
DNAH2 dynein, axonemal, heavy chain 2
DOCK4 dedicator of cytokinesis 4
DOCK6 dedicator of cytokinesis 6
DOCK7 dedicator of cytokinesis 7
DOK6 docking protein 6
DPP10 dipeptidyl-peptidase 10 (non-functional)
EDA ectodysplasin A
EDN3 endothelin 3
EFCAB13 EF-hand calcium binding domain 13
EGFLAM EGF-like, fibronectin type III and laminin G domains
ENPEP glutamyl aminopeptidase (aminopeptidase A)
ETFA electron-transfer-flavoprotein, alpha polypeptide
EVI5 ecotropic viral integration site 5
FADS1 fatty acid desaturase 1
FADS2 fatty acid desaturase 2
FAM107B family with sequence similarity 107, member B
FAM135B family with sequence similarity 135, member B
FAM163A family with sequence similarity 163, member A
FAM186A family with sequence similarity 186, member A
FAM214A family with sequence similarity 214, member A
FAP fibroblast activation protein, alpha
FBN1 fibrillin 1
FBXL17 F-box and leucine-rich repeat protein 17
FBXL7 F-box and leucine-rich repeat protein 7
FOXN3 forkhead box N3
FRK fyn-related Src family tyrosine kinase
FRMD3 FERM domain containing 3
FRMD6 FERM domain containing 6
FSTL1 follistatin-like 1
FUT2 fucosyltransferase 2 (secretor status included)
GALNT14 polypeptide N-acetylgalactosaminyltransferase 14
GBP7 guanylate binding protein 7
GCKR glucokinase (hexokinase 4) regulator
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
GCSAML germinal center-associated, signaling and motility-like
GLIS1 GLIS family zinc finger 1
GNA12 guanine nucleotide binding protein (G protein) alpha 12
GPAM glycerol-3-phosphate acyltransferase, mitochondrial
GRM1 glutamate receptor, metabotropic 1
GSG1L GSG1-like
HAO1 hydroxyacid oxidase (glycolate oxidase) 1
HECTD4 HECT domain containing E3 ubiquitin protein ligase 4
HFE hemochromatosis
HHAT hedgehog acyltransferase
HIVEP1 human immunodeficiency virus type I enhancer binding protein 1
HLA-DRA major histocompatibility complex, class II, DR alpha
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase
HNF1A HNF1 homeobox A
HNF4A hepatocyte nuclear factor 4, alpha
HPR haptoglobin-related protein
ICA1 islet cell autoantigen 1, 69kDa
IFIH1 interferon induced with helicase C domain 1
IGSF21 immunoglobin superfamily, member 21
ITGA8 integrin, alpha 8
ITIH4 inter-alpha-trypsin inhibitor heavy chain family, member 4
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
ITPR2 inositol 1,4,5-trisphosphate receptor, type 2
KCNIP4 Kv channel interacting protein 4
KCNK10 potassium channel, two pore domain subfamily K, member 10
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
KIAA0368 KIAA0368
KIAA0922 KIAA0922
KIAA1210 KIAA1210
KLF6 Kruppel-like factor 6
KLHL13 kelch-like family member 13
KMT2A lysine (K)-specific methyltransferase 2A
KSR2 kinase suppressor of ras 2
KYNU kynureninase
LARGE like-glycosyltransferase
LDAH lipid droplet associated hydrolase
LDLR low density lipoprotein receptor
LEMD1 LEM domain containing 1
LGALS8 lectin, galactoside-binding, soluble, 8
LHPP phospholysine phosphohistidine inorganic pyrophosphate phosphatase
LIMCH1 LIM and calponin homology domains 1
LMBR1 limb development membrane protein 1
LMX1A LIM homeobox transcription factor 1, alpha
LRMP lymphoid-restricted membrane protein
LRP2 low density lipoprotein receptor-related protein 2
LRRC3B leucine rich repeat containing 3B
LTBP1 latent transforming growth factor beta binding protein 1
LVRN laeverin
LYRM4 LYR motif containing 4
MACROD2 MACRO domain containing 2
MAPKAP1 mitogen-activated protein kinase associated protein 1
MARC1 mitochondrial amidoxime reducing component 1
MAST4 microtubule associated serine/threonine kinase family member 4
MCC mutated in colorectal cancers
MED12L mediator complex subunit 12-like
MEGF11 multiple EGF-like-domains 11
MGAT4C MGAT4 family, member C
MID2 midline 2
MKLN1 muskelin 1, intracellular mediator containing kelch motifs
MNAT1 MNAT CDK-activating kinase assembly factor 1
MRPL3 mitochondrial ribosomal protein L3
MRVI1 murine retrovirus integration site 1 homolog
MTMR7 myotubularin related protein 7
MTSS1 metastasis suppressor 1
MYLIP myosin regulatory light chain interacting protein
MYO16 myosin XVI
MYO3B myosin IIIB
MYOM1 myomesin 1
NELL1 NEL-like 1 (chicken)
NKAIN2 Na+/K+ transporting ATPase interacting 2
NPAS2 neuronal PAS domain protein 2
NPC1L1 NPC1-like 1
NPY neuropeptide Y
NR1H4 nuclear receptor subfamily 1, group H, member 4
NRG3 neuregulin 3
NRXN1 neurexin 1
NUDT6 nudix (nucleoside diphosphate linked moiety X)-type motif 6
