Cholesterol Gene Set

Dataset dbGAP Gene-Trait Associations
Category disease or phenotype associations
Type trait
Description disease cluster belonging to disease group metabolic (Genetic Association Database)
Similar Terms
Downloads & Tools

Genes

268 genes associated with the trait Cholesterol in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

Symbol Name Standardized Value
APOC1 apolipoprotein C-I 2.30274
LDLR low density lipoprotein receptor 2.22108
APOB apolipoprotein B 2.20505
ZPR1 ZPR1 zinc finger 1.96192
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase 1.88033
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 1.86144
DOCK7 dedicator of cytokinesis 7 1.82207
LDAH lipid droplet associated hydrolase 1.8182
SUGP1 SURP and G patch domain containing 1 1.78878
TIMD4 T-cell immunoglobulin and mucin domain containing 4 1.63328
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 1.61174
GCKR glucokinase (hexokinase 4) regulator 1.60231
TMEM132D transmembrane protein 132D 1.53902
HPR haptoglobin-related protein 1.53555
PCSK9 proprotein convertase subtilisin/kexin type 9 1.53139
FADS1 fatty acid desaturase 1 1.47689
CELSR2 cadherin, EGF LAG seven-pass G-type receptor 2 1.45419
TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast) 1.36815
HLA-DRA major histocompatibility complex, class II, DR alpha 1.36252
TOP1 topoisomerase (DNA) I 1.29412
SLC22A1 solute carrier family 22 (organic cation transporter), member 1 1.27677
MAPKAP1 mitogen-activated protein kinase associated protein 1 1.25541
ZNF101 zinc finger protein 101 1.21571
HNF1A HNF1 homeobox A 1.1785
STIM1 stromal interaction molecule 1 1.11778
MARC1 mitochondrial amidoxime reducing component 1 1.09046
HNF4A hepatocyte nuclear factor 4, alpha 1.08574
FAP fibroblast activation protein, alpha 1.01272
ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 0.995026
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 0.995026
NPC1L1 NPC1-like 1 0.982475
PKP1 plakophilin 1 0.981239
TMEM57 transmembrane protein 57 0.973188
NRG3 neuregulin 3 0.958453
FRK fyn-related Src family tyrosine kinase 0.922056
FUT2 fucosyltransferase 2 (secretor status included) 0.922056
GPAM glycerol-3-phosphate acyltransferase, mitochondrial 0.922056
FADS2 fatty acid desaturase 2 0.922056
FER1L4 fer-1-like family member 4, pseudogene (functional) 0.897125
SKAP2 src kinase associated phosphoprotein 2 0.893223
MED12L mediator complex subunit 12-like 0.891767
DNAH11 dynein, axonemal, heavy chain 11 0.876006
PLEC plectin 0.866561
TTC39B tetratricopeptide repeat domain 39B 0.820059
MYLIP myosin regulatory light chain interacting protein 0.820059
ZYG11B zyg-11 family member B, cell cycle regulator 0.810666
RAF1 Raf-1 proto-oncogene, serine/threonine kinase 0.807263
DPP10 dipeptidyl-peptidase 10 (non-functional) 0.806845
SLC25A51 solute carrier family 25, member 51 0.791243
FBN1 fibrillin 1 0.781676
PDE4D phosphodiesterase 4D, cAMP-specific 0.76567
EFCAB13 EF-hand calcium binding domain 13 0.763999
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic) 0.763999
GUCY1B2 guanylate cyclase 1, soluble, beta 2 (pseudogene) 0.734151
HFE hemochromatosis 0.731179
CLMN calmin (calponin-like, transmembrane) 0.731179
TRPS1 trichorhinophalangeal syndrome I 0.731179
PHF20 PHD finger protein 20 0.724255
PALLD palladin, cytoskeletal associated protein 0.718723
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) 0.713171
