cholesterol, ldl Gene Set

Dataset GAD Gene-Disease Associations
Category disease or phenotype associations
Type disease
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

300 genes associated with the disease cholesterol, ldl 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
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
ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif, 12
ADAMTSL1 ADAMTS-like 1
ADGRL2 adhesion G protein-coupled receptor L2
ADK adenosine kinase
ADRA1A adrenoceptor alpha 1A
AFAP1L1 actin filament associated protein 1-like 1
AFTPH aftiphilin
AGBL1 ATP/GTP binding protein-like 1
AKR1C4 aldo-keto reductase family 1, member C4
ALDH1B1 aldehyde dehydrogenase 1 family, member B1
ALK anaplastic lymphoma receptor tyrosine kinase
ANK1 ankyrin 1, erythrocytic
ANK2 ankyrin 2, neuronal
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B
APOB apolipoprotein B
APOC1 apolipoprotein C-I
APOE apolipoprotein E
AR androgen receptor
ARHGAP28 Rho GTPase activating protein 28
ARHGAP32 Rho GTPase activating protein 32
ARIH1 ariadne RBR E3 ubiquitin protein ligase 1
ASB18 ankyrin repeat and SOCS box containing 18
ASTN2 astrotactin 2
ATF2 activating transcription factor 2
ATF6 activating transcription factor 6
ATP1B1 ATPase, Na+/K+ transporting, beta 1 polypeptide
B3GALTL beta 1,3-galactosyltransferase-like
BAZ2B bromodomain adjacent to zinc finger domain, 2B
BBS9 Bardet-Biedl syndrome 9
BCL6B B-cell CLL/lymphoma 6, member B
C1ORF131 chromosome 1 open reading frame 131
C7ORF31 chromosome 7 open reading frame 31
CACNA2D3 calcium channel, voltage-dependent, alpha 2/delta subunit 3
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4
CAMKMT calmodulin-lysine N-methyltransferase
CCDC102B coiled-coil domain containing 102B
CCDC7 coiled-coil domain containing 7
CELF6 CUGBP, Elav-like family member 6
CELSR2 cadherin, EGF LAG seven-pass G-type receptor 2
CEP68 centrosomal protein 68kDa
CERS6 ceramide synthase 6
CHRNA5 cholinergic receptor, nicotinic, alpha 5 (neuronal)
CLDN16 claudin 16
CLNK cytokine-dependent hematopoietic cell linker
CNTN4 contactin 4
CNTNAP2 contactin associated protein-like 2
CNTNAP5 contactin associated protein-like 5
COL11A2 collagen, type XI, alpha 2
CR1L complement component (3b/4b) receptor 1-like
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila)
DFNA5 deafness, autosomal dominant 5
DGKH diacylglycerol kinase, eta
DIAPH2 diaphanous-related formin 2
DIAPH3 diaphanous-related formin 3
DMD dystrophin
DNAH11 dynein, axonemal, heavy chain 11
DOCK6 dedicator of cytokinesis 6
DOCK7 dedicator of cytokinesis 7
DPYSL2 dihydropyrimidinase-like 2
DTNBP1 dystrobrevin binding protein 1
EDA ectodysplasin A
EFCAB13 EF-hand calcium binding domain 13
EGFLAM EGF-like, fibronectin type III and laminin G domains
EPB41L2 erythrocyte membrane protein band 4.1-like 2
ERBB4 erb-b2 receptor tyrosine kinase 4
ERCC3 excision repair cross-complementation group 3
FADS1 fatty acid desaturase 1
FADS2 fatty acid desaturase 2
FAM155A family with sequence similarity 155, member A
FAM163A family with sequence similarity 163, member A
FAM19A2 family with sequence similarity 19 (chemokine (C-C motif)-like), member A2
FAM214A family with sequence similarity 214, member A
FAM60A family with sequence similarity 60, member A
FAM96A family with sequence similarity 96, member A
FBXW8 F-box and WD repeat domain containing 8
FDCSP follicular dendritic cell secreted protein
FGF2 fibroblast growth factor 2 (basic)
FHIT fragile histidine triad
FHOD3 formin homology 2 domain containing 3
FKBP7 FK506 binding protein 7
FMN1 formin 1
FRK fyn-related Src family tyrosine kinase
FRMD3 FERM domain containing 3
FSTL1 follistatin-like 1
FSTL5 follistatin-like 5
GABRG3 gamma-aminobutyric acid (GABA) A receptor, gamma 3
GANC glucosidase, alpha; neutral C
GBP2 guanylate binding protein 2, interferon-inducible
GCKR glucokinase (hexokinase 4) regulator
GCSAML germinal center-associated, signaling and motility-like
GLIS3 GLIS family zinc finger 3
GPAM glycerol-3-phosphate acyltransferase, mitochondrial
GPD2 glycerol-3-phosphate dehydrogenase 2 (mitochondrial)
