Cholesterol, LDL Gene Set

Dataset dbGAP Gene-Trait Associations
Category disease or phenotype associations
Type trait
Description Cholesterol which is contained in or bound to low density lipoproteins (LDL), including CHOLESTEROL ESTERS and free cholesterol. (Experimental Factor Ontology, EFO_0004195)
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Genes

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

Symbol Name Standardized Value
CELSR2 cadherin, EGF LAG seven-pass G-type receptor 2 2.56833
APOC1 apolipoprotein C-I 2.5207
LDLR low density lipoprotein receptor 2.35411
APOB apolipoprotein B 2.3244
LDAH lipid droplet associated hydrolase 1.93306
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 1.89071
APOE apolipoprotein E 1.89071
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase 1.85998
PCSK9 proprotein convertase subtilisin/kexin type 9 1.85253
PSRC1 proline/serine-rich coiled-coil 1 1.73157
ZPR1 ZPR1 zinc finger 1.59958
TIMD4 T-cell immunoglobulin and mucin domain containing 4 1.47689
HPR haptoglobin-related protein 1.47689
SUGP1 SURP and G patch domain containing 1 1.45773
FADS1 fatty acid desaturase 1 1.45275
SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 1.38882
TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast) 1.37626
TOP1 topoisomerase (DNA) I 1.36815
DOCK7 dedicator of cytokinesis 7 1.33123
GPD2 glycerol-3-phosphate dehydrogenase 2 (mitochondrial) 1.30249
SLC22A1 solute carrier family 22 (organic cation transporter), member 1 1.30017
HNF1A HNF1 homeobox A 1.23281
ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 1.23281
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) 1.21571
HLA-DRA major histocompatibility complex, class II, DR alpha 1.21571
C1ORF131 chromosome 1 open reading frame 131 1.20241
LPA lipoprotein, Lp(a) 1.19362
STIM1 stromal interaction molecule 1 1.14419
PSD3 pleckstrin and Sec7 domain containing 3 1.12215
FADS2 fatty acid desaturase 2 1.09623
PLEC plectin 1.09623
PDE4D phosphodiesterase 4D, cAMP-specific 1.07671
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) 1.05292
NRG3 neuregulin 3 1.04956
HNRNPD heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) 1.03759
SNX31 sorting nexin 31 1.02175
MYLIP myosin regulatory light chain interacting protein 1.01477
NYNRIN NYN domain and retroviral integrase containing 0.973188
NPC1L1 NPC1-like 1 0.973188
UBR5 ubiquitin protein ligase E3 component n-recognin 5 0.972673
BAZ2B bromodomain adjacent to zinc finger domain, 2B 0.964087
SYCP2L synaptonemal complex protein 2-like 0.960528
MARC1 mitochondrial amidoxime reducing component 1 0.960111
TMEM57 transmembrane protein 57 0.944178
CAMKMT calmodulin-lysine N-methyltransferase 0.924138
LY86-AS1 LY86 antisense RNA 1 0.924076
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 0.907793
SULT1B1 sulfotransferase family, cytosolic, 1B, member 1 0.900688
CELF6 CUGBP, Elav-like family member 6 0.889974
HFE hemochromatosis 0.88185
DNAH11 dynein, axonemal, heavy chain 11 0.876006
TFCP2 transcription factor CP2 0.853427
FHIT fragile histidine triad 0.838126
AKR1C4 aldo-keto reductase family 1, member C4 0.83714
GPAM glycerol-3-phosphate acyltransferase, mitochondrial 0.836775
NAA35 N(alpha)-acetyltransferase 35, NatC auxiliary subunit 0.827261
FRK fyn-related Src family tyrosine kinase 0.820059
PPFIBP1 PTPRF interacting protein, binding protein 1 (liprin beta 1) 0.816912
PIK3C2B phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 0.811596
EFCAB13 EF-hand calcium binding domain 13 0.807263
MED12L mediator complex subunit 12-like 0.793393
PDLIM5 PDZ and LIM domain 5 0.79301
CLNK cytokine-dependent hematopoietic cell linker 0.775439
MRPL3 mitochondrial ribosomal protein L3 0.745104
SLC24A3 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 0.727993
ZYG11B zyg-11 family member B, cell cycle regulator 0.725294
NOVA1 neuro-oncological ventral antigen 1 0.713229
MBD5 methyl-CpG binding domain protein 5 0.710718
MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 0.704401
HECTD4 HECT domain containing E3 ubiquitin protein ligase 4 0.696924
CCDC102B coiled-coil domain containing 102B 0.691522
RALA v-ral simian leukemia viral oncogene homolog A (ras related) 0.688797
PTPRK protein tyrosine phosphatase, receptor type, K 0.687987
COL11A2 collagen, type XI, alpha 2 0.685324
RXRB retinoid X receptor, beta 0.685324
NR1H4 nuclear receptor subfamily 1, group H, member 4 0.681066
EGFLAM EGF-like, fibronectin type III and laminin G domains 0.672635
RBM26 RNA binding motif protein 26 0.662432
IGSF11 immunoglobulin superfamily, member 11 0.638719
ZNF518A zinc finger protein 518A 0.631234
PCDH9 protocadherin 9 0.630737
FAM214A family with sequence similarity 214, member A 0.62852
RALYL RALY RNA binding protein-like 0.627988
ST3GAL1 ST3 beta-galactoside alpha-2,3-sialyltransferase 1 0.623835
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.621832
THSD7B thrombospondin, type I, domain containing 7B 0.621461
WFDC9 WAP four-disulfide core domain 9 0.61763
WFDC13 WAP four-disulfide core domain 13 0.616339
DTNBP1 dystrobrevin binding protein 1 0.610928
AR androgen receptor 0.609816
ASB18 ankyrin repeat and SOCS box containing 18 0.609816
EPB41L2 erythrocyte membrane protein band 4.1-like 2 0.609816
CR1L complement component (3b/4b) receptor 1-like 0.609816
LPIN2 lipin 2 0.608084
PLA2G15 phospholipase A2, group XV 0.606563
WDFY1 WD repeat and FYVE domain containing 1 0.606284
GANC glucosidase, alpha; neutral C 0.596819
PTPRD protein tyrosine phosphatase, receptor type, D 0.593327
SND1 staphylococcal nuclease and tudor domain containing 1 0.590825
CHRNA5 cholinergic receptor, nicotinic, alpha 5 (neuronal) 0.589902
ATF6 activating transcription factor 6 0.58588
ZNF492 zinc finger protein 492 0.585749
PHACTR1 phosphatase and actin regulator 1 0.569755
NAA25 N(alpha)-acetyltransferase 25, NatB auxiliary subunit 0.560709
RNF150 ring finger protein 150 0.553417
GCKR glucokinase (hexokinase 4) regulator 0.552134
DOCK6 dedicator of cytokinesis 6 0.549911
TNFAIP8 tumor necrosis factor, alpha-induced protein 8 0.54907
KSR2 kinase suppressor of ras 2 0.539181
TTF2 transcription termination factor, RNA polymerase II 0.536418
SSX2IP synovial sarcoma, X breakpoint 2 interacting protein 0.525314
KCNQ5 potassium channel, voltage gated KQT-like subfamily Q, member 5 0.522712
ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 0.513685
PTEN phosphatase and tensin homolog 0.513058
TRPS1 trichorhinophalangeal syndrome I 0.51029
CNTNAP5 contactin associated protein-like 5 0.508132
SLC25A51 solute carrier family 25, member 51 0.507932
ANK1 ankyrin 1, erythrocytic 0.507164
STXBP4 syntaxin binding protein 4 0.503995
B3GALTL beta 1,3-galactosyltransferase-like 0.500349
PHF20 PHD finger protein 20 0.49908
MMP16 matrix metallopeptidase 16 (membrane-inserted) 0.490464
DFNA5 deafness, autosomal dominant 5 0.489028
DIAPH3 diaphanous-related formin 3 0.488317
BBS9 Bardet-Biedl syndrome 9 0.485369
SYT17 synaptotagmin XVII 0.478993
CNTNAP2 contactin associated protein-like 2 0.457542
NAV3 neuron navigator 3 0.453266
MED6 mediator complex subunit 6 0.451472
ZNF804B zinc finger protein 804B 0.450271
OSBPL6 oxysterol binding protein-like 6 0.445858
MAMLD1 mastermind-like domain containing 1 0.442488
UVRAG UV radiation resistance associated 0.439001
EDA ectodysplasin A 0.437348
SCUBE1 signal peptide, CUB domain, EGF-like 1 0.434271
DGKH diacylglycerol kinase, eta 0.423049
LRMP lymphoid-restricted membrane protein 0.421837
SOBP sine oculis binding protein homolog (Drosophila) 0.417407
SUMF1 sulfatase modifying factor 1 0.413462
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 0.412676
KYNU kynureninase 0.407092
TSHZ2 teashirt zinc finger homeobox 2 0.404993
POU6F2 POU class 6 homeobox 2 0.401793
POLB polymerase (DNA directed), beta 0.4016
TICRR TOPBP1-interacting checkpoint and replication regulator 0.397932
RBMS3 RNA binding motif, single stranded interacting protein 3 0.39649