OPCML opioid binding protein/cell adhesion molecule-like
OPRM1 opioid receptor, mu 1
OR51E1 olfactory receptor, family 51, subfamily E, member 1
OSBPL3 oxysterol binding protein-like 3
OSBPL6 oxysterol binding protein-like 6
OVCH1 ovochymase 1
OXTR oxytocin receptor
PALLD palladin, cytoskeletal associated protein
PAMR1 peptidase domain containing associated with muscle regeneration 1
PCSK9 proprotein convertase subtilisin/kexin type 9
PDE4D phosphodiesterase 4D, cAMP-specific
PDGFRL platelet-derived growth factor receptor-like
PDLIM5 PDZ and LIM domain 5
PGM1 phosphoglucomutase 1
PHACTR1 phosphatase and actin regulator 1
PHF20 PHD finger protein 20
PHF21B PHD finger protein 21B
PHTF2 putative homeodomain transcription factor 2
PKNOX1 PBX/knotted 1 homeobox 1
PKP1 plakophilin 1
PLA2G7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
PLEC plectin
PLEKHA7 pleckstrin homology domain containing, family A member 7
POLB polymerase (DNA directed), beta
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POU6F2 POU class 6 homeobox 2
PRDM16 PR domain containing 16
PRKACB protein kinase, cAMP-dependent, catalytic, beta
PRKCA protein kinase C, alpha
PTEN phosphatase and tensin homolog
PTGER3 prostaglandin E receptor 3 (subtype EP3)
PTPRD protein tyrosine phosphatase, receptor type, D
PTPRT protein tyrosine phosphatase, receptor type, T
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAPGEF6 Rap guanine nucleotide exchange factor (GEF) 6
RASSF8 Ras association (RalGDS/AF-6) domain family (N-terminal) member 8
RBMS3 RNA binding motif, single stranded interacting protein 3
REV1 REV1, polymerase (DNA directed)
RGS7 regulator of G-protein signaling 7
RIOK2 RIO kinase 2
RNF150 ring finger protein 150
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila)
ROR1 receptor tyrosine kinase-like orphan receptor 1
RORA RAR-related orphan receptor A
RPA3 replication protein A3, 14kDa
RPS18 ribosomal protein S18
RSBN1L round spermatid basic protein 1-like
SCUBE1 signal peptide, CUB domain, EGF-like 1
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
SGCZ sarcoglycan, zeta
SGMS2 sphingomyelin synthase 2
SKAP2 src kinase associated phosphoprotein 2
SLC22A1 solute carrier family 22 (organic cation transporter), member 1
SLC24A3 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3
SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21
SLC25A51 solute carrier family 25, member 51
SLC30A8 solute carrier family 30 (zinc transporter), member 8
SLC7A8 solute carrier family 7 (amino acid transporter light chain, L system), member 8
SLCO1B1 solute carrier organic anion transporter family, member 1B1
SLIT3 slit homolog 3 (Drosophila)
SMR3A submaxillary gland androgen regulated protein 3A
SPTY2D1 SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)
SSH1 slingshot protein phosphatase 1
ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4
STIM1 stromal interaction molecule 1
STK10 serine/threonine kinase 10
STXBP4 syntaxin binding protein 4
SUGP1 SURP and G patch domain containing 1
SUSD4 sushi domain containing 4
SYBU syntabulin (syntaxin-interacting)
SYT17 synaptotagmin XVII
TAPBP TAP binding protein (tapasin)
TEKT5 tektin 5
TENM2 teneurin transmembrane protein 2
TEX36 testis expressed 36
TFPT TCF3 (E2A) fusion partner (in childhood Leukemia)
TIMD4 T-cell immunoglobulin and mucin domain containing 4
TJP2 tight junction protein 2
TLE2 transducin-like enhancer of split 2
TMEM132D transmembrane protein 132D
TMEM57 transmembrane protein 57
TMPRSS15 transmembrane protease, serine 15
TNNI3K TNNI3 interacting kinase
TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast)
TOP1 topoisomerase (DNA) I
TPCN2 two pore segment channel 2
TRAF3IP2 TRAF3 interacting protein 2
TRHR thyrotropin-releasing hormone receptor
TRPS1 trichorhinophalangeal syndrome I
TSHZ2 teashirt zinc finger homeobox 2
TSPAN5 tetraspanin 5
TTC28 tetratricopeptide repeat domain 28
TTC39B tetratricopeptide repeat domain 39B
TTC7A tetratricopeptide repeat domain 7A
TTF2 transcription termination factor, RNA polymerase II
VPS52 vacuolar protein sorting 52 homolog (S. cerevisiae)
WDFY4 WDFY family member 4
WDR72 WD repeat domain 72
WWC2 WW and C2 domain containing 2
WWOX WW domain containing oxidoreductase
ZNF101 zinc finger protein 101
ZNF257 zinc finger protein 257
ZNF286B zinc finger protein 286B
ZNF492 zinc finger protein 492
ZNF804B zinc finger protein 804B
ZPR1 ZPR1 zinc finger
ZYG11B zyg-11 family member B, cell cycle regulator