EVI5 ecotropic viral integration site 5 0.711358
SPTY2D1 SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) 0.711358
IFIH1 interferon induced with helicase C domain 1 0.697878
CNTNAP2 contactin associated protein-like 2 0.697342
SYT17 synaptotagmin XVII 0.672599
MAST4 microtubule associated serine/threonine kinase family member 4 0.646523
PTGER3 prostaglandin E receptor 3 (subtype EP3) 0.631582
SUSD4 sushi domain containing 4 0.62174
OVCH1 ovochymase 1 0.620834
ZNF804B zinc finger protein 804B 0.609439
PTPRD protein tyrosine phosphatase, receptor type, D 0.60325
TTF2 transcription termination factor, RNA polymerase II 0.598936
CCDC174 coiled-coil domain containing 174 0.594513
STXBP4 syntaxin binding protein 4 0.594461
BBS9 Bardet-Biedl syndrome 9 0.591673
DOK6 docking protein 6 0.589987
MCC mutated in colorectal cancers 0.589198
DGKH diacylglycerol kinase, eta 0.587743
PAMR1 peptidase domain containing associated with muscle regeneration 1 0.579448
CADPS Ca++-dependent secretion activator 0.575479
HECTD4 HECT domain containing E3 ubiquitin protein ligase 4 0.575213
CTNNA3 catenin (cadherin-associated protein), alpha 3 0.572449
PTEN phosphatase and tensin homolog 0.56612
MRPL3 mitochondrial ribosomal protein L3 0.560865
FAM214A family with sequence similarity 214, member A 0.523636
RBMS3 RNA binding motif, single stranded interacting protein 3 0.520105
TSHZ2 teashirt zinc finger homeobox 2 0.507266
MNAT1 MNAT CDK-activating kinase assembly factor 1 0.505403
MRVI1 murine retrovirus integration site 1 homolog 0.501423
LEMD1 LEM domain containing 1 0.498884
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 0.49456
POLB polymerase (DNA directed), beta 0.491944
WDR72 WD repeat domain 72 0.490879
NR1H4 nuclear receptor subfamily 1, group H, member 4 0.490865
OSBPL6 oxysterol binding protein-like 6 0.48202
KCNK10 potassium channel, two pore domain subfamily K, member 10 0.481897
RIOK2 RIO kinase 2 0.479142
KLHL13 kelch-like family member 13 0.468993
RASSF8 Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 0.465164
C7ORF31 chromosome 7 open reading frame 31 0.462212
DOCK6 dedicator of cytokinesis 6 0.46068
PDLIM5 PDZ and LIM domain 5 0.457252
MID2 midline 2 0.456937
SLC24A3 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 0.455108
ARHGAP10 Rho GTPase activating protein 10 0.454664
AFF3 AF4/FMR2 family, member 3 0.454133
MYO3B myosin IIIB 0.446523
TTC7A tetratricopeptide repeat domain 7A 0.443956
PRDM16 PR domain containing 16 0.443956
ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide 0.441702
DOCK4 dedicator of cytokinesis 4 0.426278
ADAMTSL1 ADAMTS-like 1 0.411335
OPRM1 opioid receptor, mu 1 0.406297
RNF150 ring finger protein 150 0.403562
ITPR2 inositol 1,4,5-trisphosphate receptor, type 2 0.402372
ICA1 islet cell autoantigen 1, 69kDa 0.383467
ZNF286B zinc finger protein 286B 0.377492
ROR1 receptor tyrosine kinase-like orphan receptor 1 0.375149
TLE2 transducin-like enhancer of split 2 0.37473
LIMCH1 LIM and calponin homology domains 1 0.371103
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1 0.368503
PRKACB protein kinase, cAMP-dependent, catalytic, beta 0.368492
PHTF2 putative homeodomain transcription factor 2 0.352024
MYO16 myosin XVI 0.349091
MIMT1 MER1 repeat containing imprinted transcript 1 (non-protein coding) 0.348038
KYNU kynureninase 0.346447
LGALS8 lectin, galactoside-binding, soluble, 8 0.345407