ADK adenosine kinase 0.394938
AGBL1 ATP/GTP binding protein-like 1 0.38613
FAM19A2 family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 0.382997
HSPA4L heat shock 70kDa protein 4-like 0.353638
RAPGEF6 Rap guanine nucleotide exchange factor (GEF) 6 0.351627
OPRM1 opioid receptor, mu 1 0.349
TRA T cell receptor alpha locus 0.341491
BCL6B B-cell CLL/lymphoma 6, member B 0.331813
MSL1 male-specific lethal 1 homolog (Drosophila) 0.330226
TSPAN5 tetraspanin 5 0.328223
MRVI1 murine retrovirus integration site 1 homolog 0.3282
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3 0.318862
FSTL1 follistatin-like 1 0.312956
ATF2 activating transcription factor 2 0.308849
C7ORF31 chromosome 7 open reading frame 31 0.307936
FAM96A family with sequence similarity 96, member A 0.306589
HP haptoglobin 0.304575
IL17F interleukin 17F 0.300123
ROR1 receptor tyrosine kinase-like orphan receptor 1 0.294431
RGS7 regulator of G-protein signaling 7 0.292811
PLA2R1 phospholipase A2 receptor 1, 180kDa 0.277267
KLHL29 kelch-like family member 29 0.276957
TGIF1 TGFB-induced factor homeobox 1 0.275065
RIOK2 RIO kinase 2 0.273397
CCDC7 coiled-coil domain containing 7 0.261505
WWC2 WW and C2 domain containing 2 0.259176
ZNF257 zinc finger protein 257 0.256857
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 0.253801
FAM155A family with sequence similarity 155, member A 0.252996
CEP68 centrosomal protein 68kDa 0.251335
WDR72 WD repeat domain 72 0.251142
RPA3 replication protein A3, 14kDa 0.244489
MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 0.24376
GLIS3 GLIS family zinc finger 3 0.233337
TRPC5 transient receptor potential cation channel, subfamily C, member 5 0.226048
MAST4 microtubule associated serine/threonine kinase family member 4 0.220803
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila) 0.220622
PAMR1 peptidase domain containing associated with muscle regeneration 1 0.218691
AFTPH aftiphilin 0.215769
FRMD3 FERM domain containing 3 0.212835
SUGT1P3 SUGT1 pseudogene 3 0.210755
FKBP7 FK506 binding protein 7 0.210603
GCSAML germinal center-associated, signaling and motility-like 0.207605
L3MBTL4 l(3)mbt-like 4 (Drosophila) 0.207605
ASTN2 astrotactin 2 0.204594
TMEM108 transmembrane protein 108 0.204116
FBXW8 F-box and WD repeat domain containing 8 0.200784
TEKT5 tektin 5 0.200498
KIAA1468 KIAA1468 0.198796
ANK3 ankyrin 3, node of Ranvier (ankyrin G) 0.196076
ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B 0.194738
NELL1 NEL-like 1 (chicken) 0.191429
NRXN1 neurexin 1 0.188669
NUF2 NUF2, NDC80 kinetochore complex component 0.187754
TRHR thyrotropin-releasing hormone receptor 0.181412
MUSK muscle, skeletal, receptor tyrosine kinase 0.180402
FDCSP follicular dendritic cell secreted protein 0.180402
ANK2 ankyrin 2, neuronal 0.178316
SLCO1B3 solute carrier organic anion transporter family, member 1B3 0.178316
LUZP2 leucine zipper protein 2 0.177594
VPS13B vacuolar protein sorting 13 homolog B (yeast) 0.176759
ST6GALNAC3 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 0.171443
CACNA2D3 calcium channel, voltage-dependent, alpha 2/delta subunit 3 0.170979
NXPH1 neurexophilin 1 0.16958
PRKCA protein kinase C, alpha 0.166209
PROC protein C (inactivator of coagulation factors Va and VIIIa) 0.165303
ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif, 12 0.159564
LRRN2 leucine rich repeat neuronal 2 0.155442
ADRA1A adrenoceptor alpha 1A 0.152832
TRHDE thyrotropin-releasing hormone degrading enzyme 0.149492
TRPA1 transient receptor potential cation channel, subfamily A, member 1 0.149492
SLC7A8 solute carrier family 7 (amino acid transporter light chain, L system), member 8 0.149492
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) 0.14676
FHOD3 formin homology 2 domain containing 3 0.145218
ARHGAP32 Rho GTPase activating protein 32 0.140993
ADGRL2 adhesion G protein-coupled receptor L2 0.138377
DIAPH2 diaphanous-related formin 2 0.138377
L3MBTL3 l(3)mbt-like 3 (Drosophila) 0.136816