GRM1 glutamate receptor, metabotropic 1
GSG1L GSG1-like
HECTD4 HECT domain containing E3 ubiquitin protein ligase 4
HFE hemochromatosis
HLA-DRA major histocompatibility complex, class II, DR alpha
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase
HNF1A HNF1 homeobox A
HNRNPD heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)
HP haptoglobin
HPGDS hematopoietic prostaglandin D synthase
HPR haptoglobin-related protein
HSPA4L heat shock 70kDa protein 4-like
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
IGSF11 immunoglobulin superfamily, member 11
IL17F interleukin 17F
IL20RA interleukin 20 receptor, alpha
ITGB6 integrin, beta 6
KCNG3 potassium channel, voltage gated modifier subfamily G, member 3
KCNIP4 Kv channel interacting protein 4
KCNQ5 potassium channel, voltage gated KQT-like subfamily Q, member 5
KIAA1324 KIAA1324
KIAA1328 KIAA1328
KIAA1468 KIAA1468
KLHL29 kelch-like family member 29
KSR2 kinase suppressor of ras 2
KYNU kynureninase
L3MBTL3 l(3)mbt-like 3 (Drosophila)
L3MBTL4 l(3)mbt-like 4 (Drosophila)
LARGE like-glycosyltransferase
LDAH lipid droplet associated hydrolase
LDLR low density lipoprotein receptor
LIMCH1 LIM and calponin homology domains 1
LMX1A LIM homeobox transcription factor 1, alpha
LPA lipoprotein, Lp(a)
LPIN2 lipin 2
LPP LIM domain containing preferred translocation partner in lipoma
LRMP lymphoid-restricted membrane protein
LRRC3B leucine rich repeat containing 3B
LRRN2 leucine rich repeat neuronal 2
LUZP2 leucine zipper protein 2
LVRN laeverin
LYRM4 LYR motif containing 4
MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2
MAMLD1 mastermind-like domain containing 1
MAPRE2 microtubule-associated protein, RP/EB family, member 2
MARC1 mitochondrial amidoxime reducing component 1
MAST4 microtubule associated serine/threonine kinase family member 4
MBD5 methyl-CpG binding domain protein 5
MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2
MED12L mediator complex subunit 12-like
MED6 mediator complex subunit 6
MMP16 matrix metallopeptidase 16 (membrane-inserted)
MROH7 maestro heat-like repeat family member 7
MRPL3 mitochondrial ribosomal protein L3
MRVI1 murine retrovirus integration site 1 homolog
MSL1 male-specific lethal 1 homolog (Drosophila)
MTAP methylthioadenosine phosphorylase
MTHFS 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)
MTMR7 myotubularin related protein 7
MTUS1 microtubule associated tumor suppressor 1
MUSK muscle, skeletal, receptor tyrosine kinase
MYLIP myosin regulatory light chain interacting protein
NAA25 N(alpha)-acetyltransferase 25, NatB auxiliary subunit
NAA35 N(alpha)-acetyltransferase 35, NatC auxiliary subunit
NAV3 neuron navigator 3
NELL1 NEL-like 1 (chicken)
NOVA1 neuro-oncological ventral antigen 1
NPC1L1 NPC1-like 1
NR1H4 nuclear receptor subfamily 1, group H, member 4
NR3C2 nuclear receptor subfamily 3, group C, member 2
NRG3 neuregulin 3
NRXN1 neurexin 1
NUDT6 nudix (nucleoside diphosphate linked moiety X)-type motif 6
NUF2 NUF2, NDC80 kinetochore complex component
NXPE1 neurexophilin and PC-esterase domain family, member 1
NXPH1 neurexophilin 1
NYNRIN NYN domain and retroviral integrase containing
OPRM1 opioid receptor, mu 1
OSBPL6 oxysterol binding protein-like 6
PAMR1 peptidase domain containing associated with muscle regeneration 1
PCDH9 protocadherin 9
PCSK9 proprotein convertase subtilisin/kexin type 9
PDE4D phosphodiesterase 4D, cAMP-specific
PDE5A phosphodiesterase 5A, cGMP-specific
PDLIM5 PDZ and LIM domain 5
PHACTR1 phosphatase and actin regulator 1
PHF20 PHD finger protein 20
PHTF2 putative homeodomain transcription factor 2
PIK3C2B phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PLA2G15 phospholipase A2, group XV
PLA2R1 phospholipase A2 receptor 1, 180kDa
PLEC plectin
PLEKHA7 pleckstrin homology domain containing, family A member 7
PNPT1 polyribonucleotide nucleotidyltransferase 1
POLB polymerase (DNA directed), beta
POU6F2 POU class 6 homeobox 2
PPFIBP1 PTPRF interacting protein, binding protein 1 (liprin beta 1)
PRKCA protein kinase C, alpha
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PSD3 pleckstrin and Sec7 domain containing 3