SGCZ sarcoglycan, zeta 0.34002
KSR2 kinase suppressor of ras 2 0.33862
ITGA8 integrin, alpha 8 0.33862
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 0.337373
APC adenomatous polyposis coli 0.336165
EGFLAM EGF-like, fibronectin type III and laminin G domains 0.330787
KIAA0922 KIAA0922 0.324306
LRRC3B leucine rich repeat containing 3B 0.31125
GLIS1 GLIS family zinc finger 1 0.310838
PKNOX1 PBX/knotted 1 homeobox 1 0.310838
TSPAN5 tetraspanin 5 0.304672
PDGFRL platelet-derived growth factor receptor-like 0.300894
ZNF492 zinc finger protein 492 0.294179
ZNF257 zinc finger protein 257 0.294179
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 0.286766
POLR1D polymerase (RNA) I polypeptide D, 16kDa 0.2861
PGM1 phosphoglucomutase 1 0.282971
SSH1 slingshot protein phosphatase 1 0.282971
GSG1L GSG1-like 0.274185
KIAA0368 KIAA0368 0.269943
LVRN laeverin 0.268716
ANO3 anoctamin 3 0.268175
GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 0.267713
CYP2U1 cytochrome P450, family 2, subfamily U, polypeptide 1 0.2654
LTBP1 latent transforming growth factor beta binding protein 1 0.259912
SLC30A8 solute carrier family 30 (zinc transporter), member 8 0.258789
EDN3 endothelin 3 0.257982
SLIT3 slit homolog 3 (Drosophila) 0.257203
SLC7A8 solute carrier family 7 (amino acid transporter light chain, L system), member 8 0.256478
TNNI3K TNNI3 interacting kinase 0.256094
MKLN1 muskelin 1, intracellular mediator containing kelch motifs 0.255265
EDA ectodysplasin A 0.250086
C19ORF80 chromosome 19 open reading frame 80 0.248304
STK10 serine/threonine kinase 10 0.244698
AUTS2 autism susceptibility candidate 2 0.240552
MEGF11 multiple EGF-like-domains 11 0.237738
MGAT4C MGAT4 family, member C 0.236003
GRM1 glutamate receptor, metabotropic 1 0.232178
CPO carboxypeptidase O 0.231869
RGS7 regulator of G-protein signaling 7 0.229932
PRKCA protein kinase C, alpha 0.222783
LMX1A LIM homeobox transcription factor 1, alpha 0.216611
FSTL1 follistatin-like 1 0.215769
NRXN1 neurexin 1 0.215348
TEX36 testis expressed 36 0.213671
CENPC centromere protein C 0.212812
GNA12 guanine nucleotide binding protein (G protein) alpha 12 0.21057
TPCN2 two pore segment channel 2 0.209691
RSBN1L round spermatid basic protein 1-like 0.209099
SCUBE1 signal peptide, CUB domain, EGF-like 1 0.209015
SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 0.198893
WWC2 WW and C2 domain containing 2 0.198893
ADAM23 ADAM metallopeptidase domain 23 0.193777
CCDC7 coiled-coil domain containing 7 0.193745
GCSAML germinal center-associated, signaling and motility-like 0.193301
MYOM1 myomesin 1 0.19301
FOXN3 forkhead box N3 0.187515
LHPP phospholysine phosphohistidine inorganic pyrophosphate phosphatase 0.187413
RAPGEF6 Rap guanine nucleotide exchange factor (GEF) 6 0.186494
WDFY4 WDFY family member 4 0.185527
FAM135B family with sequence similarity 135, member B 0.183213
OR51E1 olfactory receptor, family 51, subfamily E, member 1 0.182166
ADIPOR2 adiponectin receptor 2 0.181412
TFPT TCF3 (E2A) fusion partner (in childhood Leukemia) 0.180884
REV1 REV1, polymerase (DNA directed) 0.179357
ACVRL1 activin A receptor type II-like 1 0.177807
GBP7 guanylate binding protein 7 0.177381
TENM2 teneurin transmembrane protein 2 0.17264
TJP2 tight junction protein 2 0.171617
TEKT5 tektin 5 0.168692
LARGE like-glycosyltransferase 0.168466
FAM163A family with sequence similarity 163, member A 0.165147
C1ORF87 chromosome 1 open reading frame 87 0.165039