FAM163A family with sequence similarity 163, member A 0.135229
ZNF37A zinc finger protein 37A 0.1332
LRRC3B leucine rich repeat containing 3B 0.131572
KCNIP4 Kv channel interacting protein 4 0.130639
PNPT1 polyribonucleotide nucleotidyltransferase 1 0.130273
PLEKHA7 pleckstrin homology domain containing, family A member 7 0.12831
CLDN16 claudin 16 0.127541
MTUS1 microtubule associated tumor suppressor 1 0.126578
CNTN4 contactin 4 0.124565
FSTL5 follistatin-like 5 0.124063
FAM60A family with sequence similarity 60, member A 0.123062
RSBN1L round spermatid basic protein 1-like 0.121529
ERBB4 erb-b2 receptor tyrosine kinase 4 0.118456
ATP1B1 ATPase, Na+/K+ transporting, beta 1 polypeptide 0.117437
TRAF3IP2 TRAF3 interacting protein 2 0.115408
NUDT6 nudix (nucleoside diphosphate linked moiety X)-type motif 6 0.112888
SPATA5 spermatogenesis associated 5 0.112888
PTPRT protein tyrosine phosphatase, receptor type, T 0.112386
SDC4 syndecan 4 0.111885
PHTF2 putative homeodomain transcription factor 2 0.110884
IL20RA interleukin 20 receptor, alpha 0.109657
DMD dystrophin 0.107899
HPGDS hematopoietic prostaglandin D synthase 0.107331
TP63 tumor protein p63 0.107157
LARGE like-glycosyltransferase 0.106199
MTMR7 myotubularin related protein 7 0.105922
PTPRZ1 protein tyrosine phosphatase, receptor-type, Z polypeptide 1 0.104447
SCFD2 sec1 family domain containing 2 0.103467
MROH7 maestro heat-like repeat family member 7 0.102978
SGCZ sarcoglycan, zeta 0.102719
YBX3 Y box binding protein 3 0.102489
LVRN laeverin 0.101679
RPH3A rabphilin 3A 0.101082
RORA RAR-related orphan receptor A 0.100704
SOX5 SRY (sex determining region Y)-box 5 0.100057
ARHGAP28 Rho GTPase activating protein 28 0.096199
LIMCH1 LIM and calponin homology domains 1 0.095252
SSH1 slingshot protein phosphatase 1 0.095241
FGF2 fibroblast growth factor 2 (basic) 0.093808
GSG1L GSG1-like 0.093363
KIAA1324 KIAA1324 0.093363
LMX1A LIM homeobox transcription factor 1, alpha 0.093363
MTHFS 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase) 0.092922
CERS6 ceramide synthase 6 0.09284
NR3C2 nuclear receptor subfamily 3, group C, member 2 0.092042
ERCC3 excision repair cross-complementation group 3 0.088489
MTAP methylthioadenosine phosphorylase 0.08811
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 0.08811
SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 0.088027
MAPRE2 microtubule-associated protein, RP/EB family, member 2 0.085512
RYR3 ryanodine receptor 3 0.085114
REV1 REV1, polymerase (DNA directed) 0.08422
SLC16A10 solute carrier family 16 (aromatic amino acid transporter), member 10 0.08191
TJP2 tight junction protein 2 0.081224
ALDH1B1 aldehyde dehydrogenase 1 family, member B1 0.080993
SCGN secretagogin, EF-hand calcium binding protein 0.079099
NXPE1 neurexophilin and PC-esterase domain family, member 1 0.075307
GABRG3 gamma-aminobutyric acid (GABA) A receptor, gamma 3 0.075307
FMN1 formin 1 0.073635
SYBU syntabulin (syntaxin-interacting) 0.07307
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C 0.072386
ADAMTSL1 ADAMTS-like 1 0.072234
C19ORF80 chromosome 19 open reading frame 80 0.071289
GBP2 guanylate binding protein 2, interferon-inducible 0.070902
KIAA1328 KIAA1328 0.070727
LYRM4 LYR motif containing 4 0.070088
DPYSL2 dihydropyrimidinase-like 2 0.070077
RIMS2 regulating synaptic membrane exocytosis 2 0.069901
TLE2 transducin-like enhancer of split 2 0.068951
KCNG3 potassium channel, voltage gated modifier subfamily G, member 3 0.068814
ITGB6 integrin, beta 6 0.068318
AFAP1L1 actin filament associated protein 1-like 1 0.068137
LPP LIM domain containing preferred translocation partner in lipoma 0.067983
GRM1 glutamate receptor, metabotropic 1 0.06746
ALK anaplastic lymphoma receptor tyrosine kinase 0.064364
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 0.061034
SLX4IP SLX4 interacting protein 0.059075
PDE5A phosphodiesterase 5A, cGMP-specific 0.0581
ENG endoglin 0.057919
FGFR2 fibroblast growth factor receptor 2 0.057753