PSRC1 proline/serine-rich coiled-coil 1
PTEN phosphatase and tensin homolog
PTPRD protein tyrosine phosphatase, receptor type, D
PTPRK protein tyrosine phosphatase, receptor type, K
PTPRT protein tyrosine phosphatase, receptor type, T
PTPRZ1 protein tyrosine phosphatase, receptor-type, Z polypeptide 1
RALA v-ral simian leukemia viral oncogene homolog A (ras related)
RALYL RALY RNA binding protein-like
RAPGEF6 Rap guanine nucleotide exchange factor (GEF) 6
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1
RBM26 RNA binding motif protein 26
RBMS3 RNA binding motif, single stranded interacting protein 3
REV1 REV1, polymerase (DNA directed)
RGS7 regulator of G-protein signaling 7
RIMS2 regulating synaptic membrane exocytosis 2
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
RPH3A rabphilin 3A
RSBN1L round spermatid basic protein 1-like
RXRB retinoid X receptor, beta
RYR3 ryanodine receptor 3
SCARB1 scavenger receptor class B, member 1
SCFD2 sec1 family domain containing 2
SCGN secretagogin, EF-hand calcium binding protein
SCUBE1 signal peptide, CUB domain, EGF-like 1
SDC4 syndecan 4
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2
SGCZ sarcoglycan, zeta
SLC16A10 solute carrier family 16 (aromatic amino acid transporter), member 10
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC22A1 solute carrier family 22 (organic cation transporter), member 1
SLC24A3 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3
SLC25A51 solute carrier family 25, member 51
SLC7A8 solute carrier family 7 (amino acid transporter light chain, L system), member 8
SLCO1B3 solute carrier organic anion transporter family, member 1B3
SLX4IP SLX4 interacting protein
SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
SND1 staphylococcal nuclease and tudor domain containing 1
SNX31 sorting nexin 31
SOBP sine oculis binding protein homolog (Drosophila)
SOX5 SRY (sex determining region Y)-box 5
SPATA5 spermatogenesis associated 5
SSH1 slingshot protein phosphatase 1
SSX2IP synovial sarcoma, X breakpoint 2 interacting protein
ST3GAL1 ST3 beta-galactoside alpha-2,3-sialyltransferase 1
ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4
ST6GALNAC3 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3
STIM1 stromal interaction molecule 1
STXBP4 syntaxin binding protein 4
SUGP1 SURP and G patch domain containing 1
SULT1B1 sulfotransferase family, cytosolic, 1B, member 1
SUMF1 sulfatase modifying factor 1
SYBU syntabulin (syntaxin-interacting)
SYCP2L synaptonemal complex protein 2-like
SYT17 synaptotagmin XVII
TEKT5 tektin 5
TFCP2 transcription factor CP2
TGIF1 TGFB-induced factor homeobox 1
THSD7B thrombospondin, type I, domain containing 7B
TICRR TOPBP1-interacting checkpoint and replication regulator
TIMD4 T-cell immunoglobulin and mucin domain containing 4
TJP2 tight junction protein 2
TLE2 transducin-like enhancer of split 2
TMEM108 transmembrane protein 108
TMEM57 transmembrane protein 57
TNFAIP8 tumor necrosis factor, alpha-induced protein 8
TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast)
TOP1 topoisomerase (DNA) I
TP63 tumor protein p63
TRAF3IP2 TRAF3 interacting protein 2
TRHDE thyrotropin-releasing hormone degrading enzyme
TRHR thyrotropin-releasing hormone receptor
TRPA1 transient receptor potential cation channel, subfamily A, member 1
TRPC5 transient receptor potential cation channel, subfamily C, member 5
TRPS1 trichorhinophalangeal syndrome I
TSHZ2 teashirt zinc finger homeobox 2
TSPAN5 tetraspanin 5
TTF2 transcription termination factor, RNA polymerase II
UBR5 ubiquitin protein ligase E3 component n-recognin 5
UVRAG UV radiation resistance associated
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WDFY1 WD repeat and FYVE domain containing 1
WDR72 WD repeat domain 72
WFDC13 WAP four-disulfide core domain 13
WFDC9 WAP four-disulfide core domain 9
WWC2 WW and C2 domain containing 2
YBX3 Y box binding protein 3
ZNF257 zinc finger protein 257
ZNF37A zinc finger protein 37A
ZNF492 zinc finger protein 492
ZNF518A zinc finger protein 518A
ZNF804B zinc finger protein 804B
ZPR1 ZPR1 zinc finger
ZYG11B zyg-11 family member B, cell cycle regulator