LMBR1 limb development membrane protein 1 0.161497
MTSS1 metastasis suppressor 1 0.160135
NKAIN2 Na+/K+ transporting ATPase interacting 2 0.159988
CDHR1 cadherin-related family member 1 0.158131
DMXL2 Dmx-like 2 0.156142
DAXX death-domain associated protein 0.153785
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2 0.151033
RPA3 replication protein A3, 14kDa 0.150647
TAPBP TAP binding protein (tapasin) 0.148221
VPS52 vacuolar protein sorting 52 homolog (S. cerevisiae) 0.14286
RPS18 ribosomal protein S18 0.14286
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 0.139944
SMR3A submaxillary gland androgen regulated protein 3A 0.138484
PLEKHA7 pleckstrin homology domain containing, family A member 7 0.133754
TRHR thyrotropin-releasing hormone receptor 0.133714
C5ORF64 chromosome 5 open reading frame 64 0.132204
DNAH2 dynein, axonemal, heavy chain 2 0.131669
TTC28 tetratricopeptide repeat domain 28 0.131258
OPCML opioid binding protein/cell adhesion molecule-like 0.129369
NPAS2 neuronal PAS domain protein 2 0.129111
FRMD6 FERM domain containing 6 0.125976
COG3 component of oligomeric golgi complex 3 0.124063
HHAT hedgehog acyltransferase 0.121169
DLGAP1 discs, large (Drosophila) homolog-associated protein 1 0.119307
CCBE1 collagen and calcium binding EGF domains 1 0.116421
MACROD2 MACRO domain containing 2 0.116421
PTPRT protein tyrosine phosphatase, receptor type, T 0.11339
OSBPL3 oxysterol binding protein-like 3 0.11339
CLCNKA chloride channel, voltage-sensitive Ka 0.109085
POU6F2 POU class 6 homeobox 2 0.100542
OXTR oxytocin receptor 0.100507
SGMS2 sphingomyelin synthase 2 0.098242
SYBU syntabulin (syntaxin-interacting) 0.095743
ALDH7A1 aldehyde dehydrogenase 7 family, member A1 0.095184
ASTN2 astrotactin 2 0.09426
PHACTR1 phosphatase and actin regulator 1 0.093808
NUDT6 nudix (nucleoside diphosphate linked moiety X)-type motif 6 0.093808
ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif, 12 0.092482
PHF21B PHD finger protein 21B 0.092308
C3 complement component 3 0.090451
LRMP lymphoid-restricted membrane protein 0.089713
ENPEP glutamyl aminopeptidase (aminopeptidase A) 0.089552
RORA RAR-related orphan receptor A 0.089508
TMPRSS15 transmembrane protease, serine 15 0.0866
TRAF3IP2 TRAF3 interacting protein 2 0.085512
CHODL chondrolectin 0.084684
ETFA electron-transfer-flavoprotein, alpha polypeptide 0.082635
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 0.081046
HAO1 hydroxyacid oxidase (glycolate oxidase) 1 0.079278
COL25A1 collagen, type XXV, alpha 1 0.078676
FAM107B family with sequence similarity 107, member B 0.077548
MTMR7 myotubularin related protein 7 0.077409
KIAA1210 KIAA1210 0.076987
LYRM4 LYR motif containing 4 0.075643
FRMD3 FERM domain containing 3 0.069077
AFTPH aftiphilin 0.067983
FBXL17 F-box and leucine-rich repeat protein 17 0.066376
ASPA aspartoacylase 0.063741
LRP2 low density lipoprotein receptor-related protein 2 0.06326
KMT2A lysine (K)-specific methyltransferase 2A 0.062676
FAM186A family with sequence similarity 186, member A 0.062347
WWOX WW domain containing oxidoreductase 0.062141
HIVEP1 human immunodeficiency virus type I enhancer binding protein 1 0.061197
IGSF21 immunoglobin superfamily, member 21 0.059671
NELL1 NEL-like 1 (chicken) 0.059401
KLF6 Kruppel-like factor 6 0.059074
FBXL7 F-box and leucine-rich repeat protein 7 0.0581
KCNIP4 Kv channel interacting protein 4 0.0581